PDMR-947758~054-R~UCPB22-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARD-
-
-
-
3GainND
AASS-
-
-
-
3GainND
ABCA13p.W1921*
Nonsense
SNP
0.357
3GainND
ABCB1-
-
-
-
3GainND
ABCB4-
-
-
-
3GainND
ABCB5-
-
-
-
3GainND
ABCB8-
-
-
-
3GainND
ABCC4-
-
-
-
3GainND
ABCF2-
-
-
-
3GainND
ABHD11-
-
-
-
3GainND
ABHD13-
-
-
-
3GainND
ABRA-
-
-
-
3GainND
AC000120.2-
-
-
-
3GainND
AC000120.3-
-
-
-
3GainND
AC001226.2-
-
-
-
3GainND
AC004080.3-
-
-
-
3GainND
AC004593.3-
-
-
-
3GainND
AC004691.2-
-
-
-
3GainND
AC004922.1-
-
-
-
3GainND
AC005020.2-
-
-
-
3GainND
AC005154.5-
-
-
-
3GainND
AC006978.2-
-
-
-
3GainND
AC009879.2-
-
-
-
3GainND
AC009879.3-
-
-
-
3GainND
AC010132.3-
-
-
-
3GainND
AC011005.1-
-
-
-
3GainND
AC012213.5-
-
-
-
3GainND
AC019117.2-
-
-
-
3GainND
AC021097.2-
-
-
-
3GainND
AC021097.3-
-
-
-
3GainND
AC022826.2-
-
-
-
3GainND
AC027644.4-
-
-
-
3GainND
AC036214.3-
-
-
-
3GainND
AC037459.1-
-
-
-
3GainND
AC068533.4-
-
-
-
3GainND
AC073111.3-
-
-
-
3GainND
AC073111.5-
-
-
-
3GainND
AC092647.5-
-
-
-
3GainND
AC093668.1-
-
-
-
3GainND
AC093668.2-
-
-
-
3GainND
AC093668.3-
-
-
-
3GainND
AC100868.1-
-
-
-
3GainND
AC105052.1-
-
-
-
3GainND
AC105052.3-
-
-
-
3GainND
AC107959.5-
-
-
-
3GainND
AC110275.1-
-
-
-
3GainND
AC115220.1-
-
-
-
3GainND
AC138647.1-
-
-
-
3GainND
AC138696.1-
-
-
-
3GainND
AC144573.1-
-
-
-
3GainND
AC187653.1-
-
-
-
3GainND
ACAD10p.A222T
Missense
SNP
0.454
2-ND
ACHE-
-
-
-
3GainND
ACOD1-
-
-
-
3GainND
ACP5p.D165E
Missense
SNP
0.435
2-ND
ACTB-
-
-
-
3GainND
ACTL6B-
-
-
-
3GainND
ACTN4p.K103E
Missense
SNP
0.453
2-ND
ACTR3B-
-
-
-
3GainND
ACTR3C-
-
-
-
3GainND
ACTRT1p.D289G
Missense
SNP
0.604
NDNDND
ADAM18-
-
-
-
3GainND
ADAM2-
-
-
-
3GainND
ADAM22-
-
-
-
3GainND
ADAM28-
-
-
-
3GainND
ADAM32-
-
-
-
3GainND
ADAM33p.F685V
Missense
SNP
0.403
2-ND
ADAM7-
-
-
-
3GainND
ADAM9-
-
-
-
3GainND
ADAMDEC1-
-
-
-
3GainND
ADAMTS12p.S77C
Missense
SNP
0.500
2-ND
ADAMTS6p.H132Q
Missense
SNP
0.463
2-ND
ADAMTSL3p.T354M
Missense
SNP
0.500
2-ND
ADAP1-
-
-
-
3GainND
ADCK2-
-
-
-
3GainND
ADCK5-
-
-
-
3GainND
ADCY1-
-
-
-
3GainND
ADCY2p.E17K
Missense
SNP
0.511
2-ND
ADCY8-
-
-
-
3GainND
ADCYAP1R1-
-
-
-
3GainND
ADGRA2-
-
-
-
3GainND
ADGRB1-
-
-
-
3GainND
ADHFE1-
-
-
-
3GainND
ADPRHL1-
-
-
-
3GainND
ADRA1A-
-
-
-
3GainND
ADRB2p.T195M
Missense
SNP
0.468
2-ND
ADRB3-
-
-
-
3GainND
AEBP1-
-
-
-
3GainND
AGAP3-
-
-
-
3GainND
AGBL3-
-
-
-
3GainND
AGFG2-
-
-
-
3GainND
AGK-
-
-
-
3GainND
AGMO-
-
-
-
3GainND
AGO2-
-
-
-
3GainND
AGO3p.Q311R
Missense
SNP
0.402
2-ND
AGPAT5-
-
-
-
3GainND
AGR2-
-
-
-
3GainND
AGR3-
-
-
-
3GainND
AHCYL2-
-
-
-
3GainND
AHR-
-
-
-
3GainND
AIMP2-
-
-
-
3GainND
AKAP11-
-
-
-
3GainND
AKAP3p.P63H
Missense
SNP
0.359
2-ND
AKAP9-
-
-
-
3GainND
AKR1B1-
-
-
-
3GainND
AKR1B10-
-
-
-
3GainND
AKR1B15-
-
-
-
3GainND
AKR1D1-
-
-
-
3GainND
AL162377.3-
-
-
-
3GainND
AL359736.1-
-
-
-
3GainND
AL445238.1-
-
-
-
4GainND
AL445989.1-
-
-
-
4GainND
AL512506.3-
-
-
-
3GainND
AL592490.1-
-
-
-
3GainND
ALG11-
-
-
-
3GainND
ALG5-
-
-
-
3GainND
ALKAL1-
-
-
-
3GainND
ALKBH4-
-
-
-
3GainND
ALOX12p.K387N
Missense
SNP
0.337
2-ND
ALOX5AP-
-
-
-
3GainND
ALPK1p.S98P
Missense
SNP
0.496
2-ND
AMER2-
-
-
-
3GainND
AMMECR1Lp.G216V
Missense
SNP
0.508
2-ND
AMPH-
-
-
-
3GainND
AMZ1-
-
-
-
3GainND
ANGPT1-
-
-
-
3GainND
ANGPT2-
-
-
-
3GainND
ANHXp.L320P
Missense
SNP
0.535
2-ND
ANK1-
-
-
-
3GainND
ANKIB1-
-
-
-
3GainND
ANKMY2-
-
-
-
3GainND
ANKRD10-
-
-
-
3GainND
ANKRD30Bp.M71V
Missense
SNP
0.519
2-ND
ANKRD36p.K231N
Missense
SNP
0.416
2-ND
ANKRD46-
-
-
-
3GainND
ANKRD61-
-
-
-
3GainND
ANKRD7-
-
-
-
3GainND
ANLN-
-
-
-
3GainND
ANO2p.R477H
Missense
SNP
0.495
2-ND
ANXA13-
-
-
-
3GainND
AOAH-
-
-
-
3GainND
AOC1-
-
-
-
3GainND
AP1S1-
-
-
-
3GainND
AP3B1p.L599P
Missense
SNP
0.589
2-ND
AP3M2-
-
-
-
3GainND
AP4M1-
-
-
-
3GainND
AP5Z1-
-
-
-
3GainND
APOBEC3Fp.Y125H
Missense
SNP
0.492
2-ND
APOOp.K20E
Missense
SNP
0.324
NDNDND
AQP1-
-
-
-
3GainND
ARAP3p.T1534I
Missense
SNP
0.457
2-ND
ARCp.A382T
Missense
SNP
0.598
3GainND
ARF5-
-
-
-
3GainND
ARFGEF1-
-
-
-
3GainND
ARGLU1-
-
-
-
3GainND
ARHGAP23p.S314R
Missense
SNP
0.519
2-ND
ARHGAP39-
-
-
-
3GainND
ARHGEF10-
-
-
-
3GainND
ARHGEF5-
-
-
-
3GainND
ARHGEF7-
-
-
-
3GainND
ARID2p.R143C
Missense
SNP
0.750
2-ND
ARL11-
-
-
-
3GainND
ARL17A-
-
-
-
1LossND
ARL17B-
-
-
-
1LossND
ARL4A-
-
-
-
3GainND
ARMC1-
-
-
-
3GainND
ARMC10-
-
-
-
3GainND
ARPC1A-
-
-
-
3GainND
ARPC1B-
-
-
-
3GainND
ASAH1-
-
-
-
3GainND
ASAP1-
-
-
-
3GainND
ASB10-
-
-
-
3GainND
ASB15-
-
-
-
3GainND
ASB4-
-
-
-
3GainND
ASH2L-
-
-
-
3GainND
ASIC3-
-
-
-
3GainND
ASL-
-
-
-
3GainND
ASNS-
-
-
-
3GainND
ASPH-
-
-
-
3GainND
ASZ1-
-
-
-
3GainND
ATAD2-
-
-
-
3GainND
ATG9B-
-
-
-
3GainND
ATP11A-
-
-
-
3GainND
ATP12A-
-
-
-
3GainND
ATP13A2p.V669A
Missense
SNP
0.480
2-ND
ATP4B-
-
-
-
3GainND
ATP5MF-
-
-
-
3GainND
ATP5MF-PTCD1-
-
-
-
3GainND
ATP6V0A4-
-
-
-
3GainND
ATP6V0D2-
-
-
-
3GainND
ATP6V0E2-
-
-
-
3GainND
ATP6V1B2-
-
-
-
3GainND
ATP6V1C1-
-
-
-
3GainND
ATP6V1F-
-
-
-
3GainND
ATP6V1FNB-
-
-
-
3GainND
ATP6V1H-
-
-
-
3GainND
ATP7B-
-
-
-
3GainND
ATP8A2p.G4D
Missense
SNP
0.301
3GainND
ATRXp.V86L
Missense
SNP
0.286
NDNDND
ATXN7L1-
-
-
-
3GainND
AUTS2-
-
-
-
3GainND
AVENp.V198A
Missense
SNP
0.442
2-ND
AVL9-
-
-
-
3GainND
AVPp.A139T
Missense
SNP
0.390
2-ND
AXIN2p.G406C
Missense
SNP
0.528
2-ND
AZGP1-
-
-
-
3GainND
AZIN1-
-
-
-
3GainND
B3GLCT-
-
-
-
3GainND
B3GNT9p.D109N
Missense
SNP
0.489
2-ND
B4GALT6p.N75S
Missense
SNP
0.406
2-ND
BAALC-
-
-
-
3GainND
BAG4-
-
-
-
3GainND
BAIAP2L1-
-
-
-
3GainND
BAZ1B-
-
-
-
3GainND
BBS7p.A665V
Missense
SNP
0.452
2-ND
BBS9-
-
-
-
3GainND
BCAP29-
-
-
-
3GainND
BCL11Bp.L604I
Missense
SNP
0.466
2-ND
BCL7B-
-
-
-
3GainND
BET1-
-
-
-
3GainND
BHLHA15-
-
-
-
3GainND
BHLHE22-
-
-
-
3GainND
BIN3-
-
-
-
3GainND
BIVM-
-
-
-
3GainND
BIVM-ERCC5-
-
-
-
3GainND
BLK-
-
-
-
3GainND
BLVRA-
-
-
-
3GainND
BMP1-
-
-
-
3GainND
BMPER-
-
-
-
3GainND
BMT2-
-
-
-
3GainND
BNIP3L-
-
-
-
3GainND
BOP1-
-
-
-
3GainND
BORAp.E438G
Missense
SNP
0.332
3GainND
BPGM-
-
-
-
3GainND
BRAFp.V600E
Missense
SNP
0.303
3GainND
BRAT1-
-
-
-
3GainND
BRCA2-
-
-
-
3GainND
BRF2-
-
-
-
3GainND
BRI3-
-
-
-
3GainND
BRINP3-
-
-
-
3GainND
BRMS1p.T227R
Missense
SNP
0.515
2-ND
BTNL3-
-
-
-
1LossND
BUD23-
-
-
-
3GainND
BUD31-
-
-
-
3GainND
BZW2-
-
-
-
3GainND
C11orf58p.R55C
Missense
SNP
0.375
2-ND
C11orf63p.D354Y
Missense
SNP
0.557
NDNDND
C16orf62p.L552I
Missense
SNP
0.481
NDNDND
C17orf47p.R191H
Missense
SNP
0.486
2-ND
C1GALT1-
-
-
-
3GainND
C1orf43p.A189V
Missense
SNP
0.512
2-ND
C1QL2p.R230W
Missense
SNP
0.429
2-ND
C1QTNF9-
-
-
-
3GainND
C1QTNF9B-
-
-
-
3GainND
C2orf42p.F222C
Missense
SNP
0.519
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C7orf25-
-
-
-
3GainND
C7orf26-
-
-
-
3GainND
C7orf31-
-
-
-
3GainND
C7orf33-
-
-
-
3GainND
C7orf43-
-
-
-
3GainND
C7orf50-
-
-
-
3GainND
C7orf55-LUC7L2-
-
-
-
3GainND
C7orf57-
-
-
-
3GainND
C7orf61-
-
-
-
3GainND
C7orf77-
-
-
-
3GainND
C8Gp.Q98*
Nonsense
SNP
0.542
2-ND
C8orf33-
-
-
-
3GainND
C8orf34-
-
-
-
3GainND
C8orf37-
-
-
-
3GainND
C8orf4p.E46*
Nonsense
SNP
0.629
NDNDND
C8orf44-
-
-
-
3GainND
C8orf48-
-
-
-
3GainND
C8orf58-
-
-
-
3GainND
C8orf59-
-
-
-
3GainND
C8orf74-
-
-
-
3GainND
C8orf76-
-
-
-
3GainND
C8orf82-
-
-
-
3GainND
C8orf86-
-
-
-
3GainND
C8orf88-
-
-
-
3GainND
C8orf89-
-
-
-
3GainND
C9orf78p.E162K
Missense
SNP
0.429
2-ND
CA1-
-
-
-
3GainND
CA13-
-
-
-
3GainND
CA2-
-
-
-
3GainND
CA3-
-
-
-
3GainND
CA8-
-
-
-
3GainND
