mutation n_samples median_dna_vaf ensg genetic type is_driver NDUFS1@p.I623R 5 0.194 ENSG00000023228 chr2:206127813-206127813;A/C missense_variant False FAM91A1@p.D418A 4 0.237 ENSG00000176853 chr8:123787725-123787725;A/C missense_variant False ANKS4B@p.M33Ifs*17 3 0.014 ENSG00000175311 chr16:21233835-21233835;T/TAC frameshift_variant False TP53@p.R282W 3 0.468 ENSG00000141510 chr17:7673776-7673776;G/A missense_variant True MAPRE3@p.C182Lfs*16 3 0.168 ENSG00000084764 chr2:27025648-27025648;G/GC frameshift_variant False CHD3@p.R540Pfs*47 3 0.062 ENSG00000170004 chr17:7895446-7895446;A/AC frameshift_variant False ALMS1@p.N3329K 2 0.44 ENSG00000116127 chr2:73550346-73550346;C/A missense_variant False ABCC8@p.T1508P 2 0.1975 ENSG00000006071 chr11:17394289-17394289;T/G missense_variant False CTCFL@p.H303D 2 0.0865 ENSG00000124092 chr20:57519225-57519225;G/C missense_variant False SLC8A3@p.V431L 2 0.1169999999999999 ENSG00000100678 chr14:70167132-70167132;C/A missense_variant False KLHL35@p.M366L 2 0.3285 ENSG00000149243 chr11:75426609-75426609;T/A missense_variant False ZDBF2@p.V690A 2 0.1684999999999999 ENSG00000204186 chr2:206306597-206306597;T/C missense_variant False PNPLA6@p.T803S 2 0.1805 ENSG00000032444 chr19:7554214-7554214;A/T missense_variant False PNN@p.V162A 2 0.1325 ENSG00000100941 chr14:39177903-39177903;T/C missense_variant False DUOX1@p.R509W 2 0.0435 ENSG00000137857 chr15:45141030-45141030;C/T missense_variant False TRIM64B@p.S126Tfs*3 2 0.0795 ENSG00000189253 chr11:89875640-89875640;GC/G frameshift_variant False NBPF19@p.L365Q 2 0.0885 ENSG00000271383 chr1:149488066-149488066;T/A missense_variant False CD63@p.R108T 2 0.38 ENSG00000135404 chr12:55726897-55726897;C/G missense_variant False TP53@p.M133K 2 0.6165 ENSG00000141510 chr17:7675214-7675214;A/T missense_variant True CALM1@p.T147I 2 0.5575 ENSG00000198668 chr14:90404707-90404707;C/T missense_variant False TP53@p.R273H 2 0.4315 ENSG00000141510 chr17:7673802-7673802;C/T missense_variant True GLI1@p.C275Lfs*32 2 0.128 ENSG00000111087 chr12:57466291-57466291;T/TG frameshift_variant False FKBP9@p.G345E 2 0.182 ENSG00000122642 chr7:32988647-32988647;G/A missense_variant False APOB@p.L470V 2 0.264 ENSG00000084674 chr2:21029960-21029960;G/C missense_variant False TP53@p.Y220C 2 0.789 ENSG00000141510 chr17:7674872-7674872;T/C missense_variant True C1orf68@p.T104_P105insHTKFLFLVGLEC 2 0.201 chr1:152719832-152719832;C/CACACACCAAATTTCTTTTTCTTGTTGGTTTAGAGTG inframe_insertion False FNDC3B@p.P16L 2 0.1915 ENSG00000075420 chr3:172112526-172112526;C/T missense_variant False TENM4@p.R2718Q 2 0.5295 ENSG00000149256 chr11:78658215-78658215;C/T missense_variant False ABCA2@p.H1659P 2 0.4559999999999999 ENSG00000107331 chr9:137012817-137012817;T/G missense_variant False MUC16@p.M82I 2 0.178 ENSG00000181143 chr19:8980893-8980893;C/A missense_variant False CHD1L@p.E175K 2 0.1144999999999999 ENSG00000131778 chr1:147259865-147259865;G/A missense_variant False ITPRID1@p.K1048N 2 0.179 ENSG00000180347 chr7:31652808-31652808;G/T missense_variant False SPAG5@p.E861Q 2 0.21 ENSG00000076382 chr17:28583615-28583615;C/G missense_variant False KRT85@p.L378P 2 0.219 ENSG00000135443 chr12:52362416-52362416;A/G missense_variant False INSM2@p.G515V 2 0.1619999999999999 ENSG00000168348 chr14:35535796-35535796;G/T missense_variant False MLST8@p.G97_R98insI 2 0.0265 ENSG00000167965 chr16:2206606-2206606;C/CATA inframe_insertion False MYH4@p.S1600P 2 0.1159999999999999 ENSG00000264424 chr17:10447985-10447985;A/G missense_variant False OR2T1@p.S263Y 2 0.2075 ENSG00000175143 chr1:248406935-248406935;C/A missense_variant False NME5@p.I23S 2 0.1905 ENSG00000112981 chr5:138138713-138138713;A/C missense_variant False TMEM247@p.Q128E 2 0.065 ENSG00000284701 chr2:46480669-46480669;C/G missense_variant False ANKRD36B@p.E902K 2 0.0355 ENSG00000196912 chr2:97513281-97513281;C/T missense_variant False POLE@p.N151Kfs*21 1 0.084 ENSG00000177084 chr12:132679622-132679622;A/AGCAGCAAACATATC frameshift_variant False PMPCB@p.D225G 1 0.71 ENSG00000105819 chr7:103304428-103304428;A/G missense_variant False PNMT@p.F94Lfs*14 1 0.176 ENSG00000141744 chr17:39669704-39669704;A/ATCTCGGCTCACTGCAACCTCCGCCTCCCCGGTTCAAG frameshift_variant False POLD1@p.A425V 1 0.034 ENSG00000062822 chr19:50406213-50406213;C/T missense_variant False POGLUT1@p.V321A 1 0.333 ENSG00000163389 chr3:119490715-119490715;T/C missense_variant False POGZ@p.Q247Pfs*68 1 0.214 ENSG00000143442 chr1:151428244-151428244;G/GT frameshift_variant False PODXL@p.K161Efs*14 1 0.429 ENSG00000128567 chr7:131511053-131511053;T/TC frameshift_variant False POGLUT2@p.K406E 1 0.228 ENSG00000134901 chr13:102789089-102789089;T/C missense_variant False POFUT2@p.T76_E77insR 1 0.064 ENSG00000186866 chr21:45285831-45285831;C/CCCT inframe_insertion False PNMA8B@p.K61E 1 0.15 ENSG00000204851 chr19:46495285-46495285;T/C missense_variant False PLS1@p.V517L 1 0.167 ENSG00000120756 chr3:142704506-142704506;G/C missense_variant False PLXNB1@p.A282V 1 0.00939 ENSG00000164050 chr3:48423767-48423767;G/A missense_variant False PLEKHH2@p.W550Gfs*8 1 0.154 ENSG00000152527 chr2:43700604-43700604;CT/C frameshift_variant False PLCB4@p.Q1048_E1049insPP 1 0.12 ENSG00000101333 chr20:9459705-9459705;A/AACCTCC inframe_insertion False PLCL2@p.T973I 1 0.063 ENSG00000154822 chr3:17014811-17014811;C/T missense_variant False PLD4@p.R207Qfs*51 1 0.4 ENSG00000166428 chr14:104930007-104930007;C/CAAGCTGGGCATGGTGGCCTGTGCCT frameshift_variant False PLEKHA5@p.A1211T 1 0.075 ENSG00000052126 chr12:19365986-19365986;G/A missense_variant False PLEKHA6@p.P812T 1 0.217 ENSG00000143850 chr1:204230562-204230562;G/T missense_variant False PLEKHA7@p.K1070E 1 0.188 ENSG00000166689 chr11:16789245-16789245;T/C missense_variant False PLEKHG4@p.E6K 1 0.213 ENSG00000196155 chr16:67280060-67280060;G/A missense_variant False PLEKHG5@p.A661_Y662insLSPPESGWGGQTPFH 1 0.978 ENSG00000171680 chr1:6469401-6469401;G/GTGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGA inframe_insertion False PLEKHG5@p.E640Q 1 0.042 ENSG00000171680 chr1:6469559-6469559;C/G missense_variant False PLEKHH1@p.A166V 1 0.071 ENSG00000054690 chr14:67562027-67562027;C/T missense_variant False PLEKHH1@p.P9L 1 0.103 ENSG00000054690 chr14:67541893-67541893;C/T missense_variant False PLEKHM2@p.R429H 1 0.697 ENSG00000116786 chr1:15727358-15727358;G/A missense_variant False PLXNA4@p.E58Tfs*17 1 0.157 ENSG00000221866 chr7:132508510-132508510;GTCCTGTCCTCTCA/G frameshift_variant False PLG@p.L8F 1 0.041 ENSG00000122194 chr6:160702326-160702326;C/T missense_variant False PLOD1@p.*728Rfs*100 1 0.516 ENSG00000083444 chr1:11974804-11974804;C/CGCGATCTCGGCTCACTGCCTCCTGGGTTCAAGTGATTCTGT frameshift_variant False PLOD1@p.P727Rfs*88 1 0.5 ENSG00000083444 chr1:11974803-11974803;C/CGG frameshift_variant False PLPP3@p.H63R 1 0.073 ENSG00000162407 chr1:56537064-56537064;T/C missense_variant False PLPP5@p.K108Nfs*2 1 0.286 ENSG00000147535 chr8:38267910-38267910;GT/G frameshift_variant False PLPP5@p.K108T 1 0.286 ENSG00000147535 chr8:38267912-38267912;T/G missense_variant False PLRG1@p.T353I 1 0.475 ENSG00000171566 chr4:154539198-154539198;G/A missense_variant False PLS1@p.R53H 1 0.06 ENSG00000120756 chr3:142669477-142669477;G/A missense_variant False PLSCR4@p.P63_Q64insNYFLMKCD 1 0.129 ENSG00000114698 chr3:146206690-146206690;G/GGTCACATTTCATAAGAAAATAATT inframe_insertion False PLXNA1@p.P749L 1 0.585 ENSG00000114554 chr3:127012091-127012091;C/T missense_variant False PLXNA3@p.R24C 1 0.554 ENSG00000130827 chrX:154460253-154460253;C/T missense_variant False POLG@p.G179V 1 0.875 ENSG00000140521 chr15:89333219-89333219;C/A missense_variant False POSTN@p.N207S 1 0.176 ENSG00000133110 chr13:37586915-37586915;T/C missense_variant False POLK@p.R760K 1 0.091 ENSG00000122008 chr5:75596972-75596972;G/A missense_variant False PPP3R1@p.Q128L 1 0.25 ENSG00000221823 chr2:68186550-68186550;T/A missense_variant False PPP4R1@p.K837R 1 0.329 ENSG00000154845 chr18:9550089-9550089;T/C missense_variant False PPP4R3A@p.I384R 1 0.125 ENSG00000100796 chr14:91475926-91475926;A/C missense_variant False PPP4R4@p.L183F 1 0.727 ENSG00000119698 chr14:94233683-94233683;C/T missense_variant False PPP5C@p.M191Lfs*6 1 0.081 ENSG00000011485 chr19:46376481-46376481;G/GCTTGAAGACGGCAAAGTGACAATCAGTTT frameshift_variant False PPP5C@p.T477I 1 0.75 ENSG00000011485 chr19:46390125-46390125;C/T missense_variant False PPP6R1@p.A695T 1 0.186 ENSG00000105063 chr19:55232117-55232117;C/T missense_variant False PPP6R1@p.K203Tfs*7 1 0.041 ENSG00000105063 chr19:55245130-55245130;T/TACACTAGGCCCTG frameshift_variant False PRAM1@p.V76F 1 0.304 ENSG00000133246 chr19:8499582-8499582;C/A missense_variant False PRAMEF13@p.N111K 1 0.571 ENSG00000279169 chr1:13198861-13198861;A/T missense_variant False PRAMEF15@p.R419Pfs*7 1 0.039 ENSG00000204501 chr1:13322076-13322076;G/GC frameshift_variant False PRAMEF33@p.L472F 1 0.147 ENSG00000237700 chr1:13308876-13308876;C/T missense_variant False PRAMEF4@p.N235Efs*71 1 0.179 ENSG00000243073 chr1:12882027-12882027;C/CT frameshift_variant False PRAMEF5@p.V442M 1 0.13 ENSG00000270601 chr1:13263004-13263004;G/A missense_variant False PRAMEF6@p.V442M 1 0.025 ENSG00000232423 chr1:12938782-12938782;C/T missense_variant False PRB2@p.A39_G59del 1 0.037 ENSG00000251655 chr12:11393900-11393900;GTCCTTGTGGCTTTCCTGGAGGAGATGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGC/G inframe_deletion False PRB3@p.P199T 1 0.11 ENSG00000197870 chr12:11267654-11267654;G/T missense_variant False PRDM10@p.R226C 1 0.571 ENSG00000170325 chr11:129944857-129944857;G/A missense_variant False PRDM12@p.A188G 1 0.231 ENSG00000130711 chr9:130668306-130668306;C/G missense_variant False PRDX3@p.G206Ifs*13 1 0.2 ENSG00000165672 chr10:119169279-119169279;C/CCTATG frameshift_variant False PREP@p.N91I 1 0.355 ENSG00000085377 chr6:105376238-105376238;T/A missense_variant False PREPL@p.S277N 1 0.088 ENSG00000138078 chr2:44338409-44338409;C/T missense_variant False PREX2@p.E424G 1 0.136 ENSG00000046889 chr8:68060711-68060711;A/G missense_variant False PRG2@p.C104F 1 0.161 ENSG00000186652 chr11:57389065-57389065;C/A missense_variant False PRG2@p.R113G 1 0.319 ENSG00000186652 chr11:57389039-57389039;T/C missense_variant False PRG4@p.T532A 1 0.192 ENSG00000116690 chr1:186307313-186307313;A/G missense_variant False PPP4C@p.D6N 1 0.03 ENSG00000149923 chr16:30076393-30076393;G/A missense_variant False PPP2R5E@p.Q434R 1 0.046 ENSG00000154001 chr14:63382059-63382059;T/C missense_variant False POLM@p.A98Sfs*73 1 0.122 ENSG00000122678 chr7:44080814-44080814;T/TG frameshift_variant False PPP2R1B@p.R183C 1 0.363 ENSG00000137713 chr11:111759944-111759944;G/A missense_variant False POLQ@p.P1219A 1 0.333 ENSG00000051341 chr3:121489276-121489276;G/C missense_variant False POLQ@p.S1805L 1 0.135 ENSG00000051341 chr3:121487517-121487517;G/A missense_variant False POLR1C@p.I72L 1 0.158 ENSG00000171453 chr6:43519405-43519405;A/C missense_variant False POLR2B@p.H970Q 1 0.647 ENSG00000047315 chr4:57024058-57024058;T/A missense_variant False POLR3D@p.T370Gfs*17 1 0.286 ENSG00000168495 chr8:22250425-22250425;TAGGAC/T frameshift_variant False POM121L2@p.S746C 1 0.2 ENSG00000158553 chr6:27309934-27309934;G/C missense_variant False POT1@p.N8Qfs*11 1 0.067 ENSG00000128513 chr7:124892368-124892368;T/TG frameshift_variant False POTED@p.N552Lfs*12 1 0.4 ENSG00000166351 chr21:13641464-13641464;A/ACTTTT frameshift_variant False POTEH@p.L328V 1 0.013 ENSG00000198062 chr22:15698722-15698722;T/G missense_variant False POU4F3@p.R185S 1 1.0 ENSG00000091010 chr5:146339980-146339980;C/A missense_variant False POU6F1@p.L319P 1 0.394 ENSG00000184271 chr12:51196818-51196818;A/G missense_variant False PPARA@p.H274N 1 0.435 ENSG00000186951 chr22:46231900-46231900;C/A missense_variant False PPARA@p.I188F 1 0.495 ENSG00000186951 chr22:46219865-46219865;A/T missense_variant False PPARG@p.D406A 1 0.368 ENSG00000132170 chr3:12433934-12433934;A/C missense_variant False PPARG@p.R182W 1 0.05 ENSG00000132170 chr3:12405896-12405896;C/T missense_variant False PPBP@p.A122E 1 0.321 ENSG00000163736 chr4:73987294-73987294;G/T missense_variant False PPIL6@p.H110Y 1 0.222 ENSG00000185250 chr6:109431249-109431249;G/A missense_variant False PPM1H@p.L174P 1 0.046 ENSG00000111110 chr12:62802051-62802051;A/G missense_variant False PPM1H@p.P301T 1 0.391 ENSG00000111110 chr12:62737555-62737555;G/T missense_variant False PPP1R15A@p.S471Y 1 0.667 ENSG00000087074 chr19:48874645-48874645;C/A missense_variant False PPP1R18@p.S265A 1 0.444 ENSG00000146112 chr6:30685226-30685226;A/C missense_variant False PPP1R32@p.R149K 1 0.424 ENSG00000162148 chr11:61484752-61484752;G/A missense_variant False PPP1R37@p.G346_L353del 1 0.444 ENSG00000104866 chr19:45144899-45144899;ATCGGGAACGAGGGTGTGCGGCACC/A inframe_deletion False PPP1R3A@p.D718H 1 0.144 ENSG00000154415 chr7:113878940-113878940;C/G missense_variant False PPP1R7@p.G216R 1 0.276 ENSG00000115685 chr2:241163333-241163333;G/A missense_variant False PLBD1@p.I298Nfs*25 1 0.27 ENSG00000121316 chr12:14511663-14511663;A/AAAGTACCTTTCCGTAGAACATCAGTTTGT frameshift_variant False PKP2@p.S251C 1 0.457 ENSG00000057294 chr12:32878129-32878129;T/A missense_variant False PLAAT4@p.Q159K 1 0.042 ENSG00000133321 chr11:63546236-63546236;C/A missense_variant False PECR@p.S114_P115insGI 1 0.098 ENSG00000115425 chr2:216065393-216065393;G/GAATGCC inframe_insertion False PDE3A@p.H354R 1 0.135 ENSG00000172572 chr12:20613492-20613492;A/G missense_variant False PDE4A@p.T139P 1 0.129 ENSG00000065989 chr19:10446312-10446312;A/C missense_variant False PDE4B@p.S113I 1 0.11 ENSG00000184588 chr1:66247516-66247516;G/T missense_variant False PDE4B@p.S614F 1 0.125 ENSG00000184588 chr1:66368965-66368965;C/T missense_variant False PDE4C@p.Q281H 1 0.737 ENSG00000285188 chr19:18219261-18219261;C/G missense_variant False PDE7A@p.H256D 1 0.228 ENSG00000205268 chr8:65727232-65727232;G/C missense_variant False PDGFRA@p.K964E 1 0.143 ENSG00000134853 chr4:54290322-54290322;A/G missense_variant True PDGFRA@p.V224M 1 0.06 ENSG00000134853 chr4:54264960-54264960;G/A missense_variant True PDGFRB@p.A713V 1 0.043 ENSG00000113721 chr5:150123087-150123087;G/A missense_variant False PDGFRB@p.T369Gfs*36 1 0.615 ENSG00000113721 chr5:150132773-150132773;G/GACTCAAACCA frameshift_variant False PDLIM3@p.L327F 1 0.028 ENSG00000154553 chr4:185502410-185502410;G/A missense_variant False PECAM1@p.F575S 1 0.058 ENSG00000261371 chr17:64356167-64356167;A/G missense_variant False PELO@p.H198Rfs*6 1 0.06 ENSG00000152684 chr5:52800986-52800986;C/CGG frameshift_variant False PGLYRP2@p.A309T 1 0.103 ENSG00000161031 chr19:15475745-15475745;C/T missense_variant False PELP1@p.G726Dfs*14 1 0.172 ENSG00000141456 chr17:4672814-4672814;C/CCCCTCGGGCACGATCACCACGCTGTCATCAGAGT frameshift_variant False PELP1@p.P652S 1 0.833 ENSG00000141456 chr17:4673037-4673037;G/A missense_variant False PELP1@p.P727Ffs*64 1 0.161 ENSG00000141456 chr17:4672812-4672812;G/GAA frameshift_variant False PENK@p.E179K 1 0.094 ENSG00000181195 chr8:56441541-56441541;C/T missense_variant False PEPD@p.A74V 1 0.019 ENSG00000124299 chr19:33511136-33511136;G/A missense_variant False PER2@p.A221_L231delinsV 1 0.483 ENSG00000132326 chr2:238271392-238271392;AGGAACTCCACAAACTTGGCATCGCTGAAGG/A inframe_deletion False PEX19@p.S149Ifs*21 1 0.333 ENSG00000162735 chr1:160282188-160282188;A/AATGAAGAGAAAAAGCAGAAATGGAAGTTCACAAACCTTTTCTGTGAT frameshift_variant False PEX5@p.K209Dfs*15 1 0.375 ENSG00000139197 chr12:7201823-7201823;C/CGACGTTCATAACTTCATCTT frameshift_variant False PEX6@p.I301Afs*14 1 0.039 ENSG00000124587 chr6:42975021-42975021;G/GAACTGCTGTAATACCAGCAGTTTGAGAGGCT frameshift_variant False PFKFB2@p.M99I 1 0.052 ENSG00000123836 chr1:207062705-207062705;G/A missense_variant False PFKFB2@p.M99K 1 0.052 ENSG00000123836 chr1:207062704-207062704;T/A missense_variant False PGAP4@p.R395W 1 0.154 ENSG00000165152 chr9:101475910-101475910;G/A missense_variant False PDE1B@p.S523Ifs*6 1 0.058 ENSG00000123360 chr12:54577275-54577275;G/GC frameshift_variant False PDE12@p.T276_C277insWMPGKTARC 1 0.366 ENSG00000174840 chr3:57557206-57557206;C/CGTGGATGCCTGGCAAGACGGCGCGGTG inframe_insertion False PDE12@p.G275_T276insS 1 0.366 ENSG00000174840 chr3:57557204-57557204;C/CTCA inframe_insertion False PCSK9@p.S373R 1 0.211 ENSG00000169174 chr1:55057453-55057453;C/A missense_variant False PCDHGA3@p.S250C 1 0.65 ENSG00000254245 chr5:141344781-141344781;A/T missense_variant False PCDHGA3@p.V505I 1 0.674 ENSG00000254245 chr5:141345546-141345546;G/A missense_variant False PCDHGA8@p.N236S 1 0.377 ENSG00000253767 chr5:141393520-141393520;A/G missense_variant False PCDHGB6@p.S598L 1 0.118 ENSG00000253305 chr5:141409995-141409995;C/T missense_variant False PCDHGC3@p.V2G 1 0.225 ENSG00000240184 chr5:141476121-141476121;T/G missense_variant False PCDHGC5@p.F372L 1 0.053 ENSG00000240764 chr5:141490354-141490354;T/C missense_variant False PCED1A@p.S103P 1 0.462 ENSG00000132635 chr20:2838980-2838980;A/G missense_variant False PCK2@p.E58K 1 0.113 ENSG00000100889 chr14:24097034-24097034;G/A missense_variant False PCLO@p.G3444Wfs*15 1 0.041 ENSG00000186472 chr7:82950259-82950259;A/ATGGGGGATTTGGGTGGGGAAGGAGCCAG frameshift_variant False PCLO@p.R1756C 1 0.3 ENSG00000186472 chr7:82955687-82955687;G/A missense_variant False PCLO@p.S3347T 1 0.314 ENSG00000186472 chr7:82950548-82950548;C/G missense_variant False PCLO@p.T1705K 1 0.435 ENSG00000186472 chr7:82955839-82955839;G/T missense_variant False PCM1@p.D1245E 1 0.041 ENSG00000078674 chr8:17972479-17972479;T/G missense_variant False PCM1@p.R972W 1 0.429 ENSG00000078674 chr8:17966057-17966057;A/T missense_variant False PCM1@p.S1238Rfs*5 1 0.5 ENSG00000078674 chr8:17972457-17972457;G/GACCCCGTCTC frameshift_variant False PCM1@p.S1238Wfs*2 1 0.5 ENSG00000078674 chr8:17972455-17972455;T/TTGGTG frameshift_variant False PCNT@p.A1795V 1 0.091 ENSG00000160299 chr21:46411457-46411457;C/T missense_variant False PCNT@p.D969V 1 0.039 ENSG00000160299 chr21:46366880-46366880;A/T missense_variant False PCNX2@p.M1541Wfs*15 1 0.06 ENSG00000135749 chr1:233017139-233017139;T/TTCCA frameshift_variant False PCNX2@p.Y1540Sfs*24 1 0.061 ENSG00000135749 chr1:233017141-233017141;T/TATGTACCAACACACAGGCATAAATGTAG frameshift_variant False PCNX3@p.E752V 1 0.216 ENSG00000197136 chr11:65622264-65622264;A/T missense_variant False PCSK1@p.A45Pfs*18 1 0.063 ENSG00000175426 chr5:96432910-96432910;C/CAAAAGAAGGCAACAGCCGG frameshift_variant False PCSK1@p.G565S 1 0.179 ENSG00000175426 chr5:96397365-96397365;C/T missense_variant False PCSK2@p.G311S 1 0.234 ENSG00000125851 chr20:17453787-17453787;G/A missense_variant False PCSK7@p.V676Wfs*26 1 0.045 ENSG00000160613 chr11:117206329-117206329;C/CCCCA frameshift_variant False PGAP6@p.C521W 1 0.545 ENSG00000129925 chr16:374769-374769;G/C missense_variant False PGM1@p.G136R 1 0.14 ENSG00000079739 chr1:63629584-63629584;G/A missense_variant False PLA2G7@p.D250Y 1 0.13 ENSG00000146070 chr6:46710574-46710574;C/A missense_variant False PKHD1@p.V1706_P1707insS 1 0.571 ENSG00000170927 chr6:52024691-52024691;G/GACT inframe_insertion False PITPNM1@p.R224C 1 0.363 ENSG00000110697 chr11:67500392-67500392;G/A missense_variant False PITRM1@p.T411A 1 0.045 ENSG00000107959 chr10:3158059-3158059;T/C missense_variant False PIWIL2@p.T451K 1 0.061 ENSG00000197181 chr8:22304191-22304191;C/A missense_variant False PKD1@p.A2918T 1 0.367 ENSG00000008710 chr16:2103305-2103305;C/T missense_variant False PKD1@p.H2656Q 1 0.547 ENSG00000008710 chr16:2105370-2105370;G/C missense_variant False PKD1@p.R3269Q 1 0.726 ENSG00000008710 chr16:2099978-2099978;C/T missense_variant False PKD1L1@p.D1293N 1 0.059 ENSG00000158683 chr7:47873918-47873918;C/T missense_variant False PKD2L1@p.H182Nfs*23 1 0.727 ENSG00000107593 chr10:100298749-100298749;G/GTT frameshift_variant False PKD2L1@p.V112M 1 0.273 ENSG00000107593 chr10:100329226-100329226;C/T missense_variant False PKDREJ@p.T1257I 1 0.495 ENSG00000130943 chr22:46259553-46259553;G/A missense_variant False PKHD1@p.C1352Afs*48 1 0.078 ENSG00000170927 chr6:52025756-52025756;A/AAGCCATTCCCTGTGGGAACAATGCACCGGATGAGC frameshift_variant False PKHD1@p.P1707Mfs*44 1 0.571 ENSG00000170927 chr6:52024692-52024692;G/GTCGTCTTAATCTGCATTTCAATCATT frameshift_variant False PKHD1L1@p.E1996K 1 0.463 ENSG00000205038 chr8:109448352-109448352;G/A missense_variant False PGR@p.G923E 1 0.684 ENSG00000082175 chr11:101039150-101039150;C/T missense_variant False PKHD1L1@p.G1855C 1 0.038 ENSG00000205038 chr8:109445432-109445432;G/T missense_variant False PKHD1L1@p.Q3918K 1 0.185 ENSG00000205038 chr8:109518229-109518229;C/A missense_variant False PKN2@p.F683_A684insSEYKNTNEMF 1 0.176 ENSG00000065243 chr1:88807693-88807693;G/GCTGAATATAAAAACACAAATGAGATGTTTT inframe_insertion False PKNOX2@p.L176Pfs*5 1 0.097 ENSG00000165495 chr11:125398000-125398000;CT/C frameshift_variant False PKP1@p.N453H 1 0.233 ENSG00000081277 chr1:201321987-201321987;A/C missense_variant False PKP2@p.E496Pfs*27 1 0.023 ENSG00000057294 chr12:32841099-32841099;A/AAGCACTTTGGT frameshift_variant False PRKAG2@p.S65Rfs*38 1 0.238 ENSG00000106617 chr7:151781423-151781423;G/GTCCTTTCTTCTGAAGCCTGCTTGCCT frameshift_variant False PKP4@p.P1136L 1 0.286 ENSG00000144283 chr2:158680505-158680505;C/T missense_variant False PKP4@p.T946_L965del 1 0.157 ENSG00000144283 chr2:158669824-158669824;GTCACCAGCAAAAACATGGAGAACGCAAAAGCCCTGGCCGACTCAGGAGGCATAGAGAAGC/G inframe_deletion False PLA2G12A@p.L172Nfs*22 1 0.045 ENSG00000123739 chr4:109714433-109714433;G/GTGGTAAATGTGGTTGTGAAAATTGAGTT frameshift_variant False PLA2G2D@p.R121H 1 0.277 ENSG00000117215 chr1:20114190-20114190;C/T missense_variant False PLA2G3@p.W258L 1 0.262 ENSG00000100078 chr22:31138285-31138285;C/A missense_variant False PIR@p.F278Lfs*22 1 0.37 ENSG00000087842 chrX:15385045-15385045;AC/A frameshift_variant False PILRB@p.L99Q 1 0.075 ENSG00000121716 chr7:100358921-100358921;T/A missense_variant False PIKFYVE@p.G1782E 1 0.077 ENSG00000115020 chr2:208347994-208347994;G/A missense_variant False PIK3R5@p.S810Dfs*24 1 0.07 ENSG00000141506 chr17:8880973-8880973;G/GCCGATGATCTGCACCTTGTCCACTTTGATCT frameshift_variant False PHC3@p.D780Tfs*2 1 0.658 ENSG00000173889 chr3:170113375-170113375;CT/C frameshift_variant False PHF12@p.A438V 1 0.103 ENSG00000109118 chr17:28913258-28913258;G/A missense_variant False PHF14@p.S598Tfs*7 1 0.4 ENSG00000106443 chr7:11036606-11036606;T/TACCTTAAGGA frameshift_variant False PHF20L1@p.I998K 1 0.071 ENSG00000129292 chr8:132845862-132845862;T/A missense_variant False PHGDH@p.D474N 1 0.365 ENSG00000092621 chr1:119743017-119743017;G/A missense_variant False PHLDB1@p.A268D 1 0.228 ENSG00000019144 chr11:118627626-118627626;C/A missense_variant False PHLDB1@p.A336_A337insLPSSWDYRCMPPHP 1 0.115 ENSG00000019144 chr11:118627831-118627831;A/ACTCCCGAGTAGCTGGGACTACAGGTGCATGCCACCACACCCG inframe_insertion False PHLDB1@p.P389T 1 0.24 ENSG00000019144 chr11:118627988-118627988;C/A missense_variant False PHLDB2@p.A712V 1 0.057 ENSG00000144824 chr3:111939479-111939479;C/T missense_variant False PHLPP2@p.G1104R 1 0.143 ENSG00000040199 chr16:71649552-71649552;C/T missense_variant False PHLPP2@p.T1069Rfs*10 1 0.057 ENSG00000040199 chr16:71649656-71649656;G/GCCAAAACACGACCCTC frameshift_variant False PHOX2B@p.P46L 1 0.084 ENSG00000109132 chr4:41748474-41748474;G/A missense_variant False PI4KA@p.C441S 1 0.029 ENSG00000241973 chr22:20805012-20805012;C/G missense_variant False PI4KA@p.R746G 1 0.193 ENSG00000241973 chr22:20796187-20796187;G/C missense_variant False PI4KA@p.V1851L 1 0.016 ENSG00000241973 chr22:20713301-20713301;C/G missense_variant False PIGA@p.E482Q 1 0.048 ENSG00000165195 chrX:15321517-15321517;C/G missense_variant False PIGK@p.D88H 1 0.5 ENSG00000142892 chr1:77169373-77169373;C/G missense_variant False PIGT@p.G310D 1 0.111 ENSG00000124155 chr20:45420589-45420589;G/A missense_variant False PIGU@p.H74D 1 0.333 ENSG00000101464 chr20:34645310-34645310;G/C missense_variant False PIK3C2G@p.Q213P 1 0.337 ENSG00000139144 chr12:18282719-18282719;A/C missense_variant False PIK3CD@p.P443Hfs*25 1 0.396 ENSG00000171608 chr1:9720005-9720005;C/CATTTCTCAAGAAGCCAGGAGGGCCAGGCGTGGTGGCTCATG frameshift_variant False PIK3CG@p.E772D 1 0.2 ENSG00000105851 chr7:106874728-106874728;A/C missense_variant False PIK3CG@p.F42Ifs*120 1 0.214 ENSG00000105851 chr7:106867684-106867684;G/GA frameshift_variant False PIK3CG@p.P450Lfs*12 1 0.5 ENSG00000105851 chr7:106868909-106868909;C/CTGTGGAAGAAGATTGCCAACAACTG frameshift_variant False PIK3R1@p.K506_E507insTLP 1 0.222 ENSG00000145675 chr5:68294627-68294627;A/AGACACTACC inframe_insertion True PRKACG@p.E122D 1 0.415 ENSG00000165059 chr9:69013727-69013727;C/A missense_variant False PRMT6@p.M373Wfs*17 1 0.489 ENSG00000198890 chr1:107057829-107057829;GC/G frameshift_variant False PRKAG3@p.G279C 1 0.27 ENSG00000115592 chr2:218827615-218827615;C/A missense_variant False RIPK2@p.A28S 1 0.118 ENSG00000104312 chr8:89758142-89758142;G/T missense_variant False RHBDF1@p.T610Wfs*11 1 0.25 ENSG00000007384 chr16:59484-59484;T/TCTCCA frameshift_variant False RHEBL1@p.V163_I164insSPGHYLSRTHPLGC 1 0.033 ENSG00000167550 chr12:49065166-49065166;G/GCACCCAAGAGGATGGGTCCTGGATAAATAATGCCCAGGACTC inframe_insertion False RHOT1@p.Q365Lfs*10 1 0.122 ENSG00000126858 chr17:32199543-32199543;C/CTGCGT frameshift_variant False RHOV@p.Q135L 1 0.37 ENSG00000104140 chr15:40873365-40873365;T/A missense_variant False RIBC1@p.R99Q 1 0.03 ENSG00000158423 chrX:53428379-53428379;G/A missense_variant False RIMBP3@p.M838L 1 0.143 ENSG00000275793 chr22:18608923-18608923;T/A missense_variant False RIMS1@p.P885Q 1 0.086 ENSG00000079841 chr6:72251324-72251324;C/A missense_variant False RIMS3@p.S107P 1 0.041 ENSG00000117016 chr1:40635956-40635956;A/G missense_variant False RIN3@p.T430M 1 0.328 ENSG00000100599 chr14:92652338-92652338;C/T missense_variant False RINT1@p.L77F 1 0.18 ENSG00000135249 chr7:105536705-105536705;C/T missense_variant False RIPK1@p.M497Ifs*11 1 0.09 ENSG00000137275 chr6:3105965-3105965;T/TAGTCCTGGTTTGCTCCTTCCCTGGA frameshift_variant False RIPK1@p.V47E 1 0.094 ENSG00000137275 chr6:3076963-3076963;T/A missense_variant False RIPOR1@p.H92R 1 0.366 ENSG00000039523 chr16:67539007-67539007;A/G missense_variant False RBM19@p.A249P 1 0.037 ENSG00000122965 chr12:113957877-113957877;C/G missense_variant False RIPOR1@p.S345G 1 0.029 ENSG00000039523 chr16:67541735-67541735;A/G missense_variant False RIPOR2@p.H425Pfs*17 1 0.424 ENSG00000111913 chr6:24843431-24843431;GGGAGCCTGTTGAGT/G frameshift_variant False RLF@p.E508G 1 0.044 ENSG00000117000 chr1:40236225-40236225;A/G missense_variant False RLF@p.K1866E 1 0.093 ENSG00000117000 chr1:40240298-40240298;A/G missense_variant False RMDN1@p.G49E 1 0.077 ENSG00000176623 chr8:86507096-86507096;C/T missense_variant False RNASE1@p.H76Q 1 0.545 ENSG00000129538 chr14:20801841-20801841;G/T missense_variant False RNASE2@p.V81F 1 0.192 ENSG00000169385 chr14:20956012-20956012;G/T missense_variant False RND3@p.D17N 1 0.213 ENSG00000115963 chr2:150487369-150487369;C/T missense_variant False RNF113B@p.R139W 1 0.05 ENSG00000139797 chr13:98176822-98176822;G/A missense_variant False RNF114@p.H159N 1 0.114 ENSG00000124226 chr20:49946212-49946212;C/A missense_variant False RNF139@p.R217G 1 0.138 ENSG00000170881 chr8:124486298-124486298;C/G missense_variant False RNF148@p.V175G 1 0.267 ENSG00000235631 chr7:122702227-122702227;A/C missense_variant False RHBDF1@p.I609T 1 0.25 ENSG00000007384 chr16:59486-59486;A/G missense_variant False RHBDF1@p.D278Sfs*3 1 0.089 ENSG00000007384 chr16:62659-62659;C/CCTGA frameshift_variant False RHAG@p.M172K 1 0.333 ENSG00000112077 chr6:49615749-49615749;A/T missense_variant False RGS7@p.I188V 1 0.079 ENSG00000182901 chr1:240868634-240868634;T/C missense_variant False RBM6@p.R681C 1 0.082 ENSG00000004534 chr3:50058473-50058473;C/T missense_variant False RBP3@p.R513C 1 0.383 ENSG00000265203 chr10:47350021-47350021;C/T missense_variant False RC3H2@p.H46L 1 0.045 ENSG00000056586 chr9:122897373-122897373;T/A missense_variant False RCBTB2@p.I210M 1 0.05 ENSG00000136161 chr13:48512061-48512061;T/C missense_variant False RCC2@p.C158_A159insCFFGVVRLSLLFFL 1 0.438 ENSG00000179051 chr1:17425589-17425589;C/CGAGGAAAAACAGAAGGGAAAGCCGAACAACTCCAAAAAAGCA inframe_insertion False RECQL5@p.D392Lfs*13 1 0.199 ENSG00000108469 chr17:75651241-75651241;C/CAA frameshift_variant False RECQL@p.I387N 1 0.174 ENSG00000004700 chr12:21475524-21475524;A/T missense_variant False REEP6@p.L105I 1 0.107 ENSG00000115255 chr19:1495572-1495572;C/A missense_variant False REEP6@p.L105Vfs*316 1 0.107 ENSG00000115255 chr19:1495570-1495570;T/TGGTGGTAATAAAGCAAGAG frameshift_variant False REG1B@p.N166Kfs*43 1 0.176 ENSG00000172023 chr2:79085219-79085219;G/GT frameshift_variant False RELB@p.A459V 1 0.062 ENSG00000104856 chr19:45037426-45037426;C/T missense_variant False RELCH@p.K273N 1 0.235 ENSG00000134444 chr18:62221458-62221458;G/C missense_variant False RELN@p.A1468V 1 0.424 ENSG00000189056 chr7:103574200-103574200;G/A missense_variant False RELN@p.P65H 1 0.369 ENSG00000189056 chr7:103989163-103989163;G/T missense_variant False RELN@p.V89E 1 0.6 ENSG00000189056 chr7:103917146-103917146;A/T missense_variant False RESF1@p.S1029C 1 0.118 ENSG00000174718 chr12:31984040-31984040;A/T missense_variant False RET@p.C157_S158insQELNDE 1 0.75 ENSG00000165731 chr10:43102475-43102475;C/CCAAGAACTGAATGATGAG inframe_insertion True REXO5@p.A73V 1 0.081 ENSG00000005189 chr16:20813269-20813269;C/T missense_variant False RFPL4A@p.S265G 1 0.309 ENSG00000223638 chr19:55763104-55763104;A/G missense_variant False RFPL4AL1@p.T277A 1 0.068 ENSG00000229292 chr19:55773144-55773144;A/G missense_variant False RFWD3@p.A609Vfs*31 1 0.042 ENSG00000168411 chr16:74628594-74628594;AG/A frameshift_variant False RFX4@p.R576G 1 0.252 ENSG00000111783 chr12:106747529-106747529;A/G missense_variant False RGPD8@p.F906L 1 0.344 ENSG00000169629 chr2:112390229-112390229;A/G missense_variant False RGS14@p.R194Q 1 0.5 ENSG00000169220 chr5:177367511-177367511;G/A missense_variant False RGS1@p.Q84L 1 0.094 ENSG00000090104 chr1:192576806-192576806;A/T missense_variant False RNF157@p.S245N 1 0.088 ENSG00000141576 chr17:76162610-76162610;C/T missense_variant False RNF167@p.V191A 1 0.276 ENSG00000108523 chr17:4943280-4943280;T/C missense_variant False RNF175@p.Q271H 1 0.081 ENSG00000145428 chr4:153712528-153712528;C/G missense_variant False RPL26@p.R108S 1 0.076 ENSG00000161970 chr17:8377678-8377678;C/G missense_variant False RPRD2@p.K1032E 1 0.401 ENSG00000163125 chr1:150472042-150472042;A/G missense_variant False RPS6KA3@p.G384Tfs*7 1 0.333 ENSG00000177189 chrX:20175242-20175242;C/CATAGACCAGAGTT frameshift_variant False RPTN@p.K735N 1 0.071 ENSG00000215853 chr1:152154894-152154894;T/A missense_variant False RPTOR@p.I271Kfs*40 1 0.092 ENSG00000141564 chr17:80754166-80754166;ATC/A frameshift_variant False RPTOR@p.S884R 1 0.139 ENSG00000141564 chr17:80923517-80923517;C/A missense_variant False RRBP1@p.A590Ifs*104 1 0.178 ENSG00000125844 chr20:17658725-17658725;TGGCAGCTGCGTCTGCC/T frameshift_variant False RREB1@p.S161F 1 0.534 ENSG00000124782 chr6:7210860-7210860;C/T missense_variant False RRP9@p.H201Vfs*81 1 0.098 ENSG00000114767 chr3:51936472-51936472;G/GAATTTTGTACTGCCCACATGCCCATCTGCCCCTGAGCAGATGCAGAC frameshift_variant False RSBN1L@p.H687Y 1 0.234 ENSG00000187257 chr7:77778686-77778686;C/T missense_variant False RSF1@p.R963P 1 0.071 ENSG00000048649 chr11:77691171-77691171;C/G missense_variant False RTL6@p.R68P 1 0.148 ENSG00000188636 chr22:44497354-44497354;C/G missense_variant False RTN4IP1@p.G93V 1 0.194 ENSG00000130347 chr6:106622966-106622966;C/A missense_variant False RUFY3@p.L443P 1 0.046 ENSG00000018189 chr4:70789583-70789583;T/C missense_variant False RUVBL2@p.T333M 1 0.192 ENSG00000183207 chr19:49011307-49011307;C/T missense_variant False RYBP@p.S193P 1 0.615 ENSG00000163602 chr3:72378465-72378465;A/G missense_variant False RYR1@p.R1024H 1 0.08 ENSG00000196218 chr19:38466291-38466291;G/A missense_variant False RYR1@p.R4136C 1 0.333 ENSG00000196218 chr19:38561236-38561236;C/T missense_variant False RYR2@p.E3815D 1 0.323 ENSG00000198626 chr1:237760997-237760997;A/C missense_variant False RYR2@p.N427Kfs*5 1 0.032 ENSG00000198626 chr1:237445510-237445510;A/AAC frameshift_variant False RYR2@p.R1051C 1 0.123 ENSG00000198626 chr1:237550628-237550628;C/T missense_variant False RYR2@p.R2100L 1 0.5 ENSG00000198626 chr1:237627939-237627939;G/T missense_variant False RYR2@p.Y4924H 1 0.184 ENSG00000198626 chr1:237831527-237831527;T/C missense_variant False RYR3@p.D4750N 1 0.318 ENSG00000198838 chr15:33859680-33859680;G/A missense_variant False RYR3@p.G888C 1 0.215 ENSG00000198838 chr15:33628558-33628558;G/T missense_variant False S100A12@p.A52T 1 0.464 ENSG00000163221 chr1:153373952-153373952;C/T missense_variant False RPL29@p.H49Lfs*36 1 0.111 ENSG00000162244 chr3:51994083-51994083;T/TCTCATGA frameshift_variant False RPL13@p.T170S 1 0.214 ENSG00000167526 chr16:89562914-89562914;A/T missense_variant False RNF17@p.C110S 1 0.851 ENSG00000132972 chr13:24778305-24778305;T/A missense_variant False RPL11@p.G103E 1 0.6 ENSG00000142676 chr1:23694703-23694703;G/A missense_variant False RNF17@p.Y1245D 1 0.923 ENSG00000132972 chr13:24859123-24859123;T/G missense_variant False RNF180@p.D334E 1 0.184 ENSG00000164197 chr5:64214328-64214328;C/G missense_variant False RNF19A@p.H253Q 1 0.185 ENSG00000034677 chr8:100275077-100275077;G/C missense_variant False RNF214@p.G468V 1 0.135 ENSG00000167257 chr11:117281961-117281961;G/T missense_variant False RNF214@p.R147Kfs*15 1 0.203 ENSG00000167257 chr11:117238931-117238931;C/CAA frameshift_variant False RNF31@p.L121I 1 0.087 ENSG00000092098 chr14:24148279-24148279;T/A missense_variant False RNF31@p.L204Pfs*30 1 0.6 ENSG00000092098 chr14:24148850-24148850;G/GC frameshift_variant False RNF31@p.Q176E 1 0.267 ENSG00000092098 chr14:24148672-24148672;C/G missense_variant False RNF6@p.L593V 1 0.08 ENSG00000127870 chr13:26214105-26214105;A/C missense_variant False ROBO3@p.P64S 1 0.188 ENSG00000154134 chr11:124868831-124868831;C/T missense_variant False ROM1@p.L310H 1 0.176 ENSG00000149489 chr11:62614712-62614712;T/A missense_variant False ROR1@p.L538F 1 0.066 ENSG00000185483 chr1:64177653-64177653;C/T missense_variant False ROR1@p.S35A 1 0.204 ENSG00000185483 chr1:64009316-64009316;T/G missense_variant False ROR2@p.C728Y 1 0.137 ENSG00000169071 chr9:91724311-91724311;C/T missense_variant False RORB@p.G161S 1 0.371 ENSG00000198963 chr9:74642659-74642659;G/A missense_variant False RP1@p.S1197R 1 0.582 ENSG00000104237 chr8:54627473-54627473;T/A missense_variant False RP1L1@p.G1004V 1 0.413 ENSG00000183638 chr8:10611087-10611087;C/A missense_variant False RP2@p.V258G 1 0.057 ENSG00000102218 chrX:46859992-46859992;T/G missense_variant False RPA2@p.Q53Lfs*13 1 0.333 ENSG00000117748 chr1:27907242-27907242;T/TCCACAGTTCCAAA frameshift_variant False RPA4@p.L25M 1 0.12 ENSG00000204086 chrX:96884383-96884383;C/A missense_variant False RPE@p.M71I 1 0.791 ENSG00000197713 chr2:210015983-210015983;G/A missense_variant False RPGRIP1@p.T486P 1 0.408 ENSG00000092200 chr14:21320166-21320166;A/C missense_variant False RPH3A@p.N8Qfs*48 1 0.182 ENSG00000089169 chr12:112828338-112828338;G/GTCAGATGACTTGCT frameshift_variant False RPH3A@p.S7Kfs*45 1 0.182 ENSG00000089169 chr12:112828336-112828336;C/CAA frameshift_variant False RPL10L@p.K141N 1 0.513 ENSG00000165496 chr14:46651314-46651314;C/A missense_variant False RBM6@p.E405Q 1 0.091 ENSG00000004534 chr3:49968638-49968638;G/C missense_variant False RBFA@p.G329S 1 0.813 ENSG00000101546 chr18:80046108-80046108;G/A missense_variant False PRKAR1B@p.N187Lfs*16 1 0.4 ENSG00000188191 chr7:596295-596295;T/TGAATCGGCCCATAGCACCCCCGCCGCCCACAG frameshift_variant False PTEN@p.H64P 1 0.533 ENSG00000171862 chr10:87925539-87925539;A/C missense_variant True PSG7@p.Q278E 1 0.07 ENSG00000221878 chr19:42926594-42926594;G/C missense_variant False PSIP1@p.N78H 1 0.222 ENSG00000164985 chr9:15490042-15490042;T/G missense_variant False PSMA6@p.G218_V220dup 1 0.667 ENSG00000100902 chr14:35314419-35314419;A/AAGTTGGAGT inframe_insertion False PSMC3@p.L311V 1 0.167 ENSG00000165916 chr11:47420681-47420681;G/C missense_variant False PSMD1@p.K862N 1 0.21 ENSG00000173692 chr2:231165888-231165888;G/T missense_variant False PSMD2@p.A167_K168insS 1 0.085 ENSG00000175166 chr3:184301868-184301868;T/TTCA inframe_insertion False PSMD5@p.R341H 1 0.233 ENSG00000095261 chr9:120821449-120821449;C/T missense_variant False PSME4@p.D1565H 1 0.161 ENSG00000068878 chr2:53887295-53887295;C/G missense_variant False PSRC1@p.K154R 1 0.393 ENSG00000134222 chr1:109281677-109281677;T/C missense_variant False PTBP3@p.G253S 1 0.467 ENSG00000119314 chr9:112250974-112250974;C/T missense_variant False PTCH1@p.G876R 1 0.075 ENSG00000185920 chr9:95461933-95461933;C/T missense_variant True PTCHD4@p.L205V 1 0.371 ENSG00000244694 chr6:48008928-48008928;G/C missense_variant False PTGER3@p.N308S 1 0.145 ENSG00000050628 chr1:71012459-71012459;T/C missense_variant False RBBP8@p.D476Y 1 0.139 ENSG00000101773 chr18:22993253-22993253;G/T missense_variant False PTGR1@p.G319R 1 0.333 ENSG00000106853 chr9:111563156-111563156;C/T missense_variant False PTGS1@p.G277C 1 0.03 ENSG00000095303 chr9:122383575-122383575;G/T missense_variant False PTGS1@p.P541L 1 0.205 ENSG00000095303 chr9:122392366-122392366;C/T missense_variant False PTGS1@p.R60Pfs*85 1 0.158 ENSG00000095303 chr9:122377982-122377982;CG/C frameshift_variant False PTH2R@p.R531W 1 0.544 ENSG00000144407 chr2:208493597-208493597;A/T missense_variant False PTPDC1@p.K376N 1 0.25 ENSG00000158079 chr9:94097694-94097694;G/C missense_variant False PTPN13@p.S165P 1 0.045 ENSG00000163629 chr4:86689137-86689137;T/C missense_variant False PTPN14@p.G1055V 1 0.152 ENSG00000152104 chr1:214369564-214369564;C/A missense_variant False PTPRB@p.A2134V 1 0.568 ENSG00000127329 chr12:70532138-70532138;G/A missense_variant False PTPRB@p.M453T 1 0.208 ENSG00000127329 chr12:70594625-70594625;A/G missense_variant False PTPRD@p.N292S 1 0.055 ENSG00000153707 chr9:8521363-8521363;T/C missense_variant False PTPRF@p.R1436T 1 0.6 ENSG00000142949 chr1:43617847-43617847;G/C missense_variant False PSD4@p.T977Vfs*49 1 0.033 ENSG00000125637 chr2:113201172-113201172;G/GGTCTGCAAAGGGGCGGGGGCTCCCACATGGAC frameshift_variant False PSD4@p.L598P 1 0.846 ENSG00000125637 chr2:113192544-113192544;T/C missense_variant False PRUNE2@p.N1986I 1 0.25 ENSG00000106772 chr9:76706317-76706317;T/A missense_variant False PRUNE2@p.L1657V 1 0.37 ENSG00000106772 chr9:76707305-76707305;G/C missense_variant False PRKAR2B@p.A148V 1 0.369 ENSG00000005249 chr7:107128258-107128258;C/T missense_variant False PRKCA@p.K396E 1 0.085 ENSG00000154229 chr17:66735618-66735618;A/G missense_variant False PRKCB@p.L183H 1 0.157 ENSG00000166501 chr16:24092809-24092809;T/A missense_variant False PRKCZ@p.Y126D 1 0.276 ENSG00000067606 chr1:2135303-2135303;T/G missense_variant False PRKD1@p.L406V 1 0.192 ENSG00000184304 chr14:29634516-29634516;G/C missense_variant False PRKDC@p.A2032T 1 0.667 ENSG00000253729 chr8:47859724-47859724;C/T missense_variant False PRMT2@p.E94K 1 0.135 ENSG00000160310 chr21:46644441-46644441;G/A missense_variant False PCDHGA11@p.P569L 1 0.025 ENSG00000253873 chr5:141422933-141422933;C/T missense_variant False PROM1@p.H855Y 1 0.361 ENSG00000007062 chr4:15979414-15979414;G/A missense_variant False PROX2@p.G559E 1 0.286 ENSG00000119608 chr14:74855235-74855235;C/T missense_variant False PRPF19@p.T287P 1 0.161 ENSG00000110107 chr11:60899274-60899274;T/G missense_variant False PRPF38A@p.S268G 1 0.036 ENSG00000134748 chr1:52414814-52414814;A/G missense_variant False PRPF39@p.L444F 1 0.386 ENSG00000185246 chr14:45110577-45110577;G/T missense_variant False PRPF6@p.A314Tfs*26 1 0.241 ENSG00000101161 chr20:63999674-63999674;T/TAACTCAGGACATCAGGACTGATAGTTCTTACATTG frameshift_variant False PRPF8@p.P937S 1 0.034 ENSG00000174231 chr17:1675683-1675683;G/A missense_variant False PRR12@p.A135V 1 0.094 ENSG00000126464 chr19:49594739-49594739;C/T missense_variant False PRR16@p.S274I 1 0.548 ENSG00000184838 chr5:120686615-120686615;G/T missense_variant False PRR33@p.N470H 1 0.45 ENSG00000283787 chr11:1889177-1889177;T/G missense_variant False PRRC1@p.H109R 1 0.167 ENSG00000164244 chr5:127524753-127524753;A/G missense_variant False PRRC2A@p.P784Q 1 0.571 ENSG00000204469 chr6:31630687-31630687;C/A missense_variant False PRRG3@p.R166Qfs*14 1 0.19 ENSG00000130032 chrX:151700824-151700824;C/CG frameshift_variant False PRSS16@p.L465H 1 0.211 ENSG00000112812 chr6:27255049-27255049;T/A missense_variant False PRSS16@p.L97P 1 0.082 ENSG00000112812 chr6:27248899-27248899;T/C missense_variant False PRSS54@p.L325Q 1 0.111 ENSG00000103023 chr16:58280438-58280438;A/T missense_variant False PRSS55@p.M320I 1 0.692 ENSG00000184647 chr8:10538694-10538694;G/T missense_variant False PTPRH@p.Q503R 1 0.189 ENSG00000080031 chr19:55198825-55198825;T/C missense_variant False PTPRH@p.S710P 1 0.111 ENSG00000080031 chr19:55196651-55196651;A/G missense_variant False PTPRN2@p.E214_Q225del 1 0.294 ENSG00000155093 chr7:158167166-158167166;CTGGAGCTGGCCGAGGGTCCGCGGCAGGAGGTCCTCG/C inframe_deletion False RABGEF1@p.R192M 1 0.126 ENSG00000154710 chr7:66795572-66795572;G/T missense_variant False RALBP1@p.H572Lfs*9 1 0.4 ENSG00000017797 chr18:9535682-9535682;T/TCTCC frameshift_variant False RALBP1@p.N571S 1 0.4 ENSG00000017797 chr18:9535681-9535681;A/G missense_variant False RALGAPB@p.H382Tfs*2 1 0.079 ENSG00000170471 chr20:38517589-38517589;A/AC frameshift_variant False RAMP2@p.L163F 1 0.192 ENSG00000131477 chr17:42762811-42762811;C/T missense_variant False RANBP2@p.T3026P 1 0.078 ENSG00000153201 chr2:108782569-108782569;A/C missense_variant False RANBP2@p.T537I 1 0.406 ENSG00000153201 chr2:108751682-108751682;C/T missense_variant False RANBP6@p.P632S 1 0.051 ENSG00000137040 chr9:6013714-6013714;G/A missense_variant False RAPGEF4@p.M714K 1 0.122 ENSG00000091428 chr2:173018788-173018788;T/A missense_variant False RAPGEF6@p.S343Efs*10 1 0.5 ENSG00000158987 chr5:131505438-131505438;T/TC frameshift_variant False RARG@p.S371N 1 0.097 ENSG00000172819 chr12:53213150-53213150;C/T missense_variant False RASA2@p.I353L 1 0.143 ENSG00000155903 chr3:141571442-141571442;A/C missense_variant False RASAL2@p.A43G 1 0.353 ENSG00000075391 chr1:178094620-178094620;C/G missense_variant False RASEF@p.R659H 1 0.641 ENSG00000165105 chr9:82992970-82992970;C/T missense_variant False RASGRF1@p.A76V 1 0.375 ENSG00000058335 chr15:79090272-79090272;G/A missense_variant False RASGRF1@p.E429Cfs*23 1 0.5 ENSG00000058335 chr15:79027837-79027837;C/CGAAAACGCTTCTGACTCACAGAGACA frameshift_variant False RASGRF2@p.A34_E35insY 1 0.083 ENSG00000113319 chr5:80960839-80960839;C/CATA inframe_insertion False RASSF7@p.L91V 1 0.2 ENSG00000099849 chr11:562225-562225;C/G missense_variant False RASSF9@p.T63R 1 0.196 ENSG00000198774 chr12:85805822-85805822;G/C missense_variant False RB1@p.A74Efs*4 1 0.29 ENSG00000139687 chr13:48307352-48307352;C/CAG frameshift_variant True RB1@p.K574Ifs*11 1 0.5 ENSG00000139687 chr13:48453017-48453017;A/AT frameshift_variant True RB1@p.L64Ffs*46 1 0.263 ENSG00000139687 chr13:48307331-48307331;A/AT frameshift_variant True RB1@p.L719del 1 0.622 ENSG00000139687 chr13:48463778-48463778;CCTT/C inframe_deletion True RB1CC1@p.E252V 1 0.322 ENSG00000023287 chr8:52674092-52674092;T/A missense_variant False RBAK@p.H391R 1 0.074 ENSG00000146587 chr7:5064628-5064628;A/G missense_variant False RBAK@p.S148L 1 0.026 ENSG00000146587 chr7:5063899-5063899;C/T missense_variant False RAE1@p.D73Y 1 1.0 ENSG00000101146 chr20:57356467-57356467;G/T missense_variant False RABEP1@p.S186Y 1 0.105 ENSG00000029725 chr17:5338047-5338047;C/A missense_variant False PTPRO@p.R410Q 1 0.261 ENSG00000151490 chr12:15504031-15504031;G/A missense_variant False RAB8A@p.I99L 1 0.333 ENSG00000167461 chr19:16125518-16125518;A/C missense_variant False PTPRO@p.T33N 1 0.4 ENSG00000151490 chr12:15483996-15483996;C/A missense_variant False PTPRQ@p.L1572Nfs*4 1 0.087 ENSG00000139304 chr12:80605162-80605162;T/TAATAGGTC frameshift_variant