| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| AATK | p.G591S | Missense | SNP | 0.587 | 2 | - | - |
| ABCB11 | p.R313H | Missense | SNP | 0.378 | 2 | - | - |
| ABL1 | p.V205I | Missense | SNP | 0.458 | 2 | - | - |
| ACADS | p.S360N | Missense | SNP | 0.507 | 2 | - | - |
| ACTC1 | - | - | - | - | 1 | Loss | - |
| ADAM15 | p.A343S | Missense | SNP | 0.138 | 2 | - | - |
| ADAMDEC1 | p.N250S | Missense | SNP | 0.494 | 2 | - | - |
| ADAMTS9 | p.T998M | Missense | SNP | 0.176 | 2 | - | - |
| ADGRD1 | p.A511T | Missense | SNP | 0.394 | 2 | - | - |
| ADORA2B | - | - | - | - | 2 | - | TTC19--ADORA2B |
| ADRB3 | p.A81T | Missense | SNP | 0.463 | 2 | - | - |
| AK8 | p.R179S | Missense | SNP | 0.506 | 2 | - | - |
| AKAP12 | p.V966I | Missense | SNP | 0.484 | 2 | - | - |
| AL445238.1 | - | - | - | - | 3 | Gain | - |
| AL445989.1 | - | - | - | - | 3 | Gain | - |
| ALAS2 | p.D102Y | Missense | SNP | 0.140 | ND | ND | - |
| ALK | p.A585T p.W386C | Missense Missense | SNP SNP | 0.517 0.182 | 2 | - | - |
| AMDHD2 | p.V322M | Missense | SNP | 0.278 | 2 | - | - |
| ANKK1 | p.A542D | Missense | SNP | 0.114 | 2 | - | - |
| APCDD1L | p.A369D | Missense | SNP | 0.204 | 2 | - | - |
| APOB | p.L3381* p.R3136H | Nonsense Missense | SNP SNP | 0.513 0.511 | 2 | - | - |
| ARFGEF3 | p.A1867T | Missense | SNP | 0.510 | 2 | - | - |
| ARHGAP31 | p.P140S | Missense | SNP | 0.400 | 2 | - | - |
| ARHGAP9 | p.E85K | Missense | SNP | 0.447 | 2 | - | - |
| ARHGEF10L | p.V366M | Missense | SNP | 0.541 | 2 | - | - |
| ARL2 | p.R104W | Missense | SNP | 0.472 | 2 | - | - |
| ASAP2 | p.R320* | Nonsense | SNP | 0.522 | 2 | - | - |
| ASB2 | p.Y425H | Missense | SNP | 0.360 | 2 | - | - |
| ATG4D | - | - | - | - | 3 | Gain | - |
| ATP10A | p.R209Q | Missense | SNP | 0.410 | 2 | - | - |
| ATP2B2 | p.R718H | Missense | SNP | 0.448 | 2 | - | - |
| AXL | p.A877T | Missense | SNP | 0.510 | 2 | - | - |
| BACH1 | p.R240H | Missense | SNP | 0.487 | 2 | - | - |
| BCAT1 | p.L42P | Missense | SNP | 0.530 | 2 | - | - |
| BNC1 | p.R404C | Missense | SNP | 0.492 | 2 | - | - |
| BOLL | p.X130_splice | Splice_Site | SNP | 0.451 | 2 | - | - |
| BSN | p.P533L | Missense | SNP | 0.578 | 2 | - | - |
| BTBD9 | p.M69I | Missense | SNP | 0.463 | 2 | - | - |
| C12orf50 | - | - | - | - | 3 | Gain | - |
| C12orf71 | p.R69C | Missense | SNP | 0.519 | 2 | - | - |
| C14orf39 | p.I340V | Missense | SNP | 0.473 | 2 | - | - |
| C17orf98 | - | - | - | - | 2 | - | NMT1--C17orf98 |
| C1orf94 | p.A490V | Missense | SNP | 0.496 | 2 | - | - |
| C1QTNF4 | p.P3L | Missense | SNP | 0.525 | 2 | - | - |
| C20orf196 | p.R154W | Missense | SNP | 0.520 | ND | ND | - |
| C2orf16 | p.V343I | Missense | SNP | 0.600 | 2 | - | - |
| C2orf42 | p.R411W | Missense | SNP | 0.531 | 2 | - | - |
| C4A | - | - | - | - | 1 | Loss | - |
| C4B | - | - | - | - | 1 | Loss | - |
| C7orf49 | p.A31V | Missense | SNP | 0.500 | ND | ND | - |
| CACNA1G | p.G888D | Missense | SNP | 0.404 | 2 | - | - |
| CACNA1H | p.R208H | Missense | SNP | 0.487 | 2 | - | - |
| CACNA2D1 | p.S633L | Missense | SNP | 0.609 | 2 | - | - |
| CACNA2D4 | p.R1093* | Nonsense | SNP | 0.619 | 2 | - | - |
| CADM2 | - | - | - | - | 3 | Gain | - |
| CARD11 | p.V1128I | Missense | SNP | 0.503 | 2 | - | - |
| CASK | - | - | - | - | ND | ND | CASK--SPANXN4 |
| CATSPER4 | - | - | - | - | 3 | Gain | - |
| CBLN2 | p.L202P | Missense | SNP | 0.500 | 2 | - | - |
| CCDC153 | p.R77Q | Missense | SNP | 0.113 | 2 | - | - |
| CCKBR | p.R213W | Missense | SNP | 0.558 | 2 | - | - |
| CCNL2 | p.A241T | Missense | SNP | 0.491 | 2 | - | - |
| CD52 | - | - | - | - | 3 | Gain | - |
| CDH22 | p.S322G p.G201S | Missense Missense | SNP SNP | 0.446 0.503 | 2 | - | - |
| CDH26 | p.A162T | Missense | SNP | 0.468 | 2 | - | - |
