PDMR-275155~148-R~T16TJ3UK1-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARD-
-
-
-
3Gain-
AASDHPPT-
-
-
-
1Loss-
ABATp.A304T
Missense
SNP
0.359
2--
ABCA5p.A1145V
Missense
SNP
0.433
2--
ABCA6p.W339*
Nonsense
SNP
0.506
2--
ABCA7p.X194_splice
Splice_Site
SNP
1.000
2--
ABCB1p.R1279C
Missense
SNP
0.558
2--
ABCC10p.G944Wfs*88
Frame_Shift_Ins
INS
0.328
2--
ABCC11p.S1075F
Missense
SNP
0.716
2--
ABCC12p.M401R
Missense
SNP
0.547
2--
ABCC3p.P623S
Missense
SNP
0.421
2--
ABCC4-
-
-
-
3Gain-
ABCC5p.S1171F
Missense
SNP
0.320
2--
ABCC8p.I1377T
p.G561S
Missense
Missense
SNP
SNP
0.197
0.408
2--
ABCC9p.E668D
Missense
SNP
0.498
2--
ABCG1p.A539T
Missense
SNP
0.473
2--
ABCG4-
-
-
-
1Loss-
ABHD13-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD3p.V201A
Missense
SNP
0.469
2--
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABLIM2p.D120Tfs*3
Frame_Shift_Del
DEL
0.421
2--
ABRA-
-
-
-
3Gain-
AC001226.2-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC091167.1-
-
-
-
NDNDAC091167.1--LAMC2
AC092042.3-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC126283.2-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACACAp.P663H
Missense
SNP
0.414
2--
ACAD10p.L102Yfs*12
p.R588C
p.G896W
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.412
0.464
0.506
2--
ACAD8-
-
-
-
1Loss-
ACANp.P36L
p.G1870E
Missense
Missense
SNP
SNP
0.460
0.505
2--
ACAT1-
-
-
-
1Loss-
ACBD7-
-
-
-
3Gain-
ACER2-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACMSDp.K19Rfs*22
Frame_Shift_Del
DEL
0.566
2--
ACO1-
-
-
-
1Loss-
ACOD1-
-
-
-
3Gain-
ACOT12p.R457Q
Missense
SNP
0.520
2--
ACOX2-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSM2Ap.E347K
Missense
SNP
0.500
2--
ACSM3p.E564K
Missense
SNP
0.596
2--
ACSS2p.R202Q
p.F507I
Missense
Missense
SNP
SNP
0.393
0.454
2--
ACTC1p.L348M
p.W342*
Missense
Nonsense
SNP
SNP
0.602
0.414
2--
ACTN3p.E558K
Missense
SNP
0.463
2--
ACTN4p.D874Tfs*44
Frame_Shift_Del
DEL
0.475
2--
ACTR5p.P266S
Missense
SNP
0.503
2--
ACTR8-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADALp.R61K
p.G204E
Missense
Missense
SNP
SNP
0.457
0.387
2--
ADAM12p.G435E
Missense
SNP
0.496
2--
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM29p.S115F
p.R311C
Missense
Missense
SNP
SNP
0.544
0.490
2--
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS10p.Q930*
Nonsense
SNP
0.472
2--
ADAMTS12-
-
-
-
4Gain-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
4Gain-
ADAMTS18p.C1139Y
Missense
SNP
0.515
2--
ADAMTS3p.E912K
Missense
SNP
0.423
2--
ADAMTS5p.Q768*
p.F589S
Nonsense
Missense
SNP
SNP
0.991
0.354
2--
ADAMTS6p.H22Y
Missense
SNP
0.477
2--
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2p.D564G
p.E621K
Missense
Missense
SNP
SNP
0.398
0.494
2--
ADARB2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY10p.E1490Gfs*53
Frame_Shift_Ins
INS
0.322
2--
ADCY2-
-
-
-
4Gain-
ADCY7p.R206Q
Missense
SNP
0.457
2--
ADCY8p.L650F
Missense
SNP
0.240
3Gain-
ADGRA1p.P126S
Missense
SNP
0.515
2--
ADGRA2-
-
-
-
1Loss-
ADGRA3p.P1087S
Missense
SNP
0.525
2--
ADGRB1-
-
-
-
3Gain-
ADGRB3p.S13F
p.L1200F
p.R1452W
Missense
Missense
Missense
SNP
SNP
SNP
0.452
0.600
0.401
2--
ADGRE1p.I333T
Missense
SNP
0.515
2--
ADGRF5p.D495N
Missense
SNP
0.491
2--
ADGRG4p.S1689F
Missense
SNP
1.000
NDND-
ADGRL1p.P1309Lfs*224
Frame_Shift_Del
DEL
0.433
2--
ADGRV1p.P2024S
Missense
SNP
0.388
2--
ADH1Bp.R313H
Missense
SNP
0.573
2--
ADHFE1-
-
-
-
3Gain-
ADPRHL1-
-
-
-
3Gain-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
AEBP2p.P36L
Missense
SNP
0.440
2--
AFF2p.K629Nfs*126
Frame_Shift_Del
DEL
0.494
NDND-
AFMp.L16Ffs*3
p.T82M
Frame_Shift_Ins
Missense
INS
SNP
0.295
0.072
2--
AGAP14Pp.T407A
Missense
SNP
0.517
NDND-
AGO2-
-
-
-
3Gain-
AGPAT5-
-
-
-
1Loss-
AGTRAPp.P16S
Missense
SNP
0.491
2--
AGXT2-
-
-
-
4Gain-
AHI1p.E76_T78delinsA
In_Frame_Del
DEL
0.315
2--
AHNAK-
-
-
-
2-AL139099.4--AHNAK
AHRR-
-
-
-
3Gain-
AIM1Lp.R1181H
Missense
SNP
0.391
NDND-
AIPp.T231M
Missense
SNP
0.508
2--
AK3-
-
-
-
1Loss-
AK7p.P679L
Missense
SNP
0.483
2--
AK8p.P479S
Missense
SNP
1.000
2--
AKAP11-
-
-
-
3Gain-
AKAP6p.L11*
p.G1270Dfs*36
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.432
0.106
2--
AKAP7p.K79Rfs*21
Frame_Shift_Del
DEL
0.375
2--
AKNAp.G844C
Missense
SNP
0.299
2--
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AL035078.4-
-
-
-
3Gain-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139099.4-
-
-
-
NDNDAL139099.4--AHNAK
AL157392.5-
-
-
-
3Gain-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162377.3-
-
-
-
3Gain-
AL355075.4-
-
-
-
NDNDAL355075.4--SNORA73A
AL355075.4--SNHG3
AL359736.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL592490.1-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH1L2p.L300F
Missense
SNP
0.469
2--
ALDH2p.C320W
Missense
SNP
0.385
2--
ALG11-
-
-
-
3Gain-
ALG5-
-
-
-
3Gain-
ALG9-
-
-
-
1Loss-
ALKp.K1109N
Missense
SNP
0.474
2--
ALKAL1-
-
-
-
3Gain-
ALKBH8-
-
-
-
1Loss-
ALMS1p.G1199S
Missense
SNP
0.529
2--
ALOX5AP-
-
-
-
3Gain-
ALOXE3p.G750R
Missense
SNP
0.474
2--
ALPK2p.A89V
Missense
SNP
0.491
2--
ALS2CL-
-
-
-
1Loss-
ALS2CR11p.V1745*
p.M1339T
Frame_Shift_Del
Missense
DEL
SNP
0.461
0.462
NDND-
ALS2CR12p.K261R
Missense
SNP
0.246
2--
AMACR-
-
-
-
4Gain-
AMBRA1p.E468K
Missense
SNP
0.526
2--
AMER2-
-
-
-
3Gain-
AMIGO3-
-
-
-
1Loss-
AMTp.R371H
Missense
SNP
0.994
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1Cp.X334_splice
Splice_Site
SNP
0.116
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
ANAPC5p.L114Cfs*16
Frame_Shift_Del
DEL
0.651
2--
ANGPT1p.N191Tfs*4
Frame_Shift_Del
DEL
0.323
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPT4p.G193S
Missense
SNP
0.538
2--
ANGPTL2p.P254Lfs*41
Frame_Shift_Del
DEL
0.152
2--
ANK1-
-
-
-
1Loss-
ANK3p.I2751Yfs*21
p.Y861C
Frame_Shift_Del
Missense
DEL
SNP
0.438
0.447
2--
ANKH-
-
-
-
4Gain-
ANKK1-
-
-
-
1Loss-
ANKRA2p.R137K
Missense
SNP
0.498
2--
ANKRD10-
-
-
-
3Gain-
ANKRD11p.P1747L
Missense
SNP
0.412
2--
ANKRD16-
-
-
-
3Gain-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD33B-
-
-
-
4Gain-
ANKRD35p.E876K
Missense
SNP
0.606
2--
ANKRD36B-
-
-
-
1Loss-
ANKRD36Cp.A623V
Missense
SNP
0.500
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD50p.R236Q
Missense
SNP
0.439
2--
ANKRD63p.G165N
Missense
MNP
0.588
2--
ANLNp.E151K
Missense
SNP
0.368
2--
ANO10-
-
-
-
1Loss-
ANO2p.G966E
Missense
SNP
0.486
2--
ANO5p.N64Ifs*27
Frame_Shift_Del
DEL
0.537
2--
ANO6p.X24_splice
Splice_Site
SNP
0.404
2--
ANXA13-
-
-
-
3Gain-
ANXA2R-
-
-
-
4Gain-
AOC1p.H598Y
Missense
SNP
0.444
2--
AOX1p.G120V
Missense
SNP
0.071
2--
AP000646.1-
-
-
-
1Loss-
AP000769.1p.S6L
Missense
SNP
0.475
NDND-
AP001267.5-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1S1p.D122Mfs*11
Frame_Shift_Del
DEL
0.933
2--
AP3M2-
-
-
-
1Loss-
AP5M1p.Y84F
Missense
SNP
0.483
2--
APBA1p.S795R
Missense
SNP
0.534
2--
APBB1p.R451C
Missense
SNP
0.513
2--
APBB1IPp.R485K
Missense
SNP
0.520
2--
APCp.P865S
Missense
SNP
0.436
2--
APEH-
-
-
-
1Loss-
APITD1-CORTp.Q142Pfs*29
Frame_Shift_Ins
INS
0.262
NDND-
APLP1p.S339F
p.R446C
Missense
Missense
SNP
SNP
0.480
0.645
2--
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APPBP2p.E466K
Missense
SNP
0.582
2--
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
ARp.D696N
Missense
SNP
0.925
NDND-
ARAP1p.R1160C
Missense
SNP
0.462
2--
ARC-
-
-
-
3Gain-
ARCN1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGAP2p.F92Sfs*9
Frame_Shift_Del
DEL
0.445
2--
ARFGEF1-
-
-
-
3Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP20-
-
-
-
1Loss-
ARHGAP24p.E705K
Missense
SNP
0.483
2--
ARHGAP32-
-
-
-
1Loss-
ARHGAP33p.R551H
Missense
SNP
0.476
2--
ARHGAP35p.S839L
Missense
SNP
0.487
2--
ARHGAP36p.S212F
Missense
SNP
1.000
NDND-
ARHGAP39p.S366Rfs*18
Frame_Shift_Del
DEL
0.297
3Gain-
ARHGEF10-
-
-
-
1Loss-
ARHGEF10Lp.G552R
Missense
SNP
0.488
2--
ARHGEF12-
-
-
-
1Loss-
ARHGEF15p.S630F
Missense
SNP
0.557
2--
ARHGEF3-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF7-
-
-
-
3Gain-
ARID3C-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC3p.G836R
Missense
SNP
0.514
2--
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB14-
-
-
-
1Loss-
ASB17p.N177Tfs*7
Frame_Shift_Del
DEL
0.450
2--
ASB2p.C213G
Missense
SNP
0.512
2--
ASH1Lp.T2895Qfs*44
p.H2315R
p.S15F
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.393
0.435
0.480
2--
ASH2L-
-
-
-
1Loss-
ASIC4p.E387K
Missense
SNP
0.500
2--
ASPH-
-
-
-
3Gain-
ASPMp.A3335V
Missense
SNP
0.488
2--
ASTN1p.L1104F
p.G76R
Missense
Missense
SNP
SNP
0.382
0.520
2--
ASXL3p.G587I
p.E762K
p.S1221F
p.P1731S
Missense
Missense
Missense
Missense
MNP
SNP
SNP
SNP
0.482
0.577
0.454
0.408
2--
ATAD2-
-
-
-
3Gain-
ATAD3Ap.P330L
Missense
SNP
0.574
2--
ATF4p.M285Nfs*10
Frame_Shift_Ins
INS
0.138
2--
ATF7IPp.P1233H
Missense
SNP
0.367
2--
ATG2Ap.P865S
Missense
SNP
0.484
2--
ATG4Cp.E441K
Missense
SNP
0.479
2--
ATG5p.D262N
Missense
SNP
0.446
2--
ATG7-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP12A-
-
-
-
3Gain-
ATP2A1p.R822Gfs*49
Frame_Shift_Del
DEL
0.841
2--
ATP2A3p.N796S
Missense
SNP
0.485
2--
ATP2B1p.D756G
Missense
SNP
0.361
2--
ATP2B2-
-
-
-
1Loss-
ATP4Bp.F285L
Missense
SNP
0.804
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2p.G170R
Missense
SNP
0.440
2--
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E2p.K10Sfs*6
Frame_Shift_Del
DEL
0.373
2--
ATP6V1G1p.E39del
In_Frame_Del
DEL
1.000
2--
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
3Gain-
ATP8A1p.R735W
Missense
SNP
0.448
2--
ATP8A2p.G160D
Missense
SNP
0.622
3Gain-
ATP9Bp.C167W
Missense
SNP
0.314
2--
ATRIP-
-
-
-
1Loss-
ATRNL1p.Q881*
Nonsense
SNP
0.468
2--
ATXN10p.S448F
Missense
SNP
0.500
2--
ATXN7-
-
-
-
1Loss-
AUTS2p.P1213L
Missense
SNP
0.503
2--
AXDND1p.E791G
Missense
SNP
0.495
2--
AXLp.P337Lfs*29
Frame_Shift_Del
DEL
0.135
2--
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
B3GALT6p.R197Afs*81
Frame_Shift_Del
DEL
0.438
2--
B3GAT1-
-
-
-
1Loss-
B3GLCTp.S68F
Missense
SNP
0.659
3Gain-
B4GALNT3p.Q917Sfs*9
Frame_Shift_Del
DEL
0.443
2--
B4GALT1-
-
-
-
1Loss-
B4GALT5p.A62S
Missense
SNP
0.455
2--
BAALC-
-
-
-
3Gain-
BAATp.M1?
