PDMR-188146~221-R~KGTPL0-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2p.A286V
Missense
SNP
0.438
2--
ABCA4p.A222E
Missense
SNP
0.540
2--
ABCA6p.G1447W
p.F139S
Missense
Missense
SNP
SNP
0.329
0.511
2--
ABCA9p.A679T
Missense
SNP
0.448
2--
ABCC4-
-
-
-
3Gain-
ABCG5p.V232A
Missense
SNP
0.452
2--
ABHD13-
-
-
-
3Gain-
ABI3p.A81V
Missense
SNP
0.550
2--
ABI3BPp.P915L
Missense
SNP
0.495
2--
ABTB1p.E378D
Missense
SNP
0.416
2--
ABTB2p.A171T
Missense
SNP
0.416
2--
AC001226.2-
-
-
-
3Gain-
AC004076.9p.P100H
Missense
SNP
0.510
NDND-
AC074143.1-
-
-
-
5Amp-
ACACAp.S975N
p.T706A
Missense
Missense
SNP
SNP
0.458
0.464
2--
ACEp.E923G
Missense
SNP
0.478
2--
ACIN1p.S20N
Missense
SNP
0.508
2--
ACOD1-
-
-
-
3Gain-
ACOT4p.A146T
Missense
SNP
0.551
2--
ACRBPp.G314C
Missense
SNP
0.378
2--
ACTN3p.K920N
Missense
SNP
0.490
2--
ADALp.D13Y
Missense
SNP
0.404
2--
ADAMTS10p.Q780R
Missense
SNP
0.476
2--
ADAMTS12p.R556K
Missense
SNP
0.400
2--
ADAMTS2p.S720N
Missense
SNP
0.463
2--
ADAMTS5p.R68H
Missense
SNP
0.542
2--
ADCY1p.D336N
Missense
SNP
0.421
2--
ADCY8p.R49C
Missense
SNP
0.617
2--
ADCY9p.V985I
Missense
SNP
0.379
2--
ADCYAP1p.A125T
Missense
SNP
1.000
2--
ADGRB3p.F166L
p.X454_splice
p.R1302G
Missense
Splice_Site
Missense
SNP
SNP
SNP
0.476
0.444
0.479
2--
ADGRD2p.R76H
Missense
SNP
0.461
2--
ADGRL2p.Q165L
Missense
SNP
0.580
2--
ADIPOR2p.L115F
Missense
SNP
0.550
2--
ADPRHL1-
-
-
-
3Gain-
AFTPHp.P747S
Missense
SNP
0.461
2--
AGFG2p.G180S
Missense
SNP
0.471
2--
AGO2p.A184T
Missense
SNP
0.453
2--
AHNAK-
-
-
-
2-AHNAK--SLC44A1
AJAP1p.S342R
Missense
SNP
0.501
2--
AK5p.E466*
Nonsense
SNP
0.449
2--
AKAP10p.A412E
Missense
SNP
0.534
2--
AKT3p.G160W
Missense
SNP
0.433
2--
AL445238.1-
-
-
-
4Gain-
AL445989.1-
-
-
-
4Gain-
AL592490.1-
-
-
-
3Gain-
ALDH6A1p.A92V
Missense
SNP
0.467
2--
ALKp.G761D
Missense
SNP
0.476
2--
ALX1p.G120V
Missense
SNP
0.421
2--
AMER2p.E312D
Missense
SNP
0.495
2--
AMHp.G264C
Missense
SNP
0.494
2--
AMIGO1p.N111T
Missense
SNP
0.476
2--
AMIGO3p.A62D
Missense
SNP
0.481
2--
ANAPC7p.L464S
Missense
SNP
0.480
2--
ANGPT1p.N182D
Missense
SNP
0.361
2--
ANK2p.A195V
p.M1510I
Missense
Missense
SNP
SNP
0.568
0.498
2--
ANKFY1p.T1088M
Missense
SNP
0.381
2--
ANKRD10-
-
-
-
3Gain-
ANKRD18Bp.G294R
Missense
SNP
0.127
2--
ANKRD24p.R1004H
Missense
SNP
0.528
2--
ANKRD34Ap.V13M
Missense
SNP
0.506
2--
ANKRD36p.R96S
Missense
SNP
0.503
2--
ANKRD53p.P30Q
Missense
SNP
0.549
2--
AP2A1p.R516H
Missense
SNP
0.568
2--
APOL6p.V216M
Missense
SNP
0.503
2--
AQP6p.H184N
Missense
SNP
0.397
2--
AQRp.P959Q
Missense
SNP
0.415
2--
ARAP2p.S939P
Missense
SNP
0.417
2--
ARFGEF1p.T823I
Missense
SNP
0.522
2--
ARGLU1-
-
-
-
3Gain-
ARHGAP15p.A378V
Missense
SNP
0.442
2--
ARHGAP17p.L629M
Missense
SNP
0.415
2--
ARHGAP21p.A688D
Missense
SNP
0.459
2--
ARHGAP23p.R1327C
Missense
SNP
0.549
2--
ARHGAP28p.H293N
Missense
SNP
0.521
2--
ARHGAP31p.L715P
Missense
SNP
0.585
2--
ARHGAP33p.R1075K
Missense
SNP
0.518
2--
ARHGAP35p.L497F
Missense
SNP
0.403
2--
ARHGAP6p.W947L
Missense
SNP
0.424
NDND-
ARHGEF7-
-
-
-
3Gain-
ARMCX4p.F2009L
Missense
SNP
0.497
NDND-
ARRDC5p.C138Y
Missense
SNP
0.535
2--
ARSFp.R354Q
Missense
SNP
0.473
NDND-
ASB2p.T456I
Missense
SNP
0.523
2--
ASCC3p.T1755I
Missense
SNP
0.451
2--
ASTN1p.A145T
Missense
SNP
0.597
2--
ATAD2Bp.M1120I
Missense
SNP
0.502
2--
ATCAYp.K176R
Missense
SNP
0.469
2--
ATF7IP2p.D223N
Missense
SNP
0.393
2--
ATG101p.L200M
Missense
SNP
0.454
2--
ATG13p.X483_splice
Splice_Site
SNP
0.440
2--
ATG3p.K131N
Missense
SNP
0.606
2--
ATG4Bp.A47E
Missense
SNP
0.411
2--
ATMp.T2636I
Missense
SNP
0.490
2--
ATN1p.S119N
Missense
SNP
0.470
2--
ATP11A-
-
-
-
3Gain-
ATP13A1p.T401M
Missense
SNP
0.491
2--
ATP1A2p.R225H
Missense
SNP
0.482
2--
ATP1A3p.X171_splice
Splice_Site
DNP
0.480
2--
ATP1A4p.M403I
Missense
SNP
0.517
2--
ATP2A2p.T242S
Missense
SNP
0.428
2--
ATP4B-
-
-
-
3Gain-
ATP5J2-PTCD1p.M26I
Missense
SNP
0.553
NDND-
ATP7Ap.D609N
Missense
SNP
0.474
NDND-
ATP7Bp.R166Q
Missense
SNP
0.510
2--
ATP8B2p.A1066T
Missense
SNP
0.482
2--
ATP9Ap.K404N
Missense
SNP
0.591
2--
ATRNp.A6E
Missense
SNP
0.386
2--
B3GALT4p.Q135*
Nonsense
SNP
0.467
2--
B3GALT5p.P268R
Missense
SNP
0.323
2--
B3GNT9p.V234M
Missense
SNP
0.229
5Amp-
BAIAP3p.D1113N
Missense
SNP
0.440
2--
BANPp.S445N
Missense
SNP
0.526
2--
BCAT2p.S179L
Missense
SNP
0.557
2--
BCL11Bp.G655R
Missense
SNP
0.429
2--
BCL7Ap.P214Q
Missense
SNP
0.454
2--
BCL9Lp.P314L
Missense
SNP
0.514
2--
BEX1p.Q74*
Nonsense
SNP
0.389
NDND-
BICD2p.T391A
Missense
SNP
0.491
2--
BIN2p.Q440K
Missense
SNP
0.384
2--
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLOC1S5p.S101N
Missense
SNP
0.463
2--
BMPR1Ap.T229I
Missense
SNP
0.561
2--
BMPR2p.R213*
Nonsense
SNP
0.545
2--
BORAp.A75V
Missense
SNP
0.352
3Gain-
BRAFp.V600E
Missense
SNP
0.510
2--
BRAT1p.A716G
Missense
SNP
0.493
2--
BRCA2p.D2611N
Missense
SNP
0.517
2--
BRD8p.L315V
Missense
SNP
0.480
2--
BRDTp.G413R
Missense
SNP
0.525
2--
BRINP3-
-
-
-
3Gain-
BRIX1p.E37K
Missense
SNP
0.494
2--
BTBD11p.R228H
Missense
SNP
0.526
2--
BTBD9p.R8H
Missense
SNP
0.107
2--
BYSLp.E128D
Missense
SNP
0.480
2--
C10orf54p.M233I
Missense
SNP
0.479
NDND-
C10orf71p.V258I
Missense
SNP
0.541
2--
C11orf21p.P80S
Missense
SNP
0.480
2--
C11orf68p.K240M
Missense
SNP
0.514
2--
C11orf84p.A32T
Missense
SNP
0.515
NDND-
C15orf48p.T21N
Missense
SNP
0.412
2--
C16orf70-
-
-
-
5Amp-
C17orf53p.S513N
Missense
SNP
0.524
2--
C17orf58p.Q57K
Missense
SNP
0.522
2--
C19orf52p.A136V
Missense
SNP
0.435
NDND-
C1orf112p.D594G
Missense
SNP
0.537
2--
C1orf167p.R742L
Missense
SNP
0.269
2--
C1orf50p.L56I
Missense
SNP
0.497
2--
C2p.L241M
Missense
SNP
0.530
2--
C20orf24p.Q90H
Missense
SNP
0.452
NDND-
C2orf80p.S133N
Missense
SNP
0.415
2--
C3p.T329I
Missense
SNP