| CDH6 | p.V123I | Missense | SNP | 0.497 | 2 | - | - |
| CDK11A | - | - | - | - | 1 | Loss | - |
| CDK11B | - | - | - | - | 1 | Loss | - |
| CECR6 | p.A392T | Missense | SNP | 0.394 | ND | ND | - |
| CELF2 | p.A374V | Missense | SNP | 0.540 | 2 | - | - |
| CELF3 | p.P274L | Missense | SNP | 0.374 | 2 | - | - |
| CELSR3 | p.Q1217P | Missense | SNP | 0.394 | 2 | - | - |
| CENPI | p.S370C | Missense | SNP | 0.449 | ND | ND | - |
| CEP131 | p.A488V | Missense | SNP | 0.633 | 2 | - | - |
| CEP170B | p.R72C | Missense | SNP | 0.545 | 2 | - | - |
| CEP85 | - | - | - | - | 3 | Gain | - |
| CERCAM | p.E321* | Nonsense | SNP | 0.460 | 2 | - | - |
| CFAP47 | p.T543M | Missense | SNP | 0.267 | ND | ND | - |
| CFAP54 | p.T2918M | Missense | SNP | 0.204 | 2 | - | - |
| CFHR1 | p.R248* | Nonsense | SNP | 0.470 | 2 | - | - |
| CHAT | p.E345K | Missense | SNP | 0.476 | 2 | - | - |
| CHD7 | p.L1187S | Missense | SNP | 0.514 | 2 | - | - |
| CHD8 | p.A1603V | Missense | SNP | 0.611 | 2 | - | - |
| CHD9 | p.R1935W | Missense | SNP | 0.486 | 2 | - | - |
| CHRNA4 | p.V571I p.R354C | Missense Missense | SNP SNP | 0.529 0.525 | 2 | - | - |
| CHRNE | p.V147I | Missense | SNP | 0.514 | 2 | - | - |
| CHST8 | p.A381V p.D410Y | Missense Missense | SNP SNP | 0.507 0.442 | 2 | - | - |
| CIT | p.R743W | Missense | SNP | 0.494 | 2 | - | - |
| CLCN5 | p.R51* | Nonsense | SNP | 0.429 | ND | ND | - |
| CNKSR1 | - | - | - | - | 3 | Gain | - |
| COLEC11 | p.V268M | Missense | SNP | 0.564 | 2 | - | - |
| CORO2A | p.R202S | Missense | SNP | 0.488 | 2 | - | - |
| CORO6 | p.G231C | Missense | SNP | 0.106 | 2 | - | - |
| CORO7 | p.R474C | Missense | SNP | 0.490 | 2 | - | - |
| CRB1 | p.E710V | Missense | SNP | 0.623 | 2 | - | - |
| CRISPLD2 | - | - | - | - | 2 | - | USP10--CRISPLD2 |
| CRYBG2 | - | - | - | - | 3 | Gain | - |
| CSMD2 | p.R1367H | Missense | SNP | 0.476 | 2 | - | - |
| CSNK1D | p.T184M | Missense | SNP | 0.416 | 2 | - | - |
| CSNK1E | p.L173P | Missense | SNP | 0.377 | 2 | - | - |
| CTCF | p.R377C | Missense | SNP | 0.432 | 2 | - | - |
| CTTNBP2 | p.V1361I p.A215T | Missense Missense | SNP SNP | 0.506 0.482 | 2 | - | - |
| CXorf57 | p.W351* | Nonsense | SNP | 0.228 | ND | ND | - |
| DACH1 | - | - | - | - | 3 | Gain | - |
| DCBLD2 | p.R427H | Missense | SNP | 0.517 | 2 | - | - |
| DCC | p.R41H | Missense | SNP | 0.523 | 2 | - | - |
| DCT | - | - | - | - | 3 | Gain | - |
| DDX1 | p.I511V | Missense | SNP | 0.122 | 2 | - | - |
| DEFA4 | - | - | - | - | 1 | Loss | - |
| DEFA5 | - | - | - | - | 1 | Loss | - |
| DEFA6 | - | - | - | - | 1 | Loss | - |
| DEFB1 | - | - | - | - | 1 | Loss | - |
| DEFB103A | - | - | - | - | 1 | Loss | - |
| DEFB103B | - | - | - | - | 1 | Loss | - |
| DEFB104A | - | - | - | - | 1 | Loss | - |
| DEFB104B | - | - | - | - | 1 | Loss | - |
| DEFB105A | - | - | - | - | 1 | Loss | - |
| DEFB105B | - | - | - | - | 1 | Loss | - |
| DEFB106A | - | - | - | - | 1 | Loss | - |
| DEFB106B | - | - | - | - | 1 | Loss | - |
| DEFB107A | - | - | - | - | 1 | Loss | - |
| DEFB107B | - | - | - | - | 1 | Loss | - |
| DEFB4A | - | - | - | - | 1 | Loss | - |
| DEFB4B | - | - | - | - | 1 | Loss | - |
| DGKB | p.R285C | Missense | SNP | 0.560 | 2 | - | - |
| DHX38 | p.R203* | Nonsense | SNP | 0.456 | 2 | - | - |
| DIDO1 | p.P1261S | Missense | SNP | 0.116 | 2 | - | - |
| DIP2C | p.K968E | Missense | SNP | 0.500 | 2 | - | - |
| DLAT | p.S202L | Missense | SNP | 0.495 | 2 | - | - |
| DLG2 | p.R786W p.R765* p.V296I | Missense Nonsense Missense | SNP SNP SNP | 0.531 0.530 0.506 | 2 | - | - |
| DLG4 | p.R578H | Missense | SNP | 0.487 | 2 | - | - |
| DLGAP2 | p.R58C | Missense | SNP | 0.438 | 2 | - | - |
| DMBT1 | p.S723L | Missense | SNP | 0.512 | 2 | - | - |