Frame_Shift_Del
DEL
0.515
2--
BACE1-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAHCC1p.H835Tfs*139
Frame_Shift_Del
DEL
0.478
2--
BAP1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
4Gain-
BAZ1Ap.G578E
Missense
SNP
0.502
2--
BCHEp.T343Pfs*16
Frame_Shift_Del
DEL
0.078
2--
BCKDHAp.S89P
Missense
SNP
0.667
2--
BCL11Bp.S765L
Missense
SNP
0.433
2--
BCL2-
-
-
-
1Loss-
BCL3p.K361Efs*16
p.L76P
Frame_Shift_Ins
Missense
INS
SNP
0.328
0.527
2--
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BEND7-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE41p.R17G
Missense
SNP
0.507
2--
BIN3-
-
-
-
1Loss-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLMp.V301Cfs*20
Frame_Shift_Ins
INS
0.307
2--
BMP1-
-
-
-
1Loss-
BMP15p.S280F
Missense
SNP
1.000
NDND-
BMP5p.E357K
Missense
SNP
0.530
2--
BMP7p.A395V
Missense
SNP
0.455
2--
BNC2-
-
-
-
1Loss-
BNIP2p.P72S
Missense
SNP
0.364
2--
BNIP3L-
-
-
-
1Loss-
BOLLp.G261E
Missense
SNP
0.484
2--
BORA-
-
-
-
3Gain-
BPIp.L458F
Missense
SNP
0.510
2--
BPIFB3p.T473I
Missense
SNP
0.408
2--
BRCA2p.H334Y
Missense
SNP
0.644
3Gain-
BRD4p.P1175H
Missense
SNP
0.586
2--
BRD9-
-
-
-
4Gain-
BRF1p.S293Rfs*11
Frame_Shift_Del
DEL
0.441
2--
BRF2-
-
-
-
1Loss-
BRIX1-
-
-
-
4Gain-
BRK1-
-
-
-
1Loss-
BRPF1p.M745Wfs*48
Frame_Shift_Del
DEL
0.956
1Loss-
BRPF3p.A1082V
Missense
SNP
0.494
2--
BRSK2p.R401Gfs*4
Frame_Shift_Del
DEL
0.453
2--
BRWD3p.L1332F
Missense
SNP
1.000
NDND-
BSN-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTCp.P167S
Missense
SNP
0.413
2--
BTD-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTN2A1p.F463del
p.I115F
In_Frame_Del
Missense
DEL
SNP
0.408
0.491
2--
BTRCp.R390C
Missense
SNP
0.448
2--
BUD13-
-
-
-
1Loss-
C10orf120p.K271R
Missense
SNP
0.457
2--
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C12orf42p.R19K
Missense
SNP
0.553
2--
C16orf71p.E264*
Frame_Shift_Ins
INS
0.346
2--
C16orf72p.E41Sfs*103
Frame_Shift_Del
DEL
0.470
2--
C1orf141p.N225Ifs*23
Frame_Shift_Del
DEL
0.407
2--
C1orf167p.A1067Sfs*55
Frame_Shift_Ins
INS
0.332
2--
C1orf228p.V399A
Missense
SNP
0.442
NDND-
C1QAp.P29L
Missense
MNP
0.663
2--
C1QL3-
-
-
-
3Gain-
C1QTNF3p.Y236H
p.S233L
Missense
Missense
SNP
SNP
0.232
0.759
4Gain-
C1QTNF3-AMACR-
-
-
-
4Gain-
C1QTNF4p.G168E
Missense
SNP
0.561
2--
C1QTNF5-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD3p.K654Sfs*43
p.A565V
Frame_Shift_Del
Missense
DEL
SNP
0.467
0.520
2--
C3p.G1394E
Missense
SNP
0.388
2--
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4Bp.V867I
Missense
SNP
1.000
2--
C4BPBp.W184*
Nonsense
SNP
0.457
2--
C4orf26p.S131F
Missense
SNP
0.482
NDND-
C5orf22-
-
-
-
4Gain-
C5orf34p.T622Pfs*87
Frame_Shift_Del
DEL
0.184
4Gain-
C5orf38-
-
-
-
4Gain-
C5orf49-
-
-
-
4Gain-
C5orf51p.X69_splice
Splice_Site
SNP
0.230
4Gain-
C6p.H830Y
p.R145G
Missense
Missense
SNP
SNP
0.753
0.200
4Gain-
C6orf118p.E443K
Missense
SNP
0.344
2--
C7-
-
-
-
4Gain-
C7orf31p.M211I
Missense
SNP
0.548
2--
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9-
-
-
-
4Gain-
C9orf131p.G579E
Missense
SNP
1.000
1Loss-
C9orf135p.D63N
Missense
SNP
0.458
2--
C9orf24-
-
-
-
1Loss-
C9orf3-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CAB39L-
-
-
-
3Gain-
CABIN1p.S1323A
Missense
SNP
0.358
2--
CABS1p.S37Ifs*17
p.D84N
Frame_Shift_Ins
Missense
INS
SNP
0.327
0.396
2--
CACNA1Ap.D997Tfs*72
Frame_Shift_Del
DEL
0.093
2--
CACNA1Cp.X780_splice
Splice_Site
SNP
0.546
2--
CACNA1D-
-
-
-
1Loss-
CACNA1Hp.A2240V
Missense
SNP
0.419
2--
CACNA1Ip.T1279I
Missense
SNP
0.200
2--
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB2p.G193E
Missense
SNP
0.310
3Gain-
CACNG4p.I137V
Missense
SNP
0.363
2--
CACNG6p.P209Rfs*21
Frame_Shift_Del
DEL
0.429
2--
CACYBPp.T226A
Missense
SNP
0.530
2--
CADp.H2052R
Missense
SNP
0.471
2--
CADM1-
-
-
-
1Loss-
CADPSp.D806Ifs*10
Frame_Shift_Del
DEL
1.000
1Loss-
CADPS2p.M1211I
Missense
SNP
0.458
2--
CALB1-
-
-
-
3Gain-
CALCRp.P394S
Missense
SNP
0.436
2--
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA2p.P889Lfs*9
Frame_Shift_Del
DEL
0.449
2--
CAND2-
-
-
-
1Loss-
CANT1p.R300H
Missense
SNP
0.467
2--
CAPN1p.E523*
Nonsense
SNP
0.523
2--
CAPN6p.R444C
Missense
SNP
1.000
NDND-
CAPN7-
-
-
-
1Loss-
CAPSL-
-
-
-
4Gain-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD6-
-
-
-
4Gain-
CARMIL2p.F67I
Missense
SNP
0.488
2--
CARS2-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP6-
-
-
-
3Gain-
CATSPER1p.P93S
Missense
SNP
0.493
2--
CATSPER3p.F66Lfs*10
Frame_Shift_Del
DEL
0.534
2--
CATSPERBp.Q723*
Nonsense
SNP
0.426
2--
CAV3-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBR1p.K146N
Missense
SNP
0.454
2--
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
1Loss-
CBWD5-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CBX2p.R161W
Missense
SNP
0.532
2--
CBX4p.P458S
Missense
SNP
0.444
2--
CC2D1Ap.A814T
Missense
SNP
0.535
2--
CC2D2Ap.P612L
p.E631K
Missense
Missense
SNP
SNP
0.498
0.514
2--
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC112p.S439F
Missense
SNP
0.505
2--
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
3Gain-
CCDC127p.P8S
Missense
SNP
0.761
3Gain-
CCDC129p.G203E
Missense
SNP
0.540
NDND-
CCDC13-
-
-
-
1Loss-
CCDC134p.F95L
Missense
SNP
0.337
2--
CCDC138-
-
-
-
3Gain-
CCDC148p.I418*
Frame_Shift_Del
DEL
0.569
2--
CCDC15-
-
-
-
1Loss-
CCDC152p.R251H
p.R253Q
Missense
Missense
SNP
SNP
0.678
0.116
4Gain-
CCDC153-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168p.E6232K
p.R3382K
Missense
Missense
SNP
SNP
0.339
0.611
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC175p.M765I
Missense
SNP
0.462
2--
CCDC188p.G114K
Missense
MNP
0.512
2--
CCDC25-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC36-
-
-
-
1Loss-
CCDC47p.R443*
Nonsense
SNP
0.478
2--
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC70-
-
-
-
3Gain-
CCDC71-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC80p.K553Rfs*2
Frame_Shift_Del
DEL
0.330
2--
CCDC84-
-
-
-
1Loss-
CCDC88Cp.S1852Afs*213
Frame_Shift_Del
DEL
0.425
2--
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKBRp.L344Cfs*35
Frame_Shift_Del
DEL
0.392
2--
CCL19-
-
-
-
1Loss-
CCL20p.S28Kfs*4
Frame_Shift_Ins
INS
0.254
2--
CCL21-
-
-
-
1Loss-
CCL24p.A61E
Missense
SNP
0.056
2--
CCL27-
-
-
-
1Loss-
CCL28-
-
-
-
4Gain-
CCNA1-
-
-
-
3Gain-
CCNB3p.R1083K
Missense
SNP
0.974
NDND-
CCNE2-
-
-
-
3Gain-
CCNT1p.S715P
Missense
SNP
0.458
2--
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT5-
-
-
-
4Gain-
CD1Dp.E20*
Nonsense
SNP
0.450
2--
CD274-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAPp.N220Ifs*4
Frame_Shift_Del
DEL
0.497
2--
CD3G-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CDADC1-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14Ap.X173_splice
Splice_Site
SNP
0.316
2--
CDC16-
-
-
-
3Gain-
CDC25A-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC73p.P113S
Missense
SNP
0.504
2--
CDCA2-
-
-
-
1Loss-
CDCA4p.E230K
Missense
SNP
0.373
2--
CDCP1-
-
-
-
1Loss-
CDH10p.S527Qfs*14
Frame_Shift_Ins
INS
0.108
4Gain-
CDH11p.X548_splice
Splice_Site
SNP
0.489
2--
CDH12p.D429V
Missense
SNP
0.268
4Gain-
CDH15p.H513Tfs*9
Frame_Shift_Del
DEL
0.546
2--
CDH17-
-
-
-
3Gain-
CDH18-
-
-
-
4Gain-
CDH2p.E861K
Missense
SNP
0.527
2--
CDH20-
-
-
-
1Loss-
CDH23p.N536S
Missense
SNP
0.446
2--
CDH4p.G849E
Missense
SNP
0.617
2--
CDH6p.Y419*
Nonsense
SNP
0.243
4Gain-
CDH7p.L629Ffs*9
Frame_Shift_Ins
INS
0.237
2--
CDH9p.A485T
Missense
SNP
0.714
4Gain-
CDHR2p.R383Afs*51
Frame_Shift_Del
DEL
0.462
2--
CDHR4-
-
-
-
1Loss-
CDK12p.I730del
In_Frame_Del
DEL
0.391
2--
CDK18p.D340Mfs*59
Frame_Shift_Del
DEL
0.507
2--
CDK8-
-
-
-
3Gain-
CDKN2Ap.P114L
Missense
SNP
1.000
1Loss-
CDKN2B-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDON-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CDYLp.S526L
Missense
SNP
0.455
2--
CEACAM18p.D237E
Missense
SNP
0.516
2--
CEACAM20p.H61Y
Missense
SNP
0.514
2--
CEACAM6p.S245Qfs*11
Frame_Shift_Del
DEL
0.066
2--
CEBPD-
-
-
-
3Gain-
CELF1p.C89Y
Missense
SNP
0.429
2--
CELF2-
-
-
-
3Gain-
CELF5p.E415K
Missense
SNP
0.469
2--
CELSR1p.R1643Q
p.Q1273*
Missense
Nonsense
SNP
SNP
0.370
0.300
2--
CELSR3-
-
-
-
1Loss-
CENPJ-
-
-
-
3Gain-
CENPNp.R60C
Missense
SNP
0.367
2--
CENPPp.E48K
Missense
SNP
0.486
2--
CEP162p.F406Lfs*8
Frame_Shift_Del
DEL
0.082
2--
CEP164-
-
-
-
1Loss-
CEP192p.E1195K
p.P2178S
Missense
Missense
SNP
SNP
0.521
0.500
2--
CEP57p.K462R
Missense
SNP
0.449
2--
CEP72-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CFAP47p.S1555Ffs*14
p.Q2625Sfs*12
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.447
0.968
NDND-
CFAP54p.R1557Efs*19
p.K2593E
Frame_Shift_Del
Missense
DEL
SNP
0.434
0.466
2--
CFAP61p.S919F
Missense
SNP
0.506
2--
CFAP65p.M633*
Frame_Shift_Del
DEL
0.384
2--
CFAP74p.Q950Pfs*52
Frame_Shift_Ins
INS
0.276
2--
CFHR3p.P214S
Missense
SNP
0.565
2--
CFI-
-
-
-
3Gain-
CFTRp.P1205L
Missense
SNP
0.502
2--
CGAp.P95S
Missense
SNP
0.445
2--
CHAMP1-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD4p.R975H
Missense
SNP
0.444
2--
CHD5p.D1382Y
Missense
SNP
0.532
2--
CHD6p.T90A
Missense
SNP
0.101
2--
CHD7p.T1497I
Missense
SNP
0.692
3Gain-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHGBp.E211K
Missense
SNP
0.478
2--
CHL1p.S89L
p.P540S
Missense
Missense
SNP
SNP
0.412
0.591
2--
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHN1p.L297R
Missense
SNP
0.490
2--
CHPFp.R415H
Missense
SNP
0.434
2--
CHRAC1-
-
-
-
3Gain-
CHRM3p.K567Rfs*31
p.M131I
Frame_Shift_Del
Missense
DEL
SNP
0.507
0.466
2--
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHST11p.R133W
Missense
SNP
0.433
2--
CHST3p.L393Pfs*119
Frame_Shift_Ins
INS
0.177
2--
CHST7p.G361Rfs*15
Frame_Shift_Del
DEL
0.880
NDND-
CIB3p.L140*
Frame_Shift_Del
DEL
0.446
2--
CIDEC-
-
-
-
1Loss-
CISD3p.X17_splice;p.D17N
Splice_Site
MNP
0.479
2--
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
3Gain-
CKAP2Lp.E325K
Missense
SNP
0.478
2--
CKMT2p.L383F
Missense
SNP
0.545
2--
CLASP2-
-
-
-
1Loss-
CLCA1p.R209Dfs*7
Frame_Shift_Del
DEL
0.472
2--
CLCN3p.F388Lfs*9
Frame_Shift_Del
DEL
0.431
2--
CLCNKA-
-
-
-
1Loss-
CLDN10-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLDN9p.L180Sfs*196
Frame_Shift_Del
DEL
0.409
2--
CLEC3B-
-
-
-
1Loss-
CLIC5p.Q115P
Missense
SNP
0.446
2--
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
3Gain-
CLN6p.X181_splice
Splice_Site
SNP
0.500
2--
CLN8-
-
-
-
1Loss-
CLPTM1L-
-
-
-
4Gain-
CLTA-
-
-
-
1Loss-
CLTCp.A1039T
Missense
SNP
0.336
2--
CLU-
-
-
-
1Loss-
CLUHp.X810_splice
p.T315S
Splice_Site
Missense
SNP
SNP
0.495
0.381
2--
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CMBL-
-
-
-
4Gain-
CMC1-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD1p.R380*
p.R386K
Nonsense
Missense
SNP
SNP
0.636
0.559
3Gain-
CNGA1p.T516Qfs*8
Frame_Shift_Del
DEL
0.358
2--
CNGB3-
-
-
-
3Gain-
CNMD-
-
-
-
3Gain-
CNOT10-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLNp.E286K
Missense
SNP
1.000
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN5p.S379F
Missense
SNP
0.623
2--
CNTN6p.G744D
Missense
SNP
0.565
2--
CNTNAP1p.G322S
Missense
SNP
0.481
2--
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTNAP4p.I442S
Missense
SNP
0.484
2--
CNTNAP5p.Q618R
Missense
SNP
0.093
2--
COG3-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COILp.K196Rfs*13
Frame_Shift_Del
DEL
0.911
2--
COL11A1p.G451S
Missense
SNP
0.557
2--
COL13A1p.X566_splice
Splice_Site
SNP
0.567
2--
COL14A1-
-
-
-
3Gain-
COL15A1p.E435Sfs*25
p.G217D
Frame_Shift_Del
Missense
DEL
SNP
0.462
0.112
2--
COL22A1p.G771E
Missense
SNP
0.283
3Gain-
COL24A1p.G873R
p.A722V
Missense
Missense
SNP
SNP
0.484
0.517
2--
COL25A1p.M519K
Missense
SNP
0.463
2--
COL2A1p.P122S
Missense
SNP
0.399
2--
COL3A1p.P1043S
Missense
SNP
0.479
2--
COL4A1p.R476W
Missense
SNP
0.363
3Gain-
COL4A2p.G429E
p.G1408R
Missense
Missense
SNP
SNP
0.297
0.403
3Gain-
COL4A3p.G880E
Missense
SNP
0.466
2--
COL4A4p.P635S
p.P78L
Missense
Missense
SNP
SNP
0.574
0.504
2--
COL4A6p.G624R
Missense
SNP
1.000
NDND-
COL6A3p.T818S
Missense
SNP
0.468
2--
COL6A6p.R1295Q
p.G1296E
Missense
Missense
SNP
SNP
0.546
0.457
2--
COL7A1-
-
-
-
1Loss-
COLCA2-
-
-
-
1Loss-
COLEC10-
-
-
-
3Gain-
COLQp.P203S
Missense
SNP
1.000
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD6-
-
-
-
3Gain-
COMTp.V21L
Missense
SNP
0.330
2--
COPS5-
-
-
-
3Gain-
COPZ1.
