PDMR-922882~316-R~FN9PW9KW4-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCB10-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACOX1p.P168H
Missense
SNP
0.452
2--
ACP6-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAMTS15p.V505A
Missense
SNP
0.598
2--
ADAMTS4-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB1p.R675H
Missense
SNP
0.519
2--
ADARB2-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADGRB2-
-
-
-
1Loss-
ADGRB3p.R982C
Missense
SNP
0.504
2--
ADIPOQp.D229G
Missense
SNP
0.543
2--
ADIPOR1-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AGO2p.T526M
Missense
SNP
0.390
2--
AGT-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AL117339.5-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALAS2p.R517C
Missense
SNP
0.467
NDND-
ALDH9A1-
-
-
-
3Gain-
ALPIp.N184T
Missense
SNP
0.495
2--
ALPK3p.S401I
Missense
SNP
0.497
2--
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL2p.Q51R
Missense
SNP
0.435
2--
ANKRD16-
-
-
-
3Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD30A-
-
-
-
3Gain-
ANKRD30Bp.Y1319*
Nonsense
SNP
0.562
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANO8p.E588D
Missense
SNP
0.514
2--
ANP32E-
-
-
-
3Gain-
ANXA6p.A104V
Missense
SNP
0.521
2--
ANXA9-
-
-
-
3Gain-
AOX1p.N1069S
Missense
SNP
0.429
2--
APBB1IP-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
ARAP3p.X365_splice
Splice_Site
SNP
0.471
2--
ARF1-
-
-
-
3Gain-
ARHGAP12-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP30-
-
-
-
3Gain-
ARHGEF11-
-
-
-
3Gain-
ARHGEF18p.Q779*
Nonsense
SNP
0.474
2--
ARHGEF2-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARL17A-
-
-
-
2-ARL17A--KANSL1
ARL5B-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASH1L-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ATAD2p.A843T
Missense
SNP
0.415
2--
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATMp.R250*
Nonsense
SNP
0.502
2--
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT7p.R104C
Missense
SNP
0.138
2--
BAMBI-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAZ2Bp.R1938*
Nonsense
SNP
0.435
2--
BCANp.R63W
Missense
SNP
0.288
3Gain-
BCL11Bp.G680R
Missense
SNP
0.462
2--
BCL9-
-
-
-
3Gain-
BCL9Lp.A734V
Missense
SNP
0.495
2--
BEND7-
-
-
-
3Gain-
BGLAP-
-
-
-
3Gain-
BICD2p.R450H
Missense
SNP
0.454
2--
BICDL1p.S36R
Missense
SNP
0.516
2--
BLZF1-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRF2p.R304S
Missense
SNP
0.496
2--
BRINP2-
-
-
-
3Gain-
BRINP3p.R109H
Missense
SNP
0.316
3Gain-
BROX-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf67-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf167p.G1387C
Missense
SNP
0.457
2--
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QTNF4p.R266H
Missense
SNP
0.472
2--
C2CD4D-
-
-
-
3Gain-
C2orf74p.T70A
Missense
SNP
0.455
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNG2p.T272M
Missense
SNP
0.378
2--
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CARS2p.R341W
Missense
SNP
0.531
2--
CASC10-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CATSPERE-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC191p.R206C
Missense
SNP
0.422
2--
CCDC3-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCNY-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14Ap.C64Y
Missense
SNP
0.458
2--
CDC42BPA-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH23p.H1158Y
Missense
SNP
0.483
2--
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDK18-
-
-
-
3Gain-
CDK9p.G50S
Missense
SNP
0.500
2--
CDNF-
-
-
-
3Gain-
CDR1p.D68N
Missense
SNP
0.463
NDND-
CDS2p.G359R
Missense
SNP
0.491
2--
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CEP170-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP206p.D560N
Missense
SNP
0.475
2--
CFAP45-
-
-
-
3Gain-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CHADLp.V85M
Missense
SNP
0.448
2--
CHD1-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNB2-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CKS1B-
