PDMR-922882~316-R~FN9PW8-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCB10-
-
-
-
3GainND
ABCB5p.L567P
Missense
SNP
0.497
2-ND
ABI1-
-
-
-
3GainND
ABL2-
-
-
-
3GainND
AC092017.3-
-
-
-
3GainND
AC118470.1-
-
-
-
3GainND
AC239799.1-
-
-
-
3GainND
AC243547.3-
-
-
-
3GainND
ACBD3-
-
-
-
3GainND
ACBD5-
-
-
-
3GainND
ACBD6-
-
-
-
3GainND
ACBD7-
-
-
-
3GainND
ACKR1-
-
-
-
3GainND
ACOX1p.P168H
Missense
SNP
0.438
2-ND
ACP6-
-
-
-
3GainND
ACTA1-
-
-
-
3GainND
ACTN2-
-
-
-
3GainND
ADAM15-
-
-
-
3GainND
ADAMTS15p.V505A
Missense
SNP
0.378
2-ND
ADAMTS4-
-
-
-
3GainND
ADAMTSL1p.A429V
Missense
SNP
0.521
2-ND
ADAMTSL4-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADARB1p.R675H
Missense
SNP
0.500
2-ND
ADARB2-
-
-
-
3GainND
ADCY10-
-
-
-
3GainND
ADGRB3p.R982C
Missense
SNP
0.470
2-ND
ADIPOQp.D229G
Missense
SNP
0.610
2-ND
ADIPOR1-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADSS-
-
-
-
3GainND
AGT-
-
-
-
3GainND
AHCTF1-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIM2-
-
-
-
3GainND
AK9p.R719*
Nonsense
SNP
0.505
2-ND
AKR1C1-
-
-
-
3GainND
AKR1C2-
-
-
-
3GainND
AKR1C3-
-
-
-
3GainND
AKR1C4-
-
-
-
3GainND
AKR1C8P-
-
-
-
3GainND
AKR1E2-
-
-
-
3GainND
AKT3-
-
-
-
3GainND
AL117339.5-
-
-
-
3GainND
AL117348.2-
-
-
-
3GainND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL157392.5-
-
-
-
3GainND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
AL512785.2-
-
-
-
3GainND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
ALAS2p.R517C
Missense
SNP
0.519
NDNDND
ALDH9A1-
-
-
-
3GainND
ALPIp.N184T
Missense
SNP
0.462
2-ND
ALPK3p.S401I
Missense
SNP
0.471
2-ND
AMY2A-
-
-
-
3GainND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANGPTL2p.Q51R
Missense
SNP
0.571
2-ND
ANKRD16-
-
-
-
3GainND
ANKRD26-
-
-
-
3GainND
ANKRD30A-
-
-
-
3GainND
ANKRD30Bp.Y1319*
Nonsense
SNP
0.527
2-ND
ANKRD34A-
-
-
-
3GainND
ANKRD35-
-
-
-
3GainND
ANKRD45-
-
-
-
3GainND
ANP32E-
-
-
-
3GainND
ANXA6p.A104V
Missense
SNP
0.511
2-ND
ANXA9-
-
-
-
3GainND
APBB1IP-
-
-
-
3GainND
APCS-
-
-
-
3GainND
APH1A-
-
-
-
3GainND
APOA2-
-
-
-
3GainND
APOBEC4-
-
-
-
3GainND
AQP10-
-
-
-
3GainND
ARAP3p.X365_splice
Splice_Site
SNP
0.508
2-ND
ARF1-
-
-
-
3GainND
ARHGAP12-
-
-
-
3GainND
ARHGAP21-
-
-
-
3GainND
ARHGAP30-
-
-
-
3GainND
ARHGEF11-
-
-
-
3GainND
ARHGEF18p.Q779*
Nonsense
SNP
0.525
2-ND
ARHGEF2-
-
-
-
3GainND
ARID4B-
-
-
-
3GainND
ARL17A-
-
-
-
1LossND
ARL17B-
-
-
-
1LossND
ARL5B-
-
-
-
3GainND
ARL8A-
-
-
-
3GainND
ARMC3-
-
-
-
3GainND
ARMC4-
-
-
-
3GainND
ARNT-
-
-
-
3GainND
ARPC5-
-
-
-
3GainND
ARV1-
-
-
-
3GainND
ASB13-
-
-
-
3GainND
ASH1L-
-
-
-
3GainND
ASPM-
-
-
-
3GainND
ASTN1-
-
-
-
3GainND
ATF3-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATMp.R250*
Nonsense
SNP
0.398
2-ND
ATP1A2-
-
-
-
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP2B4-
-
-
-
3GainND
ATP5F1C-
-
-
-
3GainND
ATP6V1Dp.R95*
Nonsense
SNP
0.514
2-ND
ATP6V1G3-
-
-
-
3GainND
ATP8B2-
-
-
-
3GainND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B4GALT3-
-
-
-
3GainND
BAMBI-
-
-
-
3GainND
BATF3-
-
-
-
3GainND
BAZ2Bp.R1938*
Nonsense
SNP
0.474
2-ND
BCANp.R63W
Missense
SNP
0.285
3GainND
BCL11Bp.G680R
Missense
SNP
0.473
2-ND
BCL9-
-
-
-
3GainND
BCL9Lp.A734V
Missense
SNP
0.477
2-ND
BEND7-
-
-
-
3GainND
BGLAP-
-
-
-
3GainND
BICD2p.R450H
Missense
SNP
0.473
2-ND
BICDL1p.S36R
Missense
SNP
0.500
2-ND
BLZF1-
-
-
-
3GainND
BMI1-
-
-
-
3GainND
BNIPL-
-
-
-
3GainND
BOLA1-
-
-
-
3GainND
BPNT1-
-
-
-
3GainND
BRINP2-
-
-
-
3GainND
BRINP3p.R109H
Missense
SNP
0.274
4GainND
BROX-
-
-
-
3GainND
BTG2-
-
-
-
3GainND
C10orf113-
-
-
-
3GainND
C10orf67-
-
-
-
3GainND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf131-
-
-
-
3GainND
C1orf167p.G1387C
Missense
SNP
0.503
2-ND
C1orf189-
-
-
-
3GainND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf53-
-
-
-
3GainND
C1orf54-
-
-
-
3GainND
C1orf56-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1QL3-
-
-
-
3GainND
C2CD4D-
-
-
-
3GainND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
CA14-
-
-
-
3GainND
CACNA1E-
-
-
-
3GainND
CACNA1S-
-
-
-
3GainND
