PDMR-186277~243-T~JWEHT2K41-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AATKp.G591S
Missense
SNP
0.587
2--
ABCB11p.R313H
Missense
SNP
0.378
2--
ABL1p.V205I
Missense
SNP
0.458
2--
ACADSp.S360N
Missense
SNP
0.507
2--
ACTC1-
-
-
-
1Loss-
ADAM15p.A343S
Missense
SNP
0.138
2--
ADAMDEC1p.N250S
Missense
SNP
0.494
2--
ADAMTS9p.T998M
Missense
SNP
0.176
2--
ADGRD1p.A511T
Missense
SNP
0.394
2--
ADORA2B-
-
-
-
2-TTC19--ADORA2B
ADRB3p.A81T
Missense
SNP
0.463
2--
AK8p.R179S
Missense
SNP
0.506
2--
AKAP12p.V966I
Missense
SNP
0.484
2--
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ALAS2p.D102Y
Missense
SNP
0.140
NDND-
ALKp.A585T
p.W386C
Missense
Missense
SNP
SNP
0.517
0.182
2--
AMDHD2p.V322M
Missense
SNP
0.278
2--
ANKK1p.A542D
Missense
SNP
0.114
2--
APCDD1Lp.A369D
Missense
SNP
0.204
2--
APOBp.L3381*
p.R3136H
Nonsense
Missense
SNP
SNP
0.513
0.511
2--
ARFGEF3p.A1867T
Missense
SNP
0.510
2--
ARHGAP31p.P140S
Missense
SNP
0.400
2--
ARHGAP9p.E85K
Missense
SNP
0.447
2--
ARHGEF10Lp.V366M
Missense
SNP
0.541
2--
ARL2p.R104W
Missense
SNP
0.472
2--
ASAP2p.R320*
Nonsense
SNP
0.522
2--
ASB2p.Y425H
Missense
SNP
0.360
2--
ATG4D-
-
-
-
3Gain-
ATP10Ap.R209Q
Missense
SNP
0.410
2--
ATP2B2p.R718H
Missense
SNP
0.448
2--
AXLp.A877T
Missense
SNP
0.510
2--
BACH1p.R240H
Missense
SNP
0.487
2--
BCAT1p.L42P
Missense
SNP
0.530
2--
BNC1p.R404C
Missense
SNP
0.492
2--
BOLLp.X130_splice
Splice_Site
SNP
0.451
2--
BSNp.P533L
Missense
SNP
0.578
2--
BTBD9p.M69I
Missense
SNP
0.463
2--
C12orf50-
-
-
-
3Gain-
C12orf71p.R69C
Missense
SNP
0.519
2--
C14orf39p.I340V
Missense
SNP
0.473
2--
C17orf98-
-
-
-
2-NMT1--C17orf98
C1orf94p.A490V
Missense
SNP
0.496
2--
C1QTNF4p.P3L
Missense
SNP
0.525
2--
C20orf196p.R154W
Missense
SNP
0.520
NDND-
C2orf16p.V343I
Missense
SNP
0.600
2--
C2orf42p.R411W
Missense
SNP
0.531
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C7orf49p.A31V
Missense
SNP
0.500
NDND-
CACNA1Gp.G888D
Missense
SNP
0.404
2--
CACNA1Hp.R208H
Missense
SNP
0.487
2--
CACNA2D1p.S633L
Missense
SNP
0.609
2--
CACNA2D4p.R1093*
Nonsense
SNP
0.619
2--
CADM2-
-
-
-
3Gain-
CARD11p.V1128I
Missense
SNP
0.503
2--
CASK-
-
-
-
NDNDCASK--SPANXN4
CATSPER4-
-
-
-
3Gain-
CBLN2p.L202P
Missense
SNP
0.500
2--
CCDC153p.R77Q
Missense
SNP
0.113
2--
CCKBRp.R213W
Missense