0.492
2--
C3AR1p.S74P
Missense
SNP
0.568
2--
C3orf22p.Q18R
Missense
SNP
0.447
2--
C4orf48p.C123Y
Missense
SNP
0.539
2--
C8orf48p.R44Q
Missense
SNP
0.473
2--
C9orf69p.T66I
Missense
SNP
0.447
NDND-
C9orf84p.G874R
Missense
SNP
0.339
2--
CABIN1p.S1921L
Missense
SNP
0.506
2--
CACNA1Bp.P538T
p.V1704L
Missense
Missense
SNP
SNP
0.445
0.454
2--
CACNA1Gp.V230I
Missense
SNP
0.476
2--
CACNA2D4p.P36L
Missense
SNP
0.488
2--
CACNB4p.Y398*
p.Q164*
Nonsense
Nonsense
SNP
SNP
0.451
0.524
2--
CADp.W743*
Nonsense
SNP
0.455
2--
CADM4p.V247I
Missense
SNP
0.519
2--
CALN1p.R232W
Missense
SNP
0.488
2--
CAPN6p.G293A
Missense
SNP
0.466
NDND-
CARMIL2p.D226N
p.A689V
Missense
Missense
SNP
SNP
0.395
0.456
2--
CARS2-
-
-
-
3Gain-
CASP10p.L384P
Missense
SNP
0.533
2--
CASP8AP2p.V1703I
Missense
SNP
0.407
2--
CATSPERGp.S155N
Missense
SNP
0.543
2--
CBLp.A221V
Missense
SNP
0.429
2--
CCDC102Ap.R31H
Missense
SNP
0.389
2--
CCDC142p.R726Q
Missense
SNP
0.491
2--
CCDC149p.A300V
Missense
SNP
0.433
2--
CCDC168p.T1109I
Missense
SNP
0.417
3Gain-
CCDC170p.X197_splice
Splice_Site
SNP
0.486
2--
CCDC34p.Q347K
Missense
SNP
0.430
2--
CCDC36p.E172D
Missense
SNP
0.480
2--
CCDC47p.V241M
Missense
SNP
0.441
2--
CCDC60p.H161R
p.E517Q
Missense
Missense
SNP
SNP
0.387
0.531
2--
CCKBRp.D254N
Missense
SNP
0.471
2--
CCM2Lp.V34M
Missense
SNP
0.332
2--
CCNJLp.L313V
Missense
SNP
0.538
2--
CCR5p.T284I
Missense
SNP
0.461
2--
CD163p.E764*
Nonsense
SNP
0.530
2--
CD276p.A432V
Missense
SNP
0.520
2--
CD4p.Q137K
Missense
SNP
0.461
2--
CD96p.V505I
Missense
SNP
0.475
2--
CDC16-
-
-
-
3Gain-
CDC25Bp.L34M
Missense
SNP
0.576
2--
CDH12p.E760D
Missense
SNP
0.398
2--
CDH22p.T562M
Missense
SNP
0.504
2--
CDH23p.R2112*
Nonsense
SNP
0.440
2--
CDH6p.W770C
Missense
SNP
0.479
2--
CDH7p.R771*
Nonsense
SNP
1.000
2--
CDKL5p.V192M
Missense
SNP
0.458
NDND-
CDONp.G393V
Missense
SNP
0.442
2--
CEACAM1p.D116E
Missense
SNP
0.566
2--
CECR1p.A448S
Missense
SNP
0.444
NDND-
CENPEp.Q918*
Nonsense
SNP
0.477
2--
CFAP74p.P1106Q
Missense
SNP
0.441
2--
CFHp.M340T
Missense
SNP
0.480
2--
CGNL1p.Q199*
Nonsense
SNP
0.513
2--
CHAMP1-
-
-
-
3Gain-
CHCHD2p.X149_splice
Splice_Site
SNP
0.526
2--
CHD3p.V36E
Missense
SNP
0.465
2--
CHD4p.V437I
Missense
SNP
0.416
2--
CHD7p.P532T
Missense
SNP
0.543
2--
CHD8p.G266W
Missense
SNP
0.544
2--
CHFRp.P177S
Missense
SNP
0.127
2--
CHRM4p.I410V
Missense
SNP
0.433
2--
CHRNB4p.W143*
Nonsense
SNP
0.428
2--
CHRNGp.A301V
Missense
SNP
0.514
2--
CHST7p.P174L
Missense
SNP
0.506
NDND-
CILP2p.R735H
Missense
SNP
0.509
2--
CKAP2-
-
-
-
3Gain-
CLASRPp.P287H
Missense
SNP
0.542
2--
CLCN2p.G382C
Missense
SNP
0.443
2--
CLCN7p.G820D
Missense
SNP
0.615
2--
CLDN10-
-
-
-
3Gain-
CLDN19p.S217P
Missense
SNP
0.577
2--
CLDND2p.*168Rext*?
Nonstop
SNP
0.502
NDND-
CLEC17Ap.E22D
Missense
SNP
0.517
2--
CLEC6Ap.E120D
Missense
SNP
0.486
2--
CLN5-
-
-
-
3Gain-
CLNS1Ap.S50Y
Missense
SNP
0.400
2--
CLSTN1p.Q266*
Nonsense
SNP
0.478
2--
CLUHp.S1123L
Missense
SNP
0.437
2--
CLYBL-
-
-
-
3Gain-
CMYA5p.G1579C
Missense
SNP
0.448
2--
CNMD-
-
-
-
3Gain-
CNNM2p.L378I
Missense
SNP
0.455
2--
CNOT10p.P786L
Missense
SNP
0.562
2--
CNOT3p.K356R
Missense
SNP
0.552
2--
CNTN5p.R245W
Missense
SNP
0.450
2--
COCHp.A3T
p.G476W
Missense
Missense
SNP
SNP
0.534
0.512
2--
COL11A1p.V405L
Missense
SNP
0.441
2--
COL11A2p.G300E
Missense
SNP
0.542
2--
COL22A1p.G1576*
Nonsense
SNP
0.330
2--
COL24A1p.G561A
Missense
SNP
0.447
2--
COL2A1p.P970S
Missense
SNP
0.468
2--
COL4A1p.G732R
p.X374_splice
Missense
Splice_Site
SNP
SNP
0.339
0.345
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A4p.P709H
p.G539R
Missense
Missense
SNP
SNP
0.516
0.598
2--
COL5A2p.P685L
Missense
SNP
0.492
2--
COL6A1p.A965T
Missense
SNP
0.566
2--
COL6A5p.S143L
Missense
SNP
0.532
2--
COL6A6p.A889V
Missense
SNP
0.500
2--
COL7A1p.T389A
Missense
SNP
0.426
2--
COL8A1p.G167W
p.N608H
Missense
Missense
SNP
SNP
0.540
0.415
2--
COMMD6-
-
-
-
3Gain-
COPAp.H102N
Missense
SNP
0.397
2--
COPG1p.A831V
Missense
SNP
0.522
2--
COPS2p.R169*
Nonsense
SNP
0.570
2--
COQ4p.W143L
Missense
SNP
0.484
2--
CPAMD8p.X1699_splice
p.L1496M
Splice_Site
Missense
SNP
SNP
0.477
0.519
2--
CPDp.G324D
Missense
SNP
0.472
2--
CPNE5p.X46_splice
Splice_Site
SNP
0.518
2--
CREB1p.P132L
Missense
SNP
0.591
2--
CREB3L1p.A151T
Missense
SNP
0.486
2--
CREBBPp.Q2157K
Missense
SNP
0.516
2--
CRMP1p.R113H
Missense
SNP
0.545
2--
CRNN-
-
-
-
3Gain-
CROCC2p.E1315*
Nonsense
SNP
0.571
2--
CRYGAp.R147K
Missense
SNP
0.540
2--
CSMD2p.P2199R
Missense
SNP
0.493
2--
CSMD3p.A3269V
Missense
SNP
0.528
2--
CSNK2A3p.I174M
Missense
SNP
0.477
2--
CT83p.G105C
Missense
SNP
0.492
NDND-
CTNND2p.E72*
Nonsense
SNP
0.481
2--
CTPS1p.G451D
Missense
SNP
0.425
2--
CTR9p.S1112R
Missense
SNP
0.556
2--
CUL4A-
-
-
-
3Gain-
CUL9p.H1599Y
Missense
SNP
0.496
2--
CYLC1p.K304T
Missense
SNP
0.412
NDND-
CYP1B1p.V235L
Missense
SNP
0.483
2--
CYP26C1p.R457H
Missense
SNP
0.500
2--
CYP3A7p.V71I
Missense
SNP
0.425
2--
CYP46A1p.R261H
Missense
SNP
0.540
2--
CYP4F22p.R55Q
Missense
SNP
0.474
2--
DACH1-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DARS2p.D393G
Missense
SNP
0.474
2--
DAXXp.R391I
p.R328H
Missense
Missense
SNP
SNP
0.444
0.498
2--
DBX1p.Q30*
Nonsense
SNP
0.500
2--
DCAF1p.A1339T
Missense
SNP
0.447
2--
DCAF12L1p.T115A
Missense
SNP
0.479
NDND-
DCAF4L2p.R339K
Missense
SNP
0.463
2--
DCT-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DCUN1D3p.Q251K
Missense
SNP
0.545
2--
DCXp.F338I
Missense
SNP
0.517
NDND-
DDX4p.R51T
Missense
SNP
0.510
2--
DDX53p.Q360K
Missense
SNP
0.441
NDND-
DEF6p.A294V
Missense
SNP
0.476
2--
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND1Ap.Q898H
Missense
SNP
0.528
2--
DENND6Bp.Q56H
Missense
SNP
0.554
2--
DERAp.I18T
Missense
SNP
0.411
2--
