Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AADAC | p.I43T | Missense | SNP | 0.519 | 2 | - | - |
AATK | p.G591S | Missense | SNP | 0.649 | 2 | - | - |
ABCB11 | p.R313H | Missense | SNP | 0.348 | 2 | - | - |
ABL1 | p.V205I | Missense | SNP | 0.462 | 2 | - | - |
AC003989.1 | - | - | - | - | ND | ND | AL353705.3--AC003989.1 |
ACADS | p.S360N | Missense | SNP | 0.557 | 2 | - | - |
ACTC1 | - | - | - | - | 1 | Loss | - |
ADAMDEC1 | p.N250S | Missense | SNP | 0.389 | 2 | - | - |
ADAMTS9 | p.T998M | Missense | SNP | 0.469 | 2 | - | - |
ADGRD1 | p.A511T | Missense | SNP | 0.448 | 2 | - | - |
ADORA2B | - | - | - | - | 2 | - | TTC19--ADORA2B |
ADRB3 | p.A81T | Missense | SNP | 0.460 | 2 | - | - |
AK8 | p.R179S | Missense | SNP | 0.500 | 2 | - | - |
AKR1C2 | p.R101M | Missense | SNP | 0.467 | 2 | - | - |
AL353705.3 | - | - | - | - | ND | ND | AL353705.3--AC003989.1 |
ALAS2 | p.D102Y | Missense | SNP | 0.434 | ND | ND | - |
ALK | p.A585T | Missense | SNP | 0.537 | 2 | - | - |
AMY2A | - | - | - | - | 3 | Gain | - |
AMY2B | - | - | - | - | 3 | Gain | - |
ANKRD18B | p.G294R | Missense | SNP | 0.101 | 2 | - | - |
APOB | p.L3381* p.R3136H | Nonsense Missense | SNP SNP | 0.529 0.470 | 2 | - | - |
ARFGEF3 | p.A1867T | Missense | SNP | 0.507 | 2 | - | - |
ARHGAP9 | p.E85K | Missense | SNP | 0.457 | 2 | - | - |
ARHGEF10L | p.V366M | Missense | SNP | 0.436 | 2 | - | - |
ARL2 | p.R104W | Missense | SNP | 0.498 | 2 | - | - |
ASAP2 | p.R320* | Nonsense | SNP | 0.521 | 2 | - | - |
ATG4D | - | - | - | - | 3 | Gain | - |
ATP10A | p.R209Q | Missense | SNP | 0.455 | 2 | - | - |
ATP2B2 | p.R718H | Missense | SNP | 0.518 | 2 | - | - |
AXL | p.A877T | Missense | SNP | 0.468 | 2 | - | - |
BNC1 | p.R404C | Missense | SNP | 0.477 | 2 | - | - |
BOLL | p.X130_splice | Splice_Site | SNP | 0.559 | 2 | - | - |
BRINP3 | - | - | - | - | 3 | Gain | - |
BTBD9 | p.M69I | Missense | SNP | 0.504 | 2 | - | - |
BTNL9 | p.D467N | Missense | SNP | 0.445 | 2 | - | - |
C12orf50 | - | - | - | - | 3 | Gain | - |
C14orf39 | p.I340V | Missense | SNP | 0.539 | 2 | - | - |
C17orf98 | - | - | - | - | 2 | - | NMT1--C17orf98 |
C1orf94 | p.A490V | Missense | SNP | 0.482 | 2 | - | - |
C1QTNF4 | p.P3L | Missense | SNP | 0.484 | 2 | - | - |
C20orf196 | p.R154W | Missense | SNP | 0.505 | ND | ND | - |
C2orf16 | p.V343I | Missense | SNP | 0.418 | 2 | - | - |
C2orf42 | p.R411W | Missense | SNP | 0.532 | 2 | - | - |
C4A | - | - | - | - | 1 | Loss | - |
C4B | - | - | - | - | 1 | Loss | - |
C7orf49 | p.A31V | Missense | SNP | 0.511 | ND | ND | - |
CACNA1H | p.R208H | Missense | SNP | 0.524 | 2 | - | - |
CACNA2D1 | p.S633L | Missense | SNP | 0.418 | 2 | - | - |
CACNA2D4 | p.R1093* | Nonsense | SNP | 0.504 | 2 | - | - |
CARD11 | p.V1128I | Missense | SNP | 0.468 | 2 | - | - |
CATSPER4 | - | - | - | - | 3 | Gain | - |
CBLN2 | p.L202P | Missense | SNP | 0.474 | 2 | - | - |
CBX4 | p.A507V | Missense | SNP | 0.445 | 2 | - | - |
CCDC115 | - | - | - | - | 1 | Loss | - |
CCDC74B | - | - | - | - | 1 | Loss | - |
CCIN | p.V481M | Missense | SNP | 0.135 | 2 | - | - |
CCKBR | p.R213W | Missense | SNP | 0.516 | 2 | - | - |
CCNL2 | p.A241T | Missense | SNP | 0.506 | 2 | - | - |
CD52 | - | - | - | - | 3 | Gain | - |
CDH18 | - | - | - | - | 3 | Gain | - |
CDH22 | p.S322G p.G201S | Missense Missense | SNP SNP | 0.512 0.433 | 2 | - | - |