Splice_Site
SNP
0.523
2--
COX6C-
-
-
-
5Amp-
CPA2p.R240W
Missense
SNP
0.507
2--
CPA6-
-
-
-
3Gain-
CPAMD8p.V684A
Missense
SNP
0.551
2--
CPB2-
-
-
-
3Gain-
CPLANE1-
-
-
-
4Gain-
CPLX4-
-
-
-
1Loss-
CPNE3-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPQ-
-
-
-
3Gain-
CPS1p.R1459Q
Missense
SNP
0.481
2--
CPSF1-
-
-
-
3Gain-
CRATp.K166Sfs*5
Frame_Shift_Del
DEL
0.264
2--
CRB1p.G330E
p.E1280V
Missense
Missense
SNP
SNP
0.498
0.488
2--
CREB3-
-
-
-
1Loss-
CREBBPp.R1682H
Missense
SNP
0.507
2--
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CROCCp.D736N
Missense
SNP
0.159
2--
CROCC2p.L996I
Missense
SNP
0.616
2--
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBB3p.R72K
Missense
SNP
0.427
2--
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2p.Q37Pfs*3
Frame_Shift_Ins
INS
0.291
2--
CSKp.G85D
Missense
SNP
0.438
2--
CSMD1p.R2808C
p.T2488M
p.S1071F
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
1Loss-
CSMD2p.P1130L
p.T422A
Missense
Missense
SNP
SNP
0.509
0.352
2--
CSMD3p.R3695Q
p.S3140F
p.E2508K
p.T2408A
p.X1632_splice
p.L761Y
Missense
Missense
Missense
Missense
Splice_Site
Missense
SNP
SNP
SNP
SNP
SNP
MNP
0.322
0.241
0.340
0.179
0.256
0.605
3Gain-
CSNK1A1L-
-
-
-
3Gain-
CSNK2A3p.Y182S
Missense
SNP
0.335
2--
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CTB-50L17.10p.P444L
Missense
SNP
0.463
NDND-
CTBP2p.A716D
Missense
SNP
0.500
2--
CTDP1p.G170K
Missense
MNP
0.356
2--
CTDSPL-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTLA4p.L28Ffs*44
Frame_Shift_Del
DEL
0.457
2--
CTNNB1-
-
-
-
1Loss-
CTNNBL1p.K463Nfs*57
Frame_Shift_Del
DEL
0.429
2--
CTNND1p.V739Gfs*10
Frame_Shift_Del
DEL
0.387
2--
CTNND2-
-
-
-
4Gain-
CTSB-
-
-
-
1Loss-
CTSZp.I302V
Missense
SNP
0.504
2--
CUBNp.L3199F
p.S2028F
p.A1202T
p.C225V
Missense
Missense
Missense
Missense
SNP
SNP
SNP
MNP
0.321
0.338
0.687
0.323
3Gain-
CUL1p.A619V
Missense
SNP
0.458
2--
CUL4A-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP27A1p.A30V
Missense
SNP
0.467
2--
CYP2B6p.S207L
Missense
SNP
0.523
2--
CYP2J2p.Q349*
Nonsense
SNP
0.486
2--
CYP4F22p.V195I
Missense
SNP
0.513
2--
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
3Gain-
CYTH4p.E54K
Missense
SNP
0.333
2--
DAB2-
-
-
-
4Gain-
DACH1-
-
-
-
3Gain-
DACT1p.L515M
Missense
SNP
0.353
2--
DACT2p.P252S
Missense
SNP
0.463
2--
DAG1-
-
-
-
1Loss-
DAGLBp.P589Lfs*43
Frame_Shift_Del
DEL
0.421
2--
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
3Gain-
DAP-
-
-
-
4Gain-
DAPK1p.W305Gfs*7
Frame_Shift_Del
DEL
0.434
2--
DAZL-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF12L2p.P240L
Missense
SNP
0.992
NDND-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCAF8L2p.G28R
p.G319R
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
DCDC1p.A730V
Missense
SNP
0.540
2--
DCHS1p.L1345Tfs*66
p.G1030Afs*31
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.246
0.090
2--
DCHS2p.M967I
Missense
SNP
0.344
2--
DCLK1p.R389Q
Missense
SNP
0.689
3Gain-
DCLK3-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCP1A-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCSTAMPp.T5I
Missense
SNP
0.291
3Gain-
DCT-
-
-
-
3Gain-
DCTN2p.D206Rfs*2
Frame_Shift_Ins
INS
0.280
2--
DCTN3-
-
-
-
1Loss-
DCTN4p.A168T
Missense
SNP
0.559
2--
DCTN6-
-
-
-
1Loss-
DCUN1D2-
-
-
-
3Gain-
DDCp.E173*
Nonsense
SNP
0.510
2--
DDHD2-
-
-
-
1Loss-
DDOSTp.S101F
Missense
SNP
0.544
2--
DDX10-
-
-
-
1Loss-
DDX25p.S28F
Missense
SNP
1.000
1Loss-
DDX27p.P648L
Missense
SNP
0.354
2--
DDX4p.L704Efs*16
Frame_Shift_Del
DEL
0.392
2--
DDX43p.A62V
Missense
SNP
0.500
2--
DDX50p.D55N
Missense
SNP
0.551
2--
DDX51p.A63V
Missense
SNP
0.511
2--
DDX53p.L262F
Missense
SNP
1.000
NDND-
DDX58-
-
-
-
1Loss-
DDX59p.P330Lfs*7
Frame_Shift_Del
DEL
0.342
2--
DDX6-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB128p.N26I
Missense
SNP
0.600
2--
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND1Cp.S63Afs*49
Frame_Shift_Del
DEL
0.062
2--
DENND3-
-
-
-
3Gain-
DENND4Ap.G1893R
Missense
SNP
0.390
2--
DENND4C-
-
-
-
1Loss-
DENND5Ap.E788K
Missense
SNP
0.490
2--
DENND5Bp.L312I
Missense
SNP
0.389
2--
DENND6A-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKGp.G268E
Missense
SNP
0.441
2--
DGKH-
-
-
-
3Gain-
DGKIp.K941E
Missense
SNP
0.513
2--
DHRS1p.P112S
Missense
SNP
0.413
2--
DHRS12-
-
-
-
3Gain-
DHRS4p.P177L
Missense
SNP
0.466
2--
DHTKD1-
-
-
-
3Gain-
DHX30-
-
-
-
1Loss-
DHX38p.L767P
Missense
SNP
0.407
2--
DIAPH3-
-
-
-
3Gain-
DIDO1p.A422T
Missense
SNP
0.438
2--
DIO1p.L75F
Missense
SNP
0.376
2--
DIP2C-
-
-
-
3Gain-
DIRAS2p.G194S
Missense
SNP
0.443
2--
DIS3-
-
-
-
3Gain-
DISP1p.A1087V
Missense
SNP
0.435
2--
DISP3p.L148P
p.P345S
Missense
Missense
SNP
SNP
0.539
0.421
2--
DIXDC1-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLC1p.R542K
Missense
SNP
1.000
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
3Gain-
DLG4p.L118P
Missense
SNP
0.494
2--
DLGAP2-
-
-
-
1Loss-
DLGAP3p.W797R
Missense
SNP
0.281
2--
DMAC1-
-
-
-
1Loss-
DMDp.P3086L
p.E2528K
p.E1536K
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
NDND-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL1p.G2925S
Missense
SNP
0.492
2--
DNAH1-
-
-
-
1Loss-
DNAH10p.G2514E
p.D4216N
Missense
Missense
SNP
SNP
0.497
0.599
2--
DNAH11p.P2680S
Missense
SNP
0.460
2--
DNAH12-
-
-
-
1Loss-
DNAH2p.R1991C
p.P3833L
p.T4149N
Missense
Missense
Missense
SNP
SNP
SNP
0.589
0.416
0.418
2--
DNAH3p.E2459K
p.G2436E
p.X1309_splice
p.P303L
p.V280M
Missense
Missense
Splice_Site
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.519
0.518
0.458
0.510
0.420
2--
DNAH5p.G4490E
Missense
SNP
0.251
4Gain-
DNAH6p.R2028K
p.G4000E
Missense
Missense
SNP
SNP
0.548
0.538
2--
DNAH7p.A3007Pfs*6
p.E2144K
Frame_Shift_Del
Missense
DEL
SNP
0.439
0.442
2--
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB5p.E5K
Missense
SNP
1.000
1Loss-
DNAJC15-
-
-
-
3Gain-
DNAJC16p.P161S
p.E439K
Missense
Missense
SNP
SNP
0.484
0.470
2--
DNAJC21-
-
-
-
4Gain-
DNAJC24p.I68Nfs*5
Frame_Shift_Ins
INS
0.306
2--
DNAJC3p.P490L
Missense
SNP
0.363
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC6p.D161E
Missense
SNP
0.433
2--
DNAJC9p.W97*
Nonsense
SNP
0.578
2--
DNASE1L3-
-
-
-
1Loss-
DNERp.P102L
Missense
SNP
0.481
2--
DNHD1p.L2370F
Missense
SNP
0.450
2--
DNM1Lp.R416C
Missense
SNP
0.448
2--
DNM2p.K577N
Missense
SNP
0.519
2--
DNMBPp.S146F
Missense
SNP
0.513
2--
DOCK2p.Q1412*
p.X1461_splice
Nonsense
Splice_Site
SNP
SNP
0.462
0.490
2--
DOCK3-
-
-
-
1Loss-
DOCK5p.S1802R
Missense
SNP
0.475
1Loss-
DOCK8-
-
-
-
1Loss-
DOCK9p.F1334Lfs*19
Frame_Shift_Del
DEL
0.216
3Gain-
DOK1p.L12Cfs*26
Frame_Shift_Del
DEL
0.497
2--
DOK2-
-
-
-
1Loss-
DOPEY2p.F847Lfs*7
Frame_Shift_Del
DEL
0.526
NDND-
DPAGT1-
-
-
-
1Loss-
DPCR1p.E603K
p.G704E
p.S1050L
Missense
Missense
Missense
SNP
SNP
SNP
0.514
0.528
0.514
NDND-
DPH3-
-
-
-
1Loss-
DPP10p.R7H
Missense
SNP
0.520
2--
DPP6p.R765K
Missense
SNP
0.504
2--
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DRAM1p.V47I
Missense
SNP
0.431
2--
DRD1p.K138Rfs*6
Frame_Shift_Del
DEL
0.446
2--
DRD2-
-
-
-
1Loss-
DROSHA-
-
-
-
4Gain-
DSC3p.S526L
Missense
SNP
0.592
2--
DSCAMp.E572Gfs*32
Frame_Shift_Ins
INS
0.310
2--
DSCAML1-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSPp.S2257L
Missense
SNP
0.477
2--
DSTp.K3804Nfs*2
Frame_Shift_Del
DEL
0.358
2--
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1p.R232C
Missense
SNP
0.099
2--
DYRK3p.T456I
Missense
SNP
0.431
2--
DYX1C1p.I195*
Frame_Shift_Del
DEL
0.380
NDND-
DZIP1p.N761S
Missense
SNP
0.141
3Gain-
E2F5-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPLp.F172Lfs*7
Frame_Shift_Del
DEL
0.567
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1p.A84Pfs*23
Frame_Shift_Del
DEL
0.541
2--
EDAR-
-
-
-
3Gain-
EDNRB-
-
-
-
3Gain-
EEF1AKMT1p.I43M
Missense
SNP
0.451
2--
EEF1D-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB6p.D113N
Missense
SNP
0.121
2--
EFCAB8p.S1198F
Missense
SNP
0.461
2--
EFHB-
-
-
-
1Loss-
EFNA5p.E129K
Missense
SNP
0.455
2--
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EGFL7p.R184Gfs*13
Frame_Shift_Del
DEL
0.471
2--
EGFLAMp.I41N
Missense
SNP
0.237
4Gain-
EGR3-
-
-
-
1Loss-
EHBP1L1p.T115M
Missense
SNP
0.505
2--
EI24-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2B2p.H188Y
Missense
SNP
0.469
2--
EIF3Dp.P340L
Missense
SNP
0.368
2--
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF5Bp.K98Rfs*83
Frame_Shift_Del
DEL
0.286
2--
ELAC1p.I332N
Missense
SNP
0.404
2--
ELAVL2-
-
-
-
1Loss-
ELF1-
-
-
-
3Gain-
ELK1p.G424R
Missense
SNP
1.000
NDND-
ELK3p.V176Rfs*14
Frame_Shift_Ins
INS
0.323
2--
ELMOD1-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
ELP4p.S48P
p.V108A
Missense
Missense
SNP
SNP
0.342
0.516
2--
ELP6-
-
-
-
1Loss-
EMC10p.A234G
Missense
SNP
0.620
2--
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EN2p.D244N
Missense
SNP
0.481
2--
ENDOD1p.R432C
Missense
SNP
0.436
2--
ENHO-
-
-
-
1Loss-
ENO3p.S177F
p.E219K
Missense
Missense
SNP
SNP
0.498
0.468
2--
ENOX1-
-
-
-
3Gain-
ENPP2p.G528R
Missense
SNP
0.351
3Gain-
ENPP3p.R70L
Missense
SNP
0.445
2--
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPAS1p.P397H
Missense
SNP
0.492
2--
EPB41L4Bp.L787F
Missense
SNP
0.985
2--
EPB41L5p.R131C
Missense
SNP
0.608
2--
EPHA5p.R621G
Missense
SNP
0.114
2--
EPHX2-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN1p.P386Lfs*142
Frame_Shift_Del
DEL
0.431
2--
EPPK1-
-
-
-
3Gain-
EPSTI1-
-
-
-
3Gain-
EQTN-
-
-
-
1Loss-
ERAP2p.Y184F
Missense
SNP
0.570
2--
ERBB2p.D1012N
Missense
SNP
0.461
2--
ERC2-
-
-
-
1Loss-
ERCC5p.A525T
Missense
SNP
0.290
3Gain-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH3p.T766Rfs*23
p.R66Q
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.412
2--
ERICH5-
-
-
-
3Gain-
ERICH6B-
-
-
-
3Gain-
ERLIN2p.P97S
Missense
SNP
1.000
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1Ap.M342Cfs*33
Frame_Shift_Del
DEL
0.565
2--
ESAM-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
3Gain-
ESPL1p.D577N
Missense
SNP
0.500
2--
ESR2p.P106S
Missense
SNP
0.525
2--
ESRP1-
-
-
-
3Gain-
ESYT3p.P369F
Missense
MNP
0.426
2--
ETF1p.A187V
Missense
SNP
0.372
2--
ETNK2p.G290S
Missense
SNP
0.462
2--
ETS1-
-
-
-
1Loss-
EVC2p.Q444H
Missense
SNP
0.398
2--
EXOC3-
-
-
-
3Gain-
EXOC8p.K559Tfs*9
Frame_Shift_Ins
INS
0.211
2--
EXOG-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
3Gain-
EXPH5-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXTL1p.V187A
Missense
SNP
0.515
2--
EXTL3-
-
-
-
1Loss-
EYA1p.G194K
Missense
MNP
0.340
3Gain-
EYA4p.G359E
Missense
SNP
0.538
2--
EYSp.L2286F
Missense
SNP
0.515
2--
F10-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
F8p.E1101K
Missense
SNP
0.992
NDND-
FAAP100p.C15Y
Missense
SNP
0.410
2--
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107Bp.T104M
Missense
SNP
0.210
3Gain-
FAM110Bp.P216L
Missense
SNP
0.343
3Gain-
FAM118Ap.R78W
Missense
SNP
0.458
2--
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
3Gain-
FAM135Bp.V1308I
p.S1262C
Missense
Missense
SNP
SNP
0.342
0.675
3Gain-
FAM149Ap.T39A
Missense
SNP
0.491
2--
FAM155A-
-
-
-
3Gain-
FAM160B2-
-
-
-
1Loss-
FAM162Bp.P36S
Missense
SNP
0.609
2--
FAM166B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM170Ap.G36E
Missense
SNP
0.487
2--
FAM171A1p.R575K
Missense
SNP
0.329
3Gain-
FAM173B-
-
-
-
4Gain-
FAM189A1p.*540Lext*74
Nonstop
SNP
0.474
2--
FAM189A2p.G179R
Missense
SNP
0.444
2--
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM216B-
-
-
-
3Gain-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM26Ep.F246Lfs*75
Frame_Shift_Del
DEL
0.468
NDND-
FAM3D-
-
-
-
1Loss-
FAM46Cp.R58W
Missense
SNP
0.482
NDND-
FAM47Ap.K484N
p.R361C
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
FAM47Bp.E75K
p.V638A
Missense
Missense
SNP
SNP
0.990
1.000
NDND-
FAM47Cp.P200Rfs*625
Frame_Shift_Del
DEL
0.940
NDND-
FAM49B-
-
-
-
3Gain-
FAM65Bp.L772F
Missense
SNP
0.457
NDND-
FAM69Cp.D141N;p.Q140H
Missense
MNP
0.500
2--
FAM71F2p.R5K
Missense
SNP
0.507
2--
FAM83Ap.S47Ffs*2
Frame_Shift_Ins
INS
0.335
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
1Loss-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM95C-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FAPp.C23Y
Missense
SNP
0.468
2--
FARP1-
-
-
-
3Gain-
FARP2p.G189C
Missense
SNP
0.507
2--
FASNp.L1353Sfs*20
p.R1180L
Frame_Shift_Del
Missense
DEL
SNP
0.586
0.336
2--
FASTKD3-
-
-
-
4Gain-
FAT1p.N126Kfs*3
p.G4102R
Frame_Shift_Ins
Missense
INS
SNP
0.269
0.489
2--
FAT2p.V2686Yfs*41
p.L1095Wfs*11
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.399
0.422
2--
FAT3p.P894L
p.R3634H
p.P4081S
Missense
Missense
Missense
SNP
SNP
SNP
0.404
0.370
0.488
2--
FAXDC2p.T259A
Missense
SNP
0.591
2--
FBH1-
-
-
-
3Gain-
FBLN2-
-
-
-
1Loss-
FBLN5p.P216L
Missense
SNP
0.545
2--
FBLN7p.H361Afs*125
Frame_Shift_Ins
INS
0.297
2--
FBN1p.G2199D
p.F2107S
Missense
Missense
SNP
SNP
0.348
0.504
2--
FBN3p.E1420K