CAB39L-
-
-
-
3GainND
CABP4p.E45K
Missense
SNP
0.438
2-ND
CACNA1Ep.V162G
Missense
SNP
0.487
2-ND
CACNA1Ip.R1272Q
Missense
SNP
0.500
2-ND
CACNA2D1-
-
-
-
3GainND
CACNG5p.R69W
Missense
SNP
0.457
2-ND
CACUL1p.A301T
Missense
SNP
0.465
2-ND
CADPS2-
-
-
-
3GainND
CALB1-
-
-
-
3GainND
CALCR-
-
-
-
3GainND
CALD1-
-
-
-
3GainND
CALN1-
-
-
-
3GainND
CALU-
-
-
-
3GainND
CAMK2B-
-
-
-
3GainND
CAPZA2-
-
-
-
3GainND
CARD11-
-
-
-
3GainND
CARMIL2p.R1386H
Missense
SNP
0.485
2-ND
CARNS1p.G525D
Missense
SNP
0.528
2-ND
CARS2-
-
-
-
3GainND
CASC5p.F1899L
Missense
SNP
0.598
NDNDND
CASD1-
-
-
-
3GainND
CASP2-
-
-
-
3GainND
CASTOR2-
-
-
-
3GainND
CASTOR3-
-
-
-
3GainND
CATSPERDp.R53H
Missense
SNP
0.505
2-ND
CAV1-
-
-
-
3GainND
CAV2-
-
-
-
3GainND
CBLL1-
-
-
-
3GainND
CBR1p.R159H
Missense
SNP
0.498
2-ND
CBX3-
-
-
-
3GainND
CCAR2-
-
-
-
3GainND
CCDC105p.V179I
Missense
SNP
0.459
2-ND
CCDC122-
-
-
-
3GainND
CCDC126-
-
-
-
3GainND
CCDC136-
-
-
-
3GainND
CCDC146-
-
-
-
3GainND
CCDC148p.L477I
Missense
SNP
0.432
2-ND
CCDC166-
-
-
-
3GainND
CCDC168-
-
-
-
3GainND
CCDC169-
-
-
-
3GainND
CCDC169-SOHLH2-
-
-
-
3GainND
CCDC25-
-
-
-
3GainND
CCDC70-
-
-
-
3GainND
CCDC71L-
-
-
-
3GainND
CCDC83p.W70*
p.R117H
Nonsense
Missense
SNP
SNP
0.466
0.360
2-ND
CCDC9p.G225D
Missense
SNP
0.509
2-ND
CCL24-
-
-
-
3GainND
CCL26-
-
-
-
3GainND
CCM2-
-
-
-
3GainND
CCNA1-
-
-
-
3GainND
CCNE2-
-
-
-
3GainND
CCSAPp.S80P
Missense
SNP
0.424
2-ND
CCT6A-
-
-
-
3GainND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD109p.C530R
Missense
SNP
0.528
2-ND
CD300Ep.V177M
Missense
SNP
0.447
2-ND
CD36-
-
-
-
3GainND
CD69p.R134*
Nonsense
SNP
0.441
2-ND
CDADC1-
-
-
-
3GainND
CDC14C-
-
-
-
3GainND
CDC16-
-
-
-
3GainND
CDC25Bp.L65P
Missense
SNP
0.554
2-ND
CDCA2-
-
-
-
3GainND
CDCA7L-
-
-
-
3GainND
CDH17-
-
-
-
3GainND
CDH9-
-
-
-
3GainND
CDHR3-
-
-
-
3GainND
CDK11A-
-
-
-
1LossND
CDK11B-
-
-
-
1LossND
CDK13-
-
-
-
3GainND
CDK14-
-
-
-
3GainND
CDK5-
-
-
-
3GainND
CDK6-
-
-
-
3GainND
CDK8-
-
-
-
3GainND
CDX2-
-
-
-
3GainND
CEBPD-
-
-
-
3GainND
CELF3p.Y43H
Missense
SNP
0.531
2-ND
CENPJ-
-
-
-
3GainND
CEP41-
-
-
-
3GainND
CEP68p.A711T
Missense
SNP
0.600
2-ND
CES5Ap.R19I
Missense
SNP
0.464
2-ND
CFAP43p.X322_splice
Splice_Site
SNP
0.568
2-ND
CFAP69-
-
-
-
3GainND
CFPp.R403C
Missense
SNP
0.691
NDNDND
CFTR-
-
-
-
3GainND
CHAMP1-
-
-
-
3GainND
CHCHD2-
-
-
-
3GainND
CHCHD3-
-
-
-
3GainND
CHCHD5p.A80V
Missense
SNP
0.519
2-ND
CHCHD7-
-
-
-
3GainND
CHD7-
-
-
-
3GainND
CHMP4C-
-
-
-
3GainND
CHMP7-
-
-
-
3GainND
CHN2-
-
-
-
3GainND
CHPF2-
-
-
-
3GainND
CHRAC1-
-
-
-
3GainND
CHRM2-
-
-
-
3GainND
CHRNA2-
-
-
-
3GainND
CHRNA6-
-
-
-
3GainND
CHRNB3-
-
-
-
3GainND
CHST12-
-
-
-
3GainND
CIAO1p.X47_splice
Splice_Site
SNP
0.347
2-ND
CILPp.R263*
Nonsense
SNP
0.499
2-ND
CISHp.P75S
Missense
SNP
0.439
2-ND
CKAP2-
-
-
-
3GainND
CLCN1-
-
-
-
3GainND
CLDN10-
-
-
-
3GainND
CLDN12-
-
-
-
3GainND
CLDN15-
-
-
-
3GainND
CLDN23-
-
-
-
3GainND
CLDN3-
-
-
-
3GainND
CLDN4-
-
-
-
3GainND
CLEC2L-
-
-
-
3GainND
CLEC3Bp.K76T
Missense
SNP
0.394
2-ND
CLEC5A-
-
-
-
3GainND
CLIP2-
-
-
-
3GainND
CLN5-
-
-
-
3GainND
CLN8-
-
-
-
3GainND
CLP1p.R19*
Nonsense
SNP
0.400
2-ND
CLU-
-
-
-
3GainND
CLVS1-
-
-
-
3GainND
CLYBL-
-
-
-
3GainND
CNBD1-
-
-
-
3GainND
CNGB3-
-
-
-
3GainND
CNMD-
-
-
-
3GainND
CNOT4-
-
-
-
3GainND
CNOT7-
-
-
-
3GainND
CNPY1-
-
-
-
3GainND
CNPY4-
-
-
-
3GainND
CNTNAP2p.P1112S
Missense
SNP
0.325
6AmpND
COA1-
-
-
-
3GainND
COBL-
-
-
-
3GainND
COBLL1p.G507A
Missense
SNP
0.396
2-ND
COG3-
-
-
-
3GainND
COG5-
-
-
-
3GainND
COG6-
-
-
-
3GainND
COL14A1-
-
-
-
3GainND
COL1A2-
-
-
-
3GainND
COL20A1p.R625H
Missense
SNP
0.484
2-ND
COL22A1-
-
-
-
3GainND
COL26A1-
-
-
-
3GainND
COL28A1-
-
-
-
3GainND
COL4A1-
-
-
-
3GainND
COL4A2-
-
-
-
3GainND
COL6A4P1.
Splice_Site
SNP
0.633
NDNDND
COLEC10-
-
-
-
3GainND
COMMD5-
-
-
-
3GainND
COMMD6-
-
-
-
3GainND
COPG2p.S824P
Missense
SNP
0.341
3GainND
COPS5-
-
-
-
3GainND
COPS6p.V286M
Missense
SNP
0.296
3GainND
COX19-
-
-
-
3GainND
COX6C-
-
-
-
3GainND
CPA1-
-
-
-
3GainND
CPA2-
-
-
-
3GainND
CPA4-
-
-
-
3GainND
CPA5-
-
-
-
3GainND
CPA6-
-
-
-
3GainND
CPB2-
-
-
-
3GainND
CPED1p.K915E
Missense
SNP
0.327
3GainND
CPNE3-
-
-
-
3GainND
CPQ-
-
-
-
3GainND
CPSF1-
-
-
-
3GainND
CPSF4-
-
-
-
3GainND
CPVL-
-
-
-
3GainND
CRB2p.A1135T
Missense
SNP
0.478
2-ND
CRCP-
-
-
-
3GainND
CREB3L2-
-
-
-
3GainND
CREB5-
-
-
-
3GainND
CRH-
-
-
-
3GainND
CRHR2p.A4V
Missense
SNP
0.369
3GainND
CRISPLD1-
-
-
-
3GainND
CROT-
-
-
-
3GainND
CRYGBp.G14C
Missense
SNP
0.454
2-ND
CRYGN-
-
-
-
3GainND
CRYL1-
-
-
-
3GainND
CSGALNACT1-
-
-
-
3GainND
CSMD1-
-
-
-
3GainND
CSMD3-
-
-
-
3GainND
CSNK1A1L-
-
-
-
3GainND
CSPP1-
-
-
-
3GainND
CTAGE4-
-
-
-
3GainND
CTAGE8-
-
-
-
3GainND
CTBP2p.R831*
p.R738*
Nonsense
Nonsense
SNP
SNP
0.429
0.113
2-ND
CTHRC1-
-
-
-
3GainND
CTSB-
-
-
-
3GainND
CTTNp.X264_splice
Splice_Site
SNP
0.492
2-ND
CTTNBP2-
-
-
-
3GainND
CUBNp.P3288L
Missense
SNP
0.438
2-ND
CUL1-
-
-
-
3GainND
CUL4A-
-
-
-
3GainND
CUX1-
-
-
-
3GainND
CUZD1p.A213V
Missense
SNP
0.497
2-ND
CWH43p.A291S
Missense
SNP
0.471
2-ND
CYC1-
-
-
-
3GainND
CYCS-
-
-
-
3GainND
CYHR1-
-
-
-
3GainND
CYP11B1-
-
-
-
3GainND
CYP11B2-
-
-
-
3GainND
CYP21A2-
-
-
-
1LossND
CYP27B1p.H336Y
Missense
SNP
0.488
2-ND
CYP2S1p.P36H
Missense
SNP
0.474
2-ND
CYP2W1-
-
-
-
3GainND
CYP3A4-
-
-
-
3GainND
CYP3A43-
-
-
-
3GainND
CYP3A5-
-
-
-
3GainND
CYP3A7-
-
-
-
3GainND
CYP3A7-CYP3A51P-
-
-
-
3GainND
CYP51A1-
-
-
-
3GainND
CYP7A1-
-
-
-
3GainND
CYP7B1-
-
-
-
3GainND
CYREN-
-
-
-
3GainND
CYSLTR2-
-
-
-
3GainND
CYTH3-
-
-
-
3GainND
DACH1-
-
-
-
4GainND
DAGLAp.C935*
Nonsense
SNP
0.480
2-ND
DAGLB-
-
-
-
3GainND
DAOA-
-
-
-
3GainND
DBF4-
-
-
-
3GainND
DBNL-
-
-
-
3GainND
DBR1p.V200A
Missense
SNP
0.496
2-ND
DCAF13-
-
-
-
3GainND
DCAF4L2-
-
-
-
3GainND
DCHS2p.Q2158R
Missense
SNP
0.489
2-ND
DCLK1-
-
-
-
3GainND
DCLRE1Ap.C949Y
Missense
SNP
0.472
2-ND
DCLRE1Cp.L358S
Missense
SNP
0.480
2-ND
DCSTAMP-
-
-
-
3GainND
DCT-
-
-
-
3GainND
DCTN6-
-
-
-
3GainND
DCUN1D2-
-
-
-
3GainND
DDC-
-
-
-
3GainND
DDHD2-
-
-
-
3GainND
DDX56-
-
-
-
3GainND
DECR1-
-
-
-
3GainND
DEFA4-
-
-
-
3GainND
DEFA5-
-
-
-
3GainND
DEFA6-
-
-
-
3GainND
DEFB1-
-
-
-
3GainND
DEFB103A-
-
-
-
3GainND
DEFB103B-
-
-
-
3GainND
DEFB104A-
-
-
-
3GainND
DEFB104B-
-
-
-
3GainND
DEFB105A-
-
-
-
3GainND
DEFB105B-
-
-
-
3GainND
DEFB106A-
-
-
-
3GainND
DEFB106B-
-
-
-
3GainND
DEFB107A-
-
-
-
3GainND
DEFB107B-
-
-
-
3GainND
DEFB134-
-
-
-
3GainND
DEFB135-
-
-
-
3GainND
DEFB136-
-
-
-
3GainND
DEFB4A-
-
-
-
3GainND
DEFB4B-
-
-
-
3GainND
DENND2A-
-
-
-
3GainND
DENND3-
-
-
-
3GainND
DEPTOR-
-
-
-
3GainND
DERL1-
-
-
-
3GainND
DERL3p.F49S
Missense
SNP
0.427
2-ND
DGAT1-
-
-
-
3GainND
DGCR8p.G173C
Missense
SNP
0.485
2-ND
DGKBp.R681*
p.T213I
Nonsense
Missense
SNP
SNP
0.351
0.265
3GainND
DGKH-
-
-
-
3GainND
DGKI-
-
-
-
3GainND
DHRS12-
-
-
-
3GainND
DHX30p.A446T
Missense
SNP
0.418
2-ND
DIAPH3-
-
-
-
3GainND
DIS3-
-
-
-
3GainND
DKK4-
-
-
-
3GainND
DLC1-
-
-
-
3GainND
DLD-
-
-
-
3GainND
DLEU7-
-
-
-
3GainND
DLGAP2-
-
-
-
3GainND
DLX5-
-
-
-
3GainND
DLX6-
-
-
-
3GainND
DMTF1-
-
-
-
3GainND
DMTN-
-
-
-
3GainND
DNAAF5-
-
-
-
3GainND
DNAH11-
-
-
-
3GainND
DNAH8p.E2304D
Missense
SNP
1.000
2-ND
DNAJB6-
-
-
-
3GainND
DNAJB9-
-
-
-
3GainND
DNAJC15-
-
-
-
3GainND
DNAJC2-
-
-
-
3GainND
DNAJC3-
-
-
-
3GainND
DNAJC30-
-
-
-
3GainND
DNAJC5B-
-
-
-
3GainND
DNASE1L2p.C42R
p.G43S
Missense
Missense
SNP
SNP
0.440
0.449
2-ND
DNMT1p.N709S
Missense
SNP
0.481