| DNAH6 | p.T2762A | Missense | SNP | 0.485 | 2 | - | - |
| DNAH7 | p.R1486H | Missense | SNP | 0.505 | 2 | - | - |
| DNAJB13 | p.S24P | Missense | SNP | 0.445 | 2 | - | - |
| DNAJC13 | p.V680I | Missense | SNP | 0.527 | 2 | - | - |
| DOCK10 | p.E1969K | Missense | SNP | 0.485 | 2 | - | - |
| DOCK2 | - | - | - | - | 1 | Loss | - |
| DOCK9 | p.A1021V | Missense | SNP | 0.380 | 2 | - | - |
| DPY19L1 | p.R602* | Nonsense | SNP | 0.369 | 2 | - | - |
| DSCAM | p.D1784N | Missense | SNP | 0.308 | 2 | - | - |
| DUOXA1 | p.A25V | Missense | SNP | 0.137 | 2 | - | - |
| DUSP8 | p.P72L | Missense | SNP | 0.596 | 2 | - | - |
| EBNA1BP2 | p.P339H | Missense | SNP | 0.559 | 2 | - | - |
| ECE1 | p.D671N | Missense | SNP | 0.520 | 2 | - | - |
| EDIL3 | p.A208T | Missense | SNP | 0.435 | 2 | - | - |
| EFCAB7 | p.I505F | Missense | SNP | 0.363 | 2 | - | - |
| ELOVL2 | p.R258Q | Missense | SNP | 0.415 | 2 | - | - |
| EML3 | p.R190S | Missense | SNP | 0.491 | 2 | - | - |
| EMX1 | p.R209C | Missense | SNP | 0.174 | 2 | - | - |
| EPHA8 | p.V234M | Missense | SNP | 0.597 | 2 | - | - |
| EPHB4 | p.V689I | Missense | SNP | 0.502 | 2 | - | - |
| ESCO2 | p.R552* | Nonsense | SNP | 0.516 | 2 | - | - |
| ESF1 | - | - | - | - | 3 | Gain | - |
| FAM110D | - | - | - | - | 3 | Gain | - |
| FAM114A1 | p.V551I | Missense | SNP | 0.458 | 2 | - | - |
| FAM3D | p.T18M | Missense | SNP | 0.568 | 2 | - | - |
| FAM71F2 | p.V77M | Missense | SNP | 0.517 | 2 | - | - |
| FAM83A | p.R318H | Missense | SNP | 0.552 | 2 | - | - |
| FBN2 | p.R2833H | Missense | SNP | 0.481 | 2 | - | - |
| FBN3 | p.R1331W | Missense | SNP | 0.434 | 2 | - | - |
| FBXL7 | p.R307H | Missense | SNP | 0.478 | 2 | - | - |
| FBXW5 | p.R422H | Missense | SNP | 0.496 | 2 | - | - |
| FBXW7 | p.G557* | Nonsense | SNP | 0.510 | 2 | - | - |
| FGD1 | p.G11R | Missense | SNP | 0.346 | ND | ND | - |
| FLG2 | - | - | - | - | 3 | Gain | - |
| FLNC | p.M2250T | Missense | SNP | 0.506 | 2 | - | - |
| FLRT3 | - | - | - | - | 3 | Gain | - |
| FOXK1 | p.A545V | Missense | SNP | 0.232 | 2 | - | - |
| FPGT-TNNI3K | p.R46C | Missense | SNP | 0.493 | 2 | - | - |
| FSIP2 | p.A5873T | Missense | SNP | 0.448 | 2 | - | - |
| GAS1 | p.A246G | Missense | SNP | 0.116 | 2 | - | - |
| GBE1 | - | - | - | - | 3 | Gain | - |
| GJD2 | - | - | - | - | 1 | Loss | - |
| GLIS3 | p.W538C | Missense | SNP | 0.405 | 2 | - | - |
| GLUD2 | p.R151H | Missense | SNP | 0.400 | ND | ND | - |
| GNAI2 | p.A327T | Missense | SNP | 0.544 | 2 | - | - |
| GNE | p.R160Q | Missense | SNP | 0.456 | 2 | - | - |
| GOLGA6B | p.R208W | Missense | SNP | 0.174 | 2 | - | - |
| GOLGA8A | - | - | - | - | 1 | Loss | - |
| GOLGA8B | - | - | - | - | 1 | Loss | - |
| GPC1 | p.R120W | Missense | SNP | 0.462 | 2 | - | - |
| GPC5 | - | - | - | - | 3 | Gain | - |
| GPC6 | - | - | - | - | 3 | Gain | - |
| GPR119 | p.V269M | Missense | SNP | 0.533 | ND | ND | - |
| GPR146 | p.G99S | Missense | SNP | 0.634 | 2 | - | - |
| GPR35 | p.A311T | Missense | SNP | 0.520 | 2 | - | - |
| GPR78 | p.R117C | Missense | SNP | 0.511 | 2 | - | - |
| GREB1 | p.T1945M | Missense | SNP | 0.442 | 2 | - | - |
| GRHL3 | p.A318V | Missense | SNP | 0.432 | 2 | - | - |
| GRIA1 | p.V819M | Missense | SNP | 0.392 | 2 | - | - |
| GRK1 | p.P292L | Missense | SNP | 0.491 | 2 | - | - |
| GSPT2 | p.V576M | Missense | SNP | 0.520 | ND | ND | - |
| GUCY2C | p.R464C | Missense | SNP | 0.519 | 2 | - | - |
| HCN3 | p.T166M | Missense | SNP | 0.512 | 2 | - | - |
| HECTD1 | p.R2108Q | Missense | SNP | 0.536 | 2 | - | - |
| HERC1 | p.R2330C | Missense | SNP | 0.499 | 2 | - | - |
| HERC5 | p.R600H | Missense | SNP | 0.527 | 2 | - | - |
| HIRA | p.P556L | Missense | SNP | 0.290 | 2 | - | - |