SNP
0.558
2--
CCNL2p.A241T
Missense
SNP
0.491
2--
CD52-
-
-
-
3Gain-
CDH22p.S322G
p.G201S
Missense
Missense
SNP
SNP
0.446
0.503
2--
CDH26p.A162T
Missense
SNP
0.468
2--
CDH6p.V123I
Missense
SNP
0.497
2--
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CECR6p.A392T
Missense
SNP
0.394
NDND-
CELF2p.A374V
Missense
SNP
0.540
2--
CELF3p.P274L
Missense
SNP
0.374
2--
CELSR3p.Q1217P
Missense
SNP
0.394
2--
CENPIp.S370C
Missense
SNP
0.449
NDND-
CEP131p.A488V
Missense
SNP
0.633
2--
CEP170Bp.R72C
Missense
SNP
0.545
2--
CEP85-
-
-
-
3Gain-
CERCAMp.E321*
Nonsense
SNP
0.460
2--
CFAP47p.T543M
Missense
SNP
0.267
NDND-
CFAP54p.T2918M
Missense
SNP
0.204
2--
CFHR1p.R248*
Nonsense
SNP
0.470
2--
CHATp.E345K
Missense
SNP
0.476
2--
CHD7p.L1187S
Missense
SNP
0.514
2--
CHD8p.A1603V
Missense
SNP
0.611
2--
CHD9p.R1935W
Missense
SNP
0.486
2--
CHRNA4p.V571I
p.R354C
Missense
Missense
SNP
SNP
0.529
0.525
2--
CHRNEp.V147I
Missense
SNP
0.514
2--
CHST8p.A381V
p.D410Y
Missense
Missense
SNP
SNP
0.507
0.442
2--
CITp.R743W
Missense
SNP
0.494
2--
CLCN5p.R51*
Nonsense
SNP
0.429
NDND-
CNKSR1-
-
-
-
3Gain-
COLEC11p.V268M
Missense
SNP
0.564
2--
CORO2Ap.R202S
Missense
SNP
0.488
2--
CORO6p.G231C
Missense
SNP
0.106
2--
CORO7p.R474C
Missense
SNP
0.490
2--
CRB1p.E710V
Missense
SNP
0.623
2--
CRISPLD2-
-
-
-
2-USP10--CRISPLD2
CRYBG2-
-
-
-
3Gain-
CSMD2p.R1367H
Missense
SNP
0.476
2--
CSNK1Dp.T184M
Missense
SNP
0.416
2--
CSNK1Ep.L173P
Missense
SNP
0.377
2--
CTCFp.R377C
Missense
SNP
0.432
2--
CTTNBP2p.V1361I
p.A215T
Missense
Missense
SNP
SNP
0.506
0.482
2--
CXorf57p.W351*
Nonsense
SNP
0.228
NDND-
DACH1-
-
-
-
3Gain-
DCBLD2p.R427H
Missense
SNP
0.517
2--
DCCp.R41H
Missense
SNP
0.523
2--
DCT-
-
-
-
3Gain-
DDX1p.I511V
Missense
SNP
0.122
2--
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DGKBp.R285C
Missense
SNP
0.560
2--
DHX38p.R203*
Nonsense
SNP
0.456
2--
DIDO1p.P1261S
Missense
SNP
0.116
2--
DIP2Cp.K968E
Missense
SNP
0.500
2--
DLATp.S202L
Missense
SNP
0.495
2--
DLG2p.R786W
p.R765*
p.V296I
Missense
Nonsense
Missense
SNP
SNP
SNP
0.531
0.530
0.506
2--
DLG4p.R578H
Missense
SNP
0.487
2--
DLGAP2p.R58C
Missense
SNP
0.438
2--
DMBT1p.S723L
Missense
SNP
0.512
2--
DNAH6p.T2762A
Missense
SNP
0.485
2--
DNAH7p.R1486H
Missense
SNP
0.505
2--
DNAJB13p.S24P
Missense