CACNB2-
-
-
-
3GainND
CACNG2p.T272M
Missense
SNP
0.482
2-ND
CACYBP-
-
-
-
3GainND
CADM3-
-
-
-
3GainND
CALML3-
-
-
-
3GainND
CALML5-
-
-
-
3GainND
CAMK1D-
-
-
-
3GainND
CAMK1G-
-
-
-
3GainND
CAMSAP2-
-
-
-
3GainND
CAPN2-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CARS2p.R341W
Missense
SNP
0.603
2-ND
CASC10-
-
-
-
3GainND
CASQ1-
-
-
-
3GainND
CATSPERE-
-
-
-
3GainND
CCDC181-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC3-
-
-
-
3GainND
CCDC7-
-
-
-
3GainND
CCNY-
-
-
-
3GainND
CCSAP-
-
-
-
3GainND
CCT3-
-
-
-
3GainND
CD160-
-
-
-
3GainND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD34-
-
-
-
3GainND
CD46-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD84-
-
-
-
3GainND
CDC123-
-
-
-
3GainND
CDC42BPA-
-
-
-
3GainND
CDC42SE1-
-
-
-
3GainND
CDC73-
-
-
-
3GainND
CDH10-
-
-
-
3GainND
CDH12-
-
-
-
3GainND
CDH18-
-
-
-
3GainND
CDH2p.N357I
Missense
SNP
0.487
2-ND
CDH23p.H1158Y
Missense
SNP
0.545
2-ND
CDH6-
-
-
-
3GainND
CDH9-
-
-
-
3GainND
CDK18-
-
-
-
3GainND
CDK9p.G50S
Missense
SNP
0.565
2-ND
CDNF-
-
-
-
3GainND
CDS2p.G359R
Missense
SNP
0.449
2-ND
CELF2-
-
-
-
3GainND
CELF3-
-
-
-
3GainND
CENPF-
-
-
-
3GainND
CENPL-
-
-
-
3GainND
CEP170-
-
-
-
3GainND
CEP350-
-
-
-
3GainND
CERS2-
-
-
-
3GainND
CFAP126-
-
-
-
3GainND
CFAP206p.D560N
Missense
SNP
0.517
2-ND
CFAP45-
-
-
-
3GainND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
1LossND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
1LossND
CFHR4-
-
-
-
3GainND
CFHR5-
-
-
-
3GainND
CGN-
-
-
-
3GainND
CHADLp.V85M
Missense
SNP
0.511
2-ND
CHD1L-
-
-
-
3GainND
CHI3L1-
-
-
-
3GainND
CHIT1-
-
-
-
3GainND
CHML-
-
-
-
3GainND
CHRM3-
-
-
-
3GainND
CHRNB2-
-
-
-
3GainND
CHTOP-
-
-
-
3GainND
CIART-
-
-
-
3GainND
CKS1B-
-
-
-
3GainND
CLEC16Ap.X70_splice
Splice_Site
SNP
0.391
2-ND
CLK2-
-
-
-
3GainND
CLUp.E16*
Nonsense
SNP
0.466
2-ND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNOT6p.R87C
Missense
SNP
0.466
2-ND
CNST-
-
-
-
3GainND
CNTN2-
-
-
-
3GainND
CNTN4p.K937N
Missense
SNP
0.456
2-ND
COA6-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COLGALT2-
-
-
-
3GainND
COMMD3-
-
-
-
3GainND
COMMD3-BMI1-
-
-
-
3GainND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COQ8A-
-
-
-
3GainND
COX20-
-
-
-
3GainND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRB1-
-
-
-
3GainND
CRCT1-
-
-
-
3GainND
CREB3L4-
-
-
-
3GainND
CREG1-
-
-
-
3GainND
CREM-
-
-
-
3GainND
CRNN-
-
-
-
3GainND
CRP-
-
-
-
3GainND
CRTC2-
-
-
-
3GainND
CSMD2p.C3275R
Missense
SNP
0.511
2-ND
CSRP1-
-
-
-
3GainND
CST3p.A129V
Missense
SNP
0.500
2-ND
CTCFp.Q486*
Nonsense
SNP
0.608
2-ND
CTNNB1p.S37F
Missense
SNP
0.517
2-ND
CTSE-
-
-
-
3GainND
CTSK-
-
-
-
3GainND
CTSS-
-
-
-
3GainND
CUBN-
-
-
-
3GainND
CUL2-
-
-
-
3GainND
CYB5R1-
-
-
-
3GainND
DACH1-
-
-
-
3GainND
DAP3-
-
-
-
3GainND
DARS2-
-
-
-
3GainND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCLRE1C-
-
-
-
3GainND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DDR2-
-
-
-
3GainND
DDX53p.A11V
Missense
SNP
0.318
NDNDND
DDX59-
-
-
-
3GainND
DEDD-
-
-
-
3GainND
DEFA4-
-
-
-
1LossND
DEFA5-
-
-
-
1LossND
DEFA6-
-
-
-
1LossND
DEFB1-
-
-
-
1LossND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DEGS1-
-
-
-
3GainND
DENND1B-
-
-
-
3GainND
DENND4B-
-
-
-
3GainND
DESI2-
-
-
-
3GainND
DGKQp.A222V
Missense
SNP
0.415
2-ND
DHTKD1-
-
-
-
3GainND
DHX9-
-
-
-
3GainND
DIP2C-
-
-
-
3GainND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DNAH1p.R2474C
p.G3706V
Missense
Missense
SNP
SNP
0.443
0.491
2-ND
DNAH14-
-
-
-
3GainND
DNAJC1-
-
-
-
3GainND
DNM3-
-
-
-
3GainND
DPM3-
-
-
-
3GainND
DPT-
-
-
-
3GainND
DSTp.A3652T
p.V674G
Missense
Missense
SNP
SNP
0.627
0.529
2-ND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DYRK1Ap.E216*
Nonsense
SNP
0.547
2-ND
DYRK3-
-
-
-
3GainND
EBLN1-
-
-
-
3GainND
ECHDC3-
-
-
-
3GainND
ECM1-
-
-
-
3GainND
ECSITp.T320M
Missense
SNP
0.492
2-ND
EDARADD-
-
-
-
3GainND
EDEM3-
-
-
-
3GainND
EFCAB2-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA3-
-
-
-
3GainND
EFNA4p.G127V
Missense
SNP
0.192
3GainND
EGLN1-
-
-
-
3GainND