2-ND
DOCK2p.L360I
Missense
SNP
0.521
2-ND
DOCK4-
-
-
-
3GainND
DOCK5-
-
-
-
3GainND
DOCK9p.F1462L
Missense
SNP
0.684
3GainND
DOK2-
-
-
-
3GainND
DOT1Lp.M71I
Missense
SNP
0.524
2-ND
DPP6-
-
-
-
3GainND
DPY19L1-
-
-
-
3GainND
DPY19L4-
-
-
-
3GainND
DPYS-
-
-
-
3GainND
DPYSL2-
-
-
-
3GainND
DSCC1-
-
-
-
3GainND
DSCR4p.T7M
Missense
SNP
0.504
NDNDND
DTX2-
-
-
-
3GainND
DUS4L-
-
-
-
3GainND
DUSP26-
-
-
-
3GainND
DUSP4-
-
-
-
3GainND
DYNC1I1-
-
-
-
3GainND
DYRK1Ap.I74V
Missense
SNP
0.436
2-ND
DZIP1-
-
-
-
3GainND
DZIP1Lp.R233Q
Missense
SNP
0.476
2-ND
E2F5-
-
-
-
3GainND
E4F1p.I761F
Missense
SNP
0.515
2-ND
EBAG9-
-
-
-
3GainND
EBF2-
-
-
-
3GainND
EBPL-
-
-
-
3GainND
EDNRBp.R54C
Missense
SNP
0.294
3GainND
EEA1p.E1139A
Missense
SNP
0.485
2-ND
EEF1AKMT1-
-
-
-
3GainND
EEF1D-
-
-
-
3GainND
EEPD1-
-
-
-
3GainND
EFCAB1-
-
-
-
3GainND
EFCAB10-
-
-
-
3GainND
EFNB2-
-
-
-
3GainND
EFR3A-
-
-
-
3GainND
EGFL8p.V236D
Missense
SNP
1.000
2-ND
EGFR-
-
-
-
3GainND
EGR3-
-
-
-
3GainND
EHD2p.L263I
Missense
SNP
0.528
2-ND
EIF2AK1-
-
-
-
3GainND
EIF3B-
-
-
-
3GainND
EIF3E-
-
-
-
3GainND
EIF3H-
-
-
-
3GainND
EIF4E1Bp.D115E
Missense
SNP
0.527
2-ND
EIF4EBP1-
-
-
-
3GainND
EIF4H-
-
-
-
3GainND
ELF1-
-
-
-
3GainND
ELFN1-
-
-
-
3GainND
ELMO1-
-
-
-
3GainND
ELN-
-
-
-
3GainND
ELOC-
-
-
-
3GainND
ELP3-
-
-
-
3GainND
EMC2-
-
-
-
3GainND
EMSYp.P1089L
Missense
DNP
0.335
2-ND
EN2-
-
-
-
3GainND
ENOX1-
-
-
-
3GainND
ENPP2-
-
-
-
3GainND
ENTPD4-
-
-
-
3GainND
ENY2-
-
-
-
3GainND
EPDR1-
-
-
-
3GainND
EPHA1-
-
-
-
3GainND
EPHB4-
-
-
-
3GainND
EPHB6-
-
-
-
3GainND
EPHX2-
-
-
-
3GainND
EPO-
-
-
-
3GainND
EPPK1-
-
-
-
3GainND
EPSTI1-
-
-
-
3GainND
ERCC5-
-
-
-
3GainND
ERI1-
-
-
-
3GainND
ERICH1-
-
-
-
3GainND
ERICH5-
-
-
-
3GainND
ERICH6B-
-
-
-
3GainND
ERLIN2-
-
-
-
3GainND
ERV3-1-
-
-
-
3GainND
ESCO2-
-
-
-
3GainND
ESD-
-
-
-
3GainND
ESPL1p.K515E
Missense
SNP
0.486
2-ND
ESRP1-
-
-
-
3GainND
ESYT2-
-
-
-
3GainND
ETS1p.S26F
Missense
SNP
0.417
2-ND
ETV1-
-
-
-
3GainND
EVI5Lp.R615H
Missense
SNP
0.479
2-ND
EVX1p.R184C
Missense
SNP
0.274
3GainND
EXOC4-
-
-
-
3GainND
EXOC6Bp.L479R
Missense
SNP
0.500
2-ND
EXOSC4-
-
-
-
3GainND
EXOSC8-
-
-
-
3GainND
EXT1-
-
-
-
3GainND
EXTL3-
-
-
-
3GainND
EYA1-
-
-
-
3GainND
EZH2-
-
-
-
3GainND
F10-
-
-
-
3GainND
F7-
-
-
-
3GainND
FAAP100p.Y829C
Missense
SNP
0.496
2-ND
FABP1p.K121E
Missense
SNP
0.423
2-ND
FABP12-
-
-
-
3GainND
FABP4-
-
-
-
3GainND
FABP5-
-
-
-
3GainND
FABP9-
-
-
-
3GainND
FAM110B-
-
-
-
3GainND
FAM124Ap.R472M
Missense
SNP
0.294
3GainND
FAM126Ap.I230T
Missense
SNP
0.645
3GainND
FAM131B-
-
-
-
3GainND
FAM133B-
-
-
-
3GainND
FAM135B-
-
-
-
3GainND
FAM149A-
-
-
-
1LossND
FAM155A-
-
-
-
3GainND
FAM160B2-
-
-
-
3GainND
FAM167A-
-
-
-
3GainND
FAM180A-
-
-
-
3GainND
FAM185A-
-
-
-
3GainND
FAM200A-
-
-
-
3GainND
FAM20C-
-
-
-
3GainND
FAM216B-
-
-
-
3GainND
FAM220A-
-
-
-
3GainND
FAM221A-
-
-
-
3GainND
FAM3C-
-
-
-
3GainND
FAM49B-
-
-
-
3GainND
FAM71F1-
-
-
-
3GainND
FAM71F2-
-
-
-
3GainND
FAM83A-
-
-
-
3GainND
FAM83H-
-
-
-
3GainND
FAM84B-
-
-
-
3GainND
FAM91A1-
-
-
-
3GainND
FAM92A-
-
-
-
3GainND
FARP1-
-
-
-
3GainND
FASNp.R2026H
Missense
SNP
0.463
2-ND
FASTK-
-
-
-
3GainND
FBXL13-
-
-
-
3GainND
FBXL18-
-
-
-
3GainND
FBXL3-
-
-
-
3GainND
FBXL6-
-
-
-
3GainND
FBXO16-
-
-
-
3GainND
FBXO24-
-
-
-
3GainND
FBXO25-
-
-
-
3GainND
FBXO32-
-
-
-
3GainND
FBXO43-
-
-
-
3GainND
FBXW11p.X463_splice
Splice_Site
SNP
0.436
2-ND
FCGBPp.H3648Y
Missense
SNP
0.480
2-ND
FCGR1A-
-
-
-
1LossND
FDFT1-
-
-
-
3GainND
FER1L5p.A756D
Missense
SNP
0.552
2-ND
FER1L6-
-
-
-
3GainND
FERD3L-
-
-
-
3GainND
FESp.G641V
Missense
SNP
0.455
2-ND
FEZF1-
-
-
-
3GainND
FGF12p.V111M
Missense
SNP
0.480
2-ND
FGF14-
-
-
-
3GainND
FGF17-
-
-
-
3GainND
FGF20-
-
-
-
3GainND
FGF9-
-
-
-
3GainND
FGFR1-
-
-
-
3GainND
FGL1-
-
-
-
3GainND
FGL2-
-
-
-
3GainND
FHOD3p.R1538*
Nonsense
SNP
0.460
2-ND
FIGNL1-
-
-
-
3GainND
FIS1-
-
-
-
3GainND
FKBP14-
-
-
-
3GainND
FKBP6-
-
-
-
3GainND
FKBP9-
-
-
-
3GainND
FLNC-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FLT1-
-
-
-
3GainND
FLT3-
-
-
-
3GainND
FMC1-
-
-
-
3GainND
FN1p.A1812S
Missense
SNP
0.783
2-ND
FNDC3A-
-
-
-
3GainND
FNTA-
-
-
-
3GainND
FOXH1-
-
-
-
3GainND
FOXK1-
-
-
-
3GainND
FOXO1-
-
-
-
3GainND
FOXP2-
-
-
-
3GainND
FREM2-
-
-
-
3GainND
FRY-
-
-
-
3GainND
FSBP-
-
-
-
3GainND
FSCN1p.A475T
Missense
SNP
0.341
3GainND
FSCN3-
-
-
-
3GainND
FUT10-
-
-
-
3GainND
FYCO1p.A776V
Missense
SNP
0.545
2-ND
FZD1-
-
-
-
3GainND
FZD3-
-
-
-
3GainND
FZD6-
-
-
-
3GainND
FZD9-
-
-
-
3GainND
GAL3ST4-
-
-
-
3GainND
GALCp.K474*
Nonsense
SNP
0.412
2-ND
GALNT11-
-
-
-
3GainND
GALNT17-
-
-
-
3GainND
GALNTL5-
-
-
-
3GainND
GALNTL6p.L30M
Missense
SNP
0.429
2-ND
GARS-
-
-
-
3GainND
GAS6-
-
-
-
3GainND
GATA4-
-
-
-
3GainND
GATAD1-
-
-
-
3GainND
GBX1-
-
-
-
3GainND
GCC1-
-
-
-
3GainND
GCK-
-
-
-
3GainND
GCN1p.K475N
Missense
SNP
0.440
2-ND
GDAP1-
-
-
-
3GainND
GDF6-
-
-
-
3GainND
GDPD1p.V186A
Missense
SNP
0.380
2-ND
GEM-
-
-
-
3GainND
GET4-
-
-
-
3GainND
GFRA2-
-
-
-
3GainND
GGACT-
-
-
-
3GainND
GGCT-
-
-
-
3GainND
GGH-
-
-
-
3GainND
GHRHR-
-
-
-
3GainND
GIGYF1-
-
-
-
3GainND
GIMAP1-
-
-
-
3GainND
GIMAP1-GIMAP5-
-
-
-
3GainND
GIMAP2-
-
-
-
3GainND
GIMAP4-
-
-
-
3GainND
GIMAP5-
-
-
-
3GainND
GIMAP6-
-
-
-
3GainND
GIMAP7-
-
-
-
3GainND
GIMAP8-
-
-
-
3GainND
GINS4-
-
-
-
3GainND
GJA3-
-
-
-
3GainND
GJB2-
-
-
-
3GainND
GJB6-
-
-
-
3GainND
GJC3-
-
-
-
3GainND
GLCCI1-
-
-
-
3GainND
GLI3p.A1549V
Missense
SNP
0.307
3GainND
GLI4-
-
-
-
3GainND
GLULp.A191V
Missense
SNP
0.550
2-ND
GLYR1p.V12A
Missense
SNP
0.363
2-ND
GML-
-
-
-
3GainND
GNA12-
-
-
-
3GainND
GNAI1-
-
-
-
3GainND
GNAT3-
-
-
-
3GainND
GNB2-
-
-
-
3GainND
GNG11-
-
-
-
3GainND
GNGT1-
-
-
-
3GainND
GNRH1-
-
-
-
3GainND
GOLGA7-
-
-
-
3GainND
GOT1L1-
-
-
-
3GainND
GPAA1-
-
-
-
3GainND
GPALPP1-
-
-
-
3GainND
GPAT4-
-
-
-
3GainND
GPBAR1p.E169K
Missense
SNP
0.487
2-ND
GPC2-
-
-
-
3GainND
GPC5-
-
-
-
4GainND
GPC6p.X430_splice
Splice_Site
SNP
0.838
4GainND
GPER1-
-
-
-
3GainND
GPHNp.E178D
Missense
SNP
0.476
2-ND
GPIHBP1-
-
-
-
3GainND
GPNMB-
-
-
-
3GainND
GPR12-
-
-
-
3GainND
GPR141-
-
-
-
3GainND
GPR146-
-
-
-
3GainND
GPR18-
-
-
-
3GainND
GPR180-
-
-
-
3GainND
GPR183-
-
-
-
3GainND
GPR20-
-
-
-
3GainND
GPR22-
-
-
-
3GainND
GPR26p.T191M
Missense
SNP
0.502
2-ND
GPR37-
-
-
-
3GainND
GPR39p.R193H
Missense
SNP
0.497
2-ND
GPR85-
-
-
-
3GainND
GPRC5Bp.V131I
Missense
SNP
0.520
2-ND
GPRIN1p.A974V
Missense
SNP
0.561
2-ND
GPTp.R31W
Missense
SNP
0.659
3GainND
GRB10-
-
-
-
3GainND
GRHL2-
-
-
-
3GainND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIN2Dp.Y1168C
Missense
SNP
0.478
2-ND
GRINA-
-
-
-
3GainND
GRIP1p.A670V
Missense
SNP
0.468
2-ND
GRK1-
-
-
-
3GainND
GRK5p.R74M
Missense
SNP
0.366
2-ND
GRK6p.A567V
Missense
SNP
0.516
2-ND
GRM3-
-
-
-
3GainND
GRM8-
-
-
-
3GainND
GRTP1-
-
-
-
3GainND
GSAPp.D423E
Missense
SNP
0.350
3GainND
GSDMC-
-
-
-
3GainND
GSDMDp.S31P
Missense
SNP
0.338
3GainND
GSDME-
-
-
-
3GainND
GSG2p.G290D
Missense
SNP
0.442
NDNDND
GSR-
-
-
-
3GainND
GSTK1-
-
-
-
3GainND
GSX1-
-
-
-
3GainND
GTF2E2-
-
-
-
3GainND
GTF2F2-
-
-
-
3GainND
GTF2I-
-
-
-
3GainND
GTF2IRD1p.C386Y
Missense
SNP
0.341
3GainND
GTF2IRD2-
-
-
-
3GainND
GTF2IRD2B-
-
-
-
3GainND
GTF3A-
-
-
-
3GainND
GTPBP10-
-
-
-
3GainND
GUCY2Dp.A169V
Missense
SNP
0.541
2-ND
GUSB-
-
-
-
3GainND
H2AFV-
-
-
-
3GainND
HARS2p.R327W
Missense
SNP
0.456
2-ND
HAS2-
-
-
-
3GainND
HBP1-
-
-
-
3GainND
HCAR2p.R251W
Missense
SNP
0.244
2-ND
HDAC6p.A603T