SNP
0.445
2--
DNAJC13p.V680I
Missense
SNP
0.527
2--
DOCK10p.E1969K
Missense
SNP
0.485
2--
DOCK2-
-
-
-
1Loss-
DOCK9p.A1021V
Missense
SNP
0.380
2--
DPY19L1p.R602*
Nonsense
SNP
0.369
2--
DSCAMp.D1784N
Missense
SNP
0.308
2--
DUOXA1p.A25V
Missense
SNP
0.137
2--
DUSP8p.P72L
Missense
SNP
0.596
2--
EBNA1BP2p.P339H
Missense
SNP
0.559
2--
ECE1p.D671N
Missense
SNP
0.520
2--
EDIL3p.A208T
Missense
SNP
0.435
2--
EFCAB7p.I505F
Missense
SNP
0.363
2--
ELOVL2p.R258Q
Missense
SNP
0.415
2--
EML3p.R190S
Missense
SNP
0.491
2--
EMX1p.R209C
Missense
SNP
0.174
2--
EPHA8p.V234M
Missense
SNP
0.597
2--
EPHB4p.V689I
Missense
SNP
0.502
2--
ESCO2p.R552*
Nonsense
SNP
0.516
2--
ESF1-
-
-
-
3Gain-
FAM110D-
-
-
-
3Gain-
FAM114A1p.V551I
Missense
SNP
0.458
2--
FAM3Dp.T18M
Missense
SNP
0.568
2--
FAM71F2p.V77M
Missense
SNP
0.517
2--
FAM83Ap.R318H
Missense
SNP
0.552
2--
FBN2p.R2833H
Missense
SNP
0.481
2--
FBN3p.R1331W
Missense
SNP
0.434
2--
FBXL7p.R307H
Missense
SNP
0.478
2--
FBXW5p.R422H
Missense
SNP
0.496
2--
FBXW7p.G557*
Nonsense
SNP
0.510
2--
FGD1p.G11R
Missense
SNP
0.346
NDND-
FLG2-
-
-
-
3Gain-
FLNCp.M2250T
Missense
SNP
0.506
2--
FLRT3-
-
-
-
3Gain-
FOXK1p.A545V
Missense
SNP
0.232
2--
FPGT-TNNI3Kp.R46C
Missense
SNP
0.493
2--
FSIP2p.A5873T
Missense
SNP
0.448
2--
GAS1p.A246G
Missense
SNP
0.116
2--
GBE1-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GLIS3p.W538C
Missense
SNP
0.405
2--
GLUD2p.R151H
Missense
SNP
0.400
NDND-
GNAI2p.A327T
Missense
SNP
0.544
2--
GNEp.R160Q
Missense
SNP
0.456
2--
GOLGA6Bp.R208W
Missense
SNP
0.174
2--
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GPC1p.R120W
Missense
SNP
0.462
2--
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPR119p.V269M
Missense
SNP
0.533
NDND-
GPR146p.G99S
Missense
SNP
0.634
2--
GPR35p.A311T
Missense
SNP
0.520
2--
GPR78p.R117C
Missense
SNP
0.511
2--
GREB1p.T1945M
Missense
SNP
0.442
2--
GRHL3p.A318V
Missense
SNP
0.432
2--
GRIA1p.V819M
Missense
SNP
0.392
2--
GRK1p.P292L
Missense
SNP
0.491
2--
GSPT2p.V576M
Missense
SNP
0.520
NDND-
GUCY2Cp.R464C
Missense
SNP
0.519
2--
HCN3p.T166M
Missense
SNP
0.512
2--
HECTD1p.R2108Q
Missense
SNP
0.536
2--
HERC1p.R2330C
Missense
SNP
0.499
2--
HERC5p.R600H
Missense
SNP
0.527
2--
HIRAp.P556L
Missense
SNP
0.290
2--
HMGCS2p.R206H
Missense
SNP