| HMGCS2 | p.R206H | Missense | SNP | 0.487 | 2 | - | - |
| HNF1A | p.R263C | Missense | SNP | 0.478 | 2 | - | - |
| HNRNPCL1 | - | - | - | - | 1 | Loss | - |
| HNRNPCL2 | - | - | - | - | 1 | Loss | - |
| HNRNPCL3 | - | - | - | - | 1 | Loss | - |
| HNRNPCL4 | - | - | - | - | 1 | Loss | - |
| HRNR | - | - | - | - | 3 | Gain | - |
| HS3ST3A1 | p.R384H | Missense | SNP | 0.540 | 2 | - | - |
| IFFO1 | p.P193S | Missense | SNP | 0.463 | 2 | - | - |
| IFT122 | p.R1247C | Missense | SNP | 0.526 | 2 | - | - |
| IFT140 | p.A973T | Missense | SNP | 0.519 | 2 | - | - |
| IGDCC3 | p.R157C | Missense | SNP | 0.369 | 2 | - | - |
| IGF2 | p.R46H | Missense | SNP | 0.480 | 2 | - | - |
| IL1R2 | p.V107I | Missense | SNP | 0.492 | 2 | - | - |
| INA | p.L426P | Missense | SNP | 0.101 | 2 | - | - |
| INO80C | p.S96I | Missense | SNP | 0.107 | 2 | - | - |
| INPP5F | p.D886Y | Missense | SNP | 0.253 | 2 | - | - |
| INSM2 | p.R454C | Missense | SNP | 0.446 | 2 | - | - |
| INSRR | p.R869* p.V50M | Nonsense Missense | SNP SNP | 0.426 0.500 | 2 | - | - |
| INSYN2B | - | - | - | - | 1 | Loss | - |
| INVS | p.I1013M | Missense | SNP | 0.290 | 2 | - | - |
| IQCB1 | - | - | - | - | 3 | Gain | - |
| IRF2BP2 | p.S318W | Missense | SNP | 0.461 | 2 | - | - |
| ISL1 | p.R197W | Missense | SNP | 0.459 | 2 | - | - |
| ISM1 | - | - | - | - | 3 | Gain | - |
| ITGA11 | p.A60T | Missense | SNP | 0.435 | 2 | - | - |
| ITGA2B | p.G1022S | Missense | SNP | 0.482 | 2 | - | - |
| IWS1 | p.A320V | Missense | SNP | 0.441 | 2 | - | - |
| KANSL2 | p.P155H | Missense | SNP | 0.255 | 2 | - | - |
| KAT8 | p.R98W | Missense | SNP | 0.464 | 2 | - | - |
| KCNH6 | p.A701V | Missense | SNP | 0.472 | 2 | - | - |
| KCNN2 | p.A326T | Missense | SNP | 0.528 | 2 | - | - |
| KCNT1 | p.V134I | Missense | SNP | 0.587 | 2 | - | - |
| KCNT2 | p.D1075Y | Missense | SNP | 0.585 | 2 | - | - |
| KCTD3 | p.P166H | Missense | SNP | 0.401 | 2 | - | - |
| KDM4A | p.R498H | Missense | SNP | 0.505 | 2 | - | - |
| KEAP1 | - | - | - | - | 3 | Gain | - |
| KIAA0355 | p.S359L | Missense | SNP | 0.577 | 2 | - | - |
| KIAA0930 | p.S327L | Missense | SNP | 0.299 | 2 | - | - |
| KIAA1549L | p.A1798V | Missense | SNP | 0.493 | 2 | - | - |
| KIF14 | p.R1624H | Missense | SNP | 0.364 | 2 | - | - |
| KIF16B | p.R661H | Missense | SNP | 0.479 | 2 | - | - |
| KIF26A | p.R82G | Missense | SNP | 0.425 | 2 | - | - |
| KIF2B | p.V279A | Missense | SNP | 0.432 | 2 | - | - |
| KIF3B | p.M440T | Missense | SNP | 0.439 | 2 | - | - |
| KIRREL | p.R108H p.R423C | Missense Missense | SNP SNP | 0.513 0.600 | ND | ND | - |
| KLHDC7A | p.T669M | Missense | SNP | 0.481 | 2 | - | - |
| KLHL1 | - | - | - | - | 3 | Gain | - |
| KLHL9 | p.V542I | Missense | SNP | 0.482 | 2 | - | - |
| KRI1 | - | - | - | - | 3 | Gain | - |
| KRT73 | p.G27D | Missense | SNP | 0.368 | 2 | - | - |
| LAD1 | p.P357H | Missense | SNP | 0.524 | 2 | - | - |
| LAMA1 | p.D1473N | Missense | SNP | 0.503 | 2 | - | - |
| LAMA2 | p.R242H | Missense | SNP | 0.489 | 2 | - | - |
| LLGL2 | p.R651C | Missense | SNP | 0.514 | 2 | - | - |
| LRFN1 | p.R670* | Nonsense | SNP | 0.406 | 2 | - | - |
| LRP1B | p.C4417* p.S229T | Nonsense Missense | SNP SNP | 0.507 0.570 | 2 | - | - |
| LRRC4 | p.T62M | Missense | SNP | 0.459 | 2 | - | - |
| LRRC66 | p.A378V | Missense | SNP | 0.529 | 2 | - | - |
| LRRK2 | p.R1462H | Missense | SNP | 0.371 | 2 | - | - |
| LRRTM4 | p.R232H | Missense | SNP | 0.397 | 2 | - | - |
| LY6D | p.A99T | Missense | SNP | 0.495 | 2 | - | - |
| MACROD2 | - | - | - | - | 3 | Gain | - |
| MANSC1 | p.A245T | Missense | SNP | 0.528 | 2 | - | - |
| MAOA | p.W397R | Missense | SNP | 0.417 | ND | ND | - |
| MAP3K10 | p.R468W | Missense | SNP | 0.423 | 2 | - | - |