EHMT2p.A832T
Missense
SNP
0.416
2-ND
EIF2D-
-
-
-
3GainND
EIF3Dp.R165H
Missense
SNP
0.421
2-ND
ELF3-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENKUR-
-
-
-
3GainND
ENSA-
-
-
-
3GainND
EPC1-
-
-
-
3GainND
EPHX1-
-
-
-
3GainND
EPRS-
-
-
-
3GainND
ERO1B-
-
-
-
3GainND
ESRRG-
-
-
-
3GainND
ETNK2-
-
-
-
3GainND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
EXO1-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
F11R-
-
-
-
3GainND
F13B-
-
-
-
3GainND
F5-
-
-
-
3GainND
FAM107B-
-
-
-
3GainND
FAM129A-
-
-
-
3GainND
FAM155Bp.A15T
Missense
SNP
0.464
NDNDND
FAM163A-
-
-
-
3GainND
FAM171A1-
-
-
-
3GainND
FAM177B-
-
-
-
3GainND
FAM186Bp.W480R
Missense
SNP
0.375
2-ND
FAM189B-
-
-
-
3GainND
FAM208B-
-
-
-
3GainND
FAM20B-
-
-
-
3GainND
FAM3Dp.T18M
Missense
SNP
0.404
2-ND
FAM71A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM89A-
-
-
-
3GainND
FASLG-
-
-
-
3GainND
FBH1-
-
-
-
3GainND
FBN2p.E1141G
Missense
SNP
0.402
2-ND
FBXO28-
-
-
-
3GainND
FBXW8p.V388D
Missense
SNP
0.529
2-ND
FCAMR-
-
-
-
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3B-
-
-
-
3GainND
FCMR-
-
-
-
3GainND
FCRL1-
-
-
-
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FER1L5p.R942H
Missense
SNP
0.472
2-ND
FH-
-
-
-
3GainND
FHOD1p.R855H
Missense
SNP
0.423
2-ND
FIBCD1p.P302S
p.E153Q
Missense
Missense
SNP
SNP
0.516
0.530
2-ND
FLAD1-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2-
-
-
-
5AmpND
FLRT2-
-
-
-
3GainND
FLVCR1-
-
-
-
3GainND
FMN2-
-
-
-
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FNDC3Bp.P72L
Missense
SNP
0.458
2-ND
FOXG1p.T380M
Missense
SNP
0.136
3GainND
FOXO4p.R97H
Missense
SNP
0.500
NDNDND
FRMD4A-
-
-
-
3GainND
FSD1p.H425Y
Missense
SNP
0.521
2-ND
FSD1Lp.R350*
Nonsense
SNP
0.427
2-ND
FUCA2p.N432K
Missense
SNP
0.473
2-ND
FZD8-
-
-
-
3GainND
G0S2-
-
-
-
3GainND
GABBR1p.G110A
Missense
SNP
0.364
2-ND
GABPB2-
-
-
-
3GainND
GABRG3p.A169V
Missense
SNP
0.478
2-ND
GAD2-
-
-
-
3GainND
GALNT2-
-
-
-
3GainND
GATA3-
-
-
-
3GainND
GATAD2B-
-
-
-
3GainND
GBA-
-
-
-
3GainND
GBGT1p.I187F
Missense
SNP
0.485
2-ND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GDI2-
-
-
-
3GainND
GDPGP1p.R202H
Missense
SNP
0.438
2-ND
GGA3p.A674V
Missense
SNP
0.492
2-ND
GGPS1-
-
-
-
3GainND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GJD4-
-
-
-
3GainND
GLMP-
-
-
-
3GainND
GLOD4p.V158F
Missense
SNP
0.481
2-ND
GLRX2-
-
-
-
3GainND
GLUL-
-
-
-
3GainND
GNG4-
-
-
-
3GainND
GNPAT-
-
-
-
3GainND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPATCH2-
-
-
-
3GainND
GPATCH4-
-
-
-
3GainND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GPR137B-
-
-
-
3GainND
GPR158-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR52-
-
-
-
3GainND
GPR89A-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GREM2-
-
-
-
3GainND
GRHL1p.I304S
Missense
SNP
0.441
2-ND
GRIN3Ap.A47T
Missense
SNP
0.487
2-ND
GTPBP4-
-
-
-
3GainND
GUK1-
-
-
-
3GainND
H3F3A-
-
-
-
3GainND
HACD1-
-
-
-
3GainND
HAPLN2-
-
-
-
3GainND
HAX1-
-
-
-
3GainND
HCN3-
-
-
-
3GainND
HDGF-
-
-
-
3GainND
HEATR1-
-
-
-
3GainND
HERC2p.A3712V
Missense
SNP
0.532
2-ND
HHAT-
-
-
-
3GainND
HHIPL2-
-
-
-
3GainND
HIBADHp.G303D
Missense
SNP
0.477
2-ND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2AB-
-
-
-
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H3PS2-
-
-
-
3GainND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HJV-
-
-
-
3GainND
HLX-
-
-
-
3GainND
HMCN1-
-
-
-
3GainND
HNRNPCL1-
-
-
-
1LossND
HNRNPCL2-
-
-
-
1LossND
HNRNPCL3-
-
-
-
1LossND
HNRNPCL4-
-
-
-
1LossND
HNRNPU-
-
-
-
3GainND
HNRNPUL1p.V747I
Missense
SNP
0.519
2-ND
HORMAD1-
-
-
-
3GainND
HOXC13p.F174S
Missense
SNP
0.522
2-ND
HRNR-
-
-
-
3GainND
HSD11B1-
-
-
-
3GainND
HSD17B7-
-
-
-
3GainND
HSPA14-
-
-
-
3GainND
HSPA6-
-
-
-
3GainND
HSPE1p.V26L
Missense
SNP
0.339
2-ND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
IDI1-
-
-
-
3GainND
IDI2-
-
-
-
3GainND
IER5-
-
-
-
3GainND
IFI16p.F552I
Missense
SNP
0.398
3GainND
IGFN1-
-
-
-
3GainND
IGSF8-
-
-
-
3GainND
IGSF9-
-
-
-
3GainND
IKBKE-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL15RA-