DGKEp.L263F
Missense
SNP
0.517
2--
DHODHp.E190D
Missense
SNP
0.438
2--
DHX30p.R17C
Missense
SNP
0.508
2--
DIAPH3-
-
-
-
3Gain-
DICER1p.Q1702H
Missense
SNP
0.447
2--
DIEXFp.V116L
Missense
SNP
0.491
NDND-
DIP2Cp.V834M
Missense
SNP
0.477
2--
DIS3-
-
-
-
3Gain-
DLG2p.C7F
Missense
SNP
0.441
2--
DLG3p.R271C
Missense
SNP
0.508
NDND-
DLGAP2p.T129M
Missense
SNP
0.500
2--
DLGAP3p.R668*
Nonsense
SNP
0.468
2--
DLL3p.R302C
Missense
SNP
0.528
2--
DLX6p.K165E
Missense
SNP
0.581
2--
DMDp.A2533T
Missense
SNP
0.502
NDND-
DMXL1p.R1676M
Missense
SNP
0.435
2--
DMXL2p.F2491L
Missense
SNP
0.565
2--
DNAH10p.R41H
Missense
SNP
0.544
2--
DNAH3p.L2733P
Missense
SNP
0.267
2--
DNAH5p.R1805C
Missense
SNP
0.525
2--
DNAH8p.R434P
Missense
SNP
0.421
2--
DNAJC17p.X265_splice
p.R157M
Splice_Site
Missense
SNP
SNP
0.414
0.408
2--
DNAJC28p.L358F
Missense
SNP
0.552
2--
DNAJC3-
-
-
-
3Gain-
DNTTIP1p.L207M
Missense
SNP
0.486
2--
DOC2Ap.K207Q
Missense
SNP
0.501
2--
DOCK5p.E307K
Missense
SNP
0.562
2--
DOCK7p.R1547K
Missense
SNP
0.601
2--
DOCK9-
-
-
-
3Gain-
DOLKp.L171F
Missense
SNP
0.437
2--
DOPEY2p.Q1480*
p.L1757P
Nonsense
Missense
SNP
SNP
0.447
0.478
NDND-
DPCR1p.N983H
Missense
SNP
0.503
NDND-
DPF3p.G375C
Missense
SNP
0.529
2--
DPP3p.L658R
Missense
SNP
0.468
2--
DPP9p.A627E
Missense
SNP
0.506
2--
DPPA2p.A196D
Missense
SNP
0.500
2--
DRAXINp.H139Q
Missense
SNP
0.614
2--
DRD3p.S244F
Missense
SNP
0.519
2--
DSC2p.C15Y
Missense
SNP
0.478
2--
DSPp.A2691G
Missense
SNP
0.508
2--
DTLp.Q33H
Missense
SNP
0.504
2--
DTX4p.P508H
Missense
SNP
0.455
2--
DUOX2p.G1236D
Missense
SNP
0.447
2--
DUS3Lp.E504*
Nonsense
SNP
0.510
2--
DUSP5p.M307I
Missense
SNP
0.451
2--
DYSFp.A1611T
Missense
SNP
0.486
2--
DZIP1p.Q438*
Nonsense
SNP
0.329
3Gain-
E2F1p.L395P
Missense
SNP
0.526
2--
E2F4-
-
-
-
5Amp-
EBF3p.R246C
p.R209W
Missense
Missense
SNP
SNP
0.475
0.457
2--
ECM1p.P466L
Missense
SNP
0.532
2--
EDAp.P187L
Missense
SNP
0.603
NDND-
EDNRB-
-
-
-
3Gain-
EEF1Gp.C68S
Missense
SNP
0.467
2--
EFCAB13p.H6N
Missense
SNP
0.458
2--
EFNB2-
-
-
-
3Gain-
EFR3Ap.Q529P
Missense
SNP
0.326
2--
EGR1p.R336C
Missense
SNP
0.482
2--
EHBP1p.R1189H
Missense
SNP
0.457
2--
EHMT1p.G325D
Missense
SNP
0.455
2--
EIF2Ap.T246S
Missense
SNP
0.447
2--
EIF3Hp.T123I
Missense
SNP
0.473
2--
ELF2p.A480T
Missense
SNP
0.563
2--
ELFN2p.P258H
Missense
SNP
0.534
2--
ELL3p.P235S
Missense
SNP
0.503
2--
ELMO3-
-
-
-
5Amp-
EML2p.R79P
Missense
SNP
0.504
2--
EMSYp.A539V
Missense
SNP
0.500
2--
EN1p.G37S
Missense
SNP
0.548
2--
ENPP1p.A546T
Missense
SNP
0.485
2--
EP400p.R1880W
Missense
SNP
0.500
2--
EPHA5p.L450V
Missense
SNP
0.347
2--
EPHX3p.G336W
Missense
SNP
0.461
2--
EPHX4p.S335T
Missense
SNP
0.565
2--
EPPK1-
-
-
-
1Loss-
ERCC5-
-
-
-
3Gain-
ERFEp.R98S
Missense
SNP
0.500
2--
ERO1Ap.P185L
Missense
SNP
0.434
2--
ERVMER34-1p.A534T
Missense
SNP
0.520
2--
ESPL1p.R664K
Missense
SNP
0.445
2--
ETV3Lp.R78H
Missense
SNP
0.506
2--
EVA1Ap.V97M
Missense
SNP
0.410
2--
EVPLp.Q1208*
Nonsense
SNP
0.468
2--
EXO5p.C352Y
Missense
SNP
0.562
2--
EXOC3L1-
-
-
-
5Amp-
EXOSC8p.P81H
Missense
SNP
0.547
2--
F10p.A187D
Missense
SNP
0.336
3Gain-
F7-
-
-
-
3Gain-
FAM111Bp.S112G
Missense
SNP
0.431
2--
FAM127Bp.N92Y
Missense
SNP
0.490
NDND-
FAM149B1p.G80W
Missense
SNP
0.395
2--
FAM155A-
-
-
-
3Gain-
FAM161Bp.Q487*
Nonsense
SNP
0.551
2--
FAM171A2p.G229C
Missense
SNP
0.471
2--
FAM179Bp.L1487I
Missense
SNP
0.487
NDND-
FAM198Ap.L356M
Missense
SNP
0.482
2--
FAM198Bp.C351Y
Missense
SNP
0.424
2--
FAM208Ap.G1073D
Missense
SNP
0.494
2--
FAM21Cp.S31I
Missense
SNP
0.581
NDND-
FAM221Bp.A341T
Missense
SNP
0.567
2--
FAM43Bp.R207C
Missense
SNP
0.476
2--
FAM65Cp.D287N
Missense
SNP
0.493
NDND-
FAM71E2p.S316L
Missense
SNP
0.424
2--
FAM83Hp.P112S
Missense
SNP
0.513
2--
FARP1-
-
-
-
3Gain-
FARSBp.X540_splice
Splice_Site
SNP
0.612
2--
FAT3p.R4063C
Missense
SNP
0.514
2--
FBN1p.G479E
Missense
SNP
0.539
2--
FBN2p.Q257H
Missense
SNP
0.471
2--
FBXL13p.C489Y
Missense
SNP
0.452
2--
FBXL3-
-
-
-
3Gain-
FBXL8p.A158T
Missense
SNP
0.738
5Amp-
FBXO31p.P176L
Missense
SNP
0.511
2--
FBXO46p.G207C
Missense
SNP
0.526
2--
FCHSD1p.R671C
Missense
SNP
0.386
2--
FEM1Cp.S418I
Missense
SNP
0.424
2--
FGD1p.G791V
Missense
SNP
0.548
NDND-
FGF14-
-
-
-
3Gain-
FGFR1p.N794D
Missense
SNP
0.530
2--
FHL2p.C254Y
Missense
SNP
0.446
2--
FHOD1-
-
-
-
5Amp-
FHOD3p.S802N
Missense
SNP
1.000
2--
FITM1p.W98*
Nonsense
SNP
0.600
2--
FKRPp.A122V
Missense
SNP
0.607
2--
FLG2-
-
-
-
3Gain-
FLNAp.K620N
Missense
SNP
0.479
NDND-
FLRT2-
-
-
-
3Gain-
FNDC3Bp.N552D
Missense
SNP
0.574
2--
FOXA1p.G318V
Missense
SNP
0.524
2--
FOXJ1p.Q84E
Missense
SNP
0.598
2--
FOXRED2p.R407C
Missense
SNP
0.475
2--
FOXS1p.C202Y
Missense
SNP
0.544
2--
FPR1p.S215P
Missense
SNP
0.408
NDND-
FRA10AC1p.K262R
Missense
SNP
0.553
2--
FRAS1p.E1132K
Missense
SNP
0.488
2--
FREM1p.E1344Q
Missense
SNP
0.470
2--
FRMD1p.I226T
Missense
SNP
0.463
2--
FRMPD3p.G681W
p.T786I
Missense
Missense
SNP
SNP
0.534
0.561
NDND-
FXR2p.R378M
Missense
SNP
0.442
2--
FZD1p.R517H
Missense
SNP
0.165
2--
FZD6p.I86T
Missense
SNP
0.536
2--
GABRA1p.L221P
Missense
SNP
0.450
2--
GABRB1p.A363T
Missense
SNP
0.428
2--
GAD1p.R387H
Missense
SNP
0.482
2--
GALNT10p.T584N
Missense
SNP
0.431
2--
GALNT15p.A263S
Missense
SNP
0.480
2--
GALR3p.A236T
Missense
SNP
0.443
2--
GAPVD1p.L444I
Missense
SNP
0.428
2--
GAREM2p.E350K
Missense
SNP
0.463
2--
GAS6-
-
-
-
3Gain-
GATA4p.R195W
Missense
SNP
0.357
2--
GCNT2p.A325V
Missense
SNP
0.477
2--
GDF7p.A337V
Missense
SNP
0.573
2--
GGACT-
-
-
-
3Gain-
GGT6p.E33K
Missense
SNP
0.519
2--
GGT7p.A456V
Missense
SNP
0.483
2--
GH2p.E217K
Missense
SNP
0.444
2--
GHRp.P307Q
Missense
SNP
0.409
2--
GHRHRp.X271_splice
Splice_Site
SNP
0.438
2--
GIGYF2p.A581V
Missense
SNP
0.495
2--
GIMAP2.
