PDMR-327498~153-R~HPX-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AATKp.L475P
Missense
SNP
0.475
2--
ABCB10-
-
-
-
3Gain-
ABCC10p.P1257S
Missense
SNP
0.506
2--
ABCC9-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC114783.1p.Q188R
Missense
SNP
0.447
NDND-
AC118470.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACSM4-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAMTS4-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADGRL1p.D915N
Missense
SNP
0.168
2--
ADIPOR1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AEBP1p.R268L
Missense
SNP
0.460
2--
AEBP2-
-
-
-
3Gain-
AFF1p.P287S
Missense
SNP
0.218
2--
AGRNp.A1325T
Missense
SNP
0.457
2--
AGT-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
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-
ALDH9A1-
-
-
-
3Gain-
ALG10-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANK2p.E169D
Missense
SNP
0.519
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD6p.R183C
Missense
SNP
0.330
2--
ANO2-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC1-
-
-
-
3Gain-
APOBEC3Gp.S290R
Missense
SNP
0.288
2--
APOBEC4-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
ARF1-
-
-
-
3Gain-
ARHGAP30-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF1p.S801R
Missense
SNP
0.470
2--
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARID1Bp.T1533I
Missense
SNP
0.484
2--
ARID4B-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC2p.A512T
Missense
SNP
0.556
2--
ARNT-
-
-
-
3Gain-
ARNTL2-
-
-
-
3Gain-
ARPC4p.V31M
Missense
SNP
0.520
2--
ARPC5-
-
-
-
3Gain-
ARSDp.H367Y
Missense
SNP
0.442
NDND-
ARSKp.G496*
Nonsense
SNP
0.487
2--
ART4-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ASH1L-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATN1-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATXN7L2p.X234_splice
Splice_Site
SNP
0.545
2--
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
4Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCORp.N1459S
Missense
SNP
0.410
NDND-
BGLAP-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMP10p.T53A
Missense
SNP
0.523
2--
BNIPL-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BOLA2B-
-
-
-
2-BOLA2B--SMG1P1
BORCS5-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRCA2p.S278N
Missense
SNP
0.412
2--
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
4Gain-
BROX-
-
-
-
3Gain-
BRSK2p.C70*
Nonsense
SNP
0.516
2--
BTG2-
-
-
-
3Gain-
BTNL3p.P299L
Missense
SNP
0.486
2--
C10orf76p.Y643C
Missense
SNP
0.463
NDND-
C12orf4-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA3p.A162V
Missense
SNP
0.556
2--
CAB39p.I101T
Missense
SNP
0.428
2--
CACNA1C-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CALHM3p.T304M
Missense
SNP
0.551
2--
CAMK1G-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAND2p.R431H
Missense
SNP
0.295
2--
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CASRp.A86V
Missense
SNP
0.190
2--
CATSPERE-
-
-
-
3Gain-
CBARPp.A438T
Missense
SNP
0.182
2--
CCDC175-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCND1p.T286A
Missense
SNP
0.441
2--
CCND2-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
4Gain-
CDCA3-
-
-
-
3Gain-
CDH26p.S327L
Missense
SNP
0.259
2--
CDK18-
-
-
-
3Gain-
CDKN1B-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CEMIPp.R901Q
Missense
SNP
0.562
2--
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CEP170-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP89p.G151D
Missense
SNP
0.233
2--
CERS2-
-
-
-
3Gain-
CES1p.K385R
Missense
SNP
0.500
2--
CFAP126-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFH-
-
-
-
4Gain-
CFHR1-
-
-
-
4Gain-
CFHR2-
-
-
-
4Gain-
CFHR3-
-
-
-
4Gain-
CFHR4-
-
-
-
4Gain-
CFHR5-
-
-
-
4Gain-
CGN-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNB2-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CKMp.G149D
Missense
SNP
0.456
2--
CKS1B-
-
-
-
3Gain-
CLDND2p.F139L
Missense
SNP
0.201
NDND-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC2Lp.A75T
Missense
SNP
0.258
2--