| MAP3K15 | p.E759D | Missense | SNP | 0.463 | ND | ND | - |
| MCM3AP | p.V1358A | Missense | SNP | 0.471 | 2 | - | - |
| MEGF6 | p.R226C | Missense | SNP | 0.551 | 2 | - | - |
| MIS18BP1 | p.G1101V | Missense | SNP | 0.442 | 2 | - | - |
| MKL2 | p.R612Q | Missense | SNP | 0.485 | ND | ND | - |
| MLH1 | p.T117M p.L555R | Missense Missense | SNP SNP | 0.429 0.524 | 2 | - | - |
| MLKL | p.R121H | Missense | SNP | 0.489 | 2 | - | - |
| MMP23B | - | - | - | - | 1 | Loss | - |
| MOB3A | p.T151M | Missense | SNP | 0.463 | 2 | - | - |
| MPL | p.E168K | Missense | SNP | 0.482 | 2 | - | - |
| MPP7 | p.R386Q | Missense | SNP | 0.452 | 2 | - | - |
| MROH2A | p.R692Q | Missense | SNP | 0.504 | 2 | - | - |
| MUC13 | p.L168I | Missense | SNP | 0.403 | 2 | - | - |
| MYH10 | p.R283H | Missense | SNP | 0.452 | 2 | - | - |
| MYH11 | p.T679M | Missense | SNP | 0.423 | 2 | - | - |
| MYH4 | p.P685H | Missense | SNP | 0.497 | 2 | - | - |
| MYO18A | p.R1302H | Missense | SNP | 0.511 | 2 | - | - |
| MYO1C | p.R699* | Nonsense | SNP | 0.500 | 2 | - | - |
| NCAM1 | p.E255D | Missense | SNP | 0.455 | 2 | - | - |
| NDUFAF5 | - | - | - | - | 3 | Gain | - |
| NEB | p.R8004H | Missense | SNP | 0.497 | 2 | - | - |
| NEUROD1 | p.W22* | Nonsense | SNP | 0.673 | 2 | - | - |
| NF1 | p.G1702C | Missense | SNP | 0.497 | 2 | - | - |
| NFE2L1 | p.R705H | Missense | SNP | 0.476 | 2 | - | - |
| NLRC5 | p.R1377* | Nonsense | SNP | 0.589 | 2 | - | - |
| NMT1 | - | - | - | - | 2 | - | NMT1--C17orf98 |
| NOTCH3 | p.A2070V | Missense | SNP | 0.453 | 2 | - | - |
| NPAP1 | p.G894* | Nonsense | SNP | 0.384 | 2 | - | - |
| NPTX2 | p.V421M | Missense | SNP | 0.525 | 2 | - | - |
| NRXN1 | p.T3M | Missense | SNP | 0.404 | 2 | - | - |
| NSD1 | p.L757M | Missense | SNP | 0.437 | 2 | - | - |
| NT5M | p.A215V | Missense | SNP | 0.401 | 2 | - | - |
| NTRK3 | p.L115R | Missense | SNP | 0.510 | 2 | - | - |
| OLFM4 | - | - | - | - | 3 | Gain | - |
| OR14J1 | - | - | - | - | 3 | Gain | - |
| OR2B3 | - | - | - | - | 3 | Gain | - |
| OR2J1 | - | - | - | - | 3 | Gain | - |
| OR2J2 | - | - | - | - | 3 | Gain | - |
| OR2J3 | - | - | - | - | 3 | Gain | - |
| OR2W1 | - | - | - | - | 3 | Gain | - |
| OR4X1 | p.R120H | Missense | SNP | 0.117 | 2 | - | - |
| OR5H6 | p.V63A | Missense | SNP | 0.392 | 2 | - | - |
| OR5K3 | p.M39V | Missense | SNP | 0.402 | 2 | - | - |
| OR6C1 | p.L80M | Missense | SNP | 0.446 | 2 | - | - |
| OTOF | p.R656W p.V483I | Missense Missense | SNP SNP | 0.605 0.452 | 2 | - | - |
| P3H2 | p.L10P | Missense | SNP | 0.515 | 2 | - | - |
| PABPC4L | - | - | - | - | 3 | Gain | - |
| PAGE1 | p.R11H | Missense | SNP | 0.509 | ND | ND | - |
| PARD6B | p.R121H | Missense | SNP | 0.498 | 2 | - | - |
| PBX1 | p.R288Q | Missense | SNP | 0.440 | 2 | - | - |
| PCDH10 | - | - | - | - | 3 | Gain | - |
| PCDH17 | - | - | - | - | 3 | Gain | - |
| PCDH18 | - | - | - | - | 3 | Gain | - |
| PCDH7 | - | - | - | - | 3 | Gain | - |
| PCDH8 | - | - | - | - | 3 | Gain | - |
| PCDH9 | - | - | - | - | 3 | Gain | - |
| PCDHA12 | p.A537T | Missense | SNP | 0.515 | 2 | - | - |
| PCDHA6 | p.R269W | Missense | SNP | 0.474 | 2 | - | - |
| PCDHA7 | p.S683L | Missense | SNP | 0.470 | 2 | - | - |
| PCDHA8 | p.R623C | Missense | SNP | 0.518 | 2 | - | - |
| PCDHB16 | p.A693V | Missense | SNP | 0.370 | 2 | - | - |
| PCDHGA5 | p.T559M p.Y564* | Missense Nonsense | SNP SNP | 0.479 0.469 | 2 | - | - |
| PCDHGB3 | p.Y606C | Missense | SNP | 0.598 | 2 | - | - |
| PCLO | p.K4192R | Missense | SNP | 0.406 | 2 | - | - |
| PCNP | p.T79M | Missense | SNP | 0.583 | 2 | - | - |
| PDE1B | p.E293K | Missense | SNP | 0.505 | 2 | - | - |
| PDZD4 | p.R331W | Missense | SNP | 0.488 | ND | ND | - |
| PFKL | p.G120D | Missense | SNP | 0.485 | 2 | - | - |
