PDMR-188146~221-R~KGTPK8-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2ML1p.Q436*
Nonsense
SNP
0.269
2-ND
A3GALT2p.A286V
Missense
SNP
0.459
2-ND
ABCA4p.A222E
Missense
SNP
0.465
2-ND
ABCA6p.F139S
Missense
SNP
0.510
2-ND
ABCA9p.A679T
Missense
SNP
0.430
2-ND
ABCC4-
-
-
-
3GainND
ABCG5p.V232A
Missense
SNP
0.428
2-ND
ABHD13-
-
-
-
3GainND
ABI3p.A81V
p.E352K
Missense
Missense
SNP
SNP
0.561
0.484
2-ND
ABI3BPp.P915L
Missense
SNP
0.495
2-ND
ABTB1p.E378D
Missense
SNP
0.466
2-ND
ABTB2p.A171T
Missense
SNP
0.531
2-ND
AC001226.2-
-
-
-
3GainND
AC004076.9p.P100H
Missense
SNP
0.539
NDNDND
AC010615.4-
-
-
-
1LossND
AC074143.1-
-
-
-
5AmpND
AC092329.3-
-
-
-
1LossND
AC239799.1-
-
-
-
1LossND
ACACAp.S975N
p.T706A
Missense
Missense
SNP
SNP
0.469
0.477
2-ND
ACEp.E923G
Missense
SNP
0.583
2-ND
ACIN1p.S20N
Missense
SNP
0.436
2-ND
ACOD1-
-
-
-
3GainND
ACOT4p.A146T
Missense
SNP
0.480
2-ND
ACRBPp.G314C
Missense
SNP
0.543
2-ND
ACTN3p.K920N
Missense
SNP
0.451
2-ND
ADALp.D13Y
Missense
SNP
0.500
2-ND
ADAMTS10p.Q780R
Missense
SNP
0.458
2-ND
ADAMTS12p.R556K
Missense
SNP
0.495
2-ND
ADAMTS2p.S720N
Missense
SNP
0.466
2-ND
ADAMTS5p.R68H
Missense
SNP
0.477
2-ND
ADCY1p.D336N
Missense
SNP
0.440
2-ND
ADCY8p.R49C
Missense
SNP
0.598
2-ND
ADCY9p.V985I
Missense
SNP
0.430
2-ND
ADCYAP1p.A125T
Missense
SNP
1.000
2-ND
ADGRB3p.F166L
p.X454_splice
Missense
Splice_Site
SNP
SNP
0.434
0.515
2-ND
ADGRD2p.R76H
Missense
SNP
0.495
2-ND
ADGRL2p.Q165L
Missense
SNP
0.532
2-ND
ADIPOR2p.L115F
Missense
SNP
0.436
2-ND
ADPRHL1-
-
-
-
3GainND
AFTPHp.P747S
Missense
SNP
0.495
2-ND
AGFG2p.G180S
Missense
SNP
0.520
2-ND
AGO2p.A184T
Missense
SNP
0.489
2-ND
AJAP1p.S342R
Missense
SNP
0.446
2-ND
AK5p.E466*
Nonsense
SNP
0.466
2-ND
AKAP10p.A412E
Missense
SNP
0.555
NDNDND
AL445238.1-
-
-
-
5AmpND
AL445989.1-
-
-
-
5AmpND
AL592490.1-
-
-
-
3GainND
ALDH6A1p.A92V
Missense
SNP
0.547
2-ND
ALKp.G761D
Missense
SNP
0.546
2-ND
ALX1p.G120V
Missense
SNP
0.468
2-ND
AMER2p.E312D
Missense
SNP
0.507
2-ND
AMHp.G264C
Missense
SNP
0.456
2-ND
AMIGO1p.N111T
Missense
SNP
0.457
2-ND
AMIGO3p.A62D
Missense
SNP
0.525
2-ND
ANAPC7p.L464S
Missense
SNP
0.443
2-ND
ANGPT1p.N182D
Missense
SNP
0.394
2-ND
ANK2p.A195V
p.M1510I
Missense
Missense
SNP
SNP
0.512
0.517
2-ND
ANKFY1p.T1088M
Missense
SNP
0.474
2-ND
ANKHD1-
-
-
-
1LossND
ANKHD1-EIF4EBP3-
-
-
-
1LossND
ANKIB1p.C160Y
Missense
SNP
0.409
2-ND
ANKRD10-
-
-
-
3GainND
ANKRD24p.R1004H
Missense
SNP
0.518
2-ND
ANKRD34Ap.V13M
Missense
SNP
0.442
2-ND
ANKRD36p.R96S
Missense
SNP
0.466
2-ND
ANKRD53p.P30Q
Missense
SNP
0.471
2-ND
AP2A1p.R516H
Missense
SNP
0.498
2-ND
APOL6p.V216M
Missense
SNP
0.491
2-ND
AQP6p.H184N
Missense
SNP
0.443
2-ND
AQRp.P959Q
Missense
SNP
0.393
2-ND
ARAP2p.S939P
Missense
SNP
0.528
2-ND
ARFGEF1p.T823I
Missense
SNP
0.403
2-ND
ARGLU1-
-
-
-
3GainND
ARHGAP15p.A378V
Missense
SNP
0.379
2-ND
ARHGAP17p.L629M
Missense
SNP
0.528
2-ND
ARHGAP21p.A688D
Missense
SNP
0.493
2-ND
ARHGAP23p.R1327C
Missense
SNP
0.449
2-ND
ARHGAP28p.H293N
Missense
SNP
0.483
2-ND
ARHGAP31p.L715P
Missense
SNP
0.460
2-ND
ARHGAP33p.R1075K
Missense
SNP
0.486
2-ND
ARHGAP35p.L497F
Missense
SNP
0.534
2-ND
ARHGAP6p.W947L
Missense
SNP
0.575
NDNDND
ARHGEF7-
-
-
-
3GainND
ARMCX3p.R102C
Missense
SNP
0.527
NDNDND
ARMCX4p.F2009L
Missense
SNP
0.607
NDNDND
ARRDC5p.C138Y
Missense
SNP
0.444
2-ND
ARSFp.R354Q
Missense
SNP
0.461
NDNDND
ASB2p.T456I
Missense
SNP
0.523
2-ND
ASCC3p.T1755I
Missense
SNP
0.490
2-ND
ASTN1p.A145T
Missense
SNP
0.426
2-ND
ATAD2Bp.M1120I
Missense
SNP
0.484
2-ND
ATCAYp.K176R
Missense
SNP
0.499
2-ND
ATF7IP2p.D223N
Missense
SNP
0.472
2-ND
ATG101p.L200M
Missense
SNP
0.467
2-ND
ATG13p.X483_splice
Splice_Site
SNP
0.519
2-ND
ATG3p.K131N
Missense
SNP
0.468
2-ND
ATG4Bp.A47E
Missense
SNP
0.510
2-ND
ATMp.T2636I
Missense
SNP
0.500
2-ND
ATN1p.S119N
Missense
SNP
0.489
2-ND
ATP11A-
-
-
-
3GainND
ATP13A1p.T401M
Missense
SNP
0.470
2-ND
ATP1A2p.R225H
Missense
SNP
0.465
2-ND
ATP1A3p.X171_splice
Splice_Site
DNP
0.504
2-ND
ATP1A4p.M403I
Missense
SNP
0.465
2-ND
ATP2A2p.T242S
Missense
SNP
0.431
2-ND
ATP4B-
-
-
-
3GainND
ATP5J2-PTCD1p.M26I
Missense
SNP
0.416
NDNDND
ATP7Ap.D609N
Missense
SNP
0.491
NDNDND
ATP7Bp.R166Q
Missense
SNP
0.503
2-ND
ATP8B2p.A1066T
Missense
SNP
0.483
2-ND
ATP9Ap.K404N
Missense
SNP
0.567
2-ND
ATRNp.A6E
Missense
SNP
0.667
2-ND
B3GALT4p.Q135*
Nonsense
SNP
0.528
2-ND
B3GALT5p.P268R
Missense
SNP
0.456
2-ND
B3GNT9p.V234M
Missense
SNP
0.237
5AmpND
BAIAP3p.D1113N
Missense
SNP
0.549
2-ND
BANPp.S445N
Missense
SNP
0.421
2-ND
BCAT2p.S179L
Missense
SNP
0.524
2-ND
BCL11Bp.G655R
Missense
SNP
0.533
2-ND
BCL7Ap.P214Q
Missense
SNP
0.517
2-ND
BCL9Lp.P314L
Missense
SNP
0.557
2-ND
BEX1p.Q74*
Nonsense
SNP
0.427
NDNDND
BICD2p.T391A
Missense
SNP
0.455
2-ND
BIN2p.Q440K
Missense
SNP
0.463
2-ND
BIVM-
-
-
-
3GainND
BIVM-ERCC5-
-
-
-
3GainND
BLOC1S5p.S101N
Missense
SNP
0.391
2-ND
BMPR1Ap.T229I
Missense
SNP
0.479
2-ND
BMPR2p.R213*
Nonsense
SNP
0.428
2-ND
BORAp.A75V
Missense
SNP
0.284
3GainND
BRAFp.V600E
Missense
SNP
0.463
2-ND
BRAT1p.A716G
Missense
SNP
0.449
2-ND
BRCA2p.D2611N
Missense
SNP
0.458
2-ND
BRD8p.L315V
Missense
SNP
0.477
2-ND
BRDTp.G413R
Missense
SNP
0.524
2-ND
BRINP3-
-
-
-
3GainND
BRIX1p.E37K
Missense
SNP
0.446
2-ND
BTBD11p.R228H
Missense
SNP
0.495
2-ND
BYSLp.E128D
Missense
SNP
0.482
2-ND
C10orf54p.M233I
Missense
SNP
0.490
NDNDND
C10orf71p.V258I
Missense
SNP
0.503
2-ND
C11orf21p.P80S
Missense
SNP
0.526
2-ND
C11orf68p.K240M
Missense
SNP
0.545
2-ND
C11orf84p.A32T
Missense
SNP
0.531
NDNDND
C15orf48p.T21N
Missense
SNP
0.407
2-ND
C16orf70-
-
-
-
5AmpND
C17orf53p.S513N
Missense
SNP
0.536
2-ND
C17orf58p.Q57K
Missense
SNP
0.519
2-ND
C19orf52p.A136V
Missense
SNP
0.520
NDNDND
C1orf112p.D594G
Missense
SNP
0.557
2-ND
C1orf167p.R742L
Missense
SNP
0.430
2-ND
C1orf50p.L56I
Missense
SNP
0.439
2-ND
C2p.L241M
Missense
SNP
0.496
2-ND
C20orf24p.Q90H
Missense
SNP
0.455
NDNDND
C2orf80p.S133N
Missense
SNP
0.529
2-ND
C3p.T329I
Missense
SNP
0.562
2-ND
C3AR1p.S74P