Missense
SNP
0.437
NDNDND
HDAC9-
-
-
-
3GainND
HECW1-
-
-
-
3GainND
HEPACAM2-
-
-
-
3GainND
HERPUD2-
-
-
-
3GainND
HEY1-
-
-
-
3GainND
HGF-
-
-
-
3GainND
HGH1-
-
-
-
3GainND
HGSNAT-
-
-
-
3GainND
HHLA1-
-
-
-
3GainND
HIBADH-
-
-
-
3GainND
HIGD1Ap.R78H
Missense
SNP
0.595
2-ND
HILPDA-
-
-
-
3GainND
HIP1-
-
-
-
3GainND
HIPK2-
-
-
-
3GainND
HIST1H2BKp.R34P
Missense
SNP
0.161
2-ND
HIST2H2AA3-
-
-
-
1LossND
HIST2H2AA4-
-
-
-
1LossND
HIST2H2AC-
-
-
-
1LossND
HIST2H2BE-
-
-
-
1LossND
HIST2H2BF-
-
-
-
1LossND
HIST2H3A-
-
-
-
1LossND
HIST2H3C-
-
-
-
1LossND
HIST2H3D-
-
-
-
1LossND
HIST2H4A-
-
-
-
1LossND
HIST2H4B-
-
-
-
1LossND
HIVEP2p.E2025*
p.R1028*
Nonsense
Nonsense
SNP
SNP
0.526
0.514
2-ND
HMBOX1-
-
-
-
3GainND
HMGB1-
-
-
-
3GainND
HNF4G-
-
-
-
3GainND
HNRNPA2B1-
-
-
-
3GainND
HOOK3-
-
-
-
3GainND
HOXA1-
-
-
-
3GainND
HOXA10p.G285S
Missense
SNP
0.566
3GainND
HOXA11-
-
-
-
3GainND
HOXA13-
-
-
-
3GainND
HOXA2-
-
-
-
3GainND
HOXA3-
-
-
-
3GainND
HOXA4-
-
-
-
3GainND
HOXA5-
-
-
-
3GainND
HOXA6-
-
-
-
3GainND
HOXA7-
-
-
-
3GainND
HOXA9-
-
-
-
3GainND
HPNp.A59V
Missense
SNP
0.465
2-ND
HRp.A492E
Missense
SNP
0.643
3GainND
HS3ST3B1p.G149D
Missense
SNP
0.515
2-ND
HS6ST3-
-
-
-
3GainND
HSBP1L1p.X18_splice
Splice_Site
SNP
0.469
2-ND
HSF1-
-
-
-
3GainND
HSPB1-
-
-
-
3GainND
HSPH1-
-
-
-
3GainND
HTATIP2p.A150V
Missense
SNP
0.469
2-ND
HTR2A-
-
-
-
3GainND
HTR5A-
-
-
-
3GainND
HTRA4-
-
-
-
3GainND
HUS1-
-
-
-
3GainND
HYAL4-
-
-
-
3GainND
IBTKp.S1217R
Missense
SNP
0.661
2-ND
ICA1-
-
-
-
3GainND
ICAM5p.G741V
Missense
SNP
0.480
2-ND
IDO1-
-
-
-
3GainND
IDO2-
-
-
-
3GainND
IFRD1-
-
-
-
3GainND
IFT122p.X91_splice
Splice_Site
SNP
0.495
2-ND
IFT22-
-
-
-
3GainND
IFT88-
-
-
-
3GainND
IGDCC3p.R431W
Missense
SNP
0.542
2-ND
IGF2BP3-
-
-
-
3GainND
IGFBP1-
-
-
-
3GainND
IGFBP3-
-
-
-
3GainND
IGKV2-24p.G91W
Missense
SNP
0.534
NDNDND
IKBKB-
-
-
-
3GainND
IKZF1-
-
-
-
3GainND
IL17D-
-
-
-
3GainND
IL17RELp.P241L
Missense
SNP
0.498
2-ND
IL1Ap.G169C
Missense
SNP
0.409
2-ND
IL1RAPL1p.R106W
Missense
SNP
0.646
NDNDND
IL6-
-
-
-
3GainND
IL7-
-
-
-
3GainND
IMMP2L-
-
-
-
3GainND
IMPA1-
-
-
-
3GainND
IMPAD1-
-
-
-
3GainND
IMPDH1p.V272A
Missense
SNP
0.278
3GainND
ING1-
-
-
-
3GainND
ING3-
-
-
-
3GainND
INHBA-
-
-
-
3GainND
INMT-
-
-
-
3GainND
INMT-MINDY4-
-
-
-
3GainND
INPP5Ap.V229I
Missense
SNP
0.422
2-ND
INSIG1-
-
-
-
3GainND
INTS1p.L1244Q
Missense
SNP
0.358
3GainND
INTS10-
-
-
-
3GainND
INTS4p.G307D
Missense
SNP
0.241
2-ND
INTS6-
-
-
-
3GainND
INTS8-
-
-
-
3GainND
INTS9-
-
-
-
3GainND
IPO11p.Q975*
Nonsense
SNP
0.593
2-ND
IPO5-
-
-
-
3GainND
IQANK1-
-
-
-
3GainND
IQCE-
-
-
-
3GainND
IQUB-
-
-
-
3GainND
IRF5-
-
-
-
3GainND
IRF9p.S359N
Missense
SNP
0.507
2-ND
IRS2-
-
-
-
3GainND
IRX1p.A356T
Missense
SNP
0.526
2-ND
ISL2p.R215Q
Missense
SNP
0.432
2-ND
ISPD-
-
-
-
3GainND
ITGA10p.G880E
Missense
SNP
0.515
2-ND
ITGA9p.R14C
Missense
SNP
0.523
2-ND
ITGB8-
-
-
-
3GainND
ITGBL1-
-
-
-
3GainND
ITM2B-
-
-
-
3GainND
ITPRID1-
-
-
-
3GainND
JAG1p.A336V
Missense
SNP
0.559
2-ND
JAZF1-
-
-
-
3GainND
JPH1-
-
-
-
3GainND
JRK-
-
-
-
3GainND
KAT6A-
-
-
-
3GainND
KATNAL1-
-
-
-
3GainND
KAZNp.R27*
Nonsense
SNP
0.399
2-ND
KBTBD11-
-
-
-
3GainND
KBTBD11-OT1-
-
-
-
3GainND
KBTBD2-
-
-
-
3GainND
KBTBD6-
-
-
-
3GainND
KBTBD7-
-
-
-
3GainND
KCNAB2p.R41Q
Missense
SNP
0.654
2-ND
KCNB2-
-
-
-
3GainND
KCND2-
-
-
-
3GainND
KCNG1p.V268I
Missense
SNP
0.488
2-ND
KCNH2p.A169T
Missense
SNP
0.326
3GainND
KCNJ6p.R46*
Nonsense
SNP
0.485
2-ND
KCNK9-
-
-
-
3GainND
KCNQ3-
-
-
-
3GainND
KCNRG-
-
-
-
3GainND
KCNS2-
-
-
-
3GainND
KCNU1-
-
-
-
3GainND
KCNV1-
-
-
-
3GainND
KCP-
-
-
-
3GainND
KCTD12-
-
-
-
3GainND
KCTD4-
-
-
-
3GainND
KCTD7-
-
-
-
3GainND
KCTD9-
-
-
-
3GainND
KDELC1-
-
-
-
3GainND
KDELR2-
-
-
-
3GainND
KDM6Ap.Y362C
Missense
SNP
0.615
NDNDND
KDM7A-
-
-
-
3GainND
KEL-
-
-
-
3GainND
KHDRBS3-
-
-
-
3GainND
KIAA0368p.A1320V
Missense
SNP
0.459
NDNDND
KIAA0895-
-
-
-
3GainND
KIAA1147-
-
-
-
3GainND
KIAA1324L-
-
-
-
3GainND
KIAA1549p.X1592_splice
Splice_Site
SNP
0.313
3GainND
KIF13B-
-
-
-
3GainND
KIF19p.E573K
Missense
SNP
0.447
2-ND
KIF4Ap.T995A
Missense
SNP
0.279
NDNDND
KIFC2-
-
-
-
3GainND
KL-
-
-
-
3GainND
KLF10-
-
-
-
3GainND
KLF12-
-
-
-
3GainND
KLF14-
-
-
-
3GainND
KLF5-
-
-
-
3GainND
KLHDC10-
-
-
-
3GainND
KLHL1-
-
-
-
4GainND
KLHL34p.P245L
Missense
SNP
0.368
NDNDND
KLHL38p.M414V
Missense
SNP
0.673
3GainND
KLHL7-
-
-
-
3GainND
KLRG2-
-
-
-
3GainND
KMT2C-
-
-
-
3GainND
KMT2E-
-
-
-
3GainND
KPNA3-
-
-
-
3GainND
KPNA7-
-
-
-
3GainND
KRBA1-
-
-
-
3GainND
KRIT1-
-
-
-
3GainND
LACC1-
-
-
-
3GainND
LACTB2-
-
-
-
3GainND
LAMA5p.V425I
Missense
SNP
0.473
2-ND
LAMB1-
-
-
-
3GainND
LAMB4-
-
-
-
3GainND
LAMP1-
-
-
-
3GainND
LAMTOR4-
-
-
-
3GainND
LANCL2-
-
-
-
3GainND
LAPTM4B-
-
-
-
3GainND
LAT2-
-
-
-
3GainND
LATS2-
-
-
-
3GainND
LAYNp.R20W
Missense
SNP
0.390
2-ND
LCKp.T499M
Missense
SNP
0.378
2-ND
LCP1-
-
-
-
3GainND
LDHBp.P183S
Missense
SNP
0.481
2-ND
LEP-
-
-
-
3GainND
LEPROTL1-
-
-
-
3GainND
LETM2-
-
-
-
3GainND
LFNG-
-
-
-
3GainND
LGI2p.C194R
Missense
SNP
0.526
2-ND
LGI3-
-
-
-
3GainND
LHFPL3-
-
-
-
3GainND
LHFPL6-
-
-
-
3GainND
LIG4-
-
-
-
3GainND
LIMK1-
-
-
-
3GainND
LIMK2p.X499_splice
Splice_Site
SNP
0.418
2-ND
LINC01276.
Splice_Site
SNP
1.000
NDNDND
LIPGp.V121I
Missense
SNP
0.534
2-ND
LIPHp.F241S
Missense
SNP
0.579
2-ND
LLCFC1-
-
-
-
3GainND
LMBR1-
-
-
-
3GainND
LMO2p.L112P
Missense
SNP
0.500
2-ND
LMO7-
-
-
-
3GainND
LMOD2-
-
-
-
3GainND
LMTK2-
-
-
-
3GainND
LNX2-
-
-
-
3GainND
LONRF1-
-
-
-
3GainND
LONRF2p.E194K
Missense
SNP
0.508
2-ND
LOXL2-
-
-
-
3GainND
LPAR6-
-
-
-
3GainND
LPIN2p.M743T
Missense
SNP
0.495
2-ND
LPL-
-
-
-
3GainND
LRCH1-
-
-
-
3GainND
LRCH4p.Q264R
Missense
SNP
0.346
3GainND
LRGUK-
-
-
-
3GainND
LRIT3p.A123T
Missense
SNP
0.614
2-ND
LRP1p.R1734H
Missense
SNP
0.480
2-ND
LRP12-
-
-
-
3GainND
LRP1Bp.R3239H
Missense
SNP
0.496
2-ND
LRRC14-
-
-
-
3GainND
LRRC17-
-
-
-
3GainND
LRRC24-
-
-
-
3GainND
LRRC37A-
-
-
-
1LossND
LRRC37A2-
-
-
-
1LossND
LRRC4p.A142T
Missense
SNP
0.327
3GainND
LRRC4Bp.R547W
Missense
SNP
0.527
2-ND
LRRC6-
-
-
-
3GainND
LRRC61-
-
-
-
3GainND
LRRC63-
-
-
-
3GainND
LRRC69-
-
-
-
3GainND
LRRC72-
-
-
-
3GainND
LRRCC1-
-
-
-
3GainND
LRRD1-
-
-
-
3GainND
LRRIQ3-
-
-
-
3GainND
LRRN3-
-
-
-
3GainND
LRRTM4-
-
-
-
3GainND
LRTM2p.R240W
Missense
SNP
0.537
2-ND
LRWD1-
-
-
-
3GainND
LSM1-
-
-
-
3GainND
LSM5-
-
-
-
3GainND
LSM8-
-
-
-
3GainND
LSMEM1-
-
-
-
3GainND
LUC7L2-
-
-
-
3GainND
LUZP6-
-
-
-
3GainND
LY6D-
-
-
-
3GainND
LY6E-
-
-
-
3GainND
LY6H-
-
-
-
3GainND
LY6K-
-
-
-
3GainND
LY6L-
-
-
-
3GainND
LY96-
-
-
-
3GainND
LYN-
-
-
-
3GainND
LYNX1-
-
-
-
3GainND
LYNX1-SLURP2-
-
-
-
3GainND
LYPD2-
-
-
-
3GainND
LYPLA1-
-
-
-
3GainND
LYSTp.L1109I
Missense
SNP
0.527
2-ND
LZTS1-
-
-
-
3GainND
MAB21L1-
-
-
-
3GainND
MACC1-
-
-
-
3GainND
MAD1L1-
-
-
-
3GainND
MAF1-
-
-
-
3GainND
MAFA-
-
-
-
3GainND
MAFK-
-
-
-
3GainND
MAGI2-
-
-
-
3GainND
MAK16-
-
-
-
3GainND
MAL2-
-
-
-
3GainND
MALSU1-
-
-
-
3GainND
MAP1Ap.V2482L
Missense
SNP
0.508
2-ND
MAP2K2p.L46V
Missense
SNP
0.433
2-ND
MAPK15-
-
-
-
3GainND
MAPK8IP1p.A541T
Missense
SNP
0.533
2-ND
MATN2-
-
-
-
3GainND
MAZp.Y433C
Missense
SNP
0.500
2-ND
MBD5p.G514V
Missense
SNP
0.361
2-ND
MBLAC1-
-
-
-
3GainND
MBNL2-
-
-
-
3GainND
MBOAT4-
-
-
-
3GainND
MCF2L-
-
-
-
3GainND
MCM3APp.A544T
Missense
SNP
0.535
2-ND
MCM4-
-
-
-
3GainND
MCM7-
-
-
-
3GainND
MCMDC2-
-
-
-
3GainND
MCPH1-
-
-
-
3GainND
MDFIC-
-
-
-
3GainND
MDH2-
-
-
-
3GainND