False PTPRQ@p.L1572_I1573insQ 1 0.083 ENSG00000139304 chr12:80605164-80605164;T/TACA inframe_insertion False PTPRT@p.V254A 1 0.219 ENSG00000196090 chr20:42756560-42756560;A/G missense_variant False PTPRZ1@p.S991P 1 0.251 ENSG00000106278 chr7:122012017-122012017;T/C missense_variant False PTRH1@p.G162C 1 0.086 ENSG00000187024 chr9:127714261-127714261;C/A missense_variant False PUF60@p.L479_G481del 1 1.0 ENSG00000179950 chr8:143816756-143816756;CCCCTTCCAG/C inframe_deletion False PUM2@p.R707H 1 0.15 ENSG00000055917 chr2:20263298-20263298;C/T missense_variant False PURA@p.E305Cfs*25 1 0.125 ENSG00000185129 chr5:140115092-140115092;A/AATGCC frameshift_variant False PUS7@p.Q360* 1 0.353 ENSG00000091127 chr7:105481139-105481139;ATAGCTTGCTG/A frameshift_variant False PUS7@p.R661C 1 0.057 ENSG00000091127 chr7:105457795-105457795;G/A missense_variant False PXDN@p.P1295H 1 0.126 ENSG00000130508 chr2:1643436-1643436;G/T missense_variant False PXN@p.S274L 1 0.212 ENSG00000089159 chr12:120221633-120221633;G/A missense_variant False PYCR3@p.A89T 1 0.129 ENSG00000104524 chr8:143607024-143607024;C/T missense_variant False PYGM@p.A696T 1 0.033 ENSG00000068976 chr11:64750467-64750467;C/T missense_variant False PYGO2@p.E387K 1 0.17 ENSG00000163348 chr1:154958841-154958841;C/T missense_variant False QKI@p.V90G 1 0.647 ENSG00000112531 chr6:163455405-163455405;T/G missense_variant False QRICH1@p.P590L 1 0.009274 ENSG00000198218 chr3:49044407-49044407;G/A missense_variant False QSER1@p.G451V 1 0.1 ENSG00000060749 chr11:32932610-32932610;G/T missense_variant False QSER1@p.S1180C 1 0.154 ENSG00000060749 chr11:32934797-32934797;C/G missense_variant False RAB11FIP1@p.T1196A 1 0.333 ENSG00000156675 chr8:37870467-37870467;T/C missense_variant False RAB11FIP4@p.R613W 1 0.276 ENSG00000131242 chr17:31531655-31531655;C/T missense_variant False RAB33B@p.P27S 1 0.086 ENSG00000172007 chr4:139454274-139454274;C/T missense_variant False RAB3GAP1@p.D714E 1 0.079 ENSG00000115839 chr2:135153729-135153729;T/A missense_variant False RAB3GAP1@p.R847W 1 0.398 ENSG00000115839 chr2:135163034-135163034;C/T missense_variant False PCDHGA12@p.P192R 1 0.196 ENSG00000253159 chr5:141431334-141431334;C/G missense_variant False A1CF@p.S132Tfs*27 1 0.182 ENSG00000148584 chr10:50836283-50836283;C/CAACTG frameshift_variant False PCDHGA11@p.P363A 1 0.184 ENSG00000253873 chr5:141422314-141422314;C/G missense_variant False MYO18B@p.G494D 1 0.136 ENSG00000133454 chr22:25769397-25769397;G/A missense_variant False MYO18B@p.S2124T 1 0.164 ENSG00000133454 chr22:26004756-26004756;G/C missense_variant False MYO1A@p.I867T 1 0.053 ENSG00000166866 chr12:57029864-57029864;A/G missense_variant False MYO1E@p.E410G 1 0.417 ENSG00000157483 chr15:59214274-59214274;T/C missense_variant False MYO5A@p.A267T 1 0.214 ENSG00000197535 chr15:52408098-52408098;C/T missense_variant False MYO5B@p.G336Efs*23 1 0.2 ENSG00000167306 chr18:49980492-49980492;TC/T frameshift_variant False MYO5C@p.G1545S 1 0.171 ENSG00000128833 chr15:52205052-52205052;C/T missense_variant False MYO7A@p.K542Qfs*5 1 0.15 ENSG00000137474 chr11:77162914-77162914;T/TC frameshift_variant False MYO7B@p.M305Kfs*88 1 0.034 ENSG00000169994 chr2:127578196-127578196;ATG/A frameshift_variant False MYO9A@p.I987K 1 0.3 ENSG00000066933 chr15:71902981-71902981;A/T missense_variant False MYOCD@p.V871A 1 0.086 ENSG00000141052 chr17:12763295-12763295;T/C missense_variant False MYOM2@p.E1179Q 1 0.1 ENSG00000036448 chr8:2123333-2123333;G/C missense_variant False MYOM3@p.I1067N 1 0.3 ENSG00000142661 chr1:24068318-24068318;A/T missense_variant False MYPN@p.T1001S 1 0.397 ENSG00000138347 chr10:68194438-68194438;A/T missense_variant False MYT1L@p.I789T 1 0.107 ENSG00000186487 chr2:1889395-1889395;A/G missense_variant False MZF1@p.C602Y 1 0.185 ENSG00000099326 chr19:58562472-58562472;C/T missense_variant False NAA20@p.A80_P81insYN 1 0.086 ENSG00000173418 chr20:20026854-20026854;C/CTATAAT inframe_insertion False NAA20@p.P81_E82insSYS 1 0.086 ENSG00000173418 chr20:20026855-20026855;C/CCCAGCTACT inframe_insertion False NAB2@p.D235Y 1 0.023 ENSG00000166886 chr12:57091744-57091744;G/T missense_variant False NACA2@p.A126G 1 0.13 ENSG00000253506 chr17:61590804-61590804;G/C missense_variant False NACAD@p.E277D 1 0.083 ENSG00000136274 chr7:45085349-45085349;C/A missense_variant False NADK2@p.S106F 1 0.125 ENSG00000152620 chr5:36227549-36227549;G/A missense_variant False NAP1L4@p.G320R 1 0.33 ENSG00000205531 chr11:2954604-2954604;C/G missense_variant False NAPSA@p.E169Dfs*23 1 0.038 ENSG00000131400 chr19:50361102-50361102;C/CATTTAAGCTCTGGGACTTCGAA frameshift_variant False NAT2@p.F244C 1 0.625 ENSG00000156006 chr8:18400734-18400734;T/G missense_variant False NAV3@p.V2029F 1 0.412 ENSG00000067798 chr12:78190013-78190013;G/T missense_variant False MYO18B@p.K1855N 1 0.348 ENSG00000133454 chr22:25946184-25946184;G/T missense_variant False MYO15A@p.E3366K 1 0.048 ENSG00000091536 chr17:18171651-18171651;G/A missense_variant False NBPF1@p.C489Vfs*6 1 0.211 ENSG00000219481 chr1:16580871-16580871;A/ATAAACACTTCTAC frameshift_variant False MYO10@p.S1226Lfs*25 1 0.169 ENSG00000145555 chr5:16694496-16694496;G/GC frameshift_variant False MYBPC1@p.G508R 1 0.684 ENSG00000196091 chr12:101651389-101651389;G/A missense_variant False MYBPC2@p.N787K 1 0.123 ENSG00000086967 chr19:50458609-50458609;C/A missense_variant False MYCBPAP@p.N732I 1 0.39 ENSG00000136449 chr17:50527312-50527312;A/T missense_variant False MYCL@p.N167S 1 0.183 ENSG00000116990 chr1:39897967-39897967;T/C missense_variant False MYCN@p.S399F 1 0.192 ENSG00000134323 chr2:15945898-15945898;C/T missense_variant False MYH10@p.E508del 1 0.094 ENSG00000133026 chr17:8542188-8542188;TTCC/T inframe_deletion False MYH13@p.S1752F 1 0.039 ENSG00000006788 chr17:10306979-10306979;G/A missense_variant False MYH14@p.R1454W 1 0.437 ENSG00000105357 chr19:50281663-50281663;C/T missense_variant False MYH1@p.K205R 1 0.241 ENSG00000109061 chr17:10514044-10514044;T/C missense_variant False MYH1@p.K924Q 1 0.113 ENSG00000109061 chr17:10503170-10503170;T/G missense_variant False MYH2@p.D951N 1 0.143 ENSG00000125414 chr17:10529921-10529921;C/T missense_variant False MYH2@p.S1576T 1 0.067 ENSG00000125414 chr17:10525002-10525002;A/T missense_variant False MYH2@p.S1576Y 1 0.067 ENSG00000125414 chr17:10525001-10525001;G/T missense_variant False MYH6@p.I838T 1 0.107 ENSG00000197616 chr14:23394240-23394240;A/G missense_variant False MYH7@p.Q1654H 1 0.189 ENSG00000092054 chr14:23415824-23415824;C/A missense_variant False MYH7@p.R858C 1 0.193 ENSG00000092054 chr14:23424876-23424876;G/A missense_variant False MYH7@p.V1819M 1 0.064 ENSG00000092054 chr14:23415099-23415099;C/T missense_variant False MYH7B@p.I124Afs*67 1 0.063 ENSG00000078814 chr20:34980603-34980603;C/CGGCCACAGAGGGTGTGGTGTGG frameshift_variant False MYH7B@p.V122_T123insR 1 0.051 ENSG00000078814 chr20:34980601-34980601;C/CAGG inframe_insertion False MYH9@p.E1735G 1 0.193 ENSG00000100345 chr22:36285728-36285728;T/C missense_variant False MYL4@p.P29Q 1 0.132 ENSG00000198336 chr17:47209508-47209508;C/A missense_variant False MYLK4@p.V179L 1 0.061 ENSG00000145949 chr6:2685306-2685306;C/G missense_variant False MYLK@p.G1907V 1 0.121 ENSG00000065534 chr3:123614130-123614130;C/A missense_variant False MYLK@p.N1052S 1 0.072 ENSG00000065534 chr3:123700313-123700313;T/C missense_variant False MYMK@p.D64Tfs*25 1 0.105 ENSG00000187616 chr9:133520240-133520240;G/GGGAGGGAGCCCTTTCACTTTTTCCTTTGTATGCCT frameshift_variant False NBAS@p.D1805Rfs*13 1 0.091 ENSG00000151779 chr2:15275796-15275796;T/TAAGAAGTACTTGGTTATCCACAACTACTAATCTA frameshift_variant False NCAM1@p.I207Lfs*2 1 0.235 ENSG00000149294 chr11:113206170-113206170;CA/C frameshift_variant False NMRK2@p.R134Vfs*17 1 0.375 ENSG00000077009 chr19:3941073-3941073;C/CTGTACTCCAACCTGGGCAACAGAGCGAGATT frameshift_variant False NEMF@p.M69L 1 0.231 ENSG00000165525 chr14:49851589-49851589;T/A missense_variant False NEURL4@p.V106* 1 0.276 ENSG00000215041 chr17:7327850-7327850;AC/A frameshift_variant False NEUROD1@p.H206Pfs*38 1 0.105 ENSG00000162992 chr2:181678244-181678244;T/TG frameshift_variant False NEUROD6@p.A113V 1 0.344 ENSG00000164600 chr7:31338931-31338931;G/A missense_variant False NEXMIF@p.I1369L 1 0.819 ENSG00000050030 chrX:74740452-74740452;T/A missense_variant False NF1@p.R711H 1 0.058 ENSG00000196712 chr17:31226565-31226565;G/A missense_variant True NF1@p.R816Q 1 0.1 ENSG00000196712 chr17:31229062-31229062;G/A missense_variant True NFX1@p.W192C 1 0.143 ENSG00000086102 chr9:33294970-33294970;G/C missense_variant False NGRN@p.A78V 1 0.158 ENSG00000182768 chr15:90266356-90266356;C/T missense_variant False NGRN@p.T159Dfs*21 1 0.14 ENSG00000182768 chr15:90271386-90271386;T/TG frameshift_variant False NGRN@p.T159Ifs*38 1 0.155 ENSG00000182768 chr15:90271387-90271387;A/ATCCGCCTATCTCGG frameshift_variant False NHLRC1@p.R293G 1 0.7 ENSG00000187566 chr6:18121730-18121730;T/C missense_variant False NHSL1@p.A1393T 1 0.115 ENSG00000135540 chr6:138424725-138424725;C/T missense_variant False NHSL1@p.V1205Afs*68 1 0.133 ENSG00000135540 chr6:138430731-138430731;A/AAGAACCGAGGTGCCAGGGTGCGTGG frameshift_variant False NIT1@p.G173Afs*11 1 0.2 ENSG00000158793 chr1:161119878-161119878;G/GCCTTCCCCCCAGGGAATGT frameshift_variant False NKAIN3@p.V47F 1 0.112 ENSG00000185942 chr8:62579623-62579623;G/T missense_variant False NKTR@p.I1160_V1161insLRKMWP 1 0.5 ENSG00000114857 chr3:42639183-42639183;T/TACTGAGGAAAATGTGGCC inframe_insertion False NLRP13@p.E701V 1 0.365 ENSG00000173572 chr19:55911715-55911715;T/A missense_variant False NLRP13@p.Q90H 1 0.073 ENSG00000173572 chr19:55932042-55932042;C/G missense_variant False NLRP14@p.K70E 1 0.333 ENSG00000158077 chr11:7038794-7038794;A/G missense_variant False NLRP1@p.S919_A920insSSARPPKPKE 1 0.067 ENSG00000091592 chr17:5539527-5539527;C/CTTCTTTAGGTTTGGGAGGCCTGGCTGAGGA inframe_insertion False NLRP1@p.T1343A 1 0.25 ENSG00000091592 chr17:5517776-5517776;T/C missense_variant False NLRP3@p.S434F 1 0.094 ENSG00000162711 chr1:247424750-247424750;C/T missense_variant False NLRP4@p.R991M 1 0.304 ENSG00000160505 chr19:55881574-55881574;G/T missense_variant False NLRP7@p.V604Afs*37 1 0.667 ENSG00000167634 chr19:54939008-54939008;A/AATAGATAAGG frameshift_variant False NLRP9@p.I923_A924insTAHCNLCLPGSS 1 0.881 ENSG00000185792 chr19:55711874-55711874;A/ACTGGAACCTGGGAGGCAGAGATTGCAGTGAGCTGTG inframe_insertion False NETO2@p.M137L 1 0.392 ENSG00000171208 chr16:47128397-47128397;T/A missense_variant False NELFB@p.L151P 1 0.382 ENSG00000188986 chr9:137256370-137256370;T/C missense_variant False NCAM2@p.V554I 1 0.1 ENSG00000154654 chr21:21466611-21466611;G/A missense_variant False NEK9@p.A40S 1 0.219 ENSG00000119638 chr14:75126804-75126804;C/A missense_variant False NCAN@p.F351Y 1 0.273 ENSG00000130287 chr19:19225250-19225250;T/A missense_variant False NCAPD3@p.R1095G 1 0.046 ENSG00000151503 chr11:134168559-134168559;T/C missense_variant False NCBP1@p.W594C 1 0.286 ENSG00000136937 chr9:97663032-97663032;G/C missense_variant False NCBP2L@p.H56Q 1 0.294 ENSG00000170935 chrX:107794388-107794388;T/A missense_variant False NCF2@p.A90T 1 0.211 ENSG00000116701 chr1:183577697-183577697;C/T missense_variant False NCKAP1L@p.R258H 1 0.163 ENSG00000123338 chr12:54511840-54511840;G/A missense_variant False NCKAP5@p.Q131H 1 0.048 ENSG00000176771 chr2:132994188-132994188;C/A missense_variant False NCOA3@p.Q1358E 1 0.113 ENSG00000124151 chr20:47652531-47652531;C/G missense_variant False NCOA5@p.R177K 1 0.063 ENSG00000124160 chr20:46067154-46067154;C/T missense_variant False NCOA6@p.L286W 1 0.714 ENSG00000198646 chr20:34757891-34757891;A/C missense_variant False NCOR1@p.E1723G 1 0.211 ENSG00000141027 chr17:16064121-16064121;T/C missense_variant True NCOR2@p.R341H 1 0.025 ENSG00000196498 chr12:124430648-124430648;C/T missense_variant False NDN@p.P34S 1 0.063 ENSG00000182636 chr15:23687118-23687118;G/A missense_variant False NDST4@p.K604I 1 0.333 ENSG00000138653 chr4:114852730-114852730;T/A missense_variant False NDUFA10@p.H202Pfs*25 1 0.151 ENSG00000130414 chr2:240014803-240014803;T/TG frameshift_variant False NDUFB4@p.P15Afs*2 1 0.667 ENSG00000065518 chr3:120596400-120596400;T/TA frameshift_variant False NEB@p.D3014E 1 0.105 ENSG00000183091 chr2:151636287-151636287;G/C missense_variant False NEB@p.L5724I 1 0.172 ENSG00000183091 chr2:151570341-151570341;G/T missense_variant False NEB@p.S1442Wfs*39 1 0.148 ENSG00000183091 chr2:151671205-151671205;T/TCTCGCTCAGTACAAAAGAAAAAGAATTGACACCA frameshift_variant False NEB@p.S216Vfs*12 1 0.176 ENSG00000183091 chr2:151723452-151723452;CT/C frameshift_variant False NEB@p.Y1092C 1 0.5 ENSG00000183091 chr2:151678168-151678168;T/C missense_variant False NEDD1@p.T560P 1 0.818 ENSG00000139350 chr12:96945716-96945716;A/C missense_variant False NEFM@p.P429Q 1 0.415 ENSG00000104722 chr8:24917141-24917141;C/A missense_variant False NEK3@p.M111I 1 0.2 ENSG00000136098 chr13:52152669-52152669;C/T missense_variant False NEK4@p.S404A 1 0.378 ENSG00000114904 chr3:52752090-52752090;A/C missense_variant False MYBPC1@p.G508E 1 0.684 ENSG00000196091 chr12:101651390-101651390;G/A missense_variant False MVB12A@p.S237P 1 0.033 ENSG00000141971 chr19:17424627-17424627;T/C missense_variant False MUCL3@p.A898E 1 0.04 ENSG00000168631 chr6:30951157-30951157;C/A missense_variant False MRPL12@p.A33V 1 0.095 ENSG00000262814 chr17:81704267-81704267;C/T missense_variant False MRPL21@p.P147S 1 0.176 ENSG00000197345 chr11:68893413-68893413;G/A missense_variant False MRTFA@p.K874R 1 0.059 ENSG00000196588 chr22:40411865-40411865;T/C missense_variant False MRTFB@p.Q721H 1 0.897 ENSG00000186260 chr16:14247423-14247423;G/C missense_variant False MS4A14@p.L355R 1 0.459 ENSG00000166928 chr11:60416032-60416032;T/G missense_variant False MS4A2@p.L11R 1 0.333 ENSG00000149534 chr11:60088797-60088797;T/G missense_variant False MS4A2@p.T77A 1 0.252 ENSG00000149534 chr11:60090378-60090378;A/G missense_variant False MS4A5@p.I53F 1 0.219 ENSG00000166930 chr11:60430799-60430799;A/T missense_variant False MSH3@p.P498S 1 1.0 ENSG00000113318 chr5:80728889-80728889;C/T missense_variant False MSL2@p.D564E 1 0.527 ENSG00000174579 chr3:136151189-136151189;A/C missense_variant False MSMP@p.E49Q 1 0.271 ENSG00000215183 chr9:35753754-35753754;C/G missense_variant False MSTO1@p.S301Ffs*25 1 0.429 ENSG00000125459 chr1:155612505-155612505;T/TTTCCCTTCCG frameshift_variant False MT-ATP6@p.I76T 1 0.108 ENSG00000198899 chrM:8753-8753;T/C missense_variant False MT-CO1@p.A477T 1 0.667 ENSG00000198804 chrM:7332-7332;G/A missense_variant False MT-CO1@p.E40G 1 0.05 ENSG00000198804 chrM:6022-6022;A/G missense_variant False MT-CO1@p.G225E 1 0.318 ENSG00000198804 chrM:6577-6577;G/A missense_variant False MT-CO1@p.M71T 1 0.289 ENSG00000198804 chrM:6115-6115;T/C missense_variant False MT-CO1@p.T408A 1 0.619 ENSG00000198804 chrM:7125-7125;A/G missense_variant False MT-CO1@p.V28I 1 0.188 ENSG00000198804 chrM:5985-5985;G/A missense_variant False MT-CO1@p.W186L 1 0.044 ENSG00000198804 chrM:6460-6460;G/T missense_variant False MT-CO3@p.G170S 1 0.926 ENSG00000198938 chrM:9714-9714;G/A missense_variant False MT-CO3@p.T228M 1 0.162 ENSG00000198938 chrM:9889-9889;C/T missense_variant False MT-CYB@p.F187S 1 0.895 ENSG00000198727 chrM:15306-15306;T/C missense_variant False MT-CYB@p.L281P 1 0.036 ENSG00000198727 chrM:15588-15588;T/C missense_variant False MT-CYB@p.L82P 1 0.174 ENSG00000198727 chrM:14991-14991;T/C missense_variant False MT-ND1@p.L100P 1 0.128 ENSG00000198888 chrM:3605-3605;T/C missense_variant False MRPL12@p.T194I 1 0.142 ENSG00000262814 chr17:81707224-81707224;C/T missense_variant False MRPL10@p.Q228_L229insFLYC 1 0.128 ENSG00000159111 chr17:47824306-47824306;G/GGCAGTAAAGGAA inframe_insertion False MUC5B@p.G4181V 1 0.024 ENSG00000117983 chr11:1249422-1249422;G/T missense_variant False MRPL10@p.Q228Lfs*35 1 0.128 ENSG00000159111 chr17:47824308-47824308;T/TAATACATGTACAGCACTCA frameshift_variant False MOCS3@p.Y187Sfs*54 1 0.076 ENSG00000124217 chr20:50959399-50959399;G/GGTCAATTATAC frameshift_variant False MOCS3@p.Y187Sfs*9 1 0.076 ENSG00000124217 chr20:50959401-50959401;T/TCAATAAAGCTGGAAGA frameshift_variant False MORC4@p.L772W 1 0.069 ENSG00000133131 chrX:106942576-106942576;A/C missense_variant False MORN1@p.G343V 1 0.115 ENSG00000116151 chr1:2357440-2357440;C/A missense_variant False MOV10@p.L35Afs*6 1 0.857 ENSG00000155363 chr1:112675013-112675013;G/GC frameshift_variant False MOV10@p.L35_R36insETGFLHIL 1 0.813 ENSG00000155363 chr1:112675014-112675014;G/GTTGGAAACGGGATTTCTTCATATT inframe_insertion False MOV10L1@p.L206Wfs*4 1 0.345 ENSG00000073146 chr22:50108714-50108714;AC/A frameshift_variant False MPHOSPH9@p.I1009L 1 0.8 ENSG00000051825 chr12:123163018-123163018;T/G missense_variant False MPL@p.C583R 1 0.188 ENSG00000117400 chr1:43352611-43352611;T/C missense_variant True MPL@p.D295G 1 0.286 ENSG00000117400 chr1:43340417-43340417;A/G missense_variant True MPL@p.S415F 1 0.258 ENSG00000117400 chr1:43346870-43346870;C/T missense_variant True MPO@p.N715K 1 0.206 ENSG00000005381 chr17:58270749-58270749;G/T missense_variant False MPRIP@p.G1246D 1 0.092 ENSG00000133030 chr17:17165328-17165328;G/A missense_variant False MPZL1@p.S258L 1 0.18 ENSG00000197965 chr1:167787884-167787884;C/T missense_variant False MPZL2@p.A163E 1 0.12 ENSG00000149573 chr11:118260150-118260150;G/T missense_variant False MRE11@p.V284A 1 0.167 ENSG00000020922 chr11:94470637-94470637;A/G missense_variant False MRGPRD@p.Y276Wfs*? 1 0.432 ENSG00000172938 chr11:68980160-68980160;T/TAATATTTTCCCCCAACC frameshift_variant False MRGPRE@p.P92L 1 0.852 ENSG00000184350 chr11:3228525-3228525;G/A missense_variant False MRM1@p.V16L 1 0.188 ENSG00000278619 chr17:36601856-36601856;G/C missense_variant False MROH1@p.G519Pfs*23 1 0.029 ENSG00000179832 chr8:144239141-144239141;C/CTCCTG frameshift_variant False MROH2A@p.M1190L 1 0.253 ENSG00000185038 chr2:233822179-233822179;A/C missense_variant False MROH2A@p.Q106L 1 0.093 ENSG00000185038 chr2:233789537-233789537;A/T missense_variant False MROH2B@p.T1272A 1 0.519 ENSG00000171495 chr5:41005581-41005581;T/C missense_variant False MROH7@p.L1065I 1 0.124 ENSG00000184313 chr1:54701230-54701230;C/A missense_variant False MROH7@p.N1064K 1 0.134 ENSG00000184313 chr1:54701229-54701229;C/A missense_variant False MT-ND4@p.A318T 1 0.4 ENSG00000198886 chrM:11711-11711;G/A missense_variant False MT-ND4@p.H21Tfs*? 1 0.032 ENSG00000198886 chrM:10813-10813;C/CA frameshift_variant False MT-ND4@p.K93Nfs*? 1 0.457 ENSG00000198886 chrM:11031-11031;GA/G frameshift_variant False MT-ND4@p.V205M 1 0.395 ENSG00000198886 chrM:11372-11372;G/A missense_variant False MUC16@p.T13018I 1 0.231 ENSG00000181143 chr19:8898997-8898997;G/A missense_variant False MUC16@p.V5243E 1 0.068 ENSG00000181143 chr19:8961042-8961042;A/T missense_variant False MUC16@p.V9442G 1 0.036 ENSG00000181143 chr19:8948445-8948445;A/C missense_variant False MUC16@p.Y6613C 1 0.053 ENSG00000181143 chr19:8956932-8956932;T/C missense_variant False MUC17@p.N2194T 1 0.03 ENSG00000169876 chr7:101037997-101037997;A/C missense_variant False MUC17@p.T1213I 1 0.044 ENSG00000169876 chr7:101035054-101035054;C/T missense_variant False MUC17@p.T962S 1 0.038 ENSG00000169876 chr7:101034301-101034301;C/G missense_variant False MUC17@p.V241F 1 0.062 ENSG00000169876 chr7:101032137-101032137;G/T missense_variant False MUC22@p.G1344E 1 0.045 ENSG00000261272 chr6:31029462-31029462;G/A missense_variant False MUC3A@p.G817D 1 0.118 ENSG00000169894 chr7:100954229-100954229;G/A missense_variant False MUC3A@p.L2652P 1 0.161 ENSG00000169894 chr7:100959734-100959734;T/C missense_variant False MUC4@p.A1422T 1 0.05 ENSG00000145113 chr3:195787316-195787316;C/T missense_variant False MUC4@p.A3438T 1 0.013 ENSG00000145113 chr3:195781268-195781268;C/T missense_variant False MUC4@p.A4206T 1 0.099 ENSG00000145113 chr3:195778964-195778964;C/T missense_variant False MUC4@p.H1869Q 1 0.058 ENSG00000145113 chr3:195785973-195785973;G/C missense_variant False MUC4@p.P3698H 1 0.147 ENSG00000145113 chr3:195780487-195780487;G/T missense_variant False MUC4@p.P3794H 1 0.5 ENSG00000145113 chr3:195780199-195780199;G/T missense_variant False MUC4@p.T1183M 1 0.048 ENSG00000145113 chr3:195788032-195788032;G/A missense_variant False MUC4@p.T2075S 1 0.027 ENSG00000145113 chr3:195785357-195785357;T/A missense_variant False MUC4@p.T3254A 1 0.057 ENSG00000145113 chr3:195781820-195781820;T/C missense_variant False MUC4@p.V1865A 1 0.013 ENSG00000145113 chr3:195785986-195785986;A/G missense_variant False MUC4@p.V2809A 1 0.102 ENSG00000145113 chr3:195783154-195783154;A/G missense_variant False MUC5AC@p.R2388T 1 0.167 ENSG00000215182 chr11:1185308-1185308;G/C missense_variant False MUC5AC@p.S3042T 1 0.093 ENSG00000215182 chr11:1187270-1187270;G/C missense_variant False MUC5B@p.D2939E 1 0.207 ENSG00000117983 chr11:1245697-1245697;C/A missense_variant False MUC16@p.S1525I 1 0.54 ENSG00000181143 chr19:8976565-8976565;C/A missense_variant False MUC16@p.R12149H 1 0.467 ENSG00000181143 chr19:8917670-8917670;C/T missense_variant False MUC16@p.P7676L 1 0.06 ENSG00000181143 chr19:8953743-8953743;G/A missense_variant False MTMR9@p.R226K 1 0.2 ENSG00000104643 chr8:11306275-11306275;G/A missense_variant False MT-ND4L@p.C98S 1 0.25 ENSG00000212907 chrM:10762-10762;G/C missense_variant False MT-ND5@p.S345P 1 0.154 ENSG00000198786 chrM:13369-13369;T/C missense_variant False MT1E@p.C26Wfs*13 1 0.043 ENSG00000169715 chr16:56626514-56626514;G/GGCTCCATTCTGCTTTC frameshift_variant False MTA1@p.R282S 1 0.6 ENSG00000182979 chr14:105460857-105460857;G/C missense_variant False MTF1@p.T526P 1 0.273 ENSG00000188786 chr1:37822312-37822312;T/G missense_variant False MTG1@p.G155D 1 0.049 ENSG00000148824 chr10:133399572-133399572;G/A missense_variant False MTMR10@p.C285R 1 0.225 ENSG00000166912 chr15:30958945-30958945;A/G missense_variant False MTMR11@p.S331A 1 0.093 ENSG00000014914 chr1:149932325-149932325;A/C missense_variant False MTMR2@p.K410N 1 0.261 ENSG00000087053 chr11:95845109-95845109;C/G missense_variant False MTMR3@p.C1153_N1154insVATGFSWI 1 1.0 ENSG00000100330 chr22:30025663-30025663;T/TGTGGCCACTGGGTTTTCCTGGATC inframe_insertion False MTMR7@p.L388P 1 0.254 ENSG00000003987 chr8:17305946-17305946;A/G missense_variant False MTPAP@p.L209F 1 0.298 ENSG00000107951 chr10:30336958-30336958;G/A missense_variant False MUC16@p.P4745S 1 0.119 ENSG00000181143 chr19:8962537-8962537;G/A missense_variant False MUC12@p.G3988D 1 0.026 ENSG00000205277 chr7:101002526-101002526;G/A missense_variant False MUC12@p.Q3635P 1 0.028 ENSG00000205277 chr7:101001467-101001467;A/C missense_variant False MUC12@p.T1642N 1 0.025 ENSG00000205277 chr7:100995488-100995488;C/A missense_variant False MUC16@p.D8060N 1 0.125 ENSG00000181143 chr19:8952592-8952592;C/T missense_variant False MUC16@p.D9497Y 1 0.161 ENSG00000181143 chr19:8948281-8948281;C/A missense_variant False MUC16@p.E13565K 1 0.025 ENSG00000181143 chr19:8888806-8888806;C/T missense_variant False MUC16@p.E7648A 1 0.072 ENSG00000181143 chr19:8953827-8953827;T/G missense_variant False MUC16@p.F10618V 1 0.048 ENSG00000181143 chr19:8939103-8939103;A/C missense_variant False MUC16@p.I1047T 1 0.051 ENSG00000181143 chr19:8977999-8977999;A/G missense_variant False MUC16@p.L13511I 1 0.569 ENSG00000181143 chr19:8889777-8889777;G/T missense_variant False MUC16@p.M6917T 1 0.139 ENSG00000181143 chr19:8956020-8956020;A/G missense_variant False NMRAL1@p.V208_G209insSTSQS 1 0.13 ENSG00000153406 chr16:4463755-4463755;C/CACTTTGGGAGGTGGA inframe_insertion False NNMT@p.A198V 1 0.072 ENSG00000166741 chr11:114312275-114312275;C/T missense_variant False PCDHGA11@p.D445V 1 0.156 ENSG00000253873 chr5:141422561-141422561;A/T missense_variant False OR7D2@p.L194Tfs*151 1 0.051 ENSG00000188000 chr19:9186358-9186358;T/TTTACGTATGAAAGATTAGACAAAATGAG frameshift_variant False OR7G2@p.S246C 1 0.34 ENSG00000170923 chr19:9102507-9102507;G/C missense_variant False OR8B2@p.F104I 1 0.135 ENSG00000284680 chr11:124383034-124383034;A/T missense_variant False OR8B2@p.V281M 1 0.075 ENSG00000284680 chr11:124382503-124382503;C/T missense_variant False OR8D1@p.A215V 1 0.085 ENSG00000196341 chr11:124310123-124310123;G/A missense_variant False OR8I2@p.L186R 1 0.27 ENSG00000172154 chr11:56093864-56093864;T/G missense_variant False ORC4@p.R359K 1 0.75 ENSG00000115947 chr2:147938192-147938192;C/T missense_variant False ORM2@p.V116A 1 0.22 ENSG00000228278 chr9:114331585-114331585;T/C missense_variant False OSBPL10@p.E658Q 1 0.389 ENSG00000144645 chr3:31668766-31668766;C/G missense_variant False OSBPL2@p.I182Hfs*12 1 0.122 ENSG00000130703 chr20:62279201-62279201;A/AC frameshift_variant False OSBPL9@p.K89E 1 0.288 ENSG00000117859 chr1:51714026-51714026;A/G missense_variant False OSGIN1@p.V281L 1 0.063 ENSG00000140961 chr16:83965414-83965414;G/T missense_variant False OSTF1@p.T142P 1 0.133 ENSG00000134996 chr9:75137553-75137553;A/C missense_variant False OTOG@p.H1310Qfs*119 1 0.667 ENSG00000188162 chr11:17605908-17605908;A/AATTAC frameshift_variant False OTOG@p.L318Q 1 0.114 ENSG00000188162 chr11:17558272-17558272;T/A missense_variant False OTOG@p.V1311F 1 0.667 ENSG00000188162 chr11:17605910-17605910;G/T missense_variant False OTOGL@p.D422V 1 0.207 ENSG00000165899 chr12:80252181-80252181;A/T missense_variant False OTOGL@p.M1538R 1 0.128 ENSG00000165899 chr12:80336425-80336425;T/G missense_variant False OTOGL@p.S766P 1 0.4 ENSG00000165899 chr12:80266522-80266522;T/C missense_variant False OTOP3@p.E29G 1 0.5 ENSG00000182938 chr17:74941459-74941459;A/G missense_variant False OTUD4@p.N145Mfs*11 1 0.632 ENSG00000164164 chr4:145162701-145162701;AT/A frameshift_variant False OTUD7B@p.K494E 1 0.154 ENSG00000264522 chr1:149944909-149944909;T/C missense_variant False OTX1@p.A268P 1 0.246 ENSG00000115507 chr2:63056053-63056053;G/C missense_variant False OVGP1@p.A352Gfs*10 1 0.082 ENSG00000085465 chr1:111416424-111416424;G/GC frameshift_variant False OVGP1@p.T450N 1 0.167 ENSG00000085465 chr1:111415152-111415152;G/T missense_variant False OVOL2@p.C140Tfs*53 1 0.028 ENSG00000125850 chr20:18041627-18041627;A/AGACAGGGTTTCACTATGTTGGCCAGGCTGGT frameshift_variant False OR7E24@p.F167C 1 0.178 ENSG00000237521 chr19:9251543-9251543;T/G missense_variant False OR7D2@p.F193Ifs*143 1 0.051 ENSG00000188000 chr19:9186357-9186357;C/CA frameshift_variant False OXTR@p.R113H 1 0.444 ENSG00000180914 chr3:8767850-8767850;C/T missense_variant False OR6P1@p.V297L 1 0.045 ENSG00000186440 chr1:158562716-158562716;C/G missense_variant False OR4C12@p.Q51R 1 0.313 ENSG00000221954 chr11:49982350-49982350;T/C missense_variant False OR4D2@p.A78Mfs*10 1 0.15 ENSG00000255713 chr17:58169884-58169884;A/ACCATGTTGGCCGGG frameshift_variant False OR4E2@p.M59Cfs*5 1 0.223 ENSG00000221977 chr14:21665251-21665251;AC/A frameshift_variant False OR4F17@p.F255L 1 0.25 ENSG00000176695 chr19:111443-111443;C/G missense_variant False OR4M1@p.A161G 1 0.11 ENSG00000176299 chr14:19780804-19780804;C/G missense_variant False OR4N2@p.K89Q 1 0.136 ENSG00000176294 chr14:19827713-19827713;A/C missense_variant False OR51E2@p.G15S 1 0.375 ENSG00000167332 chr11:4682669-4682669;C/T missense_variant False OR51G1@p.L189Q 1 0.132 ENSG00000278870 chr11:4923774-4923774;A/T missense_variant False OR52A1@p.N44H 1 0.108 ENSG00000182070 chr11:5152240-5152240;T/G missense_variant False OR52M1@p.S195Tfs*10 1 0.054 ENSG00000197790 chr11:4545773-4545773;A/ACT frameshift_variant False OR56A1@p.M107I 1 0.239 ENSG00000180934 chr11:6027372-6027372;C/A missense_variant False OR56B4@p.I273Ffs*58 1 0.061 ENSG00000180919 chr11:6108593-6108593;AG/A frameshift_variant False OR5B12@p.F89L 1 0.182 ENSG00000172362 chr11:58439885-58439885;G/T missense_variant False OR5B3@p.S261R 1 0.023 ENSG00000172769 chr11:58402627-58402627;G/C missense_variant False OR5B3@p.Y257F 1 0.142 ENSG00000172769 chr11:58402640-58402640;T/A missense_variant False OR5D14@p.S77T 1 0.3 ENSG00000186113 chr11:55795784-55795784;T/A missense_variant False OR5F1@p.T160I 1 0.369 ENSG00000149133 chr11:55994147-55994147;G/A missense_variant False OR5I1@p.T256I 1 0.5 ENSG00000167825 chr11:55935634-55935634;G/A missense_variant False OR5J2@p.S162N 1 0.263 ENSG00000174957 chr11:56177102-56177102;G/A missense_variant False OR5K2@p.R261K 1 0.75 ENSG00000231861 chr3:98498462-98498462;G/A missense_variant False OR5K4@p.L255F 1 0.041 ENSG00000196098 chr3:98354616-98354616;C/T missense_variant False OR6C3@p.F47Lfs*20 1 0.051 ENSG00000205329 chr12:55331836-55331836;AC/A frameshift_variant False OR6C3@p.T276I 1 0.302 ENSG00000205329 chr12:55332527-55332527;C/T missense_variant False OR6C4@p.P181H 1 0.031 ENSG00000179626 chr12:55551768-55551768;C/A missense_variant False OR6K6@p.I210F 1 0.203 ENSG00000180433 chr1:158755515-158755515;A/T missense_variant False OXER1@p.L258Rfs*28 1 0.368 ENSG00000162881 chr2:42763407-42763407;A/ACCACCACCATGGCCAGCACACGCATGGCCCTCTGC frameshift_variant False P2RX3@p.R28L 1 0.288 ENSG00000109991 chr11:57338633-57338633;G/T missense_variant False NNT@p.A73V 1 0.106 ENSG00000112992 chr5:43612974-43612974;C/T missense_variant False PATZ1@p.L118Qfs*197 1 0.272 ENSG00000100105 chr22:31345250-31345250;A/ACCTGCCTCGGCCTCCCAACGTGCTGGGATTATAGGCATGAGCCACT frameshift_variant False PAXIP1@p.P689R 1 0.027 ENSG00000157212 chr7:154962382-154962382;G/C missense_variant False PBXIP1@p.E519V 1 0.162 ENSG00000163346 chr1:154946118-154946118;T/A missense_variant False PCCA@p.A672T 1 0.05 ENSG00000175198 chr13:100515541-100515541;G/A missense_variant False PCDH15@p.I1058V 1 0.417 ENSG00000150275 chr10:53940926-53940926;T/C missense_variant False PCDH17@p.G502D 1 0.176 ENSG00000118946 chr13:57634051-57634051;G/A missense_variant False PCDH19@p.S152R 1 0.289 ENSG00000165194 chrX:100408142-100408142;G/T missense_variant False PCDH9@p.A781Kfs*15 1 0.104 ENSG00000184226 chr13:67226104-67226104;T/TTTGAGTTTTTGATTGTTTTGTTG frameshift_variant False PCDHA10@p.D446Efs*133 1 0.5 ENSG00000250120 chr5:140857384-140857384;G/GA frameshift_variant False PCDHA10@p.R414S 1 0.025 ENSG00000250120 chr5:140857288-140857288;C/A missense_variant False PCDHA10@p.V447Sfs*132 1 0.5 ENSG00000250120 chr5:140857386-140857386;C/CA frameshift_variant False PCDHA13@p.G625R 1 0.084 ENSG00000239389 chr5:140884141-140884141;G/C missense_variant False PCDHA6@p.K25E 1 0.222 ENSG00000081842 chr5:140828164-140828164;A/G missense_variant False PCDHA6@p.W24S 1 0.222 ENSG00000081842 chr5:140828162-140828162;G/C missense_variant False PCDHA7@p.N468T 1 0.182 ENSG00000204963 chr5:140835786-140835786;A/C missense_variant False SACS@p.G1548R 1 0.303 ENSG00000151835 chr13:23339234-23339234;C/T missense_variant False PCDHAC2@p.D828G 1 0.833 ENSG00000243232 chr5:140969249-140969249;A/G missense_variant False PCDHB12@p.R530C 1 0.026 ENSG00000120328 chr5:141210495-141210495;C/T missense_variant False PCDHB14@p.A679G 1 0.396 ENSG00000120327 chr5:141225541-141225541;C/G missense_variant False PCDHB15@p.V460I 1 0.133 ENSG00000113248 chr5:141246956-141246956;G/A missense_variant False PCDHB1@p.D27Mfs*22 1 0.069 ENSG00000171815 chr5:141051544-141051544;TG/T frameshift_variant False PCDHB2@p.V475A 1 0.092 ENSG00000112852 chr5:141096214-141096214;T/C missense_variant False PCDHB2@p.V475I 1 0.193 ENSG00000112852 chr5:141096213-141096213;G/A missense_variant False PCDHB5@p.A507T 1 0.00821 ENSG00000113209 chr5:141136953-141136953;G/A missense_variant False PCDHB5@p.E345Rfs*27 1 0.096 ENSG00000113209 chr5:141136466-141136466;T/TA frameshift_variant False PCDHGA11@p.D445Afs*2 1 0.129 ENSG00000253873 chr5:141422560-141422560;G/GC frameshift_variant False PAXIP1@p.I347F 1 0.5 ENSG00000157212 chr7:154975731-154975731;T/A missense_variant False PARP4@p.T1312A 1 0.462 ENSG00000102699 chr13:24435207-24435207;T/C missense_variant False P2RX6@p.A258V 1 0.367 ENSG00000099957 chr22:21023409-21023409;C/T missense_variant False PARP4@p.A1381Vfs*56 1 0.083 ENSG00000102699 chr13:24435001-24435001;C/CCCCTTCCTTCACTACA frameshift_variant False P2RX6@p.S235N 1 0.189 ENSG00000099957 chr22:21023340-21023340;G/A missense_variant False P2RY12@p.Q52E 1 0.177 ENSG00000169313 chr3:151338692-151338692;G/C missense_variant False P3H1@p.L452Pfs*4 1 0.32 ENSG00000117385 chr1:42752655-42752655;A/AG frameshift_variant False PABPC1L@p.F400L 1 0.087 ENSG00000101104 chr20:44930687-44930687;T/A missense_variant False PABPC3@p.G171Qfs*50 1 0.745 ENSG00000151846 chr13:25096707-25096707;T/TGCAGC frameshift_variant False PABPC5@p.L269H 1 0.426 ENSG00000174740 chrX:91436383-91436383;T/A missense_variant False PACS2@p.S702Cfs*150 1 0.375 ENSG00000179364 chr14:105391232-105391232;C/CCTGCGGTGTCACTGGGATTCACGGT frameshift_variant False PACSIN1@p.L213V 1 0.125 ENSG00000124507 chr6:34529690-34529690;C/G missense_variant False PADI3@p.S266C 1 0.172 ENSG00000142619 chr1:17270377-17270377;C/G missense_variant False PADI4@p.G85D 1 0.063 ENSG00000159339 chr1:17331130-17331130;G/A missense_variant False PAF1@p.D462E 1 0.089 ENSG00000006712 chr19:39386201-39386201;G/T missense_variant False PAFAH2@p.G376Vfs*33 1 0.038 ENSG00000158006 chr1:25962041-25962041;C/CAACCCATGGGTTATACATCCTCTCA frameshift_variant False PALB2@p.N455K 1 0.375 ENSG00000083093 chr16:23635181-23635181;A/T missense_variant False PALLD@p.M124L 1 0.133 ENSG00000129116 chr4:168511874-168511874;A/T missense_variant False PALM2AKAP2@p.D613Gfs*92 1 0.267 ENSG00000157654 chr9:110137381-110137381;G/GGAGCGCAAAGAGAGAAGGGC frameshift_variant False PAM@p.W889Sfs*12 1 0.667 ENSG00000145730 chr5:103025309-103025309;G/GTCTT frameshift_variant False PAMR1@p.A439P 1 0.3 ENSG00000149090 chr11:35435921-35435921;C/G missense_variant False PAN2@p.Q966H 1 0.041 ENSG00000135473 chr12:56319912-56319912;C/A missense_variant False PAPOLG@p.L582H 1 1.0 ENSG00000115421 chr2:60793692-60793692;T/A missense_variant False PAPPA2@p.D640E 1 0.161 ENSG00000116183 chr1:176595524-176595524;C/A missense_variant False PAPPA2@p.N574Pfs*11 1 0.125 ENSG00000116183 chr1:176595318-176595318;GTCCACAAT/G frameshift_variant False PAQR9@p.R280G 1 0.5 ENSG00000188582 chr3:142962499-142962499;G/C missense_variant False PARD6B@p.T165S 1 0.034 ENSG00000124171 chr20:50749862-50749862;A/T missense_variant False PARP10@p.R456G 1 0.017 ENSG00000178685 chr8:143984636-143984636;G/C missense_variant False PARP1@p.V408G 1 0.075 ENSG00000143799 chr1:226381145-226381145;A/C missense_variant False OR4C11@p.R288_V292del 1 0.177 ENSG00000172188 chr11:55603496-55603496;TTCACTTCTGCATTCC/T inframe_deletion False OR4A5@p.Q93H 1 0.07 ENSG00000221840 chr11:54707163-54707163;A/C missense_variant False OR2T34@p.F66L 1 0.259 ENSG00000183310 chr1:248574560-248574560;G/C missense_variant False NR3C2@p.C50Sfs*48 1 0.247 ENSG00000151623 chr4:148436712-148436712;C/CGCTGTGCGACCTGGAGCCTCGATTTTCAACATTAGGGG frameshift_variant False NRAP@p.L1236F 1 0.091 ENSG00000197893 chr10:113606279-113606279;G/A missense_variant False NRAP@p.S1377N 1 0.19 ENSG00000197893 chr10:113604706-113604706;C/T missense_variant False NRDE2@p.I434L 1 0.114 ENSG00000119720 chr14:90302831-90302831;T/G missense_variant False NRDE2@p.P397Lfs*20 1 0.091 ENSG00000119720 chr14:90302941-90302941;G/GAAATCAA frameshift_variant False NRM@p.I38_G43dup 1 0.125 ENSG00000137404 chr6:30690849-30690849;A/ACCAGACTCCGGGATCCCT inframe_insertion False NRXN1@p.L618Afs*5 1 0.049 ENSG00000179915 chr2:50538544-50538544;G/GC frameshift_variant False NRXN3@p.P186T 1 0.25 ENSG00000021645 chr14:78243649-78243649;C/A missense_variant False NRXN3@p.Q135H 1 0.264 ENSG00000021645 chr14:78243498-78243498;G/T missense_variant False NSD3@p.K632Qfs*17 1 0.167 ENSG00000147548 chr8:38316005-38316005;C/CCACAGATATCATAGGTCTGCTGT frameshift_variant False NSUN5@p.K34Ifs*51 1 0.068 ENSG00000130305 chr7:73308546-73308546;T/TTTGGGAGACCAAGGCGGGCAGA frameshift_variant False NTN1@p.E200A 1 0.58 ENSG00000065320 chr17:9022972-9022972;A/C missense_variant False NTN3@p.P201L 1 0.5 ENSG00000162068 chr16:2472303-2472303;C/T missense_variant False NTNG1@p.S211Ifs*12 1 0.132 ENSG00000162631 chr1:107324665-107324665;C/CATCCCTCCACATT frameshift_variant False NTNG1@p.Y210Sfs*19 1 0.128 ENSG00000162631 chr1:107324663-107324663;T/TCCCCTGAGCTGATGTTTGATTTTGAAGGAAG frameshift_variant False NTRK2@p.F569Ifs*15 1 0.105 ENSG00000148053 chr9:84934231-84934231;T/TAATTTCTCATTTCTCCCCTTTTTTACTCTATAAA frameshift_variant False NTRK2@p.R428W 1 0.052 ENSG00000148053 chr9:84745059-84745059;C/T missense_variant False NTS@p.L58V 1 0.538 ENSG00000133636 chr12:85878381-85878381;C/G missense_variant False NUCB1@p.E344Rfs*8 1 0.212 ENSG00000104805 chr19:48921178-48921178;A/AC frameshift_variant False NUDT17@p.V80D 1 0.104 ENSG00000186364 chr1:145846059-145846059;T/A missense_variant False NUDT21@p.E51A 1 0.151 ENSG00000167005 chr16:56447954-56447954;T/G missense_variant False NUFIP1@p.E428_K429insGQCVSGNL 1 0.2 ENSG00000083635 chr13:44943528-44943528;T/TAAGGTTACCAGAGACACATTGACC inframe_insertion False NUMBL@p.Q335K 1 0.14 ENSG00000105245 chr19:40673377-40673377;G/T missense_variant False NUP133@p.N510Kfs*4 1 0.333 ENSG00000069248 chr1:229484115-229484115;CA/C frameshift_variant False NUP188@p.L365P 1 0.25 ENSG00000095319 chr9:128970939-128970939;T/C missense_variant False NUP188@p.R1475C 1 0.071 ENSG00000095319 chr9:129003443-129003443;C/T missense_variant False NR4A2@p.S504C 1 0.048 ENSG00000153234 chr2:156326179-156326179;G/C missense_variant False NR2F6@p.L310F 1 0.457 ENSG00000160113 chr19:17235511-17235511;G/A missense_variant False OR2T34@p.C174Afs*7 1 0.161 ENSG00000183310 chr1:248574237-248574237;CA/C frameshift_variant False NR1I3@p.A65Qfs*9 1 0.176 ENSG00000143257 chr1:161235893-161235893;T/TGA frameshift_variant False NOA1@p.R109Q 1 0.063 ENSG00000084092 chr4:56977260-56977260;C/T missense_variant False NOCT@p.G277S 1 0.038 ENSG00000151014 chr4:139045007-139045007;G/A missense_variant False NOL8@p.S268P 1 0.03 ENSG00000198000 chr9:92315823-92315823;A/G missense_variant False NOL8@p.T702Mfs*60 1 0.038 ENSG00000198000 chr9:92314520-92314520;G/GCTTTTTGCCTCGCTTCCAAGGCTGCCAAACGCTTCTCA frameshift_variant False NOP14@p.C595G 1 0.615 ENSG00000087269 chr4:2944181-2944181;A/C missense_variant False NOS1@p.E387K 1 0.75 ENSG00000089250 chr12:117286235-117286235;C/T missense_variant False NOSIP@p.E101D 1 0.375 ENSG00000142546 chr19:49557205-49557205;C/G missense_variant False NOTCH3@p.G413D 1 0.405 ENSG00000074181 chr19:15189129-15189129;C/T missense_variant False NOTCH4@p.G1892Rfs*24 1 0.173 ENSG00000204301 chr6:32195776-32195776;G/GC frameshift_variant False NOX3@p.V209L 1 0.124 ENSG00000074771 chr6:155439999-155439999;C/G missense_variant False NOX4@p.F417I 1 0.211 ENSG00000086991 chr11:89342162-89342162;A/T missense_variant False NPAS4@p.S506F 1 0.706 ENSG00000174576 chr11:66424407-66424407;C/T missense_variant False NPC1@p.A507V 1 0.079 ENSG00000141458 chr18:23554791-23554791;G/A missense_variant False NPC1L1@p.P765L 1 0.07 ENSG00000015520 chr7:44533546-44533546;G/A missense_variant False NPFFR2@p.I414L 1 0.109 ENSG00000056291 chr4:72147483-72147483;A/C missense_variant False NPHP3@p.A985Qfs*8 1 0.106 ENSG00000113971 chr3:132688822-132688822;C/CTG frameshift_variant False NPHP4@p.W394R 1 0.52 ENSG00000131697 chr1:5933269-5933269;A/G missense_variant False NPHS1@p.V868Yfs*45 1 0.5 ENSG00000161270 chr19:35842185-35842185;C/CCAACACAGAGACATGCAGACGTA frameshift_variant False NPL@p.L316M 1 0.857 ENSG00000135838 chr1:182828891-182828891;T/A missense_variant False NPR1@p.N607Qfs*21 1 0.052 ENSG00000169418 chr1:153686698-153686698;A/AC frameshift_variant False NPRL3@p.R158H 1 0.75 ENSG00000103148 chr16:112696-112696;C/T missense_variant False NPVF@p.K7E 1 0.438 ENSG00000105954 chr7:25228421-25228421;T/C missense_variant False NR0B1@p.E137K 1 0.143 ENSG00000169297 chrX:30308955-30308955;C/T missense_variant False NR1D1@p.S114Yfs*19 1 0.049 ENSG00000126368 chr17:40097096-40097096;C/CCCGAGGGACCAATGGGATAG frameshift_variant False NR1H3@p.T77A 1 0.083 ENSG00000025434 chr11:47259976-47259976;A/G missense_variant False NUP188@p.T578P 1 0.045 ENSG00000095319 chr9:128982964-128982964;A/C missense_variant False NUP210@p.N1587K 1 0.564 ENSG00000132182 chr3:13323316-13323316;G/T missense_variant False NUP214@p.T1403A 1 0.786 ENSG00000126883 chr9:131197701-131197701;A/G missense_variant False NUTM2D@p.F11L 1 0.038 ENSG00000214562 chr10:87358296-87358296;T/C missense_variant False OR10G9@p.F256L 1 0.385 ENSG00000236981 chr11:124023780-124023780;C/A missense_variant False OR10H3@p.G109D 1 0.162 ENSG00000171936 chr19:15741718-15741718;G/A missense_variant False OR10K2@p.Q173K 1 0.818 ENSG00000180708 chr1:158420350-158420350;G/T missense_variant False OR11A1@p.V289A 1 0.043 ENSG00000204694 chr6:29426776-29426776;A/G missense_variant False OR11H2@p.S168Y 1 0.072 ENSG00000258453 chr14:19713381-19713381;G/T missense_variant False OR12D1@p.S250P 1 0.049 ENSG00000251608 chr6:29418027-29418027;T/C missense_variant False OR12D2@p.L120F 1 0.135 ENSG00000280236 chr6:29397057-29397057;C/T missense_variant False OR12D2@p.R163H 1 0.246 ENSG00000280236 chr6:29397187-29397187;G/A missense_variant False OR13C2@p.S93_L94insMG 1 0.042 ENSG00000276119 chr9:104605349-104605349;G/GCCCATA inframe_insertion False OR13C3@p.T288A 1 0.063 ENSG00000204246 chr9:104535862-104535862;T/C missense_variant False OR1L1@p.F149del 1 0.465 ENSG00000173679 chr9:122662158-122662158;CCTT/C inframe_deletion False OR1M1@p.L36M 1 0.418 ENSG00000170929 chr19:9093350-9093350;C/A missense_variant False OR1M1@p.S188L 1 0.141 ENSG00000170929 chr19:9093807-9093807;C/T missense_variant False OR1Q1@p.L154P 1 0.489 ENSG00000165202 chr9:122615198-122615198;T/C missense_variant False OR1Q1@p.V30A 1 0.08 ENSG00000165202 chr9:122614826-122614826;T/C missense_variant False OR1S2@p.M285I 1 0.085 ENSG00000197887 chr11:58203288-58203288;C/T missense_variant False OR2B3@p.H131Wfs*44 1 0.208 ENSG00000204703 chr6:29086859-29086859;G/GGAGTTCAACATGGATGTGATGATTCCAT frameshift_variant False OR2B3@p.N42I 1 0.211 ENSG00000204703 chr6:29087124-29087124;T/A missense_variant False OR2B6@p.L14P 1 0.082 ENSG00000124657 chr6:27957281-27957281;T/C missense_variant False OR2G3@p.D264E 1 0.185 ENSG00000177476 chr1:247606377-247606377;C/A missense_variant False OR2H1@p.T36N 1 0.056 ENSG00000204688 chr6:29461876-29461876;C/A missense_variant False OR2L13@p.Y289C 1 0.061 ENSG00000196071 chr1:248100241-248100241;A/G missense_variant False OR2L8@p.I279T 1 0.018 ENSG00000279263 chr1:247949693-247949693;T/C missense_variant False OR2T10@p.Q106H 1 0.983 ENSG00000184022 chr1:248593451-248593451;C/A missense_variant False OR2T11@p.T74S 1 0.362 ENSG00000279301 chr1:248626909-248626909;T/A missense_variant False OR10G8@p.L44M 1 0.225 ENSG00000234560 chr11:124029752-124029752;C/A missense_variant False OR10G2@p.I94N 1 0.03 ENSG00000255582 chr14:21634562-21634562;A/T missense_variant False OR10A5@p.L70Hfs*45 1 0.072 ENSG00000166363 chr11:6845890-6845890;C/CACAGAAT frameshift_variant False OAF@p.S155Qfs*12 1 0.414 ENSG00000184232 chr11:120226901-120226901;G/GGGCCCTGCTCCAGGCAGGGCACACAGACTCTGCTA frameshift_variant False NUTM2F@p.L241F 1 0.188 ENSG00000130950 chr9:94322322-94322322;G/A missense_variant False NVL@p.L190M 1 0.438 ENSG00000143748 chr1:224308038-224308038;G/T missense_variant False NWD1@p.G341W 1 0.061 ENSG00000188039 chr19:16749663-16749663;G/T missense_variant False NWD1@p.I69T 1 0.375 ENSG00000188039 chr19:16744428-16744428;T/C missense_variant False NWD2@p.D1489Efs*10 1 0.074 ENSG00000174145 chr4:37446454-37446454;A/AGGACATTTCCAGCCCCCAG frameshift_variant False NWD2@p.E1329Cfs*40 1 0.134 ENSG00000174145 chr4:37445971-37445971;G/GATGTCACTGTCATCGATCTGCTGTAC frameshift_variant False NXPE1@p.H401Q 1 0.3 ENSG00000095110 chr11:114522409-114522409;A/T missense_variant False NXPE1@p.S402N 1 0.316 ENSG00000095110 chr11:114522407-114522407;C/T missense_variant False NXPH2@p.T131S 1 0.219 ENSG00000144227 chr2:138671326-138671326;T/A missense_variant False NYAP1@p.H742Y 1 0.444 ENSG00000166924 chr7:100491051-100491051;C/T missense_variant False NYNRIN@p.L192V 1 0.542 ENSG00000205978 chr14:24408244-24408244;C/G missense_variant False OAS2@p.E519Q 1 0.037 ENSG00000111335 chr12:113006499-113006499;G/C