-
-
-
3Gain-
CLASP1p.Q880H
Missense
SNP
0.409
2--
CLEC16Ap.X70_splice
Splice_Site
SNP
0.489
2--
CLK2-
-
-
-
3Gain-
CLUp.E16*
Nonsense
SNP
0.503
2--
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNOT6p.R87C
Missense
SNP
0.456
2--
CNST-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN4p.K937N
Missense
SNP
0.496
2--
CNTNAP2-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COL11A1-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRYBA4p.Y74*
Nonsense
SNP
0.436
2--
CSMD2p.C3275R
Missense
SNP
0.492
2--
CSRP1-
-
-
-
3Gain-
CST3p.A129V
Missense
SNP
0.402
2--
CTCFp.Q486*
Nonsense
SNP
0.469
2--
CTNNB1p.S37F
Missense
SNP
0.469
2--
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CUBN-
-
-
-
3Gain-
CUL2-
-
-
-
3Gain-
CYB5R1-
-
-
-
3Gain-
DACH1-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCLRE1C-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DDR2-
-
-
-
3Gain-
DDX53p.A11V
Missense
SNP
0.455
NDND-
DDX59-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
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-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DGKQp.A222V
Missense
SNP
0.672
2--
DHTKD1-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DNAH1p.R2474C
p.G3706V
Missense
Missense
SNP
SNP
0.450
0.526
2--
DNAH14-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP6p.G37S
Missense
SNP
0.173
2--
DPT-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DSTp.A3652T
p.A1687D
p.V674G
Missense
Missense
Missense
SNP
SNP
SNP
0.481
0.480
0.333
2--
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DYRK1Ap.E216*
Nonsense
SNP
0.569
2--
DYRK3-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
EDARADD-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4p.G127V
Missense
SNP
0.345
3Gain-
EGLN1-
-
-
-
3Gain-
EHMT2p.A832T
Missense
SNP
0.504
2--
EIF2D-
-
-
-
3Gain-
EIF3Dp.R165H
Missense
SNP
0.457
2--
ELF3-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVC2p.V693I
Missense
SNP
0.504
2--
EXO1-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
FAM107B-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM155Bp.A15T
Missense
SNP
0.557
NDND-
FAM163A-
-
-
-
3Gain-
FAM171A1-
-
-
-
3Gain-
FAM171A2p.R58W
Missense
SNP
0.475
2--
FAM174A-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM186Bp.W480R
Missense
SNP
0.479
2--
FAM189B-
-
-
-
3Gain-
FAM208B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM3Dp.T18M
Missense
SNP
0.494
2--
FAM71A-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FASLG-
-
-
-
3Gain-
FASTKD1p.R488C
Missense
SNP
0.527
2--
FBH1-
-
-
-
3Gain-
FBN2p.E1141G
Missense
SNP
0.423
2--
FBXO28-
-
-
-
3Gain-
FBXW8p.V388D
Missense
SNP
0.437
2--
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FER1L5p.R942H
Missense
SNP
0.497
2--
FH-
-
-
-
3Gain-
FHOD1p.R855H
Missense
SNP
0.516
2--
FIBCD1p.P302S
p.E153Q
Missense
Missense
SNP
SNP
0.476
0.401
2--
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
5Amp-
FLRT2-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNDC3Bp.P72L
Missense
SNP
0.473
2--
FOXO4p.R97H
Missense
SNP
0.474
NDND-
FRMD4A-
-
-
-
3Gain-
FSD1p.H425Y
Missense
SNP
0.498
2--
FSD1Lp.R350*
Nonsense
SNP
0.459
2--
FUCA2p.N432K
Missense
SNP
0.448
2--
FZD8-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
GABBR1p.A870V
p.G110A
Missense
Missense
SNP
SNP
0.532
0.474
2--
GABPB2-
-
-
-
3Gain-
GABRG3p.A169V
Missense
SNP
0.476
2--
GAD2-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBGT1p.I187F
Missense
SNP
0.490
2--
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDI2-
-
-
-
3Gain-
GDPGP1p.R202H
Missense
SNP
0.520
2--
GGA3p.A674V
Missense
SNP
0.515
2--
GGPS1-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD4-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLOD4p.V158F
Missense
SNP
0.517
2--
GLRX2-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GOLGA3p.Q122R
Missense
SNP
0.472
2--