CDH26 | p.A162T | Missense | SNP | 0.489 | 2 | - | - |
CDH9 | - | - | - | - | 3 | Gain | - |
CDK11A | - | - | - | - | 1 | Loss | - |
CDK11B | - | - | - | - | 1 | Loss | - |
CDK14 | - | - | - | - | 1 | Loss | - |
CECR6 | p.A392T | Missense | SNP | 0.361 | ND | ND | - |
CENPI | p.S370C | Missense | SNP | 0.430 | ND | ND | - |
CEP131 | p.A488V | Missense | SNP | 0.606 | 2 | - | - |
CEP85 | - | - | - | - | 3 | Gain | - |
CERCAM | p.E321* | Nonsense | SNP | 0.512 | 2 | - | - |
CFAP69 | - | - | - | - | 1 | Loss | - |
CFHR1 | p.R248* | Nonsense | SNP | 0.544 | 2 | - | - |
CHAT | p.E345K | Missense | SNP | 0.543 | 2 | - | - |
CHD7 | p.L1187S | Missense | SNP | 0.468 | 2 | - | - |
CHD8 | p.A1603V | Missense | SNP | 0.524 | 2 | - | - |
CHD9 | p.R1935W | Missense | SNP | 0.414 | 2 | - | - |
CHRNA4 | p.R354C | Missense | SNP | 0.503 | 2 | - | - |
CHRNE | p.V147I | Missense | SNP | 0.462 | 2 | - | - |
CHST8 | p.A381V p.D410Y | Missense Missense | SNP SNP | 0.545 0.494 | 2 | - | - |
CIT | p.R743W | Missense | SNP | 0.440 | 2 | - | - |
CLCN5 | p.R51* | Nonsense | SNP | 0.323 | ND | ND | - |
CLDN12 | - | - | - | - | 1 | Loss | - |
CNKSR1 | - | - | - | - | 3 | Gain | - |
COG1 | p.M371V | Missense | SNP | 0.494 | 2 | - | - |
COL11A1 | - | - | - | - | 3 | Gain | - |
COL3A1 | - | - | - | - | 3 | Gain | - |
COL5A2 | - | - | - | - | 3 | Gain | - |
COLEC11 | p.V268M | Missense | SNP | 0.531 | 2 | - | - |
CORO2A | p.R202S | Missense | SNP | 0.508 | 2 | - | - |
CORO6 | p.G231C | Missense | SNP | 0.465 | 2 | - | - |
CORO7 | p.R474C | Missense | SNP | 0.483 | 2 | - | - |
CPE | p.R262W | Missense | SNP | 0.173 | 2 | - | - |
CRB1 | p.E710V | Missense | SNP | 0.500 | 2 | - | - |
CRYBG2 | - | - | - | - | 3 | Gain | - |
CSMD2 | p.R1367H | Missense | SNP | 0.524 | 2 | - | - |
CSNK1D | p.T184M | Missense | SNP | 0.431 | 2 | - | - |
CTCF | p.R377C | Missense | SNP | 0.531 | 2 | - | - |
CTTNBP2 | p.V1361I p.A215T | Missense Missense | SNP SNP | 0.384 0.530 | 2 | - | - |
DCBLD2 | p.R427H | Missense | SNP | 0.506 | 2 | - | - |
DCC | p.R41H | Missense | SNP | 0.455 | 2 | - | - |
DDX1 | p.I511V | Missense | SNP | 0.517 | 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 | 0.439 | 2 | - | - |
DHX38 | p.R203* | Nonsense | SNP | 0.525 | 2 | - | - |
DIDO1 | p.P1261S | Missense | SNP | 0.534 | 2 | - | - |
DIP2C | p.K968E | Missense | SNP | 0.515 | 2 | - | - |
DIRC1 | - | - | - | - | 3 | Gain | - |
DLAT | p.S202L | Missense | SNP | 0.597 | 2 | - | - |
DLG2 | p.R786W p.R765* p.V296I | Missense Nonsense Missense | SNP SNP SNP | 0.613 0.464 0.514 | 2 | - | - |
DLG4 | p.R578H | Missense | SNP | 0.471 | 2 | - | - |
DLGAP2 | p.R58C | Missense | SNP | 0.457 | 2 | - | - |
DMBT1 | p.S723L | Missense | SNP | 0.526 | 2 | - | - |
DNAH6 | p.T2762A | Missense | SNP | 0.511 | 2 | - | - |
DNAJB13 | p.S24P | Missense | SNP | 0.481 | 2 | - | - |
DNAJC13 | p.V680I | Missense | SNP | 0.445 | 2 | - | - |
DOCK10 | p.E1969K | Missense | SNP | 0.540 | 2 | - | - |
DOCK9 | p.A1021V | Missense | SNP | 0.483 | 2 | - | - |
DPY19L1 | p.R602* | Nonsense | SNP | 0.560 | 2 | - | - |
DSCAM | p.D1784N | Missense | SNP | 0.485 | 2 | - | - |
DUSP8 | p.P72L | Missense | SNP | 0.442 | 2 | - | - |
EBNA1BP2 | p.P339H | Missense | SNP | 0.412 | 2 | - | - |
ECE1 | p.D671N | Missense | SNP | 0.480 | 2 | - | - |