missense_variant False OPTN@p.E399A 1 0.143 ENSG00000123240 chr10:13125993-13125993;A/C missense_variant False OAZ3@p.P51R 1 0.078 ENSG00000143450 chr1:151766873-151766873;C/G missense_variant False OBSL1@p.K1853Nfs*5 1 0.125 ENSG00000124006 chr2:219551653-219551653;C/CCTCGGCA frameshift_variant False OBSL1@p.K1853Rfs*48 1 0.125 ENSG00000124006 chr2:219551655-219551655;T/TCCTGCTGAACCGCTCTTCCG frameshift_variant False OBSL1@p.T748Pfs*29 1 0.078 ENSG00000124006 chr2:219565407-219565407;T/TAAGGCTGAGGCGGGCAGATCATTTGAGGTCAGGGG frameshift_variant False OCA2@p.A481V 1 0.524 ENSG00000104044 chr15:27983406-27983406;G/A missense_variant False OCA2@p.P99L 1 0.121 ENSG00000104044 chr15:28032095-28032095;G/A missense_variant False ODF3L1@p.P178L 1 0.121 ENSG00000182950 chr15:75727248-75727248;C/T missense_variant False OGT@p.S510N 1 0.393 ENSG00000147162 chrX:71557599-71557599;G/A missense_variant False OOSP2@p.I70L 1 0.375 ENSG00000149507 chr11:60043612-60043612;A/T missense_variant False OPN1LW@p.C278W 1 0.62 ENSG00000102076 chrX:154156383-154156383;C/G missense_variant False OPN4@p.P230L 1 0.286 ENSG00000122375 chr10:86659357-86659357;C/T missense_variant False PCDHAC1@p.V732Dfs*13 1 0.055 ENSG00000248383 chr5:140929086-140929086;G/GATGTTATCTCTGAAGGGCCA frameshift_variant False SAPCD1@p.A101Efs*20 1 0.075 ENSG00000228727 chr6:31764109-31764109;G/GAGTACTGGATTTT frameshift_variant False SACS@p.H1768Y 1 0.4 ENSG00000151835 chr13:23338574-23338574;G/A missense_variant False UBR1@p.D703G 1 0.429 ENSG00000159459 chr15:43036260-43036260;T/C missense_variant False UBR3@p.D1248V 1 0.121 ENSG00000144357 chr2:169986753-169986753;A/T missense_variant False UBR4@p.R1750K 1 0.375 ENSG00000127481 chr1:19161074-19161074;C/T missense_variant False UBR5@p.A758S 1 0.188 ENSG00000104517 chr8:102311881-102311881;C/A missense_variant False UBXN1@p.R115Gfs*27 1 0.111 ENSG00000162191 chr11:62678065-62678065;CGT/C frameshift_variant False UGT1A5@p.K212N 1 0.374 ENSG00000288705 chr2:233713627-233713627;G/T missense_variant False UGT2B10@p.G471A 1 0.046 ENSG00000109181 chr4:68830704-68830704;G/C missense_variant False UGT2B11@p.M214K 1 0.093 ENSG00000213759 chr4:69214082-69214082;A/T missense_variant False UGT2B28@p.L9F 1 0.426 ENSG00000135226 chr4:69280525-69280525;C/T missense_variant False UHRF1BP1L@p.D171V 1 0.577 None chr12:100098368-100098368;T/A missense_variant False ULK2@p.S801R 1 0.045 ENSG00000083290 chr17:19783754-19783754;G/T missense_variant False UMOD@p.C346Lfs*8 1 0.505 ENSG00000169344 chr16:20348306-20348306;C/CAGTTA frameshift_variant False UNC119@p.V110Efs*111 1 0.385 ENSG00000109103 chr17:28548597-28548597;A/ATAGCCCAGCGACTCACGTGGCT frameshift_variant False UNC13A@p.E278K 1 0.183 ENSG00000130477 chr19:17656334-17656334;C/T missense_variant False UNC13A@p.L145_E146delinsQ 1 0.175 ENSG00000130477 chr19:17668148-17668148;TCCA/T inframe_deletion False UNC13B@p.M3304Kfs*7 1 0.057 ENSG00000198722 chr9:35377542-35377542;ATG/A frameshift_variant False UNC13B@p.N4234S 1 0.286 ENSG00000198722 chr9:35403563-35403563;A/G missense_variant False UNC13B@p.T3191_S3192insIILNYL 1 0.025 ENSG00000198722 chr9:35375159-35375159;T/TATTATTCTTAATTACCTG inframe_insertion False UNC13B@p.V3807G 1 0.105 ENSG00000198722 chr9:35396587-35396587;T/G missense_variant False UNC13C@p.K1176Nfs*3 1 0.167 ENSG00000137766 chr15:54264246-54264246;A/ATGAGT frameshift_variant False UNC13C@p.R182Q 1 0.417 ENSG00000137766 chr15:54013448-54013448;G/A missense_variant False UNC45A@p.E122K 1 0.333 ENSG00000140553 chr15:90936398-90936398;G/A missense_variant False UNC45B@p.Y382Wfs*8 1 0.031 ENSG00000141161 chr17:35164159-35164159;T/TGGTC frameshift_variant False UNC5C@p.V891L 1 0.588 ENSG00000182168 chr4:95169359-95169359;C/A missense_variant False UNC80@p.F2739Tfs*60 1 0.667 ENSG00000144406 chr2:209970903-209970903;A/ACCACCTCTGC frameshift_variant False UPF1@p.Q529Pfs*32 1 0.125 ENSG00000005007 chr19:18855965-18855965;C/CCCTTCGGCATCGTGTCATTACTGCCTGTTAA frameshift_variant False UBR1@p.W1498Rfs*16 1 0.028 ENSG00000159459 chr15:42966252-42966252;A/ACCATGTTGGCCTTGCTGGTCTCGAACTCCTGACCT frameshift_variant False UBQLN4@p.N399I 1 0.041 ENSG00000160803 chr1:156042844-156042844;T/A missense_variant False UQCRFS1@p.P224L 1 0.1 ENSG00000169021 chr19:29207702-29207702;G/A missense_variant False UBL7@p.G198V 1 0.375 ENSG00000138629 chr15:74450007-74450007;C/A missense_variant False TTN@p.P18480T 1 0.237 ENSG00000155657 chr2:178601559-178601559;G/T missense_variant False TTN@p.R23352S 1 0.188 ENSG00000155657 chr2:178576076-178576076;T/G missense_variant False TTN@p.S25856C 1 0.316 ENSG00000155657 chr2:178568566-178568566;T/A missense_variant False TTN@p.S6978Yfs*18 1 0.099 ENSG00000155657 chr2:178724442-178724442;G/GGTCTTGCAAAAGAAGGTGGGAGTTGGCGCTCTGTAGGGAGACATGT frameshift_variant False TTN@p.T9249M 1 0.102 ENSG00000155657 chr2:178712084-178712084;G/A missense_variant False TTN@p.Y33792C 1 0.706 ENSG00000155657 chr2:178535240-178535240;T/C missense_variant False TUB@p.A169_A170insY 1 0.1 ENSG00000166402 chr11:8095607-8095607;A/ATAC inframe_insertion False TUBA1C@p.F87Tfs*94 1 0.09 ENSG00000167553 chr12:49269858-49269858;TCTTC/T frameshift_variant False TUBA1C@p.S439T 1 0.079 ENSG00000167553 chr12:49273193-49273193;G/C missense_variant False TUBA1C@p.V324Dfs*60 1 0.625 ENSG00000167553 chr12:49272847-49272847;G/GATTACTATTCTCAC frameshift_variant False TUBA8@p.G17A 1 0.023 ENSG00000183785 chr22:18121525-18121525;G/C missense_variant False TVP23B@p.R91L 1 0.031 ENSG00000171928 chr17:18797610-18797610;G/T missense_variant False TXNIP@p.S307Cfs*12 1 0.115 ENSG00000265972 chr1:145994349-145994349;G/GTGGTGGC frameshift_variant False TXNIP@p.S307_S308dup 1 0.115 ENSG00000265972 chr1:145994350-145994350;A/ATGAACT inframe_insertion False TYRP1@p.Q178H 1 0.122 ENSG00000107165 chr9:12695663-12695663;A/T missense_variant False TYW1@p.H187N 1 0.711 ENSG00000198874 chr7:67014550-67014550;C/A missense_variant False TYW1@p.V582M 1 0.269 ENSG00000198874 chr7:67183171-67183171;G/A missense_variant False UBAP2@p.A819T 1 0.125 ENSG00000137073 chr9:33926997-33926997;C/T missense_variant False UBE3A@p.I365V 1 0.37 ENSG00000114062 chr15:25371081-25371081;T/C missense_variant False UBE3A@p.N581S 1 0.152 ENSG00000114062 chr15:25360394-25360394;T/C missense_variant False UBE3A@p.Y376N 1 0.857 ENSG00000114062 chr15:25371048-25371048;A/T missense_variant False UBE3C@p.E173A 1 0.238 ENSG00000009335 chr7:157178749-157178749;A/C missense_variant False UBE4B@p.P1269Rfs*8 1 0.429 ENSG00000130939 chr1:10179520-10179520;C/CGA frameshift_variant False UBE4B@p.P1269_F1270insRRFHADF 1 0.429 ENSG00000130939 chr1:10179521-10179521;C/CTCGTCGTTTTCATGCTGATTT inframe_insertion False UBIAD1@p.S57I 1 0.134 ENSG00000120942 chr1:11273701-11273701;G/T missense_variant False UQCRC1@p.I133Afs*23 1 0.75 ENSG00000010256 chr3:48604682-48604682;G/GAAAATCCCCAGGCCTGGCA frameshift_variant False URB1@p.D1635Wfs*4 1 0.075 ENSG00000142207 chr21:32333372-32333372;ATC/A frameshift_variant False TTN@p.K23424Sfs*21 1 0.041 ENSG00000155657 chr2:178575861-178575861;T/TCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCAC frameshift_variant False VCAN@p.E1783K 1 0.113 ENSG00000038427 chr5:83538350-83538350;G/A missense_variant False VGLL1@p.Q160_P167dup 1 0.095 ENSG00000102243 chrX:136548851-136548851;C/CCAGCCTGATGGGAAACGTGAGCCT inframe_insertion False VHLL@p.R90H 1 0.097 ENSG00000189030 chr1:156298921-156298921;C/T missense_variant False VIRMA@p.F635S 1 0.085 ENSG00000164944 chr8:94526340-94526340;A/G missense_variant False VPS13A@p.G1885R 1 0.097 ENSG00000197969 chr9:77321569-77321569;G/C missense_variant False VPS13A@p.W1538C 1 0.437 ENSG00000197969 chr9:77315454-77315454;G/T missense_variant False VPS13D@p.A1944Dfs*24 1 0.333 ENSG00000048707 chr1:12291102-12291102;GC/G frameshift_variant False VPS26B@p.R294W 1 0.35 ENSG00000151502 chr11:134245459-134245459;C/T missense_variant False VPS37D@p.G140R 1 0.076 ENSG00000176428 chr7:73671038-73671038;G/A missense_variant False VPS37D@p.K167_L168insEFETSLTNMVKPR 1 1.0 ENSG00000176428 chr7:73671121-73671121;G/GGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGT inframe_insertion False VPS41@p.E6Gfs*25 1 0.104 ENSG00000006715 chr7:38909157-38909157;CT/C frameshift_variant False VPS53@p.Q263Lfs*33 1 0.073 ENSG00000141252 chr17:628131-628131;T/TCCCAGAGCAAA frameshift_variant False VPS53@p.T147Efs*15 1 0.048 ENSG00000141252 chr17:655888-655888;G/GCTCCTTTGTAGTAAATCACCAGCTCTTCCTTCTCT frameshift_variant False VPS8@p.T18M 1 0.182 ENSG00000156931 chr3:184824685-184824685;C/T missense_variant False VSIG10@p.L136_P137insKVRRINHLAMYNC 1 0.122 ENSG00000176834 chr12:118082383-118082383;G/GCAATTGTACATTGCTAAATGGTTAATCCTACGTACTTTC inframe_insertion False VSIG8@p.G193A 1 0.096 ENSG00000243284 chr1:159857819-159857819;C/G missense_variant False VWA8@p.P1026R 1 0.058 ENSG00000102763 chr13:41719630-41719630;G/C missense_variant False VWDE@p.L260F 1 0.323 ENSG00000146530 chr7:12380497-12380497;G/A missense_variant False VWF@p.A1683V 1 0.089 ENSG00000110799 chr12:6018370-6018370;G/A missense_variant False VWF@p.A62E 1 0.051 ENSG00000110799 chr12:6121209-6121209;G/T missense_variant False VWF@p.Q1769K 1 0.875 ENSG00000110799 chr12:6016522-6016522;G/T missense_variant False WASH6P@p.G122S 1 0.353 ENSG00000292372 chrX:156022062-156022062;G/A missense_variant False WASH6P@p.G373S 1 0.119 ENSG00000292372 chrX:156024155-156024155;G/A missense_variant False WASH6P@p.I92M 1 0.086 ENSG00000292372 chrX:156021768-156021768;C/G missense_variant False WASHC2C@p.P1334T 1 0.731 ENSG00000172661 chr10:45792374-45792374;C/A missense_variant False WASHC5@p.Y330F 1 0.129 ENSG00000164961 chr8:125073314-125073314;T/A missense_variant False VEGFC@p.C304S 1 0.5 ENSG00000150630 chr4:176687422-176687422;A/T missense_variant False VANGL1@p.Y200H 1 0.08 ENSG00000173218 chr1:115664054-115664054;T/C missense_variant False URB1@p.S230Wfs*6 1 0.143 ENSG00000142207 chr21:32375457-32375457;CTG/C frameshift_variant False UXS1@p.P363L 1 0.041 ENSG00000115652 chr2:106096776-106096776;G/A missense_variant False URGCP@p.R233W 1 0.143 ENSG00000106608 chr7:43878766-43878766;G/A missense_variant False UROC1@p.A509Qfs*33 1 0.667 ENSG00000159650 chr3:126492500-126492500;GC/G frameshift_variant False USF3@p.N2123H 1 0.643 ENSG00000176542 chr3:113655315-113655315;T/G missense_variant False USH2A@p.S2691dup 1 0.22 ENSG00000042781 chr1:215888575-215888575;G/GACT inframe_insertion False USO1@p.K642R 1 0.111 ENSG00000138768 chr4:75801139-75801139;A/G missense_variant False USP13@p.S821C 1 0.275 ENSG00000058056 chr3:179781786-179781786;A/T missense_variant False USP17L10@p.V396A 1 0.098 ENSG00000231396 chr4:9211843-9211843;T/C missense_variant False USP19@p.R1201Wfs*24 1 0.143 ENSG00000172046 chr3:49110808-49110808;G/GTGCACAGGCAGTGTAGTGGCCA frameshift_variant False USP21@p.I124Lfs*31 1 0.467 ENSG00000143258 chr1:161161009-161161009;G/GCTGTTATTCTTGCATCTACACT frameshift_variant False USP24@p.A710V 1 0.451 ENSG00000162402 chr1:55147050-55147050;G/A missense_variant False USP24@p.S1730N 1 0.082 ENSG00000162402 chr1:55100921-55100921;C/T missense_variant False USP33@p.V260I 1 0.073 ENSG00000077254 chr1:77728652-77728652;C/T missense_variant False USP34@p.T2116A 1 0.184 ENSG00000115464 chr2:61248559-61248559;T/C missense_variant False USP37@p.R257Gfs*30 1 0.176 ENSG00000135913 chr2:218534617-218534617;CT/C frameshift_variant False USP38@p.G828E 1 0.25 ENSG00000170185 chr4:143214459-143214459;G/A missense_variant False USP43@p.A952D 1 0.091 ENSG00000154914 chr17:9728473-9728473;C/A missense_variant False USP45@p.A503V 1 0.064 ENSG00000123552 chr6:99446264-99446264;G/A missense_variant False USP5@p.V151M 1 0.474 ENSG00000111667 chr12:6856317-6856317;G/A missense_variant False USP5@p.Y336Lfs*150 1 0.196 ENSG00000111667 chr12:6858564-6858564;C/CCTTCCAGAACTTGAACTGGACGA frameshift_variant False USP6NL@p.A194T 1 0.063 ENSG00000148429 chr10:11489186-11489186;C/T missense_variant False USP9Y@p.R2536Q 1 0.848 ENSG00000114374 chrY:12859355-12859355;G/A missense_variant False UTP14C@p.R751W 1 0.375 ENSG00000253797 chr13:52031055-52031055;A/T missense_variant False UTP18@p.E212V 1 0.75 ENSG00000011260 chr17:51273374-51273374;A/T missense_variant False UTP25@p.N586D 1 0.25 ENSG00000117597 chr1:209842670-209842670;A/G missense_variant False UTP6@p.L164V 1 0.593 ENSG00000108651 chr17:31889338-31889338;G/C missense_variant False TTN@p.L34416Gfs*17 1 0.133 ENSG00000155657 chr2:178533370-178533370;G/GAGACGTTCCA frameshift_variant False TTN@p.K13026N 1 0.054 ENSG00000155657 chr2:178652507-178652507;C/A missense_variant False WDFY4@p.M2648Ifs*53 1 0.098 ENSG00000128815 chr10:48946935-48946935;T/TAATAAAGAGAACCATAAAACTCAAGAGCGTGGCTCCTAGG frameshift_variant False TP53@p.V157F 1 0.897 ENSG00000141510 chr17:7675143-7675143;C/A missense_variant True TP53AIP1@p.L112V 1 0.227 ENSG00000120471 chr11:128935632-128935632;G/C missense_variant False TP53BP1@p.L212R 1 0.172 ENSG00000067369 chr15:43479882-43479882;A/C missense_variant False TPD52L3@p.V85A 1 0.583 ENSG00000170777 chr9:6328849-6328849;T/C missense_variant False TPR@p.E1577K 1 0.354 ENSG00000047410 chr1:186335520-186335520;C/T missense_variant False TPRG1L@p.Q128H 1 0.29 ENSG00000158109 chr1:3625803-3625803;G/T missense_variant False TPST1@p.Q355R 1 0.042 ENSG00000169902 chr7:66352524-66352524;A/G missense_variant False TRA2B@p.K197Q 1 0.125 ENSG00000136527 chr3:185922060-185922060;T/G missense_variant False TRAF3IP1@p.T592Hfs*28 1 0.25 ENSG00000204104 chr2:238397542-238397542;G/GCACACCA frameshift_variant False TRAF6@p.H363N 1 0.793 ENSG00000175104 chr11:36490320-36490320;G/T missense_variant False TRAF7@p.R104C 1 0.556 ENSG00000131653 chr16:2170692-2170692;C/T missense_variant True TRAM2@p.A90V 1 0.02 ENSG00000065308 chr6:52516653-52516653;G/A missense_variant False TRANK1@p.F2589I 1 0.00495 ENSG00000168016 chr3:36831818-36831818;A/T missense_variant False TRANK1@p.N2205I 1 0.667 ENSG00000168016 chr3:36832969-36832969;T/A missense_variant False TRANK1@p.V1499I 1 0.152 ENSG00000168016 chr3:36855227-36855227;C/T missense_variant False TRAPPC12@p.R481H 1 0.082 ENSG00000171853 chr2:3443803-3443803;G/A missense_variant False TRAPPC3L@p.K32N 1 0.103 ENSG00000173626 chr6:116543347-116543347;C/A missense_variant False TREX1@p.T49Hfs*53 1 0.833 ENSG00000213689 chr3:48466792-48466792;G/GC frameshift_variant False TRHDE@p.R1005C 1 0.073 ENSG00000072657 chr12:72663133-72663133;C/T missense_variant False TRIM16@p.V233L 1 0.289 ENSG00000221926 chr17:15636188-15636188;C/A missense_variant False TRIM23@p.A567V 1 0.387 ENSG00000113595 chr5:65591794-65591794;G/A missense_variant False TRIM43B@p.V173Tfs*9 1 0.028 ENSG00000144015 chr2:95480527-95480527;C/CGATTGGTT frameshift_variant False TRIM45@p.P58Kfs*15 1 0.088 ENSG00000134253 chr1:117121031-117121031;C/CCTGCTTT frameshift_variant False TRIM46@p.E431D 1 0.011 ENSG00000163462 chr1:155179639-155179639;G/T missense_variant False TRIM46@p.G119S 1 0.109 ENSG00000163462 chr1:155175917-155175917;G/A missense_variant False TRIM47@p.S494R 1 0.495 ENSG00000132481 chr17:75874918-75874918;G/C missense_variant False TP53@p.V216M 1 0.788 ENSG00000141510 chr17:7674885-7674885;C/T missense_variant True TP53@p.V122Sfs*3 1 0.704 ENSG00000141510 chr17:7676006-7676006;A/AGACTT frameshift_variant True TRIM51GP@p.L377R 1 0.056 None chr11:48975727-48975727;A/C missense_variant False TP53@p.P278S 1 0.82 ENSG00000141510 chr17:7673788-7673788;G/A missense_variant True TMPRSS4@p.D161E 1 0.167 ENSG00000137648 chr11:118107816-118107816;T/A missense_variant False TNFAIP8L2@p.T100M 1 0.274 ENSG00000163154 chr1:151158996-151158996;C/T missense_variant False TNFRSF1B@p.G442E 1 0.165 ENSG00000028137 chr1:12206959-12206959;G/A missense_variant False TNFRSF21@p.S219T 1 0.281 ENSG00000146072 chr6:47286036-47286036;C/G missense_variant False TNFRSF8@p.R109G 1 0.158 ENSG00000120949 chr1:12104435-12104435;C/G missense_variant False TNFRSF8@p.T557P 1 0.138 ENSG00000120949 chr1:12142412-12142412;A/C missense_variant False TNKS1BP1@p.Q1249E 1 0.076 ENSG00000149115 chr11:57308966-57308966;G/C missense_variant False TNNI2@p.R116H 1 0.083 ENSG00000130598 chr11:1841101-1841101;G/A missense_variant False TNNT1@p.R107W 1 0.464 ENSG00000105048 chr19:55140951-55140951;G/A missense_variant False TNNT1@p.R39C 1 0.112 ENSG00000105048 chr19:55145557-55145557;G/A missense_variant False TNPO1@p.L121F 1 0.222 ENSG00000083312 chr5:72861815-72861815;G/C missense_variant False TNS3@p.P232S 1 0.111 ENSG00000136205 chr7:47411756-47411756;G/A missense_variant False TNXB@p.A1733V 1 0.085 ENSG00000168477 chr6:32070207-32070207;G/A missense_variant False TNXB@p.E2718K 1 0.061 ENSG00000168477 chr6:32056166-32056166;C/T missense_variant False TOGARAM1@p.R879Efs*20 1 0.571 ENSG00000198718 chr14:45004355-45004355;GT/G frameshift_variant False TOM1L1@p.A2S 1 0.753 ENSG00000141198 chr17:54900869-54900869;G/T missense_variant False TONSL@p.L542V 1 0.213 ENSG00000160949 chr8:144438500-144438500;G/C missense_variant False TOP1@p.C300Mfs*2 1 0.495 ENSG00000198900 chr20:41098256-41098256;C/CA frameshift_variant False TOP3A@p.M28_A29insPDRSPANL 1 0.108 ENSG00000177302 chr17:18314694-18314694;C/CTAGGTTGGCTGGGGAACGATCGGG inframe_insertion False TOPORS@p.D785E 1 0.538 ENSG00000197579 chr9:32542170-32542170;G/T missense_variant False TOX2@p.N76D 1 0.429 ENSG00000124191 chr20:44006607-44006607;A/G missense_variant False TP53@p.C275Y 1 0.714 ENSG00000141510 chr17:7673796-7673796;C/T missense_variant True TP53@p.D281N 1 0.672 ENSG00000141510 chr17:7673779-7673779;C/T missense_variant True TP53@p.G105V 1 0.835 ENSG00000141510 chr17:7676055-7676055;C/A missense_variant True TP53@p.P152Rfs*18 1 0.769 ENSG00000141510 chr17:7675156-7675156;CG/C frameshift_variant True TRIM49B@p.S421C 1 0.366 ENSG00000182053 chr11:49037879-49037879;A/T missense_variant False TRIM55@p.S292Lfs*14 1 0.039 ENSG00000147573 chr8:66150354-66150354;A/AC frameshift_variant False TTN@p.G32081A 1 0.184 ENSG00000155657 chr2:178543902-178543902;C/G missense_variant False TSHZ2@p.D508Y 1 0.282 ENSG00000182463 chr20:53254980-53254980;G/T missense_variant False TSHZ3@p.R932W 1 0.04 ENSG00000121297 chr19:31276999-31276999;G/A missense_variant False TSPAN12@p.E4G 1 0.338 ENSG00000106025 chr7:120856753-120856753;T/C missense_variant False TSPAN15@p.S77C 1 0.211 ENSG00000099282 chr10:69483824-69483824;C/G missense_variant False TSPAN8@p.A101V 1 0.125 ENSG00000127324 chr12:71138190-71138190;G/A missense_variant False TSPAN8@p.P180T 1 0.129 ENSG00000127324 chr12:71132731-71132731;G/T missense_variant False TSPOAP1@p.E177G 1 0.115 ENSG00000005379 chr17:58326333-58326333;T/C missense_variant False TSPYL2@p.F613* 1 0.296 ENSG00000184205 chrX:53086228-53086228;CTT/C frameshift_variant False TSPYL5@p.R300H 1 0.044 ENSG00000180543 chr8:97276946-97276946;C/T missense_variant False TTC13@p.N674S 1 0.278 ENSG00000143643 chr1:230916265-230916265;T/C missense_variant False TTC14@p.R125H 1 0.135 ENSG00000163728 chr3:180603211-180603211;G/A missense_variant False TTC25@p.G556E 1 0.144 None chr17:41965131-41965131;G/A missense_variant False TTC30A@p.T387A 1 0.406 ENSG00000197557 chr2:177617543-177617543;T/C missense_variant False TTC9B@p.C160G 1 0.273 ENSG00000174521 chr19:40217319-40217319;A/C missense_variant False TTL@p.S18C 1 0.477 ENSG00000114999 chr2:112482397-112482397;C/G missense_variant False TTLL11@p.T421I 1 0.156 ENSG00000175764 chr9:121989472-121989472;G/A missense_variant False TTLL6@p.E449Dfs*21 1 0.19 ENSG00000170703 chr17:48789984-48789984;C/CA frameshift_variant False TTLL7@p.R130Q 1 0.5 ENSG00000137941 chr1:83947241-83947241;C/T missense_variant False TTN@p.A18088V 1 0.05 ENSG00000155657 chr2:178604826-178604826;G/A missense_variant False TTN@p.A31115P 1 0.207 ENSG00000155657 chr2:178548283-178548283;C/G missense_variant False TTN@p.A8627S 1 0.179 ENSG00000155657 chr2:178715535-178715535;C/A missense_variant False TTN@p.C1015F 1 0.344 ENSG00000155657 chr2:178782862-178782862;C/A missense_variant False TTN@p.D22245Vfs*12 1 0.113 ENSG00000155657 chr2:178581533-178581533;AT/A frameshift_variant False TTN@p.D28070N 1 0.196 ENSG00000155657 chr2:178561924-178561924;C/T missense_variant False TTN@p.D29111N 1 0.035 ENSG00000155657 chr2:178558023-178558023;C/T missense_variant False TTN@p.E33600K 1 0.769 ENSG00000155657 chr2:178535817-178535817;C/T missense_variant False TSHZ3@p.R675Afs*12 1 0.947 ENSG00000121297 chr19:31277771-31277771;C/CG frameshift_variant False TSGA10IP@p.G131V 1 0.07 ENSG00000175513 chr11:65947217-65947217;G/T missense_variant False TRIM64B@p.E96A 1 0.105 ENSG00000189253 chr11:89875731-89875731;T/G missense_variant False TSBP1@p.A319G 1 0.359 ENSG00000204296 chr6:32293711-32293711;G/C missense_variant False TRIM64C@p.P403L 1 0.077 ENSG00000214891 chr11:49053859-49053859;G/A missense_variant False TRIML1@p.F324L 1 0.087 ENSG00000184108 chr4:188146937-188146937;T/A missense_variant False TRIP10@p.E39Sfs*2 1 0.615 ENSG00000125733 chr19:6741099-6741099;G/GTCTT frameshift_variant False TRIP11@p.Y834D 1 0.139 ENSG00000100815 chr14:92005476-92005476;A/C missense_variant False TRIP13@p.V164I 1 0.071 ENSG00000071539 chr5:901386-901386;G/A missense_variant False TRIR@p.K135Q 1 0.25 ENSG00000123144 chr19:12731364-12731364;T/G missense_variant False TRMT13@p.A207V 1 0.052 ENSG00000122435 chr1:100140970-100140970;C/T missense_variant False TRMT2B@p.C465R 1 0.727 ENSG00000188917 chrX:101010703-101010703;A/G missense_variant False TRMT2B@p.K473E 1 0.538 ENSG00000188917 chrX:101010679-101010679;T/C missense_variant False TRMT5@p.S332T 1 0.049 ENSG00000126814 chr14:60975925-60975925;A/T missense_variant False TRO@p.A129P 1 0.065 ENSG00000067445 chrX:54922917-54922917;G/C missense_variant False TRPC3@p.D649G 1 0.147 ENSG00000138741 chr4:121907414-121907414;T/C missense_variant False TRPM1@p.F630_Q631insTNHFVCHVSIFLSVS 1 0.4 ENSG00000134160 chr15:31042147-31042147;G/GAGAGACAGAAAGAAAAATGCTGACATGACAGACGAAGTGATTTGT inframe_insertion False TRPM1@p.K247N 1 0.152 ENSG00000134160 chr15:31066125-31066125;C/G missense_variant False TRPM3@p.V1418L 1 0.274 ENSG00000083067 chr9:70536774-70536774;C/A missense_variant False TRPM4@p.R664H 1 0.096 ENSG00000130529 chr19:49189063-49189063;G/A missense_variant False TRPM6@p.D117E 1 0.103 ENSG00000119121 chr9:74840217-74840217;A/T missense_variant False TRPS1@p.S157L 1 0.261 ENSG00000104447 chr8:115619628-115619628;G/A missense_variant False TRPV2@p.D699Mfs*11 1 0.424 ENSG00000187688 chr17:16433674-16433674;GC/G frameshift_variant False TRPV3@p.Q106H 1 0.265 ENSG00000167723 chr17:3543622-3543622;C/G missense_variant False TRPV5@p.A94V 1 0.222 ENSG00000127412 chr7:142930126-142930126;G/A missense_variant False TRPV6@p.G528D 1 0.714 ENSG00000165125 chr7:142874132-142874132;C/T missense_variant False TRRAP@p.K404M 1 0.222 ENSG00000196367 chr7:98908823-98908823;A/T missense_variant False TRRAP@p.N3748S 1 0.045 ENSG00000196367 chr7:99011441-99011441;A/G missense_variant False TRRAP@p.R1170Q 1 0.047 ENSG00000196367 chr7:98930748-98930748;G/A missense_variant False WBP2NL@p.P179H 1 0.059 ENSG00000183066 chr22:42026787-42026787;C/A missense_variant False WDHD1@p.K610E 1 0.165 ENSG00000198554 chr14:54984801-54984801;T/C missense_variant False TMEM71@p.G71D 1 0.715 ENSG00000165071 chr8:132751887-132751887;C/T missense_variant False ZNF483@p.S293N 1 0.261 ENSG00000173258 chr9:111541813-111541813;G/A missense_variant False ZNF492@p.C202F 1 0.235 ENSG00000229676 chr19:22664274-22664274;G/T missense_variant False ZNF497@p.H376Q 1 0.321 ENSG00000174586 chr19:58356508-58356508;G/C missense_variant False ZNF506@p.K66E 1 0.375 ENSG00000081665 chr19:19806061-19806061;T/C missense_variant False ZNF519@p.L34del 1 0.225 ENSG00000175322 chr18:14124377-14124377;CCAA/C inframe_deletion False ZNF526@p.A425P 1 0.138 ENSG00000167625 chr19:42225676-42225676;G/C missense_variant False ZNF527@p.G169R 1 0.692 ENSG00000189164 chr19:37388554-37388554;G/C missense_variant False ZNF528@p.N496K 1 0.035 ENSG00000167555 chr19:52416340-52416340;C/A missense_variant False ZNF536@p.T40P 1 0.082 ENSG00000198597 chr19:30443680-30443680;A/C missense_variant False ZNF540@p.T253S 1 0.042 ENSG00000171817 chr19:37612038-37612038;C/G missense_variant False ZNF547@p.G55E 1 0.454 ENSG00000256060 chr19:57377140-57377140;G/A missense_variant False ZNF551@p.T526S 1 0.068 ENSG00000204519 chr19:57687852-57687852;C/G missense_variant False ZNF560@p.D435Y 1 0.113 ENSG00000198028 chr19:9467644-9467644;C/A missense_variant False ZNF560@p.S527T 1 0.036 ENSG00000198028 chr19:9467368-9467368;A/T missense_variant False ZNF562@p.K263Q 1 0.039 ENSG00000171466 chr19:9653443-9653443;T/G missense_variant False ZNF563@p.R213H 1 0.197 ENSG00000188868 chr19:12319387-12319387;C/T missense_variant False ZNF563@p.Y421* 1 0.286 ENSG00000188868 chr19:12318761-12318761;CAT/C frameshift_variant False ZNF568@p.K391Mfs*5 1 0.133 ENSG00000291239 chr19:36950324-36950324;A/ATGATTCC frameshift_variant False ZNF568@p.P473A 1 0.857 ENSG00000291239 chr19:36950570-36950570;C/G missense_variant False ZNF571@p.S302T 1 0.079 ENSG00000180479 chr19:37565523-37565523;C/G missense_variant False ZNF577@p.H120Yfs*10 1 0.107 ENSG00000161551 chr19:51873632-51873632;G/GCGAGATGGTAGAGATA frameshift_variant False ZNF582@p.S2F 1 0.205 ENSG00000018869 chr19:56391748-56391748;G/A missense_variant False ZNF585A@p.K520N 1 0.063 ENSG00000196967 chr19:37152339-37152339;C/A missense_variant False ZNF598@p.A347Sfs*21 1 0.4 ENSG00000167962 chr16:2001166-2001166;C/CAGGAGGA frameshift_variant False ZNF598@p.R281H 1 0.105 ENSG00000167962 chr16:2002259-2002259;C/T missense_variant False ZNF605@p.E306G 1 0.346 ENSG00000196458 chr12:132926382-132926382;T/C missense_variant False ZNF490@p.C507Pfs*16 1 0.021 ENSG00000188033 chr19:12580556-12580556;A/AGAGTGAGACACCATCTTGGGGTGCGGCGGGGAAAAAAAGG frameshift_variant False ZNF483@p.D429N 1 0.143 ENSG00000173258 chr9:111542220-111542220;G/A missense_variant False ZNF618@p.A312E 1 0.125 ENSG00000157657 chr9:114028823-114028823;C/A missense_variant False ZNF468@p.E91_K92insAFICICLNRTYFSL 1 0.066 ENSG00000204604 chr19:52842021-52842021;C/CAGACTGAAATATGTGCGGTTCAGGCAGATGCAAATGAAAGCT inframe_insertion False ZNF280C@p.N351_H352insTHT 1 0.5 ENSG00000056277 chrX:130229070-130229070;G/GTGTGTGTGT inframe_insertion False ZNF280C@p.N651S 1 0.667 ENSG00000056277 chrX:130215220-130215220;T/C missense_variant False ZNF286A@p.E379G 1 0.939 ENSG00000187607 chr17:15716860-15716860;A/G missense_variant False ZNF287@p.E118G 1 0.579 ENSG00000141040 chr17:16567379-16567379;T/C missense_variant False ZNF292@p.G1315S 1 0.048 ENSG00000188994 chr6:87257572-87257572;G/A missense_variant False ZNF304@p.R632G 1 0.294 ENSG00000131845 chr19:57357763-57357763;C/G missense_variant False ZNF30@p.E460V 1 0.079 ENSG00000168661 chr19:34944345-34944345;A/T missense_variant False ZNF317@p.D449V 1 0.132 ENSG00000130803 chr19:9160991-9160991;A/T missense_variant False ZNF317@p.H440Lfs*55 1 0.154 ENSG00000130803 chr19:9160963-9160963;C/CTT frameshift_variant False ZNF317@p.T441Gfs*54 1 0.154 ENSG00000130803 chr19:9160964-9160964;A/ATGGAAGATATTTTTGGGAAGGAAACGCC frameshift_variant False ZNF318@p.G2181E 1 0.229 ENSG00000171467 chr6:43337456-43337456;C/T missense_variant False ZNF32@p.G40V 1 0.227 ENSG00000169740 chr10:43644753-43644753;C/A missense_variant False ZNF333@p.T501I 1 0.402 ENSG00000160961 chr19:14718829-14718829;C/T missense_variant False ZNF33A@p.K537T 1 0.167 ENSG00000189180 chr10:38055734-38055734;A/C missense_variant False ZNF341@p.K595M 1 0.148 ENSG00000131061 chr20:33783796-33783796;A/T missense_variant False ZNF345@p.G382S 1 0.306 ENSG00000251247 chr19:36877974-36877974;G/A missense_variant False ZNF34@p.Y510C 1 0.341 ENSG00000196378 chr8:144773357-144773357;T/C missense_variant False ZNF366@p.F591Kfs*143 1 0.088 ENSG00000178175 chr5:72444220-72444220;A/ACTCTCATCTCTGTGCTT frameshift_variant False ZNF404@p.E132G 1 0.291 ENSG00000176222 chr19:43873819-43873819;T/C missense_variant False ZNF418@p.I162L 1 0.542 ENSG00000196724 chr19:57927697-57927697;T/G missense_variant False ZNF429@p.R230K 1 0.064 ENSG00000197013 chr19:21536742-21536742;G/A missense_variant False ZNF432@p.G437V 1 0.271 ENSG00000256087 chr19:52034369-52034369;C/A missense_variant False ZNF441@p.C379F 1 0.043 ENSG00000197044 chr19:11780960-11780960;G/T missense_variant False ZNF449@p.S17T 1 0.176 ENSG00000173275 chrX:135347167-135347167;T/A missense_variant False ZNF462@p.E1906D 1 0.5 ENSG00000148143 chr9:106929630-106929630;G/T missense_variant False ZNF609@p.R1165C 1 0.5 ENSG00000180357 chr15:64678206-64678206;C/T missense_variant False ZNF638@p.D1717N 1 0.278 ENSG00000075292 chr2:71427018-71427018;G/A missense_variant False ZNF264@p.F436L 1 0.154 ENSG00000083844 chr19:57212403-57212403;T/C missense_variant False ZNF805@p.G283E 1 0.216 ENSG00000204524 chr19:57253667-57253667;G/A missense_variant False ZNF814@p.A517E 1 0.028 ENSG00000204514 chr19:57873840-57873840;G/T missense_variant False ZNF814@p.G628R 1 0.04 ENSG00000204514 chr19:57873508-57873508;C/T missense_variant False ZNF816@p.G337R 1 0.043 ENSG00000180257 chr19:52950766-52950766;C/T missense_variant False ZNF831@p.L1328Hfs*2 1 0.089 ENSG00000124203 chr20:59207009-59207009;G/GCC frameshift_variant False ZNF831@p.L1328Pfs*50 1 0.089 ENSG00000124203 chr20:59207011-59207011;C/CCATGCCCAGCTAATTTTGTGTA frameshift_variant False ZNF831@p.P1323Hfs*5 1 0.08 ENSG00000124203 chr20:59206996-59206996;C/CACAG frameshift_variant False ZNF83@p.E293_G295delinsD 1 0.155 ENSG00000167766 chr19:52613680-52613680;GCCACAC/G inframe_deletion False ZNF841@p.W22R 1 0.267 ENSG00000197608 chr19:52077036-52077036;A/T missense_variant False ZNF875@p.A555Efs*27 1 0.5 ENSG00000181666 chr19:37363515-37363515;G/GAAATCAAACCTCAAAACACACCAGAGGA frameshift_variant False ZNF879@p.T144S 1 0.116 ENSG00000234284 chr5:179032378-179032378;A/T missense_variant False ZNF8@p.E125_G126insLIYL 1 0.5 ENSG00000278129 chr19:58294183-58294183;A/ACTCATATACCTT inframe_insertion False ZNF90@p.A534E 1 0.094 ENSG00000213988 chr19:20119155-20119155;C/A missense_variant False ZNF91@p.K845Q 1 0.372 ENSG00000167232 chr19:23360446-23360446;T/G missense_variant False ZNF98@p.L20I 1 0.061 ENSG00000197360 chr19:22403485-22403485;A/T missense_variant False ZNFX1@p.Q1463_P1464insCKKKCGELCS 1 0.667 ENSG00000124201 chr20:49248634-49248634;G/GACTACACAGCTCCCCACATTTCTTCTTGCA inframe_insertion False ZNHIT1@p.R16W 1 0.253 ENSG00000106400 chr7:101222627-101222627;C/T missense_variant False ZSCAN10@p.G556D 1 0.286 ENSG00000130182 chr16:3089767-3089767;C/T missense_variant False ZSCAN1@p.A404V 1 0.122 ENSG00000152467 chr19:58054035-58054035;C/T missense_variant False ZSWIM2@p.M306Cfs*18 1 0.429 ENSG00000163012 chr2:186833145-186833145;TC/T frameshift_variant False ZSWIM2@p.N469Y 1 0.173 ENSG00000163012 chr2:186828481-186828481;T/A missense_variant False ZSWIM5@p.A843S 1 0.19 ENSG00000162415 chr1:45020711-45020711;C/A missense_variant False ZSWIM5@p.M633Sfs*3 1 0.4 ENSG00000162415 chr1:45036296-45036296;A/AC frameshift_variant False ZSWIM8@p.E959D 1 0.215 ENSG00000214655 chr10:73794608-73794608;G/T missense_variant False ZYG11B@p.L404Q 1 0.085 ENSG00000162378 chr1:52784995-52784995;T/A missense_variant False ZZEF1@p.T566A 1 0.333 ENSG00000074755 chr17:4096677-4096677;T/C missense_variant False ZNF813@p.T339K 1 0.231 ENSG00000198346 chr19:53491248-53491248;C/A missense_variant False ZNF800@p.V309F 1 0.3 ENSG00000048405 chr7:127374411-127374411;C/A missense_variant False ZNF649@p.L98M 1 0.14 ENSG00000198093 chr19:51891844-51891844;G/T missense_variant False ZNF79@p.E358K 1 0.113 ENSG00000196152 chr9:127444772-127444772;G/A missense_variant False ZNF652@p.P529Q 1 0.202 ENSG00000198740 chr17:49298648-49298648;G/T missense_variant False ZNF667@p.A20T 1 0.5 ENSG00000198046 chr19:56460791-56460791;C/T missense_variant False ZNF667@p.N276K 1 0.059 ENSG00000198046 chr19:56442167-56442167;A/T missense_variant False ZNF671@p.L66P 1 0.105 ENSG00000083814 chr19:57723282-57723282;A/G missense_variant False ZNF675@p.I478K 1 0.094 ENSG00000197372 chr19:23653500-23653500;A/T missense_variant False ZNF680@p.M397K 1 0.038 ENSG00000173041 chr7:64521564-64521564;A/T missense_variant False ZNF682@p.Y369C 1 0.5 ENSG00000197124 chr19:20006396-20006396;T/C missense_variant False ZNF687@p.G1059Afs*67 1 0.052 ENSG00000143373 chr1:151290528-151290528;TG/T frameshift_variant False ZNF69@p.R377K 1 0.152 ENSG00000198429 chr19:11905527-11905527;G/A missense_variant False ZNF711@p.N795Ifs*5 1 0.212 ENSG00000147180 chrX:85271781-85271781;GA/G frameshift_variant False ZNF727@p.P311T 1 0.386 ENSG00000214652 chr7:64077980-64077980;C/A missense_variant False ZNF728@p.T404A 1 0.064 ENSG00000269067 chr19:22976127-22976127;T/C missense_variant False ZNF729@p.A967E 1 0.07 ENSG00000196350 chr19:22316317-22316317;C/A missense_variant False ZNF729@p.G820A 1 0.049 ENSG00000196350 chr19:22315876-22315876;G/C missense_variant False ZNF730@p.G207V 1 0.4 ENSG00000183850 chr19:23145664-23145664;G/T missense_variant False ZNF735@p.H120N 1 0.191 ENSG00000223614 chr7:64219409-64219409;C/A missense_variant False ZNF749@p.A569P 1 0.114 ENSG00000186230 chr19:57444853-57444853;G/C missense_variant False ZNF749@p.D95H 1 0.384 ENSG00000186230 chr19:57443431-57443431;G/C missense_variant False ZNF750@p.H250R 1 0.018 ENSG00000141579 chr17:82831706-82831706;T/C missense_variant False ZNF750@p.S440Kfs*22 1 0.129 ENSG00000141579 chr17:82831136-82831136;C/CCCTCTTT frameshift_variant False ZNF773@p.K173E 1 0.167 ENSG00000152439 chr19:57506612-57506612;A/G missense_variant False ZNF775@p.R127H 1 0.069 ENSG00000196456 chr7:150396861-150396861;G/A missense_variant False ZNF782@p.Q601L 1 0.4 ENSG00000196597 chr9:96818221-96818221;T/A missense_variant False ZNF790@p.G92A 1 0.158 ENSG00000197863 chr19:36820069-36820069;C/G missense_variant False ZNF793@p.P226S 1 0.046 ENSG00000188227 chr19:37537334-37537334;C/T missense_variant False ZNF274@p.Y535N 1 0.571 ENSG00000171606 chr19:58212784-58212784;T/A missense_variant False ZNF239@p.R331S 1 0.038 ENSG00000196793 chr10:43557089-43557089;G/T missense_variant False WDPCP@p.E258K 1 0.161 ENSG00000143951 chr2:63433798-63433798;C/T missense_variant False XIRP1@p.T1311S 1 0.255 ENSG00000168334 chr3:39185514-39185514;G/C missense_variant False XKR9@p.K248R 1 0.1 ENSG00000221947 chr8:70734045-70734045;A/G missense_variant False XPO4@p.P444S 1 0.871 ENSG00000132953 chr13:20809811-20809811;G/A missense_variant False XPO4@p.T1124S 1 0.156 ENSG00000132953 chr13:20783808-20783808;T/A missense_variant False XPO5@p.M685Hfs*9 1 0.048 ENSG00000124571 chr6:43548269-43548269;G/GA frameshift_variant False XPO5@p.M685R 1 0.048 ENSG00000124571 chr6:43548267-43548267;A/C missense_variant False XPO5@p.S412Ffs*2 1 0.429 ENSG00000124571 chr6:43558578-43558578;G/GA frameshift_variant False XPO5@p.S727N 1 0.094 ENSG00000124571 chr6:43546733-43546733;C/T missense_variant False XPO6@p.I605F 1 0.043 ENSG00000169180 chr16:28121716-28121716;T/A missense_variant False XPOT@p.R778L 1 0.14 ENSG00000184575 chr12:64433484-64433484;G/T missense_variant False XPR1@p.Q88Rfs*55 1 0.315 ENSG00000143324 chr1:180803425-180803425;TC/T frameshift_variant False XRN1@p.G776Rfs*16 1 0.6 ENSG00000114127 chr3:142397343-142397343;T/TC frameshift_variant False YME1L1@p.A224S 1 0.273 ENSG00000136758 chr10:27134852-27134852;C/A missense_variant False YOD1@p.A83Vfs*38 1 0.75 ENSG00000180667 chr1:207050783-207050783;G/GAAGGCACCAGGTA frameshift_variant False YRDC@p.V149G 1 0.8 ENSG00000196449 chr1:37807159-37807159;A/C missense_variant False YTHDC1@p.E556K 1 1.0 ENSG00000083896 chr4:68320141-68320141;C/T missense_variant False ZACN@p.H168_N170del 1 0.13 ENSG00000186919 chr17:76080379-76080379;GACCACAGCA/G inframe_deletion False ZBED9@p.E1073K 1 0.314 ENSG00000232040 chr6:28572672-28572672;C/T missense_variant False ZBTB11@p.G892Vfs*7 1 0.156 ENSG00000066422 chr3:101651653-101651653;C/CTTCAGTAGCTGCAA frameshift_variant False ZBTB11@p.M456T 1 0.083 ENSG00000066422 chr3:101665220-101665220;A/G missense_variant False ZBTB11@p.V1008A 1 0.1 ENSG00000066422 chr3:101651305-101651305;A/G missense_variant False ZBTB20@p.E711K 1 0.185 ENSG00000181722 chr3:114339100-114339100;C/T missense_variant False ZBTB20@p.S472R 1 0.818 ENSG00000181722 chr3:114350662-114350662;A/C missense_variant False ZBTB40@p.S190Cfs*26 1 0.044 ENSG00000184677 chr1:22490516-22490516;T/TGTTTCATTCAAGG frameshift_variant False ZBTB44@p.D223G 1 0.556 ENSG00000196323 chr11:130261206-130261206;T/C missense_variant False ZBTB46@p.S322R 1 0.388 ENSG00000130584 chr20:63775934-63775934;G/T missense_variant False XKR7@p.R492H 1 0.42 ENSG00000260903 chr20:31997192-31997192;G/A missense_variant False XIRP1@p.A428V 1 0.04 ENSG00000168334 chr3:39188163-39188163;G/A missense_variant False ZBTB4@p.A572Gfs*52 1 0.472 ENSG00000174282 chr17:7463267-7463267;G/GAGACTTGCATCTCTTGGGGGGCTTCCTCCTTGACATCCCCGGGC frameshift_variant False XDH@p.D719_L720insNSHICLTALGLPG 1 0.333 ENSG00000158125 chr2:31368001-31368001;G/GCCTGGCAGACCTAAGGCTGTCAGGCATATGTGGCTGTTA inframe_insertion False WDPCP@p.E503Q 1 0.938 ENSG00000143951 chr2:63382023-63382023;C/G missense_variant False WDR24@p.E662K 1 0.226 ENSG00000127580 chr16:685292-685292;C/T missense_variant False WDR24@p.L190Pfs*107 1 0.333 ENSG00000127580 chr16:687652-687652;A/ATGGGGTG frameshift_variant False WDR35@p.V344I 1 0.138 ENSG00000118965 chr2:19966888-19966888;C/T missense_variant False WDR37@p.R18H 1 0.097 ENSG00000047056 chr10:1072208-1072208;G/A missense_variant False WDR46@p.L210V 1 0.228 ENSG00000227057 chr6:33287714-33287714;G/C missense_variant False WDR5@p.S189G 1 0.043 ENSG00000196363 chr9:134148324-134148324;A/G missense_variant False WDR72@p.L692V 1 0.441 ENSG00000166415 chr15:53616132-53616132;G/C missense_variant False WDR7@p.F693L 1 0.153 ENSG00000091157 chr18:56756670-56756670;T/C missense_variant False WDR81@p.V1468A 1 0.271 ENSG00000167716 chr17:1732745-1732745;T/C missense_variant False WDR87@p.N18K 1 0.139 ENSG00000171804 chr19:37898186-37898186;A/T missense_variant False WDR97@p.S945Y 1 0.568 ENSG00000179698 chr8:144112083-144112083;C/A missense_variant False WFDC10B@p.A63S 1 0.418 ENSG00000182931 chr20:45684865-45684865;C/A missense_variant False WIPF1@p.V3F 1 1.0 ENSG00000115935 chr2:174585567-174585567;C/A missense_variant False WIPF2@p.C45W 1 0.077 ENSG00000171475 chr17:40260606-40260606;C/G missense_variant False WIPI2@p.R143W 1 0.25 ENSG00000157954 chr7:5216608-5216608;C/T missense_variant False WIZ@p.R1293S 1 0.179 ENSG00000011451 chr19:15427471-15427471;G/T missense_variant False WNK1@p.K1653N 1 0.1 ENSG00000060237 chr12:885763-885763;G/T missense_variant False WNK4@p.P609S 1 0.068 ENSG00000126562 chr17:42787861-42787861;C/T missense_variant False WNK4@p.R172Q 1 0.156 ENSG00000126562 chr17:42781213-42781213;G/A missense_variant False WNT5A@p.L299_V300insEIFFIFPQELQP 1 0.471 ENSG00000114251 chr3:55470338-55470338;C/CGGTTGCAATTCTTGGGGAAAAATAAAAAATATTTCT inframe_insertion False WNT5A@p.V300Efs*110 1 0.458 ENSG00000114251 chr3:55470336-55470336;A/ATT frameshift_variant False WRAP73@p.Q455E 1 0.299 ENSG00000116213 chr1:3630995-3630995;G/C missense_variant False WWC1@p.E1020D 1 0.125 ENSG00000113645 chr5:168464872-168464872;A/T missense_variant False WWC3@p.I248M 1 0.5 ENSG00000047644 chrX:10109790-10109790;C/G missense_variant False ZBTB48@p.H511N 1 0.035 ENSG00000204859 chr1:6588292-6588292;C/A missense_variant False ZBTB6@p.R415S 1 0.222 ENSG00000186130 chr9:122910828-122910828;C/G missense_variant False ZNF211@p.C247S 1 0.224 ENSG00000121417 chr19:57641187-57641187;G/C missense_variant False ZFP64@p.R186Lfs*20 1 0.133 ENSG00000020256 chr20:52160329-52160329;C/CAAGGCCAGTGGACAGCCAGCCAGCCCATGGCCAGCAGATCCCCA frameshift_variant False ZFYVE26@p.L160F 1 0.056 ENSG00000072121 chr14:67807806-67807806;G/A missense_variant False ZFYVE26@p.P2229Sfs*15 1 0.232 ENSG00000072121 chr14:67756049-67756049;G/GTCATGGCGGCCCGA frameshift_variant False ZFYVE26@p.P616_S617insVSEHWGMLHV 1 0.273 ENSG00000072121 chr14:67798413-67798413;A/AGACATGGAGCATACCCCAGTGTTCTGACAC inframe_insertion False ZFYVE26@p.T2230Vfs*37 1 0.221 ENSG00000072121 chr14:67756047-67756047;T/TACTTTGCTTTGTGACTGAAGAACCGAATACA frameshift_variant False ZGRF1@p.E1769V 1 0.289 ENSG00000138658 chr4:112553875-112553875;T/A missense_variant False ZIC2@p.G339V 1 0.42 ENSG00000043355 chr13:99983080-99983080;G/T missense_variant False ZIK1@p.H341Q 1 0.092 ENSG00000171649 chr19:57590834-57590834;C/G missense_variant False ZKSCAN5@p.E553G 1 0.056 ENSG00000196652 chr7:99531387-99531387;A/G missense_variant False ZMAT1@p.E150K 1 0.127 ENSG00000166432 chrX:101898172-101898172;C/T missense_variant False ZMAT1@p.M399I 1 0.405 ENSG00000166432 chrX:101884401-101884401;C/G missense_variant False ZMIZ2@p.G552S 1 0.094 ENSG00000122515 chr7:44762938-44762938;G/A missense_variant False ZMYND12@p.A95V 1 0.167 ENSG00000066185 chr1:42448607-42448607;G/A missense_variant False ZMYND8@p.G642C 1 0.187 ENSG00000101040 chr20:47246368-47246368;C/A missense_variant False ZNF142@p.A952V 1 0.767 ENSG00000115568 chr2:218644261-218644261;G/A missense_variant False ZNF148@p.K394T 1 0.089 ENSG00000163848 chr3:125233545-125233545;T/G missense_variant False ZNF157@p.R284H 1 0.415 ENSG00000147117 chrX:47412924-47412924;G/A missense_variant False ZNF182@p.I595S 1 0.321 ENSG00000147118 chrX:47976246-47976246;A/C missense_variant False ZNF202@p.D11E 1 0.056 ENSG00000166261 chr11:123730856-123730856;A/T missense_variant False ZNF202@p.D11Lfs*15 1 0.056 ENSG00000166261 chr11:123730858-123730858;C/CTCGGAGTCTGATGAGAG frameshift_variant False ZNF205@p.P299A 1 0.212 ENSG00000122386 chr16:3119555-3119555;C/G missense_variant False ZNF208@p.K778I 1 0.469 ENSG00000160321 chr19:21972701-21972701;T/A missense_variant False ZNF208@p.K964T 1 0.115 ENSG00000160321 chr19:21972143-21972143;T/G missense_variant False ZNF208@p.V685I 1 0.14 ENSG00000160321 chr19:21972981-21972981;C/T missense_variant False ZNF20@p.E414K 1 0.121 ENSG00000132010 chr19:12132946-12132946;C/T missense_variant False ZNF20@p.G345S 1 0.169 ENSG00000132010 chr19:12133153-12133153;C/T missense_variant False ZFP82@p.I417L 1 0.111 ENSG00000181007 chr19:36393091-36393091;T/G missense_variant False ZFP62@p.F262L 1 0.438 ENSG00000278970 chr5:180850709-180850709;G/T missense_variant False ZBTB7B@p.A109_T110insVIYQLSGVRGDSL 1 0.241 ENSG00000160685 chr1:155014987-155014987;C/CGTTATTTATCAACTGTCAGGGGTACGTGGGGATTCCTTA inframe_insertion False ZFP36@p.P222S 1 0.053 ENSG00000128016 chr19:39408382-39408382;C/T missense_variant False ZBTB7B@p.S539Pfs*16 1 0.129 ENSG00000160685 chr1:155016678-155016678;C/CACCGCACCCACAGGGCTGTG frameshift_variant False ZBTB7B@p.V51Sfs*10 1 0.333 ENSG00000160685 chr1:155014808-155014808;G/GCTAGTTTCCTTGT frameshift_variant False ZBTB8B@p.E97A 1 0.058 ENSG00000273274 chr1:32470914-32470914;A/C missense_variant False ZC2HC1C@p.G441Dfs*12 1 0.057 ENSG00000119703 chr14:75071894-75071894;G/GACTCCTGGGATGA frameshift_variant False ZC2HC1C@p.L49Q 1 0.833 ENSG00000119703 chr14:75070719-75070719;T/A missense_variant False ZC2HC1C@p.S82Gfs*74 1 0.12 ENSG00000119703 chr14:75070812-75070812;C/CGAGAGGACTTGTCCCCAGAGGTGGAGTCCGAAGTGGGGGCG frameshift_variant False ZC3H13@p.E775Rfs*88 1 0.25 ENSG00000123200 chr13:45975422-45975422;CTCTTTCT/C frameshift_variant False ZC3H14@p.E2K 1 0.04 ENSG00000100722 chr14:88563137-88563137;G/A missense_variant False ZC3H3@p.A901V 1 0.667 ENSG00000014164 chr8:143440154-143440154;G/A missense_variant False ZC3H6@p.A298E 1 1.0 ENSG00000188177 chr2:112317249-112317249;C/A missense_variant False ZC3H7A@p.E814V 1 0.287 ENSG00000122299 chr16:11756358-11756358;T/A missense_variant False ZC3H7B@p.C494F 1 0.103 ENSG00000100403 chr22:41346024-41346024;G/T missense_variant False ZCCHC12@p.Q368H 1 0.25 ENSG00000174460 chrX:118826348-118826348;G/T missense_variant False ZCCHC3@p.P283S 1 0.086 ENSG00000247315 chr20:298433-298433;C/T missense_variant False ZDBF2@p.E89* 1 0.5 ENSG00000204186 chr2:206304792-206304792;A/AT frameshift_variant False ZDHHC11@p.G200R 1 0.05 ENSG00000188818 chr5:843630-843630;C/T missense_variant