Missense
SNP
0.503
2--
FBXL2-
-
-
-
1Loss-
FBXL3-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXL7-
-
-
-
4Gain-
FBXO10-
-
-
-
1Loss-
FBXO15p.R379I
Missense
SNP
0.427
2--
FBXO16-
-
-
-
1Loss-
FBXO17p.F91Y
Missense
SNP
0.496
2--
FBXO25-
-
-
-
1Loss-
FBXO3p.Y380H
Missense
SNP
0.408
2--
FBXO32-
-
-
-
3Gain-
FBXO38p.M30T
Missense
SNP
0.336
2--
FBXO39p.T335I
Missense
SNP
0.638
2--
FBXO4-
-
-
-
4Gain-
FBXO43-
-
-
-
3Gain-
FBXO46p.P424Rfs*34
Frame_Shift_Del
DEL
0.313
2--
FBXW10p.G298R
Missense
SNP
0.381
2--
FBXW12-
-
-
-
1Loss-
FCGBPp.L4042I
Missense
SNP
0.432
2--
FCN1p.R324W
Missense
SNP
0.508
2--
FCRL5p.H788Mfs*6
p.R751C
Frame_Shift_Del
Missense
DEL
SNP
0.455
0.493
2--
FDCSPp.D33N
Missense
SNP
0.511
2--
FDFT1-
-
-
-
1Loss-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FER1L5p.E1036K
Missense
SNP
0.509
2--
FER1L6p.G588R
Missense
SNP
0.608
3Gain-
FERMT3p.S255N
p.G396R
Missense
Missense
SNP
SNP
0.496
0.529
2--
FEZ1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR2p.G300R
Missense
SNP
0.480
2--
FGAp.M858I
Missense
SNP
0.400
2--
FGBp.D346G
Missense
SNP
0.445
2--
FGD3p.V297M
Missense
SNP
0.481
2--
FGD5-
-
-
-
1Loss-
FGF10-
-
-
-
4Gain-
FGF14-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF3p.I78K
Missense
SNP
0.120
2--
FGF9-
-
-
-
3Gain-
FGFR1-
-
-
-
1Loss-
FGFR4p.R758H
Missense
SNP
0.562
2--
FGGYp.V140*
Frame_Shift_Del
DEL
0.087
2--
FGL1p.N182Ifs*21
Frame_Shift_Del
DEL
0.886
1Loss-
FHIT-
-
-
-
1Loss-
FIBCD1p.F350L
Missense
SNP
0.521
2--
FILIP1Lp.K749Nfs*2
Frame_Shift_Del
DEL
0.421
2--
FKBP9p.L30M
Missense
SNP
0.473
2--
FLGp.S3580F
Missense
SNP
0.489
2--
FLG2p.A818S
p.H735Y
Missense
Missense
SNP
SNP
0.462
0.481
2--
FLI1-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FLYWCH1p.P4L
Missense
SNP
0.472
2--
FMN1p.G218E
Missense
SNP
0.408
2--
FMN2p.S747F
Missense
SNP
0.510
2--
FNBP4p.T99I
Missense
SNP
0.448
2--
FNDC3A-
-
-
-
3Gain-
FNTA-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOXD4L5-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXL1p.G290N
Missense
MNP
0.464
2--
FOXN2p.K107Nfs*60
Frame_Shift_Del
DEL
0.428
2--
FOXO1-
-
-
-
3Gain-
FOXO6p.R463*
Nonsense
SNP
0.420
2--
FOXP1-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1p.T435I
Missense
SNP
1.000
1Loss-
FOXS1p.T235M
Missense
SNP
0.470
2--
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGT-TNNI3Kp.T212S
Missense
SNP
0.534
2--
FRAS1p.X3168_splice
Splice_Site
SNP
0.439
2--
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
3Gain-
FREM3p.P67L
Missense
SNP
0.519
2--
FRG2C-
-
-
-
1Loss-
FRMD4A-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRY-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSTL1p.D186N
Missense
SNP
0.598
2--
FSTL4p.G790Vfs*6
p.Q530*
Frame_Shift_Del
Nonsense
DEL
SNP
0.508
0.459
2--
FSTL5p.Q123Tfs*9
Frame_Shift_Ins
INS
0.352
2--
FTSJ3p.R634C
Missense
SNP
0.371
2--
FUCA1p.P236L
Missense
SNP
0.482
2--
FUT10-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYBp.K293Rfs*6
Frame_Shift_Del
DEL
0.078
NDND-
FYB1-
-
-
-
4Gain-
FYCO1-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZR1p.V178M
Missense
SNP
0.479
2--
G2E3p.H301Tfs*7
Frame_Shift_Ins
INS
0.051
2--
G3BP2p.R132C
Missense
SNP
0.369
2--
GABPAp.L406F
Missense
SNP
1.000
2--
GABRA1p.P79L
Missense
SNP
0.455
2--
GABRDp.A441V
Missense
SNP
0.524
2--
GABRG1p.G271R
Missense
SNP
0.509
2--
GABRG2p.R344K
Missense
SNP
0.497
2--
GADL1-
-
-
-
1Loss-
GAL3ST1p.K318N
Missense
SNP
0.196
2--
GALNT10p.E494D
Missense
SNP
0.309
2--
GALNT15-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAMTp.R63Pfs*22
Frame_Shift_Ins
INS
0.310
2--
GAR1-
-
-
-
3Gain-
GAS2p.D111E
p.E170K
Missense
Missense
SNP
SNP
0.505
0.397
2--
GAS6-
-
-
-
3Gain-
GATA3p.P135Rfs*60
p.F410L
Frame_Shift_Del
Missense
DEL
SNP
0.199
0.361
3Gain-
GATA4-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
3Gain-
GDNFp.A34V
Missense
SNP
0.729
4Gain-
GEM-
-
-
-
3Gain-
GFAPp.R36H
Missense
SNP
0.563
2--
GFRA2-
-
-
-
1Loss-
GGACT-
-
-
-
3Gain-
GGCXp.S398F
Missense
SNP
0.490
2--
GGH-
-
-
-
3Gain-
GHR-
-
-
-
4Gain-
GHRL-
-
-
-
1Loss-
GIMAP6p.L115F
Missense
SNP
0.458
2--
GINS4-
-
-
-
1Loss-
GK5p.H172N
Missense
SNP
0.485
2--
GLB1-
-
-
-
1Loss-
GLB1L2p.M326I
Missense
SNP
1.000
1Loss-
GLB1L3-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLI4-
-
-
-
3Gain-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLRA1p.D85N
Missense
SNP
0.618
2--
GLRA2p.M254I
Missense
SNP
0.982
NDND-
GLT8D1-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GLYR1p.R381Afs*20
Frame_Shift_Del
DEL
0.396
2--
GML-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GMPRp.P49S
Missense
SNP
0.515
2--
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNB3p.S122F
Missense
SNP
0.450
2--
GNE-
-
-
-
1Loss-
GNG12p.T68Nfs*9
Frame_Shift_Ins
INS
0.271
2--
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA2p.Y989Tfs*9
Frame_Shift_Del
DEL
0.154
2--
GOLGA4p.A1738T
Missense
SNP
0.990
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGB1p.E1031K
Missense
SNP
0.478
2--
GOLPH3-
-
-
-
4Gain-
GORASP1p.T425M
Missense
SNP
0.969
1Loss-
GOT1L1-
-
-
-
1Loss-
GP2p.G389W
Missense
SNP
0.553
2--
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH3p.F33S
Missense
SNP
0.449
2--
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPHB5p.C36S
Missense
SNP
0.498
2--
GPHNp.L289Afs*59
Frame_Shift_Ins
INS
0.294
2--
GPIHBP1-
-
-
-
3Gain-
GPN1p.E304Tfs*31
Frame_Shift_Del
DEL
0.362
2--
GPR12-
-
-
-
3Gain-
GPR15p.A224V
Missense
SNP
0.492
2--
GPR156p.F612C
Missense
SNP
0.511
2--
GPR158p.E804K
Missense
SNP
0.465
2--
GPR179p.F613del
In_Frame_Del
DEL
0.461
2--
GPR18p.L238del
In_Frame_Del
DEL
0.283
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR52p.E248K
Missense
SNP
0.448
2--
GPR62-
-
-
-
1Loss-
GPRC5Dp.D308N
Missense
SNP
0.444
2--
GPRIN3p.N429K
Missense
SNP
0.451
2--
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRASPp.E214Rfs*141
Frame_Shift_Ins
INS
0.339
2--
GREB1Lp.G2E
p.E263K
Missense
Missense
SNP
SNP
0.467
0.522
2--
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIA2p.P403S
Missense
SNP
0.433
2--
GRIA4-
-
-
-
1Loss-
GRID1p.X666_splice
Splice_Site
SNP
0.473
2--
GRID2p.M693I
Missense
SNP
0.469
2--
GRIK1p.D370N
Missense
SNP
1.000
2--
GRIK2p.N849Tfs*14
p.V766I
Frame_Shift_Del
Missense
DEL
SNP
0.111
0.500
2--
GRIK3p.R9Q
Missense
SNP
0.469
2--
GRIK4-
-
-
-
1Loss-
GRIN2Ap.P985L
Missense
SNP
0.395
2--
GRINA-
-
-
-
3Gain-
GRIP1p.P715S
Missense
SNP
0.523
2--
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
3Gain-
GRM1p.S1064Y
p.A1156T
Missense
Missense
SNP
SNP
0.504
0.581
2--
GRM2-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSG1p.R144Q
Missense
SNP
0.362
2--
GSG1L2p.G285N
Missense
MNP
0.358
2--
GSG2p.E347K
Missense
SNP
0.469
NDND-
GSR-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GTF2A2p.Q16R
Missense
SNP
0.404
2--
GTF2E2-
-
-
-
1Loss-
GTF2F2-
-
-
-
3Gain-
GTF2IRD1p.E324K
Missense
SNP
0.427
2--
GTF3A-
-
-
-
3Gain-
GTF3C1p.S767Vfs*7
Frame_Shift_Del
DEL
0.523
2--
GTPBP4-
-
-
-
3Gain-
GTSE1p.Y102H
Missense
SNP
0.454
2--
GUCY1A1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GUCY1A3p.P60A
Missense
SNP
0.195
NDND-
GUCY1B1-
-
-
-
1Loss-
GXYLT1p.H327Sfs*2
Frame_Shift_Ins
INS
0.349
2--
GXYLT2-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
HAAOp.X27_splice
Splice_Site
SNP
0.409
2--
HACD1-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAND2p.V83Cfs*16
Frame_Shift_Del
DEL
0.082
2--
HARBI1p.Y48N
Missense
SNP
0.420
2--
HAS2-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HCFC2p.P587L
Missense
SNP
0.582
2--
HCN1-
-
-
-
4Gain-
HCN4p.A133T
Missense
SNP
0.613
2--
HDAC11-
-
-
-
1Loss-
HDAC2p.V12Sfs*20
Frame_Shift_Del
DEL
0.595
2--
HDAC4p.M902Wfs*55
Frame_Shift_Del
DEL
0.173
2--
HDAC9p.G197E
Missense
SNP
0.463
2--
HDDC2p.Q131K
Missense
SNP
0.444
2--
HEATR1p.H705Y
Missense
SNP
0.505
2--
HEATR6p.S389F
Missense
SNP
0.486
2--
HECAp.G335Dfs*27
Frame_Shift_Del
DEL
0.463
2--
HEG1p.A89T
Missense
SNP
0.636
2--
HELBp.D1083N
Missense
SNP
0.585
2--
HELQp.N271Mfs*3
Frame_Shift_Del
DEL
0.512
2--
HELZ2p.V2395G
Missense
SNP
0.452
2--
HEMK1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC2p.E1430Sfs*16
p.V2786M
Frame_Shift_Del
Missense
DEL
SNP
0.320
0.470
2--
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HHLA2p.S105P
Missense
SNP
0.552
2--
HIC1p.G641R
Missense
SNP
0.421
2--
HIC2p.A421T
Missense
SNP
0.410
2--
HID1p.P442L
Missense
SNP
0.486
2--
HINFP-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIPK4p.G409D
Missense
SNP
0.470
2--
HIST1H2BBp.E106Sfs*?
Frame_Shift_Del
DEL
0.056
2--
HIST1H2BO-
-
-
-
2-HIST1H2BO--SNORA52
HIST1H3Ap.C111S
Missense
SNP
0.481
2--
HIVEP1p.X14_splice
Splice_Site
SNP
0.506
2--
HIVEP3p.T516I
Missense
SNP
0.443
2--
HMBOX1-
-
-
-
1Loss-
HMBS-
-
-
-
1Loss-
HMCN1p.D1229Y
Missense
SNP
0.451
2--
HMGB1-
-
-
-
3Gain-
HMGCS1p.P170L
Missense
SNP
0.703
4Gain-
HMGN4p.G55E
Missense
SNP
0.432
2--
HMSD-
-
-
-
1Loss-
HNF4G-
-
-
-
3Gain-
HOMEZp.L376Yfs*14
Frame_Shift_Del
DEL
0.469
2--
HOOK3-
-
-
-
1Loss-
HOXA3p.S190L
Missense
SNP
0.487
2--
HR-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRH1-
-
-
-
1Loss-
HS6ST3-
-
-
-
3Gain-
HSD11B2p.D323N
Missense
SNP
0.478
2--
HSF1-
-
-
-
3Gain-
HSF2p.R71C
Missense
SNP
0.573
2--
HSF4p.P323Afs*29
Frame_Shift_Ins
INS
0.275
2--
HSPA14-
-
-
-
3Gain-
HSPA5p.E539K
Missense
SNP
0.097
2--
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPG2-
-
-
-
2-RN7SL1--HSPG2
HSPH1-
-
-
-
3Gain-
HTD2-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR7p.L305F
Missense
SNP
0.481
2--
HTRA4-
-
-
-
1Loss-
HTTp.S1055L
Missense
SNP
0.525
2--
HUWE1p.V4306A
Missense
SNP
1.000
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IBA57p.P68L
Missense
SNP
0.474
2--
IBTKp.X792_splice;p.E792K
Splice_Site
MNP
0.478
2--
ICAM5p.S735F
Missense
SNP
0.477
2--
ICE1-
-
-
-
4Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122p.P918S
Missense
SNP
0.417
2--
IFT46-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IFT81p.E356Rfs*5
Frame_Shift_Ins
INS
0.277
2--
IGF2Rp.P857L
Missense
SNP
0.515
2--
IGFBPL1-
-
-
-
1Loss-
IGHV1-18p.Y114C
Missense
SNP
0.295
NDND-
IGKV1-16p.F105I
Missense
SNP
0.596
NDND-
IGLV3-10p.K49Nfs*43
Frame_Shift_Del
DEL
0.215
NDND-
IGLV3-12p.P116L
Missense
SNP
0.500
NDND-
IGSF10p.C33W
Missense
SNP
0.447
2--
IGSF9B-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF1p.G141E
Missense
SNP
0.460
2--
IL10RA-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL12Bp.S281R
Missense
SNP
0.400
2--
IL15RA-
-
-
-
3Gain-
IL16p.P499S
Missense
SNP
0.364
2--
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL1RAPp.V466A
Missense
SNP
0.488
2--
IL2RA-
-
-
-
3Gain-
IL31RAp.S744L
Missense
SNP
0.462
2--
IL33-
-
-
-
1Loss-
IL4I1p.G118Afs*40
Frame_Shift_Del
DEL
0.470
2--
IL7-
-
-
-
3Gain-
IL7R-
-
-
-
4Gain-
ILKp.H172L
Missense
SNP
0.462
2--
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2p.P237S
Missense
SNP
0.535
2--
INF2p.S154F
Missense
SNP
0.482
2--
ING1-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INO80Dp.P233S
Missense
SNP
0.554
2--
INPP4Ap.R885C
Missense
SNP
0.492
2--
INPP5Dp.P1033S
Missense
SNP
0.515
2--
INSL4-
-
-
-
1Loss-
INSL5p.P78L
Missense
SNP
0.517
2--
INSL6-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS6-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
INVSp.I447V
Missense
SNP
1.000
2--
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO5-
-
-
-
3Gain-
IPO9p.S634F
Missense
SNP
0.458
2--
IPPp.A517V
Missense
SNP
0.516
2--
IPPKp.G289D
Missense
SNP
0.496
2--
IQANK1-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQGAP3p.Q1205Sfs*31
Frame_Shift_Del
DEL
0.338
2--
IQSEC1-
-
-
-
1Loss-
IQSEC2p.G283Afs*23
Frame_Shift_Del
DEL
0.188
NDND-
IQSEC3p.P666L
Missense
SNP
0.414
2--
IRAK2-
-
-
-
1Loss-
IRF2BPLp.A288V
Missense
SNP
0.495
2--
IRF4p.R98W
Missense
SNP
0.429
2--
IRS2-
-
-
-
3Gain-
IRX1-
-
-
-
4Gain-
IRX2-
-
-
-
4Gain-
IRX4p.S108L
Missense
SNP
0.279
4Gain-
IRX6p.G323E
Missense
SNP
0.552
2--
ISG20L2p.L306F
Missense
SNP
0.420
2--
ITFG2p.G181C
Missense
SNP
0.554
2--
ITGA8-
-
-
-
3Gain-
ITGA9-
-
-
-
1Loss-
ITGAEp.R876Qfs*19
p.T435A
Frame_Shift_Ins
Missense
INS
SNP
0.227
0.495
2--
ITGAVp.S190G
Missense
SNP
0.553
2--
ITGB3BPp.L106W
Missense
SNP
0.455
2--
ITGB4p.A315T
Missense
SNP
0.452
2--
ITGBL1p.G213R
Missense
SNP
0.634
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
3Gain-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
3Gain-
ITKp.G354E
Missense
SNP
0.704
2--
ITM2B-
-
-
-
3Gain-
ITPR1p.F662L
Missense
SNP
0.420
2--
ITPRIPL2p.L451H
Missense
SNP
0.323
2--
IWS1p.R547C
Missense
SNP
0.482
2--
IZUMO3-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3p.S897N
Missense
SNP
0.479
2--
JAKMIP1p.Q666*
Nonsense
SNP
0.491
2--
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2p.P736Q
Missense
SNP
0.084
2--
JHY-
-
-
-
1Loss-
JOSD2p.*189Wext*?