EDIL3 | p.A208T | Missense | SNP | 0.577 | 2 | - | - |
ELOVL2 | p.R258Q | Missense | SNP | 0.440 | 2 | - | - |
EML3 | p.R190S | Missense | SNP | 0.368 | 2 | - | - |
EPHA8 | p.V234M | Missense | SNP | 0.446 | 2 | - | - |
EPHB4 | p.V689I | Missense | SNP | 0.510 | 2 | - | - |
ERICH1 | p.A299V | Missense | SNP | 0.474 | 2 | - | - |
ESCO2 | p.R552* | Nonsense | SNP | 0.404 | 2 | - | - |
ESF1 | - | - | - | - | 3 | Gain | - |
EVC | p.T631M | Missense | SNP | 0.516 | 2 | - | - |
FAM110D | - | - | - | - | 3 | Gain | - |
FAM114A1 | p.V551I | Missense | SNP | 0.490 | 2 | - | - |
FAM171B | p.G566* | Nonsense | SNP | 0.457 | 2 | - | - |
FAM3D | p.T18M | Missense | SNP | 0.462 | 2 | - | - |
FAM71F2 | p.V77M | Missense | SNP | 0.522 | 2 | - | - |
FAM81A | p.R205I | Missense | SNP | 0.497 | 2 | - | - |
FAM83A | p.R318H | Missense | SNP | 0.448 | 2 | - | - |
FBN3 | p.R1331W | Missense | SNP | 0.440 | 2 | - | - |
FBXL7 | p.R307H | Missense | SNP | 0.549 | 2 | - | - |
FBXW5 | p.R422H | Missense | SNP | 0.414 | 2 | - | - |
FBXW7 | p.G557* | Nonsense | SNP | 0.523 | 2 | - | - |
FGD1 | p.G11R | Missense | SNP | 0.667 | ND | ND | - |
FLG | - | - | - | - | 3 | Gain | - |
FLG2 | - | - | - | - | 3 | Gain | - |
FLNC | p.M2250T | Missense | SNP | 0.462 | 2 | - | - |
FLRT3 | - | - | - | - | 3 | Gain | - |
FMN2 | p.A202V | Missense | SNP | 0.550 | 2 | - | - |
FPGT-TNNI3K | p.R46C | Missense | SNP | 0.472 | 2 | - | - |
FSIP2 | p.A5873T | Missense | SNP | 0.486 | 2 | - | - |
GABBR2 | p.R249W | Missense | SNP | 0.426 | 2 | - | - |
GBX1 | p.R82C | Missense | SNP | 0.184 | 2 | - | - |
GHR | p.P552L | Missense | SNP | 0.456 | 2 | - | - |
GJD2 | - | - | - | - | 1 | Loss | - |
GLUD2 | p.R151H | Missense | SNP | 0.519 | ND | ND | - |
GNAI2 | p.A327T | Missense | SNP | 0.475 | 2 | - | - |
GNE | p.R160Q | Missense | SNP | 0.433 | 2 | - | - |
GOLGA6B | p.R208W | Missense | SNP | 0.170 | 2 | - | - |
GOLGA8A | - | - | - | - | 1 | Loss | - |
GOLGA8B | - | - | - | - | 1 | Loss | - |
GPC1 | p.R120W | Missense | SNP | 0.495 | 2 | - | - |
GPR119 | p.V269M | Missense | SNP | 0.451 | ND | ND | - |
GPR146 | p.G99S | Missense | SNP | 0.561 | 2 | - | - |
GPR35 | p.A311T | Missense | SNP | 0.490 | 2 | - | - |
GPR78 | p.R117C | Missense | SNP | 0.487 | 2 | - | - |
GREB1 | p.T1945M | Missense | SNP | 0.438 | 2 | - | - |
GRHL3 | p.A318V | Missense | SNP | 0.527 | 2 | - | - |
GRIA1 | p.V819M | Missense | SNP | 0.516 | 2 | - | - |
GRIN2A | p.P401L | Missense | SNP | 0.397 | 2 | - | - |
GRK1 | p.P292L | Missense | SNP | 0.527 | 2 | - | - |
GRK2 | p.Y356C | Missense | SNP | 0.359 | 2 | - | - |
GSPT2 | p.V576M | Missense | SNP | 0.501 | ND | ND | - |
GTPBP10 | - | - | - | - | 1 | Loss | - |
GUCY2C | p.R464C | Missense | SNP | 0.515 | 2 | - | - |
GULP1 | - | - | - | - | 3 | Gain | - |
HCN3 | p.T166M | Missense | SNP | 0.522 | 2 | - | - |
HECTD1 | p.R2108Q | Missense | SNP | 0.537 | 2 | - | - |
HERC1 | p.R2330C | Missense | SNP | 0.522 | 2 | - | - |
HERC5 | p.R600H | Missense | SNP | 0.509 | 2 | - | - |
HIST1H2BG | p.R100H | Missense | SNP | 0.445 | 2 | - | - |
HIST1H4I | p.Y89C | Missense | SNP | 0.454 | 2 | - | - |
HMGCS2 | p.R206H | Missense | SNP | 0.484 | 2 | - | - |
HNF1A | p.R263C | Missense | SNP | 0.462 | 2 | - | - |
HNRNPCL1 | - | - | - | - | 1 | Loss | - |