False ZDHHC11B@p.P25S 1 0.093 ENSG00000206077 chr5:766847-766847;G/A missense_variant False ZDHHC11B@p.R287S 1 0.5 ENSG00000206077 chr5:745222-745222;C/A missense_variant False ZDHHC5@p.N218I 1 0.533 ENSG00000156599 chr11:57690430-57690430;A/T missense_variant False ZDHHC5@p.S484L 1 0.023 ENSG00000156599 chr11:57698887-57698887;C/T missense_variant False ZER1@p.V510Ffs*35 1 0.2 ENSG00000160445 chr9:128742577-128742577;C/CTCCAGGAGAA frameshift_variant False ZFAT@p.L634Q 1 0.078 ENSG00000066827 chr8:134601818-134601818;A/T missense_variant False ZFHX2@p.V1924Gfs*3 1 0.07 ENSG00000136367 chr14:23524171-23524171;A/AC frameshift_variant False ZFHX3@p.D2967N 1 0.068 ENSG00000140836 chr16:72793783-72793783;C/T missense_variant False ZFHX4@p.T1187P 1 0.158 ENSG00000091656 chr8:76849042-76849042;A/C missense_variant False TMPRSS3@p.K134N 1 0.145 ENSG00000160183 chr21:42388447-42388447;C/G missense_variant False TMEM63C@p.V378I 1 0.075 ENSG00000165548 chr14:77242414-77242414;G/A missense_variant False SACS@p.M4155L 1 0.168 ENSG00000151835 chr13:23331413-23331413;T/G missense_variant False SLC43A3@p.G423S 1 0.085 ENSG00000134802 chr11:57409279-57409279;C/T missense_variant False SLC45A2@p.R298H 1 0.528 ENSG00000164175 chr5:33954500-33954500;C/T missense_variant False SLC45A3@p.S546C 1 0.17 ENSG00000158715 chr1:205659260-205659260;T/A missense_variant False SLC46A2@p.R169C 1 0.13 ENSG00000119457 chr9:112890177-112890177;G/A missense_variant False SLC4A5@p.I1091M 1 0.39 ENSG00000188687 chr2:74222926-74222926;T/C missense_variant False SLC4A7@p.L174V 1 0.125 ENSG00000033867 chr3:27436457-27436457;G/C missense_variant False SLC52A1@p.A199_R212del 1 0.182 ENSG00000132517 chr17:5033851-5033851;CCCCGGAAGGCGGCAGCTGAAGTGACCAGAAGGGCAGTCAGTG/C inframe_deletion False SLC5A10@p.R465Q 1 0.118 ENSG00000154025 chr17:19019575-19019575;G/A missense_variant False SLC5A4@p.A189T 1 0.108 ENSG00000100191 chr22:32239003-32239003;C/T missense_variant False SLC5A6@p.Q275Sfs*52 1 0.057 ENSG00000138074 chr2:27204843-27204843;G/GATTGA frameshift_variant False SLC5A9@p.I278M 1 0.207 ENSG00000117834 chr1:48232088-48232088;C/G missense_variant False SLC5A9@p.V196L 1 0.018 ENSG00000117834 chr1:48230681-48230681;G/T missense_variant False SLC6A11@p.E577D 1 0.024 ENSG00000132164 chr3:10935184-10935184;G/C missense_variant False SLC6A14@p.L411V 1 0.265 ENSG00000268104 chrX:116453088-116453088;T/G missense_variant False SLC6A17@p.W163S 1 0.168 ENSG00000197106 chr1:110174016-110174016;G/C missense_variant False SLC6A1@p.A407V 1 0.17 ENSG00000157103 chr3:11029249-11029249;C/T missense_variant False SLC6A3@p.D506V 1 0.085 ENSG00000142319 chr5:1406270-1406270;T/A missense_variant False SLC7A13@p.P75T 1 0.107 ENSG00000164893 chr8:86230055-86230055;G/T missense_variant False SLC7A1@p.E221Q 1 0.253 ENSG00000139514 chr13:29530581-29530581;C/G missense_variant False SLC7A7@p.Y104C 1 0.042 ENSG00000155465 chr14:22813088-22813088;T/C missense_variant False SLC8A1@p.E279V 1 0.241 ENSG00000183023 chr2:40429445-40429445;T/A missense_variant False SLC8A2@p.L55Yfs*15 1 0.081 ENSG00000118160 chr19:47466241-47466241;G/GTGGTGTA frameshift_variant False SLC9A2@p.H563R 1 0.181 ENSG00000115616 chr2:102701171-102701171;A/G missense_variant False SLC9A3R1@p.A3T 1 0.538 None chr17:74748853-74748853;G/A missense_variant False SLC9A4@p.A398Yfs*14 1 0.5 ENSG00000180251 chr2:102505464-102505464;A/ATATTCCT frameshift_variant False SLCO1B1@p.G98E 1 0.211 ENSG00000134538 chr12:21174643-21174643;G/A missense_variant False SLC44A1@p.A315T 1 0.051 ENSG00000070214 chr9:105362863-105362863;G/A missense_variant False SLC35F6@p.G74E 1 0.232 ENSG00000213699 chr2:26775114-26775114;G/A missense_variant False SLCO4C1@p.N452Kfs*12 1 0.667 ENSG00000173930 chr5:102257215-102257215;CAAACTTCATTGTG/C frameshift_variant False SLC35A4@p.A86G 1 0.064 ENSG00000176087 chr5:140567426-140567426;C/G missense_variant False SLC17A6@p.K386N 1 0.164 ENSG00000091664 chr11:22374871-22374871;G/T missense_variant False SLC17A8@p.A295Gfs*5 1 0.75 ENSG00000179520 chr12:100402454-100402454;A/AG frameshift_variant False SLC18A3@p.R482H 1 0.159 ENSG00000187714 chr10:49612185-49612185;G/A missense_variant False SLC22A15@p.G393V 1 0.412 ENSG00000163393 chr1:116062768-116062768;G/T missense_variant False SLC22A17@p.F274L 1 0.323 ENSG00000092096 chr14:23349309-23349309;A/T missense_variant False SLC22A17@p.R433H 1 0.042 ENSG00000092096 chr14:23347711-23347711;C/T missense_variant False SLC22A7@p.E66G 1 0.174 ENSG00000137204 chr6:43298555-43298555;A/G missense_variant False SLC25A12@p.I561Hfs*39 1 0.5 ENSG00000115840 chr2:171787853-171787853;G/GA frameshift_variant False SLC25A12@p.V560Ffs*53 1 0.5 ENSG00000115840 chr2:171787855-171787855;C/CTCGAGCTGAAAAAGAGAAGCAGGGGCAGGGGAGACTTGAA frameshift_variant False SLC25A23@p.A253V 1 0.051 ENSG00000125648 chr19:6454360-6454360;G/A missense_variant False SLC25A33@p.Q76R 1 0.077 ENSG00000171612 chr1:9553796-9553796;A/G missense_variant False SLC25A36@p.I292T 1 0.1 ENSG00000114120 chr3:140976392-140976392;T/C missense_variant False SLC25A39@p.K250R 1 0.176 ENSG00000013306 chr17:44320674-44320674;T/C missense_variant False SLC26A4@p.L438V 1 0.077 ENSG00000091137 chr7:107694451-107694451;C/G missense_variant False SLC26A4@p.R409H 1 0.024 ENSG00000091137 chr7:107690200-107690200;G/A missense_variant False SLC28A1@p.C377G 1 0.259 ENSG00000156222 chr15:84933190-84933190;T/G missense_variant False SLC28A1@p.G457R 1 0.105 ENSG00000156222 chr15:84935180-84935180;G/C missense_variant False SLC29A4@p.G402D 1 0.053 ENSG00000164638 chr7:5299423-5299423;G/A missense_variant False SLC2A10@p.A506E 1 0.133 ENSG00000197496 chr20:46729458-46729458;C/A missense_variant False SLC2A13@p.A509T 1 0.045 ENSG00000151229 chr12:39764779-39764779;C/T missense_variant False SLC2A5@p.M372I 1 0.154 ENSG00000142583 chr1:9038489-9038489;C/T missense_variant False SLC2A5@p.M372R 1 0.148 ENSG00000142583 chr1:9038490-9038490;A/C missense_variant False SLC31A2@p.G107D 1 0.041 ENSG00000136867 chr9:113162805-113162805;G/A missense_variant False SLC34A2@p.V316L 1 0.362 ENSG00000157765 chr4:25671619-25671619;G/C missense_variant False SLC35A1@p.I181T 1 0.132 ENSG00000164414 chr6:87506416-87506416;T/C missense_variant False SLCO2B1@p.V189L 1 0.067 ENSG00000137491 chr11:75169289-75169289;G/C missense_variant False SLCO5A1@p.Y566Pfs*8 1 0.063 ENSG00000137571 chr8:69682270-69682270;A/AATCCCAGCACTTTGGAAGG frameshift_variant False SLC17A4@p.L401Yfs*20 1 0.244 ENSG00000146039 chr6:25776891-25776891;G/GTATATAAAGAAAAGCCACAAATGTGGACAGT frameshift_variant False SNF8@p.G165_T166insSRVLCRSLTQYV 1 0.25 ENSG00000159210 chr17:48933273-48933273;T/TAACATACTGAGTTAGACTTCTGCAAAGCACTCTAGA inframe_insertion False SNIP1@p.G158Vfs*39 1 0.93 ENSG00000163877 chr1:37540612-37540612;A/AATTCCCCCGGTTCCATGGAAAAACTGTCTTCCATGAAACT frameshift_variant False SNRPC@p.P109S 1 0.6 ENSG00000124562 chr6:34770365-34770365;C/T missense_variant False SNTA1@p.F176_K177insSGQLTSGDELGL 1 0.081 ENSG00000101400 chr20:33417891-33417891;T/TCAGACCAAGTTCATCCCCAGATGTGAGCTGCCCAGA inframe_insertion False SNTB2@p.E46Gfs*66 1 0.118 ENSG00000168807 chr16:69187278-69187278;C/CGAGTGGTGGCCGAGCT frameshift_variant False SNTG1@p.V27L 1 0.043 ENSG00000147481 chr8:50402261-50402261;G/C missense_variant False SNX11@p.H123Efs*21 1 0.357 ENSG00000002919 chr17:48119013-48119013;G/GGAGGCAGGCAGGGATCACGAGGTCAGAT frameshift_variant False SNX13@p.S857Rfs*27 1 0.2 ENSG00000071189 chr7:17796882-17796882;A/AATATCCTAAGCAATTGTTT frameshift_variant False SNX13@p.W403Cfs*44 1 0.143 ENSG00000071189 chr7:17839955-17839955;ATC/A frameshift_variant False SNX20@p.R260W 1 0.105 ENSG00000167208 chr16:50673579-50673579;G/A missense_variant False SNX6@p.I36V 1 0.222 ENSG00000129515 chr14:34609691-34609691;T/C missense_variant False SOAT2@p.Y403Sfs*41 1 0.164 ENSG00000167780 chr12:53121369-53121369;C/CTTTCCTGGTTTACCCAGGACTGTCT frameshift_variant False SORCS1@p.A506V 1 0.652 ENSG00000108018 chr10:106688235-106688235;G/A missense_variant False SOS2@p.R368I 1 0.12 ENSG00000100485 chr14:50161575-50161575;C/A missense_variant False SP100@p.D80* 1 0.077 ENSG00000067066 chr2:230443065-230443065;G/GC frameshift_variant False SP140@p.M735Rfs*26 1 0.395 ENSG00000079263 chr2:230310768-230310768;AGGAT/A frameshift_variant False SP7@p.T355P 1 0.181 ENSG00000170374 chr12:53328379-53328379;T/G missense_variant False SPAG6@p.T129M 1 0.164 ENSG00000077327 chr10:22368592-22368592;C/T missense_variant False SPARCL1@p.A487S 1 0.818 ENSG00000152583 chr4:87490345-87490345;C/A missense_variant False SPATA18@p.L465* 1 0.286 ENSG00000163071 chr4:52082419-52082419;CT/C frameshift_variant False SPATA18@p.P286R 1 0.056 ENSG00000163071 chr4:52076877-52076877;C/G missense_variant False SPATA31A1@p.H502R 1 0.429 ENSG00000204849 chr9:39359270-39359270;A/G missense_variant False SPATA31A3@p.G901V 1 0.143 ENSG00000275969 chr9:66987796-66987796;C/A missense_variant False SPATA31A6@p.G1060R 1 0.658 ENSG00000185775 chr9:42188880-42188880;G/A missense_variant False SPATA31A6@p.Q1152H 1 0.163 ENSG00000185775 chr9:42189158-42189158;G/T missense_variant False SPATA31E1@p.G1068R 1 0.175 ENSG00000177992 chr9:87887689-87887689;G/A missense_variant False SNIP1@p.G158Rfs*26 1 0.92 ENSG00000163877 chr1:37540611-37540611;C/CG frameshift_variant False SNAPC2@p.T131Sfs*29 1 0.25 ENSG00000104976 chr19:7922052-7922052;C/CTCTTTCCTTTCTAG frameshift_variant False SLCO5A1@p.Y566_E567insRC 1 0.063 ENSG00000137571 chr8:69682268-69682268;A/ACACCTG inframe_insertion False SMPDL3B@p.D281E 1 0.083 ENSG00000130768 chr1:27955836-27955836;C/A missense_variant False SLCO6A1@p.A483S 1 0.144 ENSG00000205359 chr5:102419851-102419851;C/A missense_variant False SLIT1@p.E94G 1 0.276 ENSG00000187122 chr10:97163440-97163440;T/C missense_variant False SLITRK3@p.D697A 1 0.08 ENSG00000121871 chr3:165188741-165188741;T/G missense_variant False SLITRK3@p.G720V 1 0.136 ENSG00000121871 chr3:165188672-165188672;C/A missense_variant False SLITRK3@p.I164L 1 0.647 ENSG00000121871 chr3:165190341-165190341;T/G missense_variant False SLITRK6@p.N235K 1 0.24 ENSG00000184564 chr13:85795804-85795804;G/C missense_variant False SLK@p.L782F 1 0.9 ENSG00000065613 chr10:104003524-104003524;A/C missense_variant False SLU7@p.I74F 1 0.25 ENSG00000164609 chr5:160414423-160414423;T/A missense_variant False SLU7@p.R259Q 1 0.267 ENSG00000164609 chr5:160408372-160408372;C/T missense_variant False SLX4@p.S348N 1 0.126 ENSG00000188827 chr16:3601099-3601099;C/T missense_variant False SMAD7@p.R164Gfs*45 1 0.25 ENSG00000101665 chr18:48949935-48949935;T/TCTGCCCCCGCC frameshift_variant False SMARCA4@p.R1203H 1 0.444 ENSG00000127616 chr19:11033351-11033351;G/A missense_variant True SMARCB1@p.D259Efs*29 1 0.082 ENSG00000099956 chr22:23816917-23816917;A/AGGTGAGGGAGGCCGGTCCATGC frameshift_variant True SMARCC2@p.E829D 1 0.156 ENSG00000139613 chr12:56169837-56169837;C/G missense_variant False SMARCD3@p.V420I 1 0.176 ENSG00000082014 chr7:151239662-151239662;C/T missense_variant False SMC1B@p.H236R 1 0.34 ENSG00000077935 chr22:45402480-45402480;T/C missense_variant False SMC4@p.Q1130E 1 0.02 ENSG00000113810 chr3:160432373-160432373;C/G missense_variant False SMC6@p.D583N 1 0.179 ENSG00000163029 chr2:17708737-17708737;C/T missense_variant False SMCHD1@p.D1276H 1 0.273 ENSG00000101596 chr18:2747546-2747546;G/C missense_variant False SMCHD1@p.L1491F 1 0.619 ENSG00000101596 chr18:2762143-2762143;A/T missense_variant False SMCO1@p.Q132L 1 0.075 ENSG00000214097 chr3:196508137-196508137;T/A missense_variant False SMG5@p.K375N 1 0.125 ENSG00000198952 chr1:156266671-156266671;C/A missense_variant False SMIM21@p.K32Q 1 0.229 ENSG00000206026 chr18:75427470-75427470;T/G missense_variant False SMIM7@p.R36S 1 0.188 ENSG00000268790 chr19:16659408-16659408;C/A missense_variant False SMO@p.A695Cfs*122 1 0.176 ENSG00000128602 chr7:129212162-129212162;A/AC frameshift_variant True SLC17A6@p.G489V 1 0.13 ENSG00000091664 chr11:22377457-22377457;G/T missense_variant False SLC16A6@p.R176H 1 0.091 ENSG00000108932 chr17:68271633-68271633;C/T missense_variant False SPEF2@p.T1700S 1 0.404 ENSG00000152582 chr5:35806794-35806794;A/T missense_variant False SEL1L3@p.I162F 1 0.063 ENSG00000091490 chr4:25847543-25847543;T/A missense_variant False SEMA3B@p.G609R 1 0.08 ENSG00000012171 chr3:50275824-50275824;G/A missense_variant False SEMA3C@p.A207V 1 0.066 ENSG00000075223 chr7:80805677-80805677;G/A missense_variant False SEMA3E@p.E756Kfs*30 1 0.123 ENSG00000170381 chr7:83367647-83367647;TC/T frameshift_variant False SEMA4A@p.H261Lfs*41 1 0.364 ENSG00000196189 chr1:156160995-156160995;G/GACTGTTAGGCGCAGGGGGTATATGGCAGGGAAGAAGGCAAA frameshift_variant False SEMA4C@p.Q298Afs*104 1 0.081 ENSG00000168758 chr2:96864775-96864775;G/GGGTGC frameshift_variant False SEMA4C@p.Y516Wfs*52 1 0.065 ENSG00000168758 chr2:96861791-96861791;T/TTCTGTTTTCATTCTCGTTTCCAGGAACCCACCCC frameshift_variant False SEMA4F@p.R346Lfs*11 1 0.038 ENSG00000135622 chr2:74674922-74674922;C/CTGTCT frameshift_variant False SEMA5B@p.L100P 1 0.288 ENSG00000082684 chr3:122948535-122948535;A/G missense_variant False SEMA5B@p.P429L 1 0.234 ENSG00000082684 chr3:122922434-122922434;G/A missense_variant False SEMA6C@p.P535Hfs*19 1 0.155 ENSG00000143434 chr1:151134852-151134852;G/GAAGATGGGGGGAAAGAGAAGCTTCATGAAGAACTGAT frameshift_variant False SENP8@p.V127A 1 0.333 ENSG00000166192 chr15:72140003-72140003;T/C missense_variant False SEPSECS@p.A162P 1 1.0 ENSG00000109618 chr4:25156100-25156100;C/G missense_variant False SEPTIN11@p.G53A 1 0.324 ENSG00000138758 chr4:77005616-77005616;G/C missense_variant False SEPTIN1@p.S91I 1 0.75 ENSG00000180096 chr16:30382143-30382143;C/A missense_variant False SEPTIN3@p.M554I 1 0.081 ENSG00000100167 chr22:41981802-41981802;G/A missense_variant False SEPTIN3@p.M554K 1 0.081 ENSG00000100167 chr22:41981801-41981801;T/A missense_variant False SEPTIN3@p.P735H 1 0.556 ENSG00000100167 chr22:41991613-41991613;C/A missense_variant False SEPTIN4@p.D848N 1 0.407 ENSG00000108387 chr17:58521574-58521574;C/T missense_variant False SEPTIN4@p.H285Q 1 0.048 ENSG00000108387 chr17:58543332-58543332;G/C missense_variant False SERPINA1@p.T363P 1 0.139 ENSG00000197249 chr14:94378619-94378619;T/G missense_variant False SERPINB12@p.T368N 1 0.124 ENSG00000166634 chr18:63566836-63566836;C/A missense_variant False SERPINE2@p.N104Y 1 0.072 ENSG00000135919 chr2:223998292-223998292;T/A missense_variant False SERPINH1@p.K250_Q254dup 1 0.062 ENSG00000149257 chr11:75568962-75568962;G/GAGAAGGAAAAGCTGC inframe_insertion False SERTAD4@p.V206Mfs*42 1 0.535 ENSG00000082497 chr1:210241875-210241875;CCTTT/C frameshift_variant False SESN3@p.A52Efs*16 1 0.152 ENSG00000149212 chr11:95191591-95191591;G/GGACCATCCATGCGCAACATGTAAAACTGGCT frameshift_variant False SELE@p.Y70H 1 0.475 ENSG00000007908 chr1:169732828-169732828;A/G missense_variant False SEC24D@p.P265R 1 0.367 ENSG00000150961 chr4:118815035-118815035;G/C missense_variant False SETBP1@p.E88Q 1 0.054 ENSG00000152217 chr18:44701608-44701608;G/C missense_variant True SEC24B@p.P202Lfs*59 1 0.222 ENSG00000138802 chr4:109463370-109463370;GC/G frameshift_variant False SAGE1@p.G565C 1 0.112 ENSG00000181433 chrX:135909749-135909749;G/T missense_variant False SALL2@p.G865D 1 0.091 ENSG00000165821 chr14:21523128-21523128;C/T missense_variant False SALL3@p.G1077V 1 0.215 ENSG00000256463 chr18:78995221-78995221;G/T missense_variant False SALL4@p.C387Ifs*60 1 0.025 ENSG00000101115 chr20:51791324-51791324;A/ACATGCAGTGGGAGGACAGCCAGGGAAGATGAT frameshift_variant False SALL4@p.T420S 1 0.086 ENSG00000101115 chr20:51791225-51791225;T/A missense_variant False SAMD15@p.S367L 1 0.207 ENSG00000100583 chr14:77378518-77378518;C/T missense_variant False SAMD3@p.P153T 1 0.085 ENSG00000164483 chr6:130184550-130184550;G/T missense_variant False SAMHD1@p.K492_L493insWWCVPVVPATQEAV 1 0.667 ENSG00000101347 chr20:36904183-36904183;G/GCACAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCA inframe_insertion False MMP24@p.P426S 1 1.0 ENSG00000125966 chr20:35269841-35269841;C/T missense_variant False SBF2@p.N665_Q666insANLMVNLLVP 1 0.096 ENSG00000133812 chr11:9858330-9858330;G/GTGGAACTAGCAGGTTCACCATGAGGTTTGC inframe_insertion False SCAF4@p.G841Efs*47 1 0.5 ENSG00000156304 chr21:31672321-31672321;C/CAACGGTTTTGTTACCACCTGCCCTGTCTGTCACCT frameshift_variant False SCAF8@p.P694S 1 0.073 ENSG00000213079 chr6:154827180-154827180;C/T missense_variant False SCAP@p.G968Afs*33 1 0.429 ENSG00000114650 chr3:47417371-47417371;C/CACTGCAAGCTCCG frameshift_variant False SCART1@p.T506S 1 0.531 ENSG00000214279 chr10:133459718-133459718;C/G missense_variant False SCML4@p.P127T 1 0.273 ENSG00000146285 chr6:107746797-107746797;G/T missense_variant False SCN10A@p.G1927V 1 0.296 ENSG00000185313 chr3:38697440-38697440;C/A missense_variant False SCN1A@p.E328D 1 0.241 ENSG00000144285 chr2:166048930-166048930;C/A missense_variant False SCN8A@p.S1183T 1 0.308 ENSG00000196876 chr12:51770585-51770585;T/A missense_variant False SCP2@p.R105H 1 0.058 ENSG00000116171 chr1:52950869-52950869;G/A missense_variant False SCUBE3@p.T49Vfs*39 1 0.579 ENSG00000146197 chr6:35227638-35227638;C/CGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATG frameshift_variant False SCX@p.A198V 1 0.667 ENSG00000260428 chr8:144268129-144268129;C/T missense_variant False SDC3@p.P292S 1 0.129 ENSG00000162512 chr1:30874585-30874585;G/A missense_variant False SDK1@p.T839A 1 0.214 ENSG00000146555 chr7:4017265-4017265;A/G missense_variant False SDK1@p.V491I 1 0.235 ENSG00000146555 chr7:3967359-3967359;G/A missense_variant False SEC14L6@p.Q24L 1 0.333 ENSG00000214491 chr22:30538886-30538886;T/A missense_variant False SESTD1@p.S661R 1 0.429 ENSG00000187231 chr2:179110007-179110007;A/C missense_variant False SETD1A@p.H379R 1 0.14 ENSG00000099381 chr16:30964878-30964878;A/G missense_variant False SLC16A3@p.M91I 1 0.188 ENSG00000141526 chr17:82236778-82236778;G/T missense_variant False SIAH2@p.G61Afs*17 1 0.2 ENSG00000181788 chr3:150762668-150762668;C/CACCACGAG frameshift_variant False SIDT2@p.V288Lfs*11 1 0.75 ENSG00000149577 chr11:117184132-117184132;A/ACTTCCCCAGCAACAGCTTTTAT frameshift_variant False SIGLEC10@p.D240N 1 0.271 ENSG00000142512 chr19:51416346-51416346;C/T missense_variant False SIGLEC10@p.E660D 1 0.13 ENSG00000142512 chr19:51411213-51411213;C/G missense_variant False SIGLEC10@p.P631Q 1 0.27 ENSG00000142512 chr19:51411301-51411301;G/T missense_variant False SIGLEC10@p.T559M 1 0.12 ENSG00000142512 chr19:51414455-51414455;G/A missense_variant False SIGLEC16@p.E448K 1 0.174 ENSG00000161643 chr19:49972656-49972656;G/A missense_variant False SIGMAR1@p.S130A 1 0.038 ENSG00000147955 chr9:34637054-34637054;A/C missense_variant False SIK3@p.D968E 1 0.4 ENSG00000160584 chr11:116858543-116858543;G/T missense_variant False SIL1@p.S128F 1 0.205 ENSG00000120725 chr5:139042690-139042690;G/A missense_variant False SIPA1L1@p.H1743Pfs*60 1 0.629 ENSG00000197555 chr14:71739031-71739031;AAGCTCACCTTCAGGCGGAGGTGC/A frameshift_variant False SIPA1L2@p.G271Vfs*16 1 0.198 ENSG00000116991 chr1:232514528-232514528;C/CATGATGGAGAA frameshift_variant False SIPA1L2@p.P231_E232insMGKVRKSHGRLHV 1 0.343 ENSG00000116991 chr1:232514646-232514646;C/CCACATGCAAACGCCCATGGCTCTTCCTTACCTTTCCCAT inframe_insertion False SIRT1@p.A498V 1 0.094 ENSG00000096717 chr10:67912609-67912609;C/T missense_variant False SIX3@p.R201H 1 0.056 ENSG00000138083 chr2:44942706-44942706;G/A missense_variant False SKAP2@p.D94G 1 0.112 ENSG00000005020 chr7:26844056-26844056;T/C missense_variant False SKI@p.G116E 1 0.159 ENSG00000157933 chr1:2229113-2229113;G/A missense_variant False SKIV2L@p.E229Hfs*43 1 0.169 ENSG00000204351 chr6:31961280-31961280;A/ACCATGTTTCTGAAATCCAAAATCTGCCCCAGG frameshift_variant False SLAMF1@p.R90H 1 0.042 ENSG00000117090 chr1:160637337-160637337;C/T missense_variant False SLAMF6@p.T311K 1 0.094 ENSG00000162739 chr1:160487123-160487123;G/T missense_variant False SLBP@p.E64G 1 0.034 ENSG00000163950 chr4:1703686-1703686;T/C missense_variant False SLC12A1@p.I561V 1 0.333 ENSG00000074803 chr15:48247457-48247457;A/G missense_variant False SLC12A2@p.G281A 1 0.455 ENSG00000064651 chr5:128112899-128112899;G/C missense_variant False SLC13A5@p.F281Lfs*8 1 0.114 ENSG00000141485 chr17:6695938-6695938;A/ACTTCCCCCTCTCAGCGTGC frameshift_variant False SLC16A14@p.T240Sfs*54 1 0.098 ENSG00000163053 chr2:230046411-230046411;A/AACGCACCATATGTACATGCACTCTGAGCT frameshift_variant False SLC16A2@p.M313I 1 0.082 ENSG00000147100 chrX:74524722-74524722;G/C missense_variant False SIDT1@p.N90K 1 0.254 ENSG00000072858 chr3:113566467-113566467;C/G missense_variant False SI@p.P136T 1 0.254 ENSG00000090402 chr3:165068799-165068799;G/T missense_variant False SETD1A@p.P1269L 1 0.5 ENSG00000099381 chr16:30979592-30979592;C/T missense_variant False SI@p.K34R 1 0.25 ENSG00000090402 chr3:165075912-165075912;T/C missense_variant False SETD2@p.D2400N 1 0.15 ENSG00000181555 chr3:47042601-47042601;C/T missense_variant True SETD2@p.S551R 1 0.297 ENSG00000181555 chr3:47122985-47122985;T/G missense_variant True SETD4@p.D47N 1 0.244 ENSG00000185917 chr21:36057139-36057139;C/T missense_variant False SETD5@p.D1209_S1210insQSKSK 1 0.35 ENSG00000168137 chr3:9474578-9474578;C/CCAGAGCAAAAGCAAG inframe_insertion False SETD5@p.D1211Afs*24 1 0.35 ENSG00000168137 chr3:9474579-9474579;T/TCTGCAGGAGCTGGGCAAGGCAG frameshift_variant False SETDB2@p.C307G 1 0.875 ENSG00000136169 chr13:49480232-49480232;T/G missense_variant False SETX@p.D2534Gfs*25 1 0.108 ENSG00000107290 chr9:132264672-132264672;T/TGCTGTCCTCCTGCTCCAGTGTCCTCTTGTCC frameshift_variant False SEZ6L@p.E906G 1 0.255 ENSG00000100095 chr22:26365489-26365489;A/G missense_variant False SEZ6L@p.S443T 1 0.353 ENSG00000100095 chr22:26299149-26299149;G/C missense_variant False SF3B2@p.A539S 1 0.088 ENSG00000087365 chr11:66059995-66059995;G/T missense_variant False SF3B2@p.G801Ifs*12 1 0.056 ENSG00000087365 chr11:66068015-66068015;G/GATTTTCTCTGGCTCCT frameshift_variant False SFXN4@p.R17H 1 0.12 ENSG00000183605 chr10:119165598-119165598;C/T missense_variant False SFXN5@p.M105Afs*3 1 0.086 ENSG00000144040 chr2:73022539-73022539;ATG/A frameshift_variant False SGCZ@p.G40E 1 0.029 ENSG00000185053 chr8:14554847-14554847;C/T missense_variant False SGCZ@p.P102L 1 0.527 ENSG00000185053 chr8:14324134-14324134;G/A missense_variant False SGIP1@p.P286S 1 0.388 ENSG00000118473 chr1:66681910-66681910;C/T missense_variant False SGPL1@p.P14T 1 1.0 ENSG00000166224 chr10:70844485-70844485;C/A missense_variant False SGSM1@p.E593Q 1 0.182 ENSG00000167037 chr22:24893437-24893437;G/C missense_variant False SH2D3A@p.G347C 1 0.208 ENSG00000125731 chr19:6754674-6754674;C/A missense_variant False SH2D5@p.H87N 1 0.444 ENSG00000189410 chr1:20726051-20726051;G/T missense_variant False SH3BP1@p.Q234Lfs*10 1 0.111 ENSG00000100092 chr22:37644880-37644880;T/TCC frameshift_variant False SH3D19@p.V444I 1 0.5 ENSG00000109686 chr4:151174874-151174874;C/T missense_variant False SH3TC2@p.V414M 1 0.075 ENSG00000169247 chr5:149028492-149028492;C/T missense_variant False SH3YL1@p.A147_A148insY 1 0.019 ENSG00000035115 chr2:233193-233193;A/ATAC inframe_insertion False SHPK@p.R471T 1 0.078 ENSG00000197417 chr17:3610585-3610585;C/G missense_variant False SPC24@p.E115D 1 0.148 ENSG00000161888 chr19:11148078-11148078;C/G missense_variant False SPEG@p.E2919A 1 0.698 ENSG00000072195 chr2:219489774-219489774;A/C missense_variant False TMEM63C@p.R130C 1 0.6 ENSG00000165548 chr14:77231625-77231625;C/T missense_variant False TEAD3@p.V400A 1 0.4 ENSG00000007866 chr6:35475153-35475153;A/G missense_variant False TECTA@p.C675R 1 0.075 ENSG00000109927 chr11:121128000-121128000;T/C missense_variant False TECTA@p.V1382M 1 0.455 ENSG00000109927 chr11:121152919-121152919;G/A missense_variant False TEDC2@p.L64V 1 0.059 ENSG00000162062 chr16:2460687-2460687;C/G missense_variant False TENM1@p.G1669A 1 0.6 ENSG00000009694 chrX:124406445-124406445;C/G missense_variant False TENM1@p.G603C 1 0.1 ENSG00000009694 chrX:124645212-124645212;C/A missense_variant False TENM1@p.N1478Y 1 0.667 ENSG00000009694 chrX:124422290-124422290;T/A missense_variant False TENM2@p.A409P 1 0.714 ENSG00000145934 chr5:168047465-168047465;G/C missense_variant False TENM2@p.G1298D 1 0.063 ENSG00000145934 chr5:168215087-168215087;G/A missense_variant False TENM2@p.G1589Rfs*11 1 0.5 ENSG00000145934 chr5:168218650-168218650;T/TC frameshift_variant False TENM3@p.G1997S 1 0.875 ENSG00000218336 chr4:182792661-182792661;G/A missense_variant False TENM3@p.G1997_P1998insTSSNTICGTACLPS 1 0.875 ENSG00000218336 chr4:182792663-182792663;T/TACATCTTCGAATACGATATGTGGGACCGCCTGTCTGCCATCA inframe_insertion False TENM3@p.L324Hfs*29 1 0.051 ENSG00000218336 chr4:182628869-182628869;T/TTCACCGCATTATGGTGAAAATTGTA frameshift_variant False TENT4A@p.P277S 1 0.122 ENSG00000112941 chr5:6737622-6737622;C/T missense_variant False TERT@p.R185W 1 0.429 ENSG00000164362 chr5:1294333-1294333;G/A missense_variant False TESC@p.E26V 1 0.4 ENSG00000088992 chr12:117075322-117075322;T/A missense_variant False TESPA1@p.A192S 1 0.6 ENSG00000135426 chr12:54963823-54963823;C/A missense_variant False TESPA1@p.H512P 1 0.111 ENSG00000135426 chr12:54961200-54961200;T/G missense_variant False TET1@p.G226_L227insVRDQPGQHGENMS 1 0.177 ENSG00000138336 chr10:68573016-68573016;A/AGTTAGAGACCAGCCAGGGCAACATGGCGAAAACATGTCT inframe_insertion False TET1@p.L227Tfs*4 1 0.177 ENSG00000138336 chr10:68573015-68573015;G/GC frameshift_variant False TET1@p.Q535Vfs*21 1 0.188 ENSG00000138336 chr10:68573940-68573940;T/TGTGTGCTCCTTTTC frameshift_variant False TET1@p.V753L 1 0.061 ENSG00000138336 chr10:68644986-68644986;G/C missense_variant False TEX35@p.K113E 1 0.062 ENSG00000240021 chr1:178520432-178520432;A/G missense_variant False TFCP2@p.S449R 1 0.486 ENSG00000135457 chr12:51098848-51098848;G/T missense_variant False TFE3@p.T371S 1 0.333 ENSG00000068323 chrX:49033489-49033489;G/C missense_variant False TFEB@p.P449L 1 0.136 ENSG00000112561 chr6:41684684-41684684;G/A missense_variant False TECPR1@p.Q691L 1 0.176 ENSG00000205356 chr7:98231276-98231276;T/A missense_variant False TEAD1@p.A179V 1 1.0 ENSG00000187079 chr11:12881919-12881919;C/T missense_variant False TG@p.V1354L 1 0.029 ENSG00000042832 chr8:132911434-132911434;G/T missense_variant False TDRD6@p.Y975N 1 0.095 ENSG00000180113 chr6:46691051-46691051;T/A missense_variant False TATDN2@p.Y670Sfs*85 1 0.209 ENSG00000157014 chr3:10278325-10278325;T/TCCCA frameshift_variant False TBC1D14@p.L309Pfs*32 1 0.091 ENSG00000132405 chr4:6994263-6994263;C/CCCCTTTAGGCTGGGCACAGTGGCTCACGCCTGTA frameshift_variant False TBC1D22B@p.Y398S 1 1.0 ENSG00000065491 chr6:37316730-37316730;A/C missense_variant False TBC1D7@p.A57V 1 0.094 ENSG00000145979 chr6:13325117-13325117;G/A missense_variant False TBCCD1@p.H171Ifs*18 1 0.238 ENSG00000113838 chr3:186556758-186556758;A/ATG frameshift_variant False TBCD@p.D808E 1 0.063 ENSG00000141556 chr17:82926444-82926444;C/G missense_variant False TBCEL-TECTA@p.S225T 1 0.545 ENSG00000285509 chr11:121058353-121058353;T/A missense_variant False TBL2@p.Y174C 1 0.321 ENSG00000106638 chr7:73573397-73573397;T/C missense_variant False TBR1@p.L526Rfs*148 1 0.125 ENSG00000136535 chr2:161423754-161423754;C/CG frameshift_variant False TBR1@p.L526_Q527insRE 1 0.125 ENSG00000136535 chr2:161423755-161423755;T/TAAGAGA inframe_insertion False TBRG4@p.A515_T516insC 1 0.068 ENSG00000136270 chr7:45101847-45101847;G/GCAC inframe_insertion False TBRG4@p.V514_A515insSALLSR 1 0.113 ENSG00000136270 chr7:45101849-45101849;C/CCCTGCTCAACAAAGCAGA inframe_insertion False TBX15@p.V176Qfs*5 1 0.023 ENSG00000092607 chr1:118924813-118924813;C/CCCTG frameshift_variant False TBX20@p.K247E 1 0.176 ENSG00000164532 chr7:35240953-35240953;T/C missense_variant False TBX22@p.S99Y 1 0.75 ENSG00000122145 chrX:80023180-80023180;C/A missense_variant False TBX5@p.V89L 1 0.434 ENSG00000089225 chr12:114399610-114399610;C/G missense_variant False TBXT@p.G81D 1 0.372 ENSG00000164458 chr6:166166821-166166821;C/T missense_variant False TCF12@p.V443E 1 0.302 ENSG00000140262 chr15:57253329-57253329;T/A missense_variant False TCF4@p.D89E 1 0.181 ENSG00000196628 chr18:55461056-55461056;G/C missense_variant False TCHP@p.H276Sfs*3 1 0.292 ENSG00000139437 chr12:109908882-109908882;GAC/G frameshift_variant False TCN1@p.V198A 1 0.609 ENSG00000134827 chr11:59859231-59859231;A/G missense_variant False TCTN2@p.T269N 1 0.083 ENSG00000168778 chr12:123688092-123688092;C/A missense_variant False TDP2@p.F32L 1 0.135 ENSG00000111802 chr6:24666767-24666767;A/T missense_variant False TDRD15@p.K687Ifs*26 1 0.174 ENSG00000218819 chr2:21139526-21139526;AAAAACAAAGTTAATATTAAAAAAGTCATATCTGCCCT/A frameshift_variant False TDRD6@p.A1987V 1 0.049 ENSG00000180113 chr6:46694088-46694088;C/T missense_variant False TFRC@p.G69V 1 0.142 ENSG00000072274 chr3:196075191-196075191;C/A missense_variant False TG@p.V706I 1 0.554 ENSG00000042832 chr8:132887488-132887488;G/A missense_variant False TARBP1@p.V485G 1 0.296 ENSG00000059588 chr1:234460342-234460342;A/C missense_variant False TLR8@p.P264L 1 0.348 ENSG00000101916 chrX:12919831-12919831;C/T missense_variant False TMC5@p.P226S 1 0.586 ENSG00000103534 chr16:19440714-19440714;C/T missense_variant False TMCC2@p.G401D 1 1.0 ENSG00000133069 chr1:205269404-205269404;G/A missense_variant False TMEM102@p.E329K 1 0.353 ENSG00000181284 chr17:7436964-7436964;G/A missense_variant False TMEM106C@p.K119Qfs*8 1 0.014 ENSG00000134291 chr12:47965939-47965939;T/TA frameshift_variant False TMEM120A@p.A80T 1 0.091 ENSG00000189077 chr7:75992223-75992223;C/T missense_variant False TMEM121B@p.L409M 1 0.244 ENSG00000183307 chr22:17119903-17119903;G/T missense_variant False TMEM130@p.T110I 1 0.145 ENSG00000166448 chr7:98863157-98863157;G/A missense_variant False TMEM132A@p.S75Kfs*71 1 0.357 ENSG00000006118 chr11:60927326-60927326;A/AAGCATCCAGTCCTGGACTCAGATTCGAATCCTGGCTTT frameshift_variant False TMEM132C@p.V94M 1 0.455 ENSG00000181234 chr12:128414926-128414926;G/A missense_variant False TMEM132D@p.D902E 1 0.42 ENSG00000151952 chr12:129074469-129074469;A/T missense_variant False TMEM132D@p.F1017Qfs*15 1 0.018 ENSG00000151952 chr12:129074126-129074126;A/ACTTTCGGGGCTGACTG frameshift_variant False TMEM132D@p.L906F 1 0.244 ENSG00000151952 chr12:129074459-129074459;G/A missense_variant False TMEM132D@p.V299L 1 0.311 ENSG00000151952 chr12:129699883-129699883;C/G missense_variant False TMEM145@p.G321E 1 0.055 ENSG00000167619 chr19:42317770-42317770;G/A missense_variant False TMEM151B@p.S508Gfs*38 1 0.714 ENSG00000178233 chr6:44276346-44276346;TGTCCAGCCAGGCCAGCATGGGGGACGACGAGGACGACGACGAGGAGGAGGCC/T frameshift_variant False TMEM165@p.A284T 1 0.16 ENSG00000134851 chr4:55424595-55424595;G/A missense_variant False TMEM167A@p.C19G 1 0.132 ENSG00000174695 chr5:83065066-83065066;A/C missense_variant False TMEM200A@p.G376W 1 0.183 ENSG00000164484 chr6:130441548-130441548;G/T missense_variant False TMEM219@p.H184Rfs*2 1 0.145 ENSG00000149932 chr16:29968219-29968219;C/CG frameshift_variant False TMEM225@p.L119V 1 0.083 ENSG00000204300 chr11:123884183-123884183;G/C missense_variant False TMEM243@p.T45Dfs*28 1 0.024 ENSG00000135185 chr7:87198042-87198042;T/TC frameshift_variant False TMEM269@p.M129_A130insLSA 1 0.182 ENSG00000274386 chr1:42794516-42794516;G/GCTTTCAGCA inframe_insertion False TMEM52@p.L91V 1 0.485 ENSG00000178821 chr1:1918331-1918331;G/C missense_variant False TMEM63A@p.P725A 1 0.262 ENSG00000196187 chr1:225848911-225848911;G/C missense_variant False TMEM63C@p.D326V 1 0.135 ENSG00000165548 chr14:77240521-77240521;A/T missense_variant False TM4SF4@p.T3P 1 0.00978 ENSG00000169903 chr3:149474884-149474884;A/C missense_variant False TLR8@p.H740Q 1 0.381 ENSG00000101916 chrX:12921260-12921260;C/A missense_variant False TGM2@p.R240H 1 0.15 ENSG00000198959 chr20:38146857-38146857;C/T missense_variant False TLR8@p.A282V 1 0.071 ENSG00000101916 chrX:12919885-12919885;C/T missense_variant False TGM3@p.A673T 1 0.211 ENSG00000125780 chr20:2340516-2340516;G/A missense_variant False THADA@p.N93Ifs*3 1 0.333 ENSG00000115970 chr2:43590847-43590847;AT/A frameshift_variant False THADA@p.P94R 1 0.333 ENSG00000115970 chr2:43590845-43590845;G/C missense_variant False THAP2@p.T13_Y14insARLPRL 1 0.138 ENSG00000173451 chr12:71664548-71664548;C/CGCACGCCTGCCTCGATTG inframe_insertion False THAP2@p.Y14S 1 0.138 ENSG00000173451 chr12:71664550-71664550;A/C missense_variant False THAP9@p.F843Nfs*3 1 0.094 ENSG00000168152 chr4:82918738-82918738;T/TAA frameshift_variant False THBS1@p.A253D 1 0.233 ENSG00000137801 chr15:39584042-39584042;C/A missense_variant False THBS3@p.P328L 1 0.18 ENSG00000169231 chr1:155202376-155202376;G/A missense_variant False THOC6@p.H172L 1 0.909 ENSG00000131652 chr16:3026710-3026710;A/T missense_variant False THSD4@p.V112M 1 0.667 ENSG00000187720 chr15:71780608-71780608;G/A missense_variant False THSD7A@p.C635S 1 0.362 ENSG00000005108 chr7:11481902-11481902;A/T missense_variant False THSD7A@p.R687G 1 0.19 ENSG00000005108 chr7:11474527-11474527;G/C missense_variant False THSD7B@p.P261A 1 0.546 ENSG00000144229 chr2:137057061-137057061;C/G missense_variant False TIA1@p.G169D 1 0.058 ENSG00000116001 chr2:70216963-70216963;C/T missense_variant False TIAM1@p.E299Dfs*9 1 0.103 ENSG00000156299 chr21:31266076-31266076;T/TG frameshift_variant False TIE1@p.Q601L 1 0.6 ENSG00000066056 chr1:43312476-43312476;A/T missense_variant False TIGD2@p.D497E 1 0.068 ENSG00000180346 chr4:89114465-89114465;C/A missense_variant False TIMELESS@p.K696Nfs*27 1 0.286 ENSG00000111602 chr12:56423586-56423586;T/TCTTCACAATGCAA frameshift_variant False TIMM44@p.G43R 1 0.415 ENSG00000104980 chr19:7941116-7941116;C/T missense_variant False TIMM44@p.L316Qfs*2 1 0.4 ENSG00000104980 chr19:7932667-7932667;A/ACT frameshift_variant False TINF2@p.R13Mfs*64 1 0.446 ENSG00000092330 chr14:24242296-24242296;G/GGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCAT frameshift_variant False TJP3@p.P829Lfs*8 1 0.143 ENSG00000105289 chr19:3747956-3747956;C/CTGAG frameshift_variant False TKTL2@p.G249V 1 0.109 ENSG00000151005 chr4:163472989-163472989;C/A missense_variant False TLN1@p.N2036_A2037insC 1 0.056 ENSG00000137076 chr9:35704113-35704113;C/CACA inframe_insertion False TLR7@p.Q303Rfs*66 1 0.5 ENSG00000196664 chrX:12886413-12886413;T/TGAGACTCAAATACTATGAAAGAC frameshift_variant False TATDN2@p.F671Efs*22 1 0.205 ENSG00000157014 chr3:10278327-10278327;C/CGAGGTGGTATTGCAGGAGGAGGCCCTAAA frameshift_variant False TARBP1@p.H1166Y 1 0.818 ENSG00000059588 chr1:234420761-234420761;G/A missense_variant False SPEG@p.P848Afs*14 1 0.136 ENSG00000072195 chr2:219461982-219461982;C/CGCCCTCCCTCCCCTCTCCCCTCTCCTCCTCCT frameshift_variant False SRRM1@p.P371Q 1 0.054 ENSG00000133226 chr1:24654926-24654926;C/A missense_variant False SRRM2@p.K1850N 1 0.221 ENSG00000167978 chr16:2766078-2766078;G/T missense_variant False SRSF2@p.V18Sfs*59 1 0.174 ENSG00000161547 chr17:76737109-76737109;C/CTGTTGCCCTTAAATACGTAACT frameshift_variant True SRSF4@p.R409P 1 0.38 ENSG00000116350 chr1:29148669-29148669;C/G missense_variant False SRSF4@p.S228A 1 0.369 ENSG00000116350 chr1:29149213-29149213;A/C missense_variant False SSC4D@p.Q322Gfs*96 1 0.133 ENSG00000146700 chr7:76393877-76393877;CGGGAAGGCTG/C frameshift_variant False SSC5D@p.P926L 1 0.15 ENSG00000179954 chr19:55501193-55501193;C/T missense_variant False SSH2@p.E947Rfs*22 1 0.108 ENSG00000141298 chr17:29632356-29632356;T/TG frameshift_variant False SSH2@p.S860L 1 0.636 ENSG00000141298 chr17:29632615-29632615;G/A missense_variant False SSRP1@p.L5Gfs*12 1 0.035 ENSG00000149136 chr11:57335110-57335110;T/TCACCA frameshift_variant False SSTR3@p.G183R 1 0.367 ENSG00000278195 chr22:37207257-37207257;C/T missense_variant False SSTR3@p.V145M 1 0.328 ENSG00000278195 chr22:37207371-37207371;C/T missense_variant False SSU72P5@p.R34Lfs*7 1 0.072 None chr11:4233387-4233387;C/CTTTT frameshift_variant False SSX1@p.N82H 1 0.077 ENSG00000126752 chrX:48258595-48258595;A/C missense_variant False SSX1@p.R21K 1 0.2 ENSG00000126752 chrX:48257303-48257303;G/A missense_variant False SSX5@p.Y48Cfs*8 1 0.6 ENSG00000165583 chrX:48194779-48194779;CAT/C frameshift_variant False ST13@p.K230Nfs*9 1 0.241 ENSG00000100380 chr22:40830949-40830949;TTC/T frameshift_variant False ST3GAL5@p.S357Ffs*37 1 0.036 ENSG00000115525 chr2:85840333-85840333;G/GGTGTGCAAAAACAAACACTGACCTCAAAT frameshift_variant False ST8SIA2@p.R223W 1 0.118 ENSG00000140557 chr15:92444754-92444754;C/T missense_variant False ST8SIA3@p.E103K 1 0.25 ENSG00000177511 chr18:57356917-57356917;G/A missense_variant False ST8SIA4@p.I188M 1 0.429 ENSG00000113532 chr5:100856336-100856336;A/C missense_variant False STAB1@p.F2014Y 1 0.415 ENSG00000010327 chr3:52521493-52521493;T/A missense_variant False STAB2@p.R1143Q 1 0.215 ENSG00000136011 chr12:103695602-103695602;G/A missense_variant False STAC@p.E201Vfs*60 1 0.027 ENSG00000144681 chr3:36486163-36486163;G/GTTACTACAGCTCCCCCTTGCTCATTCATGAAC frameshift_variant False STAG1@p.R175H 1 0.139 ENSG00000118007 chr3:136521365-136521365;C/T missense_variant False STAG2@p.E311G 1 0.027 ENSG00000101972 chrX:124050224-124050224;A/G missense_variant True SRRM1@p.P371T 1 0.053 ENSG00000133226 chr1:24654925-24654925;C/A missense_variant False SRPX@p.G45E 1 0.107 ENSG00000101955 chrX:38178308-38178308;C/T missense_variant False STARD3NL@p.P5Q 1 0.077 ENSG00000010270 chr7:38207518-38207518;C/A missense_variant False SRP19@p.N59S 1 0.465 ENSG00000153037 chr5:112864515-112864515;A/G missense_variant False SPEM2@p.F206V 1 0.095 ENSG00000184560 chr17:7426607-7426607;T/G missense_variant False SPEN@p.L3471Q 1 0.056 ENSG00000065526 chr1:15937548-15937548;T/A missense_variant False SPG11@p.A1595V 1 0.04 ENSG00000104133 chr15:44589374-44589374;G/A missense_variant False SPHKAP@p.I833Mfs*24 1 0.063 ENSG00000153820 chr2:228018355-228018355;T/TGCCAGCATAGTAATCCAGC frameshift_variant False SPICE1@p.L722P 1 0.115 ENSG00000163611 chr3:113450494-113450494;A/G missense_variant False SPINT1@p.G257Pfs*57 1 0.147 ENSG00000166145 chr15:40853736-40853736;G/GCCAGCCTTCTTGGAGCCCCTTTCTGGGGCCCTAGGCCAACCAAT frameshift_variant False SPINT3@p.F53L 1 0.053 ENSG00000101446 chr20:45512764-45512764;A/G missense_variant False SPOCK3@p.D258V 1 0.56 ENSG00000196104 chr4:166754666-166754666;T/A missense_variant False SPTA1@p.D1142E 1 0.474 ENSG00000163554 chr1:158651418-158651418;A/T missense_variant False SPTAN1@p.L1897Ifs*30 1 0.683 ENSG00000197694 chr9:128618957-128618957;C/CAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTT frameshift_variant False SPTAN1@p.T1896Afs*20 1 0.639 ENSG00000197694 chr9:128618955-128618955;G/GGC frameshift_variant False SPTB@p.D730E 1 0.833 ENSG00000070182 chr14:64793473-64793473;G/T missense_variant False SPTBN1@p.T2331S 1 0.13 ENSG00000115306 chr2:54668465-54668465;A/T missense_variant False SPTBN5@p.G74C 1 0.344 ENSG00000137877 chr15:41893058-41893058;C/A missense_variant False SPTLC3@p.L495P 1 0.301 ENSG00000172296 chr20:13160071-13160071;T/C missense_variant False SPTY2D1@p.S299P 1 0.347 ENSG00000179119 chr11:18615379-18615379;A/G missense_variant False SRA1@p.V18L 1 0.125 ENSG00000213523 chr5:140557437-140557437;C/G missense_variant False SRCAP@p.K1205T 1 0.111 ENSG00000080603 chr16:30722194-30722194;A/C missense_variant False SRCAP@p.P1450S 1 0.231 ENSG00000080603 chr16:30723772-30723772;C/T missense_variant False SRCAP@p.Q1698Hfs*149 1 0.491 ENSG00000080603 chr16:30724516-30724516;CAG/C frameshift_variant False SRCAP@p.Q848L 1 0.049 ENSG00000080603 chr16:30716115-30716115;A/T missense_variant False SRD5A2@p.A248Pfs*31 1 0.471 ENSG00000277893 chr2:31526222-31526222;TC/T frameshift_variant False SRD5A3@p.G192E 1 0.088 ENSG00000128039 chr4:55367600-55367600;G/A missense_variant False SREK1@p.S314L 1 0.667 ENSG00000153914 chr5:66164837-66164837;C/T missense_variant False SRGAP1@p.D119Gfs*13 1 0.101 ENSG00000196935 chr12:63990001-63990001;G/GGTTTAAAGCTGAGGGCCTGCCTAAGC frameshift_variant False STAP1@p.E140D 1 0.007509 ENSG00000035720 chr4:67581361-67581361;A/T missense_variant False STARD8@p.S425_S426insLAPCP 1 0.138 ENSG00000130052 chrX:68718187-68718187;T/TCCCTCGCTCCCTGTC inframe_insertion False TAPBPL@p.R337Pfs*117 1 0.456 ENSG00000139192 chr12:6458749-6458749;C/CCTCAGCCTCCTTGGACTGTGGCTTCTCCATGGCACCG frameshift_variant False SYNE1@p.M1049Cfs*9 1 0.5 ENSG00000131018 chr6:152451087-152451087;AT/A frameshift_variant False SYNE2@p.A5460T 1 0.3 ENSG00000054654 chr14:64163480-64163480;G/A missense_variant False SYNE2@p.E3143D 1 0.209 ENSG00000054654 chr14:64053342-64053342;A/C missense_variant False SYNE2@p.H1835Y 1 0.159 ENSG00000054654 chr14:64022007-64022007;C/T missense_variant False SYNGAP1@p.G388Wfs*31 1 0.096 ENSG00000197283 chr6:33438059-33438059;C/CG frameshift_variant False SYNM@p.D1157Pfs*13 1 0.097 ENSG00000182253 chr15:99131828-99131828;T/TCCTTGGATGTCCCAGCGCCCTCTCTGGAGGGG frameshift_variant False SYNM@p.E439Vfs*8 1 0.4 ENSG00000182253 chr15:99129673-99129673;C/CTGTCATTTTAA frameshift_variant False SYNM@p.N437_T438insACRWKRVMM 1 0.373 ENSG00000182253 chr15:99129671-99129671;T/TGCTTGTAGATGGAAAAGGGTAATGATG inframe_insertion False SYNPO2@p.S604Qfs*16 1 0.106 ENSG00000172403 chr4:119030580-119030580;C/CTTTTCAAGAAATA frameshift_variant False SYNPR@p.R86W 1 0.315 ENSG00000163630 chr3:63556589-63556589;C/T missense_variant False SYT17@p.H29L 1 0.278 ENSG00000103528 chr16:19173482-19173482;A/T missense_variant False SYT2@p.D119dup 1 0.052 ENSG00000143858 chr1:202603113-202603113;G/GTCA inframe_insertion False SYTL1@p.A44T 1 0.131 ENSG00000142765 chr1:27345464-27345464;G/A missense_variant False SYTL2@p.S380_D381insR 1 0.235 ENSG00000137501 chr11:85734188-85734188;C/CTCG inframe_insertion False SYTL5@p.V404L 1 0.593 ENSG00000147041 chrX:38106647-38106647;G/T missense_variant False SZT2@p.R2524H 1 0.585 ENSG00000198198 chr1:43441563-43441563;G/A missense_variant False TACC2@p.A2546S 1 0.084 ENSG00000138162 chr10:122226393-122226393;G/T missense_variant False TACR2@p.H137Y 1 0.375 ENSG00000075073 chr10:69415123-69415123;G/A missense_variant False TACR3@p.D46V 1 0.2 ENSG00000169836 chr4:103719539-103719539;T/A missense_variant False TACR3@p.P70A 1 0.25 ENSG00000169836 chr4:103719468-103719468;G/C missense_variant False TAF15@p.D205E 1 0.875 ENSG00000270647 chr17:35833916-35833916;C/G missense_variant False TAF1D@p.R54P 1 0.054 ENSG00000166012 chr11:93738407-93738407;C/G missense_variant False TAF1L@p.R725W 1 0.144 ENSG00000122728 chr9:32633407-32633407;G/A missense_variant False TAF3@p.F590L 1 0.824 ENSG00000165632 chr10:7965278-7965278;T/C missense_variant False TAF3@p.T343S 1 0.667 ENSG00000165632 chr10:7964537-7964537;A/T missense_variant False TANK@p.E105Q 1 0.167 ENSG00000136560 chr2:161204779-161204779;G/C missense_variant False SYNE2@p.A2990T 1 0.16 ENSG00000054654 chr14:64052881-64052881;G/A missense_variant False SYNE1@p.E4454K 1 0.177 ENSG00000131018 chr6:152331325-152331325;C/T missense_variant False STARD8@p.T424_S425insNQAH 1 0.138 ENSG00000130052 chrX:68718185-68718185;C/CAAACCAGGCACA inframe_insertion False SYNCRIP@p.T139A 1 0.034 ENSG00000271793 chr6:85637317-85637317;T/C missense_variant False STAT1@p.D151G 1 0.375 ENSG00000115415 chr2:191001084-191001084;T/C missense_variant False STBD1@p.P298T 1 0.287 ENSG00000118804 chr4:76309815-76309815;C/A missense_variant False STIL@p.M1124Tfs*22 1 0.048 ENSG00000123473 chr1:47251632-47251632;A/AAGAGCAAAACTCCGTCTCAAAAAAAAAAGTACAG frameshift_variant False STIL@p.Q931E 1 0.19 ENSG00000123473 chr1:47262941-47262941;G/C missense_variant False STON2@p.A176P 1 0.411 ENSG00000140022 chr14:81371033-81371033;C/G missense_variant False STT3B@p.V657F 1 0.652 ENSG00000163527 chr3:31626023-31626023;G/T missense_variant False STXBP5L@p.S954P 1 0.426 ENSG00000145087 chr3:121407515-121407515;T/C missense_variant False SUGP2@p.S460T 1 0.041 ENSG00000064607 chr19:19024969-19024969;C/G missense_variant False SUMF1@p.E130A 1 0.405 ENSG00000144455 chr3:4452931-4452931;T/G missense_variant False SUN5@p.F310Afs*45 1 0.148 ENSG00000167098 chr20:32985156-32985156;C/CGACAGAGCTTAACTTGAAGCAAGAAAGGCTTCTCATGTGCA frameshift_variant False SUPT6H@p.A1083V 1 0.068 ENSG00000109111 