-
-
-
3GainND
IL19-
-
-
-
3GainND
IL20-
-
-
-
3GainND
IL24-
-
-
-
3GainND
IL2RA-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
INAVA-
-
-
-
3GainND
ING2p.R81H
Missense
SNP
0.507
2-ND
INSRR-
-
-
-
3GainND
INTS3-
-
-
-
3GainND
INTS7-
-
-
-
3GainND
IPO9-
-
-
-
3GainND
IQGAP3-
-
-
-
3GainND
IRAK1p.P109Q
Missense
SNP
0.504
NDNDND
IRF2BP2-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ITGA10-
-
-
-
3GainND
ITGA8-
-
-
-
3GainND
ITGB1-
-
-
-
3GainND
ITIH2-
-
-
-
3GainND
ITIH5-
-
-
-
3GainND
ITKp.Y182*
Nonsense
SNP
0.504
2-ND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
JADE2p.V737A
Missense
SNP
0.422
2-ND
JARID2p.R329I
Missense
SNP
0.430
2-ND
JCAD-
-
-
-
3GainND
JMJD4-
-
-
-
3GainND
JTB-
-
-
-
3GainND
KANSL1Lp.L652F
Missense
SNP
0.458
2-ND
KCNC2p.R100C
Missense
SNP
0.432
2-ND
KCNH1-
-
-
-
3GainND
KCNJ10-
-
-
-
3GainND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNN3-
-
-
-
3GainND
KCNT2-
-
-
-
3GainND
KCTD3-
-
-
-
3GainND
KDM5B-
-
-
-
3GainND
KHDC4-
-
-
-
3GainND
KIAA0040-
-
-
-
3GainND
KIAA1217-
-
-
-
3GainND
KIAA1462p.G1031E
Missense
SNP
0.344
NDNDND
KIAA1614-
-
-
-
3GainND
KIF14-
-
-
-
3GainND
KIF21B-
-
-
-
3GainND
KIF24p.A2T
Missense
SNP
0.476
2-ND
KIF26B-
-
-
-
3GainND
KIF5B-
-
-
-
3GainND
KIFAP3-
-
-
-
3GainND
KIN-
-
-
-
3GainND
KIRREL1-
-
-
-
3GainND
KISS1-
-
-
-
3GainND
KLF6-
-
-
-
3GainND
KLHDC8A-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL1-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL20-
-
-
-
3GainND
KLHL5p.Q584H
Missense
SNP
0.508
2-ND
KMO-
-
-
-
3GainND
KPRP-
-
-
-
3GainND
KRT12p.L416V
Missense
SNP
0.474
2-ND
KRT82p.A378T
Missense
SNP
0.369
2-ND
KRTCAP2-
-
-
-
3GainND
LAD1-
-
-
-
3GainND
LAMB1p.X397_splice
Splice_Site
SNP
0.389
2-ND
LAMB3-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LARP4B-
-
-
-
3GainND
LAX1-
-
-
-
3GainND
LBR-
-
-
-
3GainND
LCE1A-
-
-
-
3GainND
LCE1B-
-
-
-
3GainND
LCE1C-
-
-
-
3GainND
LCE1E-
-
-
-
3GainND
LCE1F-
-
-
-
3GainND
LCE2A-
-
-
-
3GainND
LCE2B-
-
-
-
3GainND
LCE2C-
-
-
-
3GainND
LCE2D-
-
-
-
3GainND
LCE3A-
-
-
-
3GainND
LCE3B-
-
-
-
3GainND
LCE3Cp.R67H
Missense
SNP
1.000
3GainND
LCE3D-
-
-
-
3GainND
LCE3E-
-
-
-
3GainND
LCE4A-
-
-
-
3GainND
LCE5A-
-
-
-
3GainND
LCE6A-
-
-
-
3GainND
LECT1p.M79V
Missense
SNP
0.522
NDNDND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX9-
-
-
-
3GainND
LIN9p.P233S
Missense
SNP
0.337
3GainND
LINGO4-
-
-
-
3GainND
LITAFp.R227H
Missense
SNP
0.380
2-ND
LIX1L-
-
-
-
3GainND
LMNA-
-
-
-
3GainND
LMOD1-
-
-
-
3GainND
LMX1A-
-
-
-
3GainND
LOR-
-
-
-
3GainND
LPGAT1-
-
-
-
3GainND
LPIN2p.G399V
Missense
SNP
0.456
2-ND
LRFN1p.G450R
Missense
SNP
0.494
2-ND
LRIG1p.A48T
p.A44T
Missense
Missense
SNP
SNP
0.417
0.423
2-ND
LRRC10p.V48M
Missense
SNP
0.509
2-ND
LRRC37A-
-
-
-
1LossND
LRRC37A2-
-
-
-
1LossND
LRRC38-
-
-
-
1LossND
LRRC52-
-
-
-
3GainND
LRRC71-
-
-
-
3GainND
LRRC8Cp.N407D
Missense
SNP
0.425
2-ND
LRRN2-
-
-
-
3GainND
LY9-
-
-
-
3GainND
LYPD2p.A20V
Missense
SNP
0.627
2-ND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYSMD1-
-
-
-
3GainND
LYST-
-
-
-
3GainND
LYZL1-
-
-
-
3GainND
LYZL2-
-
-
-
3GainND
LZTS1p.R368M
Missense
SNP
0.408
2-ND
MAEL-
-
-
-
3GainND
MALRD1-
-
-
-
3GainND
MAP10-
-
-
-
3GainND
MAP1Ap.A842D
Missense
SNP
0.545
2-ND
MAP1LC3C-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAP3K8-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARK1-
-
-
-
3GainND
MASTL-
-
-
-
3GainND
MCL1-
-
-
-
3GainND
MCM10-
-
-
-
3GainND
MDM4-
-
-
-
3GainND
MED12p.Q2136R
Missense
SNP
0.366
NDNDND
MEF2D-
-
-
-
3GainND
MEIG1-
-
-
-
3GainND
MESP1p.X242_splice
Splice_Site
SNP
0.525
2-ND
METAP1p.M329V
Missense
SNP
0.588
2-ND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL18-
-
-
-
3GainND
MEX3A-
-
-
-
3GainND
MFSD4A-
-
-
-
3GainND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MID1IP1p.T7I
Missense
SNP
0.513
NDNDND
MINDY1-
-
-
-
3GainND
MINDY3-
-
-
-
3GainND
MIXL1p.P163Q
Missense
SNP
0.288
3GainND
MKX-
-
-
-
3GainND
MLLT10-
-
-
-
3GainND
MLLT11-
-
-
-
3GainND
MMP15p.R127Q
Missense
SNP
0.493
2-ND
MNDA-