| PHIP | p.E1086K | Missense | SNP | 0.444 | 2 | - | - |
| PHLDB2 | p.R901Q | Missense | SNP | 0.459 | 2 | - | - |
| PIK3CA | p.C420R | Missense | SNP | 0.473 | 2 | - | - |
| PJA1 | p.R343C | Missense | SNP | 0.486 | ND | ND | - |
| PKHD1L1 | p.G2711S | Missense | SNP | 0.475 | 2 | - | - |
| PLA2G4A | p.T21M | Missense | SNP | 0.442 | 2 | - | - |
| PLB1 | p.W714* | Nonsense | SNP | 0.477 | 2 | - | - |
| PLEC | p.R4265W p.V3380M | Missense Missense | SNP SNP | 0.101 0.497 | 2 | - | - |
| PLEKHG1 | p.R676W | Missense | SNP | 0.514 | 2 | - | - |
| PLEKHG4 | p.A871T | Missense | SNP | 0.414 | 2 | - | - |
| PLEKHG4B | p.V412I | Missense | SNP | 0.478 | 2 | - | - |
| PLEKHH3 | p.R495H | Missense | SNP | 0.392 | 2 | - | - |
| PLIN4 | p.E43D | Missense | SNP | 0.410 | 2 | - | - |
| PLPPR2 | p.P351L | Missense | SNP | 0.493 | 2 | - | - |
| PLXNA4 | p.T721M | Missense | SNP | 0.448 | 2 | - | - |
| PLXNB2 | p.V1245M | Missense | SNP | 0.519 | 2 | - | - |
| PLXNB3 | p.A1234V | Missense | SNP | 0.527 | ND | ND | - |
| PMP22 | p.A114V | Missense | SNP | 0.454 | 2 | - | - |
| PNMAL2 | p.A119V | Missense | SNP | 0.487 | ND | ND | - |
| PNPT1 | p.V397I | Missense | SNP | 0.465 | 2 | - | - |
| POLR3B | p.R768H | Missense | SNP | 0.458 | 2 | - | - |
| POU4F2 | p.Y363C | Missense | SNP | 0.415 | 2 | - | - |
| PPP2R2B | p.R365S | Missense | SNP | 0.324 | 2 | - | - |
| PRAG1 | - | - | - | - | 1 | Loss | - |
| PRAM1 | p.T649M | Missense | SNP | 0.496 | 2 | - | - |
| PRAMEF1 | - | - | - | - | 1 | Loss | - |
| PRAMEF18 | - | - | - | - | 1 | Loss | - |
| PRAMEF19 | - | - | - | - | 1 | Loss | - |
| PRAMEF2 | - | - | - | - | 1 | Loss | - |
| PRAMEF20 | - | - | - | - | 1 | Loss | - |
| PRKACG | p.D167N | Missense | SNP | 0.500 | 2 | - | - |
| PRKG2 | p.Q344R | Missense | SNP | 0.394 | 2 | - | - |
| PRR23D1 | - | - | - | - | 1 | Loss | - |
| PRR23D2 | - | - | - | - | 1 | Loss | - |
| PRRT2 | p.V383I | Missense | SNP | 0.457 | 2 | - | - |
| PSMD6 | p.D413N | Missense | SNP | 0.563 | 2 | - | - |
| PSTK | p.R36H | Missense | SNP | 0.158 | 2 | - | - |
| PTCHD3 | p.W668C | Missense | SNP | 0.510 | 2 | - | - |
| PTGFRN | p.R96Q | Missense | SNP | 0.518 | 2 | - | - |
| PTGIR | p.A120V | Missense | SNP | 0.514 | 2 | - | - |
| PTK7 | p.A941V | Missense | SNP | 0.412 | 2 | - | - |
| PTPRF | p.V1871M | Missense | SNP | 0.457 | 2 | - | - |
| PTPRT | p.T605M | Missense | SNP | 0.483 | 2 | - | - |
| PTPRZ1 | p.G1941C | Missense | SNP | 0.492 | 2 | - | - |
| QSOX2 | p.R367W | Missense | SNP | 0.488 | 2 | - | - |
| RAB11FIP2 | p.T183M | Missense | SNP | 0.514 | 2 | - | - |
| RAB41 | p.S41R | Missense | SNP | 0.247 | ND | ND | - |
| RALBP1 | p.R527H | Missense | SNP | 0.442 | 2 | - | - |
| RASAL2 | p.K381N | Missense | SNP | 0.461 | 2 | - | - |
| RAVER2 | p.A264V | Missense | SNP | 0.265 | 2 | - | - |
| RBM26 | p.P355H | Missense | SNP | 0.510 | 2 | - | - |
| RBM4 | p.R198C | Missense | SNP | 0.487 | 2 | - | - |
| RDX | p.R379* | Nonsense | SNP | 0.525 | 2 | - | - |
| REPS1 | p.R183H | Missense | SNP | 0.588 | 2 | - | - |
| REPS2 | p.R655C | Missense | SNP | 0.406 | ND | ND | - |
| REV3L | p.R2003Q | Missense | SNP | 0.499 | 2 | - | - |
| RFTN1 | p.S78L | Missense | SNP | 0.536 | 2 | - | - |
| RGPD1 | - | - | - | - | 0 | Del | - |
| RGPD2 | - | - | - | - | 0 | Del | - |
| RHBDL3 | p.R108H | Missense | SNP | 0.375 | 2 | - | - |
| RP11-310K10.1 | p.L477V | Missense | SNP | 0.535 | ND | ND | - |
| RPS11 | p.Y95C | Missense | SNP | 0.471 | 2 | - | - |
| RPTN | - | - | - | - | 3 | Gain | - |
| RPTOR | p.A591V | Missense | SNP | 0.157 | 2 | - | - |
| RRAGA | p.R313H | Missense | SNP | 0.476 | 2 | - | - |
| RRP1B | p.L184P | Missense | SNP | 0.106 | 2 | - | - |
| RSPH3 | p.R369* | Nonsense | SNP | 0.532 | 2 | - | - |