Missense
SNP
0.540
2-ND
C3orf22p.Q18R
Missense
SNP
0.463
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C4orf48p.C123Y
Missense
SNP
0.432
2-ND
C8orf48p.R44Q
Missense
SNP
0.465
2-ND
C9orf69p.T66I
Missense
SNP
0.518
NDNDND
C9orf84p.G874R
Missense
SNP
0.656
2-ND
CABIN1p.S1921L
Missense
SNP
0.494
2-ND
CACNA1Bp.P538T
p.V1704L
Missense
Missense
SNP
SNP
0.460
0.453
2-ND
CACNA1Gp.V230I
Missense
SNP
0.483
2-ND
CACNA2D4p.P36L
Missense
SNP
0.449
2-ND
CACNB4p.Y398*
p.Q164*
Nonsense
Nonsense
SNP
SNP
0.532
0.477
2-ND
CADp.W743*
Nonsense
SNP
0.390
2-ND
CADM4p.V247I
Missense
SNP
0.477
2-ND
CALN1p.R232W
Missense
SNP
0.508
2-ND
CAPN6p.G293A
Missense
SNP
0.417
NDNDND
CARMIL2p.D226N
p.A689V
Missense
Missense
SNP
SNP
0.472
0.459
2-ND
CARS2-
-
-
-
3GainND
CASC1p.R62Q
Missense
SNP
0.412
2-ND
CASP10p.L384P
Missense
SNP
0.416
2-ND
CASP8AP2p.V1703I
Missense
SNP
0.476
2-ND
CATSPERGp.S155N
Missense
SNP
0.511
2-ND
CBLp.A221V
Missense
SNP
0.411
2-ND
CCDC102Ap.R31H
Missense
SNP
0.368
2-ND
CCDC142p.R726Q
Missense
SNP
0.442
2-ND
CCDC149p.A300V
Missense
SNP
0.548
2-ND
CCDC168p.T1109I
Missense
SNP
0.213
3GainND
CCDC170p.X197_splice
Splice_Site
SNP
0.525
2-ND
CCDC34p.Q347K
Missense
SNP
0.469
2-ND
CCDC36p.E172D
Missense
SNP
0.431
2-ND
CCDC47p.V241M
Missense
SNP
0.464
2-ND
CCDC60p.H161R
p.E517Q
Missense
Missense
SNP
SNP
0.544
0.547
2-ND
CCKBRp.D254N
Missense
SNP
0.480
2-ND
CCNJLp.L313V
Missense
SNP
0.583
2-ND
CCR5p.T284I
Missense
SNP
0.483
2-ND
CD163p.E764*
Nonsense
SNP
0.526
2-ND
CD276p.A432V
Missense
SNP
0.522
2-ND
CD4p.Q137K
Missense
SNP
0.446
2-ND
CD96p.V505I
Missense
SNP
0.426
2-ND
CDC16-
-
-
-
3GainND
CDC25Bp.L34M
Missense
SNP
0.519
2-ND
CDH12p.E760D
Missense
SNP
0.443
2-ND
CDH22p.T562M
Missense
SNP
0.562
2-ND
CDH23p.R2112*
Nonsense
SNP
0.503
2-ND
CDH6p.W770C
Missense
SNP
0.391
2-ND
CDH7p.R771*
Nonsense
SNP
1.000
2-ND
CDH9-
-
-
-
3GainND
CDKL5p.V192M
Missense
SNP
0.553
NDNDND
CDONp.G393V
Missense
SNP
0.507
2-ND
CEACAM1p.D116E
Missense
SNP
0.475
2-ND
CECR1p.A448S
Missense
SNP
0.382
NDNDND
CENPEp.Q918*
Nonsense
SNP
0.462
2-ND
CFAP74p.P1106Q
Missense
SNP
0.545
2-ND
CFHp.M340T
Missense
SNP
0.559
2-ND
CGNL1p.Q199*
Nonsense
SNP
0.524
2-ND
CHAMP1-
-
-
-
3GainND
CHCHD2p.X149_splice
Splice_Site
SNP
0.553
2-ND
CHD3p.V36E
Missense
SNP
0.484
2-ND
CHD4p.V437I
Missense
SNP
0.451
2-ND
CHD7p.P532T
Missense
SNP
0.450
2-ND
CHD8p.G266W
Missense
SNP
0.511
2-ND
CHRM4p.I410V
Missense
SNP
0.482
2-ND
CHRNB4p.W143*
Nonsense
SNP
0.461
2-ND
CHST7p.P174L
Missense
SNP
0.471
NDNDND
CILP2p.R735H
Missense
SNP
0.523
2-ND
CKAP2-
-
-
-
3GainND
CLASRPp.P287H
Missense
SNP
0.333
2-ND
CLCN2p.G382C
Missense
SNP
0.465
2-ND
CLCN7p.G820D
Missense
SNP
0.503
2-ND
CLDN10-
-
-
-
3GainND
CLDN19p.S217P
Missense
SNP
0.526
2-ND
CLDND2p.*168Rext*?
Nonstop
SNP
0.443
2-ND
CLEC6Ap.E120D
Missense
SNP
0.477
2-ND
CLN5-
-
-
-
3GainND
CLNS1Ap.S50Y
Missense
SNP
0.463
2-ND
CLSTN1p.Q266*
Nonsense
SNP
0.455
2-ND
CLUHp.S1123L
Missense
SNP
0.485
2-ND
CLYBL-
-
-
-
3GainND
CMYA5p.G1579C
Missense
SNP
0.528
2-ND
CNMD-
-
-
-
3GainND
CNNM2p.L378I
Missense
SNP
0.465
2-ND
CNOT10p.P786L
Missense
SNP
0.477
2-ND
CNOT3p.K356R
Missense
SNP
0.587
2-ND
CNTN5p.R245W
Missense
SNP
0.446
2-ND
CNTNAP2-
-
-
-
3GainND
COCHp.A3T
p.G476W
Missense
Missense
SNP
SNP
0.540
0.540
2-ND
COL11A1p.V405L
Missense
SNP
0.448
2-ND
COL11A2p.G300E
Missense
SNP
0.503
2-ND
COL19A1p.K746N
Missense
SNP
0.446
2-ND
COL22A1p.G1576*
Nonsense
SNP
0.320
2-ND
COL24A1p.G561A
Missense
SNP
0.441
2-ND
COL2A1p.P970S
Missense
SNP
0.522
2-ND
COL4A1p.G732R
p.X374_splice
Missense
Splice_Site
SNP
SNP
0.275
0.354
3GainND
COL4A2-
-
-
-
3GainND
COL4A4p.P709H
p.G539R
Missense
Missense
SNP
SNP
0.452
0.439
2-ND
COL5A2p.P685L
Missense
SNP
0.601
2-ND
COL6A1p.A965T
Missense
SNP
0.540
2-ND
COL6A5p.S143L
Missense
SNP
0.512
2-ND
COL6A6p.A889V
Missense
SNP
0.438
2-ND
COL7A1p.T389A
Missense
SNP
0.439
2-ND
COL8A1p.G167W
p.N608H
Missense
Missense
SNP
SNP
0.467
0.454
2-ND
COMMD6-
-
-
-
3GainND
COPAp.H102N
Missense
SNP
0.405
2-ND
COPG1p.A831V
Missense
SNP
0.505
2-ND
COPS2p.R169*
Nonsense
SNP
0.407
2-ND
COQ4p.W143L
Missense
SNP
0.507
2-ND
CPAMD8p.X1699_splice
p.L1496M
Splice_Site
Missense
SNP
SNP
0.462
0.452
2-ND
CPDp.G324D
Missense
SNP
0.497
2-ND
CPNE5p.X46_splice
Splice_Site
SNP
0.527
2-ND
CREB1p.P132L
Missense
SNP
0.565
2-ND
CREB3L1p.A151T
Missense
SNP
0.571
2-ND
CREBBPp.Q2157K
Missense
SNP
0.483
2-ND
CRMP1p.R113H
Missense
SNP
0.574
2-ND
CROCC2p.E1315*
Nonsense
SNP
0.591
2-ND
CRYGAp.R147K
Missense
SNP
0.552
2-ND
CSMD2p.P2199R
Missense
SNP
0.446
2-ND
CSMD3p.A3269V
Missense
SNP
0.426
2-ND
CSNK2A3p.I174M
Missense
SNP
0.462
2-ND
CT83p.G105C
Missense
SNP
0.497
NDNDND
CTNND2p.E72*
Nonsense
SNP
0.544
2-ND
CTPS1p.G451D
Missense
SNP
0.462
2-ND
CTR9p.S1112R
Missense
SNP
0.441
2-ND
CUL4A-
-
-
-
3GainND
CUL9p.H1599Y
Missense
SNP
0.522
2-ND
CYLC1p.K304T
Missense
SNP
0.476
NDNDND
CYP1B1p.V235L
Missense
SNP
0.524
2-ND
CYP21A2-
-
-
-
1LossND
CYP26C1p.R457H
Missense
SNP
0.585
2-ND
CYP3A7p.V71I
Missense
SNP
0.632
2-ND
CYP46A1p.R261H
Missense
SNP
0.623
2-ND
CYP4F22p.R55Q
Missense
SNP
0.528
2-ND
DACH1-
-
-
-
3GainND
DAOA-
-
-
-
3GainND
DARS2p.D393G
Missense
SNP
0.436
2-ND
DAXXp.R391I
p.R328H
Missense
Missense
SNP
SNP
0.468
0.518
2-ND
DBX1p.Q30*
Nonsense
SNP
0.463
2-ND
DCAF1p.A1339T
Missense
SNP
0.562
2-ND
DCAF12L1p.T115A
Missense
SNP
0.458
NDNDND
DCAF8L1p.R122*
Nonsense
SNP
0.546
NDNDND
DCT-
-
-
-
3GainND
DCUN1D2-
-
-
-
3GainND
DCUN1D3p.Q251K
Missense
SNP
0.363
2-ND
DCXp.F338I
p.A152V
Missense
Missense
SNP
SNP
0.504
0.489
NDNDND
DDX4p.R51T
Missense
SNP
0.444
2-ND
DDX53p.Q360K
Missense
SNP
0.441
NDNDND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DENND1Ap.Q898H
Missense
SNP
0.457
2-ND
DENND6Bp.Q56H
Missense
SNP
0.558
2-ND
DERAp.I18T
Missense
SNP
0.539
2-ND
DGKEp.L263F
Missense
SNP
0.479
2-ND
DHODHp.E190D
Missense
SNP
0.504
2-ND
DHX30p.R17C
Missense
SNP
0.454
2-ND
DIAPH3-
-
-
-
3GainND
DICER1p.Q1702H
Missense
SNP
0.463