HNRNPCL2 | - | - | - | - | 1 | Loss | - |
HNRNPCL3 | - | - | - | - | 1 | Loss | - |
HNRNPCL4 | - | - | - | - | 1 | Loss | - |
HRNR | - | - | - | - | 3 | Gain | - |
HS3ST3A1 | p.R384H | Missense | SNP | 0.493 | 2 | - | - |
IFFO1 | p.P193S | Missense | SNP | 0.484 | 2 | - | - |
IFT122 | p.R1247C | Missense | SNP | 0.481 | 2 | - | - |
IFT140 | p.A973T | Missense | SNP | 0.474 | 2 | - | - |
IGF2 | p.R46H | Missense | SNP | 0.537 | 2 | - | - |
IL1R2 | p.V107I | Missense | SNP | 0.500 | 2 | - | - |
IMP4 | - | - | - | - | 1 | Loss | - |
INO80C | p.S96I | Missense | SNP | 0.392 | 2 | - | - |
INSM2 | p.R454C | Missense | SNP | 0.453 | 2 | - | - |
INSRR | p.R869* p.V50M | Nonsense Missense | SNP SNP | 0.401 0.470 | 2 | - | - |
IRF2 | p.V334I | Missense | SNP | 0.564 | 2 | - | - |
IRF2BP2 | p.S318W | Missense | SNP | 0.352 | 2 | - | - |
ISL1 | p.R197W | Missense | SNP | 0.513 | 2 | - | - |
ISM1 | - | - | - | - | 3 | Gain | - |
ITGA11 | p.A60T | Missense | SNP | 0.479 | 2 | - | - |
ITGA2B | p.G1022S | Missense | SNP | 0.425 | 2 | - | - |
IWS1 | p.A320V | Missense | SNP | 0.481 | 2 | - | - |
KAT8 | p.R98W | Missense | SNP | 0.559 | 2 | - | - |
KCNN2 | p.A326T | Missense | SNP | 0.448 | 2 | - | - |
KCNT1 | p.V134I | Missense | SNP | 0.461 | 2 | - | - |
KCNT2 | p.D1075Y | Missense | SNP | 0.512 | 2 | - | - |
KCTD3 | p.P166H | Missense | SNP | 0.474 | 2 | - | - |
KDM4A | p.R498H | Missense | SNP | 0.514 | 2 | - | - |
KEAP1 | - | - | - | - | 3 | Gain | - |
KIAA0355 | p.S359L | Missense | SNP | 0.509 | 2 | - | - |
KIF16B | p.R661H | Missense | SNP | 0.471 | 2 | - | - |
KIF26A | p.R82G | Missense | SNP | 0.459 | 2 | - | - |
KIF2B | p.V279A | Missense | SNP | 0.479 | 2 | - | - |
KIRREL | p.R108H p.R423C | Missense Missense | SNP SNP | 0.516 0.473 | ND | ND | - |
KLHDC7A | p.T669M | Missense | SNP | 0.541 | 2 | - | - |
KLHL17 | p.A467T | Missense | SNP | 0.543 | 2 | - | - |
KLHL9 | p.V542I | Missense | SNP | 0.484 | 2 | - | - |
KRI1 | - | - | - | - | 3 | Gain | - |
KRTAP10-7 | p.P295S | Missense | SNP | 0.459 | 2 | - | - |
KSR1 | p.T573M | Missense | SNP | 0.468 | 2 | - | - |
LAD1 | p.P357H | Missense | SNP | 0.533 | 2 | - | - |
LAMA1 | p.D1473N | Missense | SNP | 0.496 | 2 | - | - |
LAMA2 | p.R242H | Missense | SNP | 0.513 | 2 | - | - |
LLGL2 | p.R651C | Missense | SNP | 0.545 | 2 | - | - |
LRFN1 | p.R670* | Nonsense | SNP | 0.456 | 2 | - | - |
LRP1B | p.C4417* p.S229T | Nonsense Missense | SNP SNP | 0.527 0.434 | 2 | - | - |
LRRC38 | - | - | - | - | 1 | Loss | - |
LRRC4 | p.T62M | Missense | SNP | 0.493 | 2 | - | - |
LRRC66 | p.A378V | Missense | SNP | 0.476 | 2 | - | - |
LY6D | p.A99T | Missense | SNP | 0.496 | 2 | - | - |
MACROD2 | - | - | - | - | 3 | Gain | - |
MAGI3 | p.R808W | Missense | SNP | 0.498 | 2 | - | - |
MANSC1 | p.A245T | Missense | SNP | 0.525 | 2 | - | - |
MAOA | p.W397R | Missense | SNP | 0.521 | ND | ND | - |
MAP3K10 | p.R468W | Missense | SNP | 0.484 | 2 | - | - |
MAP3K15 | p.E759D | Missense | SNP | 0.512 | ND | ND | - |
MCF2L2 | p.I90V | Missense | SNP | 0.559 | 2 | - | - |
MCM3AP | p.V1358A | Missense | SNP | 0.435 | 2 | - | - |
MEF2D | p.R483W | Missense | SNP | 0.498 | 2 | - | - |
MEGF6 | p.R226C | Missense | SNP | 0.471 | 2 | - | - |
MIS18BP1 | p.G1101V | Missense | SNP | 0.564 | 2 | - | - |
MKL2 | p.R612Q | Missense | SNP | 0.526 | ND | ND | - |