chr17:28689467-28689467;C/T missense_variant False SURF6@p.R29H 1 0.176 ENSG00000148296 chr9:133336047-133336047;C/T missense_variant False SUSD1@p.A46G 1 0.333 ENSG00000106868 chr9:112157580-112157580;G/C missense_variant False SUSD5@p.F542Lfs*11 1 0.5 ENSG00000173705 chr3:33153004-33153004;CCA/C frameshift_variant False SUV39H1@p.R292H 1 0.125 ENSG00000101945 chrX:48706311-48706311;G/A missense_variant False SV2B@p.G594Lfs*110 1 0.5 ENSG00000185518 chr15:91289591-91289591;C/CTTAGAGT frameshift_variant False SV2B@p.W595Dfs*26 1 0.545 ENSG00000185518 chr15:91289593-91289593;G/GTGACTTCAGAATCCTTCCTAAGT frameshift_variant False SV2C@p.L362F 1 0.184 ENSG00000122012 chr5:76285819-76285819;A/C missense_variant False SVOP@p.G533R 1 0.13 ENSG00000166111 chr12:108912585-108912585;C/T missense_variant False SVOPL@p.R266G 1 0.25 ENSG00000157703 chr7:138630116-138630116;T/C missense_variant False SYCP1@p.I456F 1 0.3 ENSG00000198765 chr1:114910442-114910442;A/T missense_variant False SYCP2@p.A591V 1 0.107 ENSG00000196074 chr20:59893163-59893163;G/A missense_variant False SYDE2@p.T435R 1 0.27 ENSG00000097096 chr1:85190194-85190194;G/C missense_variant False SYMPK@p.V420L 1 0.5 ENSG00000125755 chr19:45835213-45835213;C/A missense_variant False SYN2@p.K381E 1 0.049 ENSG00000157152 chr3:12168461-12168461;A/G missense_variant False MMRN1@p.I878M 1 0.276 ENSG00000138722 chr4:89936314-89936314;T/G missense_variant False MIS18BP1@p.Q384E 1 0.353 ENSG00000129534 chr14:45237715-45237715;G/C missense_variant False MMP10@p.D437A 1 0.163 ENSG00000166670 chr11:102772032-102772032;T/G missense_variant False CHRDL1@p.G360V 1 0.015 ENSG00000101938 chrX:110681559-110681559;C/A missense_variant False CHRNA5@p.P163S 1 0.093 ENSG00000169684 chr15:78589878-78589878;C/T missense_variant False CHRNA9@p.P163T 1 0.24 ENSG00000174343 chr4:40349003-40349003;C/A missense_variant False CHRNE@p.P211L 1 0.379 ENSG00000108556 chr17:4901160-4901160;G/A missense_variant False CHST12@p.L261Qfs*138 1 0.222 ENSG00000136213 chr7:2433420-2433420;C/CAGAGAAGGGCATG frameshift_variant False CHSY3@p.V264L 1 0.104 ENSG00000198108 chr5:129905619-129905619;G/C missense_variant False CIB1@p.C74F 1 0.107 ENSG00000185043 chr15:90231482-90231482;C/A missense_variant False CILK1@p.P269S 1 0.536 ENSG00000112144 chr6:53016109-53016109;G/A missense_variant False CILP@p.P1151S 1 0.083 ENSG00000138615 chr15:65196835-65196835;G/A missense_variant False CIT@p.F388Lfs*17 1 0.443 ENSG00000122966 chr12:119803336-119803336;CA/C frameshift_variant False CLCA2@p.I218N 1 0.383 ENSG00000137975 chr1:86432437-86432437;T/A missense_variant False CLCN2@p.D816Tfs*33 1 0.643 ENSG00000114859 chr3:184346991-184346991;C/CTTCCGGAGCTGGAAAGGTGAGAGGGACAGATGTCTGGACCCAGATGT frameshift_variant False CLCN6@p.I653N 1 0.259 ENSG00000011021 chr1:11836131-11836131;T/A missense_variant False CLDN14@p.S14I 1 0.094 ENSG00000159261 chr21:36461655-36461655;C/A missense_variant False CLDN24@p.L71Q 1 0.139 ENSG00000185758 chr4:183322215-183322215;A/T missense_variant False CLDN25@p.M199Hfs*27 1 0.135 ENSG00000228607 chr11:113780389-113780389;G/GC frameshift_variant False CLDN25@p.M199Kfs*36 1 0.141 ENSG00000228607 chr11:113780390-113780390;A/AAAAGTCCAGCTCGGGGGGCTACTTCTCTCCCTCCT frameshift_variant False CLEC14A@p.F269_A270insTPLRS 1 0.077 ENSG00000176435 chr14:38255215-38255215;C/CGCTCCTCAGTGGAGT inframe_insertion False CLEC17A@p.F261Sfs*60 1 0.086 ENSG00000187912 chr19:14600069-14600069;T/TCCTCCTCTGAGCCA frameshift_variant False CLEC17A@p.F261_E262insL 1 0.086 ENSG00000187912 chr19:14600071-14600071;T/TCTC inframe_insertion False CLEC17A@p.G163D 1 0.206 ENSG00000187912 chr19:14596918-14596918;G/A missense_variant False CLECL1@p.C77Y 1 0.035 None chr12:9733035-9733035;C/T missense_variant False CLGN@p.G595E 1 0.303 ENSG00000153132 chr4:140389273-140389273;C/T missense_variant False CLIC1@p.E82K 1 0.058 ENSG00000213719 chr6:31733867-31733867;C/T missense_variant False CLIC6@p.G460S 1 0.113 ENSG00000159212 chr21:34707283-34707283;G/A missense_variant False CLMN@p.D487G 1 0.131 ENSG00000165959 chr14:95203889-95203889;T/C missense_variant False CHRM5@p.T466A 1 0.125 ENSG00000184984 chr15:34064113-34064113;A/G missense_variant False CHGB@p.L188I 1 0.273 ENSG00000089199 chr20:5922706-5922706;C/A missense_variant False CLRN3@p.C25F 1 0.154 ENSG00000180745 chr10:127892711-127892711;C/A missense_variant False CHEK1@p.V12M 1 0.386 ENSG00000149554 chr11:125626802-125626802;G/A missense_variant False CFAP45@p.V168_A169insRGKVNIRT 1 0.182 ENSG00000213085 chr1:159887925-159887925;C/CGTTCTTATATTTACCTTTCCCCTT inframe_insertion False CFAP46@p.Q2139H 1 0.263 ENSG00000171811 chr10:132846078-132846078;C/G missense_variant False CFAP47@p.S799L 1 0.097 ENSG00000165164 chrX:35975288-35975288;C/T missense_variant False CFAP47@p.V1766A 1 0.136 ENSG00000165164 chrX:36104668-36104668;T/C missense_variant False CFAP54@p.E1649D 1 0.284 ENSG00000188596 chr12:96651662-96651662;A/C missense_variant False CFAP57@p.D961N 1 0.049 ENSG00000243710 chr1:43226998-43226998;G/A missense_variant False CFAP65@p.C341Y 1 0.181 ENSG00000181378 chr2:219030828-219030828;C/T missense_variant False CFAP73@p.L247Vfs*20 1 0.556 ENSG00000186710 chr12:113155307-113155307;G/GGTGAAACCCTGTCT frameshift_variant False CFAP99@p.L95Afs*58 1 0.833 ENSG00000206113 chr4:2438095-2438095;G/GGCAGGGCGACCATTGCAAGC frameshift_variant False CFAP99@p.L95Q 1 0.833 ENSG00000206113 chr4:2438097-2438097;T/A missense_variant False CFH@p.S449F 1 0.214 ENSG00000000971 chr1:196713744-196713744;C/T missense_variant False CFI@p.K552N 1 0.259 ENSG00000205403 chr4:109740989-109740989;T/A missense_variant False CGN@p.L946M 1 0.128 ENSG00000143375 chr1:151534068-151534068;C/A missense_variant False CGN@p.Q528Pfs*68 1 0.15 ENSG00000143375 chr1:151524854-151524854;C/CCCCCCATTCCAGATTGTTCACAAGCATATCATGAGAT frameshift_variant False CGN@p.T247Pfs*22 1 0.059 ENSG00000143375 chr1:151519257-151519257;C/CCCTGAGAACCCCT frameshift_variant False CGNL1@p.A963Lfs*17 1 0.078 ENSG00000128849 chr15:57524598-57524598;G/GCTTCAGA frameshift_variant False CHAF1A@p.F634Sfs*22 1 0.355 ENSG00000167670 chr19:4430594-4430594;T/TCTTCCAGCTTCTCTCGAAAAATCTCATCTGGTGACAC frameshift_variant False CHAMP1@p.H85R 1 0.086 ENSG00000198824 chr13:114324096-114324096;A/G missense_variant False CHD1L@p.K773E 1 0.096 ENSG00000131778 chr1:147287730-147287730;A/G missense_variant False CHD2@p.K1557* 1 0.667 ENSG00000173575 chr15:93012419-93012419;A/AC frameshift_variant False CHD3@p.H856L 1 0.231 ENSG00000170004 chr17:7899918-7899918;A/T missense_variant False CHD4@p.E1315K 1 0.138 ENSG00000111642 chr12:6583315-6583315;C/T missense_variant False CHD5@p.G353E 1 0.088 ENSG00000116254 chr1:6149349-6149349;C/T missense_variant False CHD8@p.V1538_K1539insHHAVPLGSLPHFCST 1 0.018 ENSG00000100888 chr14:21400263-21400263;T/TAGTCGAGCAAAAGTGCGGAAGCGATCCCAATGGAACTGCATGGTG inframe_insertion False CHD9@p.V2552A 1 0.189 ENSG00000177200 chr16:53318282-53318282;T/C missense_variant False CLPB@p.G53R 1 0.176 ENSG00000162129 chr11:72434318-72434318;C/G missense_variant False CLSTN3@p.R822C 1 0.444 ENSG00000139182 chr12:7151000-7151000;C/T missense_variant False CFAP45@p.A391Tfs*36 1 0.019 ENSG00000213085 chr1:159876737-159876737;C/CAGAAGCCGCTCCGCTCGAGAGT frameshift_variant False CNTRL@p.K855R 1 0.7 ENSG00000119397 chr9:121141461-121141461;A/G missense_variant False COBL@p.G307V 1 0.742 ENSG00000106078 chr7:51136195-51136195;C/A missense_variant False COBL@p.L582Tfs*13 1 0.128 ENSG00000106078 chr7:51029356-51029356;C/CGCGGCCTCGTTGGTGCCATGATGTTGGT frameshift_variant False COBL@p.P147L 1 0.158 ENSG00000106078 chr7:51193395-51193395;G/A missense_variant False COCH@p.F389Cfs*9 1 0.103 ENSG00000100473 chr14:30885999-30885999;ATT/A frameshift_variant False COG1@p.L532_L533insWSESPND 1 0.6 ENSG00000166685 chr17:73201422-73201422;T/TCTGGTCTGAGAGTCCTAATGA inframe_insertion False COL10A1@p.L35Q 1 0.047 ENSG00000123500 chr6:116125389-116125389;A/T missense_variant False COL11A1@p.K1470Rfs*3 1 1.0 ENSG00000060718 chr1:102889510-102889510;T/TC frameshift_variant False COL11A2@p.R1513Q 1 0.44 ENSG00000204248 chr6:33165761-33165761;C/T missense_variant False COL12A1@p.D2847H 1 0.5 ENSG00000111799 chr6:75097291-75097291;C/G missense_variant False COL12A1@p.T1817Ifs*31 1 0.75 ENSG00000111799 chr6:75134800-75134800;G/GAACAATCAAGCACACATGAAACACAGATTCACTGA frameshift_variant False COL15A1@p.I118Afs*64 1 0.038 ENSG00000204291 chr9:98985815-98985815;C/CGCCGCAGGGAGGAGACCTGAAGACCAGAGGA frameshift_variant False COL16A1@p.G407R 1 0.529 ENSG00000084636 chr1:31692043-31692043;C/T missense_variant False COL16A1@p.L597Q 1 0.222 ENSG00000084636 chr1:31688480-31688480;A/T missense_variant False COL1A1@p.A160V 1 0.158 ENSG00000108821 chr17:50198497-50198497;G/A missense_variant False COL1A1@p.D1413H 1 0.016 ENSG00000108821 chr17:50185789-50185789;C/G missense_variant False COL1A1@p.E1128K 1 0.125 ENSG00000108821 chr17:50187525-50187525;C/T missense_variant False COL1A1@p.E615Rfs*19 1 0.043 ENSG00000108821 chr17:50192830-50192830;T/TC frameshift_variant False COL20A1@p.K854R 1 0.068 ENSG00000101203 chr20:63316589-63316589;A/G missense_variant False COL24A1@p.P1636S 1 0.087 ENSG00000171502 chr1:85734841-85734841;G/A missense_variant False COL25A1@p.Q324E 1 0.727 ENSG00000188517 chr4:108889226-108889226;G/C missense_variant False COL27A1@p.G832S 1 0.231 ENSG00000196739 chr9:114231106-114231106;G/A missense_variant False COL27A1@p.R1803W 1 0.088 ENSG00000196739 chr9:114309449-114309449;C/T missense_variant False COL4A1@p.T1140I 1 0.097 ENSG00000187498 chr13:110173986-110173986;G/A missense_variant False COL4A2@p.H1701R 1 0.2 ENSG00000134871 chr13:110512154-110512154;A/G missense_variant False COL4A2@p.V1445_S1446insDLGEWRASY 1 0.385 ENSG00000134871 chr13:110504197-110504197;G/GGACCTTGGGGAATGGAGAGCTTCATAT inframe_insertion False COA1@p.V51E 1 0.143 ENSG00000106603 chr7:43645363-43645363;A/T missense_variant False CNTRL@p.H77D 1 0.273 ENSG00000119397 chr9:121090286-121090286;C/G missense_variant False CLTCL1@p.V1071I 1 0.275 ENSG00000070371 chr22:19210364-19210364;C/T missense_variant False CNTNAP4@p.P616dup 1 0.426 ENSG00000152910 chr16:76479504-76479504;C/CCCA inframe_insertion False CLUH@p.D472H 1 0.226 ENSG00000132361 chr17:2698443-2698443;C/G missense_variant False CLYBL@p.L25V 1 0.103 ENSG00000125246 chr13:99772834-99772834;C/G missense_variant False CMIP@p.A329V 1 0.088 ENSG00000153815 chr16:81672022-81672022;C/T missense_variant False CMYA5@p.C3516R 1 0.313 ENSG00000164309 chr5:79739311-79739311;T/C missense_variant False CMYA5@p.L1703M 1 0.19 ENSG00000164309 chr5:79733872-79733872;T/A missense_variant False CNGA3@p.D452H 1 0.355 ENSG00000144191 chr2:98396524-98396524;G/C missense_variant False CNGA3@p.S401C 1 0.1 ENSG00000144191 chr2:98396372-98396372;C/G missense_variant False CNGB1@p.N96Tfs*11 1 0.778 ENSG00000070729 chr16:57964133-57964133;T/TGTACCACTGGCCCAAGGCCAGTCCAGTG frameshift_variant False CNNM1@p.H322Y 1 0.6 ENSG00000119946 chr10:99330351-99330351;C/T missense_variant False CNNM2@p.K395N 1 0.082 ENSG00000148842 chr10:102919665-102919665;G/C missense_variant False CNNM2@p.L396V 1 0.082 ENSG00000148842 chr10:102919666-102919666;C/G missense_variant False CNOT1@p.R900L 1 0.047 ENSG00000125107 chr16:58555443-58555443;C/A missense_variant False CNOT1@p.V463F 1 0.213 ENSG00000125107 chr16:58578896-58578896;C/A missense_variant False CNOT2@p.V455I 1 0.105 ENSG00000111596 chr12:70344200-70344200;G/A missense_variant False CNR2@p.H217L 1 0.929 ENSG00000188822 chr1:23874968-23874968;T/A missense_variant False CNST@p.L599V 1 0.235 ENSG00000162852 chr1:246647996-246647996;C/G missense_variant False CNTN1@p.N559K 1 0.06 ENSG00000018236 chr12:40944164-40944164;T/A missense_variant False CNTN2@p.D933G 1 1.0 ENSG00000184144 chr1:205072549-205072549;A/G missense_variant False CNTN6@p.L105R 1 0.39 ENSG00000134115 chr3:1227949-1227949;T/G missense_variant False CNTNAP2@p.K1326N 1 0.105 ENSG00000174469 chr7:148415598-148415598;A/C missense_variant False CNTNAP2@p.K750N 1 0.158 ENSG00000174469 chr7:147903716-147903716;G/T missense_variant False CNTNAP2@p.Q751K 1 0.158 ENSG00000174469 chr7:147903717-147903717;C/A missense_variant False CNTNAP2@p.T914P 1 0.239 ENSG00000174469 chr7:148147676-148147676;A/C missense_variant False CNTNAP3@p.A1224Rfs*9 1 0.167 ENSG00000283378 chr9:39078694-39078694;G/GC frameshift_variant False CNTNAP3B@p.T579R 1 0.464 ENSG00000154529 chr9:41964558-41964558;G/C missense_variant False CFAP45@p.R519G 1 0.08 ENSG00000213085 chr1:159872966-159872966;T/C missense_variant False CFAP43@p.T1553P 1 0.688 ENSG00000197748 chr10:104132136-104132136;T/G missense_variant False COL4A4@p.R1677C 1 0.433 ENSG00000081052 chr2:227007369-227007369;G/A missense_variant False CCN3@p.Q310Yfs*17 1 0.056 ENSG00000136999 chr8:119422983-119422983;A/ATTTATAAAGAAAAGATG frameshift_variant False CCNB3@p.K295M 1 0.177 ENSG00000147082 chrX:50309053-50309053;A/T missense_variant False CCNE1@p.S248C 1 0.1 ENSG00000105173 chr19:29822033-29822033;C/G missense_variant False CCNI2@p.T313Nfs*24 1 0.5 ENSG00000205089 chr5:132752126-132752126;T/TAAATATCTGTCTGCTTTTGCTA frameshift_variant False CCR9@p.L332Ffs*45 1 0.492 ENSG00000173585 chr3:45901780-45901780;C/CATTT frameshift_variant False CCR9@p.L332_K333insPPLYWLVFIV 1 0.492 ENSG00000173585 chr3:45901782-45901782;C/CTCCCACCCTTGTACTGGCTCGTGTTCATCG inframe_insertion False CCSER1@p.R537W 1 0.571 ENSG00000184305 chr4:90468239-90468239;C/T missense_variant False CCT7@p.K77_T78del 1 0.347 ENSG00000135624 chr2:73240504-73240504;AAAGACT/A inframe_deletion False CD14@p.K127N 1 0.456 ENSG00000170458 chr5:140632603-140632603;C/A missense_variant False CD163@p.T41A 1 0.089 ENSG00000177575 chr12:7502490-7502490;T/C missense_variant False CD180@p.N553T 1 0.222 ENSG00000134061 chr5:67183185-67183185;T/G missense_variant False CD19@p.C303S 1 0.142 ENSG00000177455 chr16:28935515-28935515;T/A missense_variant False CD1A@p.G117Rfs*4 1 0.111 ENSG00000158477 chr1:158256025-158256025;C/CG frameshift_variant False CD1A@p.I187F 1 0.045 ENSG00000158477 chr1:158256237-158256237;A/T missense_variant False CD1B@p.N75K 1 0.182 ENSG00000158485 chr1:158330899-158330899;G/T missense_variant False CD1E@p.L339H 1 0.077 ENSG00000158488 chr1:158356745-158356745;T/A missense_variant False CD200R1@p.G26C 1 0.184 ENSG00000163606 chr3:112947916-112947916;C/A missense_variant False CD22@p.M354L 1 0.107 ENSG00000012124 chr19:35338242-35338242;A/T missense_variant False CD33@p.P184H 1 0.098 ENSG00000105383 chr19:51225935-51225935;C/A missense_variant False CD37@p.R112Q 1 0.175 ENSG00000104894 chr19:49337214-49337214;G/A missense_variant False CD4@p.A357T 1 0.056 ENSG00000010610 chr12:6817243-6817243;G/A missense_variant False CD4@p.A357_V358insAY 1 0.056 ENSG00000010610 chr12:6817245-6817245;G/GGCATAC inframe_insertion False CD5@p.P145R 1 0.32 ENSG00000110448 chr11:61118948-61118948;C/G missense_variant False CD72@p.E202Q 1 0.044 ENSG00000137101 chr9:35616027-35616027;C/G missense_variant False CD83@p.T36N 1 0.01 ENSG00000112149 chr6:14118019-14118019;C/A missense_variant False CD8B@p.S40Lfs*12 1 0.106 ENSG00000172116 chr2:86858342-86858342;A/AATAATAAATAAATAAAAAAGAG frameshift_variant False CCN3@p.V163Afs*34 1 0.078 ENSG00000136999 chr8:119418234-119418234;G/GCT frameshift_variant False CCN3@p.P164Ffs*36 1 0.06 ENSG00000136999 chr8:119418236-119418236;G/GTTTTTCCTCTT frameshift_variant False CDC14C@p.S401I 1 0.429 ENSG00000218305 chr7:48925874-48925874;G/T missense_variant False CCKAR@p.S136T 1 0.073 ENSG00000163394 chr4:26485857-26485857;A/T missense_variant False CCDC112@p.G503R 1 0.8 ENSG00000164221 chr5:115268922-115268922;C/T missense_variant False CCDC138@p.G62V 1 0.4 ENSG00000163006 chr2:108788885-108788885;G/T missense_variant False CCDC141@p.R122S 1 0.18 ENSG00000163492 chr2:178978535-178978535;T/A missense_variant False CCDC144A@p.L1338I 1 0.075 ENSG00000266302 chr17:16764089-16764089;C/A missense_variant False CCDC144A@p.R564G 1 0.254 ENSG00000266302 chr17:16711790-16711790;A/G missense_variant False CCDC151@p.E271Q 1 0.568 None chr19:11426475-11426475;C/G missense_variant False CCDC15@p.L73_Q77del 1 0.385 ENSG00000149548 chr11:124959153-124959153;GCTAAGAAAAAAACAA/G inframe_deletion False CCDC168@p.P2661S 1 0.237 ENSG00000175820 chr13:102742716-102742716;G/A missense_variant False CCDC168@p.S4528P 1 0.102 ENSG00000175820 chr13:102737115-102737115;A/G missense_variant False CCDC174@p.N261K 1 0.6 ENSG00000154781 chr3:14667482-14667482;C/A missense_variant False CCDC178@p.R703M 1 0.125 ENSG00000166960 chr18:33212026-33212026;C/A missense_variant False CCDC17@p.R426W 1 0.541 ENSG00000159588 chr1:45621393-45621393;G/A missense_variant False CCDC181@p.T330Dfs*44 1 0.714 ENSG00000117477 chr1:169421444-169421444;C/CT frameshift_variant False CCDC33@p.E290D 1 0.412 ENSG00000140481 chr15:74280073-74280073;G/C missense_variant False CCDC58@p.R133H 1 0.625 None chr3:122359906-122359906;C/T missense_variant False CCDC60@p.R309Lfs*9 1 0.08 ENSG00000183273 chr12:119516663-119516663;G/GTTATTGAAGAA frameshift_variant False CCDC62@p.M117_A118insT 1 0.061 ENSG00000130783 chr12:122781285-122781285;G/GACT inframe_insertion False CCDC62@p.Q119Lfs*21 1 0.063 ENSG00000130783 chr12:122781287-122781287;C/CACTCCATCCTGGGCGACAGAGCGAGACTCCG frameshift_variant False CCDC73@p.I963F 1 0.115 ENSG00000186714 chr11:32613431-32613431;T/A missense_variant False CCDC77@p.Y363Ffs*22 1 0.4 ENSG00000120647 chr12:440662-440662;T/TTCCCTCACTTACACCTCTTCTCTCCCTCGTGGCAATTCAGG frameshift_variant False CCDC88A@p.D338G 1 0.2 ENSG00000115355 chr2:55346203-55346203;T/C missense_variant False CCDC8@p.R266S 1 0.455 ENSG00000169515 chr19:46412013-46412013;C/G missense_variant False CCDC96@p.E153G 1 0.389 ENSG00000173013 chr4:7042481-7042481;T/C missense_variant False CCDC9@p.R344H 1 0.444 ENSG00000105321 chr19:47270634-47270634;G/A missense_variant False CCKAR@p.S136F 1 0.073 ENSG00000163394 chr4:26485856-26485856;G/A missense_variant False CDAN1@p.L659Gfs*94 1 0.111 ENSG00000140326 chr15:42730957-42730957;G/GAGTAGCAGCAGCTTGTTCAGGAAACACATCTTCCC frameshift_variant False CDC37@p.V152M 1 0.031 ENSG00000105401 chr19:10395468-10395468;C/T missense_variant False CFAP299@p.H122L 1 0.273 ENSG00000197826 chr4:80870024-80870024;A/T missense_variant False CELA3A@p.R179W 1 0.32 ENSG00000142789 chr1:22007408-22007408;C/T missense_variant False CELSR2@p.L590_T591insSVEDD 1 0.116 ENSG00000143126 chr1:109251848-109251848;T/TTTCTGTGGAGGATGA inframe_insertion False CELSR2@p.N2120S 1 0.7 ENSG00000143126 chr1:109268621-109268621;A/G missense_variant False CELSR2@p.R2233Q 1 0.169 ENSG00000143126 chr1:109269176-109269176;G/A missense_variant False CEMIP@p.M501I 1 0.091 ENSG00000103888 chr15:80906754-80906754;G/A missense_variant False CENPE@p.T1685_K1686insGVVVGACSP 1 0.222 ENSG00000138778 chr4:103144420-103144420;T/TGGGACTACAGGCGCCCACCACCACGCC inframe_insertion False CEP104@p.T600Kfs*12 1 0.055 ENSG00000116198 chr1:3831083-3831083;G/GTT frameshift_variant False CEP104@p.T600Sfs*18 1 0.055 ENSG00000116198 chr1:3831085-3831085;G/GGGAGGCTGAGGCAGGAGAATGGCATGAA frameshift_variant False CEP112@p.V770G 1 0.5 ENSG00000154240 chr17:65851889-65851889;A/C missense_variant False CEP131@p.S381F 1 0.163 ENSG00000141577 chr17:81199431-81199431;G/A missense_variant False CEP162@p.E932del 1 0.071 ENSG00000135315 chr6:84155494-84155494;CCTT/C inframe_deletion False CEP19@p.N54S 1 0.487 ENSG00000174007 chr3:196707882-196707882;T/C missense_variant False CEP20@p.P130Tfs*33 1 0.6 ENSG00000133393 chr16:15873552-15873552;C/CGTATACGGGAACAGCAATCAAATGTG frameshift_variant False CEP295@p.R62C 1 0.271 ENSG00000166004 chr11:93667682-93667682;C/T missense_variant False CEP295NL@p.E541Gfs*12 1 0.297 ENSG00000178404 chr17:78890878-78890878;CCTCT/C frameshift_variant False CEP295NL@p.H552Sfs*6 1 0.038 ENSG00000178404 chr17:78890850-78890850;G/GCATTTTAAAGA frameshift_variant False CEP350@p.S1240Ffs*3 1 0.064 ENSG00000135837 chr1:180031487-180031487;T/TTC frameshift_variant False CEP350@p.T2124M 1 0.286 ENSG00000135837 chr1:180087663-180087663;C/T missense_variant False CEP41@p.G154R 1 0.097 ENSG00000106477 chr7:130402762-130402762;C/G missense_variant False CEP43@p.D150H 1 0.304 ENSG00000272980 chr6:167010822-167010822;G/C missense_variant False CEP63@p.I541F 1 0.813 ENSG00000182923 chr3:134558295-134558295;A/T missense_variant False CEP83@p.S288C 1 0.75 ENSG00000173588 chr12:94375957-94375957;T/A missense_variant False CEP89@p.P33Hfs*35 1 0.667 ENSG00000121289 chr19:32966408-32966408;G/GTGTGTGTGTGTGTGTGT frameshift_variant False CEP97@p.D37E 1 0.429 ENSG00000182504 chr3:101726661-101726661;T/A missense_variant False CERCAM@p.L359Gfs*23 1 0.333 ENSG00000167123 chr9:128431174-128431174;G/GGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC frameshift_variant False CETN1@p.D114G 1 0.8 ENSG00000177143 chr18:580749-580749;A/G missense_variant False CELSR2@p.L590Pfs*32 1 0.116 ENSG00000143126 chr1:109251846-109251846;A/AC frameshift_variant False CEACAM1@p.I180T 1 0.022 ENSG00000079385 chr19:42522088-42522088;A/G missense_variant False CDC42EP1@p.T162_I163insCPSFLYSQTL 1 0.191 ENSG00000128283 chr22:37568130-37568130;C/CTGTCCTTCATTTCTATACAGTCAGACCCTG inframe_insertion False CEACAM1@p.D227E 1 0.036 ENSG00000079385 chr19:42521946-42521946;G/C missense_variant False CDC45@p.D266Gfs*11 1 0.188 ENSG00000093009 chr22:19505453-19505453;G/GGCCTTTCAAA frameshift_variant False CDC45@p.D266_C267insQKLA 1 0.188 ENSG00000093009 chr22:19505455-19505455;C/CCAGAAACTTGCT inframe_insertion False CDC5L@p.P452Kfs*17 1 0.056 ENSG00000096401 chr6:44422758-44422758;T/TAAAGTGTGTACATTTGTAATAATGA frameshift_variant False CDCA5@p.R14L 1 0.5 ENSG00000146670 chr11:65083938-65083938;C/A missense_variant False CDCP1@p.P719Nfs*100 1 0.025 ENSG00000163814 chr3:45085994-45085994;G/GCTATT frameshift_variant False CDH1@p.V694D 1 0.109 ENSG00000039068 chr16:68823543-68823543;T/A missense_variant True CDH23@p.D2148E 1 0.6 ENSG00000107736 chr10:71793372-71793372;C/G missense_variant False CDH23@p.T208Hfs*15 1 0.194 ENSG00000107736 chr10:71566933-71566933;C/CCATCAAAAAATGAAGAAGAGGAAAAGAAAAGATACTGCATTTTA frameshift_variant False CDH23@p.V2700L 1 0.536 ENSG00000107736 chr10:71806201-71806201;G/C missense_variant False CDH6@p.P517H 1 0.274 ENSG00000113361 chr5:31317412-31317412;C/A missense_variant False CDH8@p.H361Y 1 0.375 ENSG00000150394 chr16:61817675-61817675;G/A missense_variant False CDHR2@p.V160Gfs*20 1 1.0 ENSG00000074276 chr5:176574155-176574155;G/GGATGTCTGAGTGCGCAGTGGCACAGTGAGGC frameshift_variant False CDHR5@p.F175L 1 0.456 ENSG00000099834 chr11:621438-621438;G/T missense_variant False CDK16@p.M355_A356insPS 1 0.42 ENSG00000102225 chrX:47226839-47226839;G/GCCTTCA inframe_insertion False CDK4@p.A248Efs*18 1 0.011 ENSG00000135446 chr12:57749258-57749258;G/GTTCCTTT frameshift_variant False CDK4@p.F249Efs*17 1 0.011 ENSG00000135446 chr12:57749257-57749257;G/GAATTTCA frameshift_variant False CDK5RAP2@p.K1261M 1 0.174 ENSG00000136861 chr9:120437468-120437468;T/A missense_variant False CDK5RAP3@p.Q12_T13insPVSPVSLR 1 1.0 ENSG00000108465 chr17:47971390-47971390;A/AACCTGTGTCTCCGGTCTCCCTCCG inframe_insertion False CDK5RAP3@p.T13Kfs*98 1 1.0 ENSG00000108465 chr17:47971392-47971392;A/AAGCGGCTCAACCCAGC frameshift_variant False CDKL2@p.D557N 1 0.172 ENSG00000138769 chr4:75581877-75581877;C/T missense_variant False CDKL5@p.S580Pfs*32 1 0.024 ENSG00000008086 chrX:18604661-18604661;T/TCCCC frameshift_variant False CDKN2AIP@p.C426Y 1 0.4 ENSG00000168564 chr4:183446961-183446961;G/A missense_variant False CDRT15L2@p.A126G 1 0.023 ENSG00000214819 chr17:20580260-20580260;C/G missense_variant False CDRT15L2@p.A126_K127insYID 1 0.023 ENSG00000214819 chr17:20580261-20580261;C/CTACATTGAT inframe_insertion False CDRT15L2@p.I222Pfs*26 1 0.105 ENSG00000214819 chr17:20580546-20580546;A/ACCGGCTGTCGAGCCAAAGCCAGCATGGGAAG frameshift_variant False COL4A4@p.K556Ifs*7 1 0.091 ENSG00000081052 chr2:227082144-227082144;T/TATACAATTTAGGA frameshift_variant False COL4A5@p.I311S 1 0.333 ENSG00000188153 chrX:108581023-108581023;T/G missense_variant False CCDC106@p.A135V 1 0.75 ENSG00000173581 chr19:55651373-55651373;C/T missense_variant False DENND5B@p.L663F 1 0.119 ENSG00000170456 chr12:31442798-31442798;C/G missense_variant False DERPC@p.V203F 1 0.073 ENSG00000286140 chr16:69119822-69119822;C/A missense_variant False DGCR8@p.V172G 1 0.03 ENSG00000128191 chr22:20086478-20086478;T/G missense_variant False DGKD@p.D332Efs*47 1 0.259 ENSG00000077044 chr2:233438288-233438288;G/GAAAGTGGAGATATAATACGTCTGTT frameshift_variant False DGKE@p.S58T 1 0.126 ENSG00000153933 chr17:56834968-56834968;G/C missense_variant False DGKG@p.V148I 1 0.145 ENSG00000058866 chr3:186288812-186288812;C/T missense_variant False DGKK@p.A645G 1 0.437 ENSG00000274588 chrX:50388611-50388611;G/C missense_variant False DHX36@p.L508F 1 0.143 ENSG00000174953 chr3:154299863-154299863;C/G missense_variant False DHX37@p.S144T 1 0.667 ENSG00000150990 chr12:124980797-124980797;C/G missense_variant False DHX8@p.R610T 1 0.45 ENSG00000067596 chr17:43507103-43507103;G/C missense_variant False DIAPH2@p.K942M 1 0.067 ENSG00000147202 chrX:97247820-97247820;A/T missense_variant False DIPK1B@p.H49Q 1 0.167 ENSG00000165716 chr9:136717660-136717660;C/G missense_variant False DIPK2B@p.V111Efs*6 1 0.571 ENSG00000147113 chrX:45191917-45191917;A/ATTTT frameshift_variant False DIPK2B@p.V111Rfs*177 1 0.571 ENSG00000147113 chrX:45191918-45191918;C/CCTTAGTTCAAAGCCCAATGCCAATCT frameshift_variant False DIRAS3@p.T52M 1 0.276 ENSG00000162595 chr1:68047143-68047143;G/A missense_variant False DIS3L@p.E227Rfs*14 1 0.143 ENSG00000166938 chr15:66311842-66311842;C/CTAGG frameshift_variant False DISC1@p.D89N 1 0.206 ENSG00000162946 chr1:231694023-231694023;G/A missense_variant False DISC1@p.L217P 1 0.236 ENSG00000162946 chr1:231694408-231694408;T/C missense_variant False DISP3@p.S235N 1 0.075 ENSG00000204624 chr1:11501696-11501696;G/A missense_variant False DKK4@p.G34R 1 0.75 ENSG00000104371 chr8:42376946-42376946;C/T missense_variant False DLC1@p.E101D 1 0.184 ENSG00000164741 chr8:13499769-13499769;T/A missense_variant False DLGAP3@p.S960Ffs*232 1 0.079 ENSG00000116544 chr1:34866144-34866144;G/GAAAAATAAATAAAAAAAAA frameshift_variant False DLL3@p.R164L 1 0.188 ENSG00000090932 chr19:39502896-39502896;G/T missense_variant False DLL4@p.P621A 1 0.188 ENSG00000128917 chr15:40936848-40936848;C/G missense_variant False DMC1@p.H295Y 1 0.422 ENSG00000100206 chr22:38521678-38521678;G/A missense_variant False DMD@p.N39K 1 0.231 ENSG00000198947 chrX:32849797-32849797;G/T missense_variant False DEPDC5@p.R485G 1 0.217 ENSG00000100150 chr22:31814999-31814999;C/G missense_variant False DENND5A@p.D1286G 1 0.857 ENSG00000184014 chr11:9139678-9139678;T/C missense_variant False DMD@p.T2432S 1 0.28 ENSG00000198947 chrX:31819989-31819989;G/C missense_variant False DENND4A@p.A789S 1 0.305 ENSG00000174485 chr15:65702370-65702370;C/A missense_variant False DCC@p.C117Mfs*10 1 0.3 ENSG00000187323 chr18:52752310-52752310;A/AATGTCCTCCTCGAC frameshift_variant False DCC@p.Q559E 1 0.5 ENSG00000187323 chr18:53205317-53205317;C/G missense_variant False DCDC2@p.G89R 1 0.508 ENSG00000146038 chr6:24357486-24357486;C/T missense_variant False DCDC2C@p.R181L 1 0.333 ENSG00000214866 chr2:3742045-3742045;G/T missense_variant False DCHS1@p.T932I 1 0.068 ENSG00000166341 chr11:6632717-6632717;G/A missense_variant False DCHS2@p.G2272C 1 0.692 ENSG00000197410 chr4:154255646-154255646;C/A missense_variant False DCLK1@p.A402V 1 0.149 ENSG00000133083 chr13:35836057-35836057;G/A missense_variant False DCLK2@p.R153C 1 0.693 ENSG00000170390 chr4:150102513-150102513;C/T missense_variant False DCLRE1A@p.T551I 1 0.076 ENSG00000198924 chr10:113849453-113849453;G/A missense_variant False DCLRE1B@p.C149S 1 0.219 ENSG00000118655 chr1:113908098-113908098;T/A missense_variant False DCTN1@p.F780L 1 0.028 ENSG00000204843 chr2:74366860-74366860;A/G missense_variant False DCTN4@p.V417M 1 0.738 ENSG00000132912 chr5:150711283-150711283;C/T missense_variant False DDIT4L@p.S30C 1 0.444 ENSG00000145358 chr4:100189896-100189896;T/A missense_variant False DDR1@p.R105W 1 0.351 ENSG00000204580 chr6:30889326-30889326;C/T missense_variant False DDX10@p.V638A 1 0.182 ENSG00000178105 chr11:108723410-108723410;T/C missense_variant False DDX11@p.E901V 1 0.155 ENSG00000013573 chr12:31103817-31103817;A/T missense_variant False DDX24@p.A508S 1 0.253 ENSG00000089737 chr14:94060489-94060489;C/A missense_variant False DDX39B@p.D335N 1 0.292 ENSG00000198563 chr6:31531172-31531172;C/T missense_variant False DDX41@p.E161K 1 0.302 ENSG00000183258 chr5:177515775-177515775;C/T missense_variant False DDX56@p.Q97E 1 0.429 ENSG00000136271 chr7:44572984-44572984;G/C missense_variant False DECR2@p.G105S 1 0.107 ENSG00000242612 chr16:407536-407536;G/A missense_variant False DEF6@p.E302K 1 0.035 ENSG00000023892 chr6:35317987-35317987;G/A missense_variant False DEGS2@p.L56P 1 0.25 ENSG00000168350 chr14:100149626-100149626;A/G missense_variant False DENND1C@p.T298S 1 0.133 ENSG00000205744 chr19:6475518-6475518;G/C missense_variant False DENND3@p.N520Y 1 0.075 ENSG00000105339 chr8:141166194-141166194;A/T missense_variant False DMD@p.S1758P 1 0.138 ENSG00000198947 chrX:32362841-32362841;A/G missense_variant False DMRT2@p.E539Dfs*61 1 0.07 ENSG00000173253 chr9:1057203-1057203;A/ATCATGTGTTGTATACTTCTG frameshift_variant False DCAF8L2@p.I539F 1 0.727 ENSG00000189186 chrX:27748510-27748510;A/T missense_variant False DNAH9@p.D888G 1 0.429 ENSG00000007174 chr17:11664900-11664900;A/G missense_variant False DNAH9@p.K2718N 1 0.036 ENSG00000007174 chr17:11793595-11793595;G/C missense_variant False DNAH9@p.L2679Sfs*19 1 0.068 ENSG00000007174 chr17:11784511-11784511;AC/A frameshift_variant False DNAH9@p.L3097M 1 0.055 ENSG00000007174 chr17:11834680-11834680;C/A missense_variant False DNAH9@p.R1226K 1 0.214 ENSG00000007174 chr17:11680823-11680823;G/A missense_variant False DNAH9@p.T3571N 1 0.083 ENSG00000007174 chr17:11881319-11881319;C/A missense_variant False DNAH9@p.V3577M 1 0.646 ENSG00000007174 chr17:11881336-11881336;G/A missense_variant False DNAI4@p.A444E 1 0.264 ENSG00000152763 chr1:66840632-66840632;G/T missense_variant False DNAI4@p.E198D 1 0.038 ENSG00000152763 chr1:66891203-66891203;T/A missense_variant False DNAJB6@p.G72A 1 0.473 ENSG00000105993 chr7:157366541-157366541;G/C missense_variant False DNAJC11@p.L184Vfs*21 1 0.051 ENSG00000007923 chr1:6652909-6652909;G/GATCAC frameshift_variant False DNAJC11@p.S183Rfs*26 1 0.026 ENSG00000007923 chr1:6652910-6652910;G/GCGGAAGAGAGCACCTGC frameshift_variant False DNAJC6@p.T11Dfs*7 1 0.394 ENSG00000116675 chr1:65309769-65309769;G/GA frameshift_variant False DNHD1@p.L1596I 1 0.64 ENSG00000179532 chr11:6545725-6545725;C/A missense_variant False DNHD1@p.P1824L 1 0.305 ENSG00000179532 chr11:6546410-6546410;C/T missense_variant False DNM2@p.N363S 1 0.097 ENSG00000079805 chr19:10793815-10793815;A/G missense_variant False DNMT1@p.C672_E673insQ 1 0.25 ENSG00000130816 chr19:10154295-10154295;C/CCTG inframe_insertion True DOCK2@p.P322S 1 0.619 ENSG00000134516 chr5:169695923-169695923;C/T missense_variant False DOCK5@p.D575Vfs*14 1 0.222 ENSG00000147459 chr8:25325367-25325367;G/GTACAA frameshift_variant False DOCK5@p.R358H 1 0.088 ENSG00000147459 chr8:25308806-25308806;G/A missense_variant False DOCK6@p.D1544N 1 0.237 ENSG00000130158 chr19:11212013-11212013;C/T missense_variant False DOP1A@p.T1394N 1 0.059 ENSG00000083097 chr6:83138223-83138223;C/A missense_variant False DPEP3@p.V335L 1 0.128 ENSG00000141096 chr16:67977285-67977285;C/G missense_variant False DPP10@p.E717K 1 0.099 ENSG00000175497 chr2:115836713-115836713;G/A missense_variant False DPP10@p.Y282H 1 0.309 ENSG00000175497 chr2:115739885-115739885;T/C missense_variant False DPPA2@p.S259F 1 0.319 ENSG00000163530 chr3:109304553-109304553;G/A missense_variant False DNAH9@p.E2801Dfs*37 1 0.07 ENSG00000007174 chr17:11797774-11797774;G/GATACATCCTCCATCCTCATGTGTTTTCCTAAT frameshift_variant False DNAH8@p.R2932C 1 0.121 ENSG00000124721 chr6:38896079-38896079;C/T missense_variant False DMRT2@p.E539Gfs*56 1 0.07 ENSG00000173253 chr9:1057202-1057202;G/GGTCCT frameshift_variant False DNAH8@p.L4148R 1 0.032 ENSG00000124721 chr6:38951512-38951512;T/G missense_variant False DMXL2@p.C162F 1 0.233 ENSG00000104093 chr15:51564140-51564140;C/A missense_variant False DMXL2@p.V2706Hfs*13 1 0.171 ENSG00000104093 chr15:51458588-51458588;C/CTCGGTCTAGGATAAAAGAATAAGTG frameshift_variant False DNAAF1@p.A359G 1 0.143 ENSG00000154099 chr16:84169904-84169904;C/G missense_variant False DNAAF1@p.P495Q 1 0.366 ENSG00000154099 chr16:84170312-84170312;C/A missense_variant False DNAAF3@p.A86T 1 0.023 ENSG00000167646 chr19:55165436-55165436;C/T missense_variant False DNAH10@p.K2745del 1 0.5 ENSG00000197653 chr12:123877768-123877768;CAAG/C inframe_deletion False DNAH10@p.Q1795E 1 0.241 ENSG00000197653 chr12:123845622-123845622;C/G missense_variant False DNAH11@p.A442P 1 0.305 ENSG00000105877 chr7:21570198-21570198;G/C missense_variant False DNAH11@p.R1865Q 1 0.155 ENSG00000105877 chr7:21683917-21683917;G/A missense_variant False DNAH11@p.T1713M 1 0.171 ENSG00000105877 chr7:21658841-21658841;C/T missense_variant False DNAH12@p.H3639R 1 0.222 ENSG00000174844 chr3:57309835-57309835;T/C missense_variant False DNAH12@p.H387Rfs*26 1 0.358 ENSG00000174844 chr3:57502406-57502406;T/TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAGCAGTGGCGC frameshift_variant False DNAH17@p.G3240D 1 0.082 ENSG00000187775 chr17:78459143-78459143;C/T missense_variant False DNAH17@p.V142Dfs*11 1 0.625 ENSG00000187775 chr17:78572815-78572815;A/AGTGGGGTGGTGGGTGGGGGT frameshift_variant False DNAH17@p.V2966M 1 0.13 ENSG00000187775 chr17:78466699-78466699;C/T missense_variant False DNAH1@p.T2574Vfs*45 1 0.133 ENSG00000114841 chr3:52381750-52381750;C/CGTTCTAGCTCAGTATGTGTGCA frameshift_variant False DNAH2@p.E3785K 1 0.061 ENSG00000183914 chr17:7823857-7823857;G/A missense_variant False DNAH2@p.L3684_L3685insAR 1 0.14 ENSG00000183914 chr17:7821278-7821278;T/TGGCTCG inframe_insertion False DNAH2@p.L3685Dfs*30 1 0.14 ENSG00000183914 chr17:7821279-7821279;A/AGACCCCTCCTTCCCTGAGCCCCTGCTCC frameshift_variant False DNAH5@p.I2900M 1 0.152 ENSG00000039139 chr5:13786299-13786299;A/C missense_variant False DNAH5@p.L4367Q 1 0.75 ENSG00000039139 chr5:13714430-13714430;A/T missense_variant False DNAH6@p.D2806A 1 0.048 ENSG00000115423 chr2:84704254-84704254;A/C missense_variant False DNAH6@p.I249N 1 0.333 ENSG00000115423 chr2:84544316-84544316;T/A missense_variant False DNAH8@p.D1841G 1 0.092 ENSG00000124721 chr6:38852749-38852749;A/G missense_variant False DNAH8@p.E3125Vfs*21 1 0.214 ENSG00000124721 chr6:38907980-38907980;G/GTTTGCCATGTATCACAAGGTTTGTGTAAACAGTCT frameshift_variant False DCBLD2@p.R764W 1 0.167 ENSG00000057019 chr3:98799410-98799410;T/A missense_variant False DCAF5@p.N585Hfs*58 1 0.244 ENSG00000139990 chr14:69054933-69054933;T/TGCATG frameshift_variant False COL4A5@p.P877Q 1 0.25 ENSG00000188153 chrX:108620379-108620379;C/A missense_variant False CR1@p.L1204P 1 0.194 ENSG00000203710 chr1:207563888-207563888;T/C missense_variant False CRB2@p.P550S 1 0.017 ENSG00000148204 chr9:123370701-123370701;C/T missense_variant False CRB2@p.R726H 1 0.472 ENSG00000148204 chr9:123371319-123371319;G/A missense_variant False CREB3@p.Q214L 1 0.167 ENSG00000107175 chr9:35736077-35736077;A/T missense_variant False CREB3L1@p.P392S 1 0.017 ENSG00000157613 chr11:46317403-46317403;C/T missense_variant False CREBBP@p.P2059R 1 0.125 ENSG00000005339 chr16:3728871-3728871;G/C missense_variant True CREBBP@p.P2059S 1 0.125 ENSG00000005339 chr16:3728872-3728872;G/A missense_variant True CREBRF@p.Y155N 1 0.556 ENSG00000164463 chr5:173090642-173090642;T/A missense_variant False CRISP1@p.M18I 1 0.274 ENSG00000124812 chr6:49857347-49857347;C/T missense_variant False CRISP3@p.H97P 1 0.978 ENSG00000096006 chr6:49735530-49735530;T/G missense_variant False CRNN@p.Q316Pfs*14 1 0.385 ENSG00000143536 chr1:152410135-152410135;T/TG frameshift_variant False CROCC@p.R1097P 1 0.021 ENSG00000058453 chr1:16954326-16954326;G/C missense_variant False CRP@p.K75R 1 0.053 ENSG00000132693 chr1:159713976-159713976;T/C missense_variant False CRP@p.L13P 1 0.289 ENSG00000132693 chr1:159714448-159714448;A/G missense_variant False CRTAC1@p.N364K 1 0.215 ENSG00000095713 chr10:97901544-97901544;G/T missense_variant False CRX@p.A156E 1 0.263 ENSG00000105392 chr19:47839534-47839534;C/A missense_variant False CRYBG1@p.S998_V999insLSAPAPGDVPKD 1 0.286 ENSG00000112297 chr6:106520201-106520201;C/CACTGTCTGCACCCGCTCCTGGGGATGTTCCCAAAGA inframe_insertion False CRYGB@p.R90G 1 0.129 ENSG00000182187 chr2:208142898-208142898;T/C missense_variant False CRYZ@p.A261T 1 0.114 ENSG00000116791 chr1:74706946-74706946;C/T missense_variant False CS@p.K43E 1 0.472 ENSG00000062485 chr12:56285990-56285990;T/C missense_variant False CSMD1@p.E696G 1 0.063 ENSG00000183117 chr8:3406206-3406206;T/C missense_variant False CSMD1@p.G2872A 1 0.088 ENSG00000183117 chr8:2974576-2974576;C/G missense_variant False CSMD2@p.F231I 1 0.036 ENSG00000121904 chr1:33935781-33935781;A/T missense_variant False CSMD2@p.M2254T 1 0.123 ENSG00000121904 chr1:33600960-33600960;A/G missense_variant False CSMD3@p.F166I 1 0.133 ENSG00000164796 chr8:113278610-113278610;A/T missense_variant False CSMD3@p.G1389R 1 0.42 ENSG00000164796 chr8:112556832-112556832;C/T missense_variant False CR2@p.K436Sfs*14 1 0.048 ENSG00000117322 chr1:207470819-207470819;A/ATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATG frameshift_variant False CPXCR1@p.K216E 1 0.259 ENSG00000147183 chrX:88754060-88754060;A/G missense_variant False CSMD3@p.L1600F 1 0.25 ENSG00000164796 chr8:112506788-112506788;G/A missense_variant False CPT1A@p.Q406Hfs*6 1 0.054 ENSG00000110090 chr11:68781905-68781905;C/CAGCCACA frameshift_variant False COL5A1@p.V1813Afs*9 1 0.054 ENSG00000130635 chr9:134842223-134842223;G/GCACATCA frameshift_variant False COL5A2@p.G372E 1 1.0 ENSG00000204262 chr2:189072083-189072083;C/T missense_variant False COL6A2@p.P416L 1 0.184 ENSG00000142173 chr21:46119097-46119097;C/T missense_variant False COL6A3@p.Q985K 1 0.026 ENSG00000163359 chr2:237376889-237376889;G/T missense_variant False COL6A5@p.W335C 1 0.249 ENSG00000172752 chr3:130469180-130469180;G/C missense_variant False COLCA2@p.G173A 1 0.095 None chr11:111308199-111308199;G/C missense_variant False COMMD7@p.R49S 1 0.167 ENSG00000149600 chr20:32727987-32727987;T/G missense_variant False COMP@p.C328F 1 0.385 ENSG00000105664 chr19:18787643-18787643;C/A missense_variant False COMT@p.G235Tfs*64 1 0.025 ENSG00000093010 chr22:19968621-19968621;GCGGGAGCAGCTGCTTTGAGTGCA/G frameshift_variant False COP1@p.F521C 1 0.038 ENSG00000143207 chr1:176043236-176043236;A/C missense_variant False COQ2@p.R123C 1 0.432 ENSG00000173085 chr4:83279001-83279001;G/A missense_variant False COQ6@p.R337T 1 0.308 ENSG00000119723 chr14:73961291-73961291;G/C missense_variant False CORO2A@p.K108R 1 0.083 ENSG00000106789 chr9:98134951-98134951;T/C missense_variant False CORO2A@p.P64R 1 0.263 ENSG00000106789 chr9:98157470-98157470;G/C missense_variant False CPA2@p.Q186K 1 0.293 ENSG00000158516 chr7:130275218-130275218;C/A missense_variant False CPAMD8@p.A1422S 1 0.089 ENSG00000160111 chr19:16903845-16903845;C/A missense_variant False CPAMD8@p.S1369P 1 0.029 ENSG00000160111 chr19:16904475-16904475;A/G missense_variant False CPED1@p.T890A 1 0.111 ENSG00000106034 chr7:121267249-121267249;A/G missense_variant False CPLANE1@p.L1132I 1 0.093 ENSG00000197603 chr5:37201704-37201704;G/T missense_variant False CPLX4@p.A37D 1 0.385 ENSG00000166569 chr18:59318353-59318353;G/T missense_variant False CPNE8@p.I135V 1 0.125 ENSG00000139117 chr12:38829383-38829383;T/C missense_variant False CPNE8@p.Y538H 1 0.591 ENSG00000139117 chr12:38653965-38653965;A/G missense_variant False CPS1@p.G822A 1 0.078 ENSG00000021826 chr2:210612190-210612190;G/C missense_variant False CPSF1@p.W1312C 1 0.063 ENSG00000071894 chr8:144393962-144393962;C/A missense_variant False CPT1A@p.K405_Q406insPGCW 1 0.054 ENSG00000110090 chr11:68781906-68781906;T/TGCCAACACCCTG inframe_insertion False CSMD3@p.I865F 1 0.197 ENSG00000164796 chr8:112682526-112682526;T/A missense_variant False CSMD3@p.L596M 1 0.092 ENSG00000164796 chr8:112829759-112829759;G/T missense_variant False DCAF4L2@p.P169A 1 1.0 ENSG00000176566 chr8:87873467-87873467;G/C missense_variant False CXXC1@p.G577S 1 0.755 ENSG00000154832 chr18:50282949-50282949;C/T missense_variant False CYB5RL@p.E64K 1 0.164 ENSG00000256407 chr1:54195427-54195427;C/T missense_variant False CYLC2@p.S49L 1 0.104 ENSG00000155833 chr9:103003229-103003229;C/T missense_variant False CYP11B1@p.L18R 1 0.122 ENSG00000160882 chr8:142879761-142879761;A/C missense_variant False CYP19A1@p.L120H 1 0.273 ENSG00000137869 chr15:51227871-51227871;A/T missense_variant False CYP1A1@p.D393N 1 0.455 ENSG00000140465 chr15:74721043-74721043;C/T missense_variant False CYP24A1@p.K354R 1 0.113 ENSG00000019186 chr20:54159053-54159053;T/C missense_variant False CYP2C18@p.I213V 1 0.828 ENSG00000108242 chr10:94695072-94695072;A/G missense_variant False CYP3A4@p.A400S 1 0.073 ENSG00000160868 chr7:99762096-99762096;C/A missense_variant False CYP4F12@p.R515W 1 0.482 ENSG00000186204 chr19:15697053-15697053;C/T missense_variant False CYP4F22@p.C222S 1 0.286 ENSG00000171954 chr19:15537987-15537987;G/C missense_variant False CYP7B1@p.G147D 1 0.078 ENSG00000172817 chr8:64616101-64616101;C/T missense_variant False CYP8B1@p.D210N 1 0.204 ENSG00000180432 chr3:42875189-42875189;C/T missense_variant False CYTH4@p.I40T 1 0.014 ENSG00000100055 chr22:37294676-37294676;T/C missense_variant False DAAM2@p.K487Ifs*30 1 0.042 ENSG00000146122 chr6:39878501-39878501;G/GATCTCTTTTA frameshift_variant False DACT1@p.A769T 1 0.12 ENSG00000165617 chr14:58647039-58647039;G/A missense_variant False DACT1@p.G744Sfs*12 1 1.0 ENSG00000165617 chr14:58646962-58646962;G/GAAGTCCTCGGCCGAGATTTCCTACGAAGA frameshift_variant False DAGLA@p.E857K 1 0.184 ENSG00000134780 chr11:61743929-61743929;G/A missense_variant False DAGLA@p.L674Qfs*6 1 0.25 ENSG00000134780 chr11:61741192-61741192;GCTCTGCT/G frameshift_variant False DAPK1@p.V930A 1 0.397 ENSG00000196730 chr9:87700155-87700155;T/C missense_variant False DAPK2@p.L47_E48insTPFLLTRF 1 0.017 ENSG00000035664 chr15:63983705-63983705;C/CGAAGCGGGTAAGGAGGAAGGGGGT inframe_insertion False DBR1@p.M430Nfs*4 1 0.058 ENSG00000138231 chr3:138162237-138162237;T/TG frameshift_variant False DBT@p.R376C 1 0.089 ENSG00000137992 chr1:100206528-100206528;G/A missense_variant False DCAF11@p.A126V 1 0.333 ENSG00000100897 chr14:24117359-24117359;C/T missense_variant False DCAF4L1@p.A316T 1 0.233 ENSG00000182308 chr4:41982738-41982738;G/A missense_variant False DCAF4L2@p.F168Y 1 1.0 ENSG00000176566 chr8:87873469-87873469;A/T missense_variant False CXorf65@p.A20S 1 0.14 chrX:71106394-71106394;C/A missense_variant False CXCL2@p.L46W 1 0.231 ENSG00000081041 chr4:74098886-74098886;A/C missense_variant False CSMD3@p.P889T 1 0.067 ENSG00000164796 chr8:112682454-112682454;G/T missense_variant False CUX1@p.N908S 1 0.052 ENSG00000257923 chr7:102202020-102202020;A/G missense_variant False CSMD3@p.R22Q 1 0.365 ENSG00000164796 chr8:113436790-113436790;C/T missense_variant False CSNK1G2@p.A394V 1 0.13 ENSG00000133275 chr19:1980005-1980005;C/T missense_variant False CSPG4@p.H1788P 1 0.273 ENSG00000173546 chr15:75677156-75677156;T/G missense_variant False CSPG4@p.S2141G 1 0.321 ENSG00000173546 chr15:75676098-75676098;T/C missense_variant False CSRNP1@p.S543P 1 0.636 ENSG00000144655 chr3:39143198-39143198;A/G missense_variant False CST1@p.V81Gfs*28 1 0.048 ENSG00000170373 chr20:23749116-23749116;A/AC frameshift_variant False CST3@p.A121Efs*27 1 0.382 ENSG00000101439 chr20:23633995-23633995;G/GAGAGCAGCTCAGTCCCTGGGGTCTGCTCAACT frameshift_variant False CSTB@p.Y85N 1 0.091 ENSG00000160213 chr21:43774246-43774246;A/T missense_variant False CSTF2@p.R330L 1 0.068 ENSG00000101811 chrX:100831614-100831614;G/T missense_variant False CTAGE1@p.D475Sfs*87 1 0.105 ENSG00000212710 