MDN1p.A4990V
Missense
SNP
0.469
2-ND
MECP2p.R267Q
Missense
SNP
0.330
NDNDND
MED1p.G1432D
Missense
SNP
0.400
2-ND
MED12Lp.P1720L
Missense
SNP
0.470
2-ND
MED30-
-
-
-
3GainND
MED4-
-
-
-
3GainND
MEDAG-
-
-
-
3GainND
MEF2Cp.G115C
Missense
SNP
0.417
2-ND
MEGF8p.Y2600C
Missense
SNP
0.418
2-ND
MEIS1p.R276H
Missense
SNP
0.534
2-ND
MEOX2-
-
-
-
3GainND
MEPCE-
-
-
-
3GainND
MEST-
-
-
-
3GainND
METp.T230M
Missense
SNP
0.307
3GainND
METTL21C-
-
-
-
3GainND
METTL27-
-
-
-
3GainND
METTL2B-
-
-
-
3GainND
MFHAS1-
-
-
-
3GainND
MFSD3-
-
-
-
3GainND
MFSD5p.V110A
Missense
SNP
0.444
2-ND
MGAM-
-
-
-
3GainND
MGAM2-
-
-
-
3GainND
MICALL2-
-
-
-
3GainND
MICU2-
-
-
-
3GainND
MICU3-
-
-
-
3GainND
MINDY4-
-
-
-
3GainND
MIOS-
-
-
-
3GainND
MIPEP-
-
-
-
3GainND
MKI67p.A403T
Missense
SNP
0.493
2-ND
MKLN1-
-
-
-
3GainND
MKRN1-
-
-
-
3GainND
MLIPp.T107A
Missense
SNP
0.431
2-ND
MLNR-
-
-
-
3GainND
MLXIPL-
-
-
-
3GainND
MMD2-
-
-
-
3GainND
MMP16-
-
-
-
3GainND
MMP23B-
-
-
-
1LossND
MNX1-
-
-
-
3GainND
MOGAT3-
-
-
-
3GainND
MOS-
-
-
-
3GainND
MOSPD3-
-
-
-
3GainND
MPHOSPH8-
-
-
-
3GainND
MPLKIP-
-
-
-
3GainND
MPP6-
-
-
-
3GainND
MRM2-
-
-
-
3GainND
MROH1-
-
-
-
3GainND
MROH2A-
-
-
-
1LossND
MROH5-
-
-
-
3GainND
MROH6-
-
-
-
3GainND
MROH7p.E1205G
Missense
SNP
0.447
2-ND
MRPL13-
-
-
-
3GainND
MRPL15-
-
-
-
3GainND
MRPL32-
-
-
-
3GainND
MRPL57-
-
-
-
3GainND
MRPS17-
-
-
-
3GainND
MRPS24-
-
-
-
3GainND
MRPS28-
-
-
-
3GainND
MRPS31-
-
-
-
3GainND
MRPS33-
-
-
-
3GainND
MSC-
-
-
-
3GainND
MSH6p.R1034Q
Missense
SNP
0.365
2-ND
MSR1-
-
-
-
3GainND
MSRA-
-
-
-
3GainND
MST1p.C576Y
Missense
SNP
0.451
2-ND
MTBP-
-
-
-
3GainND
MTDH-
-
-
-
3GainND
MTERF1-
-
-
-
3GainND
MTERF3-
-
-
-
3GainND
MTFR1-
-
-
-
3GainND
MTIF3-
-
-
-
3GainND
MTMR6-
-
-
-
3GainND
MTMR7-
-
-
-
3GainND
MTMR9-
-
-
-
3GainND
MTORp.A1271T
Missense
SNP
0.506
2-ND
MTPN-
-
-
-
3GainND
MTRF1-
-
-
-
3GainND
MTSS1-
-
-
-
3GainND
MTURN-
-
-
-
3GainND
MTUS1p.M426T
Missense
SNP
0.271
3GainND
MTUS2-
-
-
-
3GainND
MUC12-
-
-
-
3GainND
MUC16p.A9967E
Missense
SNP
0.375
2-ND
MUC17-
-
-
-
3GainND
MUC20p.T621M
Missense
SNP
0.277
2-ND
MUC3A-
-
-
-
3GainND
MYBL1-
-
-
-
3GainND
MYC-
-
-
-
3GainND
MYCBP2-
-
-
-
3GainND
MYL10-
-
-
-
3GainND
MYL7-
-
-
-
3GainND
MYLK2p.R549C
Missense
SNP
0.100
2-ND
MYO10p.A745V
Missense
SNP
0.485
2-ND
MYO16-
-
-
-
3GainND
MYO1G-
-
-
-
3GainND
MYOM2-
-
-
-
3GainND
MZT1-
-
-
-
3GainND
N4BP2L1-
-
-
-
3GainND
N4BP2L2-
-
-
-
3GainND
NAA16-
-
-
-
3GainND
NACAD-
-
-
-
3GainND
NALCNp.R155W
Missense
SNP
0.272
3GainND
NAMPT-
-
-
-
3GainND
NAPEPLD-
-
-
-
3GainND
NAPRT-
-
-
-
3GainND
NAT1-
-
-
-
3GainND
NAT16-
-
-
-
3GainND
NAT2-
-
-
-
3GainND
NAV3p.T1815M
Missense
SNP
0.342
2-ND
NAXD-
-
-
-
3GainND
NBASp.A1339T
Missense
SNP
0.463
2-ND
NBEA-
-
-
-
3GainND
NBN-
-
-
-
3GainND
NBPF19-
-
-
-
1LossND
NBPF9-
-
-
-
1LossND
NCALD-
-
-
-
3GainND
NCAPG2-
-
-
-
3GainND
NCBP1p.D606V
Missense
SNP
0.537
2-ND
NCF1-
-
-
-
3GainND
NCKAP5p.A1096T
Missense
SNP
0.523
2-ND
NCOA2-
-
-
-
3GainND
NCOR2p.I1685T
Missense
SNP
0.403
2-ND
NDFIP2-
-
-
-
3GainND
NDRG1-
-
-
-
3GainND
NDUFA4-
-
-
-
3GainND
NDUFA5-
-
-
-
3GainND
NDUFAF6-
-
-
-
3GainND
NDUFB2-
-
-
-
3GainND
NDUFB9-
-
-
-
3GainND
NECAB1-
-
-
-
3GainND
NECTIN2p.P452S
Missense
SNP
0.484
2-ND
NEFL-
-
-
-
3GainND
NEFM-
-
-
-
3GainND
NEGR1-
-
-
-
3GainND
NEIL2-
-
-
-
3GainND
NEK3-
-
-
-
3GainND
NEK5-
-
-
-
3GainND
NEU3p.G28V
Missense
SNP
0.574
2-ND
NEUROD4p.T78I
Missense
SNP
0.511
2-ND
NEUROD6-
-
-
-
3GainND
NFE2L3-
-
-
-
3GainND
NFE4-
-
-
-
3GainND
NHLRC3-
-
-
-
3GainND
NIM1Kp.T311M
Missense
SNP
0.552
2-ND
NIPAL2-
-
-
-
3GainND
NIPSNAP2-
-
-
-
3GainND
NKAIN3-
-
-
-
3GainND
NKX2-6-
-
-
-
3GainND
NKX3-1-
-
-
-
3GainND
NKX6-3-
-
-
-
3GainND
NME8-
-
-
-
3GainND
NOBOX-
-
-
-
3GainND
NOD1-
-
-
-
3GainND
NOM1-
-
-
-
3GainND
NOS3p.R728W
Missense
SNP
0.385
3GainND
NOV-
-
-
-
3GainND
NPAS2p.X381_splice
Splice_Site
SNP
0.543
2-ND
NPBWR1p.A245T
Missense
SNP
0.279
3GainND
NPBWR2p.A267V
Missense
SNP
0.545
2-ND
NPC1L1-
-
-
-
3GainND
NPM2-
-
-
-
3GainND
NPPBp.S110F
Missense
SNP
0.495
2-ND
NPSR1-
-
-
-
3GainND
NPTX2-
-
-
-
3GainND
NPVF-
-
-
-
3GainND
NPWp.G136A
Missense
SNP
0.387
2-ND
NPY-
-
-
-
3GainND
NRBP2-
-
-
-
3GainND
NRCAM-
-
-
-
3GainND
NRF1-
-
-
-
3GainND
NRG1-
-
-
-
3GainND
NRIP3p.A32V
Missense
SNP
0.505
2-ND
NRROSp.L83P
Missense
SNP
0.553
2-ND
NSD1p.Y1400C
Missense
SNP
0.424
2-ND
NSD3-
-
-
-
3GainND
NSF-
-
-
-
1LossND
NSMAF-
-
-
-
3GainND
NSMCE2-
-
-
-
3GainND
NSUN5-
-
-
-
3GainND
NT5C2p.Y27H
Missense
SNP
0.478
2-ND
NT5C3A-
-
-
-
3GainND
NTHL1p.T171M
Missense
SNP
0.495
2-ND
NTSR2p.R67H
Missense
SNP
0.424
2-ND
NUB1-
-
-
-
3GainND
NUDCD1-
-
-
-
3GainND
NUDCD3-
-
-
-
3GainND
NUDT1-
-
-
-
3GainND
NUDT15-
-
-
-
3GainND
NUDT18-
-
-
-
3GainND
NUFIP1-
-
-
-
3GainND
NUGGC-
-
-
-
3GainND
NUP205-
-
-
-
3GainND
NUP58p.G451V
Missense
SNP
0.319
3GainND
NUPL2-
-
-
-
3GainND
NUPR2-
-
-
-
3GainND
NXF1p.S575T
Missense
SNP
0.506
2-ND
NXPH1-
-
-
-
3GainND
NYAP1-
-
-
-
3GainND
OAS3p.R812*
Nonsense
SNP
0.553
2-ND
OC90-
-
-
-
3GainND
OCM-
-
-
-
3GainND
OCM2-
-
-
-
3GainND
OCRLp.R552C
Missense
SNP
0.642
NDNDND
ODF1-
-
-
-
3GainND
ODF2Lp.L525I
Missense
SNP
0.667
2-ND
OGDH-
-
-
-
3GainND
OLFM4-
-
-
-
3GainND
OPLAH-
-
-
-
3GainND
OPN1SW-
-
-
-
3GainND
OPRK1-
-
-
-
3GainND
OR13A1p.A66T
Missense
SNP
0.436
2-ND
OR13C9p.L103I
Missense
SNP
0.465
2-ND
OR2A1-
-
-
-
3GainND
OR2A12-
-
-
-
3GainND
OR2A14-
-
-
-
3GainND
OR2A2-
-
-
-
3GainND
OR2A25-
-
-
-
3GainND
OR2A42-
-
-
-
3GainND
OR2A5-
-
-
-
3GainND
OR2A7-
-
-
-
3GainND
OR2AE1-
-
-
-
3GainND
OR2F1-
-
-
-
3GainND
OR2F2-
-
-
-
3GainND
OR4K1-
-
-
-
3GainND
OR4K2-
-
-
-
3GainND
OR4K5-
-
-
-
3GainND
OR4M1-
-
-
-
3GainND
OR4N2-
-
-
-
3GainND
OR4Q3-
-
-
-
3GainND
OR52K1p.A190V
Missense
SNP
0.531
2-ND
OR6B1-
-
-
-
3GainND
OR6C74p.A235S
Missense
SNP
0.464
2-ND
OR6V1-
-
-
-
3GainND
OR8H1p.S264T
Missense
SNP
0.500
2-ND
OR9A2-
-
-
-
3GainND
OR9A4-
-
-
-
3GainND
ORAI2-
-
-
-
3GainND
ORC5-
-
-
-
3GainND
OSBPL3p.X773_splice
Splice_Site
SNP
0.273
3GainND
OSGIN2-
-
-
-
3GainND
OSR2-
-
-
-
3GainND
OTOFp.K1306E
Missense
SNP
0.538
2-ND
OTUD6B-
-
-
-
3GainND
OXGR1-
-
-
-
3GainND
OXR1-
-
-
-
3GainND
PABPC1-
-
-
-
3GainND
PABPC3p.R41Q
Missense
SNP
0.355
3GainND
PABPC4L-
-
-
-
3GainND
PAG1-
-
-
-
3GainND
PALMDp.H303R
Missense
SNP
0.461
2-ND
PAN3p.V42I
Missense
SNP
0.329
3GainND
PAPOLB-
-
-
-
3GainND
PARP10-
-
-
-
3GainND
PARP12-
-
-
-
3GainND
PARP4-
-
-
-
3GainND
PAX4-
-
-
-
3GainND
PAXIP1-
-
-
-
3GainND
PBK-
-
-
-
3GainND
PCBP3p.T370M
Missense
SNP
0.527
2-ND
PCCA-
-
-
-
3GainND
PCDH10p.R634C
Missense
SNP
0.479
3GainND
PCDH15p.P1443L
Missense
SNP
0.390
2-ND
PCDH17-
-
-
-
5AmpND
PCDH18-
-
-
-
3GainND
PCDH20-
-
-
-
3GainND
PCDH8-
-
-
-
3GainND
PCDH9-
-
-
-
4GainND
PCDHA10-
-
-
-
1LossND
PCDHA11-
-
-
-
1LossND
PCDHA12-
-
-
-
1LossND
PCDHA13-
-
-
-
1LossND
PCDHA9-
-
-
-
1LossND
PCDHGA1p.A637V
Missense
SNP
0.600
2-ND
PCDHGA6p.A367T
Missense
SNP
0.430
2-ND
PCDHGB4p.S509R
Missense
SNP
0.486
2-ND
PCID2-
-
-
-
3GainND
PCLO-
-
-
-
3GainND
PCM1-
-
-
-
3GainND
PCMTD1-
-
-
-
3GainND
PCOLCE-
-
-
-
3GainND
PCSK1p.A217P
Missense
SNP
0.516
2-ND
PCSK1Np.A68V
Missense
SNP
0.692
NDNDND
PCSK7p.E443A
Missense
SNP
0.518
2-ND
PDAP1-
-
-
-
3GainND
PDE1C-
-
-
-
3GainND
PDE7A-
-
-
-
3GainND
PDE8Ap.L13M
Missense
SNP
0.454
2-ND
PDGFA-
-
-
-
3GainND
PDGFRL-
-
-
-
3GainND
PDIA4-
-
-
-
3GainND
PDK4-
-
-
-
3GainND
PDLIM2-
-
-
-
3GainND
PDP1-
-
-
-
3GainND
PDS5B-
-
-
-
3GainND
PDX1-
-
-
-