2-ND
DIEXFp.V116L
Missense
SNP
0.557
NDNDND
DIP2Cp.V834M
Missense
SNP
0.489
2-ND
DIS3-
-
-
-
3GainND
DLG2p.C7F
Missense
SNP
0.612
2-ND
DLG3p.R271C
Missense
SNP
0.435
NDNDND
DLGAP2p.T129M
Missense
SNP
0.469
2-ND
DLGAP3p.R668*
Nonsense
SNP
0.523
2-ND
DLL3p.R302C
Missense
SNP
0.461
2-ND
DLX6p.K165E
Missense
SNP
0.500
2-ND
DMDp.A2533T
Missense
SNP
0.475
NDNDND
DMXL1p.R1676M
Missense
SNP
0.356
2-ND
DMXL2p.F2491L
Missense
SNP
0.495
2-ND
DNAH10p.R41H
Missense
SNP
0.510
2-ND
DNAH3p.L2733P
Missense
SNP
0.468
2-ND
DNAH5p.R1805C
Missense
SNP
0.496
2-ND
DNAH8p.R434P
Missense
SNP
0.455
2-ND
DNAJC17p.X265_splice
p.R157M
Splice_Site
Missense
SNP
SNP
0.504
0.488
2-ND
DNAJC28p.L358F
Missense
SNP
0.487
2-ND
DNAJC3-
-
-
-
3GainND
DNTTIP1p.L207M
Missense
SNP
0.505
2-ND
DOC2Ap.K207Q
Missense
SNP
0.492
2-ND
DOCK5p.E307K
Missense
SNP
0.520
2-ND
DOCK7p.R1547K
Missense
SNP
0.488
2-ND
DOCK9-
-
-
-
3GainND
DOLKp.L171F
Missense
SNP
0.489
2-ND
DOPEY2p.Q1480*
p.L1757P
Nonsense
Missense
SNP
SNP
0.586
0.530
NDNDND
DPCR1p.N983H
Missense
SNP
0.498
NDNDND
DPF3p.G375C
Missense
SNP
0.498
2-ND
DPP3p.L658R
Missense
SNP
0.517
2-ND
DPP9p.A627E
Missense
SNP
0.446
2-ND
DPPA2p.A196D
Missense
SNP
0.483
2-ND
DRAXINp.H139Q
Missense
SNP
0.509
2-ND
DRD3p.S244F
Missense
SNP
0.573
2-ND
DSC2p.C15Y
Missense
SNP
0.508
2-ND
DSCAML1p.R53Q
Missense
SNP
0.145
2-ND
DSPp.A2691G
Missense
SNP
0.494
2-ND
DTLp.Q33H
Missense
SNP
0.460
2-ND
DTX4p.P508H
Missense
SNP
0.543
2-ND
DUOX2p.G1236D
Missense
SNP
0.479
2-ND
DUS3Lp.E504*
Nonsense
SNP
0.443
2-ND
DUSP5p.M307I
Missense
SNP
0.489
2-ND
DYSFp.A1611T
Missense
SNP
0.489
2-ND
DZIP1p.Q438*
Nonsense
SNP
0.328
3GainND
E2F1p.L395P
Missense
SNP
0.533
2-ND
E2F4-
-
-
-
5AmpND
EBF1p.S7N
Missense
SNP
0.525
2-ND
EBF3p.R246C
p.R209W
Missense
Missense
SNP
SNP
0.444
0.480
2-ND
ECM1p.P466L
Missense
SNP
0.470
2-ND
EDAp.P187L
Missense
SNP
0.363
NDNDND
EDNRB-
-
-
-
3GainND
EEF1Gp.C68S
Missense
SNP
0.421
2-ND
EFCAB13p.H6N
Missense
SNP
0.467
2-ND
EFNB2-
-
-
-
3GainND
EFR3Ap.Q529P
Missense
SNP
0.452
2-ND
EGR1p.R336C
Missense
SNP
0.450
2-ND
EHBP1p.R1189H
Missense
SNP
0.559
2-ND
EHMT1p.G325D
Missense
SNP
0.514
2-ND
EIF2Ap.T246S
Missense
SNP
0.427
2-ND
EIF3Hp.T123I
Missense
SNP
0.399
2-ND
EIF4EBP3-
-
-
-
1LossND
ELF2p.A480T
Missense
SNP
0.547
2-ND
ELFN2p.P258H
Missense
SNP
0.477
2-ND
ELL3p.P235S
Missense
SNP
0.543
2-ND
ELMO3-
-
-
-
5AmpND
EML2p.R79P
Missense
SNP
0.460
2-ND
EMSYp.A539V
Missense
SNP
0.514
2-ND
EMX2p.R133H
Missense
SNP
0.530
2-ND
EN1p.G37S
Missense
SNP
0.527
2-ND
ENPP1p.A546T
Missense
SNP
0.498
2-ND
EP400p.R1880W
Missense
SNP
0.494
2-ND
EPHA5p.L450V
Missense
SNP
0.438
2-ND
EPHX3p.G336W
Missense
SNP
0.472
2-ND
EPHX4p.S335T
Missense
SNP
0.505
2-ND
EPPK1-
-
-
-
1LossND
ERCC5-
-
-
-
3GainND
ERFEp.R98S
Missense
SNP
0.518
2-ND
ERO1Ap.P185L
Missense
SNP
0.492
2-ND
ERVMER34-1p.A534T
Missense
SNP
0.431
2-ND
ESPL1p.R664K
Missense
SNP
0.438
2-ND
ETV3Lp.R78H
Missense
SNP
0.560
2-ND
EVA1Ap.V97M
Missense
SNP
0.399
2-ND
EVPLp.Q1208*
Nonsense
SNP
0.502
2-ND
EXO5p.C352Y
Missense
SNP
0.516
2-ND
EXOC3L1-
-
-
-
5AmpND
EXOSC8p.P81H
Missense
SNP
0.512
2-ND
EXTL3p.T35M
Missense
SNP
0.502
2-ND
F10p.A187D
Missense
SNP
0.303
3GainND
F7-
-
-
-
3GainND
FAM111Bp.S112G
Missense
SNP
0.559
2-ND
FAM127Bp.N92Y
Missense
SNP
0.539
NDNDND
FAM149B1p.G80W
Missense
SNP
0.511
2-ND
FAM155A-
-
-
-
3GainND
FAM155Bp.W43*
Nonsense
SNP
0.524
NDNDND
FAM161Bp.Q487*
Nonsense
SNP
0.573
2-ND
FAM171A2p.G229C
Missense
SNP
0.550
2-ND
FAM179Bp.L1487I
Missense
SNP
0.510
NDNDND
FAM198Ap.L356M
Missense
SNP
0.503
2-ND
FAM198Bp.C351Y
Missense
SNP
0.425
2-ND
FAM208Ap.G1073D
Missense
SNP
0.453
2-ND
FAM21Cp.S31I
Missense
SNP
0.422
NDNDND
FAM221Bp.A341T
Missense
SNP
0.505
2-ND
FAM43Bp.R207C
Missense
SNP
0.584
2-ND
FAM65Cp.D287N
Missense
SNP
0.479
NDNDND
FAM71E2p.S316L
Missense
SNP
0.465
2-ND
FAM83Hp.P112S
Missense
SNP
0.500
2-ND
FARP1-
-
-
-
3GainND
FARSBp.X540_splice
Splice_Site
SNP
0.537
2-ND
FAT3p.R4063C
Missense
SNP
0.554
2-ND
FBN1p.G479E
Missense
SNP
0.473
2-ND
FBN2p.Q257H
Missense
SNP
0.515
2-ND
FBXL13p.C489Y
Missense
SNP
0.439
2-ND
FBXL3-
-
-
-
3GainND
FBXL8p.A158T
Missense
SNP
0.729
5AmpND
FBXO31p.P176L
Missense
SNP
0.545
2-ND
FBXO46p.G207C
Missense
SNP
0.528
2-ND
FCGR1A-
-
-
-
1LossND
FCHSD1p.R671C
Missense
SNP
0.449
2-ND
FEM1Cp.S418I
Missense
SNP
0.490
2-ND
FGD1p.G791V
Missense
SNP
0.549
NDNDND
FGF14-
-
-
-
3GainND
FGFR1p.N794D
Missense
SNP
0.436
2-ND
FHL2p.C254Y
Missense
SNP
0.531
2-ND
FHOD1-
-
-
-
5AmpND
FHOD3p.S802N
Missense
SNP
1.000
2-ND
FITM1p.W98*
Nonsense
SNP
0.452
2-ND
FKRPp.A122V
Missense
SNP
0.719
2-ND
FLG2-
-
-
-
3GainND
FLNAp.K620N
Missense
SNP
0.442
NDNDND
FLRT1p.R149C
Missense
SNP
0.480
2-ND
FLRT2-
-
-
-
3GainND
FMO5-
-
-
-
1LossND
FNDC3Bp.N552D
Missense
SNP
0.549
2-ND
FOXA1p.G318V
Missense
SNP
0.504
2-ND
FOXJ1p.Q84E
Missense
SNP
0.533
2-ND
FOXRED2p.R407C
Missense
SNP
0.495
2-ND
FOXS1p.C202Y
Missense
SNP
0.465
2-ND
FPR1p.S215P
Missense
SNP
0.446
2-ND
FRA10AC1p.K262R
Missense
SNP
0.638
2-ND
FRAS1p.E1132K
Missense
SNP
0.384
2-ND
FREM1p.E1344Q
Missense
SNP
0.471
2-ND
FRMD1p.I226T
Missense
SNP
0.511
2-ND
FRMPD3p.G681W
p.T786I
Missense
Missense
SNP
SNP
0.495
0.504
NDNDND
FXR2p.R378M
Missense
SNP
0.446
2-ND
FZD6p.I86T
Missense
SNP
0.473
2-ND
GABRA1p.L221P
Missense
SNP
0.547
2-ND
GABRB1p.A363T
Missense
SNP
0.473
2-ND
GAD1p.R387H
Missense
SNP
0.562
2-ND
GALNT10p.T584N
Missense
SNP
0.471
2-ND
GALNT15p.A263S
Missense
SNP
0.612
2-ND
GALR3p.A236T
Missense
SNP
0.653
2-ND
GAPVD1p.L444I
Missense
SNP
0.525
2-ND
GAREM2p.E350K
Missense
SNP
0.508
2-ND
GAS6-
-
-
-
3GainND
GATA4p.R195W
Missense
SNP
0.390
2-ND
GCNT2p.A325V
Missense
SNP
0.428
2-ND
GDF7p.A337V
Missense
SNP
0.505
2-ND
GGACT-
-
-
-
3GainND
GGT6p.E33K
Missense
SNP
0.545
2-ND
GGT7p.A456V
Missense
SNP
0.525
2-ND
GH2p.E217K
Missense
SNP
0.526
2-ND
GHRp.P307Q
Missense
SNP
0.389
2-ND
GHRHRp.X271_splice
Splice_Site
SNP
0.485
2-ND
GIGYF2p.A581V
Missense
SNP
0.426
2-ND
GIMAP2.