MLH1 | p.T117M p.L555R | Missense Missense | SNP SNP | 0.442 0.598 | 2 | - | - |
MLKL | p.R121H | Missense | SNP | 0.502 | 2 | - | - |
MMP23B | - | - | - | - | 1 | Loss | - |
MOB3A | p.T151M | Missense | SNP | 0.480 | 2 | - | - |
MPL | p.E168K | Missense | SNP | 0.557 | 2 | - | - |
MPP7 | p.R386Q | Missense | SNP | 0.491 | 2 | - | - |
MROH2A | p.R692Q | Missense | SNP | 0.532 | 2 | - | - |
MUC12 | p.G3150D | Missense | SNP | 0.106 | 2 | - | - |
MUC13 | p.L168I | Missense | SNP | 0.477 | 2 | - | - |
MYH10 | p.R283H | Missense | SNP | 0.487 | 2 | - | - |
MYH11 | p.T679M | Missense | SNP | 0.576 | 2 | - | - |
MYH4 | p.P685H | Missense | SNP | 0.512 | 2 | - | - |
MYO1C | p.R699* | Nonsense | SNP | 0.492 | 2 | - | - |
MZT2B | - | - | - | - | 1 | Loss | - |
NCAM1 | p.E255D | Missense | SNP | 0.413 | 2 | - | - |
NDUFAF5 | - | - | - | - | 3 | Gain | - |
NEB | p.R8004H | Missense | SNP | 0.426 | 2 | - | - |
NEUROD1 | p.W22* | Nonsense | SNP | 0.481 | 2 | - | - |
NEUROD6 | p.S322N | Missense | SNP | 0.503 | 2 | - | - |
NF1 | p.G1702C | Missense | SNP | 0.440 | 2 | - | - |
NFE2L1 | p.R705H | Missense | SNP | 0.482 | 2 | - | - |
NLRC5 | p.R1377* | Nonsense | SNP | 0.463 | 2 | - | - |
NMT1 | - | - | - | - | 2 | - | NMT1--C17orf98 |
NOTCH3 | p.A2070V p.R883* | Missense Nonsense | SNP SNP | 0.511 0.525 | 2 | - | - |
NSD1 | p.L757M | Missense | SNP | 0.519 | 2 | - | - |
NT5M | p.A215V | Missense | SNP | 0.521 | 2 | - | - |
NTNG1 | - | - | - | - | 3 | Gain | - |
NTRK3 | p.L115R | Missense | SNP | 0.490 | 2 | - | - |
OR14J1 | - | - | - | - | 3 | Gain | - |
OR2B3 | - | - | - | - | 3 | Gain | - |
OR2J1 | - | - | - | - | 3 | Gain | - |
OR2J2 | - | - | - | - | 3 | Gain | - |
OR2J3 | - | - | - | - | 3 | Gain | - |
OR2W1 | - | - | - | - | 3 | Gain | - |
OR4X1 | p.R120H | Missense | SNP | 0.453 | 2 | - | - |
OR6C1 | p.L80M | Missense | SNP | 0.556 | 2 | - | - |
OR6C65 | p.I244T | Missense | SNP | 0.455 | 2 | - | - |
OTOF | p.R656W p.V483I | Missense Missense | SNP SNP | 0.494 0.482 | 2 | - | - |
PAGE1 | p.R11H | Missense | SNP | 0.459 | ND | ND | - |
PARD6B | p.R121H | Missense | SNP | 0.490 | 2 | - | - |
PBX1 | p.R288Q | Missense | SNP | 0.459 | 2 | - | - |
PCDHA12 | p.A537T | Missense | SNP | 0.433 | 2 | - | - |
PCDHA6 | p.R269W | Missense | SNP | 0.436 | 2 | - | - |
PCDHA7 | p.S683L | Missense | SNP | 0.469 | 2 | - | - |
PCDHA8 | p.R623C | Missense | SNP | 0.534 | 2 | - | - |
PCDHB16 | p.A693V | Missense | SNP | 0.522 | 2 | - | - |
PCDHGA5 | p.T559M p.Y564* | Missense Nonsense | SNP SNP | 0.480 0.473 | 2 | - | - |
PCDHGB3 | p.Y606C | Missense | SNP | 0.560 | 2 | - | - |
PCLO | p.K4192R | Missense | SNP | 0.493 | 2 | - | - |
PCNP | p.T79M | Missense | SNP | 0.546 | 2 | - | - |
PDE1B | p.E293K | Missense | SNP | 0.456 | 2 | - | - |
PDZD4 | p.R331W | Missense | SNP | 0.454 | ND | ND | - |
PFKL | p.G120D | Missense | SNP | 0.523 | 2 | - | - |
PHIP | p.E1086K | Missense | SNP | 0.452 | 2 | - | - |
PIK3CA | p.C420R | Missense | SNP | 0.485 | 2 | - | - |
PJA1 | p.R343C | Missense | SNP | 0.492 | ND | ND | - |
PKHD1L1 | p.G2711S | Missense | SNP | 0.527 | 2 | - | - |
PLA2G4A | p.T21M | Missense | SNP | 0.472 | 3 | Gain | - |
PLB1 | p.W714* | Nonsense | SNP | 0.511 | 2 | - | - |
PLEC | p.V3380M | Missense | SNP | 0.466 | 2 | - | - |
PLEKHG1 | p.R676W | Missense | SNP | 0.528 | 2 | - | - |