3GainND
PEBP4-
-
-
-
3GainND
PEG10-
-
-
-
3GainND
PENK-
-
-
-
3GainND
PER3p.T966A
Missense
SNP
0.413
2-ND
PEX1-
-
-
-
3GainND
PEX2-
-
-
-
3GainND
PGAM2-
-
-
-
3GainND
PGLYRP2p.R558H
Missense
SNP
0.568
2-ND
PHF11-
-
-
-
3GainND
PHF14-
-
-
-
3GainND
PHF20p.R49C
Missense
SNP
0.456
2-ND
PHF20L1-
-
-
-
3GainND
PHF8p.P878S
Missense
SNP
0.665
NDNDND
PHKG1p.A257V
Missense
SNP
0.374
3GainND
PHLPP1p.I823M
Missense
SNP
0.478
2-ND
PHTF2-
-
-
-
3GainND
PHYHIP-
-
-
-
3GainND
PI15-
-
-
-
3GainND
PIBF1-
-
-
-
3GainND
PICALMp.N524K
Missense
SNP
0.556
2-ND
PIGAp.R285H
Missense
SNP
0.686
NDNDND
PIK3CG-
-
-
-
3GainND
PILRA-
-
-
-
3GainND
PILRB-
-
-
-
3GainND
PINX1-
-
-
-
3GainND
PIP-
-
-
-
3GainND
PIP4P2-
-
-
-
3GainND
PITPNM1p.P11S
Missense
SNP
0.499
2-ND
PIWIL2-
-
-
-
3GainND
PIWIL4p.P244S
Missense
SNP
0.551
2-ND
PKD1p.Y1627F
Missense
SNP
0.530
2-ND
PKD1L1-
-
-
-
3GainND
PKHD1L1-
-
-
-
3GainND
PKIA-
-
-
-
3GainND
PLA2G4A-
-
-
-
3GainND
PLAG1-
-
-
-
3GainND
PLAT-
-
-
-
3GainND
PLCB1p.L678V
Missense
SNP
0.516
2-ND
PLEC-
-
-
-
3GainND
PLEKHA2-
-
-
-
3GainND
PLEKHA8-
-
-
-
3GainND
PLEKHF2-
-
-
-
3GainND
PLEKHO1p.E265*
Nonsense
SNP
0.470
2-ND
PLOD3-
-
-
-
3GainND
PLPBP-
-
-
-
3GainND
PLPP5-
-
-
-
3GainND
PLVAPp.K327E
Missense
SNP
0.475
2-ND
PLXNA4-
-
-
-
3GainND
PMP2-
-
-
-
3GainND
PMPCB-
-
-
-
3GainND
PMS2-
-
-
-
3GainND
PNMA2-
-
-
-
3GainND
PNOC-
-
-
-
3GainND
PNPLA8-
-
-
-
3GainND
PODXL-
-
-
-
3GainND
POLB-
-
-
-
3GainND
POLD2-
-
-
-
3GainND
POLM-
-
-
-
3GainND
POLR1D-
-
-
-
3GainND
POLR2Ap.R1059Q
Missense
SNP
0.498
2-ND
POLR2J-
-
-
-
3GainND
POLR2J2-
-
-
-
3GainND
POLR2J3-
-
-
-
3GainND
POLR2K-
-
-
-
3GainND
POLR3D-
-
-
-
3GainND
POLR3Fp.Q49H
Missense
SNP
0.457
2-ND
POM121-
-
-
-
3GainND
POM121C-
-
-
-
3GainND
POM121L12-
-
-
-
3GainND
POMK-
-
-
-
3GainND
POMP-
-
-
-
3GainND
POMZP3-
-
-
-
3GainND
PON1-
-
-
-
3GainND
PON2-
-
-
-
3GainND
PON3-
-
-
-
3GainND
POP1-
-
-
-
3GainND
POP7-
-
-
-
3GainND
POR-
-
-
-
3GainND
POSTN-
-
-
-
3GainND
POT1-
-
-
-
3GainND
POU4F1-
-
-
-
3GainND
POU5F1B-
-
-
-
3GainND
POU6F2-
-
-
-
3GainND
PPDPFL-
-
-
-
3GainND
PPFIA3p.S519A
p.S786I
Missense
Missense
SNP
SNP
0.518
0.603
2-ND
PPIA-
-
-
-
3GainND
PPLp.S1131G
Missense
SNP
0.489
2-ND
PPP1R12Bp.R476Q
Missense
SNP
0.537
2-ND
PPP1R16A-
-
-
-
3GainND
PPP1R17-
-
-
-
3GainND
PPP1R35-
-
-
-
3GainND
PPP1R3A-
-
-
-
3GainND
PPP1R3B-
-
-
-
3GainND
PPP1R42-
-
-
-
3GainND
PPP1R9A-
-
-
-
3GainND
PPP2CB-
-
-
-
3GainND
PPP2R2A-
-
-
-
3GainND
PPP3CC-
-
-
-
3GainND
PRAG1-
-
-
-
3GainND
PRC1p.R517Q
Missense
SNP
0.495
2-ND
PRDM14-
-
-
-
3GainND
PREX2-
-
-
-
3GainND
PRKAA1p.*575Qext*?
Nonstop
SNP
0.381
2-ND
PRKAG2-
-
-
-
3GainND
PRKAR1B-
-
-
-
3GainND
PRKAR2B-
-
-
-
3GainND
PRKCDp.A137V
Missense
SNP
0.477
2-ND
PRKDC-
-
-
-
3GainND
PRKRIP1-
-
-
-
3GainND
PRMT5p.S446L
Missense
SNP
0.610
2-ND
PROSER1-
-
-
-
3GainND
PROZ-
-
-
-
3GainND
PRPF8p.M1622T
Missense
SNP
0.411
2-ND
PRPS1L1-
-
-
-
3GainND
PRR15-
-
-
-
3GainND
PRR23D1-
-
-
-
3GainND
PRR23D2-
-
-
-
3GainND
PRRT4-
-
-
-
3GainND
PRSS1-
-
-
-
3GainND
PRSS2-
-
-
-
3GainND
PRSS37-
-
-
-
3GainND
PRSS55-
-
-
-
3GainND
PRSS58-
-
-
-
3GainND
PRUNE2p.E1676D
Missense
SNP
0.551
2-ND
PSCA-
-
-
-
3GainND
PSD3-
-
-
-
3GainND
PSG1-
-
-
-
1LossND
PSG11-
-
-
-
1LossND
PSG2-
-
-
-
1LossND
PSG3p.D50H
Missense
SNP
0.391
2-ND
PSG4-
-
-
-
1LossND
PSG5-
-
-
-
1LossND
PSG6-
-
-
-
1LossND
PSG7-
-
-
-
1LossND
PSG8-
-
-
-
1LossND
PSKH2-
-
-
-
3GainND
PSMA2-
-
-
-
3GainND
PSMC2-
-
-
-
3GainND
PSMG3-
-
-
-
3GainND
PSPC1-
-
-
-
3GainND
PSPH-
-
-
-
3GainND
PTAR1p.Q323R
Missense
SNP
0.489
2-ND
PTCD1-
-
-
-
3GainND
PTCH1p.P943S
Missense
SNP
0.419
2-ND
PTCHD1p.V367I
Missense
SNP
0.695
NDNDND
PTDSS1-
-
-
-
3GainND
PTGIRp.G180S
Missense
SNP
0.413
2-ND
PTK2-
-
-
-
3GainND
PTK2B-
-
-
-
3GainND
PTN-
-
-
-
3GainND
PTP4A3-
-
-
-
3GainND
PTPAp.G37C
Missense
SNP
0.541
2-ND
PTPN12p.S232R
Missense
SNP
0.270
3GainND
PTPRMp.Q599*
Nonsense
SNP
0.518
2-ND
PTPRN2-
-
-
-
3GainND
PTPRZ1-
-
-
-
3GainND
PTX3p.A96T
Missense
SNP
0.482
2-ND
PUF60-
-
-
-
3GainND
PURB-
-
-
-
3GainND
PURG-
-
-
-
3GainND
PUS7-
-
-
-
3GainND
PVRIG-
-
-
-
3GainND
PWWP2Bp.W504L
Missense
SNP
0.496
2-ND
PXDNL-
-
-
-
3GainND
PYCR3-
-
-
-
3GainND
R3HCC1-
-
-
-
3GainND
RAB11FIP1-
-
-
-
3GainND
RAB19-
-
-
-
3GainND
RAB20-
-
-
-
3GainND
RAB2A-
-
-
-
3GainND
RAB44p.V958M
Missense
SNP
1.000
2-ND
RABGEF1-
-
-
-
3GainND
RAC1-
-
-
-
3GainND
RAD21-
-
-
-
3GainND
RAD54B-
-
-
-
3GainND
RADILp.C588Y
Missense
SNP
0.388
3GainND
RALA-
-
-
-
3GainND
RALYL-
-
-
-
3GainND
RAMP3-
-
-
-
3GainND
RAP1GAP2p.A442T
Missense
SNP
0.536
2-ND
RAP2A-
-
-
-
3GainND
RAPGEF5-
-
-
-
3GainND
RARRES2-
-
-
-
3GainND
RASA3-
-
-
-
3GainND
RASA4-
-
-
-
3GainND
RASA4B-
-
-
-
3GainND
RASL11A-
-
-
-
3GainND
RB1-
-
-
-
3GainND
RB1CC1-
-
-
-
3GainND
RBAK-
-
-
-
3GainND
RBAK-RBAKDN-
-
-
-
3GainND
RBFOX1p.D137G
Missense
SNP
0.502
2-ND
RBM12B-
-
-
-
3GainND
RBM26-
-
-
-
3GainND
RBM28-
-
-
-
3GainND
RBM33-
-
-
-
3GainND
RBM48-
-
-
-
3GainND
RBPMS-
-
-
-
3GainND
RCBTB1-
-
-
-
3GainND
RCBTB2-
-
-
-
3GainND
RCC1L-
-
-
-
3GainND
RDH10-
-
-
-
3GainND
RECQL4-
-
-
-
3GainND
REEP4-
-
-
-
3GainND
RELN-
-
-
-
3GainND
REPIN1-
-
-
-
3GainND
REREp.S32N
Missense
SNP
0.483
2-ND
RFC2-
-
-
-
3GainND
RFC3-
-
-
-
3GainND
RFXAP-
-
-
-
3GainND
RGCC-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGRp.V22M
Missense
SNP
0.300
2-ND
RGS14p.A108V
Missense
SNP
0.570
2-ND
RGS16p.E164K
Missense
SNP
0.538
2-ND
RGS18-
-
-
-
3GainND
RGS20-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
RGS22-
-
-
-
3GainND
RHBDD2-
-
-
-
3GainND
RHEB-
-
-
-
3GainND
RHOBTB2-
-
-
-
3GainND
RHPN1-
-
-
-
3GainND
RIDA-
-
-
-
3GainND
RIF1p.M998T
Missense
SNP
0.431
2-ND
RIMBP2p.K1041N
Missense
SNP
0.525
2-ND
RIMS2-
-
-
-
3GainND
RINT1-
-
-
-
3GainND
RIPK2-
-
-
-
3GainND
RMDN1-
-
-
-
3GainND
RMI1p.G108*
Nonsense
SNP
0.451
2-ND
RNASEH2B-
-
-
-
3GainND
RNF113B-
-
-
-
3GainND
RNF122-
-
-
-
3GainND
RNF133-
-
-
-
3GainND
RNF139-
-
-
-
3GainND
RNF148-
-
-
-
3GainND
RNF157p.R91Q
Missense
SNP
0.457
2-ND
RNF17-
-
-
-
3GainND
RNF170-
-
-
-
3GainND
RNF19A-
-
-
-
3GainND
RNF216-
-
-
-
3GainND
RNF219-
-
-
-
3GainND
RNF32-
-
-
-
3GainND
RNF6-
-
-
-
3GainND
RNPC3p.K437E
Missense
SNP
0.660
2-ND
RP1-
-
-
-
3GainND
RP1L1-
-
-
-
3GainND
RP5-1187M17.10p.R542W
Missense
SNP
0.451
NDNDND
RP5-862P8.2p.T1012I
Missense
SNP
0.441
NDNDND
RP9-
-
-
-
3GainND
RPA3-
-
-
-
3GainND
RPL19p.K181E
Missense
SNP
0.498
2-ND
RPL21-
-
-
-
3GainND
RPL30-
-
-
-
3GainND
RPL7-
-
-
-
3GainND
RPL8-
-
-
-
3GainND
RPS20-
-
-
-
3GainND
RREB1p.S65P
Missense
SNP
1.000
2-ND
RRM2B-
-
-
-
3GainND
RRS1-
-
-
-
3GainND
RSBN1L-
-
-
-
3GainND
RSPH10B-
-
-
-
3GainND
RSPH10B2-
-
-
-
3GainND
RSPO2-
-
-
-
3GainND
RUBCNL-
-
-
-
3GainND
RUFY2p.S256N
Missense
SNP
0.429
2-ND
RUNDC3B-
-
-
-
3GainND
RUNX1T1-
-
-
-
3GainND
RXFP2-
-
-
-
3GainND
RYR2p.R2359Q
Missense
SNP
0.359
2-ND
SACS-
-
-
-
3GainND
SAMD11p.H582R
Missense
SNP
0.605
2-ND
SAMD12-
-
-
-
3GainND
SAMD7p.X29_splice
Splice_Site
SNP
0.495
2-ND
SAMD9-
-
-
-
3GainND
SAMD9L-
-
-
-
3GainND
SAP18-
-
-
-
3GainND
SAP25-
-
-
-
3GainND
SARAF-
-
-
-
3GainND
SBDS-
-
-
-
3GainND
SBSPON-
-
-
-
3GainND
SCAMP3p.P146H
Missense
SNP
0.588
2-ND
SCARA3-
-
-
-
3GainND
SCARA5-
-
-
-
3GainND
SCEL-
-
-
-
3GainND
SCIN-
-
-
-
3GainND
SCN4Ap.R22W
Missense
SNP
0.562
2-ND
SCRIB-
-
-
-
3GainND
SCRN1-
-
-
-
3GainND
SCRT1-
-
-
-
3GainND
SCX-
-
-
-
3GainND
SDC2-
-
-
-
3GainND
SDCBP-
-
-
-
3GainND
SDHAF3-
-
-
-
3GainND
SDK1-
-
-
-
3GainND