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CNGA4p.E556D
Missense
SNP
0.418
2--
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP4p.P555S
Missense
SNP
0.221
2--
COA6-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COL11A1p.K774R
Missense
SNP
0.360
2--
COL12A1p.P1588H
Missense
SNP
0.405
2--
COL4A5p.P554L
Missense
SNP
0.377
NDND-
COLGALT2-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRMP1p.G79R
Missense
SNP
0.494
2--
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CTAGE8-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CUL4Bp.R614C
Missense
SNP
0.492
NDND-
CYB5R1-
-
-
-
3Gain-
CYP26A1p.R418Q
Missense
SNP
0.479
2--
CYP2C9p.P471Q
Missense
SNP
0.487
2--
DACH1-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCLRE1Ap.P289S
Missense
SNP
0.455
2--
DCP1B-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCUN1D5p.T236I
Missense
SNP
0.491
2--
DDR2-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX59-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DEPDC1p.A548V
Missense
SNP
0.492
2--
DERA-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DLATp.V355A
Missense
SNP
0.520
2--
DNAH14p.A3009V
Missense
SNP
0.359
3Gain-
DNAH8p.G2570D
Missense
SNP
0.486
2--
DNAH9p.A3363V
Missense
SNP
0.545
2--
DNM1L-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPPA3-
-
-
-
3Gain-
DPT-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DYRK3-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
EDARADD-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFHC1p.V273A
Missense
SNP
0.167
2--
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EIF1p.V98L
Missense
SNP
0.500
2--
EIF2AK1p.I240N
Missense
SNP
0.554
2--
EIF2D-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
ELF3-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EMP1-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENPP3p.H209Y
Missense
SNP
0.489
2--
ENSA-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPS15p.I289V
Missense
SNP
0.544
2--
EPS8-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERCC4p.A109V
Missense
SNP
0.279
2--
ERGIC2-
-
-
-
3Gain-
ERMARDp.L422R
Missense
SNP
0.497
2--
ERN1p.D421G
Missense
SNP
0.527
2--
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ESRRGp.S50N
Missense
SNP
0.365
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETV3p.R149W
Missense
SNP
0.744
3Gain-
ETV3L-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EXD1p.P450L
Missense
SNP
0.227
2--
EXO1-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
FADDp.E130K
Missense
SNP
0.468
2--
FAM129A-
-
-
-
3Gain-
FAM163A-
-
-
-
3Gain-
FAM171A1p.V769I
Missense
SNP
0.476
2--
FAM177B-
-
-
-
3Gain-
FAM181Ap.E223G
Missense
SNP
0.322
2--
FAM184Bp.L814F
Missense
SNP
0.179
2--
FAM189B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM71A-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAR2-
-
-
-
3Gain-
FASLG-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO30p.C18Y
Missense
SNP
0.470
2--
FBXO46p.C306R
Missense
SNP
0.472
2--
FCAMR-
-
-
-
3Gain-
FCAR-
-
-
-
1Loss-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
6Amp-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1p.R286H
Missense
SNP
0.153
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FGD4-
-
-
-
3Gain-
FGF20p.G18D
Missense
SNP
0.535
2--
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FGFR3p.N430S
Missense
SNP
0.172
2--
FH-
-
-
-
3Gain-
FHOD3p.R1238*
Nonsense
SNP
0.272
2--
FIS1p.K151R
Missense
SNP
0.489
2--
FKBP4-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FOXJ2-
-
-
-
3Gain-
FOXM1-
-
-
-
3Gain-
FREM2p.E1972D
Missense
SNP
0.516
2--
FSIP2p.P561H
Missense
SNP
0.469
2--
FUBP3p.D399N
Missense
SNP
0.597
2--
FZD10p.T310M
Missense
SNP
0.427
2--
G0S2-
-
-
-
3Gain-
GABARAPL1p.G92D
Missense
SNP
0.263
3Gain-
GABPB2-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSHp.L145S
Missense
SNP
0.474
2--
GDF3-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLRA4p.R106H
Missense
SNP
0.468
NDND-
GLRX2-
-
-
-
4Gain-
GLUL-
-
-
-
3Gain-
GNAO1p.R86L
Missense
SNP
0.463
2--