Splice_Site
SNP
0.574
2--
GLI1p.A985V
Missense
SNP
0.513
2--
GLIS2p.P266T
Missense
SNP
0.449
2--
GLUD2p.R519G
Missense
SNP
0.467
NDND-
GLULp.G251S
Missense
SNP
0.410
2--
GNAI2p.A104T
Missense
SNP
0.563
2--
GOLGA5p.H211Q
Missense
SNP
0.521
2--
GOLGA7Bp.G61R
Missense
SNP
0.455
2--
GPBAR1p.A223T
Missense
SNP
0.588
2--
GPC5-
-
-
-
4Gain-
GPC6-
-
-
-
4Gain-
GPR152p.L149F
Missense
SNP
0.486
2--
GPR179p.L610F
Missense
SNP
0.407
2--
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183p.S332Y
Missense
SNP
0.342
3Gain-
GPR20p.G316V
Missense
SNP
0.577
2--
GPR89A-
-
-
-
1Loss-
GRID2p.R45C
p.N52H
Missense
Missense
SNP
SNP
0.569
0.422
2--
GRIN1p.A755V
Missense
SNP
0.474
2--
GRIN2Ap.T1164M
Missense
SNP
0.451
2--
GRIN2Cp.R1076P
Missense
SNP
0.452
2--
GRK1-
-
-
-
3Gain-
GRK4p.E574K
Missense
SNP
0.451
2--
GRM5p.D849G
Missense
SNP
0.483
2--
GRNp.V500L
Missense
SNP
0.468
2--
GRTP1-
-
-
-
3Gain-
GTPBP1p.Q235R
Missense
SNP
0.492
2--
GTPBP2p.L284Q
Missense
SNP
0.497
2--
GTPBP3p.R494W
Missense
SNP
0.516
2--
H2AFJp.Q105R
Missense
SNP
0.492
2--
HABP2p.A214V
Missense
SNP
0.458
2--
HAPLN1p.Y301C
Missense
SNP
0.441
2--
HARS2p.E431K
Missense
SNP
0.478
2--
HBEGFp.P52S
Missense
SNP
0.448
2--
HDAC10p.G294S
Missense
SNP
0.508
2--
HDAC11p.R287L
Missense
SNP
0.552
2--
HDAC4p.Q1032*
Nonsense
SNP
0.421
2--
HDAC5p.P664L
Missense
SNP
0.521
2--
HDAC9p.L18P
Missense
SNP
0.505
2--
HECTD3p.R450S
Missense
SNP
0.439
2--
HECW1p.E615A
Missense
SNP
0.438
2--
HELZp.A905T
Missense
SNP
0.484
2--
HELZ2p.P2168H
Missense
SNP
0.491
2--
HEPACAM2p.A84E
Missense
SNP
0.473
2--
HERC1p.P3538L
Missense
SNP
0.562
2--
HERC2p.R2568*
Nonsense
SNP
0.495
2--
HERC3p.S495P
Missense
SNP
0.447
2--
HEXAp.G261S
Missense
SNP
0.406
2--
HHIPL1p.C87Y
Missense
SNP
0.600
2--
HIC2p.L80I
Missense
SNP
0.434
2--
HIP1p.R620*
p.K527N
Nonsense
Missense
SNP
SNP
0.582
0.509
2--
HIPK3p.A694T
Missense
SNP
0.400
2--
HIPK4p.R343H
Missense
SNP
0.518
2--
HIRAp.K1017R
Missense
SNP
0.440
2--
HIRIP3p.Q225*
Nonsense
SNP
0.401
2--
HIST1H1Dp.A69T
Missense
SNP
0.506
2--
HIST2H3PS2-
-
-
-
1Loss-
HIVEP3p.A1003V
Missense
SNP
0.456
2--
HK2p.A839T
Missense
SNP
0.106
2--
HKDC1p.D209E
Missense
SNP
0.511
2--
HMCN1p.Q4558H
Missense
SNP
0.569
2--
HOOK2p.R279Q
Missense
SNP
0.646
2--
HOXA7p.Y6C
Missense
SNP
0.460
2--
HPS1p.P323H
Missense
SNP
0.390
2--
HS3ST4p.R273C
Missense
SNP
0.370
2--
HS6ST3-
-
-
-
3Gain-
HSD3B2p.P312L
Missense
SNP
0.396
2--
HSF4-
-
-
-
5Amp-
HSPB7p.G69*
p.C35S
Nonsense
Missense
SNP
SNP
0.518
0.479
2--
HSPG2p.A3873V
p.C1668F
p.P1449Q
Missense
Missense
Missense
SNP
SNP
SNP
0.470
0.556
0.500
2--
IARSp.P351H
Missense
SNP
0.510
2--
IGDCC4p.L183F
Missense
SNP
0.563
2--
IGLV3-22p.E99K
Missense
SNP
0.464
NDND-
IL10RAp.D544Y
Missense
SNP
0.506
2--
IL17RBp.Y443N
Missense
SNP
0.537
2--
IL23Ap.C89Y
Missense
SNP
0.439
2--
IL4I1p.A48T
Missense
SNP
0.502
2--
IL6p.A86T
Missense
SNP
0.392
2--
IMMTp.A227S
Missense
SNP
0.333
2--
INAp.R130Q
Missense
SNP
0.497
2--
ING1-
-
-
-
3Gain-
INO80p.P1072Q
Missense
SNP
0.424
2--
INTS8p.V778M
Missense
SNP
0.449
2--
INVSp.G1011V
Missense
SNP
0.511
2--
IPO4p.A552V
Missense
SNP
0.483
2--
IPO5-
-
-
-
3Gain-
IPO7p.R184H
Missense
SNP
0.423
2--
IRAK1p.G53R
Missense
SNP
0.545
NDND-
IRS2-
-
-
-
3Gain-
IRX4p.C373Y
Missense
SNP
0.540
2--
IRX5p.S387P
Missense
SNP
0.515
2--
ITGB7p.L106P
Missense
SNP
0.625
2--
ITGBL1-
-
-
-
3Gain-
ITPKBp.T576A
Missense
SNP
0.467
2--
ITPR1p.R1057H
Missense
SNP
0.519
2--
ITPR2p.A68T
Missense
SNP
0.489
2--
ITPRIPL1p.P392H
Missense
SNP
0.525
2--
IVLp.Q362*
Nonsense
SNP
0.479
2--
IWS1p.M355I
Missense
SNP
0.485
2--
IZUMO2p.L22M
Missense
SNP
0.112
2--
JADE2p.R416W
Missense
SNP
0.500
2--
JAK2p.V1042M
Missense
SNP
0.428
2--
KALRNp.Q577*
Nonsense
SNP
0.527
2--
KANK2p.A368V
Missense
SNP
0.486
2--
KAT8p.E20D
Missense
SNP
0.580
2--
KCNA3p.F314I
Missense
SNP
0.514
2--
KCNC1p.M414I
Missense
SNP
0.458
2--
KCNC3p.G252D
Missense
SNP
0.562
2--
KCND2p.R259H
p.S350L
Missense
Missense
SNP
SNP
0.498
0.515
2--
KCNG1p.G277C
Missense
SNP
0.466
2--
KCNG4p.A140T
Missense
SNP
0.506
2--
KCNH2p.A1124G
Missense
SNP
0.518
2--
KCNH4p.K641T
Missense
SNP
0.465
2--
KCNJ18p.R6G
Missense
SNP
0.572
2--
KCNK3p.Y192*
Nonsense
SNP
0.411
2--
KCNQ2p.R210C
Missense
SNP
0.524
2--
KCNV1-
-
-
-
3Gain-
KCPp.A959V
Missense
SNP
0.497
2--
KCTD12-
-
-
-
3Gain-
KCTD18p.P347T
Missense
SNP
0.446
2--
KCTD19-
-
-
-
5Amp-
KDELC1-
-
-
-
3Gain-
KDM2Bp.V569L
Missense
SNP
0.401
2--
KDM3Bp.N351S
p.Q757*
Missense
Nonsense
SNP
SNP
0.422
0.520
2--
KDM4Bp.E205D
Missense
SNP
0.474
2--
KDM5Ap.V176L
Missense
SNP
0.466
2--
KDM6Bp.G216S
Missense
SNP
0.523
2--
KHSRPp.G669S
Missense
SNP
0.534
2--
KIAA0355p.W1020C
Missense
SNP
0.473
2--
KIAA0895L-
-
-
-
5Amp-
KIAA1217p.E1542K
Missense
SNP
0.460
2--
KIAA1549p.R1863Q
p.Q1726K
Missense
Missense
SNP
SNP
0.501
0.505
2--
KIAA2022p.V1001I
Missense
SNP
0.446
NDND-
KIF15p.S21T
p.T80S
Missense
Missense
SNP
SNP
0.458
0.392
2--
KIF21Ap.G911D
Missense
SNP
0.311
2--
KIFC1p.G127*
Nonsense
SNP
0.422
2--
KIR2DS4p.P183S
Missense
SNP
0.506
NDND-
KLF1p.C286Y
Missense
SNP
0.535
2--
KLF12-
-
-
-
3Gain-
KLF5-
-
-
-
3Gain-
KLF9p.R192H
Missense
SNP
0.516
2--
KLHL1-
-
-
-
4Gain-
KLHL10p.Y599H
Missense
SNP
0.586
2--
KLHL25p.L399M
Missense
SNP
0.515
2--
KLHL42p.R382H
Missense
SNP
0.460
2--
KLHL9p.A541T
Missense
SNP
0.440
2--
KLRC1p.R22*
Nonsense
SNP
0.538
2--
KMT2Cp.I4674T
Missense
SNP
0.445
2--
KMT2Dp.E3237K
Missense
SNP
0.449
2--
KNDC1p.V543I
p.P1056S
Missense
Missense
SNP
SNP
0.465
0.512
2--
KRT37p.V291M
Missense
SNP
0.494
2--
KRT71p.C93F
Missense
SNP
0.457
2--
KRT75p.L221F
Missense
SNP
0.443
2--
KRT9p.V253M
Missense
SNP
0.379
2--
KYp.S250F
Missense
SNP
0.480
2--
KYAT1p.F28L
Missense
SNP
0.397
2--
LAMA4p.A558V
Missense
SNP
0.506
2--
LAMP1-
-
-
-
3Gain-
LARGE1p.R526C
Missense
SNP
0.460
2--
LARP1Bp.D764Y
Missense
SNP
0.400
2--
LARP4p.V375L
Missense
SNP
0.442
2--
LARS2p.H145N
Missense
SNP
0.509
2--
LCMT2p.T459N
Missense
SNP
0.479
2--
LCORp.S967R
Missense
SNP
0.485
2--
LCP1p.K97N
Missense
SNP
0.450
2--
LENG8p.P543L
Missense
SNP
0.415
2--
LGSNp.G427R
Missense
SNP
0.553
2--
LHCGRp.S171Y
Missense
SNP
0.534
2--
LHX5p.V401M
Missense
SNP
0.510
2--
LIG4-
-
-
-
3Gain-
LILRA5p.H208N
Missense
SNP
0.461
2--
LINGO3p.A265V
p.A39T
Missense
Missense
SNP
SNP
0.502
0.467
2--
LITAFp.S60L
Missense
SNP
0.409
2--
LMO7-
-
-
-
3Gain-
LOXL1p.P312T
Missense
SNP
0.532
2--
LPAR2p.V207G
Missense
SNP
0.383
2--
LRCH1p.P136H
Missense
SNP
0.482
2--
LRFN1p.P401L
Missense
SNP
0.515
2--
LRFN5p.R253H
Missense
SNP
0.480
NDND-
LRP1Bp.A2762V
Missense
SNP
0.527
2--
LRP2p.D1293E
Missense
SNP
0.495
2--
LRP4p.R886*
Nonsense
SNP
0.474
2--
LRRC15p.L215F
Missense
SNP
0.504
2--
LRRC29-
-
-
-
5Amp-
LRRIQ3-
-
-
-
3Gain-
LRRTM2p.S189G
Missense
SNP
0.512
2--
LRWD1p.S253L
Missense
SNP
0.645
2--
LSAMPp.R52W
Missense
SNP
0.525
2--
LSM10p.Q25K
Missense
SNP
0.568
2--
LSM14Ap.R423C
Missense
SNP
0.550
2--
LSM4p.G116D
Missense
SNP
0.489
2--
LTBP2p.H1316N
Missense
SNP
0.373
2--
MAGEE1p.R11C
Missense
SNP
0.449
NDND-
MAMDC4p.H590N
Missense
SNP
0.457
2--
MAP2K5p.S133N
Missense
SNP
0.462
2--
MAP3K4p.L1433M
Missense
SNP
0.419
2--
MAP7D1p.E2K
p.H697Y
Missense
Missense
SNP
SNP
0.379
0.287
2--
MATN1p.L402I
p.V149F
Missense
Missense
SNP
SNP
0.538
0.438
2--
MATN4p.A564S
Missense
SNP
0.553
2--
MBNL2-
-
-
-
3Gain-
MC5Rp.C131Y
Missense
SNP
0.457
2--
MCAMp.L94F
Missense
SNP
0.569
2--
MCF2L-
-
-
-
3Gain-
MCM5p.R724C
Missense
SNP
0.490
2--
MEGF10p.P256L
Missense
SNP
0.506
2--
MELKp.C339Y
Missense
SNP
0.449
2--
MESP2p.D38Y
Missense
SNP
0.433
2--
METTL21C-
-
-
-
3Gain-
MFFp.S223F
Missense
SNP
0.477
2--
MFSD4Bp.Q123H
Missense
SNP
0.600
2--
MGAT5p.H627N
Missense
SNP
0.536
2--
MICAL1p.Q538K
Missense
SNP
0.427
2--
MICAL3p.S1444T
p.A826T
Missense
Missense
SNP
SNP
0.439
0.498
2--
MICU2p.V401A
Missense
SNP
0.355
2--
MIER3p.V418L
Missense
SNP
0.593
2--
MIPEPp.R24Q
Missense
SNP
0.474
2--
MLKLp.X241_splice
Splice_Site
SNP
0.475
2--
MLLT6p.Q916K
p.G918D
Missense
Missense
SNP
SNP
0.492
0.455
2--
MMP16p.V562M
Missense
SNP
0.581
2--
MOGSp.G181R
Missense
SNP
0.454
2--
MON1B.