PLEKHG4B | p.V412I | Missense | SNP | 0.466 | 2 | - | - |
PLEKHH3 | p.R495H | Missense | SNP | 0.452 | 2 | - | - |
PLIN4 | p.E43D | Missense | SNP | 0.463 | 2 | - | - |
PLPPR2 | p.P351L | Missense | SNP | 0.494 | 2 | - | - |
PLXNA4 | p.A1238T p.T721M | Missense Missense | SNP SNP | 0.404 0.497 | 2 | - | - |
PLXNB2 | p.V1245M | Missense | SNP | 0.496 | 2 | - | - |
PLXNB3 | p.A1234V | Missense | SNP | 0.451 | ND | ND | - |
PMP22 | p.A114V | Missense | SNP | 0.457 | 2 | - | - |
PNMAL2 | p.A119V | Missense | SNP | 0.473 | ND | ND | - |
PNPT1 | p.V397I | Missense | SNP | 0.378 | 2 | - | - |
POLR3B | p.R768H | Missense | SNP | 0.490 | 2 | - | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRAM1 | p.T649M | Missense | SNP | 0.530 | 2 | - | - |
PRAMEF1 | - | - | - | - | 1 | Loss | - |
PRAMEF18 | - | - | - | - | 1 | Loss | - |
PRAMEF19 | - | - | - | - | 1 | Loss | - |
PRAMEF2 | - | - | - | - | 1 | Loss | - |
PRAMEF20 | - | - | - | - | 1 | Loss | - |
PRELP | p.P364L | Missense | SNP | 0.504 | 2 | - | - |
PRKACG | p.D167N | Missense | SNP | 0.478 | 2 | - | - |
PRKCI | p.R405W | Missense | SNP | 0.500 | 2 | - | - |
PRKG2 | p.Q344R | Missense | SNP | 0.467 | 2 | - | - |
PRMT6 | - | - | - | - | 3 | Gain | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PSMD6 | p.D413N | Missense | SNP | 0.493 | 2 | - | - |
PTCHD3 | p.W668C | Missense | SNP | 0.526 | 2 | - | - |
PTGFRN | p.R96Q | Missense | SNP | 0.523 | 2 | - | - |
PTGIR | p.A120V | Missense | SNP | 0.547 | 2 | - | - |
PTK7 | p.A941V | Missense | SNP | 0.453 | 2 | - | - |
PTPN18 | - | - | - | - | 1 | Loss | - |
PTPRF | p.V1871M | Missense | SNP | 0.446 | 2 | - | - |
PTPRT | p.T605M | Missense | SNP | 0.490 | 2 | - | - |
PTPRZ1 | p.G1941C | Missense | SNP | 0.520 | 2 | - | - |
PUM3 | p.A553T | Missense | SNP | 0.448 | 2 | - | - |
QSOX2 | p.R367W | Missense | SNP | 0.494 | 2 | - | - |
RAB11FIP2 | p.T183M | Missense | SNP | 0.459 | 2 | - | - |
RAB6C | - | - | - | - | 1 | Loss | - |
RAC3 | p.D65N | Missense | SNP | 0.618 | 2 | - | - |
RALBP1 | p.R527H | Missense | SNP | 0.545 | 2 | - | - |
RASAL2 | p.K381N | Missense | SNP | 0.522 | 2 | - | - |
RBM26 | p.P355H | Missense | SNP | 0.457 | 2 | - | - |
RBM4 | p.R198C | Missense | SNP | 0.538 | 2 | - | - |
RDX | p.R379* | Nonsense | SNP | 0.652 | 2 | - | - |
REPS1 | p.R183H | Missense | SNP | 0.593 | 2 | - | - |
REPS2 | p.R655C | Missense | SNP | 0.447 | ND | ND | - |
REV3L | p.R2003Q | Missense | SNP | 0.529 | 2 | - | - |
RFTN1 | p.S78L | Missense | SNP | 0.483 | 2 | - | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGR | p.S114F | Missense | SNP | 0.390 | 2 | - | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RHBDL3 | p.R108H | Missense | SNP | 0.521 | 2 | - | - |
RNPC3 | - | - | - | - | 3 | Gain | - |
RP11-310K10.1 | p.L477V | Missense | SNP | 0.516 | ND | ND | - |
RPTN | - | - | - | - | 3 | Gain | - |
RRAGA | p.R313H | Missense | SNP | 0.529 | 2 | - | - |
RSPH3 | p.R369* | Nonsense | SNP | 0.588 | 2 | - | - |
RWDD2B | p.R254H | Missense | SNP | 0.467 | 2 | - | - |
RYR2 | p.V1579M | Missense | SNP | 0.658 | 2 | - | - |
S1PR5 | - | - | - | - | 3 | Gain | - |
SAMD9 | p.Q21R | Missense | SNP | 0.496 | 2 | - | - |
SCN2A | p.D1808N | Missense | SNP | 0.473 | 2 | - | - |
SEL1L2 | p.E403G | Missense | SNP | 0.147 | 3 | Gain | - |