chr18:22416390-22416390;A/ACAGAACAGAAGCATAAAGTAGCTGAGGAT frameshift_variant False CTAGE9@p.Y408Pfs*6 1 0.286 ENSG00000236761 chr6:131709796-131709796;A/ACCATGCGG frameshift_variant False CTBP1@p.E319Q 1 0.364 ENSG00000159692 chr4:1213511-1213511;C/G missense_variant False CTC1@p.C144Y 1 0.1 ENSG00000178971 chr17:8238396-8238396;C/T missense_variant False CTCFL@p.R406H 1 0.081 ENSG00000124092 chr20:57514705-57514705;C/T missense_variant False CTSA@p.D138Afs*48 1 0.167 ENSG00000064601 chr20:45892452-45892452;G/GCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCT frameshift_variant False CTSV@p.R96Q 1 0.392 ENSG00000136943 chr9:97037361-97037361;C/T missense_variant False CTTN@p.S109C 1 0.27 ENSG00000085733 chr11:70414576-70414576;C/G missense_variant False CTTNBP2NL@p.R573G 1 0.038 ENSG00000143079 chr1:112457209-112457209;A/G missense_variant False CUBN@p.T2899_A2900insY 1 0.044 ENSG00000107611 chr10:16890429-16890429;A/ATAC inframe_insertion False CUL1@p.S536N 1 0.095 ENSG00000055130 chr7:148789759-148789759;G/A missense_variant False CUL3@p.N281I 1 0.191 ENSG00000036257 chr2:224511395-224511395;T/A missense_variant False CUL3@p.N362S 1 0.75 ENSG00000036257 chr2:224506077-224506077;T/C missense_variant False CUL5@p.I753Nfs*21 1 0.429 ENSG00000166266 chr11:108104298-108104298;A/AATTTTGCTTT frameshift_variant False CUL7@p.Q241K 1 0.097 ENSG00000044090 chr6:43051623-43051623;G/T missense_variant False CUL9@p.R1334L 1 0.615 ENSG00000112659 chr6:43203568-43203568;G/T missense_variant False CCDC112@p.E341G 1 0.222 ENSG00000164221 chr5:115271523-115271523;T/C missense_variant False CCDC102B@p.T195K 1 0.558 ENSG00000150636 chr18:68837347-68837347;C/A missense_variant False DPYSL5@p.R442L 1 0.052 ENSG00000157851 chr2:26942635-26942635;G/T missense_variant False ALDH2@p.N457Tfs*53 1 0.813 ENSG00000111275 chr12:111800024-111800024;C/CAACCTGGGAGG frameshift_variant False ALDH9A1@p.G281A 1 0.647 ENSG00000143149 chr1:165679530-165679530;C/G missense_variant False ALG6@p.Q417L 1 0.347 ENSG00000088035 chr1:63429050-63429050;A/T missense_variant False ALMS1@p.E1113D 1 0.044 ENSG00000116127 chr2:73449866-73449866;G/T missense_variant False ALMS1@p.G3665Afs*4 1 0.222 ENSG00000116127 chr2:73572870-73572870;G/GCATCAAT frameshift_variant False ALMS1@p.G3665Qfs*19 1 0.222 ENSG00000116127 chr2:73572869-73572869;T/TCA frameshift_variant False ALMS1@p.I3381S 1 0.387 ENSG00000116127 chr2:73557283-73557283;T/G missense_variant False ALMS1@p.Q2320P 1 0.413 ENSG00000116127 chr2:73453486-73453486;A/C missense_variant False ALMS1@p.R3678* 1 0.314 ENSG00000116127 chr2:73572908-73572908;GCGGTT/G frameshift_variant False ALOX15B@p.M574I 1 0.263 ENSG00000179593 chr17:8047786-8047786;G/A missense_variant False ALPK2@p.C998F 1 0.455 ENSG00000198796 chr18:58537194-58537194;C/A missense_variant False ALPK3@p.G1162A 1 0.122 ENSG00000136383 chr15:84858223-84858223;G/C missense_variant False AMDHD2@p.N274T 1 0.175 ENSG00000162066 chr16:2528339-2528339;A/C missense_variant False AMER1@p.P237L 1 0.429 ENSG00000184675 chrX:64192577-64192577;G/A missense_variant True AMIGO1@p.L286Kfs*2 1 0.031 ENSG00000181754 chr1:109508001-109508001;TGGTGTCACCCACACCTTGGTCATCCCTTGCTGCTTGGTGTCACACTTGATGATCAA/T frameshift_variant False AMPH@p.R140W 1 0.288 ENSG00000078053 chr7:38476948-38476948;T/A missense_variant False AMTN@p.E198Q 1 0.044 ENSG00000187689 chr4:70531273-70531273;G/C missense_variant False ANAPC5@p.L63Rfs*21 1 0.375 ENSG00000089053 chr12:121352153-121352153;A/ACCCAC frameshift_variant False ANAPC5@p.Q62_L63insTE 1 0.231 ENSG00000089053 chr12:121352154-121352154;G/GCTCAGT inframe_insertion False ANAPC7@p.G597D 1 0.167 ENSG00000196510 chr12:110374154-110374154;C/T missense_variant False ANGPTL5@p.R92S 1 0.889 ENSG00000187151 chr11:101905813-101905813;T/G missense_variant False ANGPTL6@p.G267D 1 0.092 ENSG00000130812 chr19:10093844-10093844;C/T missense_variant False ANGPTL7@p.A233T 1 0.089 ENSG00000171819 chr1:11194485-11194485;G/A missense_variant False ANK1@p.A1346S 1 0.193 ENSG00000029534 chr8:41690295-41690295;C/A missense_variant False ANK2@p.V259G 1 0.413 ENSG00000145362 chr4:113240567-113240567;T/G missense_variant False ANK3@p.E314K 1 0.7 ENSG00000151150 chr10:60213468-60213468;C/T missense_variant False ALDH3A1@p.P318L 1 0.134 ENSG00000108602 chr17:19739671-19739671;G/A missense_variant False ALDH2@p.N457Rfs*24 1 0.813 ENSG00000111275 chr12:111800026-111800026;A/AGAGGTTTCAGTGAGCCGAG frameshift_variant False ANKDD1A@p.L463Q 1 0.055 ENSG00000166839 chr15:64949877-64949877;T/A missense_variant False ALDH2@p.G389A 1 0.068 ENSG00000111275 chr12:111798160-111798160;G/C missense_variant False AHNAK2@p.Q4358R 1 0.397 ENSG00000185567 chr14:104942378-104942378;T/C missense_variant False AHNAK@p.N3459Cfs*3 1 0.073 ENSG00000124942 chr11:62524040-62524040;ATT/A frameshift_variant False AHNAK@p.P2351T 1 0.056 ENSG00000124942 chr11:62527366-62527366;G/T missense_variant False AHSA1@p.E29G 1 0.159 ENSG00000100591 chr14:77459621-77459621;A/G missense_variant False AIFM3@p.L304P 1 0.129 ENSG00000183773 chr22:20976419-20976419;T/C missense_variant False AIRE@p.C434G 1 0.469 ENSG00000160224 chr21:44293810-44293810;T/G missense_variant False AJUBA@p.E398D 1 0.5 ENSG00000129474 chr14:22976501-22976501;C/A missense_variant False AK7@p.L680* 1 0.583 ENSG00000140057 chr14:96486957-96486957;TC/T frameshift_variant False AK9@p.Q1574E 1 0.054 ENSG00000155085 chr6:109506456-109506456;G/C missense_variant False AKAP11@p.T1022A 1 0.727 ENSG00000023516 chr13:42301810-42301810;A/G missense_variant False AKAP12@p.E1565K 1 0.658 ENSG00000131016 chr6:151353084-151353084;G/A missense_variant False AKAP13@p.G1093_V1094insLNNFM 1 0.071 ENSG00000170776 chr15:85581346-85581346;G/GACTCAACAATTTCAT inframe_insertion False AKAP13@p.G846C 1 0.145 ENSG00000170776 chr15:85580604-85580604;G/T missense_variant False AKAP13@p.G846V 1 0.143 ENSG00000170776 chr15:85580605-85580605;G/T missense_variant False AKAP13@p.L2178F 1 0.706 ENSG00000170776 chr15:85723109-85723109;G/T missense_variant False AKAP13@p.N420D 1 0.042 ENSG00000170776 chr15:85579326-85579326;A/G missense_variant False AKAP1@p.S27Lfs*10 1 0.125 ENSG00000121057 chr17:57105543-57105543;T/TTGGCAGAGAGATTTAAAGTTTG frameshift_variant False AKAP6@p.E1535Vfs*16 1 0.041 ENSG00000151320 chr14:32822416-32822416;G/GTGATTGATCCTGGCTTGATGGACCT frameshift_variant False AKAP9@p.E898K 1 0.212 ENSG00000127914 chr7:92002609-92002609;G/A missense_variant False AKNA@p.K372R 1 0.071 ENSG00000106948 chr9:114376692-114376692;T/C missense_variant False AKNAD1@p.D31N 1 0.289 ENSG00000162641 chr1:108852574-108852574;C/T missense_variant False AKR1C3@p.C154W 1 0.149 ENSG00000196139 chr10:5099341-5099341;T/G missense_variant False AKR1D1@p.I21F 1 0.278 ENSG00000122787 chr7:138076579-138076579;A/T missense_variant False AKR7L@p.R269W 1 0.222 ENSG00000211454 chr1:19268601-19268601;G/A missense_variant False ALDH16A1@p.A492S 1 0.181 ENSG00000161618 chr19:49464668-49464668;G/T missense_variant False ANK3@p.I4287T 1 0.073 ENSG00000151150 chr10:60055863-60055863;A/G missense_variant False ANKDD1A@p.M462_L463insMET 1 0.055 ENSG00000166839 chr15:64949875-64949875;G/GATGGAAACA inframe_insertion False AHCY@p.A294V 1 0.467 ENSG00000101444 chr20:34290423-34290423;G/A missense_variant False APEH@p.E34K 1 0.25 ENSG00000164062 chr3:49674576-49674576;G/A missense_variant False APOA4@p.G338Dfs*13 1 0.608 ENSG00000110244 chr11:116821045-116821045;C/CATATTTTGTCTTGGGATAATGTGTGACAT frameshift_variant False APOA4@p.H339Nfs*39 1 0.598 ENSG00000110244 chr11:116821043-116821043;G/GGGAATATAAGTAGGTT frameshift_variant False APOA4@p.M390I 1 0.174 ENSG00000110244 chr11:116820888-116820888;C/A missense_variant False APOB@p.A1457V 1 0.427 ENSG00000084674 chr2:21012498-21012498;G/A missense_variant False APOB@p.I1533T 1 0.095 ENSG00000084674 chr2:21012270-21012270;A/G missense_variant False APPL1@p.A622E 1 0.265 ENSG00000157500 chr3:57267764-57267764;C/A missense_variant False ARAP1@p.E833K 1 0.135 ENSG00000186635 chr11:72699049-72699049;C/T missense_variant False ARAP3@p.T262I 1 0.071 ENSG00000120318 chr5:141673722-141673722;G/A missense_variant False ARFGEF1@p.A1334V 1 0.238 ENSG00000066777 chr8:67226099-67226099;G/A missense_variant False ARFGEF1@p.L1649S 1 0.133 ENSG00000066777 chr8:67204693-67204693;A/G missense_variant False ARHGAP15@p.H349Tfs*12 1 0.162 ENSG00000075884 chr2:143624173-143624173;C/CACTTTATATTCAGG frameshift_variant False ARHGAP15@p.S426C 1 0.144 ENSG00000075884 chr2:143768021-143768021;C/G missense_variant False ARHGAP1@p.E197Dfs*10 1 1.0 ENSG00000175220 chr11:46681055-46681055;C/CGGGCATGGGCTTGGGGGCTG frameshift_variant False ARHGAP1@p.Y188F 1 0.125 ENSG00000175220 chr11:46681083-46681083;T/A missense_variant False ARHGAP21@p.A213P 1 0.667 ENSG00000107863 chr10:24621258-24621258;C/G missense_variant False ARHGAP21@p.M214Pfs*13 1 0.667 ENSG00000107863 chr10:24621256-24621256;G/GAGTGGTGGGAATTGATAATGGT frameshift_variant False ARHGAP25@p.S128_Y129insFW 1 0.444 ENSG00000163219 chr2:68787874-68787874;C/CTTTTGG inframe_insertion False ARHGAP25@p.S546A 1 0.142 ENSG00000163219 chr2:68822775-68822775;T/G missense_variant False ARHGAP26@p.K261Q 1 0.058 ENSG00000145819 chr5:142903618-142903618;A/C missense_variant False ARHGAP28@p.K369E 1 0.078 ENSG00000088756 chr18:6873559-6873559;A/G missense_variant False ARHGAP33@p.T515P 1 0.089 ENSG00000004777 chr19:35784293-35784293;A/C missense_variant False ARHGAP35@p.A455Rfs*7 1 0.289 ENSG00000160007 chr19:46920033-46920033;A/AAG frameshift_variant False ARHGAP4@p.Q682H 1 0.374 ENSG00000089820 chrX:153910281-153910281;C/A missense_variant False ARHGAP5@p.Q375H 1 0.3 ENSG00000100852 chr14:32091794-32091794;G/T missense_variant False ARHGAP5@p.V1111F 1 0.703 ENSG00000100852 chr14:32094000-32094000;G/T missense_variant False APEX2@p.P408H 1 0.75 ENSG00000169188 chrX:55007101-55007101;C/A missense_variant False APBB1@p.L329Q 1 0.24 ENSG00000166313 chr11:6403373-6403373;A/T missense_variant False ANKEF1@p.A534T 1 0.2 ENSG00000132623 chr20:10050169-10050169;G/A missense_variant False APBB1@p.G366R 1 0.226 ENSG00000166313 chr11:6403153-6403153;C/T missense_variant False ANKEF1@p.R186H 1 0.031 ENSG00000132623 chr20:10044404-10044404;G/A missense_variant False ANKIB1@p.N521H 1 0.55 ENSG00000001629 chr7:92371551-92371551;A/C missense_variant False ANKK1@p.G442D 1 0.114 ENSG00000170209 chr11:113399294-113399294;G/A missense_variant False ANKLE1@p.P349L 1 0.116 ENSG00000160117 chr19:17283810-17283810;C/T missense_variant False ANKLE2@p.S806T 1 0.188 ENSG00000176915 chr12:132729745-132729745;C/G missense_variant False ANKRD13D@p.E497* 1 0.25 ENSG00000172932 chr11:67301626-67301626;T/TG frameshift_variant False ANKRD17@p.R1403G 1 0.353 ENSG00000132466 chr4:73115898-73115898;G/C missense_variant False ANKRD26@p.E1512D 1 0.128 ENSG00000107890 chr10:27014682-27014682;C/G missense_variant False ANKRD27@p.L762Rfs*5 1 0.024 ENSG00000105186 chr19:32607723-32607723;A/AATGCC frameshift_variant False ANKRD35@p.D150N 1 0.018 ENSG00000198483 chr1:145876574-145876574;C/T missense_variant False ANKRD35@p.L641V 1 0.218 ENSG00000198483 chr1:145872848-145872848;A/C missense_variant False ANKRD36@p.S795G 1 0.148 ENSG00000135976 chr2:97192987-97192987;A/G missense_variant False ANKRD6@p.R248C 1 0.071 ENSG00000135299 chr6:89617981-89617981;C/T missense_variant False ANKZF1@p.A486T 1 0.048 ENSG00000163516 chr2:219235077-219235077;G/A missense_variant False ANO3@p.G814R 1 0.343 ENSG00000134343 chr11:26647720-26647720;G/A missense_variant False ANO6@p.E669K 1 0.079 ENSG00000177119 chr12:45409481-45409481;G/A missense_variant False ANPEP@p.P533L 1 0.255 ENSG00000166825 chr15:89801579-89801579;G/A missense_variant False ANTXR2@p.K207E 1 0.218 ENSG00000163297 chr4:80054289-80054289;T/C missense_variant False ANXA7@p.P4S 1 0.75 ENSG00000138279 chr10:73400847-73400847;G/A missense_variant False AP1G1@p.A75V 1 0.075 ENSG00000166747 chr16:71774570-71774570;G/A missense_variant False AP1G2@p.A449Gfs*49 1 0.084 ENSG00000213983 chr14:23563444-23563444;G/GC frameshift_variant False AP1M1@p.L98Q 1 0.267 ENSG00000072958 chr19:16208044-16208044;T/A missense_variant False AP3B2@p.S704P 1 0.083 ENSG00000103723 chr15:82664862-82664862;A/G missense_variant False AP5M1@p.G295E 1 0.175 ENSG00000053770 chr14:57280358-57280358;G/A missense_variant False APBA1@p.S407P 1 0.733 ENSG00000107282 chr9:69476125-69476125;A/G missense_variant False AHI1@p.V784E 1 0.769 ENSG00000135541 chr6:135431230-135431230;A/T missense_variant False AGTPBP1@p.V634E 1 0.625 ENSG00000135049 chr9:85632776-85632776;A/T missense_variant False ARHGDIB@p.F178L 1 0.429 ENSG00000111348 chr12:14942594-14942594;G/T missense_variant False ABCC9@p.R491G 1 0.112 ENSG00000069431 chr12:21906273-21906273;T/C missense_variant False ABCD2@p.S162N 1 0.104 ENSG00000173208 chr12:39619131-39619131;C/T missense_variant False ABCD2@p.S162_A163insIYLETKTKHIS 1 0.104 ENSG00000173208 chr12:39619129-39619129;C/CGGAAATATGTTTAGTCTTAGTTTCTAAATATAT inframe_insertion False ABCG1@p.L217R 1 0.084 ENSG00000160179 chr21:42282335-42282335;T/G missense_variant False ABCG1@p.L550Q 1 0.6 ENSG00000160179 chr21:42291652-42291652;T/A missense_variant False ABCG1@p.T46M 1 0.553 ENSG00000160179 chr21:42225765-42225765;C/T missense_variant False ABHD2@p.G277V 1 0.435 ENSG00000140526 chr15:89188207-89188207;G/T missense_variant False ABRA@p.D187H 1 0.011 ENSG00000174429 chr8:106769632-106769632;C/G missense_variant False AC008878.3@p.L415Tfs*105 1 0.25 None chr19:7453615-7453615;A/AACTCCGTCCACCCTACCCTCCCCCC frameshift_variant False AC135068.1@p.T241A 1 0.645 None chr15:21638727-21638727;A/G missense_variant False ACAA2@p.A39P 1 0.046 ENSG00000167315 chr18:49802755-49802755;C/G missense_variant False ACACA@p.G1908D 1 0.068 ENSG00000278540 chr17:37130175-37130175;C/T missense_variant False ACACA@p.T637Gfs*11 1 0.083 ENSG00000278540 chr17:37252954-37252954;T/TAATGTCTAGAATCTGCAGTTTGACTCCC frameshift_variant False ACAD11@p.T697N 1 0.115 ENSG00000240303 chr3:132561129-132561129;G/T missense_variant False ACADSB@p.S12G 1 0.279 ENSG00000196177 chr10:123009063-123009063;A/G missense_variant False ACADVL@p.D604_T605insL 1 0.273 ENSG00000072778 chr17:7224869-7224869;C/CCTT inframe_insertion False ACADVL@p.T605_W606insSNVI 1 0.273 ENSG00000072778 chr17:7224871-7224871;C/CCAGCAATGTAAT inframe_insertion False ACAN@p.G1996R 1 0.183 ENSG00000157766 chr15:88858571-88858571;G/A missense_variant False ACER2@p.T153A 1 0.504 ENSG00000177076 chr9:19435038-19435038;A/G missense_variant False ACHE@p.F503I 1 0.4 ENSG00000087085 chr7:100892380-100892380;A/T missense_variant False ACO1@p.G828A 1 0.12 ENSG00000122729 chr9:32449008-32449008;G/C missense_variant False ACOD1@p.A101T 1 0.16 ENSG00000102794 chr13:76955355-76955355;G/A missense_variant False ACOT6@p.T285Lfs*66 1 0.053 ENSG00000205669 chr14:73619424-73619424;T/TTTTAGGCCGGTTGCGGTGGCTCACACCTGTAATCGCAG frameshift_variant False ACOT7@p.K162Rfs*59 1 0.357 ENSG00000097021 chr1:6333501-6333501;CT/C frameshift_variant False ACOX1@p.A346T 1 0.111 ENSG00000161533 chr17:75951486-75951486;C/T missense_variant False ACOXL@p.D471Lfs*10 1 0.061 ENSG00000153093 chr2:111049258-111049258;T/TCTGGG frameshift_variant False ABCC9@p.Y373C 1 0.013 ENSG00000069431 chr12:21910872-21910872;T/C missense_variant False ABCC6@p.I1424T 1 0.207 ENSG00000091262 chr16:16150710-16150710;A/G missense_variant False ACP3@p.A274T 1 0.778 ENSG00000014257 chr3:132349958-132349958;G/A missense_variant False ABCC4@p.S907_L908insVVMNH 1 0.036 ENSG00000125257 chr13:95075516-95075516;G/GGTGATTCATCACAAC inframe_insertion False AANAT@p.A34D 1 0.416 ENSG00000129673 chr17:76468847-76468847;C/A missense_variant False AARD@p.C34W 1 0.483 ENSG00000205002 chr8:116938345-116938345;C/G missense_variant False ABCA12@p.K1446R 1 0.278 ENSG00000144452 chr2:214983692-214983692;T/C missense_variant False ABCA12@p.S1470R 1 0.077 ENSG00000144452 chr2:214982356-214982356;G/C missense_variant False ABCA13@p.I1058Efs*16 1 0.057 ENSG00000179869 chr7:48272837-48272837;G/GGAAA frameshift_variant False ABCA13@p.P1930Qfs*4 1 0.236 ENSG00000179869 chr7:48275454-48275454;C/CAG frameshift_variant False ABCA13@p.P1930Vfs*16 1 0.232 ENSG00000179869 chr7:48275452-48275452;C/CGGTCAATTTGCTTGTTGGCTTGATGGAAAAATTTGCAG frameshift_variant False ABCA13@p.S5047F 1 0.413 ENSG00000179869 chr7:48645475-48645475;C/T missense_variant False ABCA4@p.A495P 1 0.128 ENSG00000198691 chr1:94077761-94077761;C/G missense_variant False ABCA4@p.G456R 1 0.145 ENSG00000198691 chr1:94077878-94077878;C/T missense_variant False ABCA4@p.R1129H 1 0.07 ENSG00000198691 chr1:94041345-94041345;C/T missense_variant False ABCA4@p.T1572R 1 0.05 ENSG00000198691 chr1:94021904-94021904;G/C missense_variant False ABCA5@p.V598F 1 0.521 ENSG00000154265 chr17:69289287-69289287;C/A missense_variant False ABCA6@p.S1557T 1 0.167 ENSG00000154262 chr17:69081093-69081093;A/T missense_variant False ABCA7@p.A41Pfs*19 1 0.25 ENSG00000064687 chr19:1041562-1041562;T/TCCCCTGGGAAAGGGGACCG frameshift_variant False ABCA7@p.L39_V40insG 1 0.25 ENSG00000064687 chr19:1041560-1041560;G/GGGA inframe_insertion False ABCA9@p.M1042I 1 0.182 ENSG00000154258 chr17:69011997-69011997;C/A missense_variant False ABCB10@p.I184V 1 0.167 ENSG00000135776 chr1:229549402-229549402;T/C missense_variant False ABCB11@p.D675Mfs*18 1 0.075 ENSG00000073734 chr2:168968479-168968479;C/CAT frameshift_variant False ABCB11@p.T887I 1 0.076 ENSG00000073734 chr2:168936384-168936384;G/A missense_variant False ABCB1@p.A677V 1 0.2 ENSG00000085563 chr7:87544857-87544857;G/A missense_variant False ABCB1@p.P693S 1 0.171 ENSG00000085563 chr7:87544263-87544263;G/A missense_variant False ABCB5@p.D1199Y 1 0.286 ENSG00000004846 chr7:20755445-20755445;G/T missense_variant False ABCC1@p.G844D 1 0.214 ENSG00000103222 chr16:16090475-16090475;G/A missense_variant False ABCC4@p.S907Cfs*42 1 0.036 ENSG00000125257 chr13:95075518-95075518;G/GAGACAATAATGGCACAC frameshift_variant False ACOXL@p.P470Hfs*10 1 0.061 ENSG00000153093 chr2:111049256-111049256;C/CAT frameshift_variant False ACR@p.Y228Tfs*70 1 0.108 ENSG00000100312 chr22:50744175-50744175;G/GCACCCCCCATCCACCT frameshift_variant False AGT@p.T360N 1 0.082 ENSG00000135744 chr1:230705978-230705978;G/T missense_variant False ADGRA2@p.E873K 1 0.26 ENSG00000020181 chr8:37840226-37840226;G/A missense_variant False ADGRE1@p.I727T 1 0.15 ENSG00000174837 chr19:6926559-6926559;T/C missense_variant False ADGRE2@p.F642L 1 0.099 ENSG00000127507 chr19:14751534-14751534;G/T missense_variant False ADGRF3@p.Y843_E848dup 1 0.371 ENSG00000173567 chr2:26310978-26310978;C/CATTCCCCCTCCCTCAGGT inframe_insertion False ADGRF5@p.L1027S 1 0.205 ENSG00000069122 chr6:46858823-46858823;A/G missense_variant False ADGRG1@p.D114E 1 0.252 ENSG00000205336 chr16:57651477-57651477;C/A missense_variant False ADGRG2@p.R581S 1 0.502 ENSG00000173698 chrX:19006098-19006098;T/A missense_variant False ADGRG4@p.S804C 1 0.333 ENSG00000156920 chrX:136346116-136346116;A/T missense_variant False ADGRG6@p.C1227F 1 0.116 ENSG00000112414 chr6:142443442-142443442;G/T missense_variant False ADGRG7@p.F701C 1 0.218 ENSG00000144820 chr3:100669071-100669071;T/G missense_variant False ADGRV1@p.I2415L 1 0.183 ENSG00000164199 chr5:90693999-90693999;A/C missense_variant False ADGRV1@p.K5445E 1 0.143 ENSG00000164199 chr5:90823561-90823561;A/G missense_variant False ADH1A@p.V42E 1 0.029 ENSG00000187758 chr4:99286984-99286984;A/T missense_variant False ADH1C@p.D274G 1 0.022 ENSG00000248144 chr4:99342802-99342802;T/C missense_variant False ADRA2A@p.E384K 1 0.17 ENSG00000150594 chr10:111079146-111079146;G/A missense_variant False AEBP2@p.S274F 1 0.093 ENSG00000139154 chr12:19462659-19462659;C/T missense_variant False AFF3@p.R532W 1 0.122 ENSG00000144218 chr2:99594067-99594067;T/A missense_variant False AFG1L@p.E106Q 1 0.096 ENSG00000135537 chr6:108324001-108324001;G/C missense_variant False AGA@p.D70E 1 0.328 ENSG00000038002 chr4:177440344-177440344;G/C missense_variant False AGA@p.S176P 1 0.167 ENSG00000038002 chr4:177437501-177437501;A/G missense_variant False AGAP4@p.G680S 1 0.051 ENSG00000188234 chr10:45825938-45825938;C/T missense_variant False AGAP6@p.S256Y 1 0.049 ENSG00000204149 chr10:50008892-50008892;C/A missense_variant False AGK@p.C72F 1 0.078 ENSG00000006530 chr7:141596635-141596635;G/T missense_variant False AGMO@p.Q342E 1 0.203 ENSG00000187546 chr7:15385496-15385496;G/C missense_variant False AGO2@p.P484S 1 0.176 ENSG00000123908 chr8:140549252-140549252;G/A missense_variant False AGR2@p.T18S 1 0.038 ENSG00000106541 chr7:16801744-16801744;G/C missense_variant False ADGRA2@p.S963N 1 0.339 ENSG00000020181 chr8:37841226-37841226;G/A missense_variant False ADGB@p.D256V 1 0.361 ENSG00000118492 chr6:146666830-146666830;A/T missense_variant False ACSS1@p.S601C 1 0.03 ENSG00000154930 chr20:25009359-25009359;T/A missense_variant False ADGB@p.D256Afs*42 1 0.367 ENSG00000118492 chr6:146666829-146666829;G/GC frameshift_variant False ACTG2@p.A23T 1 0.37 ENSG00000163017 chr2:73901378-73901378;G/A missense_variant False ACTL7B@p.V126M 1 0.244 ENSG00000148156 chr9:108855555-108855555;C/T missense_variant False ACTRT1@p.L51Efs*13 1 0.073 ENSG00000123165 chrX:128052057-128052057;T/TGGATGACATGTCCATCTGGCAGTCTGTATGCTCC frameshift_variant False ACTRT2@p.A148T 1 0.105 ENSG00000169717 chr1:3022128-3022128;G/A missense_variant False ADA2@p.S205L 1 0.564 ENSG00000093072 chr22:17203702-17203702;G/A missense_variant False ADA@p.D307Y 1 0.384 ENSG00000196839 chr20:44621074-44621074;C/A missense_variant False ADAM18@p.F460L 1 0.089 ENSG00000168619 chr8:39668051-39668051;T/A missense_variant False ADAM18@p.S571Lfs*29 1 0.075 ENSG00000168619 chr8:39680115-39680115;T/TC frameshift_variant False ADAM20@p.L340V 1 0.25 ENSG00000134007 chr14:70523740-70523740;A/C missense_variant False ADAM29@p.Q21K 1 0.059 ENSG00000168594 chr4:174975586-174975586;C/A missense_variant False ADAM29@p.Q753Lfs*118 1 0.2 ENSG00000168594 chr4:174977782-174977782;C/CTACAAAACTTTGTTCCAGAGCATGCATTTATCAT frameshift_variant False ADAM30@p.K80N 1 0.187 ENSG00000134249 chr1:119896097-119896097;C/A missense_variant False ADAM7@p.H665Q 1 0.227 ENSG00000069206 chr8:24500249-24500249;T/A missense_variant False ADAMTS10@p.D248E 1 0.035 ENSG00000142303 chr19:8600994-8600994;G/C missense_variant False ADAMTS12@p.S1323R 1 0.22 ENSG00000151388 chr5:33576057-33576057;G/C missense_variant False ADAMTS13@p.A481P 1 0.299 ENSG00000160323 chr9:133437754-133437754;G/C missense_variant False ADAMTS13@p.E515_D516insTLTRL 1 0.1 ENSG00000160323 chr9:133437857-133437857;A/AGACACTCACAAGGTT inframe_insertion False ADAMTS16@p.P214S 1 0.164 ENSG00000145536 chr5:5182182-5182182;C/T missense_variant False ADAMTS5@p.S236L 1 0.176 ENSG00000154736 chr21:26965685-26965685;G/A missense_variant False ADAMTS6@p.G264V 1 0.224 ENSG00000049192 chr5:65452759-65452759;C/A missense_variant False ADAMTS6@p.P973Qfs*68 1 0.129 ENSG00000049192 chr5:65173002-65173002;GA/G frameshift_variant False ADAMTS6@p.R920H 1 0.05 ENSG00000049192 chr5:65188167-65188167;C/T missense_variant False ADCY10@p.M613K 1 0.149 ENSG00000143199 chr1:167859865-167859865;A/T missense_variant False ADCY4@p.A1033Cfs*27 1 0.091 ENSG00000129467 chr14:24318553-24318553;C/CCTTTCAAAATGCTTAGTCTCACA frameshift_variant False ADCY5@p.E453Q 1 0.263 ENSG00000173175 chr3:123347831-123347831;C/G missense_variant False ARHGAP6@p.F432Tfs*17 1 0.222 ENSG00000047648 chrX:11182098-11182098;A/AATGTTGT frameshift_variant False ARHGEF11@p.G1230C 1 0.227 ENSG00000132694 chr1:156940252-156940252;C/A missense_variant False CCAR2@p.L620Dfs*38 1 0.833 ENSG00000158941 chr8:22617431-22617431;G/GGATTA frameshift_variant False BTBD8@p.L490Q 1 0.049 ENSG00000189195 chr1:92168891-92168891;T/A missense_variant False BUB3@p.V203L 1 0.046 ENSG00000154473 chr10:123162266-123162266;G/T missense_variant False BVES@p.L155Efs*11 1 0.023 ENSG00000112276 chr6:105125465-105125465;CAA/C frameshift_variant False C10orf120@p.K29M 1 0.605 chr10:122699705-122699705;T/A missense_variant False C10orf71@p.A1188T 1 0.615 chr10:49326107-49326107;G/A missense_variant False C10orf71@p.H254P 1 0.063 chr10:49323306-49323306;A/C missense_variant False C11orf87@p.E188K 1 0.349 chr11:109424195-109424195;G/A missense_variant False C16orf87@p.G101R 1 0.149 chr16:46809648-46809648;C/T missense_variant False C17orf80@p.F120S 1 0.152 chr17:73235841-73235841;T/C missense_variant False C17orf97@p.P327T 1 0.333 chr17:413822-413822;C/A missense_variant False C19orf44@p.S386I 1 0.145 chr19:16509506-16509506;G/T missense_variant False C1GALT1@p.M250V 1 0.364 ENSG00000106392 chr7:7238782-7238782;A/G missense_variant False C1QA@p.T135A 1 0.061 ENSG00000173372 chr1:22639072-22639072;A/G missense_variant False C1QC@p.M95Afs*15 1 0.167 ENSG00000159189 chr1:22647327-22647327;GAT/G frameshift_variant False C1QTNF7@p.A11V 1 0.053 ENSG00000163145 chr4:15435775-15435775;C/T missense_variant False C1S@p.K602I 1 0.679 ENSG00000182326 chr12:7070389-7070389;A/T missense_variant False C1orf112@p.L328F 1 0.476 chr1:169827186-169827186;G/C missense_variant False C1orf116@p.A394E 1 0.296 chr1:207022583-207022583;G/T missense_variant False C1orf127@p.V245G 1 0.203 chr1:10957067-10957067;A/C missense_variant False C2CD2@p.A592T 1 0.111 ENSG00000157617 chr21:41899149-41899149;C/T missense_variant False C2CD3@p.V581_E582insPKS 1 0.081 ENSG00000168014 chr11:74113880-74113880;T/TGACTTTGGA inframe_insertion False C2CD6@p.S262A 1 0.634 ENSG00000155754 chr2:201571990-201571990;A/C missense_variant False C2orf16@p.E3735Q 1 0.189 chr2:27577563-27577563;G/C missense_variant False C3orf56@p.P118L 1 0.338 chr3:127197038-127197038;C/T missense_variant False C3orf62@p.A102T 1 0.172 chr3:49276569-49276569;C/T missense_variant False C5@p.V1612A 1 0.105 ENSG00000106804 chr9:120953796-120953796;A/G missense_variant False BTNL8@p.A267V 1 0.383 ENSG00000113303 chr5:180948367-180948367;C/T missense_variant False BTBD10@p.T79M 1 0.212 ENSG00000148925 chr11:13421704-13421704;G/A missense_variant False C6orf15@p.K78N 1 0.037 chr6:31112125-31112125;C/A missense_variant False BTBD10@p.S37L 1 0.667 ENSG00000148925 chr11:13421830-13421830;G/A missense_variant False BICRAL@p.Q423H 1 0.15 ENSG00000112624 chr6:42829602-42829602;A/C missense_variant False BMP10@p.D50E 1 0.114 ENSG00000163217 chr2:68871209-68871209;G/T missense_variant False BMP10@p.G189V 1 0.16 ENSG00000163217 chr2:68866340-68866340;C/A missense_variant False BMP2@p.A148E 1 0.282 ENSG00000125845 chr20:6778341-6778341;C/A missense_variant False BMP3@p.A425D 1 0.521 ENSG00000152785 chr4:81053391-81053391;C/A missense_variant False BMP5@p.A373T 1 0.136 ENSG00000112175 chr6:55759103-55759103;C/T missense_variant False BMPER@p.A409G 1 0.357 ENSG00000164619 chr7:34079004-34079004;C/G missense_variant False BMS1@p.R391Q 1 0.097 ENSG00000165733 chr10:42793934-42793934;G/A missense_variant False BMT2@p.P355H 1 0.116 ENSG00000164603 chr7:112821898-112821898;G/T missense_variant False BNC1@p.F116L 1 0.146 ENSG00000169594 chr15:83266925-83266925;A/G missense_variant False BNC2@p.E823D 1 0.571 ENSG00000173068 chr9:16435725-16435725;T/A missense_variant False BNIP2@p.T33A 1 0.206 ENSG00000140299 chr15:59680262-59680262;T/C missense_variant False BNIP5@p.M623K 1 0.417 ENSG00000189325 chr6:36319411-36319411;A/T missense_variant False BPTF@p.K994N 1 0.135 ENSG00000171634 chr17:67909751-67909751;G/C missense_variant False BRAT1@p.T349M 1 0.2 ENSG00000106009 chr7:2541806-2541806;G/A missense_variant False BRCA1@p.S784T 1 0.267 ENSG00000012048 chr17:43093181-43093181;A/T missense_variant True BRINP1@p.D517Y 1 0.214 ENSG00000078725 chr9:119167821-119167821;C/A missense_variant False BRINP2@p.L396P 1 0.06 ENSG00000198797 chr1:177278737-177278737;T/C missense_variant False BRINP3@p.Y628F 1 0.063 ENSG00000162670 chr1:190098436-190098436;T/A missense_variant False BRIX1@p.D169_P170insVLVTG 1 0.045 ENSG00000113460 chr5:34922765-34922765;C/CGTCTTAGTGACTGGG inframe_insertion False BRPF3@p.R1044P 1 0.2 ENSG00000096070 chr6:36222215-36222215;G/C missense_variant False BRWD1@p.D2222N 1 0.066 ENSG00000185658 chr21:39196405-39196405;C/T missense_variant False BRWD1@p.K1878N 1 0.115 ENSG00000185658 chr21:39198782-39198782;T/A missense_variant False BRWD3@p.H1658Lfs*118 1 0.27 ENSG00000165288 chrX:80677044-80677044;AT/A frameshift_variant False BSCL2@p.Q397H 1 0.224 ENSG00000168000 chr11:62690655-62690655;C/A missense_variant False C6orf15@p.E113D 1 0.161 chr6:31112020-31112020;C/G missense_variant False C7@p.R233H 1 0.222 ENSG00000112936 chr5:40945328-40945328;G/A missense_variant False BEND4@p.T289A 1 0.667 ENSG00000188848 chr4:42143617-42143617;T/C missense_variant False CAP1@p.S62C 1 0.184 ENSG00000131236 chr1:40060138-40060138;A/T missense_variant False CAPN2@p.C240Sfs*27 1 0.255 ENSG00000162909 chr1:223747154-223747154;T/TCAGTAGTGTCAAGGGTAGCG frameshift_variant False CAPNS1@p.D154Y 1 0.25 ENSG00000126247 chr19:36145809-36145809;G/T missense_variant False CAPZA1@p.A130Ifs*24 1 0.135 ENSG00000116489 chr1:112654632-112654632;A/AATTTCCATCTTTCTTTTATCTT frameshift_variant False CARD14@p.A890T 1 0.19 ENSG00000141527 chr17:80205629-80205629;G/A missense_variant False CARMIL1@p.D909Y 1 0.37 ENSG00000079691 chr6:25556833-25556833;G/T missense_variant False CARMIL1@p.L734F 1 0.091 ENSG00000079691 chr6:25539952-25539952;A/C missense_variant False CARMIL1@p.T434R 1 0.617 ENSG00000079691 chr6:25495191-25495191;C/G missense_variant False CASC3@p.D3E 1 0.353 ENSG00000108349 chr17:40140557-40140557;C/G missense_variant False CASC3@p.F326del 1 0.333 ENSG00000108349 chr17:40163669-40163669;GTTT/G inframe_deletion False CASKIN2@p.A767G 1 0.154 ENSG00000177303 chr17:75502774-75502774;G/C missense_variant False CASKIN2@p.A767Rfs*30 1 0.154 ENSG00000177303 chr17:75502775-75502775;C/CTTCT frameshift_variant False CASP12@p.N115I 1 0.512 ENSG00000204403 chr11:104892419-104892419;T/A missense_variant False CASP1@p.E38K 1 0.287 ENSG00000137752 chr11:105034370-105034370;C/T missense_variant False CASP4@p.A94P 1 0.333 ENSG00000196954 chr11:104951988-104951988;C/G missense_variant False CASP7@p.E274Q 1 0.341 ENSG00000165806 chr10:113729448-113729448;G/C missense_variant False CAT@p.R263Q 1 0.286 ENSG00000121691 chr11:34456087-34456087;G/A missense_variant False CBLB@p.A927V 1 0.148 ENSG00000114423 chr3:105659139-105659139;G/A missense_variant False CBLB@p.P554Hfs*24 1 0.242 ENSG00000114423 chr3:105702392-105702392;G/GACTTCCCAACCTTTTAT frameshift_variant False CBLIF@p.V207Wfs*6 1 0.056 ENSG00000134812 chr11:59841216-59841216;AC/A frameshift_variant False CBLN1@p.S54_V55insCPQ 1 0.25 ENSG00000102924 chr16:49281303-49281303;C/CTTGGGGACA inframe_insertion False CBX2@p.P80L 1 1.0 ENSG00000173894 chr17:79781752-79781752;C/T missense_variant False CBX3@p.Q15Tfs*6 1 0.786 ENSG00000122565 chr7:26206378-26206378;G/GA frameshift_variant False CC2D1B@p.Y177C 1 0.046 ENSG00000154222 chr1:52360497-52360497;T/C missense_variant False CC2D2B@p.I872Afs*13 1 0.136 ENSG00000188649 chr10:95992668-95992668;T/TGCTTTACCTCTCC frameshift_variant False CC2D2B@p.I872Mfs*9 1 0.136 ENSG00000188649 chr10:95992670-95992670;T/TG frameshift_variant False CAPN2@p.C240Mfs*34 1 0.24 ENSG00000162909 chr1:223747153-223747153;C/CA frameshift_variant False CANT1@p.A53V 1 0.4 ENSG00000171302 chr17:78997465-78997465;G/A missense_variant False C8orf37@p.V139Hfs*17 1 0.128 chr8:95252246-95252246;A/AAGCTGGATGATGGATGGATGGGAGCTGGATTATGGAG frameshift_variant False CAND1@p.D98N 1 0.051 ENSG00000111530 chr12:67292701-67292701;G/A missense_variant False C9orf131@p.A132V 1 0.1 chr9:35043024-35043024;C/T missense_variant False C9orf131@p.L1009F 1 0.394 chr9:35045654-35045654;C/T missense_variant False C9orf131@p.S473C 1 0.2 chr9:35044046-35044046;A/T missense_variant False CACNA1A@p.G1824S 1 0.02 ENSG00000141837 chr19:13230140-13230140;C/T missense_variant False CACNA1B@p.S1129P 1 0.206 ENSG00000148408 chr9:138043872-138043872;T/C missense_variant False CACNA1F@p.F324Y 1 0.307 ENSG00000102001 chrX:49228294-49228294;A/T missense_variant False CACNA1G@p.A1966S 1 0.25 ENSG00000006283 chr17:50619797-50619797;G/T missense_variant False CACNA1G@p.F967Pfs*46 1 0.055 ENSG00000006283 chr17:50592080-50592080;CTT/C frameshift_variant False CACNA1G@p.R113C 1 1.0 ENSG00000006283 chr17:50568964-50568964;C/T missense_variant False CACNA1H@p.D1520_Q1521insG 1 0.064 ENSG00000196557 chr16:1211799-1211799;C/CGGG inframe_insertion False CACNA1H@p.R1236H 1 0.343 ENSG00000196557 chr16:1209375-1209375;G/A missense_variant False CACNA1I@p.V862L 1 0.047 ENSG00000100346 chr22:39659832-39659832;G/C missense_variant False CACNA1S@p.G1211R 1 0.112 ENSG00000081248 chr1:201054540-201054540;C/T missense_variant False CACNA2D3@p.A364S 1 0.146 ENSG00000157445 chr3:54642164-54642164;G/T missense_variant False CACNA2D4@p.D916Efs*27 1 0.333 ENSG00000151062 chr12:1801618-1801618;A/AATGAAGAGCAAATGGCTTT frameshift_variant False CACNB1@p.V121Dfs*22 1 0.12 ENSG00000067191 chr17:39187531-39187531;A/AT frameshift_variant False CACNG2@p.E85_A87del 1 0.815 ENSG00000166862 chr22:36587496-36587496;ATCTGCATCC/A inframe_deletion False CAD@p.A1272V 1 0.158 ENSG00000084774 chr2:27235273-27235273;C/T missense_variant False CAD@p.P2184L 1 0.047 ENSG00000084774 chr2:27243268-27243268;C/T missense_variant False CADM4@p.A300V 1 0.048 ENSG00000105767 chr19:43625107-43625107;G/A missense_variant False CADPS2@p.Y1144H 1 0.333 ENSG00000081803 chr7:122360971-122360971;A/G missense_variant False CAGE1@p.Q238E 1 0.565 ENSG00000164304 chr6:7374107-7374107;G/C missense_variant False CAMSAP1@p.A987T 1 0.296 ENSG00000130559 chr9:135821702-135821702;C/T missense_variant False CAMSAP2@p.Y58H 1 0.011 ENSG00000118200 chr1:200760871-200760871;T/C missense_variant False CAMTA1@p.L983Sfs*68 1 0.691 ENSG00000171735 chr1:7732478-7732478;G/GCTCTCTACCAGATCTCATGTCAGGGTTTCCGTTGGGGAATTTGACA frameshift_variant False BICD1@p.C968S 1 0.089 ENSG00000151746 chr12:32377602-32377602;G/C missense_variant False BECN1@p.T6S 1 0.133 ENSG00000126581 chr17:42823862-42823862;T/A missense_variant False ARHGEF12@p.E1371G 1 0.08 ENSG00000196914 chr11:120480305-120480305;A/G missense_variant False ASCC2@p.S356Y 1 0.216 ENSG00000100325 chr22:29806503-29806503;G/T missense_variant False ASH2L@p.G365R 1 0.041 ENSG00000129691 chr8:38121077-38121077;G/A missense_variant False ASIC5@p.R284H 1 0.886 ENSG00000256394 chr4:155843691-155843691;C/T missense_variant False ASNS@p.T94S 1 0.222 ENSG00000070669 chr7:97864466-97864466;T/A missense_variant False ASNSD1@p.F73I 1 0.113 ENSG00000138381 chr2:189666349-189666349;T/A missense_variant False ASPHD1@p.V343E 1 0.2 ENSG00000174939 chr16:29904930-29904930;T/A missense_variant False ASPHD2@p.C75Y 1 0.08 ENSG00000128203 chr22:26433839-26433839;G/A missense_variant False ASPM@p.K1505R 1 0.5 ENSG00000066279 chr1:197104737-197104737;T/C missense_variant False ASPM@p.R256K 1 0.143 ENSG00000066279 chr1:197143485-197143485;C/T missense_variant False ASPM@p.R3009S 1 0.467 ENSG00000066279 chr1:197094141-197094141;T/G missense_variant False ASRGL1@p.E74K 1 0.615 ENSG00000162174 chr11:62356354-62356354;G/A missense_variant False ASTL@p.N423S 1 0.39 ENSG00000188886 chr2:96123878-96123878;T/C missense_variant False ASTN1@p.L1268F 1 0.164 ENSG00000152092 chr1:176864367-176864367;G/A missense_variant False ATCAY@p.R152C 1 0.2 ENSG00000167654 chr19:3907829-3907829;C/T missense_variant False ATF6@p.F571Lfs*33 1 0.5 ENSG00000118217 chr1:161863302-161863302;C/CGTTATACTCTTTTT frameshift_variant False ATF6@p.P652Ifs*46 1 0.158 ENSG00000118217 chr1:161958594-161958594;C/CATTTTCAAAACTGGTAATGGGAAATTTAT frameshift_variant False ATF7@p.T455P 1 0.088 ENSG00000170653 chr12:53517226-53517226;T/G missense_variant False ATF7IP@p.D506H 1 0.196 ENSG00000171681 chr12:14425431-14425431;G/C missense_variant False ATG16L1@p.A225V 1 0.12 ENSG00000085978 chr2:233270034-233270034;C/T missense_variant False ATG2B@p.D1630N 1 0.239 ENSG00000066739 chr14:96303210-96303210;C/T missense_variant False ATG3@p.E129K 1 0.19 ENSG00000144848 chr3:112544065-112544065;C/T missense_variant False ATM@p.E2037K 1 0.098 ENSG00000149311 chr11:108316024-108316024;G/A missense_variant True ATM@p.V2705I 1 0.363 ENSG00000149311 chr11:108335071-108335071;G/A missense_variant True ATP10A@p.E555Afs*13 1 0.13 ENSG00000206190 chr15:25716842-25716842;T/TACATAGCCAG frameshift_variant False ATP10D@p.N283S 1 0.324 ENSG00000145246 chr4:47535580-47535580;A/G missense_variant False ATP13A1@p.G88A 1 0.286 ENSG00000105726 chr19:19663404-19663404;C/G missense_variant False ASCL3@p.M78V 1 0.053 ENSG00000176009 chr11:8937930-8937930;T/C missense_variant False ASCC2@p.D618Pfs*39 1 0.143 ENSG00000100325 chr22:29793427-29793427;C/CGGGATGATCACTTGTAGTCCAGG frameshift_variant False ATP13A3@p.L719V 1 0.133 ENSG00000133657 chr3:194433862-194433862;A/C missense_variant False ASB3@p.Y71C 1 0.119 ENSG00000115239 chr2:53750926-53750926;T/C missense_variant False ARHGEF12@p.E238D 1 0.17 ENSG00000196914 chr11:120429762-120429762;G/C missense_variant False ARHGEF15@p.H258Q 1 0.039 ENSG00000198844 chr17:8313094-8313094;C/G missense_variant False ARHGEF16@p.S339N 1 0.224 ENSG00000130762 chr1:3469587-3469587;G/A missense_variant False ARHGEF17@p.R1861Pfs*34 1 1.0 ENSG00000110237 chr11:73365420-73365420;C/CCTTTCCCTTCTAGGCTTCAGCTTCCCCACCTGTCCAGGGGGAG frameshift_variant False ARHGEF17@p.R1974H 1 0.171 ENSG00000110237 chr11:73365873-73365873;G/A missense_variant False ARHGEF26@p.K386R 1 0.049 ENSG00000114790 chr3:154129607-154129607;A/G missense_variant False ARHGEF28@p.A1158Efs*31 1 0.077 ENSG00000214944 chr5:73892136-73892136;G/GAAACAACCAAATTTTCTTGTCAA frameshift_variant False ARHGEF28@p.A1158Qfs*24 1 0.077 ENSG00000214944 chr5:73892135-73892135;T/TCA frameshift_variant False ARHGEF33@p.I104M 1 0.875 ENSG00000214694 chr2:38929780-38929780;C/G missense_variant False ARHGEF35@p.H8R 1 0.076 ENSG00000213214 chr7:144188361-144188361;T/C missense_variant False ARHGEF4@p.G598V 1 0.091 ENSG00000136002 chr2:130915739-130915739;G/T missense_variant False ARID4B@p.P199A 1 0.5 ENSG00000054267 chr1:235234483-235234483;G/C missense_variant False ARMC2@p.E647K 1 0.143 ENSG00000118690 chr6:108961595-108961595;G/A missense_variant False ARNT2@p.E203Vfs*5 1 0.286 ENSG00000172379 chr15:80475206-80475206;C/CAGTAGCTGTATCGT frameshift_variant False ARNT2@p.K368R 1 0.105 ENSG00000172379 chr15:80555078-80555078;A/G missense_variant False ARPC5@p.S77N 1 0.111 ENSG00000162704 chr1:183630624-183630624;C/T missense_variant False ARRDC3@p.V57L 1 0.087 ENSG00000113369 chr5:91382924-91382924;C/A missense_variant False ARRDC5@p.T243P 1 0.055 ENSG00000205784 chr19:4891306-4891306;T/G missense_variant False ARSF@p.K533N 1 0.632 ENSG00000062096 chrX:3112382-3112382;G/C missense_variant False ARSF@p.L310F 1 0.113 ENSG00000062096 chrX:3089595-3089595;G/C missense_variant False ARSK@p.C81G 1 0.8 ENSG00000164291 chr5:95566112-95566112;T/G missense_variant False ARV1@p.P174Afs*14 1 0.6 ENSG00000173409 chr1:230995820-230995820;C/CA frameshift_variant False ARVCF@p.R537Lfs*11 1 0.125 ENSG00000099889 chr22:19978047-19978047;G/GAAGGCAGCAA frameshift_variant False ASB14@p.A167T 1 0.5 ENSG00000239388 chr3:57283410-57283410;C/T missense_variant False ASB2@p.E318G 1 0.016 ENSG00000100628 chr14:93947448-93947448;T/C missense_variant False ATP13A2@p.S826Rfs*13 1 0.133 ENSG00000159363 chr1:16989938-16989938;G/GGTCTTGAACTC frameshift_variant False ATP13A4@p.Q1064K 1 0.03 ENSG00000127249 chr3:193412196-193412196;G/T missense_variant False BECN1@p.S7Efs*64 1 0.13 ENSG00000126581 chr17:42823860-42823860;C/CATCACATCCAGCAAATTCTTCA frameshift_variant False ATXN2@p.Y822F 1 0.479 ENSG00000204842 chr12:111485324-111485324;T/A missense_variant False AURKA@p.A105G 1 0.096 ENSG00000087586 chr20:56386262-56386262;G/C missense_variant False AXDND1@p.R828Q 1 0.333 ENSG00000162779 chr1:179509390-179509390;G/A missense_variant False AXIN2@p.C497Tfs*134 1 0.043 ENSG00000168646 chr17:65537547-65537547;A/AAAGGCTTTGT frameshift_variant False AZGP1@p.N257D 1 0.19 ENSG00000160862 chr7:99967131-99967131;T/C missense_variant False AZGP1@p.N257S 1 0.19 ENSG00000160862 chr7:99967130-99967130;T/C missense_variant False B3GALT2@p.H130N 1 0.286 ENSG00000162630 chr1:193181175-193181175;G/T missense_variant False B3GNT3@p.R161Q 1 0.364 ENSG00000179913 chr19:17808289-17808289;G/A missense_variant False B3GNT5@p.N124D 1 0.111 ENSG00000176597 chr3:183270168-183270168;A/G missense_variant False B4GALNT1@p.L89Pfs*13 1 0.089 ENSG00000135454 chr12:57631319-57631319;G/GC frameshift_variant False B4GALT6@p.Y340Wfs*19 1 0.6 ENSG00000118276 chr18:31625744-31625744;T/TGCTCGCC frameshift_variant False BACE2@p.L490R 1 0.158 ENSG00000182240 chr21:41275536-41275536;T/G missense_variant False BACH2@p.S784R 1 0.121 ENSG00000112182 chr6:89932584-89932584;T/G missense_variant False BAG6@p.P265L 1 0.036 ENSG00000204463 chr6:31646518-31646518;G/A missense_variant False BAG6@p.T391Nfs*29 1 0.079 ENSG00000204463 chr6:31645145-31645145;T/TG frameshift_variant False BARX1@p.G215R 1 0.128 ENSG00000131668 chr9:93952286-93952286;C/T missense_variant False BAZ2B@p.H579Y 1 0.5 ENSG00000226266 chr2:159432922-159432922;G/A missense_variant False BAZ2B@p.P1536R 1 0.237 ENSG00000226266 chr2:159349964-159349964;G/C missense_variant False BCAR1@p.G527D 1 0.083 ENSG00000050820 chr16:75235319-75235319;C/T missense_variant False BCHE@p.A267G 1 0.052 ENSG00000114200 chr3:165830234-165830234;G/C missense_variant False BCHE@p.P297H 1 0.534 ENSG00000114200 chr3:165830144-165830144;G/T missense_variant False BCL9@p.P978L 1 0.204 ENSG00000116128 chr1:147622301-147622301;C/T missense_variant False BCOR@p.S1358P 1 0.147 ENSG00000183337 chrX:40062847-40062847;A/G missense_variant True BCORL1@p.P1680Hfs*23 1 0.286 ENSG00000085185 chrX:130056038-130056038;C/CATGGT frameshift_variant False BCORL1@p.T652S 1 0.09 ENSG00000085185 chrX:130014727-130014727;C/G missense_variant False BDP1@p.A1448E 1 0.038 ENSG00000145734 chr5:71513280-71513280;C/A missense_variant False ATXN7L3B@p.D28V 1 0.636 ENSG00000253719 chr12:74538195-74538195;A/T missense_variant False ATRX@p.V957Sfs*7 1 0.958 ENSG00000085224 chrX:77682387-77682387;C/CT frameshift_variant True ATP1A2@p.M119Sfs*8 1 0.167 ENSG00000018625 chr1:160123388-160123388;C/CATCACAAATGCCA frameshift_variant False ATRX@p.S719Ifs*2 1 0.982 ENSG00000085224 chrX:77683101-77683101;A/AT frameshift_variant True ATP1A3@p.G200S 1 0.388 ENSG00000105409 chr19:41985872-41985872;C/T missense_variant False ATP1A3@p.I470_P471insHPP 1 0.4 ENSG00000105409 chr19:41981529-41981529;A/AGGTGGGTGG inframe_insertion False ATP1A3@p.P471Rfs*27 1 0.4 ENSG00000105409 chr19:41981527-41981527;G/GCC frameshift_variant False ATP1B1@p.N193K 1 0.161 ENSG00000143153 chr1:169130021-169130021;T/A missense_variant False ATP1B2@p.P176Rfs*15 1 0.088 ENSG00000129244 chr17:7654231-7654231;C/CGTCTCCGACCATACCCCCAAGTA frameshift_variant False ATP2B1@p.G681R 1 0.204 ENSG00000070961 chr12:89616828-89616828;C/G missense_variant False ATP2B2@p.R790H 1 0.364 ENSG00000157087 chr3:10350147-10350147;C/T missense_variant False ATP2B3@p.R482H 1 0.184 ENSG00000067842 chrX:153549603-153549603;G/A missense_variant False ATP2B4@p.T660I 1 0.482 ENSG00000058668 chr1:203711056-203711056;C/T missense_variant False ATP4A@p.I183F 1 0.1 ENSG00000105675 chr19:35560603-35560603;T/A missense_variant False ATP6V0A1@p.V292F 1 0.19 ENSG00000033627 chr17:42487218-42487218;G/T missense_variant False ATP6V0A2@p.I561F 1 0.846 ENSG00000185344 chr12:123747682-123747682;A/T missense_variant False ATP7B@p.D765N 1 0.311 ENSG00000123191 chr13:51958373-51958373;C/T missense_variant False ATP8A1@p.I90K 1 0.263 ENSG00000124406 chr4:42624630-42624630;A/T missense_variant False ATP8B2@p.K938E 1 0.028 ENSG00000143515 chr1:154346264-154346264;A/G missense_variant False ATPSCKMT@p.W124Ffs*49 1 0.143 ENSG00000150756 chr5:10236548-10236548;TACCAA/T frameshift_variant False ATR@p.A1495T 1 0.692 ENSG00000175054 chr3:142515415-142515415;C/T missense_variant False ATR@p.I2021V 1 0.093 ENSG00000175054 chr3:142493149-142493149;T/C missense_variant False ATRN@p.H1068Y 1 0.296 ENSG00000088812 chr20:3591186-3591186;C/T