0.487
2--
HNF1Ap.R263C
Missense
SNP
0.478
2--
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST3A1p.R384H
Missense
SNP
0.540
2--
IFFO1p.P193S
Missense
SNP
0.463
2--
IFT122p.R1247C
Missense
SNP
0.526
2--
IFT140p.A973T
Missense
SNP
0.519
2--
IGDCC3p.R157C
Missense
SNP
0.369
2--
IGF2p.R46H
Missense
SNP
0.480
2--
IL1R2p.V107I
Missense
SNP
0.492
2--
INAp.L426P
Missense
SNP
0.101
2--
INO80Cp.S96I
Missense
SNP
0.107
2--
INPP5Fp.D886Y
Missense
SNP
0.253
2--
INSM2p.R454C
Missense
SNP
0.446
2--
INSRRp.R869*
p.V50M
Nonsense
Missense
SNP
SNP
0.426
0.500
2--
INSYN2B-
-
-
-
1Loss-
INVSp.I1013M
Missense
SNP
0.290
2--
IQCB1-
-
-
-
3Gain-
IRF2BP2p.S318W
Missense
SNP
0.461
2--
ISL1p.R197W
Missense
SNP
0.459
2--
ISM1-
-
-
-
3Gain-
ITGA11p.A60T
Missense
SNP
0.435
2--
ITGA2Bp.G1022S
Missense
SNP
0.482
2--
IWS1p.A320V
Missense
SNP
0.441
2--
KANSL2p.P155H
Missense
SNP
0.255
2--
KAT8p.R98W
Missense
SNP
0.464
2--
KCNH6p.A701V
Missense
SNP
0.472
2--
KCNN2p.A326T
Missense
SNP
0.528
2--
KCNT1p.V134I
Missense
SNP
0.587
2--
KCNT2p.D1075Y
Missense
SNP
0.585
2--
KCTD3p.P166H
Missense
SNP
0.401
2--
KDM4Ap.R498H
Missense
SNP
0.505
2--
KEAP1-
-
-
-
3Gain-
KIAA0355p.S359L
Missense
SNP
0.577
2--
KIAA0930p.S327L
Missense
SNP
0.299
2--
KIAA1549Lp.A1798V
Missense
SNP
0.493
2--
KIF14p.R1624H
Missense
SNP
0.364
2--
KIF16Bp.R661H
Missense
SNP
0.479
2--
KIF26Ap.R82G
Missense
SNP
0.425
2--
KIF2Bp.V279A
Missense
SNP
0.432
2--
KIF3Bp.M440T
Missense
SNP
0.439
2--
KIRRELp.R108H
p.R423C
Missense
Missense
SNP
SNP
0.513
0.600
NDND-
KLHDC7Ap.T669M
Missense
SNP
0.481
2--
KLHL1-
-
-
-
3Gain-
KLHL9p.V542I
Missense
SNP
0.482
2--
KRI1-
-
-
-
3Gain-
KRT73p.G27D
Missense
SNP
0.368
2--
LAD1p.P357H
Missense
SNP
0.524
2--
LAMA1p.D1473N
Missense
SNP
0.503
2--
LAMA2p.R242H
Missense
SNP
0.489
2--
LLGL2p.R651C
Missense
SNP
0.514
2--
LRFN1p.R670*
Nonsense
SNP
0.406
2--
LRP1Bp.C4417*
p.S229T
Nonsense
Missense
SNP
SNP
0.507
0.570
2--
LRRC4p.T62M
Missense
SNP
0.459
2--
LRRC66p.A378V
Missense
SNP
0.529
2--
LRRK2p.R1462H
Missense
SNP
0.371
2--
LRRTM4p.R232H
Missense
SNP
0.397
2--
LY6Dp.A99T
Missense
SNP
0.495
2--
MACROD2-
-
-
-
3Gain-
MANSC1p.A245T
Missense
SNP
0.528
2--
MAOAp.W397R
Missense
SNP
0.417
NDND-
MAP3K10p.R468W
Missense
SNP
0.423
2--
MAP3K15p.E759D
Missense