Splice_Site
SNP
0.600
2-ND
GLI1p.A985V
Missense
SNP
0.528
2-ND
GLIS2p.P266T
Missense
SNP
0.524
2-ND
GLUD2p.R519G
Missense
SNP
0.442
NDNDND
GLULp.G251S
Missense
SNP
0.504
2-ND
GNAI2p.A104T
Missense
SNP
0.513
2-ND
GNPATp.F273S
Missense
SNP
0.490
2-ND
GOLGA5p.H211Q
Missense
SNP
0.532
2-ND
GOLGA7Bp.G61R
Missense
SNP
0.484
2-ND
GPBAR1p.A223T
Missense
SNP
0.447
2-ND
GPC5-
-
-
-
4GainND
GPC6-
-
-
-
4GainND
GPR152p.L149F
Missense
SNP
0.570
2-ND
GPR18-
-
-
-
3GainND
GPR180-
-
-
-
3GainND
GPR183p.S332Y
Missense
SNP
0.306
3GainND
GPR20p.G316V
Missense
SNP
0.511
2-ND
GRID2p.R45C
p.N52H
Missense
Missense
SNP
SNP
0.575
0.445
2-ND
GRIN1p.A755V
Missense
SNP
0.497
2-ND
GRIN2Ap.T1164M
Missense
SNP
0.469
2-ND
GRIN2Cp.R1076P
Missense
SNP
0.541
2-ND
GRK1-
-
-
-
3GainND
GRK4p.E574K
Missense
SNP
0.469
2-ND
GRM5p.D849G
Missense
SNP
0.519
2-ND
GRNp.V500L
Missense
SNP
0.515
2-ND
GRTP1-
-
-
-
3GainND
GTPBP1p.Q235R
Missense
SNP
0.561
2-ND
GTPBP2p.L284Q
Missense
SNP
0.484
2-ND
GTPBP3p.R494W
Missense
SNP
0.500
2-ND
H2AFJp.Q105R
Missense
SNP
0.529
2-ND
HABP2p.A214V
Missense
SNP
0.564
2-ND
HADHBp.A290V
Missense
SNP
0.429
2-ND
HAPLN1p.Y301C
Missense
SNP
0.518
2-ND
HARS2p.E431K
Missense
SNP
0.490
2-ND
HBEGFp.P52S
Missense
SNP
0.490
2-ND
HDAC10p.G294S
Missense
SNP
0.498
2-ND
HDAC11p.R287L
Missense
SNP
0.447
2-ND
HDAC4p.Q1032*
Nonsense
SNP
0.506
2-ND
HDAC5p.P664L
Missense
SNP
0.388
2-ND
HDAC9p.L18P
Missense
SNP
0.445
2-ND
HECTD3p.R450S
Missense
SNP
0.573
2-ND
HECW1p.E615A
Missense
SNP
0.528
2-ND
HELZp.A905T
Missense
SNP
0.442
2-ND
HELZ2p.P2168H
Missense
SNP
0.458
2-ND
HEPACAM2p.A84E
Missense
SNP
0.468
2-ND
HERC1p.P3538L
Missense
SNP
0.566
2-ND
HERC2p.R2568*
Nonsense
SNP
0.480
2-ND
HERC3p.S495P
Missense
SNP
0.414
2-ND
HEXAp.G261S
Missense
SNP
0.648
2-ND
HHIPL1p.C87Y
Missense
SNP
0.556
2-ND
HIC2p.L80I
Missense
SNP
0.468
2-ND
HIP1p.R620*
p.K527N
Nonsense
Missense
SNP
SNP
0.461
0.429
2-ND
HIPK3p.A694T
Missense
SNP
0.533
2-ND
HIPK4p.R343H
Missense
SNP
0.511
2-ND
HIRAp.K1017R
Missense
SNP
0.488
2-ND
HIRIP3p.Q225*
Nonsense
SNP
0.459
2-ND
HIST1H1Dp.A69T
Missense
SNP
0.451
2-ND
HIST2H2AA3-
-
-
-
1LossND
HIST2H2AA4-
-
-
-
1LossND
HIST2H2AC-
-
-
-
1LossND
HIST2H2BE-
-
-
-
1LossND
HIST2H2BF-
-
-
-
1LossND
HIST2H3A-
-
-
-
1LossND
HIST2H3C-
-
-
-
1LossND
HIST2H3D-
-
-
-
1LossND
HIST2H3PS2-
-
-
-
1LossND
HIST2H4A-
-
-
-
1LossND
HIST2H4B-
-
-
-
1LossND
HIVEP3p.A1003V
Missense
SNP
0.523
2-ND
HKDC1p.D209E
Missense
SNP
0.436
2-ND
HMCN1p.Q4558H
Missense
SNP
0.580
2-ND
HOOK2p.R279Q
Missense
SNP
0.481
2-ND
HOXA7p.Y6C
Missense
SNP
0.466
2-ND
HPS1p.P323H
Missense
SNP
0.430
2-ND
HS3ST4p.R273C
Missense
SNP
0.514
2-ND
HS6ST3-
-
-
-
3GainND
HSD3B2p.P312L
Missense
SNP
0.395
2-ND
HSF4-
-
-
-
5AmpND
HSPB7p.G69*
p.C35S
Nonsense
Missense
SNP
SNP
0.501
0.492
2-ND
HSPG2p.A3873V
p.C1668F
p.P1449Q
Missense
Missense
Missense
SNP
SNP
SNP
0.471
0.533
0.489
2-ND
IARSp.P351H
Missense
SNP
0.478
2-ND
ID4p.G21R
Missense
SNP
0.500
2-ND
IGDCC4p.L183F
Missense
SNP
0.493
2-ND
IGLV3-22p.E99K
Missense
SNP
0.459
NDNDND
IL10RAp.D544Y
Missense
SNP
0.522
2-ND
IL17RBp.Y443N
Missense
SNP
0.502
2-ND
IL23Ap.C89Y
Missense
SNP
0.477
2-ND
IL4I1p.A48T
Missense
SNP
0.523
2-ND
IL6p.A86T
Missense
SNP
0.455
2-ND
IMMTp.A227S
Missense
SNP
0.341
2-ND
IMPDH2p.A419V
Missense
SNP
0.140
2-ND
INAp.R130Q
Missense
SNP
0.517
2-ND
ING1-
-
-
-
3GainND
INO80p.P1072Q
Missense
SNP
0.577
2-ND
INTS8p.V778M
Missense
SNP
0.439
2-ND
INVSp.G1011V
Missense
SNP
0.481
2-ND
IPO4p.A552V
Missense
SNP
0.521
2-ND
IPO5-
-
-
-
3GainND
IPO7p.R184H
Missense
SNP
0.508
2-ND
IRAK1p.G53R
Missense
SNP
0.477
NDNDND
IRF3p.A441T
Missense
SNP
0.504
2-ND
IRS2-
-
-
-
3GainND
IRX4p.C373Y
Missense
SNP
0.524
2-ND
IRX5p.S387P
Missense
SNP
0.536
2-ND
ITGB7p.L106P
Missense
SNP
0.486
2-ND
ITGBL1-
-
-
-
3GainND
ITPKBp.T576A
Missense
SNP
0.528
2-ND
ITPR1p.R1057H
Missense
SNP
0.467
2-ND
ITPR2p.A68T
Missense
SNP
0.429
2-ND
ITPRIPL1p.P392H
Missense
SNP
0.471
2-ND
IVLp.Q362*
Nonsense
SNP
0.624
2-ND
IWS1p.M355I
Missense
SNP
0.487
2-ND
JADE2p.R416W
Missense
SNP
0.488
2-ND
JAK2p.V1042M
Missense
SNP
0.461
2-ND
KANK2p.A368V
Missense
SNP
0.529
2-ND
KAT5p.R244H
Missense
SNP
0.529
2-ND
KAT8p.E20D
Missense
SNP
0.466
2-ND
KCNA3p.F314I
Missense
SNP
0.495
2-ND
KCNC1p.M414I
Missense
SNP
0.517
2-ND
KCNC3p.G252D
Missense
SNP
0.385
2-ND
KCND2p.R259H
p.S350L
Missense
Missense
SNP
SNP
0.490
0.498
2-ND
KCNG1p.G277C
Missense
SNP
0.414
2-ND
KCNG4p.A140T
Missense
SNP
0.472
2-ND
KCNH2p.A1124G
Missense
SNP
0.435
2-ND
KCNH4p.K641T
Missense
SNP
0.465
2-ND
KCNJ18p.R6G
Missense
SNP
0.554
NDNDND
KCNK3p.Y192*
Nonsense
SNP
0.498
2-ND
KCNQ2p.R210C
Missense
SNP
0.527
2-ND
KCPp.A959V
Missense
SNP
0.530
2-ND
KCTD12-
-
-
-
3GainND
KCTD18p.P347T
Missense
SNP
0.504
2-ND
KCTD19-
-
-
-
5AmpND
KDELC1-
-
-
-
3GainND
KDM2Bp.V569L
Missense
SNP
0.485
2-ND
KDM3Bp.N351S
p.Q757*
Missense
Nonsense
SNP
SNP
0.516
0.444
2-ND
KDM4Bp.E205D
Missense
SNP
0.527
2-ND
KDM5Ap.V176L
Missense
SNP
0.462
2-ND
KDM6Bp.G216S
Missense
SNP
0.520
2-ND
KHSRPp.G669S
Missense
SNP
0.474
2-ND
KIAA0355p.W1020C
Missense
SNP
0.515
2-ND
KIAA0895L-
-
-
-
5AmpND
KIAA1147p.L157I
Missense
SNP
0.463
2-ND
KIAA1217p.E1542K
Missense
SNP
0.479
2-ND
KIAA1549p.R1863Q
p.Q1726K
Missense
Missense
SNP
SNP
0.454
0.464
2-ND
KIAA2022p.V1001I
Missense
SNP
0.502
NDNDND
KIF15p.S21T
p.T80S
Missense
Missense
SNP
SNP
0.441
0.341
2-ND
KIF21Ap.G911D
Missense
SNP
0.454
2-ND
KIF4B-
-
-
-
1LossND
KIFC1p.G127*
Nonsense
SNP
0.417
2-ND
KIR2DS4p.P183S
Missense
SNP
0.503
NDNDND
KLF1p.C286Y
Missense
SNP
0.452
2-ND
KLF12-
-
-
-
3GainND
KLF5-
-
-
-
3GainND
KLF9p.R192H
Missense
SNP
0.495
2-ND
KLHL1-
-
-
-
3GainND
KLHL10p.Y599H
Missense
SNP
0.448
2-ND
KLHL25p.L399M
Missense
SNP
0.518
2-ND
KLHL42p.R382H
Missense
SNP
0.525
2-ND
KLHL9p.A541T
Missense
SNP
0.403
2-ND
KLRC1p.R22*
Nonsense
SNP
0.399
2-ND
KMT2Cp.I4674T
Missense
SNP
0.409
2-ND
KMT2Dp.E3237K
Missense
SNP
0.536
2-ND
KNDC1p.V543I
p.P1056S
Missense
Missense
SNP
SNP
0.506
0.415
2-ND
KRT37p.V291M
Missense
SNP
0.537
2-ND
KRT71p.C93F
Missense
SNP
0.439
2-ND
KRT75p.L221F
Missense
SNP
0.467
2-ND
KRT9p.V253M
Missense
SNP
0.451
2-ND
KRTAP1-1-
-
-
-
1LossND
KRTAP1-3-
-
-
-
1LossND
KRTAP1-5-
-
-
-
1LossND
KRTAP10-1-
-
-
-
1LossND
KRTAP10-10-
-
-
-
1LossND
KRTAP10-11-
-
-
-
1LossND
KRTAP10-2-
-
-
-
1LossND
KRTAP10-3-
-
-
-
1LossND
KRTAP10-4-
-
-
-
1LossND
KRTAP10-5-
-
-
-
1LossND
KRTAP10-6-
-
-
-
1LossND
KRTAP10-7-
-
-
-
1LossND
KRTAP10-8-
-
-
-
1LossND
KRTAP10-9-
-
-
-
1LossND
KRTAP12-4-
-
-
-
1LossND
KRTAP3-1-
-
-
-
1LossND
KRTAP3-2-
-
-
-
1LossND
KRTAP3-3-
-
-
-
1LossND
KRTAP4-1-
-
-
-
1LossND
KRTAP4-11-
-
-
-
1LossND
KRTAP4-12-
-
-
-
1LossND
KRTAP4-16-
-
-
-
1LossND
KRTAP4-2-
-
-
-
1LossND
KRTAP4-3-
-
-
-
1LossND
KRTAP4-4-
-
-
-
1LossND
KRTAP4-6-
-
-
-
1LossND
KRTAP4-7-
-
-
-
1LossND
KRTAP4-8-
-
-
-
1LossND
KRTAP4-9-
-
-
-
1LossND
KRTAP9-1-
-
-
-
1LossND
KRTAP9-2-
-
-
-
1LossND
KRTAP9-3-
-
-
-
1LossND
KRTAP9-4-
-
-
-
1LossND
KRTAP9-7-
-
-
-
1LossND
KRTAP9-8-
-
-
-
1LossND
KRTAP9-9-
-
-
-
1LossND
KYp.S250F
Missense
SNP
0.485
2-ND
KYAT1p.F28L
Missense
SNP
0.390
2-ND
LAMP1-
-
-
-
3GainND
LARGE1p.R526C
Missense
SNP
0.490
2-ND
LARP1Bp.D764Y
Missense
SNP
0.537
2-ND
LARP4p.V375L
Missense
SNP
0.402
2-ND
LARS2p.H145N
Missense
SNP
0.533
2-ND
LCMT2p.T459N
Missense
SNP
0.493
2-ND
LCORp.S967R
Missense
SNP
0.506
2-ND
LCP1p.K97N
Missense
SNP
0.464
2-ND
LENG8p.P543L
Missense
SNP
0.402
2-ND
LGI2p.T338M
Missense
SNP
0.552
2-ND
LGSNp.G427R
Missense
SNP
0.452
2-ND
LHCGRp.S171Y
Missense
SNP
0.471
2-ND
LHX5p.V401M
Missense
SNP
0.467
2-ND
LIG4-
-
-
-
3GainND
LILRA5p.H208N
Missense
SNP
0.532
2-ND
LINGO3p.A265V
p.A39T
Missense
Missense
SNP
SNP
0.523
0.576
2-ND
LITAFp.S60L
Missense
SNP
0.488
2-ND
LMO7-
-
-
-
3GainND
LOXL1p.P312T
Missense
SNP
0.538
2-ND
LPAR2p.V207G
Missense
SNP
0.459
2-ND
LRCH1p.P136H
Missense
SNP
0.480
2-ND
LRFN1p.P401L
Missense
SNP
0.531
2-ND
LRFN5p.R253H
Missense
SNP
0.448
NDNDND
LRP1Bp.A2762V
Missense
SNP
0.522
2-ND
LRP2p.D1293E
Missense
SNP
0.447
2-ND
LRP4p.R886*
Nonsense
SNP
0.456
2-ND
LRRC15p.L215F
Missense
SNP
0.494
2-ND
LRRC29-
-
-
-
5AmpND
LRRC52p.G222V
Missense
SNP
0.203
2-ND
LRRTM2p.S189G
Missense
SNP
0.480
2-ND
LRWD1p.S253L
Missense
SNP
0.518
2-ND
LSAMPp.R52W
Missense
SNP
0.489
2-ND
LSM10p.Q25K
Missense
SNP
0.487
2-ND
LSM4p.G116D
Missense
SNP
0.536
2-ND
LTBP2p.H1316N
Missense
SNP
0.441
2-ND
MAGEE1p.R11C
Missense
SNP
0.581
NDNDND
MAMDC4p.H590N
Missense
SNP
0.463
2-ND
MAP2K5p.S133N
Missense
SNP
0.507
2-ND
MAP3K4p.L1433M
Missense
SNP
0.455
2-ND
MAP7D1p.E2K
p.H697Y
Missense
Missense
SNP
SNP
0.475
0.487
2-ND
MATN1p.L402I
p.V149F
Missense
Missense
SNP
SNP
0.489
0.531
2-ND
MATN4p.A564S
Missense
SNP
0.515
2-ND
MBNL2-
-
-
-
3GainND
MC5Rp.C131Y
Missense
SNP
0.582
2-ND
MCAMp.L94F
Missense
SNP
0.489
2-ND
MCF2L-
-
-
-
3GainND
MCHR2p.D192G
Missense
SNP
0.507
2-ND
MCM5p.R724C
Missense
SNP
0.535
2-ND
MEGF10p.P256L
Missense
SNP
0.484
2-ND
MELKp.C339Y
Missense
SNP
0.408
2-ND
MESP2p.D38Y
Missense
SNP
0.487
2-ND
METTL21C-
-
-
-
3GainND
MFFp.S223F
Missense
SNP
0.561
2-ND
MFSD4Bp.Q123H
Missense
SNP
0.522
2-ND
MGAT5p.H627N
Missense
SNP
0.430
2-ND
MICAL1p.Q538K
Missense
SNP
0.456
2-ND
MICAL3p.S1444T
p.A826T
Missense
Missense
SNP
SNP
0.486
0.450
2-ND
MICU2p.V401A
Missense
SNP
0.562
2-ND
MIER3p.V418L
Missense
SNP
0.460
2-ND
MIPEPp.R24Q
Missense
SNP
0.536
2-ND
MLKLp.X241_splice
Splice_Site
SNP
0.505
2-ND
MLLT6p.Q916K
p.G918D
Missense
Missense
SNP
SNP
0.500
0.506
2-ND
MMP16p.V562M
Missense
SNP
0.458
2-ND
MOGSp.G181R
Missense
SNP
0.552
2-ND
MON1B.