-
-
-
3GainND
MPC2-
-
-
-
3GainND
MPP7-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MRC1-
-
-
-
3GainND
MROH9-
-
-
-
3GainND
MRPL15p.F266L
Missense
SNP
0.547
2-ND
MRPL24-
-
-
-
3GainND
MRPL55-
-
-
-
3GainND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS21-
-
-
-
3GainND
MSRB2-
-
-
-
3GainND
MSTO1-
-
-
-
3GainND
MT1HL1-
-
-
-
3GainND
MTIF3p.R115Q
Missense
SNP
0.464
2-ND
MTMR11-
-
-
-
3GainND
MTPAP-
-
-
-
3GainND
MTR-
-
-
-
3GainND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MUC3Ap.C128W
Missense
SNP
0.179
2-ND
MYBPH-
-
-
-
3GainND
MYCNp.A418T
Missense
SNP
0.434
2-ND
MYH10p.D1462N
Missense
SNP
0.318
2-ND
MYH6p.R1361H
Missense
SNP
0.607
2-ND
MYO3A-
-
-
-
3GainND
MYOC-
-
-
-
3GainND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
NAV1p.D21G
Missense
SNP
0.375
3GainND
NAXE-
-
-
-
3GainND
NBPF10-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF12-
-
-
-
3GainND
NBPF14-
-
-
-
3GainND
NBPF15-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
3GainND
NBPF9-
-
-
-
3GainND
NCF2-
-
-
-
3GainND
NCSTNp.I263T
Missense
SNP
0.295
3GainND
NDUFAF5p.V83A
Missense
SNP
0.534
2-ND
NDUFS2-
-
-
-
3GainND
NDUFS7p.Q26*
Nonsense
SNP
0.553
2-ND
NEBL-
-
-
-
3GainND
NECTIN4-
-
-
-
3GainND
NEK2-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NENF-
-
-
-
3GainND
NES-
-
-
-
3GainND
NET1-
-
-
-
3GainND
NFASC-
-
-
-
3GainND
NFKB2p.Y807H
Missense
SNP
0.480
2-ND
NHLH1-
-
-
-
3GainND
NID1-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NLRP3-
-
-
-
3GainND
NME7-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMT2-
-
-
-
3GainND
NOS1AP-
-
-
-
3GainND
NOTCH2NLA-
-
-
-
3GainND
NPHS2-
-
-
-
3GainND
NPL-
-
-
-
3GainND
NPR1-
-
-
-
3GainND
NR1I3-
-
-
-
3GainND
NR4A3p.A163V
Missense
SNP
0.359
2-ND
NR5A2-
-
-
-
3GainND
NRP1-
-
-
-
3GainND
NSF-
-
-
-
1LossND
NSL1-
-
-
-
3GainND
NSUN6-
-
-
-
3GainND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NUAK2-
-
-
-
3GainND
NUCKS1-
-
-
-
3GainND
NUDT17-
-
-
-
3GainND
NUDT4B-
-
-
-
3GainND
NUDT5-
-
-
-
3GainND
NUF2-
-
-
-
3GainND
NUMBp.A548S
Missense
SNP
0.459
2-ND
NUP133-
-
-
-
3GainND
NUP210L-
-
-
-
3GainND
NUPR2p.E6L
Missense
TNP
0.558
2-ND
NVL-
-
-
-
3GainND
OAZ3-
-
-
-
3GainND
OBSCN-
-
-
-
3GainND
OCLM-
-
-
-
3GainND
ODR4-
-
-
-
3GainND
OLAH-
-
-
-
3GainND
OLFM4-
-
-
-
3GainND
OLFML2B-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPTC-
-
-
-
3GainND
OPTN-
-
-
-
3GainND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2-
-
-
-
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11L1-
-
-
-
3GainND
OR13G1-
-
-
-
3GainND
OR14A16-
-
-
-
3GainND
OR14A2-
-
-
-
3GainND
OR14C36-
-
-
-
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3-
-
-
-
3GainND
OR2G6-
-
-
-
3GainND
OR2L13-
-
-
-
3GainND
OR2L2-
-
-
-
3GainND
OR2L3-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2L8-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M3-
-
-
-
3GainND
OR2M4-
-
-
-
3GainND
OR2M5-
-
-
-
3GainND
OR2M7-
-
-
-
3GainND
OR2T1-
-
-
-
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T12-
-
-
-
3GainND
OR2T2-
-
-
-
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T33-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2W3-
-
-
-
3GainND
OR4Q3-
-
-
-
1LossND
OR5K1p.A242T
Missense
SNP
0.475
2-ND
OR5M1p.A188T
Missense
SNP
0.477
2-ND
OR6F1-
-
-
-
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OR9Q2p.T18A
Missense
SNP
0.614
2-ND
OTUD1-
-
-
-
3GainND
OTUD7B-
-
-
-
3GainND
PABPC4L-
-
-
-
3GainND
PAPPA2-
-
-
-
3GainND
PAQR6-
-
-
-
3GainND
PARD3-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PBX1-
-
-
-
3GainND
PBXIP1-
-
-
-
3GainND
PCDH10-
-
-
-
3GainND
PCDH15p.P1708S
Missense
SNP
0.561
2-ND
PCDH17-
-
-
-
3GainND
PCDH18-
-
-
-
3GainND
PCDH7-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PCDHA3p.R583W
Missense
SNP
0.430
2-ND
PCDHB15p.S176F
Missense
SNP
0.553
2-ND
PCDHB3p.S783T
Missense
SNP
0.507
2-ND
PCDHGA1p.V347G
Missense
SNP
0.500
2-ND
PCGF2p.I135V
Missense
SNP
0.490
2-ND
PCNX2-
-
-
-
3GainND
PCP4L1-
-
-
-
3GainND
PDC-
-
-
-
4GainND
PDE4DIP-
-
-
-
3GainND
PDSS1-
-
-
-
3GainND