Nonstop
SNP
0.392
2--
JPH1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANSL1p.G204Vfs*2
Frame_Shift_Del
DEL
0.235
2--
KAT2B-
-
-
-
1Loss-
KAT5p.R244H
Missense
SNP
0.523
2--
KAT6A-
-
-
-
1Loss-
KAT6Bp.P1759S
Missense
SNP
0.531
2--
KATNAL1-
-
-
-
3Gain-
KAZNp.L91F
Missense
SNP
0.565
2--
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNA4p.R240C
p.C151R
Missense
Missense
SNP
SNP
0.451
0.159
2--
KCNB2-
-
-
-
3Gain-
KCNC1p.S444F
Missense
SNP
0.510
2--
KCNE1B-
-
-
-
1Loss-
KCNG2p.Q239H
Missense
SNP
0.317
2--
KCNH6p.P867S
Missense
SNP
0.488
2--
KCNH8-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ5p.T100A
Missense
SNP
1.000
1Loss-
KCNK18p.M348I
Missense
SNP
0.491
2--
KCNK5p.A221V
Missense
SNP
0.574
2--
KCNK9-
-
-
-
3Gain-
KCNQ3p.G724Dfs*28
Frame_Shift_Del
DEL
0.618
3Gain-
KCNRG-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT1p.D1168G
Missense
SNP
0.479
2--
KCNT2p.S385R
Missense
SNP
0.461
2--
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD12-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR2p.T92A
Missense
SNP
0.260
2--
KDF1p.S137Afs*111
Frame_Shift_Del
DEL
0.387
2--
KDM1Ap.K297Dfs*51
Frame_Shift_Del
DEL
0.531
2--
KDM4Bp.R329H
Missense
SNP
0.506
2--
KDM4C-
-
-
-
1Loss-
KDM4Dp.K93Rfs*4
Frame_Shift_Del
DEL
0.134
2--
KDM4Ep.F258L
Missense
SNP
0.492
2--
KDSR-
-
-
-
1Loss-
KHDRBS1p.A82S
Missense
SNP
0.444
2--
KHDRBS2p.S87F
Missense
SNP
0.470
2--
KHDRBS3p.S292G
Missense
SNP
0.316
3Gain-
KIAA0513p.F312Lfs*32
Frame_Shift_Del
DEL
0.470
2--
KIAA0922p.T1376I
Missense
SNP
0.461
NDND-
KIAA1107p.R692K
Missense
SNP
0.495
NDND-
KIAA1143-
-
-
-
1Loss-
KIAA1211p.V119A
Missense
SNP
0.476
2--
KIAA1211Lp.S3F
Missense
SNP
0.487
2--
KIAA1549p.R1106Q
p.W420*
Missense
Nonsense
SNP
MNP
0.554
0.481
2--
KIAA1551p.I93M
p.P1659L
Missense
Missense
SNP
SNP
0.503
0.398
2--
KIAA1671p.P385S
p.D1404N
Missense
Missense
SNP
SNP
0.470
0.442
2--
KIAA1755p.P4L
Missense
SNP
0.511
2--
KIAA2026-
-
-
-
1Loss-
KIF11p.R1051*
Nonsense
SNP
0.567
2--
KIF13B-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF16Bp.N274Kfs*3
Frame_Shift_Ins
INS
0.313
2--
KIF17p.E592Gfs*67
Frame_Shift_Ins
INS
0.288
2--
KIF21Bp.T1295M
Missense
SNP
0.519
2--
KIF24-
-
-
-
1Loss-
KIF25p.Q352*
Nonsense
SNP
0.419
2--
KIF26Ap.V265Rfs*5
Frame_Shift_Ins
INS
0.058
2--
KIF2Ap.E237Rfs*8
Frame_Shift_Ins
INS
0.299
2--
KIF4Bp.R256C
Missense
SNP
0.451
2--
KIF5Ap.T317A
p.R408C
Missense
Missense
SNP
SNP
0.464
0.119
2--
KIF5Cp.S282N
Missense
SNP
0.503
2--
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIRRELp.P393L
Missense
SNP
0.424
NDND-
KIRREL2p.G355S
Missense
SNP
0.513
2--
KIRREL3-
-
-
-
1Loss-
KL-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF11p.G346R
p.T364I
Missense
Missense
SNP
SNP
0.402
0.382
2--
KLF12-
-
-
-
3Gain-
KLF5-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHL1p.W727*
Nonsense
SNP
0.689
3Gain-
KLHL10p.D552N
Missense
SNP
0.461
2--
KLHL18-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL4p.Q27*
Nonsense
SNP
1.000
NDND-
KLHL40-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLK1p.Y43H
Missense
SNP
0.350
2--
KLK3p.W29*
Nonsense
SNP
0.333
2--
KLKB1p.P440S
Missense
SNP
0.514
2--
KLRG2p.C396Y
Missense
SNP
0.520
2--
KMT2A-
-
-
-
1Loss-
KMT2Bp.P1821Hfs*74
p.L1071M
Frame_Shift_Del
Missense
DEL
SNP
0.465
0.554
2--
KMT2Ep.V1184E
Missense
SNP
0.461
2--
KMT5Cp.R339Pfs*122
Frame_Shift_Ins
INS
0.286
2--
KNSTRNp.F34L
Missense
SNP
0.394
2--
KPNA3-
-
-
-
3Gain-
KPNA5p.R30Q
Missense
SNP
0.471
2--
KPTNp.K92Sfs*22
Frame_Shift_Del
DEL
0.108
2--
KRASp.E63K
Missense
SNP
0.562
2--
KRBOX1-
-
-
-
1Loss-
KRT26p.A151V
Missense
SNP
0.445
2--
KRT33Bp.T401I
Missense
SNP
0.387
2--
KRT6Bp.E473K
Missense
SNP
0.583
2--
KRTAP19-3p.G51E
Missense
SNP
1.000
2--
KRTAP25-1p.S5F
Missense
SNP
0.992
2--
KRTAP5-8p.S56Lfs*37
Frame_Shift_Ins
INS
0.359
2--
KRTAP6-1p.R43H
Missense
SNP
0.554
2--
L1CAMp.R554C
Missense
SNP
1.000
NDND-
L3MBTL1p.D552K
Missense
MNP
0.456
2--
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAMA1p.H1350Y
Missense
SNP
0.461
2--
LAMA5p.W3447*
p.X3169_splice
p.R2193C
Nonsense
Splice_Site
Missense
SNP
SNP
SNP
0.442
0.596
0.435
2--
LAMB2-
-
-
-
1Loss-
LAMC2-
-
-
-
2-AC091167.1--LAMC2
LAMP1-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LARS2-
-
-
-
1Loss-
LATS1p.L695F
Missense
SNP
0.524
2--
LATS2-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LCA5p.W436L
Missense
SNP
0.500
2--
LCORp.A303V
Missense
SNP
0.467
2--
LCP1-
-
-
-
3Gain-
LCTp.G531R
Missense
SNP
0.477
2--
LDB3p.A222V
Missense
SNP
0.359
2--
LDHAL6Bp.N162Y
Missense
SNP
0.435
2--
LEPRp.W319*
p.G1131E
Nonsense
Missense
SNP
SNP
0.490
0.532
2--
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGR6p.P466L
Missense
MNP
0.433
2--
LHFPL4-
-
-
-
1Loss-
LHFPL5p.D85N
Missense
SNP
0.491
2--
LHFPL6-
-
-
-
3Gain-
LHX6p.L209F
Missense
SNP
0.993
2--
LIFR-
-
-
-
4Gain-
LIG3p.N125Kfs*11
Frame_Shift_Ins
INS
0.301
2--
LIG4-
-
-
-
3Gain-
LILRB1p.X24_splice
p.V463L
Splice_Site
Missense
SNP
SNP
0.372
0.578
2--
LIMD1-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMBRD2p.R219Gfs*6
Frame_Shift_Del
DEL
0.057
4Gain-
LMCD1-
-
-
-
1Loss-
LMO7-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LNX2p.H623Y
Missense
SNP
0.629
3Gain-
LONRF1-
-
-
-
1Loss-
LOXHD1p.G358R
Missense
SNP
0.455
2--
LOXL2-
-
-
-
1Loss-
LPAR6-
-
-
-
3Gain-
LPCAT1-
-
-
-
4Gain-
LPIN1p.R171G
Missense
SNP
0.591
2--
LPIN2p.P327L
Missense
SNP
0.419
2--
LPL-
-
-
-
1Loss-
LPOp.S291F
Missense
SNP
0.450
2--
LRBAp.E1593K
Missense
SNP
0.444
2--
LRCH1-
-
-
-
3Gain-
LRFN2p.T686M
Missense
SNP
0.144
2--
LRFN3p.L39P
Missense
SNP
0.531
2--
LRIG1-
-
-
-
1Loss-
LRIT3p.P121L
Missense
SNP
0.637
3Gain-
LRP1p.D4193Rfs*9
Frame_Shift_Ins
INS
0.299
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.K2543Nfs*42
p.D2709N
Frame_Shift_Del
Missense
DEL
SNP
0.490
0.486
2--
LRP2p.G243R
Missense
SNP
0.504
2--
LRP8p.A454T
Missense
SNP
0.486
2--
LRRC14-
-
-
-
3Gain-
LRRC14B-
-
-
-
3Gain-
LRRC15p.R302W
p.S132N
Missense
Missense
SNP
SNP
0.456
0.484
2--
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC32p.L559M
Missense
SNP
0.577
2--
LRRC37Bp.T465I
Missense
SNP
0.636
2--
LRRC3B-
-
-
-
1Loss-
LRRC3Cp.S254F
Missense
SNP
0.487
2--
LRRC43p.T270I
p.G517R
Missense
Missense
SNP
SNP
0.538
0.493
2--
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC72p.G201E
Missense
SNP
0.507
2--
LRRCC1-
-
-
-
3Gain-
LRRD1p.P250S
Missense
SNP
0.505
2--
LRRFIP2-
-
-
-
1Loss-
LRRIQ1p.N484Mfs*4
p.E1539Kfs*20
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.237
0.463
2--
LRRIQ3p.H13N
Missense
SNP
0.415
2--
LRRIQ4p.P158L
Missense
SNP
0.444
2--
LRRK2p.H1584Y
Missense
SNP
0.511
2--
LRRN3p.E417K
Missense
SNP
0.510
2--
LRRTM1p.Q486K
Missense
SNP
0.541
2--
LRRTM3p.E413K
Missense
SNP
0.535
2--
LRRTM4p.P173S
Missense
SNP
0.489
2--
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSRp.X366_splice
Splice_Site
SNP
0.472
2--
LTBP4p.E515D
Missense
SNP
0.323
2--
LTF-
-
-
-
1Loss-
LTV1p.P390L
Missense
SNP
0.472
2--
LURAP1L-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYG1p.X15_splice
Splice_Site
DEL
0.468
2--
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYPLAL1p.L9P
Missense
SNP
0.287
2--
LYRM9p.P53S
Missense
SNP
0.484
2--
LYSTp.R2225H
p.P319L
Missense
Missense
SNP
SNP
0.504
0.504
2--
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
LZTS2p.P238S
Missense
SNP
0.577
2--
MAB21L1-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAGEA3p.Y269H
Missense
SNP
1.000
NDND-
MAGEB2p.K170E
Missense
SNP
0.990
NDND-
MAGEB4p.G212D
Missense
SNP
1.000
NDND-
MAGEB6P1p.S120L
Missense
SNP
0.976
NDND-
MAGEL2p.P1108L
p.P13S
Missense
Missense
SNP
SNP
0.509
0.516
2--
MAGI1-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MAMDC2p.D318V
Missense
SNP
0.428
2--
MAML1p.E248K
Missense
SNP
0.452
2--
MANF-
-
-
-
1Loss-
MAP2p.L1743F
Missense
SNP
0.389
2--
MAP2K7p.D405E
Missense
SNP
0.533
2--
MAP3K13p.G752E
p.C842Y
Missense
Missense
SNP
SNP
0.474
0.332
2--
MAP3K14p.P722S
Missense
SNP
0.500
2--
MAP4-
-
-
-
1Loss-
MAP4K2p.T401A
Missense
SNP
0.485
2--
MAP7D1p.G398Afs*34
Frame_Shift_Del
DEL
0.409
2--
MAPK15-
-
-
-
3Gain-
MAPK8p.H141Y
Missense
SNP
0.424
2--
MAPK8IP3p.K569del
In_Frame_Del
DEL
0.084
2--
MAPKAPK3-
-
-
-
1Loss-
MAPRE3p.C182Lfs*16
Frame_Shift_Ins
INS
0.306
2--
MARCH1p.A9V
Missense
SNP
0.423
2--
MARCH11-
-
-
-
4Gain-
MARCH6-
-
-
-
4Gain-
MAST4p.P1642L
Missense
SNP
0.455
2--
MATN2p.E930K
Missense
SNP
0.408
3Gain-
MBD2p.G158Dfs*7
Frame_Shift_Del
DEL
0.054
2--
MBL2p.C155Y
Missense
SNP
0.552
2--
MBNL2-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MC5Rp.Y180H
Missense
SNP
0.482
2--
MCAM-
-
-
-
1Loss-
MCF2Lp.V133I
Missense
SNP
0.697
3Gain-
MCM10-
-
-
-
3Gain-
MCM3p.I3V
Missense
SNP
0.581
2--
MCM4-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCPH1-
-
-
-
1Loss-
MDGA2p.E529K
Missense
SNP
0.468
2--
MDN1p.K1989Rfs*65
p.D4806N
Frame_Shift_Del
Missense
DEL
SNP
0.400
0.388
2--
ME1p.R8H
Missense
SNP
0.565
2--
MED10-
-
-
-
4Gain-
MED15p.Q453Sfs*41
Frame_Shift_Del
DEL
0.236
2--
MED16p.D623N
Missense
SNP
1.000
2--
MED23p.R1167*
Nonsense
SNP
0.459
2--
MED30-
-
-
-
3Gain-
MED4-
-
-
-
3Gain-
MEDAGp.G69Afs*29
Frame_Shift_Del
DEL
0.622
3Gain-
MEF2Cp.E71K
Missense
SNP
0.487
2--
MEGF10p.R71Q
Missense
SNP
0.463
2--
MEIG1-
-
-
-
3Gain-
MEIS3p.P191S
p.S4F
Missense
Missense
SNP
SNP
0.464
0.485
2--
MELK-
-
-
-
1Loss-
MEN1p.R521Gfs*43
Frame_Shift_Del
DEL
0.417
2--
METRNp.G255C
Missense
SNP
0.264
2--
METTL21C-
-
-
-
3Gain-
METTL25p.X459_splice
Splice_Site
SNP
0.486
2--
METTL4p.S56del
In_Frame_Del
DEL
0.439
2--
METTL6-
-
-
-
1Loss-
MEX3Dp.A374V
Missense
SNP
0.430
2--
MFHAS1-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD4Bp.C202Vfs*4
p.A187V
Frame_Shift_Del
Missense
DEL
SNP
0.485
0.086
2--
MFSD6p.P25L
Missense
SNP
0.477
2--
MGAMp.R98Q
Missense
SNP
0.487
2--
MGAM2p.P1815S
Missense
SNP
0.515
2--
MIB2p.A10Pfs*48
Frame_Shift_Del
DEL
0.581
2--
MICAL1p.T272A
Missense
SNP
0.498
2--
MICALL1p.E810K
Missense
SNP
0.377
2--
MICU2-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIEF1p.P150S
Missense
SNP
0.493
2--
MINDY3-
-
-
-
3Gain-
MINK1p.P246S
p.P250L
Missense
Missense
SNP
SNP
0.395
0.605
2--
MIPEP-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MKI67p.M746I
Missense
SNP
0.510
2--
MKLN1p.Q309*
Nonsense
SNP
0.426
2--
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLC1p.R22W
Missense
SNP
0.841
2--
MLH1p.X702_splice
Splice_Site
SNP
1.000
1Loss-
MLH3p.E586Nfs*24
Frame_Shift_Del
DEL
0.436
2--
MLLT3-
-
-
-
1Loss-
MLNR-
-
-
-
3Gain-
MLXIPp.P577S
Missense
SNP
0.481
2--
MMEL1p.A568Gfs*53
Frame_Shift_Ins
INS
0.290
2--
MMP16-
-
-
-
3Gain-
MMP20p.R273Q
Missense
SNP
0.475
2--
MMRN2p.A693T
Missense
SNP
0.676
2--
MOB3B-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON2p.F980Sfs*11
p.E1544Vfs*10
p.H652R
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.343
0.438
0.117
2--
MOS-
-
-
-
3Gain-
MPDZ-
-
-
-
1Loss-
MPHOSPH9p.S157Lfs*2
Frame_Shift_Del
DEL
0.413
2--
MPP7p.E134K
Missense
SNP
0.600
2--
MPRIPp.X426_splice
Splice_Site
SNP
0.407
2--
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRC1p.W728R
Missense
SNP
0.337
3Gain-
MRI1p.H330Tfs*24
Frame_Shift_Del
DEL
0.492
2--
MRM2p.S223N
Missense
SNP
0.088
2--
MROH1-
-
-
-
3Gain-
MROH2Bp.I1372Sfs*5
Frame_Shift_Del
DEL
0.157
4Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH9p.L605V
Missense
SNP
0.452
2--
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL36-
-
-
-
4Gain-
MRPL57-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRPS30p.L150P
Missense
SNP
0.306
4Gain-
MRPS31p.H17Y
Missense
SNP
0.697
3Gain-
MRVI1p.F788I
Missense
SNP
0.552
2--
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH5p.E424K
Missense
SNP
0.418
2--
MSI1p.X34_splice
Splice_Site
SNP
0.483
2--
MSMP-
-
-
-
1Loss-
MSNp.E178K
Missense
SNP
1.000
NDND-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSX1p.K139R
Missense
SNP
0.467
2--
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTHFD1p.D142N
Missense
SNP
0.543
2--
MTHFD1Lp.G650K
Missense
MNP
0.484
2--
MTHFRp.X344_splice
Splice_Site
SNP
0.444
2--
MTIF3-
-
-
-
3Gain-
MTMR12-
-
-
-
4Gain-
MTMR14-
-
-
-
1Loss-
MTMR4p.L534F
Missense
SNP
0.367
2--
MTMR6p.V236A
Missense
SNP
0.241
3Gain-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTRF1-
-
-
-
3Gain-
MTRR-
-
-
-
4Gain-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTUS2-
-
-
-
3Gain-
MTX3p.I35Lfs*26
Frame_Shift_Del
DEL
0.491
2--
MUC16p.T11847Qfs*15
p.S7713Lfs*5
p.R10425K
p.T10109A
p.S5258F
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
Missense
DEL
DEL
SNP
SNP
SNP
0.508
0.414
0.448
0.460
0.433
2--
MUC22p.G961C
Missense
SNP
0.500
2--
MUC5ACp.S2245F
p.S4208N
Missense
Missense
SNP
SNP
0.551
0.505
2--
MUSTN1-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2p.L2080F
Missense
SNP
0.753
3Gain-
MYD88-
-
-
-
1Loss-
MYH11p.T1786M
p.P573L
Missense
Missense
SNP
SNP
0.543
0.391
2--
MYH14p.V1526E
Missense
SNP
0.552
2--
MYH15p.A30V
Missense
SNP
0.569
2--
MYH3p.X894_splice
Splice_Site
SNP
0.536
2--
MYH4p.X1328_splice
p.E779K
Splice_Site
Missense
SNP
SNP
0.457
0.512
2--
MYH6p.V649M
Missense
SNP
0.561
2--
MYH7p.G181E
Missense
SNP
0.516
2--
MYH7Bp.T526N
Missense
SNP
0.536
2--
MYH8p.Q805*
Nonsense
SNP
0.470
2--
MYL10p.S45P
Missense
SNP
0.456
2--
MYL3-
-
-
-
1Loss-
MYLKp.S1345N
Missense
SNP
0.561
2--
MYO10-
-
-
-
4Gain-
MYO15Ap.E2962K
Missense
SNP
0.524
2--
MYO16p.N405T
Missense
SNP
0.713
3Gain-
MYO18Bp.A184T
p.P1511L
Missense
Missense
SNP
SNP
0.098
0.265
2--
MYO9Bp.G1292R
Missense
SNP
0.559
2--
MYOM1p.S715F
Missense
SNP
0.472
2--
MYOM2-
-
-
-
1Loss-
MYOM3p.P700Rfs*10
p.R513*
Frame_Shift_Del
Nonsense
DEL
SNP
0.155
0.493
2--
MYORG-
-
-
-
1Loss-
MYOZ3p.G14V
p.P167F
Missense
Missense
SNP
MNP
0.275
0.454
2--
MYPNp.I891*
Frame_Shift_Del
DEL
0.381
2--
MYRFp.S264Afs*8
p.K745Qfs*57
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.424
0.259
2--
MYRIP-
-
-
-
1Loss-
MZT1-
-
-
-
3Gain-
MZT2B-
-
-
-
1Loss-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA16p.E63Kfs*38
Frame_Shift_Del
DEL
0.331
3Gain-
NAA80-
-
-
-
1Loss-
NAAAp.H290N
Missense
SNP
0.389
2--
NADK2-
-
-
-
4Gain-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
3Gain-
NANPp.Y39C
Missense
SNP
0.527
2--
NAPRT-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAV3p.R398C
p.P2240S
Missense
Missense
SNP
SNP
0.474
0.367
2--
NAXD-
-
-
-
3Gain-
NBEAp.G1113E
p.P2655S
Missense
Missense
SNP
SNP
0.274
0.677
3Gain-
NBEAL2-
-
-
-
1Loss-
NBL1p.H208Tfs*?