Splice_Site
SNP
0.514
2-ND
MORC2p.R608H
Missense
SNP
0.490
2-ND
MOSPD2p.D220G
Missense
SNP
0.436
NDNDND
MPP2p.R201H
Missense
SNP
0.537
2-ND
MPRIPp.C103*
Nonsense
SNP
0.533
NDNDND
MRC1p.S815N
p.I1394S
Missense
Missense
SNP
SNP
0.398
0.380
2-ND
MRPL22-
-
-
-
1LossND
MRPL32p.A15T
Missense
SNP
0.472
2-ND
MSANTD3p.Q209H
Missense
SNP
0.424
2-ND
MSH2p.A609D
Missense
SNP
0.480
2-ND
MTCL1p.M1276I
Missense
SNP
0.461
2-ND
MTDHp.P241T
Missense
SNP
0.576
2-ND
MTFR1Lp.H88N
Missense
SNP
0.510
2-ND
MTMR4p.D1069G
Missense
SNP
0.451
2-ND
MTTPp.S822T
Missense
SNP
0.559
2-ND
MTUS2p.C603Y
Missense
SNP
0.507
2-ND
MUC12p.Q5326H
Missense
SNP
0.467
2-ND
MUC16p.T13507R
p.P5244Q
p.S634Y
Missense
Missense
Missense
SNP
SNP
SNP
0.523
0.430
0.491
2-ND
MUC17p.S1612L
Missense
SNP
0.473
2-ND
MUC5ACp.K488N
Missense
SNP
0.392
2-ND
MUC5Bp.I4778N
p.V5146I
Missense
Missense
SNP
SNP
0.460
0.460
2-ND
MX2p.G111D
Missense
SNP
0.466
2-ND
MYBPC2p.V575I
Missense
SNP
0.483
2-ND
MYCBP2-
-
-
-
3GainND
MYH11p.T1019M
Missense
SNP
0.516
2-ND
MYO10p.A745V
Missense
SNP
0.512
2-ND
MYO16-
-
-
-
3GainND
MYO18Bp.K1334N
Missense
SNP
0.593
2-ND
MYO1Ap.H975Y
Missense
SNP
0.416
2-ND
MYO1Hp.S468N
Missense
SNP
0.426
2-ND
MYO5Bp.A1759V
Missense
SNP
1.000
2-ND
MYO9Bp.A1054E
p.S2049L
Missense
Missense
SNP
SNP
0.404
0.431
2-ND
MYOCDp.E879K
Missense
SNP
0.460
2-ND
MYOD1p.S289N
Missense
SNP
0.479
2-ND
MYOFp.P1364H
Missense
SNP
0.447
2-ND
MYRFp.C396Y
Missense
SNP
0.504
2-ND
MZF1p.R391H
Missense
SNP
0.448
2-ND
MZT1-
-
-
-
3GainND
N4BP1p.Q803H
Missense
SNP
0.505
2-ND
NALCN-
-
-
-
3GainND
NAP1L1p.A322V
Missense
SNP
0.527
2-ND
NAP1L3p.V414M
Missense
SNP
0.481
NDNDND
NAP1L5p.M176V
Missense
SNP
0.505
2-ND
NAT8p.A2V
Missense
SNP
0.421
2-ND
NAXD-
-
-
-
3GainND
NBEAL2p.M568V
Missense
SNP
0.493
2-ND
NBPF10-
-
-
-
1LossND
NBPF12-
-
-
-
1LossND
NBPF15-
-
-
-
1LossND
NBPF19-
-
-
-
1LossND
NBPF20-
-
-
-
1LossND
NBPF9-
-
-
-
1LossND
NCAM2p.D834N
Missense
SNP
0.521
2-ND
NCOR1p.D1579N
Missense
SNP
0.390
2-ND
NDFIP2-
-
-
-
3GainND
NDUFA10p.A196T
Missense
SNP
0.437
2-ND
NDUFAB1p.Q49*
Nonsense
SNP
0.508
2-ND
NEBp.A1083V
Missense
SNP
0.457
2-ND
NEGR1-
-
-
-
3GainND
NEK3-
-
-
-
3GainND
NEK5p.P682L
Missense
SNP
0.346
3GainND
NFAT5p.T1011I
Missense
SNP
0.478
2-ND
NFRKBp.S353L
Missense
SNP
0.483
2-ND
NHSp.A736T
p.R1561*
Missense
Nonsense
SNP
SNP
0.485
0.486
NDNDND
NINLp.V228I
Missense
SNP
0.441
2-ND
NIPBLp.X1809_splice
Splice_Site
SNP
0.548
2-ND
NKX2-1p.P307L
Missense
SNP
0.421
2-ND
NKX2-5p.Q22P
Missense
SNP
0.438
2-ND
NKX3-2p.A277T
Missense
SNP
0.472
2-ND
NLRX1p.R9K
p.G971E
Missense
Missense
SNP
SNP
0.452
0.493
2-ND
NOBOXp.R315C
Missense
SNP
0.450
2-ND
NOL3-
-
-
-
5AmpND
NOL6p.T838I
Missense
SNP
0.471
2-ND
NOTCH1p.D909N
Missense
SNP
0.423
2-ND
NOTCH2NLA-
-
-
-
1LossND
NOVA2p.A100V
Missense
SNP
0.479
2-ND
NPHP4p.V1007M
Missense
SNP
0.464
2-ND
NPR1p.G537S
Missense
SNP
0.491
2-ND
NPTNp.N284K
Missense
SNP
0.607
2-ND
NPTX1p.T71I
Missense
SNP
0.417
2-ND
NR4A1p.G512S
Missense
SNP
0.501
2-ND
NR4A2p.F489L
Missense
SNP
0.462
2-ND
NR4A3p.P274S
Missense
SNP
0.598
2-ND
NR5A2p.T25M
Missense
SNP
0.491
2-ND
NRROSp.C9F
Missense
SNP
0.479
2-ND
NRXN1p.Q692*
Nonsense
SNP
0.532
2-ND
NRXN2p.L1347M
Missense
SNP
0.495
2-ND
NSD1p.K1271N
Missense
SNP
0.385
2-ND
NT5C1Bp.S445T
Missense
SNP
0.384
2-ND
NUCB2p.D93N
Missense
SNP
0.455
2-ND
NUP153p.V584F
p.N109D
Missense
Missense
SNP
SNP
0.552
0.512
2-ND
NUP188p.L333P
Missense
SNP
0.487
2-ND
OBSCNp.G5102C
p.X5386_splice
Missense
Splice_Site
SNP
SNP
0.297
0.470
2-ND
OBSL1p.R1538K
Missense
SNP
0.535
2-ND
OCA2p.V490A
p.T387M
Missense
Missense
SNP
SNP
0.431
0.523
2-ND
OGDHLp.L833M
Missense
SNP
0.520
2-ND
OLFM4-
-
-
-
3GainND
OPN5p.K252E
Missense
SNP
0.489
2-ND
OPRL1p.R368W
Missense
SNP
0.540
2-ND
OR10C1p.S192L
Missense
SNP
0.431
2-ND
OR12D3p.V200I
Missense
SNP
0.497
2-ND
OR13J1p.T74M
Missense
SNP
0.526
2-ND
OR2AJ1p.A117V
Missense
SNP
0.491
2-ND
OR52E5p.A192V
Missense
SNP
0.509
2-ND
OR56A5p.P272L
Missense
SNP
0.469
2-ND
OR5B17p.S201L
Missense
SNP
0.488
2-ND
OSTM1p.T6I
Missense
SNP
0.531
2-ND
OTOFp.T286I
Missense
SNP
0.468
2-ND
OTOP3p.A7S
Missense
SNP
0.459
2-ND
OXGR1-
-
-
-
3GainND
P3H1p.A166T
Missense
SNP
0.437
2-ND
PABPC5p.G178D
Missense
SNP
0.473
NDNDND
PABPN1Lp.G44C
Missense
SNP
0.519
2-ND
PADI1p.D260Y
Missense
SNP
0.511
2-ND
PAMp.Q513K
Missense
SNP
0.364
2-ND
PAPPA2p.D597N
p.G1549S
Missense
Missense
SNP
SNP
0.471
0.465
2-ND
PARD3p.G600S
p.L464F
Missense
Missense
SNP
SNP
0.463
0.465
2-ND
PARD6Ap.S205N
Missense
SNP
0.545
2-ND
PARP12p.S382N
Missense
SNP
0.481
2-ND
PAX4p.C317Y
Missense
SNP
0.485
2-ND
PCCA-
-
-
-
3GainND
PCDH17p.G177S
p.T423M
p.A593T
p.A745T
p.E746K
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.314
0.288
0.349
0.333
0.327
5AmpND
PCDH20-
-
-
-
3GainND
PCDH8p.L455M
Missense
SNP
0.311
3GainND
PCDH9-
-
-
-
5AmpND
PCDHA11p.D237N
Missense
SNP
0.518
2-ND
PCDHA6p.T662M
Missense
SNP
0.466
2-ND
PCDHA7p.A519T
Missense
SNP
0.529
2-ND
PCDHA8p.R415H
Missense
SNP
0.552
2-ND
PCDHB2p.S36P
Missense
SNP
0.521
2-ND
PCDHB4p.I311N
Missense
SNP
0.576
2-ND
PCDHGA10p.G16R
Missense
SNP
0.619
2-ND
PCDHGA9p.S618W
Missense
SNP
0.465
2-ND
PCDHGB6p.A516V
Missense
SNP
0.522
2-ND
PCDHGB7p.I319V
Missense
SNP
0.488
2-ND
PCED1Bp.R90C
Missense
SNP
0.504
2-ND
PCID2-
-
-
-
3GainND
PCNAp.L47V
Missense
SNP
0.491
2-ND
PCNX2p.C874F
Missense
SNP
0.458
2-ND
PDCD4p.L9P
Missense
SNP
0.418
2-ND
PDE1Cp.L313P
Missense
SNP
0.479
2-ND
PDE3Bp.Q646H
Missense
SNP
0.396
2-ND
PDE4Dp.A272T
Missense
SNP
0.490
2-ND
PDS5Ap.P946T
Missense
SNP
0.513
2-ND
PDS5Bp.A1053S
p.S1319T
Missense
Missense
SNP
SNP
0.400
0.496
2-ND
PDX1p.R278W
Missense
SNP
0.528
2-ND
PEBP1p.E126K
Missense
SNP
0.500
2-ND
PEG3p.L700F
Missense
SNP
0.466
2-ND
PELI2p.A173T
Missense
SNP
0.465
2-ND
PENKp.D225N
Missense
SNP
0.492
2-ND
PER1p.R846K
Missense
SNP
0.411
2-ND
PET117p.G22D
Missense
SNP
0.507
2-ND
PGLYRP2p.R319Q
Missense
SNP
0.484
2-ND
PIBF1-
-
-
-
3GainND
PIEZO2p.X1480_splice
Splice_Site
SNP
1.000
2-ND
PIGZp.L550M