Splice_Site
SNP
0.528
2--
MORC2p.R608H
Missense
SNP
0.490
2--
MOSPD2p.D220G
Missense
SNP
0.494
NDND-
MPP2p.R201H
Missense
SNP
0.501
2--
MPRIPp.C103*
Nonsense
SNP
0.476
NDND-
MRC1p.S815N
p.I1394S
Missense
Missense
SNP
SNP
0.521
0.483
2--
MRPL32p.A15T
Missense
SNP
0.513
2--
MSANTD3p.Q209H
Missense
SNP
0.488
2--
MSH2p.A609D
Missense
SNP
0.468
2--
MTCL1p.M1276I
Missense
SNP
0.437
2--
MTDHp.P241T
Missense
SNP
0.408
2--
MTFR1Lp.H88N
Missense
SNP
0.545
2--
MTMR4p.D1069G
Missense
SNP
0.399
2--
MTTPp.S822T
Missense
SNP
0.474
2--
MTUS2p.C603Y
Missense
SNP
0.499
2--
MUC12p.Q5326H
Missense
SNP
0.479
2--
MUC16p.T13507R
p.P5244Q
p.S634Y
Missense
Missense
Missense
SNP
SNP
SNP
0.438
0.513
0.456
2--
MUC17p.S1612L
Missense
SNP
0.504
2--
MUC5ACp.K488N
Missense
SNP
0.436
2--
MUC5Bp.I4778N
p.V5146I
Missense
Missense
SNP
SNP
0.482
0.437
2--
MX2p.G111D
Missense
SNP
0.466
2--
MYBPC2p.V575I
Missense
SNP
0.540
2--
MYCBP2-
-
-
-
3Gain-
MYH11p.T1019M
Missense
SNP
0.505
2--
MYO16-
-
-
-
3Gain-
MYO18Bp.K1334N
Missense
SNP
0.579
2--
MYO1Ap.H975Y
Missense
SNP
0.545
2--
MYO1Hp.S468N
Missense
SNP
0.498
2--
MYO5Bp.A1759V
Missense
SNP
1.000
2--
MYO9Bp.A1054E
p.S2049L
Missense
Missense
SNP
SNP
0.515
0.410
2--
MYOCDp.E879K
Missense
SNP
0.533
2--
MYOD1p.S289N
Missense
SNP
0.555
2--
MYOFp.P1364H
Missense
SNP
0.486
2--
MYRFp.C396Y
Missense
SNP
0.470
2--
MZF1p.R391H
Missense
SNP
0.482
2--
MZT1-
-
-
-
3Gain-
N4BP1p.Q803H
Missense
SNP
0.333
2--
NALCN-
-
-
-
3Gain-
NAP1L1p.A322V
Missense
SNP
0.413
2--
NAP1L3p.V414M
Missense
SNP
0.490
NDND-
NAP1L5p.M176V
Missense
SNP
0.483
2--
NAT8p.A2V
Missense
SNP
0.530
2--
NAXD-
-
-
-
3Gain-
NBEAL2p.M568V
Missense
SNP
0.496
2--
NBPF15-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NCAM2p.D834N
Missense
SNP
0.514
2--
NCOR1p.D1579N
Missense
SNP
0.513
2--
NDFIP2-
-
-
-
3Gain-
NDUFA10p.A196T
Missense
SNP
0.392
2--
NDUFAB1p.Q49*
Nonsense
SNP
0.511
2--
NEBp.A1083V
Missense
SNP
0.615
2--
NEGR1-
-
-
-
3Gain-
NEK3-
-
-
-
3Gain-
NEK5p.P682L
Missense
SNP
0.374
3Gain-
NFAT5p.T1011I
Missense
SNP
0.511
2--
NFRKBp.S353L
Missense
SNP
0.463
2--
NHSp.A736T
p.R1561*
Missense
Nonsense
SNP
SNP
0.453
0.425
NDND-
NINLp.V228I
Missense
SNP
0.474
2--
NIPBLp.X1809_splice
Splice_Site
SNP
0.576
2--
NKX2-1p.P307L
Missense
SNP
0.514
2--
NKX2-5p.Q22P
Missense
SNP
0.480
2--
NKX3-2p.A277T
Missense
SNP
0.488
2--
NLRX1p.R9K
p.G971E
Missense
Missense
SNP
SNP
0.481
0.483
2--
NME6p.R116C
Missense
SNP
0.496
2--
NOBOXp.R315C
Missense
SNP
0.607
2--
NOL3-
-
-
-
5Amp-
NOL6p.T838I
Missense
SNP
0.547
2--
NOTCH1p.D909N
Missense
SNP
0.430
2--
NOVA2p.A100V
Missense
SNP
0.464
2--
NPHP4p.V1007M
Missense
SNP
0.508
2--
NPR1p.G537S
Missense
SNP
0.594
2--
NPTNp.N284K
Missense
SNP
0.645
2--
NPTX1p.T71I
Missense
SNP
0.455
2--
NR4A1p.G512S
Missense
SNP
0.526
2--
NR4A2p.F489L
Missense
SNP
0.540
2--
NR4A3p.P274S
Missense
SNP
0.477
2--
NR5A2p.T25M
Missense
SNP
0.463
2--
NRROSp.C9F
Missense
SNP
0.476
2--
NRXN1p.Q692*
Nonsense
SNP
0.470
2--
NRXN2p.L1347M
Missense
SNP
0.507
2--
NSD1p.K1271N
Missense
SNP
0.375
2--
NT5C1Bp.S445T
Missense
SNP
0.574
2--
NUCB2p.D93N
Missense
SNP
0.477
2--
NUP153p.V584F
p.N109D
Missense
Missense
SNP
SNP
0.348
0.462
2--
NUP188p.L333P
Missense
SNP
0.484
2--
OBSCNp.G5102C
p.X5386_splice
Missense
Splice_Site
SNP
SNP
0.463
0.436
2--
OBSL1p.R1538K
Missense
SNP
0.507
2--
OCA2p.V490A
p.T387M
Missense
Missense
SNP
SNP
0.500
0.458
2--
OGDHLp.L833M
Missense
SNP
0.459
2--
OLFM4-
-
-
-
3Gain-
OPN5p.K252E
Missense
SNP
0.497
2--
OPRL1p.R368W
Missense
SNP
0.553
2--
OR10C1p.S192L
Missense
SNP
0.426
2--
OR12D3p.V200I
Missense
SNP
0.511
2--
OR13J1p.T74M
Missense
SNP
0.514
2--
OR2AJ1p.A117V
Missense
SNP
0.568
2--
OR52E5p.A192V
Missense
SNP
0.502
2--
OR56A5p.P272L
Missense
SNP
0.547
2--
OR5B17p.S201L
Missense
SNP
0.456
2--
OSTM1p.T6I
Missense
SNP
0.472
2--
OTOFp.T286I
Missense
SNP
0.526
2--
OTOP3p.A7S
Missense
SNP
0.508
2--
OXGR1-
-
-
-
3Gain-
P3H1p.A166T
Missense
SNP
0.559
2--
P4HA1p.R336C
Missense
SNP
0.525
2--
PABPC5p.G178D
Missense
SNP
0.455
NDND-
PABPN1Lp.G44C
Missense
SNP
0.523
2--
PADI1p.D260Y
Missense
SNP
0.341
2--
PAMp.Q513K
Missense
SNP
0.444
2--
PAPPA2p.D597N
p.G1549S
Missense
Missense
SNP
SNP
0.499
0.545
2--
PARD3p.G600S
p.L464F
Missense
Missense
SNP
SNP
0.551
0.696
2--
PARD6Ap.S205N
Missense
SNP
0.567
2--
PARP12p.S382N
Missense
SNP
0.514
2--
PAX4p.C317Y
Missense
SNP
0.373
2--
PCCA-
-
-
-
3Gain-
PCDH17p.G177S
p.T423M
p.A593T
p.A745T
p.E746K
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.326
0.313
0.358
0.310
0.307
5Amp-
PCDH20-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH8p.L455M
Missense
SNP
0.316
3Gain-
PCDH9-
-
-
-
4Gain-
PCDHA11p.D237N
Missense
SNP
0.475
2--
PCDHA6p.T662M
Missense
SNP
0.491
2--
PCDHA7p.A519T
Missense
SNP
0.519
2--
PCDHA8p.R415H
Missense
SNP
0.529
2--
PCDHB2p.S36P
Missense
SNP
0.437
2--
PCDHB4p.I311N
Missense
SNP
0.474
2--
PCDHGA10p.G16R
Missense
SNP
0.471
2--
PCDHGA9p.S618W
Missense
SNP
0.498
2--
PCDHGB6p.A516V
Missense
SNP
0.487
2--
PCDHGB7p.I319V
Missense
SNP
0.508
2--
PCED1Bp.R90C
Missense
SNP
0.469
2--
PCID2-
-
-
-
3Gain-
PCNAp.L47V
Missense
SNP
0.387
2--
PCNX2p.C874F
Missense
SNP
0.496
2--
PDCD4p.L9P
Missense
SNP
0.549
2--
PDE3Bp.Q646H
Missense
SNP
0.523
2--
PDE4Dp.A272T
Missense
SNP
0.396
2--
PDLIM5p.S32N
Missense
SNP
0.154
2--
PDS5Ap.P946T
Missense
SNP
0.481
2--
PDS5Bp.A1053S
p.S1319T
Missense
Missense
SNP
SNP
0.396
0.470
2--
PEBP1p.E126K
Missense
SNP
0.477
2--
PEG3p.L700F
Missense
SNP
0.494
2--
PELI2p.A173T
Missense
SNP
0.496
2--
PENKp.D225N
Missense
SNP
0.455
2--
PER1p.R846K
Missense
SNP
0.511
2--
PET117p.G22D
Missense
SNP
0.505
2--
PGLYRP2p.R319Q
Missense
SNP
0.505