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR158-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL1p.I304S
Missense
SNP
0.516
2--
GRIN3Ap.A47T
Missense
SNP
0.418
2--
GTPBP4-
-
-
-
3Gain-
GUK1-
-
-
-
3Gain-
H3F3A-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAX1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HERC2p.A3712V
Missense
SNP
0.519
2--
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HIBADHp.G303D
Missense
SNP
0.446
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMCN1-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HNRNPUL1p.V747I
Missense
SNP
0.512
2--
HORMAD1-
-
-
-
3Gain-
HOXC13p.F174S
Missense
SNP
0.486
2--
HRNR-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPE1p.V26L
Missense
SNP
0.456
2--
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IER5-
-
-
-
3Gain-
IFI16p.F552I
Missense
SNP
0.326
3Gain-
IGFN1-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
ING2p.R81H
Missense
SNP
0.510
2--
INSRR-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IRAK1p.P109Q
Missense
SNP
0.415
NDND-
IRF2BP2-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA8-
-
-
-
3Gain-
ITGB1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITKp.Y182*
Nonsense
SNP
0.433
2--
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
JADE2p.V737A
Missense
SNP
0.438
2--
JARID2p.R329I
Missense
SNP
0.436
2--
JCAD-
-
-
-
3Gain-
JMJD4-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
KANSL1-
-
-
-
2-ARL17A--KANSL1
KBTBD11p.A319T
Missense
SNP
0.600
2--
KCNC2p.R100C
Missense
SNP
0.406
2--
KCNH1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KIAA0040-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1462p.G1031E
Missense
SNP
0.335
NDND-
KIAA1614-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF21B-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLHDC3p.A366T
Missense
SNP
0.585
2--
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL5p.Q584H
Missense
SNP
0.442
2--
KMO-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRT12p.L416V
Missense
SNP
0.493
2--
KRT2p.G525W
Missense
SNP
0.487
2--
KRT82p.A378T
Missense
SNP
0.436
2--
KRTCAP2-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMB1p.X397_splice
Splice_Site
SNP
0.448
2--
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LAX1-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3Cp.R67H
Missense
SNP
1.000
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LECT1p.M79V
Missense
SNP
0.474
NDND-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIN9p.P233S
Missense
SNP
0.305
3Gain-
LINGO4-
-
-
-
3Gain-
LITAFp.R227H
Missense
SNP
0.464
2--
LIX1L-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LOR-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN2p.G399V
Missense
SNP
0.521
2--
LRFN1p.G450R
Missense
SNP
0.509
2--
LRFN2p.T753M
Missense
SNP
0.412
2--
LRIG1p.A48T
p.A44T
Missense
Missense
SNP
SNP
0.461
0.440
2--
LRRC10p.V48M
Missense
SNP
0.560
2--
LRRC52-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC8Cp.N407D
Missense
SNP
0.491
2--
LRRN2-
-
-
-
3Gain-
LTBP3p.G152S
Missense
SNP
0.490
2--
LY9-
-
-
-
3Gain-
LYPD2p.A20V
Missense
SNP
0.425
2--
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
LZTS1p.R368M
Missense
SNP
0.453
2--
MAEL-
-
-
-
3Gain-
MAGEA1p.R291H
Missense
SNP
0.387
NDND-
MALRD1-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1Ap.A842D
Missense
SNP
0.567
2--
MAP1LC3C-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K8-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARK1-
-
-
-
3Gain-
MASTL-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MED12p.Q2136R
Missense
SNP
0.595
NDND-
MED12Lp.R1428I
Missense
SNP
0.461
2--
MED13p.P1605S
Missense
SNP
0.508
2--
MEF2D-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MESP1p.X242_splice
Splice_Site
SNP
0.466
2--
METAP1p.M329V
Missense
SNP
0.543
2--
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MID1IP1p.T7I