PDZK1-
-
-
-
3GainND
PEA15-
-
-
-
3GainND
PEAK1p.V534A
Missense
SNP
0.454
2-ND
PEAR1-
-
-
-
3GainND
PEX11B-
-
-
-
3GainND
PEX19-
-
-
-
3GainND
PFASp.Y8D
Missense
SNP
0.577
2-ND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PFKFB3-
-
-
-
3GainND
PFKP-
-
-
-
3GainND
PGBD1p.R212M
Missense
SNP
0.514
2-ND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PHLDA3-
-
-
-
3GainND
PHYH-
-
-
-
3GainND
PI4KB-
-
-
-
3GainND
PIAS3-
-
-
-
3GainND
PIGC-
-
-
-
3GainND
PIGM-
-
-
-
3GainND
PIGR-
-
-
-
3GainND
PIK3C2B-
-
-
-
3GainND
PIP4K2A-
-
-
-
3GainND
PIP5K1A-
-
-
-
3GainND
PITRM1-
-
-
-
3GainND
PKLR-
-
-
-
3GainND
PKP1-
-
-
-
3GainND
PLA2G4A-
-
-
-
4GainND
PLD5-
-
-
-
3GainND
PLECp.M6I
Missense
SNP
0.500
2-ND
PLEKHA6-
-
-
-
3GainND
PLEKHO1-
-
-
-
3GainND
PLOD1p.R394W
Missense
SNP
0.473
2-ND
PLSCR2p.F269S
Missense
SNP
0.480
2-ND
PLXDC2-
-
-
-
3GainND
PLXNA2-
-
-
-
3GainND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
POGK-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLE2p.K191Q
Missense
SNP
0.522
2-ND
POLR3C-
-
-
-
3GainND
POLR3GL-
-
-
-
3GainND
POM121L2p.L766P
Missense
SNP
0.479
2-ND
POU2F1-
-
-
-
3GainND
PPFIA4-
-
-
-
3GainND
PPOX-
-
-
-
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R15B-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP3CAp.I64L
Missense
SNP
0.390
2-ND
PPP5Cp.K97E
Missense
SNP
0.446
2-ND
PRAG1-
-
-
-
1LossND
PRAMEp.H464Y
Missense
SNP
0.443
2-ND
PRAMEF1-
-
-
-
1LossND
PRAMEF18-
-
-
-
1LossND
PRAMEF19-
-
-
-
1LossND
PRAMEF2-
-
-
-
1LossND
PRAMEF20-
-
-
-
1LossND
PRB2p.P247Q
Missense
SNP
0.469
2-ND
PRCC-
-
-
-
3GainND
PRDM9-
-
-
-
3GainND
PRDX6-
-
-
-
3GainND
PRELP-
-
-
-
3GainND
PRG4-
-
-
-
3GainND
PRKAB2-
-
-
-
3GainND
PRKCQ-
-
-
-
3GainND
PROSER2-
-
-
-
3GainND
PROX1-
-
-
-
3GainND
PRPF18-
-
-
-
3GainND
PRPF3-
-
-
-
3GainND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRR26-
-
-
-
3GainND
PRR36p.R1263G
Missense
SNP
0.615
2-ND
PRR9-
-
-
-
3GainND
PRRC2C-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS38-
-
-
-
3GainND
PRTFDC1-
-
-
-
3GainND
PRUNE1-
-
-
-
3GainND
PSEN2-
-
-
-
3GainND
PSMB4-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PTCHD3-
-
-
-
3GainND
PTENp.D92Y
Missense
SNP
1.000
2-ND
PTER-
-
-
-
3GainND
PTF1A-
-
-
-
3GainND
PTGS2-
-
-
-
4GainND
PTPN14-
-
-
-
3GainND
PTPN7-
-
-
-
3GainND
PTPRC-
-
-
-
3GainND
PTPRS-
-
-
-
1LossND
PYCR2-
-
-
-
3GainND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
QSOX1-
-
-
-
3GainND
RAB13-
-
-
-
3GainND
RAB18-
-
-
-
3GainND
RAB25-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB3GAP2-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RABGAP1L-
-
-
-
3GainND
RABIF-
-
-
-
3GainND
RACK1p.A238T
Missense
SNP
0.522
2-ND
RALGPS2p.T482I
Missense
SNP
0.287
3GainND
RASA2p.R310*
Nonsense
SNP
0.474
2-ND
RASAL2-
-
-
-
3GainND
RASSF5-
-
-
-
3GainND
RBBP5-
-
-
-
3GainND
RBM17p.A222T
Missense
SNP
0.390
3GainND
RBM34-
-
-
-
3GainND
RBM8A-
-
-
-
3GainND
RC3H1-
-
-
-
3GainND
RCN1p.D277E
Missense
SNP
0.454
2-ND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDM1p.T97I
Missense
SNP
0.391
2-ND
REN-
-
-
-
3GainND
RENBPp.R103W
Missense
SNP
0.500
NDNDND
RETp.E512G
Missense
SNP
0.571
2-ND
RFX5-
-
-
-
3GainND
RGL1-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
4GainND
RGS13-
-
-
-
4GainND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
4GainND
RGS2-
-
-
-
4GainND
RGS21-
-
-
-
4GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHOU-
-
-
-
3GainND
RIF1p.R2222W
Missense
SNP
0.396
2-ND
RIIAD1-
-
-
-
3GainND
RIT1-
-
-
-
3GainND
RNASEL-
-
-
-
3GainND
RNASET2p.P220R
Missense
SNP
0.545
2-ND
RNF115-
-
-
-
3GainND
RNF187-
-
-
-
3GainND
RNF2-
-
-
-
3GainND
RNPEP-
-
-
-
3GainND
ROBO1p.I648T
Missense
SNP
0.500
2-ND
ROBO3p.P1163H
Missense
SNP
0.500
2-ND
RORC-
-
-
-
3GainND
RP11-240B13.2p.A196V
Missense
SNP
0.467
NDNDND
RP11-286H14.4p.L238F
Missense
SNP
0.410
NDNDND
RPL10Lp.P16S
Missense
SNP
0.461
2-ND
RPP38-
-
-
-
3GainND
RPRD2-
-
-
-
3GainND
RPS27-
-
-
-
3GainND
RPS6KC1-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RRNAD1-
-
-
-
3GainND
RRP12p.L264F