SEMA3E | p.R605Q | Missense | SNP | 0.495 | 2 | - | - |
SEMA3G | p.R378H | Missense | SNP | 0.505 | 2 | - | - |
SEMA4D | p.R283Q | Missense | SNP | 0.570 | 2 | - | - |
SEMA6D | p.T1045M | Missense | SNP | 0.446 | 2 | - | - |
SEPT12 | p.V312I | Missense | SNP | 0.450 | 2 | - | - |
SEZ6L | p.A69V | Missense | SNP | 0.470 | 2 | - | - |
SGPP2 | p.V80I | Missense | SNP | 0.511 | 2 | - | - |
SH3BGRL3 | - | - | - | - | 3 | Gain | - |
SHISA8 | p.T195N | Missense | SNP | 0.343 | 2 | - | - |
SIT1 | p.Q109H | Missense | SNP | 0.532 | 2 | - | - |
SLC13A1 | p.T286M | Missense | SNP | 0.454 | 2 | - | - |
SLC16A14 | p.A406T | Missense | SNP | 0.399 | 2 | - | - |
SLC1A6 | p.T457M | Missense | SNP | 0.421 | 2 | - | - |
SLC22A11 | p.R86C | Missense | SNP | 0.457 | 2 | - | - |
SLC25A28 | p.E153K | Missense | SNP | 0.448 | 2 | - | - |
SLC26A1 | p.R439* | Nonsense | SNP | 0.541 | 2 | - | - |
SLC26A10 | p.R389C | Missense | SNP | 0.449 | 2 | - | - |
SLC35E2A | - | - | - | - | 1 | Loss | - |
SLC35E2B | - | - | - | - | 1 | Loss | - |
SLC4A2 | p.H453Y p.T1016M | Missense Missense | SNP SNP | 0.487 0.628 | 2 | - | - |
SLC5A7 | p.G198R | Missense | SNP | 0.412 | 2 | - | - |
SLC6A15 | p.L717V | Missense | SNP | 0.581 | 2 | - | - |
SLC6A3 | p.V471I | Missense | SNP | 0.460 | 2 | - | - |
SLC9A1 | p.V414I | Missense | SNP | 0.534 | 2 | - | - |
SLIT1 | p.R697* | Nonsense | SNP | 0.524 | 2 | - | - |
SLIT2 | p.R461H | Missense | SNP | 0.511 | 2 | - | - |
SLITRK5 | p.A599T | Missense | SNP | 0.531 | 2 | - | - |
SLX4 | p.R558Q | Missense | SNP | 0.565 | 2 | - | - |
SMPD4 | - | - | - | - | 1 | Loss | - |
SMURF2 | p.R427C | Missense | SNP | 0.424 | 2 | - | - |
SMYD1 | p.P160S | Missense | SNP | 0.492 | 2 | - | - |
SNAP91 | p.E91D | Missense | SNP | 0.583 | 2 | - | - |
SOD3 | p.R233H | Missense | SNP | 0.541 | 2 | - | - |
SON | p.R1956H | Missense | SNP | 0.414 | 2 | - | - |
SOX7 | p.G276S | Missense | SNP | 0.465 | 2 | - | - |
SOX8 | p.A326V | Missense | SNP | 0.317 | 2 | - | - |
SPAG1 | p.R248Q | Missense | SNP | 0.476 | 2 | - | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPATA31D3 | - | - | - | - | 1 | Loss | - |
SPATA31D4 | - | - | - | - | 1 | Loss | - |
SPEG | p.P722H | Missense | SNP | 0.505 | 2 | - | - |
SPTBN2 | p.R86W | Missense | SNP | 0.429 | 2 | - | - |
SPTLC3 | - | - | - | - | 3 | Gain | - |
SRCAP | p.R758C | Missense | SNP | 0.560 | 2 | - | - |
SRRM5 | p.Q508* | Nonsense | SNP | 0.444 | 2 | - | - |
SSPO | p.R436W | Missense | SNP | 0.504 | 2 | - | - |
ST6GALNAC5 | p.R122H | Missense | SNP | 0.502 | 2 | - | - |
STEAP1 | - | - | - | - | 1 | Loss | - |
STEAP2 | - | - | - | - | 1 | Loss | - |
STK11IP | p.V726M | Missense | SNP | 0.460 | 2 | - | - |
SUPT16H | p.R474Q | Missense | SNP | 0.498 | 2 | - | - |
SYPL2 | p.T206M | Missense | SNP | 0.531 | 2 | - | - |
TAS1R2 | p.A746T | Missense | SNP | 0.523 | 2 | - | - |
TASP1 | - | - | - | - | 3 | Gain | - |
TBC1D10B | p.R625W | Missense | SNP | 0.511 | 2 | - | - |
TCP1 | p.R318H | Missense | SNP | 0.571 | 2 | - | - |
TENM3 | p.A1514V | Missense | SNP | 0.471 | 2 | - | - |
TENM4 | p.R2191C | Missense | SNP | 0.473 | 2 | - | - |
TEX14 | p.L732V | Missense | SNP | 0.513 | 2 | - | - |
TGFA | p.V96M | Missense | SNP | 0.470 | 2 | - | - |
THSD7B | p.R204H | Missense | SNP | 0.429 | 2 | - | - |