Missense
SNP
0.519
NDND-
MINDY1-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MIXL1p.P163Q
Missense
SNP
0.274
3Gain-
MKX-
-
-
-
3Gain-
MLLT10-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MMP15p.R127Q
Missense
SNP
0.520
2--
MNDA-
-
-
-
3Gain-
MPC2-
-
-
-
3Gain-
MPP2p.A497V
Missense
SNP
0.542
2--
MPP7-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRC1-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL15p.F266L
Missense
SNP
0.482
2--
MRPL24-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTIF3p.R115Q
Missense
SNP
0.492
2--
MTMR11-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC3Ap.C128W
Missense
SNP
0.204
2--
MYBPH-
-
-
-
3Gain-
MYCNp.A418T
Missense
SNP
0.536
2--
MYH6p.R1361H
Missense
SNP
0.482
2--
MYO3A-
-
-
-
3Gain-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
NAV1p.D21G
Missense
SNP
0.296
3Gain-
NAXE-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCSTNp.I263T
Missense
SNP
0.345
3Gain-
NDUFAF5p.V83A
Missense
SNP
0.506
2--
NDUFS2-
-
-
-
3Gain-
NDUFS7p.Q26*
Nonsense
SNP
0.217
2--
NEBL-
-
-
-
3Gain-
NECTIN4-
-
-
-
3Gain-
NEK2-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NEU2p.A236T
Missense
SNP
0.560
2--
NFASC-
-
-
-
3Gain-
NFKB2p.Y807H
Missense
SNP
0.469
2--
NHLH1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NID2p.S431L
Missense
SNP
0.455
2--
NIT1-
-
-
-
3Gain-
NLRP3-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR4A3p.A163V
Missense
SNP
0.416
2--
NR5A2-
-
-
-
3Gain-
NRP1-
-
-
-
3Gain-
NSL1-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NTNG1-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUMBp.A548S
Missense
SNP
0.371
2--
NUP133-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUPR2p.E6L
Missense
TNP
0.500
2--
NVL-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR5K1p.A242T
Missense
SNP
0.477
2--
OR5M1p.A188T
Missense
SNP
0.532
2--
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A10p.H54Q
Missense
SNP
0.463
2--
OR9Q2p.T18A
Missense
SNP
0.557
2--
OTUD1-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCDH15p.P1708S
Missense
SNP
0.473
2--
PCDH17-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA3p.R583W
Missense
SNP
0.490
2--
PCDHB3p.S783T
Missense
SNP
0.555
2--
PCDHGA1p.V347G
Missense
SNP
0.402
2--
PCDHGA5p.R65C
Missense
SNP
0.104
2--
PCDHGB2p.V492I
Missense
SNP
0.113
2--
PCGF2p.I135V
Missense
SNP
0.502
2--
PCNX2-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD7p.R183C
Missense
SNP
0.526
2--
PDE4DIP-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1p.V534A
Missense
SNP
0.493
2--
PEAR1-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PFASp.Y8D
Missense
SNP
0.524
2--
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKLp.T38M
Missense
SNP
0.523
2--
PFKP-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITRM1-
-
-
-
3Gain-
PITX2p.A34T
Missense
SNP
0.556
2--
PKLR-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLECp.M6I
Missense
SNP
0.500
2--
PLEKHA6-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLRG1p.A377D
Missense
SNP
0.430
2--
PLSCR2p.F269S
Missense
SNP
0.429
2--
PLXDC2-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLE2p.K191Q
Missense
SNP
0.496
2--
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POM121L2p.L766P
Missense
SNP
0.476
2--
PORCNp.R143W
Missense
SNP
0.465
NDND-
POU2F1-
-
-
-
3Gain-
PPFIA4-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP3CAp.I64L
Missense
SNP
0.500
2--
PPP5Cp.K97E
Missense
SNP
0.497
2--
PRAG1-
-
-
-
1Loss-
PRB2p.P247Q
Missense
SNP
0.385
2--
PRCC-
-
-
-
3Gain-
PRDM9-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKCQ-
-
-
-
3Gain-
PRMT6-
-
-
-
3Gain-
PROKR1p.T188M
Missense
SNP
0.481
2--
PROSER2-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
3Gain-
PRR36p.R1263G
Missense
SNP
0.517
2--
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSMB4-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTENp.D92Y
Missense