Frame_Shift_Del
DEL
0.500
2--
NBN-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAM1p.V695I
Missense
SNP
0.986
1Loss-
NCAM2p.G326K
Missense
MNP
0.481
2--
NCAPD2p.A1162T
Missense
SNP
0.493
2--
NCAPD3-
-
-
-
1Loss-
NCKAP1Lp.D97N
Missense
SNP
0.313
2--
NCKIPSD-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3p.R683Q
p.M1407L
Missense
Missense
SNP
SNP
0.402
0.440
2--
NCOR1p.G1063D
Missense
SNP
0.449
2--
NDFIP2-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFS6-
-
-
-
4Gain-
NEBp.R8004H
p.S7788*
p.D2218G
Missense
Nonsense
Missense
SNP
SNP
SNP
0.387
0.475
0.489
2--
NECAB1-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK3p.S447F
Missense
SNP
0.629
3Gain-
NEK4-
-
-
-
1Loss-
NEK5p.S702N
Missense
SNP
0.637
3Gain-
NELL1p.Y472C
Missense
SNP
0.480
2--
NET1-
-
-
-
3Gain-
NEU2p.R204H
Missense
SNP
0.523
2--
NFATC2p.P296Lfs*7
Frame_Shift_Del
DEL
0.517
2--
NFATC3p.P404L
Missense
SNP
0.459
2--
NFIB-
-
-
-
1Loss-
NFKBIBp.P344Qfs*19
Frame_Shift_Del
DEL
0.495
2--
NFKBIEp.G34E
Missense
SNP
0.560
2--
NFRKB-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NHLRC3-
-
-
-
3Gain-
NHSL1p.L570*
p.S1251F
Frame_Shift_Del
Missense
DEL
SNP
0.429
0.451
2--
NICN1-
-
-
-
1Loss-
NIM1K-
-
-
-
4Gain-
NINp.G1159R
Missense
SNP
0.554
2--
NIPA1p.D66H
p.P91H
Missense
Missense
SNP
SNP
0.460
0.570
2--
NIPAL2-
-
-
-
3Gain-
NIPBL-
-
-
-
4Gain-
NISCH-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKD1p.H458dup
In_Frame_Ins
INS
0.227
2--
NKD2-
-
-
-
4Gain-
NKIRAS1-
-
-
-
1Loss-
NKTRp.S1333F
Missense
SNP
1.000
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN3p.A683T
Missense
SNP
0.991
NDND-
NLRP10p.M510T
Missense
SNP
0.447
2--
NLRP11p.Y587C
Missense
SNP
0.542
2--
NLRP13p.Y20Lfs*55
p.T243A
Frame_Shift_Ins
Missense
INS
SNP
0.344
0.503
2--
NLRP4p.V453M
p.G539E
Missense
Missense
SNP
SNP
0.559
0.487
2--
NLRX1-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NMT2-
-
-
-
3Gain-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
4Gain-
NOL4Lp.G413N
Missense
MNP
0.567
2--
NOL6-
-
-
-
1Loss-
NOL8p.N554S
Missense
SNP
0.307
2--
NOS1p.G676Afs*64
p.T1349M
Frame_Shift_Del
Missense
DEL
SNP
0.495
0.476
2--
NOS3p.P42Q
Missense
SNP
0.571
2--
NOTCH1p.G270Vfs*7
Frame_Shift_Del
DEL
0.945
2--
NOTCH2p.S1419Afs*8
p.D1451N;p.W1450*
Frame_Shift_Del
Nonsense
DEL
MNP
0.418
0.506
2--
NOV-
-
-
-
3Gain-
NPAP1p.N460T
p.P645S
Missense
Missense
SNP
SNP
0.522
0.453
2--
NPATp.S539L
Missense
SNP
0.564
1Loss-
NPBWR1-
-
-
-
3Gain-
NPBWR2p.R238K
Missense
SNP
0.573
2--
NPC2p.P86S
Missense
SNP
0.421
2--
NPEPL1p.V412A
Missense
SNP
0.463
2--
NPHP4p.P776S
p.V422I
Missense
Missense
SNP
SNP
0.529
0.448
2--
NPHS1p.R407W
Missense
SNP
0.498
2--
NPM2-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPR3-
-
-
-
4Gain-
NPRL2-
-
-
-
1Loss-
NPTNp.X204_splice
Splice_Site
SNP
0.563
2--
NPTX1p.W319*
Nonsense
MNP
0.520
2--
NPY1Rp.P278T
Missense
SNP
0.059
2--
NR1D2-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR2E1p.G72S
Missense
SNP
0.495
2--
NR4A2p.N294Mfs*7
Frame_Shift_Del
DEL
0.333
2--
NRASp.A91V
Missense
SNP
0.491
2--
NRBP2-
-
-
-
3Gain-
NRG1p.A93T
Missense
SNP
0.080
1Loss-
NRG3p.P553L
Missense
SNP
0.342
2--
NRGNp.P61Afs*23
Frame_Shift_Ins
INS
0.452
1Loss-
NRIP1p.E729Rfs*5
Frame_Shift_Del
DEL
0.099
2--
NRLp.R207C
Missense
SNP
0.518
2--
NRXN2p.A270Pfs*57
Frame_Shift_Del
DEL
0.488
2--
NRXN3p.N872S
Missense
SNP
0.485
2--
NSD3-
-
-
-
1Loss-
NSFp.L481F
Missense
SNP
0.251
2--
NSMAF-
-
-
-
3Gain-
NSMCE2p.Y209F
Missense
SNP
0.631
3Gain-
NSUN2-
-
-
-
4Gain-
NSUN3p.I43M
Missense
SNP
0.264
2--
NSUN6-
-
-
-
3Gain-
NSUN7p.R541W
Missense
SNP
0.495
2--
NT5DC2-
-
-
-
1Loss-
NT5DC3p.P51Rfs*3
Frame_Shift_Del
DEL
0.500
2--
NTM-
-
-
-
1Loss-
NTN5p.H124Y
Missense
SNP
0.515
2--
NUDCD1p.E451K
p.R292Q
Missense
Missense
SNP
SNP
0.646
0.204
3Gain-
NUDT15-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUDT5-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUP155-
-
-
-
4Gain-
NUP210-
-
-
-
1Loss-
NUP214p.A53S
Missense
SNP
1.000
2--
NUP58p.S170F
Missense
SNP
0.648
3Gain-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NYAP1p.N190Tfs*13
Frame_Shift_Del
DEL
0.085
2--
OAF-
-
-
-
1Loss-
OBSL1p.P804S
p.V686I
Missense
Missense
SNP
SNP
0.449
0.073
2--
OC90-
-
-
-
3Gain-
OCA2p.K614Sfs*14
Frame_Shift_Del
DEL
0.500
2--
ODF1-
-
-
-
3Gain-
OGDHp.P430S
Missense
SNP
0.504
2--
OGDHLp.P839L
Missense
SNP
0.469
2--
OGG1-
-
-
-
1Loss-
OLAHp.F107Lfs*5
Frame_Shift_Del
DEL
0.071
3Gain-
OLFM2p.R125K
Missense
SNP
0.520
2--
OLFM4-
-
-
-
3Gain-
OLFML2Ap.A3D
Missense
SNP
0.575
2--
OPCML-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OPRM1p.V2I
p.C397F
Missense
Missense
SNP
SNP
0.442
0.500
2--
OPTN-
-
-
-
3Gain-
OR10A7p.F107del
In_Frame_Del
DEL
0.411
2--
OR10D3-
-
-
-
1Loss-
OR10G3p.M60Hfs*12
Frame_Shift_Ins
INS
0.312
2--
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1p.T57M
Missense
SNP
0.213
2--
OR10K1p.R122C
Missense
SNP
0.502
2--
OR10S1-
-
-
-
1Loss-
OR10T2p.A199S
Missense
SNP
0.100
2--
OR13D1p.G138D
Missense
SNP
0.994
2--
OR13J1-
-
-
-
1Loss-
OR14K1p.I112N
Missense
SNP
0.484
2--
OR1L1p.G41E
Missense
SNP
1.000
2--
OR1L3p.E196K
Missense
SNP
1.000
2--
OR2A2p.A299T
Missense
SNP
0.464
2--
OR2B11p.S71F
Missense
SNP
0.488
2--
OR2G3p.T161A
Missense
SNP
0.552
2--
OR2G6p.G16R
Missense
SNP
0.416
2--
OR2M3p.S10F
p.S165F
Missense
Missense
SNP
SNP
0.353
0.463
2--
OR2M4p.E173K
Missense
SNP
0.483
2--
OR2S2-
-
-
-
1Loss-
OR2T1p.P211S
Missense
SNP
0.444
2--
OR2T10p.L114F
Missense
SNP
0.496
2--
OR2T27p.S7F
Missense
SNP
0.133
2--
OR2V2p.G305R
Missense
SNP
0.530
2--
OR3A2p.A161V
Missense
SNP
0.289
2--
OR4D5-
-
-
-
1Loss-
OR4F6p.R122Q
Missense
SNP
0.483
2--
OR4N5p.G204S
Missense
SNP
0.481
2--
OR51B5p.G91R
Missense
SNP
0.444
2--
OR56A3p.R231K
Missense
SNP
0.312
2--
OR5AR1p.V154L
Missense
SNP
0.420
2--
OR5AS1p.G253E
Missense
SNP
0.416
2--
OR5B12p.G70D
Missense
SNP
0.454
2--
OR5H2p.G247R
Missense
SNP
0.518
2--
OR5I1p.S93F
Missense
SNP
0.488
2--
OR5K1p.S156F
Missense
SNP
0.485
2--
OR5P3p.G151Vfs*4
Frame_Shift_Del
DEL
0.485
2--
OR6J1p.G2S
Missense
SNP
0.571
2--
OR6M1-
-
-
-
1Loss-
OR6P1p.A33Cfs*59
Frame_Shift_Ins
INS
0.268
2--
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8K3p.V77A
Missense
SNP
0.082
2--
OSBPL10-
-
-
-
1Loss-
OSBPL6p.P587S
Missense
SNP
0.440
2--
OSGIN2-
-
-
-
3Gain-
OSMR-
-
-
-
4Gain-
OSR2-
-
-
-
3Gain-
OTOGp.S300F
Missense
SNP
0.586
2--
OTUD6B-
-
-
-
3Gain-
OTUD7Bp.D154Efs*18
Frame_Shift_Ins
INS
0.266
2--
OTULIN-
-
-
-
4Gain-
OTULINL-
-
-
-
4Gain-
OVOS2p.I69T
Missense
SNP
0.592
NDND-
OXCT1-
-
-
-
4Gain-
OXER1p.S78Pfs*64
p.R393H
Frame_Shift_Del
Missense
DEL
SNP
0.554
0.581
2--
OXGR1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RY1p.W117*
Nonsense
SNP
0.559
2--
P4HA2p.E259Kfs*10
Frame_Shift_Del
DEL
0.469
2--
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PADI4p.K522Nfs*5
Frame_Shift_Del
DEL
0.416
2--
PAFAH1B2-
-
-
-
1Loss-
PAG1p.G19R
Missense
SNP
0.681
3Gain-
PAIP1-
-
-
-
4Gain-
PAK1p.P469S
Missense
SNP
0.475
2--
PAK5p.Q37*
Nonsense
SNP
0.456
2--
PALLDp.A123V
Missense
SNP
0.557
2--
PAN3-
-
-
-
3Gain-
PANX3-
-
-
-
1Loss-
PAPD7p.G489V
Missense
SNP
0.161
NDND-
PAPPA2p.S1686Vfs*4
p.V1725I
Frame_Shift_Del
Missense
DEL
SNP
0.270
0.534
2--
PARP10-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
3Gain-
PARPBPp.S176L
Missense
SNP
0.500
2--
PARVGp.R307Qfs*61
Frame_Shift_Ins
INS
0.319
2--
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX1p.G6R
Missense
SNP
0.351
2--
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
3Gain-
PAX9p.D316G
Missense
SNP
0.529
2--
PBK-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PCBD2p.D116Mfs*2
Frame_Shift_Del
DEL
0.454
2--
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
3Gain-
PCDH15p.P1534L
p.G1354E
p.I211N
Missense
Missense
Missense
SNP
SNP
SNP
0.319
0.595
0.478
3Gain-
PCDH17p.N765Kfs*2
p.S908F
Frame_Shift_Ins
Missense
INS
SNP
0.210
0.419
3Gain-
PCDH20-
-
-
-
3Gain-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA1p.C705G
Missense
SNP
0.529
2--
PCDHA12p.L700I
Missense
SNP
0.471
2--
PCDHA7p.P774S
Missense
SNP
0.496
2--
PCDHA8p.R635H
p.S668L
Missense
Missense
SNP
SNP
0.462
0.453
2--
PCDHB13p.L140S
Missense
SNP
0.563
2--
PCDHB14p.D128N
Missense
SNP
0.527
2--
PCDHB2p.G327R
Missense
SNP
0.490
2--
PCDHB4p.S517L
Missense
SNP
0.366
2--
PCDHGA1p.E803Gfs*31
p.V643M
Frame_Shift_Ins
Missense
INS
SNP
0.266
0.377
2--
PCDHGA12p.R80H
Missense
SNP
0.482
2--
PCDHGA4p.G409E
p.E444K
Missense
Missense
SNP
SNP
0.495
0.455
2--
PCDHGA5p.I288Ffs*33
Frame_Shift_Del
DEL
0.410
2--
PCDHGA6p.A206V
p.L621P
Missense
Missense
SNP
SNP
0.531
0.561
2--
PCDHGA8p.G275R
Missense
SNP
0.582
2--
PCDHGB6p.V578A
Missense
SNP
0.522
2--
PCED1Bp.S129F
p.N145S
Missense
Missense
SNP
SNP
0.498
0.494
2--
PCID2-
-
-
-
3Gain-
PCLOp.K5063Rfs*2
p.R5076Q
p.S4957N
p.G3427R;p.M3426I
p.N2707D
p.E811K
Frame_Shift_Del
Missense
Missense
Missense
Missense
Missense
DEL
SNP
SNP