Missense
SNP
1.000
2-ND
RRP15-
-
-
-
3GainND
RSU1-
-
-
-
3GainND
RTF1p.R74Q
Missense
SNP
0.462
2-ND
RUSC1-
-
-
-
3GainND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
RYR2p.V3945A
Missense
SNP
0.321
3GainND
RYR3p.A1825T
Missense
SNP
0.576
2-ND
S100A1-
-
-
-
3GainND
S100A10-
-
-
-
3GainND
S100A11-
-
-
-
3GainND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A16-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
SACSp.R3170*
Nonsense
SNP
0.431
2-ND
SCAF1p.I701V
Missense
SNP
0.476
2-ND
SCAMP3-
-
-
-
3GainND
SCCPDH-
-
-
-
3GainND
SCN3Ap.M1496I
Missense
SNP
0.457
2-ND
SCNM1-
-
-
-
3GainND
SCYL3-
-
-
-
3GainND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SEC16B-
-
-
-
3GainND
SEC61A2-
-
-
-
3GainND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELP-
-
-
-
3GainND
SEMA3Ep.R162I
Missense
SNP
0.444
2-ND
SEMA4A-
-
-
-
3GainND
SEMA6C-
-
-
-
3GainND
SEPHS1-
-
-
-
3GainND
SERPINC1-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SETD1Ap.P265S
Missense
SNP
0.439
2-ND
SETDB1-
-
-
-
3GainND
SF3B3p.M583I
p.S719A
Missense
Missense
SNP
SNP
0.483
0.554
2-ND
SF3B4-
-
-
-
3GainND
SFMBT2-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SGK223p.R1211L
Missense
SNP
0.404
NDNDND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH3BP5L-
-
-
-
3GainND
SHC1-
-
-
-
3GainND
SHCBP1L-
-
-
-
3GainND
SHE-
-
-
-
3GainND
SHISA4-
-
-
-
3GainND
SIPA1L2-
-
-
-
3GainND
SIX3p.G47S
Missense
SNP
0.432
2-ND
SKIDA1-
-
-
-
3GainND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC19A2-
-
-
-
3GainND
SLC22A13p.X213_splice
Splice_Site
SNP
0.547
2-ND
SLC25A44-
-
-
-
3GainND
SLC26A9-
-
-
-
3GainND
SLC27A3-
-
-
-
3GainND
SLC2A11p.A157T
Missense
SNP
0.201
2-ND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC30A9p.M50I
Missense
SNP
0.550
2-ND
SLC32A1p.T434M
Missense
SNP
0.477
2-ND
SLC35F3-
-
-
-
3GainND
SLC39A1-
-
-
-
3GainND
SLC39A12-
-
-
-
3GainND
SLC39A7p.L24M
Missense
SNP
0.483
2-ND
SLC41A1-
-
-
-
3GainND
SLC45A3-
-
-
-
3GainND
SLC47A1p.V471E
Missense
SNP
0.361
2-ND
SLC50A1-
-
-
-
3GainND
SLC9C2-
-
-
-
3GainND
SLCO5A1p.R694Q
Missense
SNP
0.182
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SLKp.A346T
Missense
SNP
0.488
2-ND
SLX4p.R1103H
p.L472S
Missense
Missense
SNP
SNP
0.498
0.465
2-ND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMG8p.A510V
Missense
SNP
0.535
2-ND
SMTNp.R727H
Missense
SNP
0.496
2-ND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAP47-
-
-
-
3GainND
SNAPC3p.C383Y
Missense
SNP
0.472
2-ND
SNAPIN-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNRPE-
-
-
-
3GainND
SNX27-
-
-
-
3GainND
SNX33p.R191H
p.R569H
Missense
Missense
SNP
SNP
0.494
0.493
2-ND
SOAT1-
-
-
-
3GainND
SORCS1p.Y623C
Missense
SNP
0.554
2-ND
SOX13-
-
-
-
3GainND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPAG6-
-
-
-
3GainND
SPATA17-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPHAR-
-
-
-
3GainND
SPHKAPp.D1127N
Missense
SNP
0.529
2-ND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPTA1-
-
-
-
3GainND
SRGAP2-
-
-
-
3GainND
SRGAP2B-
-
-
-
3GainND
SRP9-
-
-
-
3GainND
SSR2-
-
-
-
3GainND
ST3GAL1p.D164G
Missense
SNP
0.469
2-ND
ST8SIA6-
-
-
-
3GainND
STAM-
-
-
-
3GainND
STUM-
-
-
-
3GainND
STX6-
-
-
-
3GainND
SUCO-
-
-
-
3GainND
SUSD4p.A58T
Missense
SNP
0.264
3GainND
SUV39H2-
-
-
-
3GainND
SV2A-
-
-
-
3GainND
SVIL-
-
-
-
3GainND
SWT1-
-
-
-
3GainND
SYT11-
-
-
-
3GainND
SYT14-
-
-
-
3GainND
SYT2-
-
-
-
3GainND
TADA1-
-
-
-
3GainND
TAF1A-
-
-
-
3GainND
TAF3-
-
-
-
3GainND
TAF5L-
-
-
-
3GainND
TAGLN2-
-
-
-
3GainND
TARBP1-
-
-
-
3GainND
TARS2-
-
-
-
3GainND
TATDN3-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBX19-
-
-
-
3GainND
TBX3p.P48L
Missense
SNP
0.426
2-ND
TBX6p.E40K
Missense
SNP
0.374
2-ND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TDRD10-
-
-
-
3GainND
TDRD5-
-
-
-
3GainND
TDRKH-
-
-
-
3GainND
TECPR1p.W77L
Missense
SNP
0.455
2-ND
TECTAp.P973S
Missense
SNP
0.500
2-ND
TEDDM1-
-
-
-
3GainND
TEX35-
-
-
-
3GainND
TEX50-
-
-
-
3GainND
TFB2M-
-
-
-
3GainND
TGFB2-
-
-
-
3GainND
TGM4p.T82M
Missense
SNP
0.531
2-ND