SNP
1.000
2--
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRS-
-
-
-
1Loss-
PYCR2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QSOX1-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB18-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RACK1p.A238T
Missense
SNP
0.492
2--
RALGPS2p.T482I
Missense
SNP
0.264
3Gain-
RASA2p.R310*
Nonsense
SNP
0.468
2--
RASAL2-
-
-
-
3Gain-
RASSF5-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBM17p.A222T
Missense
SNP
0.282
3Gain-
RBM34-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCN1p.D277E
Missense
SNP
0.542
2--
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RDM1p.T97I
Missense
SNP
0.554
2--
RELNp.R2292H
Missense
SNP
0.432
2--
REN-
-
-
-
3Gain-
RENBPp.R103W
Missense
SNP
0.358
NDND-
RETp.E512G
Missense
SNP
0.488
2--
RFX5-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGMB-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RIF1p.R2222W
Missense
SNP
0.476
2--
RIIAD1-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RNASET2p.P220R
Missense
SNP
0.534
2--
RNF115-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNPC3-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
ROBO1p.I648T
Missense
SNP
0.533
2--
ROBO3p.P1163H
Missense
SNP
0.491
2--
RORC-
-
-
-
3Gain-
RP11-240B13.2p.A196V
Missense
SNP
0.520
NDND-
RP11-286H14.4p.L238F
Missense
SNP
0.463
NDND-
RPL10Lp.P16S
Missense
SNP
0.502
2--
RPP38-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP12p.L264F
Missense
SNP
1.000
2--
RRP15-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTF1p.R74Q
Missense
SNP
0.395
2--
RUSC1-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2p.V3945A
Missense
SNP
0.299
3Gain-
RYR3p.A1825T
Missense
SNP
0.389
2--
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
SACSp.R3170*
Nonsense
SNP
0.543
2--
SAFBp.A653V
Missense
SNP
0.534
2--
SBF2p.R1049G
Missense
SNP
0.515
2--
SCAF1p.I701V
Missense
SNP
0.402
2--
SCAMP3-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCN3Ap.M1496I
Missense
SNP
0.456
2--
SCNM1-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC61A2-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3Ep.R162I
Missense
SNP
0.622
2--
SEMA4A-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEPHS1-
-
-
-
3Gain-
SERPINC1-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SETD1Ap.P265S
Missense
SNP
0.465
2--
SETDB1-
-
-
-
3Gain-
SF3B3p.M583I
p.S719A
Missense
Missense
SNP
SNP
0.508
0.531
2--
SF3B4-
-
-
-
3Gain-
SFMBT2-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SGK223p.R1211L
Missense
SNP
0.494
NDND-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BP5L-
-
-
-
3Gain-
SHC1-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SIPA1L2-
-
-
-
3Gain-
SIX3p.G47S
Missense
SNP
0.640
2--
SKIDA1-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC19A2-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC32A1p.T434M
Missense
SNP
0.511
2--
SLC35F3-
-
-
-
3Gain-
SLC35G3p.A196T
Missense
SNP
0.480
2--
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A7p.L24M
Missense
SNP
0.459
2--
SLC41A1-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC47A1p.V471E
Missense
SNP
0.624
2--
SLC50A1-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLX4p.R1103H
p.L472S
Missense
Missense
SNP
SNP
0.492
0.517
2--
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMG8p.A510V
Missense
SNP
0.549
2--
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC3p.C383Y
Missense
SNP
0.543
2--
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX33p.R191H
p.R569H
Missense
Missense
SNP
SNP
0.514
0.464
2--
SOAT1-
-
-
-
3Gain-
SORCS1p.Y623C
Missense
SNP
0.564
2--
SOX13-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG6-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPOCD1-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSR4p.A9T
Missense
SNP
0.468
NDND-
ST3GAL1p.D164G
Missense
SNP
0.443
2--
ST8SIA4-
-
-
-
3Gain-