SNP
0.463
NDND-
MCM3APp.V1358A
Missense
SNP
0.471
2--
MEGF6p.R226C
Missense
SNP
0.551
2--
MIS18BP1p.G1101V
Missense
SNP
0.442
2--
MKL2p.R612Q
Missense
SNP
0.485
NDND-
MLH1p.T117M
p.L555R
Missense
Missense
SNP
SNP
0.429
0.524
2--
MLKLp.R121H
Missense
SNP
0.489
2--
MMP23B-
-
-
-
1Loss-
MOB3Ap.T151M
Missense
SNP
0.463
2--
MPLp.E168K
Missense
SNP
0.482
2--
MPP7p.R386Q
Missense
SNP
0.452
2--
MROH2Ap.R692Q
Missense
SNP
0.504
2--
MUC13p.L168I
Missense
SNP
0.403
2--
MYH10p.R283H
Missense
SNP
0.452
2--
MYH11p.T679M
Missense
SNP
0.423
2--
MYH4p.P685H
Missense
SNP
0.497
2--
MYO18Ap.R1302H
Missense
SNP
0.511
2--
MYO1Cp.R699*
Nonsense
SNP
0.500
2--
NCAM1p.E255D
Missense
SNP
0.455
2--
NDUFAF5-
-
-
-
3Gain-
NEBp.R8004H
Missense
SNP
0.497
2--
NEUROD1p.W22*
Nonsense
SNP
0.673
2--
NF1p.G1702C
Missense
SNP
0.497
2--
NFE2L1p.R705H
Missense
SNP
0.476
2--
NLRC5p.R1377*
Nonsense
SNP
0.589
2--
NMT1-
-
-
-
2-NMT1--C17orf98
NOTCH3p.A2070V
Missense
SNP
0.453
2--
NPAP1p.G894*
Nonsense
SNP
0.384
2--
NPTX2p.V421M
Missense
SNP
0.525
2--
NRXN1p.T3M
Missense
SNP
0.404
2--
NSD1p.L757M
Missense
SNP
0.437
2--
NT5Mp.A215V
Missense
SNP
0.401
2--
NTRK3p.L115R
Missense
SNP
0.510
2--
OLFM4-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2W1-
-
-
-
3Gain-
OR4X1p.R120H
Missense
SNP
0.117
2--
OR5H6p.V63A
Missense
SNP
0.392
2--
OR5K3p.M39V
Missense
SNP
0.402
2--
OR6C1p.L80M
Missense
SNP
0.446
2--
OTOFp.R656W
p.V483I
Missense
Missense
SNP
SNP
0.605
0.452
2--
P3H2p.L10P
Missense
SNP
0.515
2--
PABPC4L-
-
-
-
3Gain-
PAGE1p.R11H
Missense
SNP
0.509
NDND-
PARD6Bp.R121H
Missense
SNP
0.498
2--
PBX1p.R288Q
Missense
SNP
0.440
2--
PCDH10-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA12p.A537T
Missense
SNP
0.515
2--
PCDHA6p.R269W
Missense
SNP
0.474
2--
PCDHA7p.S683L
Missense
SNP
0.470
2--
PCDHA8p.R623C
Missense
SNP
0.518
2--
PCDHB16p.A693V
Missense
SNP
0.370
2--
PCDHGA5p.T559M
p.Y564*
Missense
Nonsense
SNP
SNP
0.479
0.469
2--
PCDHGB3p.Y606C
Missense
SNP
0.598
2--
PCLOp.K4192R
Missense
SNP
0.406
2--
PCNPp.T79M
Missense
SNP
0.583
2--
PDE1Bp.E293K
Missense
SNP
0.505
2--
PDZD4p.R331W
Missense
SNP
0.488
NDND-
PFKLp.G120D
Missense
SNP
0.485
2--
PHIPp.E1086K
Missense
SNP
0.444
2--
PHLDB2p.R901Q
Missense
SNP
0.459
2--
PIK3CAp.C420R
Missense
SNP
0.473
2--