missense_variant False ATRNL1@p.S1212T 1 0.13 ENSG00000107518 chr10:115469309-115469309;T/A missense_variant False ATRX@p.C1122Lfs*8 1 0.625 ENSG00000085224 chrX:77681890-77681890;AC/A frameshift_variant True ATRX@p.E1522K 1 0.475 ENSG00000085224 chrX:77636050-77636050;C/T missense_variant True ATRX@p.M1800K 1 0.772 ENSG00000085224 chrX:77618855-77618855;A/T missense_variant True ATRX@p.P270T 1 0.294 ENSG00000085224 chrX:77684448-77684448;G/T missense_variant True ATRX@p.P36A 1 0.105 ENSG00000085224 chrX:77717158-77717158;G/C missense_variant True DPYSL3@p.E173Dfs*8 1 0.125 ENSG00000113657 chr5:147418583-147418583;T/TGA frameshift_variant False DRD3@p.A151Sfs*11 1 0.041 ENSG00000151577 chr3:114147490-114147490;C/CATTTCTGCAAATGAATACAATGA frameshift_variant False MMEL1@p.Q666E 1 0.357 ENSG00000142606 chr1:2592838-2592838;G/C missense_variant False KCNQ1@p.V541I 1 0.179 ENSG00000053918 chr11:2775990-2775990;G/A missense_variant False KCNS2@p.F101L 1 0.16 ENSG00000156486 chr8:98428282-98428282;C/A missense_variant False KCNS3@p.N256H 1 0.043 ENSG00000170745 chr2:17931774-17931774;A/C missense_variant False KCNS3@p.T269M 1 0.01 ENSG00000170745 chr2:17931814-17931814;C/T missense_variant False KCNT2@p.R293Q 1 0.294 ENSG00000162687 chr1:196428211-196428211;C/T missense_variant False KCNV2@p.Q225Rfs*95 1 0.2 ENSG00000168263 chr9:2718409-2718409;GCGCAGGT/G frameshift_variant False KCTD8@p.R461H 1 0.451 ENSG00000183783 chr4:44174830-44174830;C/T missense_variant False KDM3B@p.P675S 1 0.451 ENSG00000120733 chr5:138391655-138391655;C/T missense_variant False KDM4D@p.R455C 1 0.423 ENSG00000186280 chr11:94998735-94998735;C/T missense_variant False KDM5A@p.T1292S 1 0.005543 ENSG00000073614 chr12:307509-307509;G/C missense_variant False KDM5A@p.T1580S 1 0.231 ENSG00000073614 chr12:292887-292887;T/A missense_variant False KDM5C@p.R705C 1 0.667 ENSG00000126012 chrX:53199107-53199107;G/A missense_variant True KDM7A@p.C82S 1 0.1 ENSG00000006459 chr7:140139140-140139140;C/G missense_variant False KDM7A@p.R924C 1 0.798 ENSG00000006459 chr7:140091150-140091150;G/A missense_variant False KDM8@p.V206L 1 0.141 ENSG00000155666 chr16:27213702-27213702;G/C missense_variant False KDR@p.R1066H 1 0.464 ENSG00000128052 chr4:55089798-55089798;C/T missense_variant False KIAA0319L@p.S269Vfs*38 1 0.605 ENSG00000142687 chr1:35479073-35479073;CT/C frameshift_variant False KIAA0586@p.K580E 1 0.114 ENSG00000100578 chr14:58459924-58459924;A/G missense_variant False KIAA1549@p.A915S 1 0.094 ENSG00000122778 chr7:138916883-138916883;C/A missense_variant False KIAA1549@p.E613K 1 0.211 ENSG00000122778 chr7:138917789-138917789;C/T missense_variant False KIAA1549@p.I561T 1 0.3 ENSG00000122778 chr7:138917944-138917944;A/G missense_variant False KIAA1841@p.N639T 1 0.4 None chr2:61117517-61117517;A/C missense_variant False KIAA2012@p.K86E 1 0.053 ENSG00000182329 chr2:202075062-202075062;A/G missense_variant False KIF14@p.I980M 1 0.115 ENSG00000118193 chr1:200590146-200590146;T/C missense_variant False KIF18A@p.H537Lfs*16 1 0.068 ENSG00000121621 chr11:28062496-28062496;ATG/A frameshift_variant False KIF1A@p.R216Tfs*24 1 0.029 ENSG00000130294 chr2:240785056-240785056;TGGGAGCG/T frameshift_variant False KCNQ2@p.E412Dfs*6 1 0.133 ENSG00000075043 chr20:63424188-63424188;C/CA frameshift_variant False KCNK1@p.R277K 1 0.12 ENSG00000135750 chr1:233671349-233671349;G/A missense_variant False KIF20A@p.K846R 1 0.101 ENSG00000112984 chr5:138187277-138187277;A/G missense_variant False KCNK10@p.T353M 1 0.492 ENSG00000100433 chr14:88186109-88186109;G/A missense_variant False JPH1@p.G45Yfs*119 1 0.467 ENSG00000104369 chr8:74321155-74321155;C/CTTTTGAGCATGGAATTTAGTTATATA frameshift_variant False KANK2@p.P390A 1 0.189 ENSG00000197256 chr19:11192912-11192912;G/C missense_variant False KANK2@p.R337G 1 1.0 ENSG00000197256 chr19:11193071-11193071;G/C missense_variant False KANSL1@p.N47K 1 0.101 ENSG00000120071 chr17:46172003-46172003;G/T missense_variant False KAT6A@p.P936T 1 0.213 ENSG00000083168 chr8:41941075-41941075;G/T missense_variant False KAT6A@p.Q1487_S1488insCNM 1 0.286 ENSG00000083168 chr8:41933757-41933757;G/GACATGTTGC inframe_insertion False KCNA1@p.Y94C 1 0.108 ENSG00000111262 chr12:4911659-4911659;A/G missense_variant False KCNA2@p.R65Q 1 0.253 ENSG00000177301 chr1:110604589-110604589;C/T missense_variant False KCNA4@p.Y153H 1 0.042 ENSG00000182255 chr11:30012222-30012222;A/G missense_variant False KCNA5@p.K555E 1 0.357 ENSG00000130037 chr12:5045810-5045810;A/G missense_variant False KCNA7@p.C421G 1 0.176 ENSG00000104848 chr19:49070173-49070173;A/C missense_variant False KCNC2@p.T268K 1 0.183 ENSG00000166006 chr12:75051202-75051202;G/T missense_variant False KCNC2@p.T268S 1 0.178 ENSG00000166006 chr12:75051203-75051203;T/A missense_variant False KCNC3@p.A463T 1 0.487 ENSG00000131398 chr19:50323566-50323566;C/T missense_variant False KCND2@p.L45R 1 0.188 ENSG00000184408 chr7:120274766-120274766;T/G missense_variant False KCND2@p.T180N 1 0.207 ENSG00000184408 chr7:120275171-120275171;C/A missense_variant False KCND3@p.F74V 1 0.21 ENSG00000171385 chr1:111982507-111982507;A/C missense_variant False KCNE2@p.F119L 1 0.031 ENSG00000159197 chr21:34370835-34370835;C/A missense_variant False KCNE4@p.S214P 1 0.073 ENSG00000152049 chr2:223053317-223053317;T/C missense_variant False KCNH1@p.I629S 1 0.124 ENSG00000143473 chr1:210797537-210797537;A/C missense_variant False KCNH4@p.P139S 1 0.4 ENSG00000089558 chr17:42178373-42178373;G/A missense_variant False KCNH8@p.R166Q 1 0.29 ENSG00000183960 chr3:19342641-19342641;G/A missense_variant False KCNJ15@p.Q232L 1 0.311 ENSG00000157551 chr21:38299956-38299956;A/T missense_variant False KCNJ1@p.E219G 1 0.036 ENSG00000151704 chr11:128839588-128839588;T/C missense_variant False KCNJ1@p.S153C 1 0.344 ENSG00000151704 chr11:128839786-128839786;G/C missense_variant False KIF1C@p.V557A 1 0.75 ENSG00000129250 chr17:5019999-5019999;T/C missense_variant False KIF20B@p.L553F 1 0.28 ENSG00000138182 chr10:89719641-89719641;C/T missense_variant False JPH1@p.G136Wfs*67 1 0.118 ENSG00000104369 chr8:74315594-74315594;C/CA frameshift_variant False KMT2A@p.T953Nfs*45 1 0.5 ENSG00000118058 chr11:118474015-118474015;T/TA frameshift_variant False KNDC1@p.G1381D 1 0.231 ENSG00000171798 chr10:133211764-133211764;G/A missense_variant False KNDC1@p.H597Q 1 0.089 ENSG00000171798 chr10:133197114-133197114;C/A missense_variant False KNTC1@p.R75K 1 0.095 ENSG00000184445 chr12:122534758-122534758;G/A missense_variant False KRBA1@p.E567Dfs*13 1 0.15 ENSG00000133619 chr7:149728646-149728646;A/ATT frameshift_variant False KRI1@p.R188C 1 0.273 ENSG00000129347 chr19:10561192-10561192;G/A missense_variant False KRT12@p.R13H 1 0.103 ENSG00000187242 chr17:40867149-40867149;C/T missense_variant False KRT18@p.M84Afs*76 1 0.148 ENSG00000111057 chr12:52949421-52949421;C/CGGCGCGATCTCGG frameshift_variant False KRT25@p.S6A 1 0.109 ENSG00000204897 chr17:40755256-40755256;A/C missense_variant False KRT31@p.Q335L 1 0.017 ENSG00000094796 chr17:41394941-41394941;T/A missense_variant False KRT40@p.E245Afs*14 1 0.027 ENSG00000204889 chr17:40981105-40981105;T/TGTGCATTTCAAAATAG frameshift_variant False KRT73@p.R229H 1 0.314 ENSG00000186049 chr12:52615316-52615316;C/T missense_variant False KRT76@p.Q455R 1 0.132 ENSG00000185069 chr12:52771119-52771119;T/C missense_variant False KRT77@p.V389I 1 0.384 ENSG00000189182 chr12:52692796-52692796;C/T missense_variant False KRT78@p.L173Q 1 0.138 ENSG00000170423 chr12:52847988-52847988;A/T missense_variant False KRT83@p.A204Gfs*28 1 0.155 ENSG00000170523 chr12:52317953-52317953;G/GTCGGGGATCCCATGGGGGGATCTGTGCCCACCATGGCTGAGAGC frameshift_variant False KRT83@p.R149H 1 0.096 ENSG00000170523 chr12:52319303-52319303;C/T missense_variant False KRT9@p.E331D 1 0.402 ENSG00000171403 chr17:41569477-41569477;C/A missense_variant False KRT9@p.Q332E 1 0.401 ENSG00000171403 chr17:41569476-41569476;G/C missense_variant False KRTAP1-3@p.E31_C40dup 1 0.205 ENSG00000221880 chr17:41034702-41034702;G/GCAGCAGCTTGGCTGACAGCAGCTGGTCTCA inframe_insertion False KRTAP10-8@p.C46Gfs*36 1 0.162 ENSG00000187766 chr21:44612235-44612235;T/TGGGTA frameshift_variant False KRTAP10-8@p.Q47Lfs*31 1 0.162 ENSG00000187766 chr21:44612237-44612237;G/GTCTCTATCAGCAGTGTGAAAATGGACTAATACAGGGGCAT frameshift_variant False KRTAP10-8@p.V179D 1 0.4 ENSG00000187766 chr21:44612636-44612636;T/A missense_variant False KRTAP10-9@p.V247I 1 0.028 ENSG00000221837 chr21:44627910-44627910;G/A missense_variant False KRTAP12-2@p.C2F 1 0.714 ENSG00000221864 chr21:44666882-44666882;C/A missense_variant False KRTAP19-4@p.S6R 1 0.107 ENSG00000186967 chr21:30497093-30497093;G/T missense_variant False KMT2B@p.R295C 1 0.348 ENSG00000272333 chr19:35720230-35720230;C/T missense_variant False KMT2A@p.S3868_I3869insWS 1 0.643 ENSG00000118058 chr11:118521375-118521375;C/CAGTTGG inframe_insertion False KIF21A@p.Q19P 1 0.102 ENSG00000139116 chr12:39370250-39370250;T/G missense_variant False KMT2A@p.R3867Hfs*37 1 0.64 ENSG00000118058 chr11:118521373-118521373;C/CACTTAAAAAAGACTTCTAAGGAG frameshift_variant False KIF21A@p.T32K 1 0.769 ENSG00000139116 chr12:39370211-39370211;G/T missense_variant False KIF23@p.A169V 1 0.108 ENSG00000137807 chr15:69422378-69422378;C/T missense_variant False KIF26B@p.C770Sfs*18 1 0.151 ENSG00000162849 chr1:245684282-245684282;T/TCCTTTCTCCTGATCCCCTCCTCTTGTTTCTATTCCCAG frameshift_variant False KIF27@p.V133E 1 0.231 ENSG00000165115 chr9:83908553-83908553;A/T missense_variant False KIF3A@p.R20K 1 0.208 ENSG00000131437 chr5:132734426-132734426;C/T missense_variant False KIF5B@p.K150M 1 0.8 ENSG00000170759 chr10:32038212-32038212;T/A missense_variant False KIFC1@p.E570A 1 0.108 ENSG00000237649 chr6:33406368-33406368;A/C missense_variant False KIRREL1@p.E612K 1 0.088 ENSG00000183853 chr1:158094680-158094680;G/A missense_variant False KLC3@p.N415S 1 0.085 ENSG00000104892 chr19:45350523-45350523;A/G missense_variant False KLF11@p.A146T 1 0.065 ENSG00000172059 chr2:10047773-10047773;G/A missense_variant False KLF17@p.M38K 1 0.181 ENSG00000171872 chr1:44129384-44129384;T/A missense_variant False KLF5@p.R454K 1 0.857 ENSG00000102554 chr13:73075873-73075873;G/A missense_variant False KLHDC2@p.R268L 1 0.64 ENSG00000165516 chr14:49780242-49780242;G/T missense_variant False KLHDC9@p.W15Lfs*14 1 0.571 ENSG00000162755 chr1:161098574-161098574;A/AG frameshift_variant False KLHL17@p.A269T 1 0.064 ENSG00000187961 chr1:962448-962448;G/A missense_variant False KLHL1@p.K70R 1 0.281 ENSG00000150361 chr13:70107491-70107491;T/C missense_variant False KLHL1@p.S185Y 1 0.056 ENSG00000150361 chr13:69975746-69975746;G/T missense_variant False KLHL26@p.R498C 1 0.082 ENSG00000167487 chr19:18668889-18668889;C/T missense_variant False KLHL42@p.C399Vfs*43 1 0.071 ENSG00000087448 chr12:27797835-27797835;T/TG frameshift_variant False KLHL9@p.C92S 1 0.392 ENSG00000198642 chr9:21334586-21334586;A/T missense_variant False KLK6@p.E186Q 1 0.046 ENSG00000167755 chr19:50961770-50961770;C/G missense_variant False KLRG1@p.P148L 1 0.333 ENSG00000139187 chr12:9009060-9009060;C/T missense_variant False KLRG1@p.R142S 1 0.381 ENSG00000139187 chr12:9009043-9009043;G/C missense_variant False KMT2A@p.H3166Qfs*10 1 0.147 ENSG00000118058 chr11:118505389-118505389;A/AG frameshift_variant False KMT2A@p.Q3790P 1 0.455 ENSG00000118058 chr11:118520004-118520004;A/C missense_variant False JPH1@p.G45Vfs*68 1 0.467 ENSG00000104369 chr8:74321154-74321154;C/CA frameshift_variant False JPH1@p.G136Dfs*24 1 0.118 ENSG00000104369 chr8:74315593-74315593;C/CTTTGTTGATTGTGT frameshift_variant False KRTAP4-4@p.P48R 1 0.194 ENSG00000171396 chr17:41160549-41160549;G/C missense_variant False IGDCC4@p.G76E 1 0.179 ENSG00000103742 chr15:65411214-65411214;C/T missense_variant False IGF2BP1@p.N236Cfs*37 1 0.079 ENSG00000159217 chr17:49039978-49039978;G/GTGTACTCAGTGGCAAAGAACAGGTCATATTATGTCCTT frameshift_variant False IGF2BP2@p.E303K 1 0.21 ENSG00000073792 chr3:185675819-185675819;C/T missense_variant False IGF2R@p.C519R 1 0.625 ENSG00000197081 chr6:160043222-160043222;T/C missense_variant False IGF2R@p.K2034E 1 0.244 ENSG00000197081 chr6:160085026-160085026;A/G missense_variant False IGFALS@p.F94C 1 0.1 ENSG00000099769 chr16:1792137-1792137;A/C missense_variant False IGFBP1@p.N250Pfs*19 1 0.306 ENSG00000146678 chr7:45893057-45893057;C/CTCCCCTGACATCAGGCTATGAAGCAGACAGCTGTACA frameshift_variant False IGFBP1@p.P249Rfs*8 1 0.297 ENSG00000146678 chr7:45893056-45893056;C/CG frameshift_variant False IGFN1@p.A2040G 1 0.12 ENSG00000163395 chr1:201211012-201211012;C/G missense_variant False IGFN1@p.K1959E 1 0.143 ENSG00000163395 chr1:201210768-201210768;A/G missense_variant False IGFN1@p.Q2455R 1 0.347 ENSG00000163395 chr1:201212257-201212257;A/G missense_variant False IGSF21@p.L419Q 1 0.126 ENSG00000117154 chr1:18376954-18376954;T/A missense_variant False IGSF22@p.V359L 1 0.068 ENSG00000179057 chr11:18716899-18716899;C/A missense_variant False IGSF5@p.K226N 1 1.0 ENSG00000183067 chr21:39771175-39771175;G/C missense_variant False IGSF9@p.P1036H 1 0.617 ENSG00000085552 chr1:159928281-159928281;G/T missense_variant False IGSF9B@p.E875K 1 0.298 ENSG00000080854 chr11:133921102-133921102;C/T missense_variant False IHH@p.H354N 1 0.136 ENSG00000163501 chr2:219055383-219055383;G/T missense_variant False IKZF3@p.D121N 1 0.048 ENSG00000161405 chr17:39792736-39792736;C/T missense_variant False IKZF3@p.L178H 1 0.214 ENSG00000161405 chr17:39791475-39791475;A/T missense_variant False IKZF3@p.V335F 1 0.16 ENSG00000161405 chr17:39766317-39766317;C/A missense_variant False IL17RD@p.L381F 1 0.19 ENSG00000144730 chr3:57101202-57101202;G/A missense_variant False IL1RAPL2@p.E137K 1 0.073 ENSG00000189108 chrX:105233870-105233870;G/A missense_variant False IL1RAPL2@p.F444L 1 0.233 ENSG00000189108 chrX:105755316-105755316;C/G missense_variant False IL1RAPL2@p.N136K 1 0.073 ENSG00000189108 chrX:105233869-105233869;T/A missense_variant False IL1RAPL2@p.P264L 1 0.127 ENSG00000189108 chrX:105717385-105717385;C/T missense_variant False IL21@p.M36I 1 0.316 ENSG00000138684 chr4:122620904-122620904;C/T missense_variant False IGF1R@p.R406H 1 0.138 ENSG00000140443 chr15:98899591-98899591;G/A missense_variant False IFT80@p.S425I 1 0.432 ENSG00000068885 chr3:160300924-160300924;C/A missense_variant False IL27RA@p.P38_L39insSAWAALPH 1 0.103 ENSG00000104998 chr19:14032399-14032399;A/ATCAGCTTGGGCGGCCCTTCCTCAT inframe_insertion False IFT172@p.H171L 1 0.353 ENSG00000138002 chr2:27483347-27483347;T/A missense_variant False HRH3@p.E441Q 1 0.714 ENSG00000101180 chr20:62216023-62216023;C/G missense_variant False HRNR@p.H322N 1 0.039 ENSG00000197915 chr1:152220665-152220665;G/T missense_variant False HS3ST3B1@p.P27T 1 0.2 ENSG00000125430 chr17:14301597-14301597;C/A missense_variant False HSD17B13@p.P218S 1 0.7 ENSG00000170509 chr4:87313866-87313866;G/A missense_variant False HSD17B4@p.A193D 1 0.103 ENSG00000133835 chr5:119478977-119478977;C/A missense_variant False HSD17B4@p.I399V 1 0.147 ENSG00000133835 chr5:119499539-119499539;A/G missense_variant False HSD17B4@p.K735Nfs*31 1 0.077 ENSG00000133835 chr5:119541987-119541987;A/ACT frameshift_variant False HSD17B4@p.L736F 1 0.077 ENSG00000133835 chr5:119541989-119541989;C/T missense_variant False HSF4@p.L192V 1 0.537 ENSG00000102878 chr16:67166570-67166570;C/G missense_variant False HSH2D@p.H99Tfs*23 1 0.292 ENSG00000196684 chr19:16153119-16153119;GC/G frameshift_variant False HSPA5@p.K353N 1 0.114 ENSG00000044574 chr9:125238765-125238765;C/G missense_variant False HTR1A@p.F407I 1 0.749 ENSG00000178394 chr5:63960501-63960501;A/T missense_variant False HTR1E@p.L94F 1 0.181 ENSG00000168830 chr6:87015614-87015614;C/T missense_variant False HTR2C@p.I217F 1 0.091 ENSG00000147246 chrX:114906687-114906687;A/T missense_variant False HTT@p.T2725I 1 0.183 ENSG00000197386 chr4:3229951-3229951;C/T missense_variant False HUWE1@p.Q2310R 1 0.146 ENSG00000086758 chrX:53564674-53564674;T/C missense_variant False HUWE1@p.V3690_V3691insFFQSHGTMQ 1 0.375 ENSG00000086758 chrX:53544741-53544741;C/CTGCATTGTTCCATGGGACTGAAAAAAA inframe_insertion False HYDIN@p.V3477L 1 0.167 ENSG00000157423 chr16:70879425-70879425;C/A missense_variant False IARS1@p.Y283D 1 0.2 ENSG00000196305 chr9:92277910-92277910;A/C missense_variant False IARS2@p.I837T 1 0.121 ENSG00000067704 chr1:220141898-220141898;T/C missense_variant False ICE1@p.S687P 1 0.032 ENSG00000164151 chr5:5461393-5461393;T/C missense_variant False IDO1@p.P110S 1 0.25 ENSG00000131203 chr8:39918839-39918839;C/T missense_variant False IDO1@p.S205Lfs*54 1 0.098 ENSG00000131203 chr8:39923542-39923542;C/CACTTTGGGAGGCTGAAGTGGGCGGA frameshift_variant False IFI35@p.L95Sfs*66 1 0.056 ENSG00000068079 chr17:43013280-43013280;G/GTCCAGAATAGGCCCCCCTTCCCCTGGGCTTGTTGATT frameshift_variant False IFT172@p.A780V 1 0.159 ENSG00000138002 chr2:27461372-27461372;G/A missense_variant False IL21R@p.E457Dfs*111 1 0.273 ENSG00000103522 chr16:27449036-27449036;A/ACATCTGCAATCCCAGCACTTTGGGAGGCCAAAGCAAGT frameshift_variant False IL34@p.Q189_D190insFSPGQG 1 0.057 ENSG00000157368 chr16:70660024-70660024;A/AGTTTTCCCCAGGTCAGGG inframe_insertion False JMJD1C@p.A1488S 1 0.659 ENSG00000171988 chr10:63207207-63207207;C/A missense_variant False IRF8@p.G212_G213insISPEYQS 1 0.073 ENSG00000140968 chr16:85918451-85918451;G/GATTTCCCCAGAATATCAAAGT inframe_insertion False ISM2@p.N208T 1 0.073 ENSG00000100593 chr14:77484327-77484327;T/G missense_variant False ISM2@p.R473C 1 0.397 ENSG00000100593 chr14:77475894-77475894;G/A missense_variant False ITGA10@p.Q545Pfs*14 1 0.036 ENSG00000143127 chr1:145900947-145900947;T/TG frameshift_variant False ITGA1@p.C550Y 1 0.333 ENSG00000213949 chr5:52910211-52910211;G/A missense_variant False ITGA8@p.A525Ifs*29 1 0.286 ENSG00000077943 chr10:15608273-15608273;CAT/C frameshift_variant False ITGA8@p.E347D 1 0.044 ENSG00000077943 chr10:15647012-15647012;T/G missense_variant False ITGAL@p.L805P 1 0.402 ENSG00000005844 chr16:30506762-30506762;T/C missense_variant False ITGB3@p.P771Q 1 0.111 ENSG00000259207 chr17:47310149-47310149;C/A missense_variant False ITGB4@p.R5C 1 0.044 ENSG00000132470 chr17:75724716-75724716;C/T missense_variant False ITGB5@p.L709Qfs*26 1 0.2 ENSG00000082781 chr3:124766237-124766237;A/AGGACGGTCAGGTT frameshift_variant False ITIH2@p.N441I 1 0.31 ENSG00000151655 chr10:7729994-7729994;A/T missense_variant False ITIH5@p.V244_Q245insNVRIFHIRYISN 1 0.111 ENSG00000123243 chr10:7617202-7617202;G/GGTTTGAAATGTATCGTATATGAAAGATTCTGACATT inframe_insertion False ITIH6@p.L1201V 1 0.154 ENSG00000102313 chrX:54751132-54751132;G/C missense_variant False ITPR2@p.L1400I 1 0.534 ENSG00000123104 chr12:26596939-26596939;G/T missense_variant False ITPR3@p.H2638_L2639insSGPGEDQVNSDFPMTH 1 0.929 ENSG00000096433 chr6:33695052-33695052;C/CTCTGGCCCCGGGGAGGACCAGGTCAATTCAGATTTTCCCATGACACAT inframe_insertion False ITSN1@p.K1407Yfs*3 1 0.047 ENSG00000205726 chr21:33875398-33875398;G/GTATTTTT frameshift_variant False ITSN1@p.K1427Q 1 0.045 ENSG00000205726 chr21:33875459-33875459;A/C missense_variant False ITSN2@p.D600G 1 0.37 ENSG00000198399 chr2:24286276-24286276;T/C missense_variant False ITSN2@p.R1272W 1 0.083 ENSG00000198399 chr2:24216225-24216225;G/A missense_variant False IVL@p.Q106K 1 0.266 ENSG00000163207 chr1:152910113-152910113;C/A missense_variant False IVL@p.V407E 1 0.135 ENSG00000163207 chr1:152911017-152911017;T/A missense_variant False IZUMO1@p.P18S 1 0.151 ENSG00000182264 chr19:48745808-48745808;G/A missense_variant False JADE3@p.A382T 1 0.091 ENSG00000102221 chrX:47054329-47054329;G/A missense_variant False JAK2@p.L375F 1 0.105 ENSG00000096968 chr9:5064951-5064951;A/C missense_variant True JAKMIP1@p.T389M 1 0.1 ENSG00000152969 chr4:6080248-6080248;G/A missense_variant False IRF9@p.C152S 1 0.286 ENSG00000213928 chr14:24163467-24163467;T/A missense_variant False IRF2BP1@p.A115V 1 0.057 ENSG00000170604 chr19:45885431-45885431;G/A missense_variant False IL36G@p.D7G 1 0.137 ENSG00000136688 chr2:112978658-112978658;A/G missense_variant False IRAK4@p.R361S 1 0.071 ENSG00000198001 chr12:43782446-43782446;C/A missense_variant False IL4I1@p.R365S 1 0.227 ENSG00000104951 chr19:49890281-49890281;G/T missense_variant False IMMT@p.E200A 1 0.081 ENSG00000132305 chr2:86170805-86170805;T/G missense_variant False IMP3@p.D181H 1 0.161 ENSG00000177971 chr15:75639628-75639628;C/G missense_variant False IMPACT@p.L305F 1 0.167 ENSG00000154059 chr18:24450799-24450799;G/C missense_variant False IMPG1@p.T734R 1 0.545 ENSG00000112706 chr6:75930995-75930995;G/C missense_variant False INCENP@p.S357Qfs*19 1 0.875 ENSG00000149503 chr11:62137836-62137836;C/CCAACATGGTGAAACCCTGTCTCTATTAAAAATACA frameshift_variant False ING4@p.E8K 1 0.15 ENSG00000111653 chr12:6663080-6663080;C/T missense_variant False INMT@p.A104Pfs*5 1 0.06 ENSG00000241644 chr7:30753885-30753885;G/GCCTGTAT frameshift_variant False INPP4B@p.S261C 1 0.182 ENSG00000109452 chr4:142237918-142237918;G/C missense_variant False INPP5D@p.I422_T423insL 1 0.128 ENSG00000168918 chr2:233163732-233163732;C/CTTG inframe_insertion False INPP5D@p.V50I 1 0.409 ENSG00000168918 chr2:233079348-233079348;G/A missense_variant False INSL5@p.S127A 1 0.583 ENSG00000172410 chr1:66798042-66798042;A/C missense_variant False INSR@p.C311Sfs*4 1 0.5 ENSG00000171105 chr19:7184358-7184358;C/CG frameshift_variant False INSR@p.C311Tfs*23 1 0.571 ENSG00000171105 chr19:7184359-7184359;A/AGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGT frameshift_variant False INTS2@p.V961F 1 0.054 ENSG00000108506 chr17:61869886-61869886;C/A missense_variant False INTS6L@p.K527E 1 0.259 ENSG00000165359 chrX:135572995-135572995;A/G missense_variant False INTS8@p.S236I 1 0.006329 ENSG00000164941 chr8:94832128-94832128;G/T missense_variant False INTU@p.D747_G748insQVKTTLHQLDGVDS 1 0.096 ENSG00000164066 chr4:127706938-127706938;A/ATCAAGTCAAAACAACTCTTCACCAGCTGGATGGAGTAGATTC inframe_insertion False INVS@p.V35I 1 0.524 ENSG00000119509 chr9:100104624-100104624;G/A missense_variant False IPO13@p.C848R 1 0.146 ENSG00000117408 chr1:43966948-43966948;T/C missense_variant False IQCA1@p.F246C 1 0.069 ENSG00000132321 chr2:236465694-236465694;A/C missense_variant False IQCE@p.R173C 1 0.07 ENSG00000106012 chr7:2578293-2578293;C/T missense_variant False IQGAP2@p.K876E 1 0.073 ENSG00000145703 chr5:76665122-76665122;A/G missense_variant False IRAK1@p.H210Qfs*29 1 0.167 ENSG00000184216 chrX:154018698-154018698;G/GGGGACACGTTCAATAGAATCTGC frameshift_variant False IRAK1@p.P292T 1 0.172 ENSG00000184216 chrX:154018041-154018041;G/T missense_variant False KRTAP29-1@p.S36N 1 0.191 ENSG00000212658 chr17:41302745-41302745;C/T missense_variant False KRTAP4-7@p.L121Q 1 0.06 ENSG00000240871 chr17:41084568-41084568;T/A missense_variant False HRH2@p.I29Kfs*27 1 0.186 ENSG00000113749 chr5:175683318-175683318;A/AAAAAGAGGTATCCAAACTGGTCCCATACT frameshift_variant False MAP3K5@p.R298T 1 0.424 ENSG00000197442 chr6:136697301-136697301;C/G missense_variant False MAP3K9@p.K502N 1 0.063 ENSG00000006432 chr14:70742412-70742412;C/A missense_variant False MAP3K9@p.P1006S 1 0.185 ENSG00000006432 chr14:70730679-70730679;G/A missense_variant False MAP4K3@p.A880T 1 0.088 ENSG00000011566 chr2:39250665-39250665;C/T missense_variant False MAP7@p.E595Q 1 0.211 ENSG00000135525 chr6:136360717-136360717;C/G missense_variant False MAPK8IP1@p.T595A 1 0.096 ENSG00000121653 chr11:45904724-45904724;A/G missense_variant False MAPK9@p.E126D 1 0.047 ENSG00000050748 chr5:180261756-180261756;T/A missense_variant False MAPKAPK5@p.W270R 1 0.167 ENSG00000089022 chr12:111883728-111883728;T/A missense_variant False MARCHF10@p.G593R 1 0.094 ENSG00000173838 chr17:62736091-62736091;C/T missense_variant False MARCHF3@p.G137Afs*19 1 0.115 ENSG00000173926 chr5:126878377-126878377;GC/G frameshift_variant False MARVELD3@p.A7T 1 0.3 ENSG00000140832 chr16:71626248-71626248;G/A missense_variant False MASP1@p.I509Afs*47 1 0.054 ENSG00000127241 chr3:187236346-187236346;T/TGC frameshift_variant False MASP1@p.V508Efs*22 1 0.054 ENSG00000127241 chr3:187236348-187236348;A/AGCACAGAACATGTTCT frameshift_variant False MAST4@p.S592F 1 0.236 ENSG00000069020 chr5:67130239-67130239;C/T missense_variant False MATN2@p.R126Lfs*13 1 0.048 ENSG00000132561 chr8:97931185-97931185;G/GCTTGGCTC frameshift_variant False MATN3@p.I478K 1 0.167 ENSG00000132031 chr2:19993139-19993139;A/T missense_variant False MATN4@p.E494Nfs*148 1 0.263 ENSG00000124159 chr20:45298017-45298017;C/CTGAAAGAGCCACAATAATTAGAATT frameshift_variant False MAU2@p.L497Hfs*60 1 0.316 ENSG00000129933 chr19:19349377-19349377;C/CACAGGCAGGGCTGGCTGAGGGTGTGGAAATCT frameshift_variant False MAVS@p.R43Q 1 0.163 ENSG00000088888 chr20:3857645-3857645;G/A missense_variant False MBOAT1@p.Y188Sfs*15 1 0.081 ENSG00000172197 chr6:20126670-20126670;A/ATGAG frameshift_variant False MC4R@p.L44P 1 0.243 ENSG00000166603 chr18:60372219-60372219;A/G missense_variant False MC5R@p.M87K 1 0.259 ENSG00000176136 chr18:13826025-13826025;T/A missense_variant False MCAM@p.L394S 1 0.333 ENSG00000076706 chr11:119311912-119311912;A/G missense_variant False MCAM@p.T242I 1 0.8 ENSG00000076706 chr11:119312784-119312784;G/A missense_variant False MCAM@p.V243Sfs*20 1 0.8 ENSG00000076706 chr11:119312782-119312782;CG/C frameshift_variant False MCM3@p.K662N 1 0.123 ENSG00000112118 chr6:52267951-52267951;C/A missense_variant False MAP3K8@p.L16V 1 0.192 ENSG00000107968 chr10:30438984-30438984;T/G missense_variant False MAP3K21@p.V939D 1 0.459 ENSG00000143674 chr1:233382416-233382416;T/A missense_variant False MCM3AP@p.S483Efs*27 1 0.438 ENSG00000160294 chr21:46280572-46280572;A/AAGTTC frameshift_variant False MAP3K1@p.G756C 1 0.101 ENSG00000095015 chr5:56881169-56881169;G/T missense_variant True MAGEA6@p.Q8Vfs*43 1 0.094 ENSG00000221867 chrX:152767629-152767629;G/GCCCTTGGACCCCAC frameshift_variant False MAGEB3@p.V171G 1 0.764 ENSG00000198798 chrX:30236436-30236436;T/G missense_variant False MAGEB5@p.A4T 1 0.283 ENSG00000188408 chrX:26217311-26217311;G/A missense_variant False MAGEC3@p.L195P 1 0.214 ENSG00000165509 chrX:141881471-141881471;T/C missense_variant False MAGEC3@p.S390C 1 0.923 ENSG00000165509 chrX:141896926-141896926;A/T missense_variant False MAGED1@p.A652_E653insS 1 0.058 ENSG00000179222 chrX:51900293-51900293;A/ATCT inframe_insertion False MAGI3@p.G35S 1 0.068 ENSG00000081026 chr1:113391136-113391136;G/A missense_variant False MAJIN@p.W109Yfs*17 1 0.333 ENSG00000168070 chr11:64949768-64949768;T/TCCTGGACCAGGTAC frameshift_variant False MALL@p.Q56E 1 0.079 ENSG00000144063 chr2:110091710-110091710;G/C missense_variant False MALRD1@p.M1067Nfs*5 1 0.789 ENSG00000204740 chr10:19280160-19280160;G/GA frameshift_variant False MALSU1@p.H136D 1 0.061 ENSG00000156928 chr7:23300988-23300988;C/G missense_variant False MALSU1@p.H136Mfs*8 1 0.256 ENSG00000156928 chr7:23300987-23300987;AC/A frameshift_variant False MAML1@p.P359S 1 0.363 ENSG00000161021 chr5:179766085-179766085;C/T missense_variant False MAML3@p.Q499Afs*23 1 0.036 ENSG00000196782 chr4:139889928-139889928;TGCTGCTGCTGCTGC/T frameshift_variant False MAML3@p.Q503Hfs*19 1 0.036 ENSG00000196782 chr4:139889926-139889926;GC/G frameshift_variant False MAML3@p.S1007C 1 0.274 ENSG00000196782 chr4:139719721-139719721;T/A missense_variant False MAMLD1@p.A18S 1 0.19 ENSG00000013619 chrX:150445568-150445568;G/T missense_variant False MAN1C1@p.Q187K 1 0.172 ENSG00000117643 chr1:25686458-25686458;C/A missense_variant False MAN2B1@p.L363_N364insCIFSRDGVSP 1 0.209 ENSG00000104774 chr19:12658448-12658448;C/CGGTGAAACCCCGTCTCTACTAAAAATACAA inframe_insertion False MAN2B1@p.P595Qfs*18 1 0.125 ENSG00000104774 chr19:12655740-12655740;G/GACCTTCCCTGAAACGTCCCT frameshift_variant False MAN2B1@p.Q594Hfs*14 1 0.128 ENSG00000104774 chr19:12655742-12655742;C/CCAAAA frameshift_variant False MAP1S@p.S62Afs*41 1 0.182 ENSG00000130479 chr19:17721000-17721000;G/GGCTTTGT frameshift_variant False MAP3K10@p.R178Gfs*5 1 0.098 ENSG00000130758 chr19:40192560-40192560;GC/G frameshift_variant False MAP3K13@p.R188L 1 0.242 ENSG00000073803 chr3:185437534-185437534;G/T missense_variant False MAP3K13@p.V955A 1 0.12 ENSG00000073803 chr3:185482419-185482419;T/C missense_variant False MCM3AP@p.N1876T 1 0.35 ENSG00000160294 chr21:46240817-46240817;T/G missense_variant False MCM7@p.A70D 1 0.198 ENSG00000166508 chr7:100099656-100099656;G/T missense_variant False MAFB@p.E223Kfs*43 1 0.222 ENSG00000204103 chr20:40688185-40688185;G/GGGATCTGTTTTCCTTTCCTTTC frameshift_variant False MFHAS1@p.R636_R637insGGGGKLPAHGAV 1 0.152 ENSG00000147324 chr8:8891150-8891150;G/GGACCGCGCCATGGGCGGGGAGCTTTCCCCCTCCGCC inframe_insertion False MFSD13A@p.D273_L274delinsV 1 0.044 ENSG00000138111 chr10:102471385-102471385;GACC/G inframe_deletion False MFSD4A@p.P162T 1 0.015 ENSG00000174514 chr1:205580715-205580715;C/A missense_variant False MFSD8@p.L205Afs*12 1 0.083 ENSG00000164073 chr4:127939936-127939936;CAG/C frameshift_variant False MGAM@p.D2428Ifs*3 1 0.377 ENSG00000257335 chr7:142094470-142094470;TG/T frameshift_variant False MGAT2@p.V124L 1 0.122 ENSG00000168282 chr14:49621638-49621638;G/C missense_variant False MGAT4C@p.I181F 1 0.2 ENSG00000182050 chr12:85980185-85980185;T/A missense_variant False MIA2@p.Y997C 1 0.667 ENSG00000150527 chr14:39308560-39308560;A/G missense_variant False MIB1@p.R996H 1 0.065 ENSG00000101752 chr18:21864632-21864632;G/A missense_variant False MICAL3@p.K1643M 1 0.28 ENSG00000243156 chr22:17817733-17817733;T/A missense_variant False MICAL3@p.S1792I 1 0.094 ENSG00000243156 chr22:17816760-17816760;C/A missense_variant False MID2@p.H224_R225insG 1 0.286 ENSG00000080561 chrX:107841337-107841337;C/CGGG inframe_insertion False MID2@p.R225Pfs*15 1 0.286 ENSG00000080561 chrX:107841338-107841338;C/CCCAATTCCCCTAGTGA frameshift_variant False MIDEAS@p.S1054G 1 1.0 ENSG00000156030 chr14:73718983-73718983;T/C missense_variant False MIEF2@p.S424R 1 0.027 ENSG00000177427 chr17:18264671-18264671;C/G missense_variant False MIER2@p.L146F 1 0.306 ENSG00000105556 chr19:327190-327190;G/A missense_variant False MINAR1@p.R411H 1 0.035 ENSG00000169330 chr15:79457379-79457379;G/A missense_variant False AAAS@p.T384I 1 0.121 ENSG00000094914 chr12:53308465-53308465;G/A missense_variant False MKI67@p.K1275Q 1 0.462 ENSG00000148773 chr10:128108017-128108017;T/G missense_variant False MKI67@p.Q1462H 1 0.014 ENSG00000148773 chr10:128107454-128107454;T/A missense_variant False MKI67@p.R2998T 1 0.043 ENSG00000148773 chr10:128102847-128102847;C/G missense_variant False MKI67@p.S3028N 1 0.125 ENSG00000148773 chr10:128102757-128102757;C/T missense_variant False MKKS@p.S460C 1 0.112 ENSG00000285723 chr20:10405581-10405581;G/C missense_variant False MLH1@p.A42T 1 0.088 ENSG00000076242 chr3:36996626-36996626;G/A missense_variant True MLLT1@p.E364K 1 0.028 ENSG00000130382 chr19:6222141-6222141;C/T missense_variant False MLPH@p.K45N 1 0.154 ENSG00000115648 chr2:237510598-237510598;G/C missense_variant False MFHAS1@p.T774A 1 1.0 ENSG00000147324 chr8:8890739-8890739;T/C missense_variant False MFAP3L@p.A185Tfs*14 1 0.75 ENSG00000198948 chr4:169992055-169992055;C/CGATGAGGCGTCCGAGTCAGCGGCAGGGGAGT frameshift_variant False MCRS1@p.P89H 1 0.2 ENSG00000187778 chr12:49565551-49565551;G/T missense_variant False METTL4@p.Q28H 1 0.3 ENSG00000101574 chr18:2567133-2567133;C/A missense_variant False MCTP1@p.L461I 1 0.222 ENSG00000175471 chr5:94912946-94912946;G/T missense_variant False MCU@p.L146V 1 0.323 ENSG00000156026 chr10:72860467-72860467;C/G missense_variant False MDGA1@p.R775W 1 0.214 ENSG00000112139 chr6:37644575-37644575;G/A missense_variant False MDM4@p.A348Efs*33 1 0.125 ENSG00000198625 chr1:204549251-204549251;G/GAGATT frameshift_variant False MDM4@p.I349Afs*11 1 0.125 ENSG00000198625 chr1:204549252-204549252;C/CGGCATCCTTTGCTGAGTGCAAACAT frameshift_variant False MDN1@p.D4899N 1 0.188 ENSG00000112159 chr6:89661449-89661449;C/T missense_variant False MEAK7@p.H277P 1 0.138 ENSG00000140950 chr16:84486759-84486759;T/G missense_variant False MECOM@p.A177E 1 0.02 ENSG00000085276 chr3:169131512-169131512;G/T missense_variant False MECOM@p.A177_D178insT 1 0.02 ENSG00000085276 chr3:169131510-169131510;C/CAGT inframe_insertion False MECOM@p.A325T 1 0.857 ENSG00000085276 chr3:169122585-169122585;C/T missense_variant False MED13@p.E705Q 1 0.287 ENSG00000108510 chr17:61995220-61995220;C/G missense_variant False MED13@p.S481Y 1 0.487 ENSG00000108510 chr17:62011075-62011075;G/T missense_variant False MEF2A@p.Q426_P429del 1 0.13 ENSG00000068305 chr15:99712527-99712527;AGCAGCAGCAGCC/A inframe_deletion False MEGF8@p.A507P 1 0.19 ENSG00000105429 chr19:42343482-42343482;G/C missense_variant False MEGF8@p.E2191Dfs*13 1 0.091 ENSG00000105429 chr19:42368933-42368933;A/AT frameshift_variant False MEGF8@p.T2192Sfs*25 1 0.094 ENSG00000105429 chr19:42368935-42368935;A/AGT frameshift_variant False MEIS3@p.P37L 1 0.143 ENSG00000105419 chr19:47417253-47417253;G/A missense_variant False MERTK@p.A708Efs*11 1 0.065 ENSG00000153208 chr2:112019453-112019453;T/TAGAGAAAACAC frameshift_variant False MERTK@p.A708Rfs*33 1 0.065 ENSG00000153208 chr2:112019454-112019454;T/TAGACTGTTGAAACTTATAG frameshift_variant False MET@p.A361V 1 0.257 ENSG00000105976 chr7:116700166-116700166;C/T missense_variant True MET@p.L1273Nfs*16 1 0.2 ENSG00000105976 chr7:116795672-116795672;C/CAATCGGAAGAGCACACGTCTGAACTCCAGTCACAT frameshift_variant True MET@p.P173S 1 0.267 ENSG00000105976 chr7:116699601-116699601;C/T missense_variant True MET@p.S290Y 1 0.258 ENSG00000105976 chr7:116699953-116699953;C/A missense_variant True MET@p.S308F 1 0.271 ENSG00000105976 chr7:116700007-116700007;C/T missense_variant True METTL2B@p.V195D 1 0.333 ENSG00000165055 chr7:128480672-128480672;T/A missense_variant False MAGEA12@p.P297Vfs*12 1 0.182 ENSG00000213401 chrX:152737048-152737048;G/GGGTCCGC frameshift_variant False MACF1@p.V3723M 1 0.15 ENSG00000127603 chr1:39350986-39350986;G/A missense_variant False KRTAP5-11@p.C111F 1 0.257 ENSG00000204571 chr11:71582506-71582506;C/A missense_variant False LAMP1@p.V168I 1 0.039 ENSG00000185896 chr13:113310807-113310807;G/A missense_variant False LARP1@p.G351Afs*31 1 0.091 ENSG00000155506 chr5:154793982-154793982;G/GCC frameshift_variant False LAT@p.A142T 1 0.176 ENSG00000213658 chr16:28986824-28986824;G/A missense_variant False LCE2B@p.A38D 1 0.076 ENSG00000159455 chr1:152686956-152686956;C/A missense_variant False LCE3A@p.G77E 1 0.291 ENSG00000185962 chr1:152622874-152622874;C/T missense_variant False LCE6A@p.P12Q 1 0.659 ENSG00000235942 chr1:152843555-152843555;C/A missense_variant False LCN12@p.Q40H 1 0.079 ENSG00000184925 chr9:136952897-136952897;G/T missense_variant False LCN2@p.A60V 1 0.093 ENSG00000148346 chr9:128150278-128150278;C/T missense_variant False LDB2@p.F199V 1 0.093 ENSG00000169744 chr4:16585942-16585942;A/C missense_variant False LDLRAD1@p.T74_L75insSRPHGFDAPV 1 0.667 ENSG00000203985 chr1:54012261-54012261;T/TACTGGAGCATCAAAGCCATGGGGACGTGAA inframe_insertion False LGALS3BP@p.F566L 1 0.104 ENSG00000108679 chr17:78971636-78971636;G/T missense_variant False LGR5@p.D247V 1 0.567 ENSG00000139292 chr12:71559609-71559609;A/T missense_variant False LGR5@p.G28A 1 0.259 ENSG00000139292 chr12:71440163-71440163;G/C missense_variant False LHCGR@p.S319A 1 0.333 ENSG00000138039 chr2:48688842-48688842;A/C missense_variant False LHX4@p.R159Q 1 0.676 ENSG00000121454 chr1:180271404-180271404;G/A missense_variant False LIG4@p.R814P 1 0.124 ENSG00000174405 chr13:108208828-108208828;C/G missense_variant False LILRA1@p.G152A 1 0.271 ENSG00000104974 chr19:54595196-54595196;G/C missense_variant False LILRA2@p.Q478E 1 0.072 ENSG00000239998 chr19:54587326-54587326;C/G missense_variant False LILRA4@p.P212S 1 0.056 ENSG00000239961 chr19:54337957-54337957;G/A missense_variant False LIMCH1@p.D289V 1 0.077 ENSG00000064042 chr4:41626848-41626848;A/T missense_variant False LIN28A@p.F47L 1 0.152 ENSG00000131914 chr1:26411493-26411493;T/C missense_variant False LINGO4@p.D528G 1 0.035 ENSG00000213171 chr1:151801122-151801122;T/C missense_variant False LINGO4@p.G156R 1 0.052 ENSG00000213171 chr1:151802239-151802239;C/G missense_variant False LIPC@p.I220Gfs*18 1 0.036 ENSG00000166035 chr15:58545823-58545823;C/CTGGACGTTCTAATGAAATGA frameshift_variant False LIPE@p.H946P 1 0.152 ENSG00000079435 chr19:42402737-42402737;T/G missense_variant False LIPN@p.A264P 1 0.917 ENSG00000204020 chr10:88770962-88770962;G/C missense_variant False LARGE1@p.P91Ifs*144 1 0.102 ENSG00000133424 chr22:33650504-33650504;G/GAGTTTGAAGTCTAACCACTCTTTATTCCAGAAAAT frameshift_variant False LAMC2@p.K982_V983insL 1 0.5 ENSG00000058085 chr1:183239440-183239440;G/GCTT inframe_insertion False LMCD1@p.L285Cfs*30 1 0.15 ENSG00000071282 chr3:8565560-8565560;C/CTGTG frameshift_variant False LAMC2@p.K982Nfs*10 1 0.5 ENSG00000058085 chr1:183239439-183239439;A/ATCCCATCTAT frameshift_variant False KRTAP5-2@p.P140T 1 0.25 ENSG00000205867 chr11:1597833-1597833;G/T missense_variant False KRTAP5-3@p.P38A 1 0.202 ENSG00000196224 chr11:1608274-1608274;G/C missense_variant False KRTAP9-2@p.C164W 1 0.032 ENSG00000239886 chr17:41227146-41227146;T/G missense_variant False KSR2@p.P274L 1 0.122 ENSG00000171435 chr12:117761176-117761176;G/A missense_variant False KTI12@p.D37E 1 0.029 ENSG00000198841 chr1:52033651-52033651;G/C missense_variant False KYAT1@p.S78N 1 0.052 ENSG00000286112 chr9:128838336-128838336;C/T missense_variant False L3MBTL3@p.S206L 1 0.183 ENSG00000198945 chr6:130055205-130055205;C/T missense_variant False L3MBTL4@p.L593Rfs*27 1 0.5 ENSG00000154655 chr18:5956286-5956286;CA/C frameshift_variant False LACTBL1@p.H427Qfs*? 