ST8SIA6-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUSD4p.A58T
Missense
SNP
0.377
3Gain-
SUV39H2-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SVIL-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF3-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TBX3p.P48L
Missense
SNP
0.583
2--
TBX6p.E40K
Missense
SNP
0.452
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TECPR1p.W77L
Missense
SNP
0.545
2--
TECTAp.P973S
Missense
SNP
0.503
2--
TEDDM1-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGM4p.T82M
Missense
SNP
0.511
2--
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THNSL1-
-
-
-
3Gain-
TIAL1p.R186*
Nonsense
SNP
0.474
2--
TIE1p.R112L
Missense
SNP
0.440
2--
TIMM17A-
-
-
-
3Gain-
TIMM44p.A72V
Missense
SNP
0.519
2--
TIPRL-
-
-
-
3Gain-
TLK2p.N329K
Missense
SNP
0.518
2--
TLN1p.E2156A
Missense
SNP
0.510
2--
TLR5-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMEM181p.L520I
Missense
SNP
0.482
2--
TMEM183A-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM236-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMX3p.X34_splice
Splice_Site
SNP
0.381
2--
TNFAIP8L2-
-
-
-
3Gain-
TNFSF18p.C61Y
Missense
SNP
0.300
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP2p.C408*
Nonsense
SNP
0.429
2--
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP73p.D228G
Missense
SNP
0.573
2--
TPM3-
-
-
-
3Gain-
TPM4p.A239V
Missense
SNP
0.477
2--
TPR-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRDMT1-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM15p.A189V
Missense
SNP
0.455
2--
TRIM17-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM67-
-
-
-
3Gain-
TRIM77p.H386Q
Missense
SNP
0.494
2--
TRMT10Cp.N31S
Missense
SNP
0.454
2--
TRMT1L-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPM8p.R829*
Nonsense
SNP
0.458
2--
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN19p.A206T
Missense
SNP
0.287
2--
TSSC1p.I223T
Missense
SNP
0.579
NDND-
TSTD1-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TUBAL3-
-
-
-
3Gain-
TUBB4Bp.Y200*
Nonsense
SNP
0.477
2--
TUBB8-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TVP23Ap.M173K
Missense
SNP
0.503
2--
TXNIP-
-
-
-
3Gain-
U2SURPp.Q869*
Nonsense
SNP
0.411
2--
UAP1-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR4-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UNC80p.E410G
Missense
SNP
0.510
2--
UPF2-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USF3p.Q1561*
Nonsense
SNP
0.512
2--
USH2A-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP20p.L257P
Missense
SNP
0.461
2--
USP21-
-
-
-
3Gain-
USP42p.E841D
Missense
SNP
0.476
2--
USP54p.M865T
Missense
SNP
0.456
2--
USP6NL-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAV3-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
WAC-
-
-
-
3Gain-
WDR26-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR81p.S1759N
Missense
SNP
0.517
2--
WLSp.I340V
Missense
SNP
0.587
2--
WNT3A-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XPO4p.H514Q
Missense
SNP
0.500
2--
XPR1-
-
-
-
3Gain-
YAP1p.P129T
Missense
SNP
0.502
2--
YME1L1-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
ZBED4p.R935H
Missense
SNP
0.530
2--
ZBED6-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB48p.R485H
Missense
SNP
0.498
2--
ZBTB7Ap.T403N
Missense
SNP
0.492
2--
ZBTB7B-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZDHHC8p.R113C
Missense
SNP
0.567
2--
ZEB1-
-
-
-
3Gain-
ZFP92p.R339W
Missense
SNP
0.405
NDND-
ZMYND11-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF135p.R538*
Nonsense
SNP
0.522
2--
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF438-
-
-
-
3Gain-
ZNF468p.R256Q
Missense
SNP
0.456
2--
ZNF496-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672p.G175S
Missense
SNP
0.342
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF688p.R190H
Missense
SNP
0.481
2--
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZSCAN18p.G548S
Missense
SNP
0.465
2--