THBS3-
-
-
-
3GainND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
THNSL1-
-
-
-
3GainND
TIAL1p.R186*
Nonsense
SNP
0.493
2-ND
TIMM17A-
-
-
-
3GainND
TIMM44p.A72V
Missense
SNP
0.405
2-ND
TIPRL-
-
-
-
3GainND
TLK2p.N329K
Missense
SNP
0.412
2-ND
TLN1p.E2156A
Missense
SNP
0.530
2-ND
TLR5-
-
-
-
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMEM181p.L520I
Missense
SNP
0.545
2-ND
TMEM183A-
-
-
-
3GainND
TMEM206-
-
-
-
3GainND
TMEM236-
-
-
-
3GainND
TMEM63A-
-
-
-
3GainND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM9-
-
-
-
3GainND
TMOD4-
-
-
-
3GainND
TMX3p.X34_splice
Splice_Site
SNP
0.446
2-ND
TNFAIP8L2-
-
-
-
3GainND
TNFSF18p.C61Y
Missense
SNP
0.298
3GainND
TNFSF4-
-
-
-
3GainND
TNIP2p.C408*
Nonsense
SNP
0.500
2-ND
TNN-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNR-
-
-
-
3GainND
TOMM20-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TP53BP2-
-
-
-
3GainND
TP73p.D228G
Missense
SNP
0.470
2-ND
TPM3-
-
-
-
3GainND
TPM4p.A239V
Missense
SNP
0.623
2-ND
TPR-
-
-
-
3GainND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRDMT1-
-
-
-
3GainND
TRIM11-
-
-
-
3GainND
TRIM15p.A189V
Missense
SNP
0.485
2-ND
TRIM17-
-
-
-
3GainND
TRIM46-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM67-
-
-
-
3GainND
TRIM77p.H386Q
Missense
SNP
0.556
2-ND
TRMT10Cp.N31S
Missense
SNP
0.448
2-ND
TRMT1L-
-
-
-
3GainND
TROVE2-
-
-
-
3GainND
TSACC-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSPAN19p.A206T
Missense
SNP
0.474
2-ND
TSSC1p.I223T
Missense
SNP
0.458
NDNDND
TSTD1-
-
-
-
3GainND
TTC13-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TUBAL3-
-
-
-
3GainND
TUBB4Bp.Y200*
Nonsense
SNP
0.452
2-ND
TUBB8-
-
-
-
3GainND
TUFT1-
-
-
-
3GainND
TVP23Ap.M173K
Missense
SNP
0.471
2-ND
TXNIP-
-
-
-
3GainND
U2SURPp.Q869*
Nonsense
SNP
0.333
2-ND
UAP1-
-
-
-
3GainND
UBAP2L-
-
-
-
3GainND
UBE2Q1-
-
-
-
3GainND
UBE2T-
-
-
-
3GainND
UBQLN4-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UCMA-
-
-
-
3GainND
UCN3-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UHMK1-
-
-
-
3GainND
UNC80p.E410G
Missense
SNP
0.474
2-ND
UPF2-
-
-
-
3GainND
URB2-
-
-
-
3GainND
USF1-
-
-
-
3GainND
USF3p.Q1561*
Nonsense
SNP
0.533
2-ND
USH2A-
-
-
-
3GainND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
USP20p.L257P
Missense
SNP
0.511
2-ND
USP21-
-
-
-
3GainND
USP42p.E841D
Missense
SNP
0.491
2-ND
USP54p.M865T
Missense
SNP
0.495
2-ND
USP6NL-
-
-
-
3GainND
UTP25-
-
-
-
3GainND
VAMP4-
-
-
-
3GainND
VANGL2p.V271M
Missense
SNP
0.320
3GainND
VASH2-
-
-
-
3GainND
VHLL-
-
-
-
3GainND
VIM-
-
-
-
3GainND
VPS45-
-
-
-
3GainND
VPS72-
-
-
-
3GainND
VSIG8-
-
-
-
3GainND
WAC-
-
-
-
3GainND
WDR26-
-
-
-
3GainND
WDR37-
-
-
-
3GainND
WDR64-
-
-
-
3GainND
WDR81p.S1759N
Missense
SNP
0.484
2-ND
WLSp.I340V
Missense
SNP
0.457
2-ND
WNT3A-
-
-
-
3GainND
WNT9A-
-
-
-
3GainND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XPO4p.H514Q
Missense
SNP
0.497
2-ND
XPR1-
-
-
-
3GainND
YAP1p.P129T
Missense
SNP
0.559
2-ND
YME1L1-
-
-
-
3GainND
YOD1-
-
-
-
3GainND
YY1AP1-
-
-
-
3GainND
ZBED6-
-
-
-
3GainND
ZBTB18-
-
-
-
3GainND
ZBTB37-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB7Ap.T403N
Missense
SNP
0.468
2-ND
ZBTB7B-
-
-
-
3GainND
ZC3H11A-
-
-
-
3GainND
ZC3H7Bp.E380*
Nonsense
SNP
0.479
2-ND
ZDHHC8p.R113C
Missense
SNP
0.468
2-ND
ZEB1-
-
-
-
3GainND
ZFP92p.R339W
Missense
SNP
0.455
NDNDND
ZKSCAN7-
-
-
-
1LossND
ZMYND11-
-
-
-
3GainND
ZNF124-
-
-
-
3GainND
ZNF197-
-
-
-
1LossND
ZNF248-
-
-
-
3GainND
ZNF25-
-
-
-
3GainND
ZNF281-
-
-
-
3GainND
ZNF33A-
-
-
-
3GainND
ZNF35-
-
-
-
1LossND
ZNF37A-
-
-
-
3GainND
ZNF438-
-
-
-
3GainND
ZNF468p.R256Q
Missense
SNP
0.492
2-ND
ZNF496-
-
-
-
3GainND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF648-
-
-
-
3GainND
ZNF660-
-
-
-
1LossND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672p.G175S
Missense
SNP
0.312
3GainND
ZNF678-
-
-
-
3GainND
ZNF687-
-
-
-
3GainND
ZNF688p.R190H
Missense
SNP
0.544
2-ND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF852-
-
-
-
1LossND
ZP4-
-
-
-
3GainND
ZSCAN18p.G548S
Missense
SNP
0.461
2-ND