1 0.556 ENSG00000215906 chr1:22953403-22953403;G/GTAGT frameshift_variant False LACTBL1@p.P428Rfs*13 1 0.571 ENSG00000215906 chr1:22953401-22953401;G/GAGATC frameshift_variant False LAMA1@p.G2292A 1 0.061 ENSG00000101680 chr18:6971881-6971881;C/G missense_variant False LAMA1@p.K1738R 1 0.403 ENSG00000101680 chr18:6986303-6986303;T/C missense_variant False LAMA1@p.T1987I 1 0.361 ENSG00000101680 chr18:6980568-6980568;G/A missense_variant False LAMA2@p.A912V 1 0.146 ENSG00000196569 chr6:129288044-129288044;C/T missense_variant False LAMA2@p.E2681V 1 0.174 ENSG00000196569 chr6:129492044-129492044;A/T missense_variant False LAMA2@p.G374R 1 0.235 ENSG00000196569 chr6:129154597-129154597;G/A missense_variant False LAMA2@p.K1932E 1 0.267 ENSG00000196569 chr6:129403888-129403888;A/G missense_variant False LAMA2@p.K2874N 1 0.128 ENSG00000196569 chr6:129505274-129505274;A/T missense_variant False LAMA2@p.N1781S 1 0.292 ENSG00000196569 chr6:129393152-129393152;A/G missense_variant False LAMA3@p.Q375K 1 0.37 ENSG00000053747 chr18:23763464-23763464;C/A missense_variant False LAMA4@p.S1680R 1 0.466 ENSG00000112769 chr6:112115937-112115937;T/G missense_variant False LAMB1@p.Q1277L 1 0.089 ENSG00000091136 chr7:107937209-107937209;T/A missense_variant False LAMB1@p.Q1777E 1 0.241 ENSG00000091136 chr7:107923983-107923983;G/C missense_variant False LAMB2@p.G169Afs*23 1 0.026 ENSG00000172037 chr3:49131676-49131676;GC/G frameshift_variant False LAMC1@p.S1112N 1 0.097 ENSG00000135862 chr1:183130398-183130398;G/A missense_variant False LMAN1L@p.K381N 1 0.096 ENSG00000140506 chr15:74822653-74822653;G/T missense_variant False LMNB2@p.S580Lfs*8 1 0.094 ENSG00000176619 chr19:2431630-2431630;G/GCAAATCACAGACCA frameshift_variant False MACF1@p.S668N 1 0.714 ENSG00000127603 chr1:39293468-39293468;G/A missense_variant False LRRC43@p.K482T 1 0.49 ENSG00000158113 chr12:122200284-122200284;A/C missense_variant False LRRCC1@p.N904K 1 0.154 ENSG00000133739 chr8:85138347-85138347;T/A missense_variant False LRRIQ1@p.D1005E 1 0.299 ENSG00000133640 chr12:85098482-85098482;T/A missense_variant False LRRK2@p.F511C 1 0.077 ENSG00000188906 chr12:40259593-40259593;T/G missense_variant False LRRK2@p.L139S 1 0.224 ENSG00000188906 chr12:40235694-40235694;T/C missense_variant False LRRK2@p.M257Kfs*7 1 0.075 ENSG00000188906 chr12:40243612-40243612;ATG/A frameshift_variant False LRRK2@p.N1391H 1 0.059 ENSG00000188906 chr12:40308678-40308678;A/C missense_variant False LRRK2@p.S1593T 1 0.021 ENSG00000188906 chr12:40315251-40315251;G/C missense_variant False LRRN1@p.T468Ifs*8 1 0.75 ENSG00000175928 chr3:3846043-3846043;A/AT frameshift_variant False LRRN2@p.P548L 1 0.649 ENSG00000170382 chr1:204618350-204618350;G/A missense_variant False LRRN3@p.Y578D 1 0.351 ENSG00000173114 chr7:111124504-111124504;T/G missense_variant False LRRN4CL@p.A156D 1 0.438 ENSG00000177363 chr11:62688042-62688042;G/T missense_variant False LRRTM4@p.E213D 1 0.468 ENSG00000176204 chr2:77519230-77519230;C/A missense_variant False LRTM2@p.R306P 1 0.292 ENSG00000166159 chr12:1834525-1834525;G/C missense_variant False LRTOMT@p.M178Kfs*30 1 0.114 ENSG00000284922 chr11:72095473-72095473;A/AAACTATGCTCAAGTCCCTCCATTCC frameshift_variant False LTA@p.L175I 1 0.023 ENSG00000226979 chr6:31573598-31573598;C/A missense_variant False LTBP1@p.K1075R 1 0.111 ENSG00000049323 chr2:33293271-33293271;A/G missense_variant False LTBP1@p.S1256C 1 0.86 ENSG00000049323 chr2:33342873-33342873;A/T missense_variant False LTN1@p.A1527T 1 0.246 ENSG00000198862 chr21:28936601-28936601;C/T missense_variant False LVRN@p.D907Tfs*3 1 0.333 ENSG00000172901 chr5:116015727-116015727;AG/A frameshift_variant False LY6G5B@p.V11Efs*58 1 0.174 ENSG00000240053 chr6:31670981-31670981;G/GAATATAGCTCTGCATT frameshift_variant False LY9@p.V71A 1 0.049 ENSG00000122224 chr1:160799840-160799840;T/C missense_variant False LYPD6B@p.Y96H 1 0.116 ENSG00000150556 chr2:149208370-149208370;T/C missense_variant False MACF1@p.E1266Lfs*28 1 0.25 ENSG00000127603 chr1:39318464-39318464;T/TGCTTTCATCTCATTTGCTA frameshift_variant False MACF1@p.I1376_T1377insVVFEPVASVAPG 1 0.081 ENSG00000127603 chr1:39322706-39322706;C/CGTTGTCTTTGAACCAGTAGCATCCGTAGCACCTGGG inframe_insertion False MACF1@p.R7494W 1 0.08 ENSG00000127603 chr1:39485606-39485606;C/T missense_variant False LRRC8A@p.P462L 1 0.245 ENSG00000136802 chr9:128908549-128908549;C/T missense_variant False LRRC3C@p.L110M 1 0.165 ENSG00000204913 chr17:39944234-39944234;C/A missense_variant False LMTK2@p.P1463S 1 0.065 ENSG00000164715 chr7:98204090-98204090;C/T missense_variant False LRRC3B@p.Y70C 1 0.348 ENSG00000179796 chr3:26709881-26709881;A/G missense_variant False LONP2@p.L773Q 1 0.104 ENSG00000102910 chr16:48348271-48348271;T/A missense_variant False LONRF2@p.W663R 1 0.068 ENSG00000170500 chr2:100286997-100286997;A/G missense_variant False LOXHD1@p.D947G 1 0.214 ENSG00000167210 chr18:46560304-46560304;T/C missense_variant False LOXHD1@p.K327T 1 0.26 ENSG00000167210 chr18:46601371-46601371;T/G missense_variant False LPAR4@p.I51M 1 0.018 ENSG00000147145 chrX:78755022-78755022;C/G missense_variant False LPIN1@p.E917K 1 0.174 ENSG00000134324 chr2:11824759-11824759;G/A missense_variant False LPIN1@p.S270F 1 0.8 ENSG00000134324 chr2:11776172-11776172;C/T missense_variant False LRIF1@p.I97L 1 0.231 ENSG00000121931 chr1:110952595-110952595;T/G missense_variant False LRIG3@p.K213Q 1 0.534 ENSG00000139263 chr12:58890018-58890018;T/G missense_variant False LRIG3@p.L602Rfs*64 1 0.075 ENSG00000139263 chr12:58879102-58879102;A/ACCTAAGTACATGCACATAC frameshift_variant False LRIG3@p.L602_P603insG 1 0.075 ENSG00000139263 chr12:58879100-58879100;G/GTCC inframe_insertion False LRIT1@p.Q329H 1 0.324 ENSG00000148602 chr10:84232812-84232812;T/G missense_variant False LRP12@p.V740L 1 0.162 ENSG00000147650 chr8:104491035-104491035;C/G missense_variant False LRP1@p.D1042Gfs*12 1 0.231 ENSG00000123384 chr12:57169267-57169267;A/AGGCCCTCCAGGAGCCTTCTCCTCCTCCTCATCCT frameshift_variant False LRP1@p.I1223V 1 0.183 ENSG00000123384 chr12:57175579-57175579;A/G missense_variant False LRP1B@p.K4068E 1 0.05 ENSG00000168702 chr2:140334474-140334474;T/C missense_variant False LRP1B@p.K4068Rfs*39 1 0.05 ENSG00000168702 chr2:140334472-140334472;CT/C frameshift_variant False LRP1B@p.M1882L 1 0.254 ENSG00000168702 chr2:140769327-140769327;T/A missense_variant False LRP2@p.C3163S 1 0.625 ENSG00000081479 chr2:169185861-169185861;A/T missense_variant False LRP2@p.V517M 1 0.313 ENSG00000081479 chr2:169279388-169279388;C/T missense_variant False LRP4@p.I1741V 1 0.066 ENSG00000134569 chr11:46864470-46864470;T/C missense_variant False LRRC14@p.E270V 1 0.333 ENSG00000160959 chr8:144520717-144520717;A/T missense_variant False LRRC27@p.R387W 1 0.2 ENSG00000148814 chr10:132355875-132355875;C/T missense_variant False LRRC32@p.A497E 1 0.151 ENSG00000137507 chr11:76660103-76660103;G/T missense_variant False LRRC37A3@p.Y1232S 1 0.054 ENSG00000176809 chr17:64860451-64860451;T/G missense_variant False HRH2@p.I29Pfs*18 1 0.186 ENSG00000113749 chr5:175683316-175683316;T/TCC frameshift_variant False HRCT1@p.H71R 1 0.065 ENSG00000196196 chr9:35906499-35906499;A/G missense_variant False DRD3@p.A151Vfs*4 1 0.041 ENSG00000151577 chr3:114147489-114147489;G/GTA frameshift_variant False FAM76B@p.H177Y 1 0.093 ENSG00000077458 chr11:95783099-95783099;G/A missense_variant False FANCA@p.R1084H 1 0.197 ENSG00000187741 chr16:89748756-89748756;C/T missense_variant False FANCB@p.K358R 1 0.278 ENSG00000181544 chrX:14859213-14859213;T/C missense_variant False FANCD2@p.A1074V 1 0.051 ENSG00000144554 chr3:10081461-10081461;C/T missense_variant False FANCE@p.D325A 1 0.125 ENSG00000112039 chr6:35458301-35458301;A/C missense_variant False FANCI@p.R840C 1 0.052 ENSG00000140525 chr15:89294976-89294976;C/T missense_variant False FANCI@p.S306Qfs*19 1 0.66 ENSG00000140525 chr15:89273409-89273409;A/ACAGGGTTTCACCATGTTGGCCAG frameshift_variant False FAT1@p.D2622N 1 0.043 ENSG00000083857 chr4:186618722-186618722;C/T missense_variant False FAT1@p.F4371S 1 0.228 ENSG00000083857 chr4:186595715-186595715;A/G missense_variant False FAT1@p.G1895A 1 0.247 ENSG00000083857 chr4:186620902-186620902;C/G missense_variant False FAT1@p.N2018Y 1 0.75 ENSG00000083857 chr4:186620534-186620534;T/A missense_variant False FAT1@p.P1714S 1 0.012 ENSG00000083857 chr4:186621446-186621446;G/A missense_variant False FAT1@p.T2291Nfs*9 1 0.667 ENSG00000083857 chr4:186619714-186619714;G/GGCCTCTGGGAGGTGAT frameshift_variant False FAT1@p.V350Efs*7 1 0.015 ENSG00000083857 chr4:186708779-186708779;A/AACCCGAGGCATCAGTT frameshift_variant False FAT2@p.A2249V 1 0.071 ENSG00000086570 chr5:151544381-151544381;G/A missense_variant False FAT2@p.G3507D 1 0.077 ENSG00000086570 chr5:151522073-151522073;C/T missense_variant False FAT2@p.L875P 1 0.05 ENSG00000086570 chr5:151566308-151566308;A/G missense_variant False FAT4@p.C4852Pfs*10 1 0.257 ENSG00000196159 chr4:125491369-125491369;T/TCCCAACCCTC frameshift_variant False FAT4@p.S4853Lfs*46 1 0.25 ENSG00000196159 chr4:125491371-125491371;G/GTCTCGACACAGTCCAGCCCCTTT frameshift_variant False FBLL1@p.P252S 1 0.152 ENSG00000188573 chr5:168530258-168530258;C/T missense_variant False FBLN1@p.F430Sfs*23 1 0.56 ENSG00000077942 chr22:45543493-45543493;T/TCAGGGAAGCCTGGCAGCTGCCAACCACTCCCCCAAAG frameshift_variant False FBLN2@p.G602C 1 0.075 ENSG00000163520 chr3:13618150-13618150;G/T missense_variant False FBN1@p.R627H 1 0.031 ENSG00000166147 chr15:48505105-48505105;C/T missense_variant False FBN3@p.D2602H 1 0.386 ENSG00000142449 chr19:8073196-8073196;C/G missense_variant False FBN3@p.S1974T 1 0.276 ENSG00000142449 chr19:8091576-8091576;A/T missense_variant False FBXO15@p.H361Y 1 0.283 ENSG00000141665 chr18:74123425-74123425;G/A missense_variant False FAM81B@p.Q165H 1 0.136 ENSG00000153347 chr5:95414148-95414148;G/T missense_variant False FAM71A@p.L28Cfs*32 1 0.026 None chr1:212624958-212624958;AC/A frameshift_variant False FBXO41@p.Q327P 1 0.636 ENSG00000163013 chr2:73266608-73266608;T/G missense_variant False FAM71A@p.A333V 1 0.083 None chr1:212625875-212625875;C/T missense_variant False F8@p.Y655N 1 0.333 ENSG00000185010 chrX:154947848-154947848;A/T missense_variant False FABP3@p.T103Pfs*7 1 0.156 ENSG00000121769 chr1:31367434-31367434;TC/T frameshift_variant False FABP7@p.L92F 1 0.248 ENSG00000164434 chr6:122781120-122781120;C/T missense_variant False FABP7@p.V126A 1 0.486 ENSG00000164434 chr6:122783745-122783745;T/C missense_variant False FAF2@p.K310N 1 0.324 ENSG00000113194 chr5:176499004-176499004;G/C missense_variant False FAM117B@p.L382Pfs*6 1 0.269 ENSG00000138439 chr2:202757245-202757245;A/AC frameshift_variant False FAM117B@p.M542_T543insYIAQKTIRV 1 0.081 ENSG00000138439 chr2:202765620-202765620;G/GTATATTGCTCAGAAAACTATCAGGGTT inframe_insertion False FAM118A@p.L238Vfs*16 1 0.375 ENSG00000100376 chr22:45332483-45332483;C/CGGTGTGGGCACTGCCACCCGCCTCGGCCAAAGACCAGCTA frameshift_variant False FAM120A@p.A1108Vfs*16 1 0.8 ENSG00000048828 chr9:93564505-93564505;G/GTCATTAGGCCAAAATTGGCATCCTCT frameshift_variant False FAM131B@p.S142C 1 0.179 ENSG00000159784 chr7:143358868-143358868;G/C missense_variant False FAM135B@p.D1358Tfs*4 1 0.051 ENSG00000147724 chr8:138132741-138132741;TC/T frameshift_variant False FAM13A@p.A7S 1 0.538 ENSG00000138640 chr4:89056946-89056946;C/A missense_variant False FAM155A@p.E394D 1 0.148 None chr13:107170692-107170692;C/A missense_variant False FAM172A@p.H277Lfs*9 1 0.152 ENSG00000113391 chr5:93824224-93824224;T/TA frameshift_variant False FAM180A@p.G170_V171insLGCW 1 0.1 ENSG00000189320 chr7:135733986-135733986;C/CCCAGCACCCTAG inframe_insertion False FAM187B@p.L92H 1 0.3 ENSG00000177558 chr19:35228406-35228406;A/T missense_variant False FAM187B@p.V330M 1 0.143 ENSG00000177558 chr19:35224947-35224947;C/T missense_variant False FAM200A@p.E29K 1 0.2 ENSG00000221909 chr7:99548323-99548323;C/T missense_variant False FAM200A@p.E58D 1 0.148 ENSG00000221909 chr7:99548234-99548234;C/G missense_variant False FAM205A@p.D192N 1 0.071 None chr9:34726666-34726666;C/T missense_variant False FAM205A@p.W302C 1 0.045 None chr9:34726334-34726334;C/A missense_variant False FAM228B@p.F67C 1 0.139 ENSG00000219626 chr2:24137940-24137940;T/G missense_variant False FAM43A@p.D86E 1 0.443 ENSG00000185112 chr3:194687084-194687084;C/A missense_variant False FAM47C@p.D492_P503dup 1 0.13 ENSG00000198173 chrX:37009869-37009869;C/CGCCCAGAGCCTCCCGACACTGGAGTGTCCCATCTCT inframe_insertion False FAM47C@p.L462Tfs*15 1 0.076 ENSG00000198173 chrX:37009792-37009792;G/GCACAGATACATCAAAAGAAGCACAA frameshift_variant False FBXO40@p.I25Tfs*80 1 0.043 ENSG00000163833 chr3:121621501-121621501;CATTCCTGTGGA/C frameshift_variant False FBXW10@p.A152_A153insP 1 0.056 ENSG00000171931 chr17:18744700-18744700;T/TCCA inframe_insertion False F13A1@p.N527K 1 0.071 ENSG00000124491 chr6:6174746-6174746;A/T missense_variant False FHOD3@p.R1446H 1 0.5 ENSG00000134775 chr18:36755223-36755223;G/A missense_variant False FLG2@p.H2309Q 1 0.016 ENSG00000143520 chr1:152350859-152350859;A/C missense_variant False FLG2@p.R353S 1 0.304 ENSG00000143520 chr1:152356727-152356727;T/G missense_variant False FLG2@p.S343P 1 0.225 ENSG00000143520 chr1:152356759-152356759;A/G missense_variant False FLG2@p.T1203S 1 0.026 ENSG00000143520 chr1:152354179-152354179;T/A missense_variant False FLG2@p.T2222I 1 0.018 ENSG00000143520 chr1:152351121-152351121;G/A missense_variant False FLG@p.D3779Efs*194 1 0.049 ENSG00000143631 chr1:152303548-152303548;TA/T frameshift_variant False FLG@p.E286V 1 0.75 ENSG00000143631 chr1:152314029-152314029;T/A missense_variant False FLG@p.H1131Q 1 0.158 ENSG00000143631 chr1:152311493-152311493;A/T missense_variant False FLG@p.Q3452Tfs*5 1 0.5 ENSG00000143631 chr1:152304532-152304532;G/GAGTGT frameshift_variant False FLG@p.S127Ifs*67 1 0.129 ENSG00000143631 chr1:152314505-152314505;AC/A frameshift_variant False FLI1@p.S298Rfs*31 1 0.323 ENSG00000151702 chr11:128810522-128810522;G/GAGTTTGCACCTCACTTCCCACATTCCATTTACCAGGC frameshift_variant False FLII@p.E1235K 1 0.208 ENSG00000177731 chr17:18245245-18245245;C/T missense_variant False FLII@p.L253Ifs*15 1 0.171 ENSG00000177731 chr17:18253642-18253642;G/GCAAAT frameshift_variant False FLT1@p.L648F 1 0.172 ENSG00000102755 chr13:28389823-28389823;G/A missense_variant False FLT1@p.Q1005K 1 0.13 ENSG00000102755 chr13:28322300-28322300;G/T missense_variant False FLT3@p.F298V 1 0.41 ENSG00000122025 chr13:28049528-28049528;A/C missense_variant True FLT4@p.R283C 1 0.156 ENSG00000037280 chr5:180629397-180629397;G/A missense_variant False FMN2@p.I807Dfs*87 1 0.111 ENSG00000155816 chr1:240207230-240207230;C/CGATACAGACTTCCCCCACGG frameshift_variant False FMN2@p.L1474P 1 0.129 ENSG00000155816 chr1:240329452-240329452;T/C missense_variant False FNDC1@p.Y198C 1 0.248 ENSG00000164694 chr6:159215077-159215077;A/G missense_variant False FNIP2@p.L1039_Q1040insNKPI 1 0.444 ENSG00000052795 chr4:158891613-158891613;A/AAATAAACCCATC inframe_insertion False FOCAD@p.P1522S 1 0.158 ENSG00000188352 chr9:20981612-20981612;C/T missense_variant False FOCAD@p.Y180H 1 0.5 ENSG00000188352 chr9:20764912-20764912;T/C missense_variant False FOLH1@p.G533C 1 0.208 ENSG00000086205 chr11:49156743-49156743;C/A missense_variant False FOLH1@p.Y242C 1 0.545 ENSG00000086205 chr11:49185770-49185770;T/C missense_variant False FLAD1@p.D129G 1 0.147 ENSG00000160688 chr1:154988118-154988118;A/G missense_variant False FGGY@p.H108R 1 0.471 ENSG00000172456 chr1:59346256-59346256;A/G missense_variant False FBXW10@p.A153Lfs*4 1 0.056 ENSG00000171931 chr17:18744698-18744698;G/GCA frameshift_variant False FGFR1@p.V368L 1 0.75 ENSG00000077782 chr8:38419715-38419715;C/A missense_variant False FBXW7@p.Q27H 1 0.5 ENSG00000109670 chr4:152411723-152411723;C/G missense_variant True FBXW7@p.V28Sfs*3 1 0.5 ENSG00000109670 chr4:152411722-152411722;C/CT frameshift_variant True FBXW9@p.A254E 1 0.6 ENSG00000132004 chr19:12691372-12691372;G/T missense_variant False FCAMR@p.R113Cfs*86 1 0.404 ENSG00000162897 chr1:206962528-206962528;T/TATATATTTCATGACATTTGGGGGACACAGGTGGGAGAGTGTACA frameshift_variant False FCGBP@p.C2693F 1 0.016 ENSG00000275395 chr19:39886101-39886101;C/A missense_variant False FCGBP@p.L2160P 1 0.211 ENSG00000275395 chr19:39892164-39892164;A/G missense_variant False FCRL2@p.L409F 1 0.329 ENSG00000132704 chr1:157766909-157766909;G/A missense_variant False FCRL5@p.N161K 1 0.07 ENSG00000143297 chr1:157544907-157544907;A/C missense_variant False FCRL6@p.G15R 1 0.072 ENSG00000181036 chr1:159806607-159806607;G/A missense_variant False FCRLA@p.C46W 1 0.021 ENSG00000132185 chr1:161710818-161710818;C/G missense_variant False FECH@p.E183G 1 0.114 ENSG00000066926 chr18:57566497-57566497;T/C missense_variant False FER1L6@p.A1224D 1 0.1 ENSG00000214814 chr8:124066543-124066543;C/A missense_variant False FER1L6@p.D660H 1 0.055 ENSG00000214814 chr8:124017683-124017683;G/C missense_variant False FERMT2@p.K153E 1 0.139 ENSG00000073712 chr14:52893362-52893362;T/C missense_variant False FERMT3@p.S40L 1 0.348 ENSG00000149781 chr11:64207483-64207483;C/T missense_variant False FETUB@p.A176V 1 0.386 ENSG00000090512 chr3:186644853-186644853;C/T missense_variant False FEZ1@p.D111Efs*36 1 0.6 ENSG00000149557 chr11:125481612-125481612;G/GGGACCACAAGCATGCGCCACCATGCCTGGCTAAT frameshift_variant False FEZ1@p.E183A 1 0.038 ENSG00000149557 chr11:125460617-125460617;T/G missense_variant False FEZF1@p.I33F 1 0.066 ENSG00000128610 chr7:122304341-122304341;T/A missense_variant False FGA@p.K322N 1 0.037 ENSG00000171560 chr4:154586463-154586463;T/A missense_variant False FGD6@p.L325R 1 1.0 ENSG00000180263 chr12:95210310-95210310;A/C missense_variant False FGD6@p.V740A 1 0.3 ENSG00000180263 chr12:95209065-95209065;A/G missense_variant False FGF1@p.G35D 1 0.053 ENSG00000113578 chr5:142614024-142614024;C/T missense_variant False FGF8@p.C138Y 1 0.167 ENSG00000107831 chr10:101771494-101771494;C/T missense_variant False FGF9@p.L166Kfs*2 1 0.065 ENSG00000102678 chr13:21701303-21701303;ATT/A frameshift_variant False F8@p.D382G 1 0.018 ENSG00000185010 chrX:154966552-154966552;T/C missense_variant False F12@p.W505Afs*158 1 0.683 ENSG00000131187 chr5:177403269-177403269;CCCAG/C frameshift_variant False FOXC1@p.A494D 1 0.14 ENSG00000054598 chr6:1611926-1611926;C/A missense_variant False EDN1@p.S185R 1 0.087 ENSG00000078401 chr6:12295983-12295983;C/A missense_variant False EFCAB11@p.A155T 1 0.214 ENSG00000140025 chr14:89797272-89797272;C/T missense_variant False EFR3A@p.Q397H 1 0.51 ENSG00000132294 chr8:131976058-131976058;G/T missense_variant False EFR3A@p.R398G 1 0.51 ENSG00000132294 chr8:131976059-131976059;A/G missense_variant False EFTUD2@p.F820Sfs*77 1 0.171 ENSG00000108883 chr17:44853525-44853525;A/ATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACT frameshift_variant False EGF@p.T381Sfs*4 1 0.412 ENSG00000138798 chr4:109960941-109960941;AC/A frameshift_variant False EGLN1@p.K204Tfs*71 1 0.211 ENSG00000135766 chr1:231421280-231421280;G/GTA frameshift_variant False EHBP1@p.E1098D 1 0.339 ENSG00000115504 chr2:63045082-63045082;G/T missense_variant False EHBP1@p.M1050I 1 0.571 ENSG00000115504 chr2:63037581-63037581;G/T missense_variant False EHD3@p.D449G 1 0.308 ENSG00000013016 chr2:31266442-31266442;A/G missense_variant False EIF2AK1@p.L333F 1 0.093 ENSG00000086232 chr7:6041012-6041012;C/A missense_variant False EIF2AK4@p.F927L 1 0.909 ENSG00000128829 chr15:39996976-39996976;T/C missense_variant False EIF2S3@p.V8Dfs*37 1 0.4 ENSG00000130741 chrX:24054990-24054990;G/GACTT frameshift_variant False EIF3E@p.Q247P 1 0.2 ENSG00000104408 chr8:108217443-108217443;T/G missense_variant False EIF3E@p.R155T 1 0.583 ENSG00000104408 chr8:108235005-108235005;C/G missense_variant False EIF4G3@p.I1005V 1 0.092 ENSG00000075151 chr1:20860466-20860466;T/C missense_variant False EIF5AL1@p.E132K 1 0.188 ENSG00000253626 chr10:79513043-79513043;G/A missense_variant False EIPR1@p.M101I 1 0.214 ENSG00000032389 chr2:3257412-3257412;C/T missense_variant False ELAVL2@p.H357Qfs*14 1 0.129 ENSG00000107105 chr9:23692567-23692567;TGC/T frameshift_variant False ELF4@p.R535T 1 0.685 ENSG00000102034 chrX:130067109-130067109;C/G missense_variant False ELK4@p.A133V 1 0.231 ENSG00000158711 chr1:205620648-205620648;G/A missense_variant False ELMO2@p.D678A 1 0.167 ENSG00000062598 chr20:46367490-46367490;T/G missense_variant False ELMO2@p.R571Q 1 0.57 ENSG00000062598 chr20:46371441-46371441;C/T missense_variant False ELOA3D@p.H227Y 1 0.019 None chr18:46963730-46963730;G/A missense_variant False EMC3@p.M106I 1 0.493 ENSG00000125037 chr3:9974478-9974478;C/A missense_variant False EMC7@p.P172L 1 0.375 ENSG00000134153 chr15:34088114-34088114;G/A missense_variant False EED@p.E45G 1 0.024 ENSG00000074266 chr11:86250315-86250315;A/G missense_variant False EDEM3@p.H454D 1 0.02 ENSG00000116406 chr1:184716898-184716898;G/C missense_variant False EML3@p.A67S 1 0.16 ENSG00000149499 chr11:62611340-62611340;C/A missense_variant False ECHS1@p.F116Y 1 0.506 ENSG00000127884 chr10:133369971-133369971;A/T missense_variant False DRD3@p.A327P 1 0.086 ENSG00000151577 chr3:114131145-114131145;C/G missense_variant False DRP2@p.L118Vfs*7 1 0.092 ENSG00000102385 chrX:101237688-101237688;G/GGTCT frameshift_variant False DRP2@p.W117Lfs*65 1 0.092 ENSG00000102385 chrX:101237686-101237686;T/TTGTTGAAC frameshift_variant False DSC1@p.T776I 1 0.093 ENSG00000134765 chr18:31131754-31131754;G/A missense_variant False DSC2@p.T524Qfs*47 1 0.455 ENSG00000134755 chr18:31079939-31079939;GT/G frameshift_variant False DSC3@p.N388Y 1 0.13 ENSG00000134762 chr18:31018172-31018172;T/A missense_variant False DTNA@p.R172W 1 0.273 ENSG00000134769 chr18:34812024-34812024;C/T missense_variant False DUOX1@p.A1326V 1 0.075 ENSG00000137857 chr15:45161858-45161858;C/T missense_variant False DUOX1@p.V97L 1 0.306 ENSG00000137857 chr15:45134291-45134291;G/C missense_variant False DUOX2@p.F1113Wfs*23 1 0.5 ENSG00000140279 chr15:45099739-45099739;A/AGAGATGGAGGTATAAGGAGTTCCATCTCCCCACTGTTTCCCCC frameshift_variant False DUOXA2@p.T85P 1 0.087 ENSG00000140274 chr15:45116171-45116171;A/C missense_variant False DUS3L@p.I482V 1 0.259 ENSG00000141994 chr19:5786791-5786791;T/C missense_variant False DUSP21@p.I69K 1 0.082 ENSG00000189037 chrX:44844338-44844338;T/A missense_variant False DUSP6@p.A250T 1 0.054 ENSG00000139318 chr12:89350678-89350678;C/T missense_variant False DVL1@p.G372R 1 0.184 ENSG00000107404 chr1:1339380-1339380;C/T missense_variant False DYNC1H1@p.K185N 1 0.227 ENSG00000197102 chr14:101979755-101979755;G/C missense_variant False DYNC2I1@p.L693Q 1 0.25 ENSG00000126870 chr7:158922533-158922533;T/A missense_variant False DYNC2LI1@p.P125S 1 0.333 ENSG00000138036 chr2:43794509-43794509;C/T missense_variant False DYSF@p.I1419Hfs*8 1 0.152 ENSG00000135636 chr2:71612666-71612666;G/GC frameshift_variant False DYSF@p.V812I 1 0.094 ENSG00000135636 chr2:71564082-71564082;G/A missense_variant False DYTN@p.C252F 1 0.702 ENSG00000232125 chr2:206694842-206694842;C/A missense_variant False DZIP1@p.R70W 1 0.043 ENSG00000134874 chr13:95641684-95641684;G/A missense_variant False E2F7@p.E2D 1 0.297 ENSG00000165891 chr12:77064630-77064630;C/G missense_variant False E2F8@p.G713R 1 0.969 ENSG00000129173 chr11:19225505-19225505;C/T missense_variant False ECHDC2@p.E188Sfs*25 1 0.69 ENSG00000121310 chr1:52904786-52904786;C/CGAATTAAAATTTGACTTGATTGTGTTTACTGGATGGTTAAACAAACT frameshift_variant False EMG1@p.V116F 1 0.13 ENSG00000126749 chr12:6974627-6974627;G/T missense_variant False EN1@p.R326Pfs*149 1 0.427 ENSG00000163064 chr2:118843140-118843140;C/CG frameshift_variant False EZHIP@p.Y471Vfs*12 1 0.036 ENSG00000187690 chrX:51408426-51408426;G/GGTTAGGGTTAGGGTTAGGGTTAGGGT frameshift_variant False ERGIC1@p.Q247H 1 0.2 ENSG00000113719 chr5:172935286-172935286;G/T missense_variant False ERICH5@p.N225Kfs*35 1 0.079 ENSG00000177459 chr8:98089691-98089691;A/AAG frameshift_variant False ERICH6@p.S129T 1 0.115 ENSG00000163645 chr3:150703513-150703513;C/G missense_variant False ERLIN2@p.M306V 1 0.16 ENSG00000147475 chr8:37754011-37754011;A/G missense_variant False ESPNL@p.L203Pfs*39 1 0.154 ENSG00000144488 chr2:238104760-238104760;A/ACGTGCACCTT frameshift_variant False ESR2@p.G342E 1 0.273 ENSG00000140009 chr14:64257292-64257292;C/T missense_variant False ESRP1@p.V173L 1 0.333 ENSG00000104413 chr8:94662298-94662298;G/C missense_variant False ESRRG@p.H407P 1 0.095 ENSG00000196482 chr1:216507096-216507096;T/G missense_variant False ESYT1@p.G340R 1 0.6 ENSG00000139641 chr12:56132454-56132454;G/A missense_variant False ESYT2@p.A152T 1 0.077 ENSG00000117868 chr7:158797995-158797995;C/T missense_variant False ESYT3@p.I135F 1 0.94 ENSG00000158220 chr3:138455227-138455227;A/T missense_variant False ETF1@p.S6R 1 0.75 ENSG00000120705 chr5:138542901-138542901;A/T missense_variant False ETNK2@p.L70V 1 0.118 ENSG00000143845 chr1:204151645-204151645;G/C missense_variant False ETV3@p.T414S 1 0.087 ENSG00000117036 chr1:157125140-157125140;T/A missense_variant False ETV4@p.A431V 1 0.091 ENSG00000175832 chr17:43528682-43528682;G/A missense_variant False ETV4@p.L205P 1 0.529 ENSG00000175832 chr17:43532871-43532871;A/G missense_variant False EVPL@p.E1783D 1 0.225 ENSG00000167880 chr17:76007856-76007856;C/G missense_variant False EXD3@p.R822G 1 0.23 ENSG00000187609 chr9:137307117-137307117;T/C missense_variant False EXO1@p.T52Efs*3 1 0.09 ENSG00000174371 chr1:241850577-241850577;C/CCGAA frameshift_variant False EXOC2@p.E776K 1 0.118 ENSG00000112685 chr6:532523-532523;C/T missense_variant False EXOC8@p.N240Ifs*29 1 0.081 ENSG00000116903 chr1:231337027-231337027;T/TA frameshift_variant False EXOC8@p.V239_N240insSRLQENLRS 1 0.081 ENSG00000116903 chr1:231337028-231337028;T/TCGATCTCAAATTCTCTTGCAGTCTCGA inframe_insertion False EXOG@p.L309F 1 0.667 ENSG00000157036 chr3:38524182-38524182;G/T missense_variant False EXOG@p.L309W 1 0.667 ENSG00000157036 chr3:38524181-38524181;T/G missense_variant False EYS@p.K3113R 1 1.0 ENSG00000188107 chr6:63720693-63720693;T/C missense_variant False EYS@p.R25I 1 0.063 ENSG00000188107 chr6:65495337-65495337;C/A missense_variant False ERICH3@p.E1428V 1 0.813 ENSG00000178965 chr1:74571427-74571427;T/A missense_variant False ERGIC1@p.P248T 1 0.2 ENSG00000113719 chr5:172935287-172935287;C/A missense_variant False ENAM@p.E862G 1 0.27 ENSG00000132464 chr4:70644011-70644011;A/G missense_variant False ERC1@p.R816P 1 0.31 ENSG00000082805 chr12:1236864-1236864;G/C missense_variant False ENC1@p.M152I 1 0.747 ENSG00000171617 chr5:74636030-74636030;C/T missense_variant False ENDOU@p.N207K 1 0.313 ENSG00000111405 chr12:47716430-47716430;G/T missense_variant False ENDOU@p.P197A 1 0.315 ENSG00000111405 chr12:47716462-47716462;G/C missense_variant False ENPP2@p.V137G 1 0.6 ENSG00000136960 chr8:119621402-119621402;A/C missense_variant False ENTPD4@p.A79T 1 0.065 ENSG00000197217 chr8:23447857-23447857;C/T missense_variant False EP400@p.A2943_I2944insL 1 0.122 ENSG00000183495 chr12:132067441-132067441;C/CCTG inframe_insertion False EP400@p.T1600P 1 0.212 ENSG00000183495 chr12:132023884-132023884;A/C missense_variant False EPB41@p.K805Qfs*8 1 0.368 ENSG00000159023 chr1:29109433-29109433;C/CTCAGGAGGCTGAGG frameshift_variant False EPB41L3@p.T980N 1 0.097 ENSG00000082397 chr18:5396235-5396235;G/T missense_variant False EPB41L4B@p.R173P 1 0.128 ENSG00000095203 chr9:109267488-109267488;C/G missense_variant False EPC2@p.V83Ifs*17 1 0.012 ENSG00000135999 chr2:148690306-148690306;C/CATAAGTTGTTTTA frameshift_variant False EPG5@p.S38Tfs*18 1 0.208 ENSG00000152223 chr18:45955291-45955291;G/GGTTCTTTAGTA frameshift_variant False EPG5@p.V37F 1 0.208 ENSG00000152223 chr18:45955293-45955293;C/A missense_variant False EPHB1@p.R90C 1 0.044 ENSG00000154928 chr3:134951515-134951515;C/T missense_variant False EPHB2@p.G173Yfs*172 1 0.283 ENSG00000133216 chr1:22784781-22784781;C/CTACGATGAGAACATGAACACGATCCGCACGTACCAGGT frameshift_variant False EPHX4@p.M173Hfs*12 1 0.057 ENSG00000172031 chr1:92045564-92045564;T/TG frameshift_variant False EPN2@p.Q330K 1 0.571 ENSG00000072134 chr17:19313120-19313120;C/A missense_variant False EPRS1@p.K971E 1 0.167 ENSG00000136628 chr1:219987269-219987269;T/C missense_variant False EPX@p.R393Q 1 0.103 ENSG00000121053 chr17:58199097-58199097;G/A missense_variant False ERAP1@p.T571P 1 0.143 ENSG00000164307 chr5:96786518-96786518;T/G missense_variant False ERAP2@p.K756* 1 0.231 ENSG00000164308 chr5:96909675-96909675;G/GT frameshift_variant False ERBB2@p.L253Gfs*16 1 0.364 ENSG00000141736 chr17:39710198-39710198;C/CGGACAGATCA frameshift_variant True ERBB3@p.M1055V 1 0.857 ENSG00000065361 chr12:56100207-56100207;A/G missense_variant False ERBB4@p.R168W 1 0.618 ENSG00000178568 chr2:211788079-211788079;G/A missense_variant False ERC1@p.E445D 1 0.218 ENSG00000082805 chr12:1112232-1112232;G/C missense_variant False FOXA3@p.L138Q 1 0.125 ENSG00000170608 chr19:45872418-45872418;T/A missense_variant False FOXF2@p.K145N 1 0.03 ENSG00000137273 chr6:1390382-1390382;G/T missense_variant False HPN@p.P342T 1 0.079 ENSG00000105707 chr19:35065655-35065655;C/A missense_variant False GRIA2@p.R206C 1 0.095 ENSG00000120251 chr4:157312825-157312825;C/T missense_variant False GRID1@p.T404N 1 0.107 ENSG00000182771 chr10:85854518-85854518;G/T missense_variant False GRID2@p.K432R 1 0.069 ENSG00000152208 chr4:93395656-93395656;A/G missense_variant False GRIK2@p.G763_Y764insPH 1 0.026 ENSG00000164418 chr6:102035543-102035543;G/GCCCACA inframe_insertion False GRIK3@p.P880_K887dup 1 0.143 ENSG00000163873 chr1:36801949-36801949;T/TCTTGACCATCATGGGAGGCTGAGG inframe_insertion False GRIK3@p.R665C 1 0.067 ENSG00000163873 chr1:36817158-36817158;G/A missense_variant False GRIN2A@p.R1376C 1 0.57 ENSG00000183454 chr16:9763418-9763418;G/A missense_variant False GRIP2@p.R745H 1 0.098 ENSG00000144596 chr3:14506965-14506965;C/T missense_variant False GRK1@p.I313V 1 0.504 ENSG00000185974 chr13:113671608-113671608;A/G missense_variant False GRM3@p.S507F 1 0.075 ENSG00000198822 chr7:86839034-86839034;C/T missense_variant False GRM4@p.G662Qfs*3 1 0.929 ENSG00000124493 chr6:34036126-34036126;C/CTG frameshift_variant False GRM5@p.K56T 1 0.439 ENSG00000168959 chr11:89047706-89047706;T/G missense_variant False GRM5@p.S504C 1 0.576 ENSG00000168959 chr11:88597237-88597237;T/A missense_variant False GRM7@p.D69N 1 0.111 ENSG00000196277 chr3:6861593-6861593;G/A missense_variant False GRM7@p.K788Q 1 0.474 ENSG00000196277 chr3:7579268-7579268;A/C missense_variant False GRSF1@p.P381L 1 0.211 ENSG00000132463 chr4:70826239-70826239;G/A missense_variant False GRXCR1@p.S88R 1 0.503 ENSG00000215203 chr4:42893530-42893530;T/A missense_variant False GSN@p.G566Afs*43 1 0.088 ENSG00000148180 chr9:121327416-121327416;G/GCATAC frameshift_variant False GSTA1@p.M57V 1 0.373 ENSG00000243955 chr6:52796285-52796285;T/C missense_variant False GSTA1@p.R217K 1 0.646 ENSG00000243955 chr6:52791877-52791877;C/T missense_variant False GSTA3@p.E215D 1 0.656 ENSG00000174156 chr6:52896830-52896830;T/G missense_variant False GTF2H2C@p.A134P 1 0.057 ENSG00000183474 chr5:69572480-69572480;G/C missense_variant False GTF3C5@p.D517Gfs*28 1 0.912 ENSG00000148308 chr9:133057969-133057969;G/GGGGCAACACCTGCCAGGCTGTGGGTCTCACGAGGCTCGGGGGAGTT frameshift_variant False GUCY1A1@p.D293Y 1 0.4 ENSG00000164116 chr4:155711042-155711042;G/T missense_variant False GUCY2D@p.A580Wfs*63 1 0.064 ENSG00000132518 chr17:8009574-8009574;G/GTGGGGTGAGGGTGTTCT frameshift_variant False GYS2@p.L163* 1 0.016 ENSG00000111713 chr12:21575874-21575874;AG/A frameshift_variant False GRID1@p.P448T 1 0.688 ENSG00000182771 chr10:85728046-85728046;G/T missense_variant False GRIA2@p.G467D 1 0.174 ENSG00000120251 chr4:157335804-157335804;G/A missense_variant False H2AC16@p.L59V 1 0.429 ENSG00000276903 chr6:27865529-27865529;C/G missense_variant False GRIA1@p.Y364N 1 0.111 ENSG00000155511 chr5:153686285-153686285;T/A missense_variant False GPR137B@p.C205Sfs*15 1 0.229 ENSG00000077585 chr1:236178561-236178561;G/GAGTT frameshift_variant False GPR15@p.K186E 1 0.692 ENSG00000154165 chr3:98532589-98532589;A/G missense_variant False GPR179@p.A1702Qfs*81 1 0.034 ENSG00000277399 chr17:38328465-38328465;C/CAGGTGTTG frameshift_variant False GPR179@p.A82V 1 0.4 ENSG00000277399 chr17:38343545-38343545;G/A missense_variant False GPR179@p.D1048V 1 0.059 ENSG00000277399 chr17:38330426-38330426;T/A missense_variant False GPR182@p.N321H 1 0.306 ENSG00000166856 chr12:56996170-56996170;A/C missense_variant False GPR39@p.A444V 1 0.214 ENSG00000183840 chr2:132645575-132645575;C/T missense_variant False GPR50@p.D586N 1 0.625 ENSG00000102195 chrX:151181339-151181339;G/A missense_variant False GPR50@p.V198G 1 0.635 ENSG00000102195 chrX:151180176-151180176;T/G missense_variant False GPR52@p.H186L 1 0.938 ENSG00000203737 chr1:174448668-174448668;A/T missense_variant False GPR68@p.R183C 1 0.293 ENSG00000119714 chr14:91234504-91234504;G/A missense_variant False GPR85@p.E168Dfs*26 1 0.122 ENSG00000164604 chr7:113084218-113084218;C/CAGGTAGGGGCCCCACAAGGTTAGAAACAGAAAAG frameshift_variant False GPR85@p.L18P 1 0.407 ENSG00000164604 chr7:113084669-113084669;A/G missense_variant False GPRC5B@p.G154Efs*17 1 0.222 ENSG00000167191 chr16:19872385-19872385;C/CTT frameshift_variant False GPRC6A@p.L72H 1 0.667 ENSG00000173612 chr6:116809597-116809597;A/T missense_variant False GPRC6A@p.V237G 1 0.089 ENSG00000173612 chr6:116806995-116806995;A/C missense_variant False GPSM2@p.L27V 1 0.085 ENSG00000121957 chr1:108896886-108896886;C/G missense_variant False GRAP2@p.N135K 1 0.266 ENSG00000100351 chr22:39966104-39966104;T/A missense_variant False GRB10@p.E548_D549insICCCEPSRV 1 0.173 ENSG00000106070 chr7:50593092-50593092;C/CGACCCTGCTGGGTTCACAGCAGCAAAT inframe_insertion False GRB10@p.L483P 1 0.083 ENSG00000106070 chr7:50604319-50604319;A/G missense_variant False GRB7@p.P150L 1 0.078 ENSG00000141738 chr17:39743040-39743040;C/T missense_variant False GREB1@p.D789N 1 0.151 ENSG00000196208 chr2:11600831-11600831;G/A missense_variant False GREB1L@p.R1503Q 1 0.05 ENSG00000141449 chr18:21508257-21508257;G/A missense_variant False GRHL2@p.G154Afs*17 1 0.044 ENSG00000083307 chr8:101558594-101558594;G/GCCTCCCAAAGTACTGGGATTACAGGCAT frameshift_variant False GRHL2@p.R492_T493insASSF 1 0.559 ENSG00000083307 chr8:101632356-101632356;G/GGCCTCGAGCTTC inframe_insertion False H1-8@p.K241N 1 1.0 ENSG00000178804 chr3:129549345-129549345;A/T missense_variant False H2AC16@p.L59Yfs*4 1 0.429 ENSG00000276903 chr6:27865528-27865528;C/CTATAAGTA frameshift_variant False GPKOW@p.K334N 1 0.75 ENSG00000068394 chrX:49116235-49116235;T/A missense_variant False HERC2@p.T2988S 1 0.667 ENSG00000128731 chr15:28179199-28179199;T/A missense_variant False HHIPL1@p.D113H 1 0.065 ENSG00000182218 chr14:99652305-99652305;G/C missense_variant False HHIPL1@p.G246A 1 0.667 ENSG00000182218 chr14:99652705-99652705;G/C missense_variant False HHIPL1@p.Q133H 1 0.241 ENSG00000182218 chr14:99652367-99652367;G/C missense_variant False HHLA1@p.A91V 1 0.098 ENSG00000132297 chr8:132098890-132098890;G/A missense_variant False HIC1@p.A545V 1 0.086 ENSG00000177374 chr17:2058324-2058324;C/T missense_variant False HIP1@p.V90M 1 0.043 ENSG00000127946 chr7:75592431-75592431;C/T missense_variant False HIRIP3@p.E486K 1 0.286 ENSG00000149929 chr16:29993510-29993510;C/T missense_variant False HIVEP1@p.G2470D 1 0.071 ENSG00000095951 chr6:12163713-12163713;G/A missense_variant False HIVEP1@p.P1151A 1 0.316 ENSG00000095951 chr6:12123246-12123246;C/G missense_variant False HK2@p.H428Q 1 0.052 ENSG00000159399 chr2:74880283-74880283;T/A missense_variant False HKDC1@p.A530Sfs*55 1 0.361 ENSG00000156510 chr10:69250306-69250306;C/CTCATCCTCACAACCACTTGGAACGTTACCAAAGAGGAAAT frameshift_variant False HLCS@p.T489Ifs*96 1 0.068 ENSG00000159267 chr21:36767271-36767271;G/GATTCCTGATATTAACTGAGTTGTTA frameshift_variant False HMGA1@p.G20R 1 0.404 ENSG00000137309 chr6:34240838-34240838;G/C missense_variant False HMGCR@p.Q632Lfs*19 1 0.143 ENSG00000113161 chr5:75356356-75356356;C/CTCAAGCTAACACATTTGTTTTTATGTGAACTGTGT frameshift_variant False HMX3@p.A288V 1 0.199 ENSG00000188620 chr10:123137520-123137520;C/T missense_variant False HNF1B@p.P553R 1 0.098 ENSG00000275410 chr17:37687388-37687388;G/C missense_variant False HNRNPH1@p.R75Kfs*22 1 0.294 ENSG00000169045 chr5:179621267-179621267;TTCTC/T frameshift_variant False HNRNPL@p.N483I 1 0.406 ENSG00000104824 chr19:38838506-38838506;T/A missense_variant False HNRNPUL1@p.I284Rfs*13 1 0.373 ENSG00000105323 chr19:41279139-41279139;T/TCG frameshift_variant False HOMER2@p.I265T 1 0.232 ENSG00000103942 chr15:82851200-82851200;A/G missense_variant False HOMEZ@p.V340A 1 0.136 ENSG00000290292 chr14:23276209-23276209;A/G missense_variant False HOXA11@p.P69H 1 0.156 ENSG00000005073 chr7:27184939-27184939;G/T missense_variant False HOXA7@p.S206F 1 0.389 ENSG00000122592 chr7:27154985-27154985;G/A missense_variant False HOXD9@p.N323K 1 0.056 ENSG00000128709 chr2:176124085-176124085;C/G missense_variant False HP1BP3@p.R282S 1 0.203 ENSG00000127483 chr1:20765421-20765421;C/G missense_variant False HGD@p.Q159Rfs*32 1 0.226 ENSG00000113924 chr3:120647045-120647045;CT/C frameshift_variant False HERC2@p.E2987D 1 0.667 ENSG00000128731 chr15:28179200-28179200;C/A missense_variant False H2AC1@p.G100S 1 0.082 ENSG00000164508 chr6:25726230-25726230;C/T missense_variant False HERC2@p.C2411_A2415del 1 0.125 ENSG00000128731 chr15:28202581-28202581;CAGCCAAGCACTGGCA/C inframe_deletion False H2BC15@p.D26Y 1 0.048 ENSG00000233822 chr6:27838737-27838737;G/T missense_variant False H3C4@p.T12A 1 0.051 ENSG00000197409 chr6:26197217-26197217;T/C missense_variant False H4-16@p.L50_I51insEV 1 1.0 None chr12:14770935-14770935;G/GACCTCC inframe_insertion False H4C5@p.K17M 1 0.138 ENSG00000276966 chr6:26204694-26204694;A/T missense_variant False HARS1@p.E109Vfs*9 1 0.154 ENSG00000170445 chr5:140679858-140679858;T/TGAGA frameshift_variant False HARS1@p.E307D 1 0.024 ENSG00000170445 chr5:140677019-140677019;C/G missense_variant False HASPIN@p.V324L 1 0.372 ENSG00000177602 chr17:3724905-3724905;G/T missense_variant False HCN1@p.G17V 1 0.333 ENSG00000164588 chr5:45696044-45696044;C/A missense_variant False HCN1@p.Q736_Q740dup 1 0.157 ENSG00000164588 chr5:45262373-45262373;A/ACTGCTGTACCTGCTG inframe_insertion False HCN1@p.S770N 1 0.105 ENSG00000164588 chr5:45262285-45262285;C/T missense_variant False HCN4@p.Y555D 1 0.044 ENSG00000138622 chr15:73325372-73325372;A/C missense_variant False HEATR5A@p.D1202G 1 0.417 ENSG00000129493 chr14:31323747-31323747;T/C missense_variant False HEATR5B@p.P575Qfs*20 1 1.0 ENSG00000008869 chr2:37060704-37060704;TGG/T frameshift_variant False HEATR9@p.I361V 1 0.06 ENSG00000270379 chr17:35858271-35858271;T/C missense_variant False HECTD1@p.G344E 1 0.257 ENSG00000092148 chr14:31173281-31173281;C/T missense_variant False HECTD2@p.I382Sfs*11 1 0.408 ENSG00000165338 chr10:91487723-91487723;CA/C frameshift_variant False HEG1@p.C1022Y 1 0.111 ENSG00000173706 chr3:125010447-125010447;C/T missense_variant False HELZ2@p.A2344E 1 0.202 ENSG00000130589 chr20:63561197-63561197;G/T missense_variant False HELZ2@p.P75S 1 0.15 ENSG00000130589 chr20:63572163-63572163;G/A missense_variant False HELZ2@p.R564W 1 0.241 ENSG00000130589 chr20:63568398-63568398;T/A missense_variant False HEPHL1@p.A747V 1 0.069 ENSG00000181333 chr11:94088914-94088914;C/T missense_variant False HERC1@p.N1043T 1 0.375 ENSG00000103657 chr15:63729262-63729262;T/G missense_variant False HERC1@p.Q4385Pfs*25 1 0.052 ENSG00000103657 chr15:63626106-63626106;T/TG frameshift_variant False HERC1@p.S2501L 1 0.055 ENSG00000103657 chr15:63674686-63674686;G/A missense_variant False HERC2@p.A3409V 1 0.176 ENSG00000128731 chr15:28169487-28169487;G/A missense_variant False GPR137@p.C216Y 1 0.358 ENSG00000173264 chr11:64288078-64288078;G/A missense_variant False GPER1@p.F314Sfs*9 1 0.263 ENSG00000164850 chr7:1092657-1092657;A/ACCTCGCCG frameshift_variant False FOXI3@p.G232W 1 0.096 ENSG00000214336 chr2:88448776-88448776;C/A missense_variant False GABRR3@p.T355I 1 0.381 ENSG00000183185 chr3:97992892-97992892;G/A missense_variant False GAK@p.L964R 1 0.12 ENSG00000178950 chr4:866516-866516;A/C missense_variant False GAK@p.L965M 1 0.12 ENSG00000178950 chr4:866514-866514;G/T missense_variant False GALNT13@p.R447H 1 0.242 ENSG00000144278 chr2:154409027-154409027;G/A missense_variant False GALNT15@p.L516V 1 0.198 ENSG00000131386 chr3:16219931-16219931;C/G missense_variant False GALNT16@p.K349T 1 0.266 ENSG00000100626 chr14:69338729-69338729;A/C missense_variant False GALNT17@p.I355F 1 0.4 ENSG00000185274 chr7:71571385-71571385;A/T missense_variant False GALNT3@p.R54K 1 0.347 ENSG00000115339 chr2:165770540-165770540;C/T missense_variant False GALNTL5@p.C253G 1 0.052 ENSG00000106648 chr7:152002812-152002812;T/G missense_variant False GALR2@p.I105Mfs*292 1 0.167 ENSG00000182687 chr17:76075197-76075197;T/TGGGCACCGTGGGCAACACGCTGGTGCTGGCGGTG frameshift_variant False GALR2@p.I105V 1 0.167 ENSG00000182687 chr17:76075196-76075196;A/G missense_variant False GARNL3@p.S634Ffs*31 1 0.417 ENSG00000136895 chr9:127355437-127355437;T/TTTGGAAACATCACAAAAATAGCATCA frameshift_variant False GAS7@p.C318_D319insCWFTWGPVFKPHLA 1 0.071 ENSG00000007237 chr17:9926700-9926700;C/CAGCCAGGTGAGGCTTAAACACGGGGCCCCACGTGAACCAGCA inframe_insertion False GAS7@p.D319Efs*35 1 0.078 ENSG00000007237 chr17:9926698-9926698;G/GAC frameshift_variant False GAS7@p.R16L 1 0.094 ENSG00000007237 chr17:10198344-10198344;C/A missense_variant False GASK1A@p.V375M 1 0.267 ENSG00000144649 chr3:43033386-43033386;G/A missense_variant False GASK1B@p.S321N 1 0.311 ENSG00000164125 chr4:158155774-158155774;C/T missense_variant False GATAD2B@p.D22N 1 0.138 ENSG00000143614 chr1:153828284-153828284;C/T missense_variant False GATAD2B@p.R460W 1 0.259 ENSG00000143614 chr1:153813291-153813291;G/A missense_variant False GBA2@p.P100Lfs*15 1 0.4 ENSG00000070610 chr9:35748406-35748406;G/GACCTTCCCAGTAATGCA frameshift_variant False GBA2@p.P602Q 1 0.057 ENSG00000070610 chr9:35738894-35738894;G/T missense_variant False GBF1@p.L294Q 1 0.409 ENSG00000107862 chr10:102358599-102358599;T/A missense_variant False GBF1@p.S1093T 1 0.157 ENSG00000107862 chr10:102369923-102369923;G/C missense_variant False GBF1@p.T1418_L1419insVNSGWLVVSDNMGSN 1 0.097 ENSG00000107862 chr10:102376765-102376765;C/CGGTCAACAGTGGTTGGTTAGTGGTGAGTGACAATATGGGCAGCAA inframe_insertion False GBP2@p.K205T 1 0.416 ENSG00000162645 chr1:89117588-89117588;T/G missense_variant False GBP6@p.D332H 1 0.056 ENSG00000183347 chr1:89381816-89381816;G/C missense_variant False GAD1@p.T175Kfs*48 1 0.064 ENSG00000128683 chr2:170831168-170831168;A/AAGCATGTGCAAAACTT frameshift_variant False GABRR1@p.R165C 1 0.714 ENSG00000146276 chr6:89198099-89198099;G/A missense_variant False GBP6@p.V94A 1 0.173 ENSG00000183347 chr1:89369636-89369636;T/C missense_variant False GABRG2@p.S100N 1 0.785 ENSG00000113327 chr5:162095534-162095534;G/A missense_variant False FOXO3@p.A267T 1 0.2 ENSG00000118689 chr6:108663632-108663632;G/A missense_variant False FOXP1@p.L81S 1 0.185 ENSG00000285708 chr3:71112576-71112576;A/G missense_variant False FOXP2@p.K582T 1 0.108 ENSG00000128573 chr7:114662162-114662162;A/C missense_variant False FOXR1@p.R161W 1 0.056 ENSG00000176302 chr11:118979538-118979538;C/T missense_variant False FPR3@p.V111G 1 0.308 ENSG00000187474 chr19:51824080-51824080;T/G missense_variant False FRAS1@p.A2596V 1 0.6 ENSG00000138759 chr4:78475542-78475542;C/T missense_variant False FREM1@p.G2148R 1 0.833 ENSG00000164946 chr9:14737494-14737494;C/T missense_variant False FREM1@p.K1388N 1 0.471 ENSG00000164946 chr9:14788932-14788932;C/G missense_variant False FREM1@p.M1238I 1 0.333 ENSG00000164946 chr9:14797623-14797623;C/T missense_variant False FREM3@p.P1907L 1 0.074 ENSG00000183090 chr4:143621096-143621096;G/A missense_variant False FRMPD4@p.K1318N 1 0.197 ENSG00000169933 chrX:12718780-12718780;G/T missense_variant False FRY@p.T1950K 1 0.097 ENSG00000073910 chr13:32237417-32237417;C/A missense_variant False FSBP@p.S8Y 1 0.132 ENSG00000265817 chr8:94436846-94436846;G/T missense_variant False FSIP2@p.I5844L 1 0.138 ENSG00000188738 chr2:185806836-185806836;A/C missense_variant False FSIP2@p.S4287Rfs*14 1 0.081 ENSG00000188738 chr2:185802166-185802166;G/GGGGTTTTGCTATGTTGCGCAGGCTGGTCTCAAACTCC frameshift_variant False FTSJ3@p.R398G 1 0.093 ENSG00000108592 chr17:63823915-63823915;G/C missense_variant False FUCA1@p.A394Efs*25 1 0.103 ENSG00000179163 chr1:23846153-23846153;G/GGCATTCCTGCTGAACCGCTCTT frameshift_variant False FUCA1@p.A394_V395insS 1 0.103 ENSG00000179163 chr1:23846152-23846152;A/ACTC inframe_insertion False FUCA2@p.N219* 1 0.4 ENSG00000001036 chr6:143504010-143504010;T/TTA frameshift_variant False FUT5@p.G190R 1 0.255 ENSG00000130383 chr19:5867158-5867158;C/G missense_variant False FXN@p.G137D 1 0.111 ENSG00000285130 chr9:69064963-69064963;G/A missense_variant False FXYD5@p.Q70H 1 0.36 ENSG00000089327 chr19:35160719-35160719;A/T missense_variant False FZD7@p.V316Lfs*253 1 0.062 ENSG00000155760 chr2:202035591-202035591;G/GCCTACCCTAC frameshift_variant False G0S2@p.L42Rfs*81 1 0.348 ENSG00000123689 chr1:209675807-209675807;C/CCGTTCTTTGGTGG frameshift_variant False GABRA4@p.D53E 1 0.308 ENSG00000109158 chr4:46992874-46992874;G/C missense_variant False GBP6@p.E2K 1 0.414 ENSG00000183347 chr1:89368555-89368555;G/A missense_variant False GBP7@p.H432Afs*12 1 0.149 ENSG00000213512 chr1:89147638-89147638;G/GC frameshift_variant False GPC5@p.Q28H 1 0.16 ENSG00000179399 chr13:91399130-91399130;G/T missense_variant False GLIS1@p.R294W 1 0.185 ENSG00000174332 chr1:53594548-53594548;G/A missense_variant False GLRA2@p.P130Q 1 0.44 ENSG00000101958 chrX:14581301-14581301;C/A missense_variant False GLYATL3@p.A162E 1 0.101 ENSG00000203972 chr6:49526532-49526532;C/A missense_variant False GLYR1@p.H218Y 1 0.206 ENSG00000140632 chr16:4822904-4822904;G/A missense_variant False GMIP@p.P147Gfs*49 1 0.25 ENSG00000089639 chr19:19640183-19640183;G/GGAGCTGAGATCGCACCATTGCACCC frameshift_variant False GNA14@p.A85S 1 0.148 ENSG00000156049 chr9:77529125-77529125;C/A missense_variant False GNAZ@p.D201E 1 0.148 ENSG00000128266 chr22:23096298-23096298;C/G missense_variant False GNE@p.F287C 1 0.067 ENSG00000159921 chr9:36234042-36234042;A/C missense_variant False GNPTAB@p.E98D 1 0.25 ENSG00000111670 chr12:101789967-101789967;T/A missense_variant False GOLGA2@p.D116V 1 0.588 ENSG00000167110 chr9:128268126-128268126;T/A missense_variant False GOLGA4@p.K716I 1 0.688 ENSG00000144674 chr3:37324033-37324033;A/T missense_variant False GOLGA6A@p.R199W 1 0.091 ENSG00000159289 chr15:74075955-74075955;G/A missense_variant False GOLGA6L2@p.A633E 1 0.333 ENSG00000174450 chr15:23440577-23440577;G/T missense_variant False GOLGA6L2@p.N479K 1 0.083 ENSG00000174450 chr15:23441038-23441038;A/C missense_variant False GOLGA6L6@p.L220F 1 0.214 ENSG00000277322 chr15:20536428-20536428;G/A missense_variant False GOLGA8J@p.G320R 1 0.389 ENSG00000179938 chr15:30089783-30089783;G/A missense_variant False GOLGA8M@p.G320R 1 0.339 ENSG00000261480 chr15:28705656-28705656;C/T missense_variant False GOLGA8S@p.D498N 1 0.042 ENSG00000261739 chr15:23364569-23364569;G/A missense_variant False GOLGB1@p.T1185N 1 0.2 ENSG00000173230 chr3:121696729-121696729;G/T missense_variant False GOLIM4@p.S56_L57insTLHTIHHPAV 1 0.75 ENSG00000173905 chr3:168095117-168095117;G/GGACTGCAGGATGGTGAATGGTATGTAGTGT inframe_insertion False GORASP2@p.N240I 1 0.095 ENSG00000115806 chr2:170956455-170956455;A/T missense_variant False GOT2@p.S205Rfs*47 1 0.5 ENSG00000125166 chr16:58718283-58718283;A/ACCTCAGGTGATCCACCTGCCTCGAC frameshift_variant False GOT2@p.V206Rfs*38 1 0.5 ENSG00000125166 chr16:58718282-58718282;C/CG frameshift_variant False GPALPP1@p.G205E 1 0.273 ENSG00000133114 chr13:45015505-45015505;G/A missense_variant False GPANK1@p.W268Lfs*12 1 0.227 ENSG00000204438 chr6:31662536-31662536;G/GC frameshift_variant False GPBP1@p.R74H 1 0.28 ENSG00000062194 chr5:57231131-57231131;G/A missense_variant False GLP1R@p.L268H 1 0.75 ENSG00000112164 chr6:39073749-39073749;T/A missense_variant False GLI3@p.A803V 1 0.034 ENSG00000106571 chr7:41967619-41967619;G/A missense_variant False GCC2@p.L1186Qfs*32 1 0.333 ENSG00000135968 chr2:108484253-108484253;T/TCAGTTCA frameshift_variant False GLDN@p.A75Tfs*29 1 0.367 ENSG00000186417 chr15:51341902-51341902;GCCGCGCGCCGCGCGGGGCGT/G frameshift_variant False GCNT7@p.R217G 1 0.323 ENSG00000124091 chr20:56495253-56495253;G/C missense_variant False GDAP1@p.T221N 1 0.231 ENSG00000104381 chr8:74363021-74363021;C/A missense_variant False GDAP1L1@p.E133K 1 0.261 ENSG00000124194 chr20:44258457-44258457;G/A missense_variant False GDF3@p.K248E 1 0.574 ENSG00000184344 chr12:7690231-7690231;T/C missense_variant False GDI2@p.K173N 1 0.111 ENSG00000057608 chr10:5785920-5785920;C/A missense_variant False GGA2@p.T346S 1 0.065 ENSG00000103365 chr16:23479858-23479858;T/A missense_variant False GGCX@p.E651Dfs*47 1 0.786 ENSG00000115486 chr2:85550685-85550685;GC/G frameshift_variant False GGPS1@p.C205W 1 0.238 ENSG00000152904 chr1:235342484-235342484;T/G missense_variant False GGT1@p.I237T 1 0.588 ENSG00000100031 chr22:24621047-24621047;T/C missense_variant False GIMAP6@p.P14H 1 0.476 ENSG00000133561 chr7:150630102-150630102;G/T missense_variant False GIMAP8@p.R402W 1 0.067 ENSG00000171115 chr7:150474533-150474533;C/T missense_variant False GIN1@p.K71M 1 0.037 ENSG00000145723 chr5:103106837-103106837;T/A missense_variant False GIPR@p.Q138H 1 0.542 ENSG00000010310 chr19:45674103-45674103;G/T missense_variant False GIPR@p.V139F 1 0.539 ENSG00000010310 chr19:45674104-45674104;G/T missense_variant False GIT1@p.R325G 1 0.431 ENSG00000108262 chr17:29577653-29577653;G/C missense_variant False GJA1@p.H142L 1 0.182 ENSG00000152661 chr6:121447272-121447272;A/T missense_variant False GJA5@p.P88A 1 0.213 ENSG00000265107 chr1:147758977-147758977;G/C missense_variant False GJA8@p.P308H 1 0.547 ENSG00000121634 chr1:147908878-147908878;C/A missense_variant False GJB2@p.K221E 1 0.111 ENSG00000165474 chr13:20188921-20188921;T/C missense_variant False GK5@p.R154Q 1 0.25 ENSG00000175066 chr3:142198884-142198884;C/T missense_variant False GK@p.V488I 1 0.267 ENSG00000198814 chrX:30720956-30720956;G/A missense_variant False GKAP1@p.D22H 1 0.639 ENSG00000165113 chr9:83806454-83806454;C/G missense_variant False GKN1@p.S93Pfs*27 1 0.442 ENSG00000169605 chr2:68978939-68978939;GC/G frameshift_variant False GLDC@p.E542K 1 0.099 ENSG00000178445 chr9:6588659-6588659;C/T missense_variant False GLDC@p.Q208P 1 0.235 ENSG00000178445 chr9:6610204-6610204;T/G missense_variant False ZZZ3@p.W680R 1 0.2 ENSG00000036549 chr1:77579571-77579571;A/G missense_variant False