SDR16C5-
-
-
-
3GainND
SEC24Dp.V170G
Missense
SNP
0.506
2-ND
SEC61A1p.R223C
Missense
SNP
0.394
2-ND
SEC61G-
-
-
-
3GainND
SEC63p.T153M
Missense
SNP
0.477
2-ND
SECISBP2p.L637F
Missense
SNP
0.534
2-ND
SEM1-
-
-
-
3GainND
SEMA3A-
-
-
-
3GainND
SEMA3C-
-
-
-
3GainND
SEMA3D-
-
-
-
3GainND
SEMA3E-
-
-
-
3GainND
SEMA6Cp.A891P
Missense
SNP
0.415
2-ND
SEPT14-
-
-
-
3GainND
SEPT7-
-
-
-
3GainND
SERP2-
-
-
-
3GainND
SERPINE1-
-
-
-
3GainND
SERPINE3-
-
-
-
3GainND
SERTM1-
-
-
-
3GainND
SETDB2-
-
-
-
3GainND
SFRP1-
-
-
-
3GainND
SFRP4-
-
-
-
3GainND
SFTPC-
-
-
-
3GainND
SGCE-
-
-
-
3GainND
SGCG-
-
-
-
3GainND
SGCZ-
-
-
-
3GainND
SGK3-
-
-
-
3GainND
SH2B2-
-
-
-
3GainND
SH2D4A-
-
-
-
3GainND
SH3TC1p.E702D
Missense
SNP
0.447
2-ND
SHARPIN-
-
-
-
3GainND
SHH-
-
-
-
3GainND
SHISA2-
-
-
-
3GainND
SHROOM4p.R1431W
Missense
SNP
0.332
NDNDND
SHTN1p.E412*
Nonsense
SNP
0.429
2-ND
SIAH3-
-
-
-
3GainND
SKA3-
-
-
-
3GainND
SKAP2-
-
-
-
3GainND
SLA-
-
-
-
3GainND
SLAIN1-
-
-
-
3GainND
SLC10A2-
-
-
-
3GainND
SLC10A5-
-
-
-
3GainND
SLC11A2p.I195V
Missense
SNP
0.446
2-ND
SLC12A9-
-
-
-
3GainND
SLC13A1-
-
-
-
3GainND
SLC13A4-
-
-
-
3GainND
SLC14A1p.R32C
Missense
SNP
0.517
2-ND
SLC15A1-
-
-
-
3GainND
SLC17A1p.G209D
Missense
SNP
0.422
2-ND
SLC18A1-
-
-
-
3GainND
SLC20A2-
-
-
-
3GainND
SLC25A13-
-
-
-
3GainND
SLC25A15p.G165D
Missense
SNP
0.348
3GainND
SLC25A30-
-
-
-
3GainND
SLC25A32-
-
-
-
3GainND
SLC25A37-
-
-
-
3GainND
SLC25A38p.R6G
Missense
SNP
0.397
2-ND
SLC25A40-
-
-
-
3GainND
SLC25A42p.K212E
Missense
SNP
0.446
2-ND
SLC26A3-
-
-
-
3GainND
SLC26A4-
-
-
-
3GainND
SLC26A5-
-
-
-
3GainND
SLC26A7-
-
-
-
3GainND
SLC29A4-
-
-
-
3GainND
SLC30A8-
-
-
-
3GainND
SLC35B4-
-
-
-
3GainND
SLC35E2A-
-
-
-
1LossND
SLC35E2B-
-
-
-
1LossND
SLC35G5-
-
-
-
3GainND
SLC36A1p.A438T
Missense
SNP
0.574
2-ND
SLC37A3-
-
-
-
3GainND
SLC39A14-
-
-
-
3GainND
SLC39A4-
-
-
-
3GainND
SLC45A4-
-
-
-
3GainND
SLC46A3-
-
-
-
3GainND
SLC47A2p.D11N
Missense
SNP
0.537
2-ND
SLC4A2-
-
-
-
3GainND
SLC52A2-
-
-
-
3GainND
SLC7A1-
-
-
-
3GainND
SLC7A13-
-
-
-
3GainND
SLC7A2-
-
-
-
3GainND
SLCO5A1-
-
-
-
3GainND
SLIT1p.A1015T
Missense
SNP
0.549
2-ND
SLITRK1-
-
-
-
4GainND
SLITRK2p.T288I
p.Q371*
Missense
Nonsense
SNP
SNP
0.346
0.266
NDNDND
SLITRK5-
-
-
-
4GainND
SLITRK6-
-
-
-
4GainND
SLURP1-
-
-
-
3GainND
SLURP2-
-
-
-
3GainND
SMAD9-
-
-
-
3GainND
SMARCD3-
-
-
-
3GainND
SMG1p.L2827P
Missense
SNP
0.483
2-ND
SMIM18-
-
-
-
3GainND
SMIM19-
-
-
-
3GainND
SMIM2-
-
-
-
3GainND
SMIM30-
-
-
-
3GainND
SMKR1-
-
-
-
3GainND
SMO-
-
-
-
3GainND
SMOXp.V109M
Missense
SNP
0.511
2-ND
SMURF1-
-
-
-
3GainND
SNAI2-
-
-
-
3GainND
SND1-
-
-
-
3GainND
SNRNP70p.E344D
Missense
SNP
0.427
2-ND
SNRPB2p.F210I
Missense
SNP
0.545
2-ND
SNTB1-
-
-
-
3GainND
SNTG1-
-
-
-
3GainND
SNX10-
-
-
-
3GainND
SNX13-
-
-
-
3GainND
SNX16-
-
-
-
3GainND
SNX31-
-
-
-
3GainND
SNX8-
-
-
-
3GainND
SOHLH2-
-
-
-
3GainND
SORBS3-
-
-
-
3GainND
SORCS1p.X581_splice
Splice_Site
SNP
0.517
2-ND
SOSTDC1-
-
-
-
3GainND
SOX1-
-
-
-
3GainND
SOX11p.R204H
Missense
SNP
0.513
2-ND
SOX17-
-
-
-
3GainND
SOX21-
-
-
-
3GainND
SOX7-
-
-
-
3GainND
SOX9p.R437P
Missense
SNP
0.460
2-ND
SP4-
-
-
-
3GainND
SP8p.R445C
Missense
SNP
0.263
3GainND
SPACA7-
-
-
-
3GainND
SPAG1-
-
-
-
3GainND
SPAG11A-
-
-
-
3GainND
SPAG11B-
-
-
-
3GainND
SPAM1-
-
-
-
3GainND
SPART-
-
-
-
3GainND
SPATA13-
-
-
-
3GainND
SPATA32p.P279H
Missense
SNP
0.460
2-ND
SPATA48-
-
-
-
3GainND
SPATC1-
-
-
-
3GainND
SPDYE3-
-
-
-
3GainND
SPEGp.R689H
Missense
SNP
0.562
2-ND
SPENp.V489I
Missense
SNP
0.505
2-ND
SPERT-
-
-
-
3GainND
SPG20p.W419C
Missense
SNP
0.197
NDNDND
SPHKAPp.E1203K
Missense
SNP
0.518
2-ND
SPIDR-
-
-
-
3GainND
SPRY2-
-
-
-
3GainND
SPRYD7-
-
-
-
3GainND
SQLE-
-
-
-
3GainND
SRGAP2p.V972M
Missense
SNP
0.522
2-ND
SRI-
-
-
-
3GainND
SRLp.R398H
Missense
SNP
0.423
2-ND
SRPK2-
-
-
-
3GainND
SRRM3-
-
-
-
3GainND
SRRM4p.S527Y
Missense
SNP
0.619
2-ND
SRRT-
-
-
-
3GainND
SS18p.R312G
Missense
SNP
0.478
2-ND
SSBP1-
-
-
-
3GainND
SSC4D-
-
-
-
3GainND
SSMEM1-
-
-
-
3GainND
SSPOp.S4617A
Missense
SNP
0.347
3GainND
SSU72P8-
-
-
-
3GainND
ST18p.C121R
Missense
SNP
0.264
3GainND
ST3GAL1-
-
-
-
3GainND
ST7-
-
-
-
3GainND
STAG3-
-
-
-
3GainND
STAR-
-
-
-
3GainND
STARD13-
-
-
-
3GainND
STARD3NL-
-
-
-
3GainND
STAT5Bp.A714T
Missense
SNP
0.514
2-ND
STAU2-
-
-
-
3GainND
STC1-
-
-
-
3GainND
STEAP1-
-
-
-
3GainND
STEAP1B-
-
-
-
3GainND
STEAP2-
-
-
-
3GainND
STEAP4-
-
-
-
3GainND
STK17A-
-
-
-
3GainND
STK19-
-
-
-
1LossND
STK24-
-
-
-
3GainND
STK3-
-
-
-
3GainND
STK31-
-
-
-
3GainND
STMN2-
-
-
-
3GainND
STMN4-
-
-
-
3GainND
STMP1-
-
-
-
3GainND
STOML3-
-
-
-
3GainND
STOX2p.R371Q
Missense
SNP
0.530
2-ND
STPG1p.N252S
Missense
SNP
0.444
2-ND
STRA8-
-
-
-
3GainND
STRIP2-
-
-
-
3GainND
STX1A-
-
-
-
3GainND
STYXL1-
-
-
-
3GainND
SUCLA2-
-
-
-
3GainND
SUGCT-
-
-
-
3GainND
SUGT1-
-
-
-
3GainND
SULF1-
-
-
-
3GainND
SUMF2-
-
-
-
3GainND
SUN1-
-
-
-
3GainND
SUN3-
-
-
-
3GainND
SUPT20H-
-
-
-
3GainND
SVOPL-
-
-
-
3GainND
SYBU-
-
-
-
3GainND
SYPL1-
-
-
-
3GainND
SZT2p.S2439P
Missense
SNP
0.487
2-ND
TAC1-
-
-
-
3GainND
TACC1-
-
-
-
3GainND
TAF2-
-
-
-
3GainND
TAF6-
-
-
-
3GainND
TAS2R16-
-
-
-
3GainND
TAS2R3-
-
-
-
3GainND
TAS2R38-
-
-
-
3GainND
TAS2R39-
-
-
-
3GainND
TAS2R4-
-
-
-
3GainND
TAS2R40-
-
-
-
3GainND
TAS2R41-
-
-
-
3GainND
TAS2R5-
-
-
-
3GainND
TAS2R60-
-
-
-
3GainND
TATDN1-
-
-
-
3GainND
TAX1BP1-
-
-
-
3GainND
TBC1D17p.Q146H
Missense
SNP
0.349
2-ND
TBC1D31-
-
-
-
3GainND
TBC1D4-
-
-
-
3GainND
TBL2-
-
-
-
3GainND
TBRG4-
-
-
-
3GainND
TBX20-
-
-
-
3GainND
TBX21p.R70H
Missense
SNP
0.588
2-ND
TBXAS1-
-
-
-
3GainND
TCAF1-
-
-
-
3GainND
TCAF2-
-
-
-
3GainND
TCEA1-
-
-
-
3GainND
TCF24-
-
-
-
3GainND
TCIM-
-
-
-
3GainND
TDRD3-
-
-
-
3GainND
TDRP-
-
-
-
3GainND
TECPR1-
-
-
-
3GainND
TENM1p.E2439V
Missense
SNP
0.418
NDNDND
TENM4p.G415V
Missense
SNP
0.417
2-ND
TERF1-
-
-
-
3GainND
TERF2IPp.G60V
Missense
SNP
0.474
2-ND
TES-
-
-
-
3GainND
TEX13Cp.G169S
Missense
SNP
0.314
NDNDND
TEX15-
-
-
-
3GainND
TEX26-
-
-
-
3GainND
TEX29-
-
-
-
3GainND
TEX30-
-
-
-
3GainND
TEX47-
-
-
-
3GainND
TFDP1-
-
-
-
3GainND
TFEC-
-
-
-
3GainND
TFPI2-
-
-
-
3GainND
TFR2-
-
-
-
3GainND
TG-
-
-
-
3GainND
TGDS-
-
-
-
3GainND
TGS1-
-
-
-
3GainND
THAP1-
-
-
-
3GainND
THAP5-
-
-
-
3GainND
THAP9p.X194_splice
Splice_Site
SNP
0.471
2-ND
THEM6-
-
-
-
3GainND
THSD1-
-
-
-
3GainND
THSD7A-
-
-
-
3GainND
THSD7Bp.P447T
Missense
SNP
0.547
2-ND
TIGD5-
-
-
-
3GainND
TLR3-
-
-
-
1LossND
TLR9p.R986C
Missense
SNP
0.567
2-ND
TM2D2-
-
-
-
3GainND
TM9SF2-
-
-
-
3GainND
TMC7p.S590P
Missense
SNP
0.514
2-ND
TMCO3-
-
-
-
3GainND
TMED4-
-
-
-
3GainND
TMEM106B-
-
-
-
3GainND
TMEM120A-
-
-
-
3GainND
TMEM130-
-
-
-
3GainND
TMEM139-
-
-
-
3GainND
TMEM140-
-
-
-
3GainND
TMEM151Ap.G412S
Missense
SNP
0.489
2-ND
TMEM168-
-
-
-
3GainND
TMEM176A-
-
-
-
3GainND
TMEM176B-
-
-
-
3GainND
TMEM178Ap.A50V
Missense
SNP
0.454
2-ND
TMEM178B-
-
-
-
3GainND
TMEM184A-
-
-
-
3GainND
TMEM196-
-
-
-
3GainND
TMEM204p.R100H
Missense
SNP
0.525
2-ND
TMEM209-
-
-
-
3GainND
TMEM213-
-
-
-
3GainND
TMEM225B-
-
-
-
3GainND
TMEM229A-
-
-
-
3GainND
TMEM243-
-
-
-
3GainND
TMEM248-
-
-
-
3GainND
TMEM249-
-
-
-
3GainND
TMEM255B-
-
-
-
3GainND
TMEM270-
-
-
-
3GainND
TMEM272-
-
-
-
3GainND
TMEM47p.A89T
Missense
SNP
0.308
NDNDND
TMEM60-
-
-
-
3GainND
TMEM64-
-
-
-
3GainND
TMEM65-
-
-
-
3GainND
TMEM67-
-
-
-
3GainND
TMEM68-
-
-
-
3GainND
TMEM70-
-
-
-
3GainND
TMEM71-
-
-
-
3GainND
TMEM74-
-
-
-
3GainND
TMEM94.