PJA1p.R343C
Missense
SNP
0.486
NDND-
PKHD1L1p.G2711S
Missense
SNP
0.475
2--
PLA2G4Ap.T21M
Missense
SNP
0.442
2--
PLB1p.W714*
Nonsense
SNP
0.477
2--
PLECp.R4265W
p.V3380M
Missense
Missense
SNP
SNP
0.101
0.497
2--
PLEKHG1p.R676W
Missense
SNP
0.514
2--
PLEKHG4p.A871T
Missense
SNP
0.414
2--
PLEKHG4Bp.V412I
Missense
SNP
0.478
2--
PLEKHH3p.R495H
Missense
SNP
0.392
2--
PLIN4p.E43D
Missense
SNP
0.410
2--
PLPPR2p.P351L
Missense
SNP
0.493
2--
PLXNA4p.T721M
Missense
SNP
0.448
2--
PLXNB2p.V1245M
Missense
SNP
0.519
2--
PLXNB3p.A1234V
Missense
SNP
0.527
NDND-
PMP22p.A114V
Missense
SNP
0.454
2--
PNMAL2p.A119V
Missense
SNP
0.487
NDND-
PNPT1p.V397I
Missense
SNP
0.465
2--
POLR3Bp.R768H
Missense
SNP
0.458
2--
POU4F2p.Y363C
Missense
SNP
0.415
2--
PPP2R2Bp.R365S
Missense
SNP
0.324
2--
PRAG1-
-
-
-
1Loss-
PRAM1p.T649M
Missense
SNP
0.496
2--
PRAMEF1-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRKACGp.D167N
Missense
SNP
0.500
2--
PRKG2p.Q344R
Missense
SNP
0.394
2--
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRRT2p.V383I
Missense
SNP
0.457
2--
PSMD6p.D413N
Missense
SNP
0.563
2--
PSTKp.R36H
Missense
SNP
0.158
2--
PTCHD3p.W668C
Missense
SNP
0.510
2--
PTGFRNp.R96Q
Missense
SNP
0.518
2--
PTGIRp.A120V
Missense
SNP
0.514
2--
PTK7p.A941V
Missense
SNP
0.412
2--
PTPRFp.V1871M
Missense
SNP
0.457
2--
PTPRTp.T605M
Missense
SNP
0.483
2--
PTPRZ1p.G1941C
Missense
SNP
0.492
2--
QSOX2p.R367W
Missense
SNP
0.488
2--
RAB11FIP2p.T183M
Missense
SNP
0.514
2--
RAB41p.S41R
Missense
SNP
0.247
NDND-
RALBP1p.R527H
Missense
SNP
0.442
2--
RASAL2p.K381N
Missense
SNP
0.461
2--
RAVER2p.A264V
Missense
SNP
0.265
2--
RBM26p.P355H
Missense
SNP
0.510
2--
RBM4p.R198C
Missense
SNP
0.487
2--
RDXp.R379*
Nonsense
SNP
0.525
2--
REPS1p.R183H
Missense
SNP
0.588
2--
REPS2p.R655C
Missense
SNP
0.406
NDND-
REV3Lp.R2003Q
Missense
SNP
0.499
2--
RFTN1p.S78L
Missense
SNP
0.536
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RHBDL3p.R108H
Missense
SNP
0.375
2--
RP11-310K10.1p.L477V
Missense
SNP
0.535
NDND-
RPS11p.Y95C
Missense
SNP
0.471
2--
RPTN-
-
-
-
3Gain-
RPTORp.A591V
Missense
SNP
0.157
2--
RRAGAp.R313H
Missense
SNP
0.476
2--
RRP1Bp.L184P
Missense
SNP
0.106
2--
RSPH3p.R369*
Nonsense
SNP
0.532
2--
RWDD2Bp.R254H
Missense
SNP
0.500
2--
RYR2p.V452I
p.V1579M