2--
PIBF1-
-
-
-
3Gain-
PIEZO2p.X1480_splice
Splice_Site
SNP
1.000
2--
PIGZp.L550M
Missense
SNP
1.000
2--
PIK3C3p.E876D
Missense
SNP
0.554
2--
PIK3R6p.P161L
Missense
SNP
0.464
2--
PIM3p.R59H
Missense
SNP
0.522
2--
PITPNM1p.D289N
Missense
SNP
0.466
2--
PITX1p.G299C
Missense
SNP
0.511
2--
PJA1p.Q47K
Missense
SNP
0.530
NDND-
PKD1L3p.E1139*
Nonsense
SNP
0.459
2--
PKN3p.G269R
Missense
SNP
0.503
2--
PKNOX2p.Q327P
Missense
SNP
0.474
2--
PLA2G4A-
-
-
-
3Gain-
PLA2G4Dp.Q793K
Missense
SNP
0.388
2--
PLB1p.V1420F
Missense
SNP
0.529
2--
PLCL1p.C740F
Missense
SNP
0.527
2--
PLCZ1p.L219I
Missense
SNP
0.430
2--
PLEKHA2p.S22N
Missense
SNP
0.514
2--
PLEKHA6p.G211C
Missense
SNP
0.545
2--
PLEKHG1p.R688M
Missense
SNP
0.566
2--
PLEKHG4p.R929*
Nonsense
SNP
0.712
5Amp-
PLPP2p.P7T
Missense
SNP
0.414
2--
PLPPR5p.T23M
Missense
SNP
0.531
2--
PLXNB2p.T1726M
Missense
SNP
0.489
2--
PLXNB3p.A886S
Missense
SNP
0.522
NDND-
PLXND1p.L1208F
Missense
SNP
0.468
2--
PNMA1p.S194F
Missense
SNP
0.521
2--
POGLUT1p.G3V
Missense
SNP
0.346
2--
POLA1p.V1169A
Missense
SNP
0.465
NDND-
POLD1p.T473M
Missense
SNP
0.440
2--
POLG2p.K83N
Missense
SNP
0.451
2--
POMGNT2p.G358W
Missense
SNP
0.526
2--
POMKp.Q4H
Missense
SNP
0.457
2--
POU4F1-
-
-
-
3Gain-
POU5F1Bp.P53Q
Missense
SNP
0.426
2--
PPM1Ep.H275N
Missense
SNP
0.498
2--
PPP1R10p.P661Q
Missense
SNP
0.524
2--
PPP1R13Lp.A745T
Missense
SNP
0.530
2--
PPP1R9Ap.V403M
Missense
SNP
0.509
2--
PPRC1p.P604H
Missense
SNP
0.579
2--
PRAMEF12p.P38Q
Missense
SNP
0.492
2--
PRCPp.C364Y
Missense
SNP
0.381
2--
PRDM12p.H323Y
Missense
SNP
0.574
2--
PRDM13p.E174Q
Missense
SNP
0.510
2--
PRDM15p.G381C
Missense
SNP
0.491
2--
PRICKLE2p.E721V
Missense
SNP
0.608
2--
PRKCBp.G351C
Missense
SNP
0.517
2--
PRKCHp.V485I
Missense
SNP
0.490
2--
PRKD3p.Y437C
Missense
SNP
0.413
2--
PROB1p.P697L
Missense
SNP
0.503
2--
PROM1p.A772T
p.Q22H
Missense
Missense
SNP
SNP
0.436
0.530
2--
PROZ-
-
-
-
3Gain-
PRPF6p.V434M
p.R503H
Missense
Missense
SNP
SNP
0.505
0.778
2--
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRRC2Cp.K1712R
Missense
SNP
0.554
2--
PRRG3p.R19C
p.A125T
Missense
Missense
SNP
SNP
0.508
0.164
NDND-
PRSS21p.D237Y
Missense
SNP
0.462
2--
PRTGp.E398A
Missense
SNP
0.500
2--
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSMB8p.P20Q
Missense
SNP
0.556
2--
PSPC1p.R290H
Missense
SNP
0.531
2--
PSTPIP1p.Y287C
Missense
SNP
0.561
2--
PTK7p.G816W
Missense
SNP
0.461
2--
PTPRCAPp.R94Q
Missense
SNP
0.462
2--
PTPRN2p.G479V
Missense
SNP
0.567
2--
PTPRTp.Y912C
Missense
SNP
0.513
2--
PTPRUp.G994D
Missense
SNP
0.439
2--
PVRIGp.R217Q
Missense
SNP
0.493
2--
PWP1p.P58H
Missense
SNP
0.510
2--
PWWP2Ap.G396S
Missense
SNP
0.442
2--
PXKp.H340N
Missense
SNP
0.376
2--
PYGLp.F327I
Missense
SNP
0.469
2--
PZPp.V1354M
Missense
SNP
0.620
2--
RAB17p.R6K
Missense
SNP
0.405
2--
RAB20-
-
-
-
3Gain-
RAB36p.G46C
Missense
SNP
0.540
2--
RAB3IL1p.A134V
Missense
SNP
0.123
2--
RAB42p.G101S
Missense
SNP
0.504
2--
RAD50p.E1029G
Missense
SNP
0.385
2--
RAG1p.A824S
Missense
SNP
0.512
2--
RAI1p.S1059F
Missense
SNP
0.564
NDND-
RALGAPBp.R775C
Missense
SNP
0.238
2--
RANBP3p.A525V
Missense
SNP
0.457
2--
RAP2A-
-
-
-
3Gain-
RARGp.D340Y
Missense
SNP
0.513
2--
RASA3-
-
-
-
3Gain-
RASAL1p.C134F
Missense
SNP
0.491
2--
RASL10Bp.A194V
Missense
SNP
0.415
2--
RASSF4p.R154H
Missense
SNP
0.470
2--
RBM14p.X601_splice
Splice_Site
SNP
0.406
2--
RBM26-
-
-
-
3Gain-
RCBTB2p.M223I
Missense
SNP
0.480
2--
RDXp.S243N
Missense
SNP
0.493
2--
RECQL4p.Q277*
Nonsense
SNP
0.500
2--
REEP2p.A130V
Missense
SNP
0.511
2--
REEP3p.R8I
Missense
SNP
0.479
2--
RFC1p.N888K
Missense
SNP
0.468
2--
RGL2p.P220H
Missense
SNP
0.436
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS11p.S331G
Missense
SNP
0.436
2--
RGS12p.P13H
Missense
SNP
0.549
2--
RGS18-
-
-
-
3Gain-
RGS20p.M360I
Missense
SNP
0.572
2--
RGS21-
-
-
-
3Gain-
RHOBTB1p.A512V
Missense
SNP
0.521
2--
RHOT2p.V145L
Missense
SNP
0.443
2--
RIC1p.S634T
Missense
SNP
0.453
2--
RIMBP2p.R341H
Missense
SNP
0.450
2--
RIMS2p.A16T
Missense
SNP
0.429
2--
RIMS3p.R293C
Missense
SNP
0.479
2--
RLIMp.G504S
Missense
SNP
0.517
NDND-
RNASELp.H263Y
Missense
SNP
0.541
2--
RNF113B-
-
-
-
3Gain-
RNF139p.H413D
Missense
SNP
0.474
2--
RNF151p.P13L
p.R175C
Missense
Missense
SNP
SNP
0.495
0.524
2--
RNF20p.V266I
Missense
SNP
0.424
2--
RNF213p.V2671I
Missense
SNP
0.195
2--
RNF219-
-
-
-
3Gain-
RNF26p.C383Y
Missense
SNP
0.497
2--
RNF40p.A337S
Missense
SNP
0.430
2--
ROR1p.P809S
Missense
SNP
0.480
2--
RP11-350O14.18p.Q33R
Missense
SNP
0.535
NDND-
RPGRIP1p.V1211L
Missense
SNP
0.514
2--
RPL24p.X2_splice
Splice_Site
SNP
0.449
2--
RPS6KA1p.R735L
Missense
SNP
0.483
2--
RPS6KC1p.G244R
Missense
SNP
0.514
2--
RRM1p.E586D
Missense
SNP
0.465
2--
RRP12p.A873T
Missense
SNP
0.493
2--
RYR2p.R1086Q
p.D4112N
Missense
Missense
SNP
SNP
0.333
0.480
2--
SACSp.G2041D
Missense
SNP
0.515
2--
SAE1p.E97*
Nonsense
SNP
0.467
2--
SAFBp.G104R
Missense
SNP
0.419
2--
SALL2p.Q206K
p.S20G
Missense
Missense
SNP
SNP
0.421
0.509
2--
SAMD9Lp.P165Q
Missense
SNP
0.449
2--
SARS2p.L376F
Missense
SNP
0.487
2--
SATB2p.R46K
Missense
SNP
0.537
2--
SC5Dp.A83E
Missense
SNP
0.516
2--
SCEL-
-
-
-
3Gain-
SCG5p.R181T
Missense
SNP
0.478
2--
SCGB2A2p.A110D
Missense
SNP
0.445
2--
SCGNp.X211_splice
Splice_Site
SNP
0.420
2--
SCN10Ap.F1567S
Missense
SNP
0.530
2--
SCN4Ap.C1209F
Missense
SNP
0.494
2--
SCN8Ap.T1938I
Missense
SNP
0.450
2--
SCN9Ap.Q1896K
Missense
SNP
0.527
2--
SCUBE1p.D74E
Missense
SNP
0.521
2--
SDK1p.A1809V
Missense
SNP
0.485
2--
SEC16Bp.G488D
Missense
SNP
0.449
2--
SEL1Lp.Y493C
Missense
SNP
0.550
2--
SEL1L3p.P241H
Missense
SNP
0.447
2--
SEMA3Bp.H368Y
Missense
SNP
0.420
2--
SEMA3Cp.R684M
Missense
SNP