MNP
SNP
SNP
0.642
0.326
0.526
0.464
0.568
0.531
2--
PCM1-
-
-
-
1Loss-
PCMTD1p.R253H
Missense
SNP
0.175
3Gain-
PCSK7-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDE10Ap.S677F
Missense
SNP
0.452
2--
PDE12-
-
-
-
1Loss-
PDE4Cp.T225I
Missense
SNP
0.470
2--
PDE7Ap.R48H
Missense
SNP
0.237
3Gain-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3p.P100S
Missense
SNP
0.554
2--
PDLIM5p.V233L
Missense
SNP
0.481
2--
PDP1p.Y224*
Frame_Shift_Del
DEL
0.314
3Gain-
PDPRp.L268F
Missense
SNP
0.404
2--
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDZD2p.C1191F
Missense
SNP
0.772
4Gain-
PDZD3-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PEG3p.Q1232E
p.K497T
Missense
Missense
SNP
SNP
0.486
0.423
2--
PENK-
-
-
-
3Gain-
PES1p.P125S
Missense
SNP
0.204
2--
PEX11Gp.P241S
Missense
SNP
0.441
2--
PEX2-
-
-
-
3Gain-
PFKFB2p.G315E
Missense
SNP
0.531
2--
PFKFB3-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKP-
-
-
-
3Gain-
PHACTR3p.E86K
Missense
SNP
0.511
2--
PHEXp.G575E
Missense
SNP
1.000
NDND-
PHF11-
-
-
-
3Gain-
PHF14p.P812L
Missense
SNP
0.447
2--
PHF19p.S126L
Missense
SNP
0.987
2--
PHF20L1p.I826*
Frame_Shift_Del
DEL
0.684
3Gain-
PHF24-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGR1p.H37Tfs*71
Frame_Shift_Del
DEL
0.481
2--
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHYH-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PIANPp.R49K
Missense
SNP
0.476
2--
PIBF1-
-
-
-
3Gain-
PIEZO2p.Q1534Afs*8
p.S2468R
Frame_Shift_Ins
Missense
INS
SNP
0.300
0.537
2--
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3R3p.E254K
Missense
SNP
0.466
2--
PIK3R4p.P420S
Missense
SNP
0.467
2--
PINX1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIP5K1Ap.D189E
Missense
SNP
0.531
2--
PITPNM1p.W803*
Nonsense
SNP
0.578
2--
PITPNM2p.M203I
Missense
SNP
0.428
2--
PITRM1-
-
-
-
3Gain-
PIWIL2-
-
-
-
1Loss-
PKHD1L1p.K2189Nfs*27
Frame_Shift_Del
DEL
0.601
3Gain-
PKIA-
-
-
-
3Gain-
PKNOX2-
-
-
-
1Loss-
PKP2p.E675K
p.R204C
Missense
Missense
SNP
SNP
0.492
0.510
2--
PLA2G12A-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL2p.W11Gfs*15
Frame_Shift_Del
DEL
0.489
2--
PLAT-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCG2-
-
-
-
2-UBA52--PLCG2
PLCH1p.L440I
Missense
SNP
0.447
2--
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
4Gain-
PLEC-
-
-
-
3Gain-
PLEKHA2-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG1p.G161E
p.A802T
Missense
Missense
SNP
SNP
0.507
0.524
2--
PLEKHG2p.Q1322Sfs*37
Frame_Shift_Del
DEL
0.460
2--
PLEKHG4B-
-
-
-
3Gain-
PLEKHM3p.Q414*
Nonsense
SNP
0.585
2--
PLET1-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN4p.A149V
Missense
SNP
0.478
2--
PLK3p.A453T
Missense
SNP
0.474
2--
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPP7p.G97E
Missense
SNP
0.995
2--
PLVAPp.S18F
Missense
SNP
0.433
2--
PLXNA4p.V605I
p.D351N
Missense
Missense
SNP
SNP
0.433
0.445
2--
PLXNB1-
-
-
-
1Loss-
PLXNB2p.T1532M
p.E1269D
Missense
Missense
SNP
SNP
0.889
0.068
2--
PMAIP1-
-
-
-
1Loss-
PMLp.A602T
Missense
SNP
0.552
2--
PMP2-
-
-
-
3Gain-
PNLIPp.K86I
Missense
MNP
0.469
2--
PNMA2-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POGLUT1p.A339V
Missense
SNP
0.519
2--
POLB-
-
-
-
1Loss-
POLD1p.R667W
Missense
SNP
0.517
2--
POLNp.K132R
Missense
SNP
0.477
2--
POLR1Bp.P569S
Missense
SNP
0.393
2--
POLR1D-
-
-
-
3Gain-
POLR1E-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POM121L12p.P46S
Missense
SNP
0.497
2--
POM121L2p.P60L
Missense
MNP
0.464
2--
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POTEF-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F4p.G149R
Missense
SNP
0.988
NDND-
POU4F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1Ap.G290E
Missense
SNP
0.460
2--
PPARGC1Bp.L361Q
Missense
SNP
0.500
2--
PPDPFL-
-
-
-
3Gain-
PPFIA3p.G595K
Missense
MNP
0.468
2--
PPFIBP1p.P572L
Missense
SNP
0.397
2--
PPIL6p.K107R
Missense
SNP
0.508
2--
PPM1Kp.T327I
Missense
SNP
0.553
2--
PPM1M-
-
-
-
1Loss-
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.129
2--
PPP1R13Bp.G111*
Nonsense
SNP
0.486
2--
PPP1R16A-
-
-
-
3Gain-
PPP1R26p.A152V
Missense
SNP
0.842
2--
PPP1R2P3p.M78I
Missense
SNP
0.510
NDND-
PPP1R3B-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2Bp.W412*
Nonsense
SNP
0.518
2--
PPP2R5Dp.A449T
Missense
SNP
0.341
2--
PPP3CC-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP4R3Ap.R156H
Missense
SNP
0.520
2--
PPT1p.M57Wfs*14
Frame_Shift_Del
DEL
0.726
2--
PRAG1-
-
-
-
1Loss-
PRB2p.P123Hfs*308
Frame_Shift_Del
DEL
0.419
2--
PRDM10-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM8p.L139W
Missense
SNP
0.392
2--
PRDM9-
-
-
-
4Gain-
PREX2p.P1555S
Missense
SNP
0.132
3Gain-
PRH1p.R46H
Missense
SNP
0.084
2--
PRH2p.R46H
Missense
SNP
0.239
2--
PRICKLE2-
-
-
-
1Loss-
PRKAA1-
-
-
-
4Gain-
PRKAA2-
-
-
-
3Gain-
PRKACGp.G32Efs*27
Frame_Shift_Del
DEL
0.437
2--
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCQp.E137D
Missense
SNP
0.321
3Gain-
PRKCSHp.E503K
Missense
SNP
0.495
2--
PRKCZp.G130N
Missense
MNP
0.517
2--
PRKD1p.P256R
Missense
SNP
0.282
2--
PRKDC-
-
-
-
3Gain-
PRKG2p.G646S
p.H106Y
Missense
Missense
SNP
SNP
0.568
0.525
2--
PRLRp.P83L
Missense
SNP
0.186
4Gain-
PRMT8p.S31Pfs*35
Frame_Shift_Del
DEL
0.396
2--
PRMT9p.E309D
Missense
SNP
0.492
2--
PROK2-
-
-
-
1Loss-
PROKR2p.E308K
Missense
SNP
0.500
2--
PROSER1p.A895S
Missense
SNP
0.390
3Gain-
PROSER2-
-
-
-
3Gain-
PROX2p.G202K
Missense
MNP
0.390
2--
PROZ-
-
-
-
3Gain-
PRPF18p.I297F
Missense
SNP
0.270
3Gain-
PRPF6p.R135C
Missense
SNP
0.459
2--
PRR13p.E144K
Missense
SNP
0.419
2--
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
3Gain-
PRR32p.P264S
Missense
SNP
1.000
NDND-
PRRC2Bp.V1093Sfs*77
Frame_Shift_Del
DEL
0.943
2--
PRRT3-
-
-
-
1Loss-
PRSS12p.R171*
Nonsense
SNP
0.549
2--
PRSS3-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRUNE2p.R583K
Missense
SNP
0.484
2--
PSCA-
-
-
-
3Gain-
PSDp.S75Hfs*37
p.R112K
Frame_Shift_Del
Missense
DEL
SNP
0.436
0.557
2--
PSD3-
-
-
-
1Loss-
PSD4p.G197R
Missense
SNP
0.473
2--
PSG8p.W181*
Nonsense
SNP
0.481
2--
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTER-
-
-
-
3Gain-
PTGER2p.E294K
Missense
SNP
0.484
2--
PTGER4-
-
-
-
4Gain-
PTGES3L-AARSD1p.A49V
Missense
SNP
0.471
2--
PTH1R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN23-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRNp.G31Afs*75
Frame_Shift_Del
DEL
0.485
2--
PTPRQp.Q1651*
Nonsense
SNP
0.414
2--
PTPRUp.L557M
Missense
SNP
0.423
2--
PTPRZ1p.S2081F
Missense
SNP
0.470
2--
PTSp.M71I
Missense
SNP
1.000
1Loss-
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURGp.R297H
Missense
SNP
0.958
1Loss-
PUS3-
-
-
-
1Loss-
PXDNp.H1423Y
Missense
SNP
0.532
2--
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
PYHIN1p.R211*
Nonsense
SNP
0.545
2--
QARS-
-
-
-
1Loss-
QKIp.K134Rfs*14
Frame_Shift_Del
DEL
0.503
2--
QPCTp.V29Sfs*20
Frame_Shift_Del
DEL
0.437
2--
QRICH1-
-
-
-
1Loss-
R3HCC1p.Q221P
Missense
SNP
1.000
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB20-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB39A-
-
-
-
1Loss-
RAB40Bp.T244P
Missense
SNP
0.404
2--
RAB5A-
-
-
-
1Loss-
RABGGTBp.X1_splice
Splice_Site
DEL
0.416
2--
RABL6p.P294S
Missense
SNP
1.000
2--
RAD1-
-
-
-
4Gain-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2p.F1309Sfs*34
Frame_Shift_Del
DEL
0.962
1Loss-
RADILp.G179E
Missense
SNP
0.471
2--
RAF1p.R391G
Missense
SNP
1.000
1Loss-
RAI14-
-
-
-
4Gain-
RALYL-
-
-
-
3Gain-
RANBP17p.P323S
Missense
SNP
0.627
2--
RANBP2-
-
-
-
3Gain-
RANBP3L-
-
-
-
4Gain-
RANBP6-
-
-
-
1Loss-
RANGRFp.E156K
Missense
SNP
0.390
2--
RAP2A-
-
-
-
3Gain-
RAPGEF1p.V540D
p.P236L
p.R25H
Missense
Missense
Missense
SNP
SNP
SNP
0.181
0.994
0.357
2--
RAPGEF3p.D161Y
Missense
SNP
0.473
2--
RARB-
-
-
-
1Loss-
RASA3-
-
-
-
3Gain-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL1p.A668V
Missense
SNP
0.413
2--
RASGEF1Cp.T21Pfs*26
Frame_Shift_Del
DEL
0.412
2--
RASGRF1p.E553K
Missense
SNP
0.578
2--
RASGRF2p.A34T
p.L968F
Missense
Missense
SNP
SNP
0.494
0.543
2--
RASL11A-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF2p.Q6*
Nonsense
SNP
0.494
2--
RAVER1p.R73C
Missense
SNP
0.475
2--
RAX-
-
-
-
1Loss-
RB1-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM19p.A918V
Missense
SNP
0.630
2--
RBM25p.V842A
Missense
SNP
0.385
2--
RBM26-
-
-
-
3Gain-
RBM5p.N745D
Missense
SNP
0.688
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL3p.G626R
Missense
SNP
0.985
NDND-
RBPMS-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1Lp.S186F
Missense
SNP
0.500
2--
RCC2p.A260T
Missense
SNP
0.299
2--
RCL1-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDX-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQLp.K80*
Nonsense
SNP
0.568
2--
RECQL4p.A204G
Missense
SNP
0.327
3Gain-
REEP4-
-
-
-
1Loss-
REG1Bp.S108F
Missense
SNP
0.410
2--
REG4p.A16S
Missense
SNP
0.474
2--
RELCH-
-
-
-
1Loss-
RELNp.W1654*
Nonsense
SNP
0.500
2--
REPIN1p.S430Pfs*?