Missense
Missense
SNP
SNP
0.474
0.579
2--
S1PR5-
-
-
-
3Gain-
SAMD9p.Q21R
Missense
SNP
0.516
2--
SAXO1p.A309T
Missense
SNP
0.111
2--
SCN2Ap.D1808N
Missense
SNP
0.532
2--
SEL1L2-
-
-
-
3Gain-
SEMA3Ep.R605Q
Missense
SNP
0.501
2--
SEMA3Gp.R378H
Missense
SNP
0.465
2--
SEMA4Dp.R283Q
Missense
SNP
0.513
2--
SEMA6Dp.T1045M
Missense
SNP
0.516
2--
SEPT12p.V312I
Missense
SNP
0.443
2--
SETD5p.R1074Q
Missense
SNP
0.174
2--
SEZ6Lp.A69V
Missense
SNP
0.453
2--
SFXN2p.R34H
Missense
SNP
0.298
2--
SGPP2p.V80I
Missense
SNP
0.474
2--
SH3BGRL3-
-
-
-
3Gain-
SH3D19p.G558*
Nonsense
SNP
0.343
2--
SHISA8p.T195N
Missense
SNP
0.520
2--
SI-
-
-
-
3Gain-
SIT1p.Q109H
Missense
SNP
0.523
2--
SIX6p.A40S
Missense
SNP
0.104
2--
SKA3p.R105C
Missense
SNP
0.110
2--
SKOR1p.P251S
Missense
SNP
0.431
2--
SLC13A1p.T286M
Missense
SNP
0.510
2--
SLC16A14p.A406T
Missense
SNP
0.510
2--
SLC1A6p.T457M
Missense
SNP
0.502
2--
SLC20A2-
-
-
-
1Loss-
SLC22A11p.R86C
Missense
SNP
0.512
2--
SLC25A28p.E153K
Missense
SNP
0.478
2--
SLC26A1p.R439*
Nonsense
SNP
0.610
2--
SLC26A10p.R389C
Missense
SNP
0.514
2--
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC4A2p.H453Y
Missense
SNP
0.521
2--
SLC5A7p.G198R
Missense
SNP
0.404
2--
SLC6A15p.L717V
Missense
SNP
0.440
2--
SLC6A3p.V471I
Missense
SNP
0.596
2--
SLC7A11-
-
-
-
3Gain-
SLC9A1p.V414I
Missense
SNP
0.515
2--
SLIT1p.R697*
Nonsense
SNP
0.521
2--
SLIT2p.R461H
Missense
SNP
0.484
2--
SLITRK1-
-
-
-
3Gain-
SLITRK5p.A599T
Missense
SNP
0.463
3Gain-
SLITRK6-
-
-
-
3Gain-
SLX4p.R558Q
Missense
SNP
0.407
2--
SMIM19-
-
-
-
1Loss-
SMURF2p.R427C
Missense
SNP
0.411
2--
SMYD1p.P160S
Missense
SNP
0.438
2--
SNAP91p.E91D
Missense
SNP
0.485
2--
SOD3p.R233H
Missense
SNP
0.476
2--
SOX7p.G276S
Missense
SNP
0.488
2--
SOX8p.A326V
Missense
SNP
0.574
2--
SPAG1p.R248Q
Missense
SNP
0.493
2--
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPANXN4-
-
-
-
NDNDCASK--SPANXN4
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPEGp.P722H
Missense
SNP
0.500
2--
SPHK1p.L15P
Missense
SNP
0.101
2--
SPTBN2p.R86W
Missense
SNP
0.547
2--
SPTLC3-
-
-
-
3Gain-
SRCAPp.R758C
Missense
SNP
0.125
2--
SRGAP3p.D461N
Missense
SNP
0.434
2--
SRRM5p.Q508*
Nonsense
SNP
0.508
2--
STK11IPp.V726M
Missense
SNP
0.473
2--
STMN4p.L118M
Missense
SNP
0.346
2--
STOML2p.K178T