GNB3-
-
-
-
3Gain-
GNG11p.L4I
Missense
SNP
0.426
2--
GNG4-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPTGp.X18_splice
Splice_Site
SNP
0.494
2--
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPR135-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR31p.F235Y
Missense
SNP
0.484
2--
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRID1p.V192I
Missense
SNP
0.407
2--
GRIN2B-
-
-
-
3Gain-
GRIN3Bp.R862H
Missense
SNP
0.505
2--
GRK6p.L238M
Missense
SNP
0.427
2--
GRM1p.G539R
Missense
SNP
0.346
2--
GSDMDp.P99Q
Missense
SNP
0.248
2--
GSG1-
-
-
-
3Gain-
GSG1L2p.I292V
Missense
SNP
0.494
2--
GUCY2C-
-
-
-
3Gain-
GUK1-
-
-
-
3Gain-
GYS2p.A177V
Missense
SNP
0.393
3Gain-
H2AFJ-
-
-
-
3Gain-
H3F3A-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAX1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HEATR1p.A937V
Missense
SNP
0.281
3Gain-
HEBP1-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HIPK4p.A310T
Missense
SNP
0.516
2--
HIST1H4Gp.R4W
Missense
SNP
0.420
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-
HIST3H3p.P39L
Missense
SNP
0.273
3Gain-
HIST4H4-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HKR1p.S538P
Missense
SNP
0.499
2--
HLX-
-
-
-
3Gain-
HMCN1p.R3978Q
Missense
SNP
0.336
3Gain-
HNRNPU-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSPA5p.D231N
Missense
SNP
0.246
2--
HSPA6-
-
-
-
6Amp-
HSPB9p.S144C
Missense
SNP
0.447
2--
HTR3Cp.L318M
Missense
SNP
0.581
2--
HYAL2p.R116C
Missense
SNP
0.219
2--
IAPP-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
IER5-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IGDCC3p.A620S
Missense
SNP
0.226
2--
IGFN1-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9p.H555N
Missense
SNP
0.376
3Gain-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INPP5Ap.R343Q
Missense
SNP
0.486
2--
INSRR-
-
-
-
3Gain-
INTS10p.S2T
Missense
SNP
0.408
2--
INTS13-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS6Lp.C351R
Missense
SNP
0.450
NDND-
INTS7-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRGCp.V148I
Missense
SNP
0.264
2--
ISG20L2-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
JAKMIP3p.A164T
Missense
SNP
0.509
2--
JKAMP-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNAB2p.R162L
Missense
SNP
0.333
2--
KCND2p.I336N
Missense
SNP
0.480
2--
KCNH1-
-
-
-
3Gain-
KCNH7p.R699H
Missense
SNP
0.518
2--
KCNJ10-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNQ4p.Q580*
Nonsense
SNP
0.512
2--
KCNT2-
-
-
-
4Gain-
KCTD3-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KIAA0040-
-
-
-
3Gain-
KIAA1524p.E364G
Missense
SNP
0.382
NDND-
KIAA1551-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF21B-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIR2DL1-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL42-
-
-
-
3Gain-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRASp.G12C
Missense
SNP
0.235
3Gain-
KRTAP4-3p.R170S
Missense
SNP
0.559
2--
KRTCAP2-
-
-
-
3Gain-
KTI12p.G42S
Missense
SNP
0.486
2--
KYAT1p.A472V
Missense
SNP
0.382
2--
L3HYPDH-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LAMA3p.L2955R
Missense
SNP
0.459
2--
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
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-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCORp.E687K
Missense
SNP
0.519
2--
LDHB-
-
-
-
3Gain-
LDLRAD4p.V72A
Missense
SNP
0.449
2--
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIFRp.L400P
Missense
SNP
0.508
2--
LIN9-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LONRF3p.G196R
Missense
SNP
0.444
NDND-
LOR-
-
-
-
3Gain-
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP2p.C1404Y
Missense
SNP
0.269
2--
LRP6-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRCC1p.K755N
Missense
SNP
0.448
2--
LRRN2-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LY9-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAEL-
-
-
-
3Gain-
MAGOHB-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1Ap.P1958S
Missense
SNP
0.500
2--
MAP1LC3C-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3p.L172I