TLK1 | p.R266* | Nonsense | SNP | 0.471 | 2 | - | - |
TMEM116 | p.A182T | Missense | SNP | 0.485 | 2 | - | - |
TMEM185A | p.N68S | Missense | SNP | 0.526 | ND | ND | - |
TMEM200C | p.A130T | Missense | SNP | 0.491 | 2 | - | - |
TMEM39B | p.R410C | Missense | SNP | 0.460 | 2 | - | - |
TMEM63B | p.R27H | Missense | SNP | 0.495 | 2 | - | - |
TMEM63C | p.R130H | Missense | SNP | 0.462 | 2 | - | - |
TMEM98 | p.A8V | Missense | SNP | 0.545 | 2 | - | - |
TNC | p.R1236H | Missense | SNP | 0.454 | 2 | - | - |
TNFAIP8L3 | p.R5W | Missense | SNP | 0.542 | 2 | - | - |
TNFRSF6B | p.V292I | Missense | SNP | 0.400 | 2 | - | - |
TNFRSF9 | p.R215W | Missense | SNP | 0.526 | 2 | - | - |
TNNT1 | p.R39C | Missense | SNP | 0.459 | 2 | - | - |
TNXB | p.T3376M | Missense | SNP | 0.474 | 2 | - | - |
TOPORS | p.R260* | Nonsense | SNP | 0.517 | 2 | - | - |
TPRA1 | p.R97W | Missense | SNP | 0.560 | 2 | - | - |
TRAK1 | p.R401C | Missense | SNP | 0.448 | 2 | - | - |
TRANK1 | p.A1667T | Missense | SNP | 0.408 | 2 | - | - |
TRAPPC1 | p.R127H | Missense | SNP | 0.417 | 2 | - | - |
TTC19 | - | - | - | - | 2 | - | TTC19--ADORA2B |
TTC38 | p.D197N | Missense | SNP | 0.481 | 2 | - | - |
TTLL4 | p.A818V | Missense | SNP | 0.496 | 2 | - | - |
TTN | p.E18640* | Nonsense | SNP | 0.416 | 2 | - | - |
TUBA3E | - | - | - | - | 1 | Loss | - |
TULP2 | p.R113Q | Missense | SNP | 0.487 | 2 | - | - |
UBXN11 | - | - | - | - | 3 | Gain | - |
UCHL5 | - | - | - | - | 3 | Gain | - |
UHRF1BP1L | p.R762Q | Missense | SNP | 0.520 | 2 | - | - |
ULK3 | p.S217L | Missense | SNP | 0.540 | 2 | - | - |
UPF3B | p.R358C | Missense | SNP | 0.491 | ND | ND | - |
USP17L1 | - | - | - | - | 1 | Loss | - |
USP17L3 | - | - | - | - | 1 | Loss | - |
USP17L4 | - | - | - | - | 1 | Loss | - |
USP17L8 | - | - | - | - | 1 | Loss | - |
USP36 | p.A219T | Missense | SNP | 0.468 | 2 | - | - |
USP42 | p.R1113C | Missense | SNP | 0.448 | 2 | - | - |
UTP20 | p.T1412M | Missense | SNP | 0.457 | 2 | - | - |
UTRN | p.R3102Q | Missense | SNP | 0.457 | 2 | - | - |
WASF2 | p.T5M | Missense | SNP | 0.493 | 2 | - | - |
WDR27 | p.A839V | Missense | SNP | 0.447 | 2 | - | - |
WDR33 | p.E1063K | Missense | SNP | 0.492 | 2 | - | - |
WDR5B | p.V206I | Missense | SNP | 0.499 | 2 | - | - |
WDR97 | p.A605T | Missense | SNP | 0.493 | 2 | - | - |
WLS | p.A150V | Missense | SNP | 0.455 | 2 | - | - |
ZAP70 | p.V127M | Missense | SNP | 0.500 | 2 | - | - |
ZC3H11A | p.V249I | Missense | SNP | 0.396 | 2 | - | - |
ZCCHC4 | p.R455C | Missense | SNP | 0.484 | 2 | - | - |
ZDBF2 | p.S2212L | Missense | SNP | 0.455 | 2 | - | - |
ZMYM3 | p.P216H | Missense | SNP | 0.458 | ND | ND | - |
ZMYM5 | p.R527Q | Missense | SNP | 0.465 | 2 | - | - |
ZNF112 | p.G283E | Missense | SNP | 0.489 | 2 | - | - |
ZNF229 | p.R582Q | Missense | SNP | 0.496 | 2 | - | - |
ZNF311 | - | - | - | - | 3 | Gain | - |
ZNF439 | p.R314H | Missense | SNP | 0.516 | 2 | - | - |
ZNF593 | - | - | - | - | 3 | Gain | - |
ZNF652 | p.R28H | Missense | SNP | 0.424 | 2 | - | - |
ZNF689 | p.V422M | Missense | SNP | 0.460 | 2 | - | - |
ZNF805 | p.G349D | Missense | SNP | 0.521 | 2 | - | - |
ZNF835 | p.R388W | Missense | SNP | 0.447 | 2 | - | - |
ZSCAN18 | p.R131H | Missense | SNP | 0.558 | 2 | - | - |
ZSWIM3 | p.R641C | Missense | SNP | 0.502 | 2 | - | - |
ZXDA | p.A240V | Missense | SNP | 0.560 | ND | ND | - |