0.475
2--
SEMA3Ep.C602F
Missense
SNP
0.530
2--
SEMA6Bp.X330_splice
Splice_Site
SNP
0.509
2--
SEMA7Ap.N595I
Missense
SNP
0.500
2--
SEPT3p.R280Q
Missense
SNP
0.509
2--
SERINC2p.C35Y
Missense
SNP
0.578
2--
SERINC5p.A278T
Missense
SNP
0.455
2--
SERPINA1p.A86T
Missense
SNP
0.512
2--
SERPINA12p.V308A
Missense
SNP
0.606
2--
SETD1Bp.R902W
Missense
SNP
0.507
2--
SFMBT2p.R691W
Missense
SNP
0.433
2--
SFPQp.D517N
Missense
SNP
0.406
2--
SFSWAPp.S282G
Missense
SNP
0.467
2--
SGK1p.C68*
Nonsense
SNP
0.480
2--
SGK494p.W195*
Nonsense
SNP
0.465
2--
SH3BP2p.Y568H
Missense
SNP
0.373
2--
SH3GL2p.K12E
Missense
SNP
0.481
2--
SHANK3p.R1598W
Missense
SNP
0.528
2--
SHISA3p.L10I
Missense
SNP
0.518
2--
SIAEp.G185S
Missense
SNP
0.465
2--
SIGLEC11p.A571V
Missense
SNP
0.520
2--
SIGLEC14p.K291N
Missense
SNP
0.320
NDND-
SIM2p.H655Y
Missense
SNP
0.455
2--
SIX5p.E45A
Missense
SNP
0.500
2--
SKOR2p.R459G
Missense
SNP
0.474
2--
SLAIN1-
-
-
-
3Gain-
SLAMF8p.R51*
Nonsense
SNP
0.478
2--
SLC10A2-
-
-
-
3Gain-
SLC10A7p.L92P
Missense
SNP
0.516
2--
SLC11A2p.A348T
Missense
SNP
0.389
2--
SLC15A1-
-
-
-
3Gain-
SLC18B1p.T165R
Missense
SNP
0.524
2--
SLC1A1p.R93C
Missense
SNP
0.511
2--
SLC22A25p.X429_splice
Splice_Site
SNP
0.488
2--
SLC27A6p.L448M
Missense
SNP
0.514
2--
SLC29A2p.H379N
Missense
SNP
0.551
2--
SLC29A3p.R299H
Missense
SNP
0.566
2--
SLC35A1p.A108T
Missense
SNP
0.415
2--
SLC38A7p.R365W
Missense
SNP
0.474
2--
SLC39A11p.A299V
Missense
SNP
0.533
2--
SLC43A3p.G243C
Missense
SNP
0.439
2--
SLC44A1-
-
-
-
2-AHNAK--SLC44A1
SLC4A3p.S453I
Missense
SNP
0.537
2--
SLC7A1p.A366T
Missense
SNP
0.189
2--
SLC9A5-
-
-
-
5Amp-
SLIT1p.G1156S
Missense
SNP
0.489
2--
SLIT2p.I527N
Missense
SNP
0.443
2--
SLITRK1-
-
-
-
4Gain-
SLITRK2p.T494M
Missense
SNP
0.434
NDND-
SLITRK5-
-
-
-
4Gain-
SLITRK6-
-
-
-
4Gain-
SNRNP200p.W1275L
Missense
SNP
0.621
2--
SNTG1p.S47C
Missense
SNP
0.508
2--
SOBPp.N423K
Missense
SNP
0.525
2--
SOGA3p.R435C
Missense
SNP
0.444
2--
SORL1p.X508_splice
Splice_Site
SNP
0.451
2--
SOX1-
-
-
-
3Gain-
SOX21-
-
-
-
3Gain-
SP1p.T503K
Missense
SNP
0.476
2--
SP5p.A183P
Missense
SNP
0.403
2--
SP6p.R211H
Missense
SNP
0.534
2--
SPACA7-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG9p.N575T
Missense
SNP
0.518
2--
SPATA13p.P25T
Missense
SNP
0.488
2--
SPATA31E1p.C641F
p.L790F
Missense
Missense
SNP
SNP
0.472
0.569
2--
SPATA9p.R119K
Missense
SNP
0.459
2--
SPATC1p.V473I
Missense
SNP
0.486
2--
SPERTp.L175P
Missense
SNP
0.479
2--
SPG11p.C2224Y
Missense
SNP
0.488
2--
SPINK5p.X95_splice
Splice_Site
SNP
0.472
2--
SPNS1p.A291P
Missense
SNP
0.607
2--
SPP2p.M10T
Missense
SNP
0.538
2--
SPPL2Bp.T542I
Missense
SNP
0.481
2--
SPPL2Cp.A235E
Missense
SNP
0.479
2--
SPRY2-
-
-
-
3Gain-
SPRYD7p.R156*
Nonsense
SNP
0.595
2--
SPTAN1p.E112K
Missense
SNP
0.496
2--
SPTBp.V445L
Missense
SNP
0.628
2--
SPTBN5p.L3107I
p.A245T
Missense
Missense
SNP
SNP
0.589
0.476
2--
SRGAP2B-
-
-
-
1Loss-
SRP72p.A650T
Missense
SNP
0.525
2--
SSC5Dp.R946K
Missense
SNP
0.509
2--
ST6GALNAC4p.D39N
Missense
SNP
0.577
2--
STAMBPp.E314*
Nonsense
SNP
0.466
2--
STARD13p.G429D
Missense
SNP
0.463
2--
STARD9p.S1600F
Missense
SNP
0.483
2--
STAT2p.E730K
Missense
SNP
0.468
2--
STAT5Ap.Y682H
Missense
SNP
0.518
2--
STC1p.A110T
Missense
SNP
0.453
2--
STK24-
-
-
-
3Gain-
STMND1p.K242T
Missense
SNP
0.487
2--
STRADAp.R194M
Missense
SNP
0.443
2--
STRNp.P380H
Missense
SNP
0.549
2--
SUGT1-
-
-
-
3Gain-
SUPT16Hp.V425A
Missense
SNP
0.357
2--
SUPT20Hp.Q730H
Missense
SNP
0.467
2--
SUSD5p.A66T
Missense
SNP
0.103
2--
SUSD6p.L146P
Missense
SNP
0.527
2--
SYN3p.L59F
Missense
SNP
0.489
2--
SYNE1p.Q7399R
p.G531E
Missense
Missense
SNP
SNP
0.455
0.594
2--
SYNE2p.P3923H
Missense
SNP
0.515
2--
SYNJ1p.V1386I
Missense
SNP
0.482
2--
SYNJ2p.R1090H
Missense
SNP
0.466
2--
SYNPOp.S41N
Missense
SNP
0.505
2--
SYT1p.K214N
Missense
SNP
0.487
2--
SYT17p.P363Q
Missense
SNP
0.420
2--
SZT2p.G422R
Missense
SNP
0.488
2--
TAF2p.V816A
Missense
SNP
0.474
2--
TANC2p.L1146F
Missense
SNP
0.500
2--
TANGO6p.A6T
Missense
SNP
0.396
2--
TAOK1p.R971W
Missense
SNP
0.474
2--
TAOK2p.R936K
Missense
SNP
0.435
2--
TAPBPp.L124P
Missense
SNP
0.489
2--
TAZp.K135T
Missense
SNP
0.467
NDND-
TBC1D22Ap.D376N
Missense
SNP
0.502
2--
TBC1D31p.Q63*
Nonsense
SNP
0.465
2--
TBC1D4p.S5R
Missense
SNP
0.321
3Gain-
TBCDp.A146T
Missense
SNP
0.467
2--
TBCKp.V537M
Missense
SNP
0.500
2--
TBX10p.L9F
Missense
SNP
0.442
2--
TBX18p.M606K
Missense
SNP
0.491
2--
TBX6p.H352Y
Missense
SNP
0.474
2--
TCF4p.Q508*
Nonsense
SNP
0.562
2--
TDRD3-
-
-
-
3Gain-
TENM3p.R22C
Missense
SNP
0.422
2--
TESK2p.P548Q
Missense
SNP
0.557
2--
TESMINp.E2*
Nonsense
SNP
0.677
2--
TEX14p.X1126_splice
p.I154N
Splice_Site
Missense
SNP
SNP
0.217
0.463
2--
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX38p.L8V
Missense
SNP
0.435
2--
TFDP1-
-
-
-
3Gain-
TGDS-
-
-
-
3Gain-
TGFBR2p.R553H
Missense
SNP
0.543
2--
THG1Lp.T115N
Missense
SNP
0.490
2--
THSD1-
-
-
-
3Gain-
TIAM1p.G484E
Missense
SNP
0.471
2--
TINAGp.C284Y
Missense
SNP
0.455
2--
TINF2p.A77T
Missense
SNP
0.446
2--
TJP1p.R201Q
Missense
SNP
0.459
2--
TKFCp.G478S
Missense
SNP
0.203
2--
TKTL2p.R475Q
Missense
SNP
0.486
2--
TLCD1p.P236T
Missense
SNP
0.477
2--
TLDC1p.R7H
Missense
SNP
0.411
2--
TLR6p.S436P
Missense
SNP
0.502
2--
TM4SF18p.R4G
Missense
SNP
0.491
2--
TM9SF2-
-
-
-
3Gain-
TM9SF3p.L89S
Missense
SNP
0.452
2--
TMCO3-
-
-
-
3Gain-
TMEM116p.A56T
Missense
SNP
0.446
2--
TMEM132Bp.G839C
Missense
SNP
0.472
2--
TMEM134p.I156T
Missense
SNP
0.702
2--
TMEM136p.C46Y
Missense
SNP
0.476
2--
TMEM178Ap.P72L
Missense
SNP
0.536
2--
TMEM200Cp.P490L
p.R364H
Missense
Missense
SNP
SNP
0.641
1.000
2--
TMEM208-
-
-
-
5Amp-
TMEM236p.R180K
Missense
SNP
0.390
2--