Missense
SNP
0.444
2--
SUPT16Hp.R474Q
Missense
SNP
0.550
2--
SYPL2p.T206M
Missense
SNP
0.518
2--
TAS1R2p.A746T
Missense
SNP
0.522
2--
TASP1-
-
-
-
3Gain-
TBC1D10Bp.R625W
Missense
SNP
0.440
2--
TCHH-
-
-
-
3Gain-
TCP1p.R318H
Missense
SNP
0.591
2--
TENM4p.R2191C
Missense
SNP
0.439
2--
TEX14p.L732V
Missense
SNP
0.477
2--
TGFAp.V96M
Missense
SNP
0.474
2--
THSD7Bp.R204H
Missense
SNP
0.441
2--
TMEM116p.A182T
Missense
SNP
0.567
2--
TMEM200Cp.A130T
Missense
SNP
0.445
2--
TMEM39Bp.R410C
Missense
SNP
0.511
2--
TMEM63Bp.R27H
Missense
SNP
0.493
2--
TMEM98p.A8V
Missense
SNP
0.400
2--
TNCp.R1236H
Missense
SNP
0.557
2--
TNFRSF13Bp.A245T
Missense
SNP
0.277
2--
TNFRSF6Bp.V292I
Missense
SNP
0.500
2--
TNFRSF9p.R215W
Missense
SNP
0.513
2--
TNNT1p.R39C
Missense
SNP
0.506
2--
TNXBp.T3376M
Missense
SNP
0.540
2--
TOPORSp.R260*
Nonsense
SNP
0.510
2--
TPRA1p.R97W
Missense
SNP
0.402
2--
TRAK1p.R401C
Missense
SNP
0.420
2--
TRANK1p.A1667T
Missense
SNP
0.476
2--
TRAPPC1p.R127H
Missense
SNP
0.521
2--
TRIM27-
-
-
-
3Gain-
TSC2p.R628H
Missense
SNP
0.278
2--
TTC19-
-
-
-
2-TTC19--ADORA2B
TTC38p.D197N
Missense
SNP
0.430
2--
TTLL4p.A818V
Missense
SNP
0.500
2--
UBXN11-
-
-
-
3Gain-
UHRF1BP1Lp.R762Q
Missense
SNP
0.492
2--
USP10-
-
-
-
2-USP10--CRISPLD2
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP36p.A219T
Missense
SNP
0.440
2--
USP42p.R1113C
Missense
SNP
0.495
2--
UTP20p.T1412M
Missense
SNP
0.535
2--
UTRNp.R3102Q
Missense
SNP
0.496
2--
WASF2p.T5M
Missense
SNP
0.551
2--
WDR11p.R286C
Missense
SNP
0.485
2--
WDR27p.A839V
Missense
SNP
0.554
2--
WDR33p.E1063K
Missense
SNP
0.495
2--
WDR5Bp.V206I
Missense
SNP
0.486
2--
WDR97p.A605T
Missense
SNP
0.532
2--
WLSp.A150V
Missense
SNP
0.484
2--
ZAP70p.V127M
Missense
SNP
0.504
2--
ZC3H11Ap.V249I
Missense
SNP
0.507
2--
ZCCHC4p.R455C
Missense
SNP
0.439
2--
ZDBF2p.S2212L
Missense
SNP
0.509
2--
ZMYM5p.R527Q
Missense
SNP
0.465
2--
ZNF229p.R582Q
Missense
SNP
0.513
2--
ZNF311-
-
-
-
3Gain-
ZNF439p.R314H
Missense
SNP
0.482
2--
ZNF593-
-
-
-
3Gain-
ZNF689p.V422M
Missense
SNP
0.510
2--
ZNF805p.G349D
Missense
SNP
0.402
2--
ZNF83p.A477V
Missense
SNP
0.521
2--
ZNF835p.R388W
Missense
SNP
0.423
2--
ZSCAN18p.R131H
Missense
SNP
0.397
2--
ZSWIM3p.R641C
Missense
SNP
0.494
2--
ZXDAp.A240V
Missense
SNP
0.543
NDND-