Missense
SNP
0.510
2--
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARK1-
-
-
-
3Gain-
MC5Rp.R158H
Missense
SNP
0.514
2--
MCL1-
-
-
-
3Gain-
MCMBPp.T122A
Missense
SNP
0.276
2--
MDM4-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MGME1p.N232S
Missense
SNP
0.405
2--
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIER3p.Q188*
Nonsense
SNP
0.512
2--
MINDY1-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLPHp.A582T
Missense
SNP
0.117
2--
MMEL1p.T482M
Missense
SNP
0.184
2--
MNDA-
-
-
-
3Gain-
MNTp.V566A
Missense
SNP
0.387
2--
MPC2-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRC2p.E1322K
Missense
SNP
0.484
2--
MROH9-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTERF1p.I340V
Missense
SNP
0.452
2--
MTMR11-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC22p.S1704N
Missense
SNP
0.474
2--
MUC5ACp.L54I
Missense
SNP
0.458
2--
MYBPH-
-
-
-
3Gain-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAPD2-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDRG3p.R232H
Missense
SNP
0.489
2--
NDUFA4-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NEBp.T3118I
Missense
SNP
0.481
2--
NECAP1-
-
-
-
3Gain-
NECTIN2p.A352D
Missense
SNP
0.525
2--
NECTIN4-
-
-
-
3Gain-
NEDD8p.R25*
Nonsense
SNP
0.172
2--
NEIL3p.G267V
Missense
SNP
0.519
2--
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFATC1p.G99C
Missense
SNP
0.199
2--
NFX1p.M868V
Missense
SNP
0.456
2--
NHLH1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NLRP3-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPNTp.R497G
Missense
SNP
0.455
2--
NPR1-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRDE2p.A306T
Missense
SNP
0.510
2--
NRIP2-
-
-
-
3Gain-
NRXN2p.A209V
Missense
SNP
0.523
2--
NSL1-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCNp.A140T
Missense
SNP
0.466
3Gain-
OCLM-
-
-
-
3Gain-
ODF3L1p.P201T
Missense
SNP
0.476
2--
ODR4-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2p.A42T
Missense
SNP
0.170
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR2A1-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2p.C172Y
Missense
SNP
0.397
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-
OR4C11p.I204N
Missense
SNP
0.499
2--
OR51I2p.R234C
Missense
SNP
0.538
2--
OR6B2p.H220N
Missense
SNP
0.465
2--
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OSBPp.G93D
Missense
SNP
0.504
2--
OSBPL5p.P289L
Missense
SNP
0.439
2--
OTUD7B-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
P2RX2p.Q447L
Missense
SNP
0.203
2--
P3H3-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP11-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA4p.P522L
Missense
SNP
0.521
2--
PCDHGA11p.T23M
Missense
SNP
0.502
2--
PCNTp.W2110G
Missense
SNP
0.247
2--
PCNX2-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PDC-
-
-
-
4Gain-
PDE3A-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX5-
-
-
-
3Gain-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PID1p.C108R
Missense
SNP
0.503
2--
PIEZO2p.A2S
Missense
SNP
0.525
2--
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIK3C2G-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITPNM2p.K1275T
Missense
SNP
0.537
2--
PKLR-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G4A-
-
-
-
4Gain-
PLBD1-
-
-
-
3Gain-
PLCD3p.L66P
Missense
SNP
0.436
2--
PLCZ1-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHH3p.L729F
Missense
SNP
0.502
2--
PLEKHO1-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNB2p.A1032V
Missense
SNP
0.505
2--
PM20D1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLR1Dp.C107Y
Missense
SNP
0.240
2--
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
PPFIA1p.V1048M
Missense
SNP
0.479
2--
PPFIA4-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R15Bp.K711N
Missense
SNP
0.354
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP4Cp.A223V
Missense
SNP
0.513
2--
PRAMEp.R476Q
Missense
SNP
0.183
2--
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRDM1p.L674P
Missense
SNP
0.530
2--