| RWDD2B | p.R254H | Missense | SNP | 0.500 | 2 | - | - |
| RYR2 | p.V452I p.V1579M | Missense Missense | SNP SNP | 0.474 0.579 | 2 | - | - |
| S1PR5 | - | - | - | - | 3 | Gain | - |
| SAMD9 | p.Q21R | Missense | SNP | 0.516 | 2 | - | - |
| SAXO1 | p.A309T | Missense | SNP | 0.111 | 2 | - | - |
| SCN2A | p.D1808N | Missense | SNP | 0.532 | 2 | - | - |
| SEL1L2 | - | - | - | - | 3 | Gain | - |
| SEMA3E | p.R605Q | Missense | SNP | 0.501 | 2 | - | - |
| SEMA3G | p.R378H | Missense | SNP | 0.465 | 2 | - | - |
| SEMA4D | p.R283Q | Missense | SNP | 0.513 | 2 | - | - |
| SEMA6D | p.T1045M | Missense | SNP | 0.516 | 2 | - | - |
| SEPT12 | p.V312I | Missense | SNP | 0.443 | 2 | - | - |
| SETD5 | p.R1074Q | Missense | SNP | 0.174 | 2 | - | - |
| SEZ6L | p.A69V | Missense | SNP | 0.453 | 2 | - | - |
| SFXN2 | p.R34H | Missense | SNP | 0.298 | 2 | - | - |
| SGPP2 | p.V80I | Missense | SNP | 0.474 | 2 | - | - |
| SH3BGRL3 | - | - | - | - | 3 | Gain | - |
| SH3D19 | p.G558* | Nonsense | SNP | 0.343 | 2 | - | - |
| SHISA8 | p.T195N | Missense | SNP | 0.520 | 2 | - | - |
| SI | - | - | - | - | 3 | Gain | - |
| SIT1 | p.Q109H | Missense | SNP | 0.523 | 2 | - | - |
| SIX6 | p.A40S | Missense | SNP | 0.104 | 2 | - | - |
| SKA3 | p.R105C | Missense | SNP | 0.110 | 2 | - | - |
| SKOR1 | p.P251S | Missense | SNP | 0.431 | 2 | - | - |
| SLC13A1 | p.T286M | Missense | SNP | 0.510 | 2 | - | - |
| SLC16A14 | p.A406T | Missense | SNP | 0.510 | 2 | - | - |
| SLC1A6 | p.T457M | Missense | SNP | 0.502 | 2 | - | - |
| SLC20A2 | - | - | - | - | 1 | Loss | - |
| SLC22A11 | p.R86C | Missense | SNP | 0.512 | 2 | - | - |
| SLC25A28 | p.E153K | Missense | SNP | 0.478 | 2 | - | - |
| SLC26A1 | p.R439* | Nonsense | SNP | 0.610 | 2 | - | - |
| SLC26A10 | p.R389C | Missense | SNP | 0.514 | 2 | - | - |
| SLC35E2A | - | - | - | - | 1 | Loss | - |
| SLC35E2B | - | - | - | - | 1 | Loss | - |
| SLC4A2 | p.H453Y | Missense | SNP | 0.521 | 2 | - | - |
| SLC5A7 | p.G198R | Missense | SNP | 0.404 | 2 | - | - |
| SLC6A15 | p.L717V | Missense | SNP | 0.440 | 2 | - | - |
| SLC6A3 | p.V471I | Missense | SNP | 0.596 | 2 | - | - |
| SLC7A11 | - | - | - | - | 3 | Gain | - |
| SLC9A1 | p.V414I | Missense | SNP | 0.515 | 2 | - | - |
| SLIT1 | p.R697* | Nonsense | SNP | 0.521 | 2 | - | - |
| SLIT2 | p.R461H | Missense | SNP | 0.484 | 2 | - | - |
| SLITRK1 | - | - | - | - | 3 | Gain | - |
| SLITRK5 | p.A599T | Missense | SNP | 0.463 | 3 | Gain | - |
| SLITRK6 | - | - | - | - | 3 | Gain | - |
| SLX4 | p.R558Q | Missense | SNP | 0.407 | 2 | - | - |
| SMIM19 | - | - | - | - | 1 | Loss | - |
| SMURF2 | p.R427C | Missense | SNP | 0.411 | 2 | - | - |
| SMYD1 | p.P160S | Missense | SNP | 0.438 | 2 | - | - |
| SNAP91 | p.E91D | Missense | SNP | 0.485 | 2 | - | - |
| SOD3 | p.R233H | Missense | SNP | 0.476 | 2 | - | - |
| SOX7 | p.G276S | Missense | SNP | 0.488 | 2 | - | - |
| SOX8 | p.A326V | Missense | SNP | 0.574 | 2 | - | - |
| SPAG1 | p.R248Q | Missense | SNP | 0.493 | 2 | - | - |
| SPAG11A | - | - | - | - | 1 | Loss | - |
| SPAG11B | - | - | - | - | 1 | Loss | - |
| SPANXN4 | - | - | - | - | ND | ND | CASK--SPANXN4 |
| SPATA31D3 | - | - | - | - | 1 | Loss | - |
| SPATA31D4 | - | - | - | - | 1 | Loss | - |
| SPEG | p.P722H | Missense | SNP | 0.500 | 2 | - | - |
| SPHK1 | p.L15P | Missense | SNP | 0.101 | 2 | - | - |
| SPTBN2 | p.R86W | Missense | SNP | 0.547 | 2 | - | - |
| SPTLC3 | - | - | - | - | 3 | Gain | - |
| SRCAP | p.R758C | Missense | SNP | 0.125 | 2 | - | - |
| SRGAP3 | p.D461N | Missense | SNP | 0.434 | 2 | - | - |
| SRRM5 | p.Q508* | Nonsense | SNP | 0.508 | 2 | - | - |
| STK11IP | p.V726M | Missense | SNP | 0.473 | 2 | - | - |
| STMN4 | p.L118M | Missense | SNP | 0.346 | 2 | - | - |