Missense
SNP
1.000
2-ND
PIK3C3p.E876D
Missense
SNP
0.450
2-ND
PIK3R6p.P161L
Missense
SNP
0.460
2-ND
PIM3p.R59H
Missense
SNP
0.403
2-ND
PITPNM1p.D289N
Missense
SNP
0.450
2-ND
PITX1p.G299C
Missense
SNP
0.488
2-ND
PJA1p.Q47K
Missense
SNP
0.467
NDNDND
PKD1L3p.E1139*
Nonsense
SNP
0.661
2-ND
PKN3p.G269R
Missense
SNP
0.484
2-ND
PKNOX2p.Q327P
Missense
SNP
0.440
2-ND
PLA2G4A-
-
-
-
3GainND
PLA2G4Dp.Q793K
Missense
SNP
0.547
2-ND
PLB1p.V1420F
Missense
SNP
0.457
2-ND
PLCL1p.C740F
Missense
SNP
0.422
2-ND
PLCZ1p.L219I
Missense
SNP
0.458
2-ND
PLEKHA2p.S22N
Missense
SNP
0.444
2-ND
PLEKHA6p.G211C
Missense
SNP
0.484
2-ND
PLEKHG1p.R688M
Missense
SNP
0.426
2-ND
PLEKHG4p.R929*
Nonsense
SNP
0.644
5AmpND
PLPP2p.P7T
Missense
SNP
0.486
2-ND
PLPPR5p.T23M
Missense
SNP
0.467
2-ND
PLXNB2p.T1726M
Missense
SNP
0.540
2-ND
PLXNB3p.A886S
Missense
SNP
0.556
NDNDND
PLXND1p.L1208F
Missense
SNP
0.481
2-ND
PNMA1p.S194F
Missense
SNP
0.459
2-ND
POGLUT1p.G3V
Missense
SNP
0.581
2-ND
POLA1p.V1169A
Missense
SNP
0.467
NDNDND
POLD1p.T473M
Missense
SNP
0.527
2-ND
POLG2p.K83N
Missense
SNP
0.461
2-ND
POMGNT2p.G358W
Missense
SNP
0.501
2-ND
POMKp.Q4H
Missense
SNP
0.557
2-ND
POU4F1-
-
-
-
3GainND
POU5F1Bp.P53Q
Missense
SNP
0.600
2-ND
PPM1Ep.H275N
Missense
SNP
0.482
2-ND
PPP1R10p.P661Q
Missense
SNP
0.465
2-ND
PPP1R13Lp.A745T
Missense
SNP
0.513
2-ND
PPP1R9Ap.V403M
Missense
SNP
0.470
2-ND
PPRC1p.P604H
Missense
SNP
0.497
2-ND
PRAMEF12p.P38Q
Missense
SNP
0.485
2-ND
PRCPp.C364Y
Missense
SNP
0.416
2-ND
PRDM12p.H323Y
Missense
SNP
0.512
2-ND
PRDM13p.E174Q
Missense
SNP
0.503
2-ND
PRDM15p.G381C
Missense
SNP
0.527
2-ND
PRICKLE2p.E721V
Missense
SNP
0.445
2-ND
PRKAB2-
-
-
-
1LossND
PRKCBp.G351C
Missense
SNP
0.500
2-ND
PRKCHp.V485I
Missense
SNP
0.478
2-ND
PRKD3p.Y437C
Missense
SNP
0.477
2-ND
PROB1p.P697L
Missense
SNP
0.495
2-ND
PROM1p.A772T
p.Q22H
Missense
Missense
SNP
SNP
0.506
0.430
2-ND
PROZ-
-
-
-
3GainND
PRPF6p.V434M
p.R503H
Missense
Missense
SNP
SNP
0.451
0.467
2-ND
PRPHp.A255T
Missense
SNP
0.512
2-ND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRRC2Cp.K1712R
Missense
SNP
0.367
2-ND
PRRG3p.R19C
Missense
SNP
0.492
NDNDND
PRRT4p.R669H
Missense
SNP
0.433
2-ND
PRSS21p.D237Y
Missense
SNP
0.463
2-ND
PRTGp.E398A
Missense
SNP
0.506
2-ND
PSMB8p.P20Q
Missense
SNP
0.451
2-ND
PSPC1p.R290H
Missense
SNP
0.459
2-ND
PSTPIP1p.Y287C
Missense
SNP
0.426
2-ND
PTK7p.G816W
Missense
SNP
0.471
2-ND
PTPRCAPp.R94Q
Missense
SNP
0.497
2-ND
PTPRN2p.G479V
Missense
SNP
0.597
2-ND
PTPRTp.Y912C
Missense
SNP
0.410
2-ND
PTPRUp.G994D
Missense
SNP
0.487
2-ND
PVRIGp.R217Q
Missense
SNP
0.420
2-ND
PWP1p.P58H
Missense
SNP
0.532
2-ND
PWWP2Ap.G396S
Missense
SNP
0.402
2-ND
PXKp.H340N
Missense
SNP
0.392
2-ND
PYGLp.F327I
Missense
SNP
0.464
2-ND
PZPp.V1354M
Missense
SNP
0.492
2-ND
RAB17p.R6K
Missense
SNP
0.506
2-ND
RAB20-
-
-
-
3GainND
RAB36p.G46C
Missense
SNP
0.536
2-ND
RAB42p.G101S
Missense
SNP
0.544
2-ND
RAD50p.E1029G
Missense
SNP
0.618
2-ND
RAG1p.A824S
Missense
SNP
0.433
2-ND
RAI1p.S1059F
Missense
SNP
0.432
NDNDND
RANBP3p.A525V
Missense
SNP
0.528
2-ND
RAP2A-
-
-
-
3GainND
RARGp.D340Y
Missense
SNP
0.506
2-ND
RASA3-
-
-
-
3GainND
RASAL1p.C134F
Missense
SNP
0.503
2-ND
RASL10Bp.A194V
Missense
SNP
0.431
2-ND
RASSF4p.R154H
Missense
SNP
0.536
2-ND
RBM14p.X601_splice
Splice_Site
SNP
0.383
2-ND
RBM26-
-
-
-
3GainND
RCBTB2p.M223I
Missense
SNP
0.475
2-ND
RDXp.S243N
Missense
SNP
0.530
2-ND
RECQL4p.Q277*
Nonsense
SNP
0.482
2-ND
REEP2p.A130V
Missense
SNP
0.490
2-ND
REEP3p.R8I
Missense
SNP
0.516
2-ND
RFC1p.N888K
Missense
SNP
0.388
2-ND
RFX5p.P288H
Missense
SNP
0.458
2-ND
RGL2p.P220H
Missense
SNP
0.550
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS11p.S331G
Missense
SNP
0.534
2-ND
RGS12p.P13H
Missense
SNP
0.573
2-ND
RGS20p.M360I
Missense
SNP
0.494
2-ND
RHOBTB1p.A512V
Missense
SNP
0.526
2-ND
RHOT2p.V145L
Missense
SNP
0.451
2-ND
RIC1p.S634T
Missense
SNP
0.458
2-ND
RIMBP2p.R341H
Missense
SNP
0.484
2-ND
RIMS2p.A16T
Missense
SNP
0.418
2-ND
RIMS3p.R293C
Missense
SNP
0.528
2-ND
RLIMp.G504S
Missense
SNP
0.514
NDNDND
RNASELp.H263Y
Missense
SNP
0.456
2-ND
RNF113B-
-
-
-
3GainND
RNF139p.H413D
Missense
SNP
0.479
2-ND
RNF151p.P13L
p.R175C
Missense
Missense
SNP
SNP
0.441
0.507
2-ND
RNF20p.V266I
Missense
SNP
0.523
2-ND
RNF219-
-
-
-
3GainND
RNF26p.C383Y
Missense
SNP
0.531
2-ND
RNF40p.A337S
Missense
SNP
0.445
2-ND
ROR1p.P809S
Missense
SNP
0.455
2-ND
RP11-350O14.18p.Q33R
Missense
SNP
0.571
NDNDND
RPGRIP1p.V1211L
Missense
SNP
0.534
2-ND
RPL24p.X2_splice
Splice_Site
SNP
0.439
2-ND
RPS6KA1p.R735L
Missense
SNP
0.481
2-ND
RPS6KC1p.G244R
Missense
SNP
0.442
2-ND
RRM1p.E586D
Missense
SNP
0.491
2-ND
RRP12p.A873T
Missense
SNP
0.500
2-ND
RYR2p.R1086Q
p.D4112N
Missense
Missense
SNP
SNP
0.465
0.519
2-ND
SACSp.G2041D
Missense
SNP
0.463
2-ND
SAE1p.E97*
Nonsense
SNP
0.571
2-ND
SAFBp.G104R
Missense
SNP
0.498
2-ND
SALL2p.Q206K
p.S20G
Missense
Missense
SNP
SNP
0.465
0.459
2-ND
SAMD9Lp.P165Q
Missense
SNP
0.478
2-ND
SARS2p.L376F
Missense
SNP
0.461
2-ND
SATB2p.R46K
Missense
SNP
0.500
2-ND
SC5Dp.A83E
Missense
SNP
0.486
2-ND
SCEL-
-
-
-
3GainND
SCG5p.R181T
Missense
SNP
0.543
2-ND
SCGB2A2p.A110D
Missense
SNP
0.424
2-ND
SCGNp.X211_splice
Splice_Site
SNP
0.471
2-ND
SCN10Ap.F1567S
Missense
SNP
0.474
2-ND
SCN4Ap.C1209F
Missense
SNP
0.509
2-ND
SCN8Ap.T1938I
Missense
SNP
0.507
2-ND
SCN9Ap.Q1896K
Missense
SNP
0.484
2-ND
SCUBE1p.D74E
Missense
SNP
0.447
2-ND
SDK1p.A1809V
Missense
SNP
0.432
2-ND
SEC16Bp.G488D
Missense
SNP
0.463
2-ND
SEL1Lp.Y493C
Missense
SNP
0.500
2-ND
SEL1L3p.P241H
Missense
SNP
0.454
2-ND
SEMA3Bp.H368Y
Missense
SNP
0.389
2-ND
SEMA3Cp.R684M
Missense
SNP
0.455
2-ND
SEMA3Ep.C602F
Missense
SNP
0.422
2-ND
SEMA6Bp.X330_splice
Splice_Site
SNP
0.455
2-ND
SEMA7Ap.N595I
Missense
SNP
0.472
2-ND
SEPT3p.R280Q
Missense
SNP
0.510
2-ND
SERINC2p.C35Y
Missense
SNP
0.486
2-ND
SERINC5p.A278T
Missense
SNP
0.448
2-ND
SERPINA1p.A86T
Missense
SNP
0.491
2-ND
SERPINA12p.V308A
Missense
SNP
0.530
2-ND
SERPINE2p.N166D
Missense
SNP
0.576
2-ND