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKAR1Ap.R97Q
Missense
SNP
0.517
2--
PRKG1p.L22P
Missense
SNP
0.473
2--
PRMT8-
-
-
-
3Gain-
PROSCp.A227V
Missense
SNP
0.482
NDND-
PROX1-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF8p.N1069S
Missense
SNP
0.508
2--
PRR4-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSME1p.X45_splice
Splice_Site
SNP
0.217
2--
PTENp.P38T
Missense
SNP
0.394
2--
PTGS2-
-
-
-
4Gain-
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PXDNp.E965K
Missense
SNP
0.218
2--
PYCR2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QSOX1-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB3GAP1p.E263*
Nonsense
SNP
0.520
2--
RAB3GAP2-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RAP2Cp.G131D
Missense
SNP
0.502
NDND-
RASAL2-
-
-
-
3Gain-
RASL10Ap.T86M
Missense
SNP
0.412
2--
RASSF5-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBCK1p.R145Q
Missense
SNP
0.559
2--
RBM34-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RFX5p.C205*
Nonsense
SNP
0.396
3Gain-
RGAG1p.M79T
Missense
SNP
0.452
NDND-
RGL1-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
4Gain-
RGS13-
-
-
-
4Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
4Gain-
RGS2-
-
-
-
4Gain-
RGS21-
-
-
-
4Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIMS1p.R1266L
Missense
SNP
0.481
2--
RIT1-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RNF111p.P538H
Missense
SNP
0.494
2--
RNF115-
-
-
-
3Gain-
RNF145p.V314I
Missense
SNP
0.523
2--
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP11-849H4.2p.P4H
Missense
SNP
0.497
NDND-
RPRD2-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RRBP1p.X386_splice
Splice_Site
SNP
0.543
2--
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
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.R3970K
Missense
SNP
0.521
2--
SCAMP3-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCLT1p.H162Y
Missense
SNP
0.488
2--
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCRIBp.P1251H
Missense
SNP
0.543
2--
SCYL3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDR39U1p.R255Q
Missense
SNP
0.202
2--
SEC16B-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3Ep.T46I
Missense
SNP
0.566
2--
SEMA4A-
-
-
-
3Gain-
SEMA4Cp.R43W
Missense
SNP
0.438
2--
SEMA6C-
-
-
-
3Gain-
SENP6p.A3V
Missense
SNP
0.609
2--
SERPINC1-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BP5L-
-
-
-
3Gain-
SHC1-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3p.Q505*
Nonsense
SNP
0.101
2--
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A5p.K392N
Missense
SNP
0.495
2--
SLC12A1p.M732V
Missense
SNP
0.429
2--
SLC15A5-
-
-
-
3Gain-
SLC16A5p.A299T
Missense
SNP
0.547
2--
SLC17A6p.Y177H
Missense
SNP
0.449
2--
SLC19A2p.F409L
Missense
SNP
0.389
3Gain-
SLC25A22p.K286N
Missense
SNP
0.528
2--
SLC25A44-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A1p.L585M
Missense
SNP
0.471
2--
SLC27A3-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A6p.S233R
Missense
SNP
0.478
2--
SLC41A1-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC45A4p.P5L
Missense
SNP
0.461
2--
SLC4A9p.L124V
p.P585S
Missense
Missense
SNP
SNP
0.464
0.398
2--
SLC50A1-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A17p.C329G
Missense
SNP
0.462
2--
SLC9C2-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG1P1-
-
-
-
NDNDBOLA2B--SMG1P1
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTBp.E791K
Missense
SNP
0.487
2--
SPTBN5p.Q2049K
Missense
SNP
0.509
2--
SPX-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SRSF12p.A67V
Missense
SNP
0.488
2--
SRSF6p.R215T
Missense
SNP
0.379
2--
SRSF9p.R163C
Missense
SNP
0.448
2--
SSC5Dp.G794E
Missense
SNP
0.537
2--
SSH2p.C556W
Missense
SNP
0.428
2--
SSPN-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
STAC2p.P305S
Missense
SNP
0.510
2--
STK32Cp.S411N
Missense
SNP
0.463
2--
STK38L-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SULT2A1p.E185D
Missense
SNP
0.405
2--
SUPT5Hp.R310H
Missense
SNP
0.459
2--
SUSD4-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYNJ2p.S676N