| STOML2 | p.K178T | Missense | SNP | 0.444 | 2 | - | - |
| SUPT16H | p.R474Q | Missense | SNP | 0.550 | 2 | - | - |
| SYPL2 | p.T206M | Missense | SNP | 0.518 | 2 | - | - |
| TAS1R2 | p.A746T | Missense | SNP | 0.522 | 2 | - | - |
| TASP1 | - | - | - | - | 3 | Gain | - |
| TBC1D10B | p.R625W | Missense | SNP | 0.440 | 2 | - | - |
| TCHH | - | - | - | - | 3 | Gain | - |
| TCP1 | p.R318H | Missense | SNP | 0.591 | 2 | - | - |
| TENM4 | p.R2191C | Missense | SNP | 0.439 | 2 | - | - |
| TEX14 | p.L732V | Missense | SNP | 0.477 | 2 | - | - |
| TGFA | p.V96M | Missense | SNP | 0.474 | 2 | - | - |
| THSD7B | p.R204H | Missense | SNP | 0.441 | 2 | - | - |
| TMEM116 | p.A182T | Missense | SNP | 0.567 | 2 | - | - |
| TMEM200C | p.A130T | Missense | SNP | 0.445 | 2 | - | - |
| TMEM39B | p.R410C | Missense | SNP | 0.511 | 2 | - | - |
| TMEM63B | p.R27H | Missense | SNP | 0.493 | 2 | - | - |
| TMEM98 | p.A8V | Missense | SNP | 0.400 | 2 | - | - |
| TNC | p.R1236H | Missense | SNP | 0.557 | 2 | - | - |
| TNFRSF13B | p.A245T | Missense | SNP | 0.277 | 2 | - | - |
| TNFRSF6B | p.V292I | Missense | SNP | 0.500 | 2 | - | - |
| TNFRSF9 | p.R215W | Missense | SNP | 0.513 | 2 | - | - |
| TNNT1 | p.R39C | Missense | SNP | 0.506 | 2 | - | - |
| TNXB | p.T3376M | Missense | SNP | 0.540 | 2 | - | - |
| TOPORS | p.R260* | Nonsense | SNP | 0.510 | 2 | - | - |
| TPRA1 | p.R97W | Missense | SNP | 0.402 | 2 | - | - |
| TRAK1 | p.R401C | Missense | SNP | 0.420 | 2 | - | - |
| TRANK1 | p.A1667T | Missense | SNP | 0.476 | 2 | - | - |
| TRAPPC1 | p.R127H | Missense | SNP | 0.521 | 2 | - | - |
| TRIM27 | - | - | - | - | 3 | Gain | - |
| TSC2 | p.R628H | Missense | SNP | 0.278 | 2 | - | - |
| TTC19 | - | - | - | - | 2 | - | TTC19--ADORA2B |
| TTC38 | p.D197N | Missense | SNP | 0.430 | 2 | - | - |
| TTLL4 | p.A818V | Missense | SNP | 0.500 | 2 | - | - |
| UBXN11 | - | - | - | - | 3 | Gain | - |
| UHRF1BP1L | p.R762Q | Missense | SNP | 0.492 | 2 | - | - |
| USP10 | - | - | - | - | 2 | - | USP10--CRISPLD2 |
| USP17L1 | - | - | - | - | 1 | Loss | - |
| USP17L3 | - | - | - | - | 1 | Loss | - |
| USP17L4 | - | - | - | - | 1 | Loss | - |
| USP17L8 | - | - | - | - | 1 | Loss | - |
| USP36 | p.A219T | Missense | SNP | 0.440 | 2 | - | - |
| USP42 | p.R1113C | Missense | SNP | 0.495 | 2 | - | - |
| UTP20 | p.T1412M | Missense | SNP | 0.535 | 2 | - | - |
| UTRN | p.R3102Q | Missense | SNP | 0.496 | 2 | - | - |
| WASF2 | p.T5M | Missense | SNP | 0.551 | 2 | - | - |
| WDR11 | p.R286C | Missense | SNP | 0.485 | 2 | - | - |
| WDR27 | p.A839V | Missense | SNP | 0.554 | 2 | - | - |
| WDR33 | p.E1063K | Missense | SNP | 0.495 | 2 | - | - |
| WDR5B | p.V206I | Missense | SNP | 0.486 | 2 | - | - |
| WDR97 | p.A605T | Missense | SNP | 0.532 | 2 | - | - |
| WLS | p.A150V | Missense | SNP | 0.484 | 2 | - | - |
| ZAP70 | p.V127M | Missense | SNP | 0.504 | 2 | - | - |
| ZC3H11A | p.V249I | Missense | SNP | 0.507 | 2 | - | - |
| ZCCHC4 | p.R455C | Missense | SNP | 0.439 | 2 | - | - |
| ZDBF2 | p.S2212L | Missense | SNP | 0.509 | 2 | - | - |
| ZMYM5 | p.R527Q | Missense | SNP | 0.465 | 2 | - | - |
| ZNF229 | p.R582Q | Missense | SNP | 0.513 | 2 | - | - |
| ZNF311 | - | - | - | - | 3 | Gain | - |
| ZNF439 | p.R314H | Missense | SNP | 0.482 | 2 | - | - |
| ZNF593 | - | - | - | - | 3 | Gain | - |
| ZNF689 | p.V422M | Missense | SNP | 0.510 | 2 | - | - |
| ZNF805 | p.G349D | Missense | SNP | 0.402 | 2 | - | - |
| ZNF83 | p.A477V | Missense | SNP | 0.521 | 2 | - | - |
| ZNF835 | p.R388W | Missense | SNP | 0.423 | 2 | - | - |
| ZSCAN18 | p.R131H | Missense | SNP | 0.397 | 2 | - | - |
| ZSWIM3 | p.R641C | Missense | SNP | 0.494 | 2 | - | - |
| ZXDA | p.A240V | Missense | SNP | 0.543 | ND | ND | - |