SETD1Bp.R902W
Missense
SNP
0.511
2-ND
SFMBT2p.R691W
Missense
SNP
0.525
2-ND
SFPQp.D517N
Missense
SNP
0.343
2-ND
SFSWAPp.S282G
Missense
SNP
0.495
2-ND
SGCBp.R223C
Missense
SNP
0.505
2-ND
SGK1p.C68*
Nonsense
SNP
0.468
2-ND
SGK494p.W195*
Nonsense
SNP
0.526
2-ND
SH3BP2p.Y568H
Missense
SNP
0.442
2-ND
SH3GL2p.K12E
Missense
SNP
0.464
2-ND
SHANK3p.R1598W
Missense
SNP
0.453
2-ND
SHISA3p.L10I
Missense
SNP
0.520
2-ND
SIAEp.G185S
Missense
SNP
0.446
2-ND
SIGLEC11p.A571V
Missense
SNP
0.493
2-ND
SIGLEC14p.K291N
Missense
SNP
0.276
2-ND
SIM2p.H655Y
Missense
SNP
0.588
2-ND
SIX5p.E45A
Missense
SNP
0.532
2-ND
SKOR2p.R459G
Missense
SNP
0.529
2-ND
SLAIN1-
-
-
-
3GainND
SLAMF8p.R51*
Nonsense
SNP
0.502
2-ND
SLC10A2-
-
-
-
3GainND
SLC10A7p.L92P
Missense
SNP
0.494
2-ND
SLC11A2p.A348T
Missense
SNP
0.452
2-ND
SLC15A1-
-
-
-
3GainND
SLC18B1p.T165R
Missense
SNP
0.563
2-ND
SLC1A1p.R93C
Missense
SNP
0.429
2-ND
SLC22A25p.X429_splice
Splice_Site
SNP
0.436
2-ND
SLC27A6p.L448M
Missense
SNP
0.517
2-ND
SLC29A2p.H379N
Missense
SNP
0.500
2-ND
SLC29A3p.R299H
Missense
SNP
0.520
2-ND
SLC35A1p.A108T
Missense
SNP
0.420
2-ND
SLC38A7p.R365W
Missense
SNP
0.488
1LossND
SLC39A11p.A299V
Missense
SNP
0.444
2-ND
SLC43A3p.G243C
Missense
SNP
0.436
2-ND
SLC4A3p.S453I
Missense
SNP
0.524
2-ND
SLC9A5-
-
-
-
5AmpND
SLC9A7p.T684M
Missense
SNP
0.466
NDNDND
SLIT1p.G1156S
Missense
SNP
0.508
2-ND
SLIT2p.I527N
Missense
SNP
0.532
2-ND
SLIT3p.E1315D
Missense
SNP
0.211
2-ND
SLITRK1-
-
-
-
4GainND
SLITRK2p.T494M
Missense
SNP
0.494
NDNDND
SLITRK5-
-
-
-
4GainND
SLITRK6-
-
-
-
4GainND
SNRNP200p.W1275L
Missense
SNP
0.367
2-ND
SNTG1p.S47C
Missense
SNP
0.484
2-ND
SOBPp.N423K
Missense
SNP
0.512
2-ND
SOGA3p.R435C
Missense
SNP
0.487
2-ND
SORL1p.X508_splice
Splice_Site
SNP
0.449
2-ND
SOX1-
-
-
-
3GainND
SOX21-
-
-
-
3GainND
SP1p.T503K
Missense
SNP
0.430
2-ND
SP5p.A183P
Missense
SNP
0.439
2-ND
SP6p.R211H
Missense
SNP
0.507
2-ND
SPACA7-
-
-
-
3GainND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPAG9p.N575T
Missense
SNP
0.583
2-ND
SPATA13p.P25T
Missense
SNP
0.602
2-ND
SPATA31E1p.C641F
p.L790F
Missense
Missense
SNP
SNP
0.556
0.492
2-ND
SPATA9p.R119K
Missense
SNP
0.437
2-ND
SPATC1p.V473I
Missense
SNP
0.538
2-ND
SPERTp.L175P
Missense
SNP
0.460
2-ND
SPG11p.C2224Y
Missense
SNP
0.430
2-ND
SPINK5p.X95_splice
Splice_Site
SNP
0.470
2-ND
SPNS1p.A291P
Missense
SNP
0.498
2-ND
SPP2p.M10T
Missense
SNP
0.528
2-ND
SPPL2Bp.T542I
Missense
SNP
0.485
2-ND
SPPL2Cp.A235E
Missense
SNP
0.505
2-ND
SPRY2-
-
-
-
3GainND
SPRYD7p.R156*
Nonsense
SNP
0.372
2-ND
SPTAN1p.E112K
Missense
SNP
0.528
2-ND
SPTBp.V445L
Missense
SNP
0.520
2-ND
SPTBN5p.L3107I
p.A245T
Missense
Missense
SNP
SNP
0.477
0.473
2-ND
SRA1-
-
-
-
1LossND
SRGAP2B-
-
-
-
1LossND
SRP72p.A650T
Missense
SNP
0.453
2-ND
SSC5Dp.R946K
Missense
SNP
0.449
2-ND
ST6GALNAC4p.D39N
Missense
SNP
0.523
2-ND
STAMBPp.E314*
Nonsense
SNP
0.536
2-ND
STARD13p.G429D
Missense
SNP
0.420
2-ND
STARD9p.S1600F
Missense
SNP
0.470
2-ND
STAT2p.E730K
Missense
SNP
0.536
2-ND
STAT5Ap.Y682H
Missense
SNP
0.470
2-ND
STC1p.A110T
Missense
SNP
0.506
2-ND
STK19-
-
-
-
1LossND
STK24-
-
-
-
3GainND
STMND1p.K242T
Missense
SNP
0.433
2-ND
STRADAp.R194M
Missense
SNP
0.365
2-ND
STRNp.P380H
Missense
SNP
0.486
2-ND
STYXp.I32F
Missense
SNP
0.430
2-ND
SUGT1-
-
-
-
3GainND
SUPT16Hp.V425A
Missense
SNP
0.379
2-ND
SUPT20Hp.Q730H
Missense
SNP
0.470
2-ND
SUSD6p.L146P
Missense
SNP
0.521
2-ND
SYN3p.L59F
Missense
SNP
0.509
2-ND
SYNE1p.Q7399R
p.G531E
Missense
Missense
SNP
SNP
0.547
0.485
2-ND
SYNE2p.P3923H
Missense
SNP
0.379
2-ND
SYNJ1p.V1386I
Missense
SNP
0.450
2-ND
SYNJ2p.R1090H
Missense
SNP
0.392
2-ND
SYNPOp.S41N
Missense
SNP
0.529
2-ND
SYT1p.K214N
Missense
SNP
0.352
2-ND
SYT17p.P363Q
Missense
SNP
0.515
2-ND
SZT2p.G422R
Missense
SNP
0.635
2-ND
TAF2p.V816A
Missense
SNP
0.477
2-ND
TANC2p.L1146F
Missense
SNP
0.463
2-ND
TANGO6p.A6T
Missense
SNP
0.525
2-ND
TAOK1p.R971W
Missense
SNP
0.502
2-ND
TAOK2p.R936K
Missense
SNP
0.498
2-ND
TAPBPp.L124P
Missense
SNP
0.481
2-ND
TAZp.K135T
Missense
SNP
0.436
NDNDND
TBC1D22Ap.D376N
Missense
SNP
0.459
2-ND
TBC1D31p.Q63*
Nonsense
SNP
0.475
2-ND
TBC1D4p.S5R
Missense
SNP
0.361
3GainND
TBCDp.A146T
Missense
SNP
0.448
2-ND
TBCKp.V537M
Missense
SNP
0.476
2-ND
TBX10p.L9F
Missense
SNP
0.480
2-ND
TBX18p.M606K
Missense
SNP
0.507
2-ND
TBX6p.H352Y
Missense
SNP
0.548
2-ND
TCF4p.Q508*
Nonsense
SNP
0.545
2-ND
TDRD3-
-
-
-
3GainND
TENM3p.R22C
Missense
SNP
0.484
2-ND
TESK2p.P548Q
Missense
SNP
0.556
2-ND
TESMINp.E2*
Nonsense
SNP
0.500
2-ND
TEX14p.I154N
Missense
SNP
0.429
2-ND
TEX29-
-
-
-
3GainND
TEX30-
-
-
-
3GainND
TEX38p.L8V
Missense
SNP
0.452
2-ND
TFDP1-
-
-
-
3GainND
TGDS-
-
-
-
3GainND
TGFBR2p.R553H
Missense
SNP
0.505
2-ND
THG1Lp.T115N
Missense
SNP
0.464
2-ND
THSD1-
-
-
-
3GainND
TIAM1p.G484E
Missense
SNP
0.558
2-ND
TINAGp.C284Y
Missense
SNP
0.490
2-ND
TINF2p.A77T
Missense
SNP
0.519
2-ND
TJP1p.R201Q
Missense
SNP
0.370
2-ND
TKTL2p.R475Q
Missense
SNP
0.517
2-ND
TLCD1p.P236T
Missense
SNP
0.415
2-ND
TLDC1p.R7H
Missense
SNP
0.508
2-ND
TLR6p.S436P
Missense
SNP
0.557
2-ND
TM4SF18p.R4G
Missense
SNP
0.487
2-ND
TM9SF2-
-
-
-
3GainND
TM9SF3p.L89S
Missense
SNP
0.483
2-ND
TMCO3-
-
-
-
3GainND
TMEM116p.A56T
Missense
SNP
0.537
2-ND
TMEM132Bp.G839C
Missense
SNP
0.429
2-ND
TMEM134p.I156T
Missense
SNP
0.457
2-ND
TMEM136p.C46Y
Missense
SNP
0.465
2-ND
TMEM178Ap.P72L
Missense
SNP
0.521
2-ND
TMEM200Cp.P490L
p.R364H
Missense
Missense
SNP
SNP
0.468
1.000
2-ND
TMEM208-
-
-
-
5AmpND
TMEM236p.R180K
Missense
SNP
0.455
2-ND
TMEM255B-
-
-
-
3GainND
TMEM47p.A167V
Missense
SNP
0.459
NDNDND
TMEM52p.R128W
Missense
SNP
0.475
2-ND
TMEM59Lp.L12P
Missense
SNP
0.545
2-ND
TMPRSS11Fp.G187*
Nonsense
SNP
0.493
2-ND
TMTC4p.Q390R
Missense
SNP
0.287
3GainND
TNCp.R2033C
p.E365A
Missense
Missense
SNP
SNP
0.503
0.473
2-ND
TNFRSF9p.A10T
Missense
SNP
0.387
2-ND
TNFSF13B-
-
-
-
3GainND
TNK2p.R129K
Missense
SNP
0.471
2-ND
TNRp.I51V
Missense
SNP
0.506
2-ND
TNS3p.E1287G
Missense
SNP
0.567
2-ND
TNS4p.A525V
Missense