Splice_Site
SNP
0.500
2-ND
TMTC4-
-
-
-
3GainND
TMUB1-
-
-
-
3GainND
TNFRSF10A-
-
-
-
3GainND
TNFRSF10B-
-
-
-
3GainND
TNFRSF10C-
-
-
-
3GainND
TNFRSF10D-
-
-
-
3GainND
TNFRSF11B-
-
-
-
3GainND
TNFRSF19-
-
-
-
3GainND
TNFSF11-
-
-
-
3GainND
TNFSF13B-
-
-
-
3GainND
TNKS-
-
-
-
3GainND
TNPO3-
-
-
-
3GainND
TNRC18-
-
-
-
3GainND
TNS1p.L672S
Missense
SNP
0.545
2-ND
TNS3-
-
-
-
3GainND
TNXB-
-
-
-
1LossND
TOMM7-
-
-
-
3GainND
TONSL-
-
-
-
3GainND
TOP1MT-
-
-
-
3GainND
TOR2Ap.K72N
Missense
SNP
0.455
2-ND
TOX-
-
-
-
3GainND
TP53INP1-
-
-
-
3GainND
TPD52-
-
-
-
3GainND
TPK1-
-
-
-
3GainND
TPOp.L519R
Missense
SNP
0.373
2-ND
TPP2-
-
-
-
3GainND
TPST1-
-
-
-
3GainND
TPT1-
-
-
-
3GainND
TPTE2-
-
-
-
3GainND
TRA2A-
-
-
-
3GainND
TRAM1-
-
-
-
3GainND
TRANK1p.S987R
Missense
SNP
0.544
2-ND
TRAPPC8p.R901*
Nonsense
SNP
0.490
2-ND
TRAPPC9-
-
-
-
3GainND
TRHR-
-
-
-
3GainND
TRIB1-
-
-
-
3GainND
TRIL-
-
-
-
3GainND
TRIM13-
-
-
-
3GainND
TRIM24-
-
-
-
3GainND
TRIM35-
-
-
-
3GainND
TRIM4p.X281_splice
Splice_Site
DNP
0.341
3GainND
TRIM50-
-
-
-
3GainND
TRIM55-
-
-
-
3GainND
TRIM56-
-
-
-
3GainND
TRIM71p.G276S
Missense
SNP
0.458
2-ND
TRIM73-
-
-
-
3GainND
TRIM74-
-
-
-
3GainND
TRIM8p.V512I
Missense
SNP
0.513
2-ND
TRIML2p.P429H
Missense
SNP
0.592
2-ND
TRIP4p.R254*
Nonsense
SNP
0.481
2-ND
TRIP6-
-
-
-
3GainND
TRIQK-
-
-
-
3GainND
TRMT12-
-
-
-
3GainND
TRMT9B-
-
-
-
3GainND
TRPA1-
-
-
-
3GainND
TRPC4-
-
-
-
3GainND
TRPS1p.Y856C
Missense
SNP
0.673
3GainND
TRPV5-
-
-
-
3GainND
TRPV6-
-
-
-
3GainND
TRRAP-
-
-
-
3GainND
TSC22D1-
-
-
-
3GainND
TSC22D4-
-
-
-
3GainND
TSGA13-
-
-
-
3GainND
TSHZ2p.Y18C
Missense
SNP
0.452
2-ND
TSNARE1-
-
-
-
3GainND
TSPAN12-
-
-
-
3GainND
TSPAN13-
-
-
-
3GainND
TSPAN33-
-
-
-
3GainND
TSPYL5-
-
-
-
3GainND
TSSK1Bp.A50T
Missense
SNP
0.500
2-ND
TSTA3-
-
-
-
3GainND
TTC26-
-
-
-
3GainND
TTC3-
-
-
-
1LossND
TTI1p.E583G
Missense
SNP
0.458
2-ND
TTI2-
-
-
-
3GainND
TTNp.H12082N
Missense
SNP
0.567
2-ND
TTPA-
-
-
-
3GainND
TTYH3-
-
-
-
3GainND
TUBA3C-
-
-
-
3GainND
TUBGCP3-
-
-
-
3GainND
TULP4p.P959S
Missense
SNP
0.491
2-ND
TUSC3-
-
-
-
3GainND
TWIST1-
-
-
-
3GainND
TWISTNB-
-
-
-
3GainND
TYW1-
-
-
-
3GainND
TYW1B-
-
-
-
3GainND
UBAC2-
-
-
-
3GainND
UBE2D4-
-
-
-
3GainND
UBE2H-
-
-
-
3GainND
UBE2L5-
-
-
-
3GainND
UBE2V2-
-
-
-
3GainND
UBE2W-
-
-
-
3GainND
UBE3C-
-
-
-
3GainND
UBL3-
-
-
-
3GainND
UBN2-
-
-
-
3GainND
UBR5-
-
-
-
3GainND
UBXN2B-
-
-
-
3GainND
UBXN8-
-
-
-
3GainND
UCHL3-
-
-
-
3GainND
UFM1-
-
-
-
3GainND
UFSP1-
-
-
-
3GainND
UGGT2-
-
-
-
3GainND
UGT1A1-
-
-
-
1LossND
UGT1A10-
-
-
-
1LossND
UGT1A3-
-
-
-
1LossND
UGT1A4-
-
-
-
1LossND
UGT1A5-
-
-
-
1LossND
UGT1A6-
-
-
-
1LossND
UGT1A7-
-
-
-
1LossND
UGT1A8-
-
-
-
1LossND
UGT1A9-
-
-
-
1LossND
UGT2A1-
-
-
-
1LossND
UGT2A2-
-
-
-
1LossND
UGT2A3-
-
-
-
1LossND
UGT2B10-
-
-
-
1LossND
UGT2B11-
-
-
-
1LossND
UGT2B15-
-
-
-
1LossND
UGT2B17-
-
-
-
1LossND
UGT2B28-
-
-
-
1LossND
UGT2B4-
-
-
-
1LossND
UGT2B7-
-
-
-
1LossND
UMAD1-
-
-
-
3GainND
UNC5D-
-
-
-
3GainND
UNCX-
-
-
-
3GainND
UPF3A-
-
-
-
3GainND
UPK3B-
-
-
-
3GainND
UPK3BL1-
-
-
-
3GainND
UPP1-
-
-
-
3GainND
UQCRB-
-
-
-
3GainND
URAD-
-
-
-
3GainND
URGCP-
-
-
-
3GainND
URGCP-MRPS24-
-
-
-
3GainND
USP12-
-
-
-
3GainND
USP17L1-
-
-
-
3GainND
USP17L3-
-
-
-
3GainND
USP17L4-
-
-
-
3GainND
USP17L7-
-
-
-
3GainND
USP17L8-
-
-
-
3GainND
USP36p.S715A
Missense
SNP
0.657
2-ND
USP42-
-
-
-
3GainND
USP47p.R923*
Nonsense
SNP
0.442
2-ND
USP5p.R746W
Missense
SNP
0.582
2-ND
USP51p.L588I
Missense
SNP
0.364
NDNDND
USP6p.T1391M
Missense
SNP
0.367
2-ND
USPL1-
-
-
-
3GainND
UTP14C-
-
-
-
3GainND
UTP23-
-
-
-
3GainND
VCPIP1-
-
-
-
3GainND
VDAC3-
-
-
-
3GainND
VGF-
-
-
-
3GainND
VIPR2-
-
-
-
3GainND
VIRMA-
-
-
-
3GainND
VKORC1L1-
-
-
-
3GainND
VOPP1-
-
-
-
3GainND
VPS13B-
-
-
-
3GainND
VPS28-
-
-
-
3GainND
VPS36-
-
-
-
3GainND
VPS37A-
-
-
-
3GainND
VPS37D-
-
-
-
3GainND
VPS41-
-
-
-
3GainND
VPS50-
-
-
-
3GainND
VSTM2A-
-
-
-
3GainND
VWA8-
-
-
-
3GainND
VWC2-
-
-
-
3GainND
VWDE-
-
-
-
3GainND
VXN-
-
-
-
3GainND
WASF3-
-
-
-
3GainND
WASHC5-
-
-
-
3GainND
WASL-
-
-
-
3GainND
WBP4-
-
-
-
3GainND
WDFY2-
-
-
-
3GainND
WDR3p.L873R
Missense
SNP
0.478
2-ND
WDR36p.R635H
Missense
SNP
0.477
2-ND
WDR60-
-
-
-
3GainND
WDR81p.M1757T
Missense
SNP
0.366
2-ND
WDR86-
-
-
-
3GainND
WDR91-
-
-
-
3GainND
WDR97p.X1008_splice
Splice_Site
SNP
0.358
3GainND
WDYHV1-
-
-
-
3GainND
WEE2-
-
-
-
3GainND
WFIKKN2p.E532G
Missense
SNP
0.396
2-ND
WIPF3-
-
-
-
3GainND
WIPI2-
-
-
-
3GainND
WISP1-
-
-
-
3GainND
WIZp.E38D
Missense
SNP
0.512
2-ND
WLSp.M352T
Missense
SNP
0.478
2-ND
WNT16-
-
-
-
3GainND
WNT2-
-
-
-
3GainND
WRN-
-
-
-
3GainND
WWP1-
-
-
-
3GainND
WWP2p.R34H
Missense
SNP
0.518
2-ND
XKR4-
-
-
-
3GainND
XKR5-
-
-
-
3GainND
XKR6-
-
-
-
3GainND
XKR9-
-
-
-
3GainND
XPO4-
-
-
-
3GainND
XPO7-
-
-
-
3GainND
XRCC2-
-
-
-
3GainND
XRN1p.R1108H
Missense
SNP
0.435
2-ND
YAE1-
-
-
-
3GainND
YKT6-
-
-
-
3GainND
YTHDC1p.L348P
Missense
SNP
0.397
2-ND
YTHDF3-
-
-
-
3GainND
YWHAG-
-
-
-
3GainND
YWHAZ-
-
-
-
3GainND
ZAN-
-
-
-
3GainND
ZAR1L-
-
-
-
3GainND
ZBED6CL-
-
-
-
3GainND
ZBTB10-
-
-
-
3GainND
ZC2HC1A-
-
-
-
3GainND
ZC3H13-
-
-
-
3GainND
ZC3H3-
-
-
-
3GainND
ZC3HAV1-
-
-
-
3GainND
ZC3HAV1L-
-
-
-
3GainND
ZC3HC1-
-
-
-
3GainND
ZCWPW1-
-
-
-
3GainND
ZDHHC2-
-
-
-
3GainND
ZDHHC20-
-
-
-
3GainND
ZDHHC4-
-
-
-
3GainND
ZFAND1-
-
-
-
3GainND
ZFAND2A-
-
-
-
3GainND
ZFAT-
-
-
-
3GainND
ZFHX4p.P469L
p.Y2707H
Missense
Missense
SNP
SNP
0.661
0.638
3GainND
ZFP41-
-
-
-
3GainND
ZFPM2-
-
-
-
3GainND
ZFYVE26p.M2404T
Missense
SNP
0.423
2-ND
ZHX1-
-
-
-
3GainND
ZHX1-C8orf76-
-
-
-
3GainND
ZHX2-
-
-
-
3GainND
ZIC2-
-
-
-
3GainND
ZIC5-
-
-
-
3GainND
ZKSCAN1-
-
-
-
3GainND
ZKSCAN5-
-
-
-
3GainND
ZMAT4-
-
-
-
3GainND
ZMIZ2-
-
-
-
3GainND
ZMYM2p.P806S
Missense
SNP
0.310
3GainND
ZMYM5-
-
-
-
3GainND
ZMYND8p.A406V
Missense
SNP
0.522
2-ND
ZNF107-
-
-
-
3GainND
ZNF117-
-
-
-
3GainND
ZNF12-
-
-
-
3GainND
ZNF138-
-
-
-
3GainND
ZNF142p.H596R
Missense
SNP
0.443
2-ND
ZNF16-
-
-
-
3GainND
ZNF212-
-
-
-
3GainND
ZNF250-
-
-
-
3GainND
ZNF251-
-
-
-
3GainND
ZNF273-
-
-
-
3GainND
ZNF277-
-
-
-
3GainND
ZNF282-
-
-
-
3GainND
ZNF3-
-
-
-
3GainND
ZNF316-
-
-
-
3GainND
ZNF34-
-
-
-
3GainND
ZNF394-
-
-
-
3GainND
ZNF395-
-
-
-
3GainND
ZNF398-
-
-
-
3GainND
ZNF408p.R72C
Missense
SNP
0.427
2-ND
ZNF425-
-
-
-
3GainND
ZNF467-
-
-
-
3GainND
ZNF479p.W252C
Missense
SNP
0.662
3GainND
ZNF490p.R210Q
Missense
SNP
0.487
2-ND
ZNF517-
-
-
-
3GainND
ZNF572-
-
-
-
3GainND
ZNF596-
-
-
-
3GainND
ZNF606p.V23A
Missense
SNP
0.523
2-ND
ZNF623-
-
-
-
3GainND
ZNF655-
-
-
-
3GainND
ZNF679-
-
-
-
3GainND
ZNF680-
-
-
-
3GainND
ZNF696-
-
-
-
3GainND
ZNF7-
-
-
-
3GainND
ZNF703-
-
-
-
3GainND
ZNF704-
-
-
-
3GainND
ZNF706-
-
-
-
3GainND
ZNF707-
-
-
-
3GainND
ZNF713-
-
-
-
3GainND
ZNF716-
-
-
-
3GainND
ZNF727-
-
-
-
3GainND
ZNF735-
-
-
-
3GainND
ZNF736-
-
-
-
3GainND
ZNF746-
-
-
-
3GainND
ZNF775-
-
-
-
3GainND
ZNF777-
-
-
-
3GainND
ZNF781p.T145M
Missense
SNP
0.437
2-ND
ZNF783-
-
-
-
3GainND
ZNF786-
-
-
-
3GainND
ZNF789-
-
-
-
3GainND
ZNF800-
-
-
-
3GainND
ZNF804B-
-
-
-
3GainND
ZNF853-
-
-
-
3GainND
ZNF862-
-
-
-
3GainND
ZNF879p.A37T
Missense
SNP
0.562
2-ND
ZNF92-
-
-
-
3GainND
ZNHIT1-
-
-
-
3GainND
ZNRF2-
-
-
-
3GainND
ZP3-
-
-
-
3GainND
ZPBP-
-
-
-
3GainND
ZSCAN21-
-
-
-
3GainND
ZSCAN25-
-
-
-
3GainND
ZYX-
-
-
-
3GainND