Missense
SNP
0.450
2--
SYT10-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT16p.Q218*
Nonsense
SNP
0.295
2--
SYT2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TAP1p.V385M
Missense
SNP
0.507
2--
TAPBPL-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TCERG1Lp.P24H
Missense
SNP
0.339
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TDP2p.G4W
Missense
SNP
0.524
2--
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TET3p.S1253T
Missense
SNP
0.451
2--
TEX35-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBR3Lp.C176Y
Missense
SNP
0.443
2--
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
TIFABp.R28W
Missense
SNP
0.254
2--
TIGAR-
-
-
-
3Gain-
TIMM17A-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TLN1p.K745T
Missense
SNP
0.476
2--
TLR5-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO4p.V260M
Missense
SNP
0.469
2--
TMED9p.D91Y
Missense
SNP
0.437
2--
TMEM108p.T269S
Missense
SNP
0.603
2--
TMEM176Bp.R230Q
Missense
SNP
0.289
2--
TMEM183A-
-
-
-
3Gain-
TMEM2p.C554R
Missense
SNP
0.231
NDND-
TMEM206-
-
-
-
3Gain-
TMEM242p.A44V
Missense
SNP
0.415
2--
TMEM52B-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63Cp.Y316H
Missense
SNP
0.482
2--
TMEM68p.C64Y
Missense
SNP
0.397
2--
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPRSS7p.P357S
Missense
SNP
0.342
2--
TMTC1-
-
-
-
3Gain-
TMX4p.G53D
Missense
SNP
0.466
2--
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11Ap.R111H
Missense
SNP
0.500
2--
TNFRSF1A-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3Ap.E309D
Missense
SNP
0.648
3Gain-
TP53BP2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPR-
-
-
-
3Gain-
TRA2Bp.D185Y
Missense
SNP
0.503
2--
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM27p.X257_splice
Splice_Site
SNP
0.508
2--
TRIM33p.P544S
Missense
SNP
0.296
2--
TRIM46-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM67-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TROVE2-
-
-
-
4Gain-
TRPC6p.W391*
Nonsense
SNP
0.419
2--
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1p.R83Q
Missense
SNP
0.504
2--
TSPAN11-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TUBB6p.T285I
Missense
SNP
0.158
2--
TUFT1-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBE2E2p.I160V
Missense
SNP
0.491
2--
UBE2G2p.D85A
Missense
SNP
0.533
2--
UBE2Q1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UCHL5-
-
-
-
4Gain-
UCK2-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC45Bp.T450M
Missense
SNP
0.514
2--
URB2-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP22p.S510N
Missense
SNP
0.432
2--
USP5-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
VWA3Ap.G79V
Missense
SNP
0.541
2--
VWA8p.S1724G
Missense
SNP
0.540
2--
VWCEp.G78A
Missense
SNP
0.516
2--
VWF-
-
-
-
3Gain-
WAPLp.N50I
Missense
SNP
0.511
2--
WBP11-
-
-
-
3Gain-
WDFY1p.Q246R
Missense
SNP
0.510
2--
WDFY3p.V1393A
Missense
SNP
0.557
2--
WDR24p.L429F
Missense
SNP
0.522
2--
WDR26-
-
-
-
3Gain-
WDR4p.H399N
p.A246T
Missense
Missense
SNP
SNP
0.488
0.473
2--
WDR64-
-
-
-
3Gain-
WFIKKN1p.R521C
Missense
SNP
0.522
2--
WNK1-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT5Ap.T352M
Missense
SNP
0.442
2--
WNT5B-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB7B-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H12Bp.T795I
Missense
SNP
0.251
NDND-
ZFHX3p.Y3344H
Missense
SNP
0.451
2--
ZKSCAN7-
-
-
-
1Loss-
ZNF124-
-
-
-
3Gain-
ZNF197p.R586I
Missense
SNP
0.511
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF316p.H391R
p.R767H
Missense
Missense
SNP
SNP
0.367
0.455
2--
ZNF343p.V479A
Missense
SNP
0.502
2--
ZNF35-
-
-
-
1Loss-
ZNF384-
-
-
-
3Gain-
ZNF496-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF609p.T206S
Missense
SNP
0.481
2--
ZNF648-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF681p.E16D
Missense
SNP
0.511
2--
ZNF687-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF705A-
-
-
-
3Gain-
ZNF804Bp.H609N
p.Q993R
Missense
Missense
SNP
SNP
0.462
0.506
2--
ZNF90p.D148E
Missense
SNP
0.433
2--
ZP4-
-
-
-
3Gain-