SNP
0.446
2-ND
TNXBp.G641V
Missense
SNP
0.445
1LossND
TOP1p.E272G
Missense
SNP
0.500
2-ND
TOR2Ap.D247G
Missense
SNP
0.481
2-ND
TP53I11p.T123M
Missense
SNP
0.500
2-ND
TP63p.M307I
Missense
SNP
0.995
2-ND
TPBGLp.P129L
Missense
SNP
0.534
2-ND
TPP2-
-
-
-
3GainND
TPRp.R724C
Missense
SNP
0.333
2-ND
TRABD2Bp.E401D
Missense
SNP
0.345
2-ND
TRADDp.D306V
Missense
SNP
0.249
5AmpND
TRAF2p.F56L
Missense
SNP
0.662
2-ND
TRAK2p.A603V
Missense
SNP
0.554
2-ND
TRAPPC2Bp.S4G
Missense
SNP
0.500
2-ND
TRIM10p.L174F
Missense
SNP
0.476
2-ND
TRIM32p.G383V
Missense
SNP
0.463
2-ND
TRIM33p.C233Y
Missense
SNP
0.577
2-ND
TRIM42p.W709L
Missense
SNP
0.436
2-ND
TRIP12p.S1039N
Missense
SNP
0.475
2-ND
TRMT10Cp.S273P
Missense
SNP
0.483
2-ND
TRMT6p.R395G
Missense
SNP
0.541
2-ND
TRMT61Bp.P344L
Missense
SNP
0.479
2-ND
TRPM1p.L440M
Missense
SNP
0.467
2-ND
TSFMp.V168L
Missense
SNP
0.402
2-ND
TTC21Bp.M588V
Missense
SNP
0.637
2-ND
TTC24p.X347_splice
Splice_Site
SNP
0.471
2-ND
TTC28p.R2474T
p.G2049C
p.S1279N
Missense
Missense
Missense
SNP
SNP
SNP
0.500
0.439
0.439
2-ND
TTC34p.R407K
Missense
SNP
0.493
2-ND
TTC39Ap.T477M
Missense
SNP
0.456
2-ND
TTC6p.A195T
Missense
SNP
0.526
2-ND
TTLL11p.V496F
Missense
SNP
0.468
2-ND
TTLL3p.R498H
Missense
SNP
0.516
2-ND
TTNp.W32421*
p.D25164N
p.D19698Y
p.H8370Y
Nonsense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.526
0.495
0.519
0.554
2-ND
TUBGCP2p.P918A
Missense
SNP
0.507
2-ND
TUBGCP3-
-
-
-
3GainND
TULP4p.Q1273*
Nonsense
SNP
0.417
2-ND
TYK2p.V1048M
Missense
SNP
0.464
2-ND
UBAC2-
-
-
-
3GainND
UBE3Cp.G6S
p.P674S
Missense
Missense
SNP
SNP
0.410
0.500
2-ND
UBR3p.L586F
Missense
SNP
0.512
2-ND
UBR4p.G2929*
Nonsense
SNP
0.496
2-ND
UCHL3-
-
-
-
3GainND
UCK1p.S11N
Missense
SNP
0.478
2-ND
UGGT2-
-
-
-
3GainND
UGT2B11p.A162V
Missense
SNP
0.483
2-ND
UGT3A1p.P451L
Missense
SNP
0.470
2-ND
UHRF1BP1Lp.G1208V
Missense
SNP
0.442
2-ND
UPF3A-
-
-
-
3GainND
USB1p.H149N
Missense
SNP
0.551
2-ND
USH2Ap.Q4402K
Missense
SNP
0.504
2-ND
USP17L1-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP28p.R141C
Missense
SNP
0.512
2-ND
USP36p.N398I
Missense
SNP
0.500
2-ND
USP6p.R398W
Missense
SNP
0.439
2-ND
USP9Xp.M877I
Missense
SNP
0.532
NDNDND
UTS2Rp.L299M
Missense
SNP
0.492
2-ND
UVSSAp.Q84K
Missense
SNP
0.495
2-ND
VCPIP1p.Q645*
Nonsense
SNP
0.526
2-ND
VEGFCp.G35E
Missense
SNP
0.460
2-ND
VGLL1p.P192S
Missense
SNP
0.506
NDNDND
VIPR1p.A30V
Missense
SNP
0.427
2-ND
VPS13Bp.L1503I
Missense
SNP
0.510
2-ND
VPS13Dp.R2272I
Missense
SNP
0.448
2-ND
VPS33Ap.S350W
Missense
SNP
0.478
2-ND
VPS36-
-
-
-
3GainND
VSTM2Ap.A150V
Missense
SNP
0.450
2-ND
WDCPp.I363M
Missense
SNP
0.476
2-ND
WDFY3p.G373S
Missense
SNP
0.543
2-ND
WDFY4p.V1357M
Missense
SNP
0.423
2-ND
WDR11p.K61E
Missense
SNP
0.514
2-ND
WEE1p.R319K
Missense
SNP
0.395
2-ND
WFS1p.L130V
Missense
SNP
0.486
2-ND
WNK1p.R81S
p.A2229E
Missense
Missense
SNP
SNP
0.571
0.460
2-ND
WRNp.S467N
Missense
SNP
0.453
2-ND
XAGE2p.P40L
Missense
SNP
0.414
NDNDND
XKR4p.D16Y
Missense
SNP
0.460
2-ND
XPO6p.V292I
Missense
SNP
0.482
2-ND
YLPM1p.P1804Q
Missense
DNP
0.500
2-ND
ZBTB22p.M421I
Missense
SNP
0.537
2-ND
ZBTB25p.A181T
Missense
SNP
0.541
2-ND
ZBTB38p.G403*
Nonsense
SNP
0.434
2-ND
ZBTB49p.C369*
Nonsense
SNP
0.507
2-ND
ZC3H12Ap.P463Q
Missense
SNP
0.509
2-ND
ZC3H7Ap.A422T
Missense
SNP
0.502
2-ND
ZCCHC7p.M177I
Missense
SNP
0.384
2-ND
ZDHHC11-
-
-
-
3GainND
ZEB1p.N477K
Missense
SNP
0.551
2-ND
ZFATp.Q645H
Missense
SNP
0.536
2-ND
ZFP36p.S52G
Missense
SNP
0.483
2-ND
ZFP36L2p.S97F
Missense
SNP
0.449
2-ND
ZFP82p.P197T
Missense
SNP
0.492
2-ND
ZFYVE9p.R1143G
Missense
SNP
0.564
2-ND
ZHX2p.P244S
Missense
SNP
0.470
2-ND
ZIC2-
-
-
-
3GainND
ZIC5-
-
-
-
3GainND
ZIK1p.S277N
Missense
SNP
0.484
2-ND
ZKSCAN7-
-
-
-
1LossND
ZMYM2p.M458T
Missense
SNP
0.488
2-ND
ZNF100-
-
-
-
1LossND
ZNF101-
-
-
-
1LossND
ZNF112p.V47L
Missense
SNP
0.529
2-ND
ZNF133p.A353T
Missense
SNP
0.502
2-ND
ZNF14-
-
-
-
1LossND
ZNF140p.R339H
Missense
SNP
0.484
2-ND
ZNF195p.N219D
Missense
SNP
0.400
2-ND
ZNF197-
-
-
-
1LossND
ZNF208-
-
-
-
1LossND
ZNF223p.L421F
Missense
SNP
0.471
2-ND
ZNF253-
-
-
-
1LossND
ZNF254-
-
-
-
1LossND
ZNF257-
-
-
-
1LossND
ZNF268p.L403F
Missense
SNP
0.581
2-ND
ZNF324p.G138R
Missense
SNP
0.479
2-ND
ZNF35-
-
-
-
1LossND
ZNF383p.E18D
Missense
SNP
0.522
2-ND
ZNF385Dp.T158M
Missense
SNP
0.538
2-ND
ZNF391p.Q210R
Missense
SNP
0.490
2-ND
ZNF41p.E24*
Nonsense
SNP
0.513
NDNDND
ZNF429-
-
-
-
1LossND
ZNF43-
-
-
-
1LossND
ZNF430-
-
-
-
1LossND
ZNF431-
-
-
-
1LossND
ZNF44p.R261C
p.A150V
Missense
Missense
SNP
SNP
0.486
0.475
2-ND
ZNF469p.P3737L
Missense
SNP
0.444
2-ND
ZNF486-
-
-
-
1LossND
ZNF492-
-
-
-
1LossND
ZNF493-
-
-
-
1LossND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF506-
-
-
-
1LossND
ZNF513p.E203K
Missense
SNP
0.527
2-ND
ZNF521p.P447H
Missense
SNP
0.490
2-ND
ZNF528p.G99R
Missense
SNP
0.505
2-ND
ZNF547p.C329R
Missense
SNP
0.394
2-ND
ZNF558p.T308A
Missense
SNP
0.429
2-ND
ZNF589p.T327I
Missense
SNP
0.456
2-ND
ZNF600p.K561T
Missense
SNP
0.449
2-ND
ZNF611p.C276F
Missense
SNP
0.424
2-ND
ZNF626p.P87Q
Missense
SNP
0.354
1LossND
ZNF646p.E432G
Missense
SNP
0.525
2-ND
ZNF66-
-
-
-
1LossND
ZNF660-
-
-
-
1LossND
ZNF675-
-
-
-
1LossND
ZNF676-
-
-
-
1LossND
ZNF681-
-
-
-
1LossND
ZNF682-
-
-
-
1LossND
ZNF708-
-
-
-
1LossND
ZNF714-
-
-
-
1LossND
ZNF723-
-
-
-
1LossND
ZNF724-
-
-
-
1LossND
ZNF726-
-
-
-
1LossND
ZNF728-
-
-
-
1LossND
ZNF729-
-
-
-
1LossND
ZNF730-
-
-
-
1LossND
ZNF737-
-
-
-
1LossND
ZNF738-
-
-
-
1LossND
ZNF746p.V564M
Missense
SNP
0.504
2-ND
ZNF777p.A687V
Missense
SNP
0.502
2-ND
ZNF792p.R550K
p.H450N
Missense
Missense
SNP
SNP
0.545
0.561
2-ND
ZNF804Ap.A184T
Missense
SNP
0.530
2-ND
ZNF831p.A75P
Missense
SNP
0.472
2-ND
ZNF835p.A535T
Missense
SNP
0.429
2-ND
ZNF837p.H493N
Missense
SNP
0.492
2-ND
ZNF85-
-
-
-
1LossND
ZNF852-
-
-
-
1LossND
ZNF90-
-
-
-
1LossND
ZNF91-
-
-
-
1LossND
ZNF93-
-
-
-
1LossND
ZNF98-
-
-
-
1LossND
ZNF99-
-
-
-
1LossND
ZSCAN10p.P466L
Missense
SNP
0.471
2-ND
ZSCAN5Ap.P23R
Missense
SNP
0.502
2-ND