TMEM255B-
-
-
-
3Gain-
TMEM47p.A167V
Missense
SNP
0.510
NDND-
TMEM52p.R128W
Missense
SNP
0.533
2--
TMEM59Lp.L12P
Missense
SNP
0.320
2--
TMPRSS11Fp.G187*
Nonsense
SNP
0.371
2--
TMTC4p.Q390R
Missense
SNP
0.333
3Gain-
TNCp.R2033C
p.E365A
Missense
Missense
SNP
SNP
0.391
0.477
2--
TNFRSF9p.A10T
Missense
SNP
0.550
2--
TNFSF13B-
-
-
-
3Gain-
TNK2p.R129K
Missense
SNP
0.491
2--
TNRp.I51V
Missense
SNP
0.479
2--
TNS3p.E1287G
Missense
SNP
0.532
2--
TNS4p.A525V
Missense
SNP
0.422
2--
TNXBp.G641V
Missense
SNP
0.524
2--
TOP1p.E272G
Missense
SNP
0.550
2--
TOR2Ap.D247G
Missense
SNP
0.414
2--
TP53I11p.T123M
Missense
SNP
0.519
2--
TP63p.M307I
Missense
SNP
1.000
2--
TPBGLp.P129L
Missense
SNP
0.610
2--
TPP2-
-
-
-
3Gain-
TPRp.R724C
Missense
SNP
0.444
2--
TRABD2Bp.E401D
Missense
SNP
0.500
2--
TRADDp.D306V
Missense
SNP
0.231
5Amp-
TRAF2p.F56L
Missense
SNP
0.333
2--
TRAK2p.A603V
Missense
SNP
0.498
2--
TRAPPC2Bp.S4G
Missense
SNP
0.413
2--
TRBV4-2p.A9V
Missense
SNP
0.304
NDND-
TRIM10p.L174F
Missense
SNP
0.437
2--
TRIM32p.G383V
Missense
SNP
0.436
2--
TRIM33p.C233Y
Missense
SNP
0.467
2--
TRIM42p.W709L
Missense
SNP
0.424
2--
TRIP12p.S1039N
Missense
SNP
0.341
2--
TRMT10Cp.S273P
Missense
SNP
0.504
2--
TRMT6p.R395G
Missense
SNP
0.502
2--
TRMT61Bp.P344L
Missense
SNP
0.388
2--
TRPM1p.L440M
Missense
SNP
0.531
2--
TSFMp.V168L
Missense
SNP
0.457
2--
TTC21Bp.M588V
Missense
SNP
0.462
2--
TTC24p.X347_splice
Splice_Site
SNP
0.481
2--
TTC28p.R2474T
p.G2049C
p.S1279N
Missense
Missense
Missense
SNP
SNP
SNP
0.525
0.509
0.414
2--
TTC34p.R407K
Missense
SNP
0.524
2--
TTC39Ap.T477M
Missense
SNP
0.489
2--
TTC6p.A195T
Missense
SNP
0.472
2--
TTLL11p.V496F
Missense
SNP
0.491
2--
TTLL3p.R498H
Missense
SNP
0.483
2--
TTNp.W32421*
p.D19698Y
p.H8370Y
Nonsense
Missense
Missense
SNP
SNP
SNP
0.466
0.433
0.465
2--
TUBGCP2p.P918A
Missense
SNP
0.511
2--
TUBGCP3-
-
-
-
3Gain-
TULP4p.Q1273*
Nonsense
SNP
0.496
2--
TYK2p.V1048M
Missense
SNP
0.547
2--
TYRp.A316V
Missense
SNP
0.141
2--
UBAC2-
-
-
-
3Gain-
UBE3Cp.G6S
p.P674S
Missense
Missense
SNP
SNP
0.461
0.430
2--
UBR3p.L586F
Missense
SNP
0.543
2--
UBR4p.G2929*
Nonsense
SNP
0.453
2--
UCHL3-
-
-
-
3Gain-
UCK1p.S11N
Missense
SNP
0.450
2--
UGGT2-
-
-
-
3Gain-
UGT2B11p.A162V
Missense
SNP
0.539
2--
UGT3A1p.P451L
Missense
SNP
0.529
2--
UHRF1BP1Lp.G1208V
Missense
SNP
0.429
2--
UPF3A-
-
-
-
3Gain-
USB1p.H149N
Missense
SNP
0.522
2--
USH2Ap.Q4402K
Missense
SNP
0.607
2--
USP17L1-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP28p.R141C
Missense
SNP
0.530
2--
USP36p.N398I
Missense
SNP
0.454
2--
USP6p.R398W
Missense
SNP
0.250
2--
USP9Xp.M877I
Missense
SNP
0.548
NDND-
UTS2Rp.L299M
Missense
SNP
0.424
2--
UVSSAp.Q84K
Missense
SNP
0.510
2--
VCPIP1p.Q645*
Nonsense
SNP
0.450
2--
VEGFCp.G35E
Missense
SNP
0.453
2--
VGLL1p.P192S
Missense
SNP
0.532
NDND-
VIPR1p.A30V
Missense
SNP
0.473
2--
VPS13Bp.L1503I
Missense
SNP
0.535
2--
VPS13Dp.R2272I
Missense
SNP
0.468
2--
VPS33Ap.S350W
Missense
SNP
0.486
2--
VPS36-
-
-
-
3Gain-
VSTM2Ap.A150V
Missense
SNP
0.420
2--
WDCPp.I363M
Missense
SNP
0.582
2--
WDFY3p.G373S
Missense
SNP
0.508
2--
WDFY4p.V1357M
Missense
SNP
0.377
2--
WDR11p.K61E
Missense
SNP
0.382
2--
WEE1p.R319K
Missense
SNP
0.563
2--
WFS1p.L130V
Missense
SNP
0.425
2--
WNK1p.R81S
p.A2229E
Missense
Missense
SNP
SNP
0.504
0.433
2--
WRNp.S467N
Missense
SNP
0.409
2--
XAGE2p.P40L
Missense
SNP
0.380
NDND-
XKR4p.D16Y
Missense
SNP
0.475
2--
XPO6p.V292I
Missense
SNP
0.503
2--
YLPM1p.P1804Q
Missense
DNP
0.515
2--
ZBTB22p.M421I
Missense
SNP
0.440
2--
ZBTB25p.A181T
Missense
SNP
0.484
2--
ZBTB38p.G403*
Nonsense
SNP
0.441
2--
ZBTB49p.C369*
Nonsense
SNP
0.512
2--
ZC3H12Ap.P463Q
Missense
SNP
0.534
2--
ZC3H7Ap.A422T
Missense
SNP
0.433
2--
ZCCHC7p.M177I
Missense
SNP
0.517
2--
ZEB1p.N477K
Missense
SNP
0.487
2--
ZFATp.Q645H
Missense
SNP
0.466
2--
ZFP36p.S52G
Missense
SNP
0.439
2--
ZFP36L2p.S97F
Missense
SNP
0.473
2--
ZFP82p.P197T
Missense
SNP
0.419
2--
ZFPM2p.G547E
Missense
SNP
0.108
2--
ZFYVE9p.R1143G
Missense
SNP
0.471
2--
ZHX2p.P244S
Missense
SNP
0.542
2--
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZIK1p.S277N
Missense
SNP
0.482
2--
ZKSCAN7-
-
-
-
1Loss-
ZMYM2p.M458T
Missense
SNP
0.479
2--
ZNF112p.V47L
Missense
SNP
0.551
2--
ZNF133p.A353T
Missense
SNP
0.498
2--
ZNF140p.R339H
Missense
SNP
0.505
2--
ZNF195p.N219D
Missense
SNP
0.585
2--
ZNF197-
-
-
-
1Loss-
ZNF223p.L421F
Missense
SNP
0.490
2--
ZNF268p.L403F
Missense
SNP
0.391
2--
ZNF324p.G138R
Missense
SNP
0.458
2--
ZNF35-
-
-
-
1Loss-
ZNF383p.E18D
Missense
SNP
0.464
2--
ZNF385Dp.T158M
Missense
SNP
0.581
2--
ZNF391p.Q210R
Missense
SNP
0.493
2--
ZNF41p.E24*
Nonsense
SNP
0.490
NDND-
ZNF44p.R261C
p.A150V
Missense
Missense
SNP
SNP
0.463
0.438
2--
ZNF469p.P3737L
Missense
SNP
0.495
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF513p.E203K
Missense
SNP
0.484
2--
ZNF521p.P447H
Missense
SNP
0.471
2--
ZNF528p.G99R
Missense
SNP
0.512
NDND-
ZNF541p.P464S
Missense
SNP
0.519
2--
ZNF547p.C329R
Missense
SNP
0.453
2--
ZNF558p.T308A
Missense
SNP
0.461
2--
ZNF589p.T327I
Missense
SNP
0.551
2--
ZNF600p.K561T
Missense
SNP
0.431
NDND-
ZNF611p.C276F
Missense
SNP
0.463
NDND-
ZNF626p.P87Q
Missense
SNP
0.345
2--
ZNF646p.E432G
Missense
SNP
0.441
2--
ZNF660-
-
-
-
1Loss-
ZNF746p.V564M
Missense
SNP
0.502
2--
ZNF777p.A687V
Missense
SNP
0.442
2--
ZNF792p.R550K
p.H450N
Missense
Missense
SNP
SNP
0.490
0.469
2--
ZNF804Ap.A184T
Missense
SNP
0.480
2--
ZNF83p.K290R
Missense
SNP
0.857
NDND-
ZNF831p.A75P
Missense
SNP
0.557
2--
ZNF835p.A535T
Missense
SNP
0.495
2--
ZNF837p.H493N
Missense
SNP
0.385
2--
ZNF852-
-
-
-
1Loss-
ZSCAN10p.P466L
Missense
SNP
0.468
2--
ZSCAN5Ap.P23R
Missense
SNP
0.484
2--