Frame_Shift_Del
DEL
0.512
2--
RETREG1-
-
-
-
4Gain-
REXO1p.P476L
Missense
SNP
0.547
2--
REXO2-
-
-
-
1Loss-
RFC1p.E1097K
Missense
SNP
0.512
2--
RFC3-
-
-
-
3Gain-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX3p.I376V
p.Q303*
Missense
Nonsense
SNP
SNP
0.989
0.977
1Loss-
RFX6p.S381F
Missense
SNP
0.498
2--
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGP1-
-
-
-
1Loss-
RGS12p.A581Qfs*15
p.Q1292Rfs*49
p.K1176E
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.131
0.585
0.534
2--
RGS16p.E138K
Missense
SNP
0.532
2--
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS7p.R416Q
p.T209A
Missense
Missense
SNP
SNP
0.519
0.487
2--
RGSL1p.E309K
p.L948F
Missense
Missense
SNP
SNP
0.353
0.471
2--
RHBDL3p.L78F
Missense
SNP
0.535
2--
RHOA-
-
-
-
1Loss-
RHOBTB1p.I56M
Missense
SNP
0.435
2--
RHOBTB2-
-
-
-
1Loss-
RHOHp.K17Efs*47
Frame_Shift_Ins
INS
0.326
2--
RHPN1-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RICTOR-
-
-
-
4Gain-
RIDA-
-
-
-
3Gain-
RIMS1p.E844K
Missense
SNP
0.451
2--
RIMS2-
-
-
-
3Gain-
RIN3p.T35I
Missense
SNP
0.429
2--
RIPK2-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMDN3p.T386Lfs*22
Frame_Shift_Del
DEL
0.277
2--
RN7SL1-
-
-
-
NDNDRN7SL1--HSPG2
RNASEH1p.S284L
Missense
SNP
0.505
2--
RNASEH2B-
-
-
-
3Gain-
RNF113Ap.Y244C
Missense
SNP
1.000
NDND-
RNF113B-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF17-
-
-
-
3Gain-
RNF170-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF214-
-
-
-
1Loss-
RNF219-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF6-
-
-
-
3Gain-
RNGTTp.R330C
Missense
SNP
0.443
2--
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK1p.Y141Mfs*12
Frame_Shift_Del
DEL
0.366
2--
ROPN1L-
-
-
-
4Gain-
RP1p.L76Sfs*5
p.D611N
Frame_Shift_Del
Missense
DEL
SNP
0.557
0.595
3Gain-
RP11-766F14.2p.R1333*
Nonsense
SNP
0.440
NDND-
RP11-80H18.3p.M34V
Missense
SNP
1.000
NDND-
RP1L1-
-
-
-
1Loss-
RPAP3p.E122K
Missense
SNP
0.507
2--
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL21-
-
-
-
3Gain-
RPL30-
-
-
-
3Gain-
RPL32-
-
-
-
1Loss-
RPL37-
-
-
-
4Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPPH1-
-
-
-
NDNDRPPH1--SNORA73A
RPPH1--SNHG3
RPS2p.V128A
Missense
SNP
0.543
2--
RPS20-
-
-
-
3Gain-
RPS25-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA6p.S19G
Missense
SNP
0.992
NDND-
RPSA-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RREB1p.E1502Rfs*81
Frame_Shift_Del
DEL
0.436
2--
RRHp.G109R
Missense
SNP
0.302
3Gain-
RRM1p.L645F
Missense
SNP
0.440
2--
RRM2B-
-
-
-
3Gain-
RRP12p.P523S
Missense
SNP
0.508
2--
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSPO1p.E231K
Missense
SNP
0.496
2--
RSPO2-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTN1p.M10I
Missense
SNP
0.511
2--
RTN2p.R79M
Missense
SNP
0.470
2--
RTP3-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RXFP3-
-
-
-
4Gain-
RYBP-
-
-
-
1Loss-
RYR1p.G700S
Missense
SNP
0.493
2--
RYR3p.G255E
Missense
SNP
0.495
2--
SACM1L-
-
-
-
1Loss-
SACSp.I1110Lfs*16
Frame_Shift_Del
DEL
0.304
3Gain-
SALL3p.R1148W
p.P1239S
Missense
Missense
SNP
SNP
0.544
0.502
2--
SAMD12-
-
-
-
3Gain-
SAMD14p.Y371H
Missense
SNP
0.437
2--
SAMD9p.A364V
Missense
SNP
0.540
2--
SAP18-
-
-
-
3Gain-
SARAF-
-
-
-
1Loss-
SARDHp.G809R
Missense
SNP
0.994
2--
SATB1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBK2p.A299V
Missense
SNP
0.478
2--
SBSPON-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB1p.P304L
Missense
SNP
0.535
2--
SCEL-
-
-
-
3Gain-
SCGB3A1p.G83Vfs*8
Frame_Shift_Del
DEL
0.150
2--
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4Ap.N333S
Missense
SNP
0.476
2--
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN9Ap.P839L
Missense
SNP
0.492
2--
SCP2p.G320R
Missense
SNP
0.398
2--
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCUBE2p.V625I
Missense
SNP
0.504
2--
SCUBE3p.T274M
Missense
SNP
0.099
2--
SDAD1p.K275Rfs*15
Frame_Shift_Del
DEL
0.059
2--
SDC2-
-
-
-
3Gain-
SDC3p.P308L
Missense
SNP
0.476
2--
SDCBP-
-
-
-
3Gain-
SDF4p.G27R
Missense
SNP
0.526
2--
SDHA-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1p.S731I
p.E1324K
p.A1827V
Missense
Missense
Missense
SNP
SNP
SNP
0.355
0.433
0.059
2--
SDK2p.R2017Gfs*28
p.V1510Afs*36
p.D1888N
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.518
0.341
0.410
2--
SDPRp.R82*
Nonsense
SNP
0.476
NDND-
SDR16C5-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC16Bp.S434Vfs*29
Frame_Shift_Del
DEL
0.269
2--
SEC22C-
-
-
-
1Loss-
SEC24Bp.G916E
Missense
SNP
0.491
2--
SEC24Cp.T342Yfs*39
Frame_Shift_Ins
INS
0.297
2--
SEC61A2-
-
-
-
3Gain-
SEC61Bp.M55Cfs*22
Frame_Shift_Del
DEL
0.408
2--
SELENOK-
-
-
-
1Loss-
SELENOP-
-
-
-
4Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3Ep.L314Cfs*11
Frame_Shift_Del
DEL
0.448
2--
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA5A-
-
-
-
4Gain-
SEMA5Bp.P1142S
Missense
SNP
0.621
2--
SEPHS1-
-
-
-
3Gain-
SEPT10-
-
-
-
3Gain-
SEPT14p.E230G
Missense
SNP
0.538
2--
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERP2-
-
-
-
3Gain-
SERPINA10p.K216Q
Missense
SNP
0.511
2--
SERPINA2p.V232E
Missense
SNP
0.397
NDND-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE3-
-
-
-
3Gain-
SERTAD2p.R8W
Missense
SNP
0.472
2--
SERTM1-
-
-
-
3Gain-
SESTD1p.K186N
Missense
SNP
0.490
2--
SETBP1p.P981S
Missense
SNP
0.528
2--
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB2-
-
-
-
3Gain-
SETXp.R745C
Missense
SNP
1.000
2--
SF3A1p.S445F
Missense
SNP
0.208
2--
SF3B1p.R238C
Missense
SNP
0.496
2--
SFMBT1p.P106L
Missense
SNP
0.964
1Loss-
SFMBT2-
-
-
-
3Gain-
SFRP1-
-
-
-
1Loss-
SFSWAPp.P452Rfs*8
Frame_Shift_Del
DEL
0.131
2--
SFTPC-
-
-
-
1Loss-
SFXN2p.H26Q
Missense
SNP
0.365
2--
SFXN3p.L285Cfs*14
Frame_Shift_Del
DEL
0.131
2--
SGCG-
-
-
-
3Gain-
SGCZ-
-
-
-
1Loss-
SGK223p.G1140R
Missense
SNP
0.974
NDND-
SGK3-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGO2p.F648Sfs*14
Frame_Shift_Del
DEL
0.378
2--
SGSM1p.G714R
Missense
SNP
0.379
2--
SH2D4A-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3RF3-
-
-
-
3Gain-
SH3TC2p.V568M
Missense
SNP
0.436
2--
SHANK1p.P1511S
p.E1465K
Missense
Missense
SNP
SNP
0.505
0.403
2--
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
1Loss-
SHC3p.G411K
Missense
MNP
0.530
2--
SHISA2-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA8p.G134Rfs*234
Frame_Shift_Ins
INS
0.144
2--
SHISA9p.E56K
Missense
SNP
0.520
2--
SHQ1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH3p.R119P
Missense
SNP
0.246
3Gain-
SIDT2-
-
-
-
1Loss-
SIGIRRp.L273P
Missense
SNP
0.355
2--
SIGLEC12p.W199C
p.N131S
Missense
Missense
SNP
SNP
0.533
0.531
2--
SIGMAR1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIPA1p.A587T
Missense
SNP
0.475
2--
SIT1-
-
-
-
1Loss-
SIX1p.S284F
Missense
SNP
0.588
2--
SKA3-
-
-
-
3Gain-
SKOR1p.S147G
Missense
SNP
0.479
2--
SKP2-
-
-
-
4Gain-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A7-
-
-
-
4Gain-
SLC13A5p.S430F
Missense
SNP
0.519
2--
SLC15A1-
-
-
-
3Gain-
SLC16A12p.F73Lfs*22
Frame_Shift_Del
DEL
0.268
2--
SLC17A8p.G521R
Missense
SNP
0.447
2--
SLC18A1-
-
-
-
1Loss-
SLC18A2p.W451R
Missense
SNP
0.497
2--
SLC1A1-
-
-
-
1Loss-
SLC1A3-
-
-
-
4Gain-
SLC20A1p.D409G
Missense
SNP
0.482
2--
SLC20A2-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15p.S500L
Missense
SNP
0.448
2--
SLC22A9p.G103R
Missense
SNP
0.511
2--
SLC24A1p.P112S
Missense
SNP
0.564
2--
SLC24A2-
-
-
-
1Loss-
SLC24A4p.E296K
Missense
SNP
0.477
2--
SLC25A15-
-
-
-
3Gain-
SLC25A20-
-
-
-
1Loss-
SLC25A24p.D176Y
Missense
SNP
0.369
2--
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
3Gain-
SLC25A32p.R22Q
Missense
SNP
0.657
3Gain-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A39p.C334R
Missense
SNP
0.451
2--
SLC25A51-
-
-
-
1Loss-
SLC26A2p.V162M
Missense
SNP
0.500
2--
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
3Gain-
SLC2A11p.G163R
Missense
SNP
0.368
2--
SLC2A2p.E282Kfs*10
p.Y325C
Frame_Shift_Del
Missense
DEL
SNP
0.465
0.544
2--
SLC30A8-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A10p.Y62Ifs*4
Frame_Shift_Ins
INS
0.312
2--
SLC39A12-
-
-
-
3Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC44A3p.L62F
Missense
SNP
0.397
2--
SLC44A4p.F618Sfs*25
Frame_Shift_Del
DEL
0.584
2--
SLC45A2-
-
-
-
4Gain-
SLC45A4p.Y586C
Missense
SNP
0.645
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC4A10p.I542M
p.L557F
Missense
Missense
SNP
SNP
0.492
0.460
2--
SLC4A3p.G706D
Missense
SNP
0.114
2--
SLC4A7-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC5A7p.D469N
Missense
SNP
0.510
2--
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A16p.T85A
Missense
SNP
0.451
2--
SLC6A18-
-
-
-
4Gain-
SLC6A19-
-
-
-
4Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3p.E36K
Missense
SNP
0.215
4Gain-
SLC6A6-
-
-
-
1Loss-
SLC7A1-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A14p.P113S
p.L27I
Missense
Missense
SNP
SNP
0.402
0.467
2--
SLC7A2-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9C1p.M95I
Missense
SNP
0.480
2--
SLCO3A1p.E667K
Missense
SNP
0.415
2--
SLCO5A1p.Y222Tfs*6
p.E460Q
Frame_Shift_Del
Missense
DEL
SNP
0.632
0.680
3Gain-
SLFN12p.S227F
Missense
SNP
0.500
2--
SLIT2p.G909S
Missense
SNP
0.630
2--
SLIT3p.K561N
p.Q144H
Missense
Missense
SNP
SNP
0.419
0.406
2--
SLITRK1-
-
-
-
3Gain-
SLITRK2p.S663Kfs*13
Frame_Shift_Ins
INS
0.468
NDND-
SLITRK3p.S528F
p.G65E
Missense
Missense
SNP
SNP
0.388
0.618
2--
SLITRK5p.S346F
p.G441R
p.S701N
Missense
Missense
Missense
SNP
SNP
SNP
0.335
0.581
0.116
3Gain-
SLITRK6-
-
-
-
3Gain-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD9p.A247S
Missense
SNP
0.333
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCA4p.K546del
In_Frame_Del
DEL
0.142
2--
SMARCC1-
-
-
-
1Loss-
SMC1Bp.N191Ifs*2
Frame_Shift_Del
DEL
0.400
2--
SMG1p.F3008Lfs*10
p.G2889C
Frame_Shift_Del
Missense
DEL
SNP
0.540
0.464
2--
SMG7p.M803*
p.G647R
Frame_Shift_Del
Missense
DEL
SNP
0.133
0.505
2--
SMIM11B-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM27-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOp.P705S
Missense
SNP
0.410
2--
SMOXp.P236L
Missense
SNP
0.516
2--
SMPD3p.R164W
Missense
SNP
0.508
2--
SMPD4-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMYD3p.Q388Kfs*3
p.S289F
Frame_Shift_Del
Missense
DEL
SNP
0.517
0.524
2--
SNAI2-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNED1p.P1222Rfs*35
Frame_Shift_Del
DEL
0.154
2--
SNHG3-
-
-
-
NDNDAL355075.4--SNHG3
RPPH1--SNHG3
SNORA52-
-
-
-
NDNDHIST1H2BO--SNORA52
SNORA73A-
-
-
-
NDNDAL355075.4--SNORA73A
RPPH1--SNORA73A
SNRK-
-
-
-
1Loss-
SNTB1p.W212*
Nonsense
SNP
0.319
3Gain-
SNTG1p.R354Q
Missense
SNP
0.351
3Gain-
SNTN-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX17p.R302C
Missense
SNP
0.531
2--
SNX19-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SOAT1p.R350W
Missense
SNP
0.458
2--
SOCS7p.P334S
Missense
SNP
0.493
2--
SOD3p.A95T
Missense
SNP
0.534
2--
SOGA3p.V946Cfs*28
Frame_Shift_Ins
INS
0.352
2--
SOHLH2-
-
-
-
3Gain-
SORBS3-
-
-
-
1Loss-
SORCS1p.P315Q
p.A113V
Missense
Missense
SNP
SNP
0.448
0.513
2--
SORCS2p.F241Y
Missense
SNP
0.445
2--
SORCS3p.G943R
Missense
SNP
0.528
2--
SORL1p.V2209I
Missense
SNP
1.000
1Loss-
SOWAHAp.P148Rfs*23
Frame_Shift_Del
DEL
0.543
2--
SOWAHBp.E114Sfs*133
Frame_Shift_Del
DEL
0.324
2--
SOX1-
-
-
-
3Gain-
SOX11p.E36K
Missense
SNP
0.483
2--
SOX17-
-
-
-
3Gain-
SOX21-
-
-
-
3Gain-
SOX4p.S394T
Missense
SNP
0.493
2--
SOX6p.G777K
Missense
MNP
0.366
2--
SOX7-
-
-
-
1Loss-
SP140p.P292L
Missense
SNP
0.491
2--
SPA17-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11Bp.F94S
Missense
SNP
0.543
1Loss-
SPAG16p.X93_splice
p.G311D
Splice_Site
Missense
SNP
SNP
0.398
0.333
2--
SPAG8-
-
-
-
1Loss-
SPART-
-
-
-
3Gain-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
3Gain-
SPATA18p.E146K
Missense
SNP
0.353
2--
SPATA19-
-
-
-
1Loss-
SPATA31A1-
-
-
-
1Loss-
SPATA31A3-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA31D1p.G332D
p.M1249I
Missense
Missense
SNP
SNP
0.102
0.552
2--
SPATA31E1p.P1043L
p.G1280S
Missense
Missense
SNP
SNP
0.444
0.464
2--
SPATA6L-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPDEFp.E188K
Missense
SNP
0.490
2--
SPDYCp.G193W
Missense
SNP
0.466
2--
SPDYE2B-
-
-
-
1Loss-
SPEF2p.S988L
Missense
SNP
0.725
4Gain-
SPEGp.G2057C
Missense
SNP
0.419
2--
SPERT-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPINK4-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPOCD1p.R71W
Missense
SNP
0.485
2--
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SPSB3p.H89N
Missense
SNP
0.616
2--
SPTA1p.E1707K
p.G1243E
Missense
Missense
SNP
SNP
0.462
0.500
2--
SPTBp.W63*
Nonsense
SNP
0.441
2--
SPTBN2p.Q263*
Nonsense
SNP
0.508
2--
SQLE-
-
-
-
3Gain-
SRBD1p.H829Y
Missense
SNP
0.412
2--
SRCp.G29K
p.P171S
Missense
Missense
MNP
SNP
0.456
0.477
2--
SRCAPp.R945*
Nonsense
SNP
0.484
2--
SRCIN1p.A358D
Missense
SNP
0.603
2--
SRD5A1-
-
-
-
4Gain-
SRGAP3-
-
-
-
1Loss-
SRP72p.V9Cfs*10
Frame_Shift_Del
DEL
0.460
2--
SRPRA-
-
-
-
1Loss-
SRRM1p.K37Rfs*4
Frame_Shift_Del
DEL
0.554
2--
SS18L2-
-
-
-
1Loss-
SSMEM1p.M101I
Missense
SNP
0.417
2--
SSNA1p.E37del
In_Frame_Del
DEL
0.195
2--
SSPOp.G4008Afs*21
p.H3147Y
Frame_Shift_Del
Missense
DEL
SNP
0.304
0.471
2--
SSUH2-
-
-
-
1Loss-
SSX1p.L104H
Missense
SNP
1.000
NDND-
ST14-
-
-
-
1Loss-
ST18p.T583S
Missense
SNP
0.256
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC3p.E75_E76del
In_Frame_Del
DEL
0.384
2--
STAM-
-
-
-
3Gain-
STAMBPL1p.K405Rfs*21
Frame_Shift_Del
DEL
0.519
2--
STAR-
-
-
-
1Loss-
STARD13-
-
-
-
3Gain-
STATHp.G31E
Missense
SNP
0.500
2--
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STC2p.N152S
Missense
SNP
0.473
2--
STEAP4p.G35R
Missense
SNP
0.402
2--
STILp.P10S
Missense
SNP
0.633
2--
STIMATE-
-
-
-
1Loss-
STK10p.S387F
Missense
SNP
0.420
2--
STK24-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK31p.P701L
Missense
SNP
0.449
2--
STK32Bp.E226K
Missense
SNP
0.513
2--
STK38Lp.W149*
Nonsense
SNP
0.467
2--
STMN2-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STOMp.F83Lfs*14
Frame_Shift_Del
DEL
0.439
2--
STOML2-
-
-
-
1Loss-
STOML3-
-
-
-
3Gain-
STPG1p.T215Pfs*5
Frame_Shift_Del
DEL
0.457
2--
STRCp.L1297Sfs*29
Frame_Shift_Del
DEL
0.442
2--
STRIP2p.R696Q
Missense
SNP
0.587
2--
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
SUB1-
-
-
-
4Gain-
SUCLA2p.M61L
Missense
SNP
0.301
3Gain-
SUCLG2-
-
-
-
1Loss-
SUGT1-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SULF2p.E393K
Missense
SNP
0.483
2--
SULT4A1p.S174F
Missense
SNP
0.325
2--
SUMF2p.X111_splice
Splice_Site
SNP
0.465
2--
SUPT16Hp.Y567N
Missense
SNP
0.441
2--
SUPT20H-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SVILp.A765E
Missense
SNP
0.092
2--
SWAP70p.E457K
Missense
SNP
0.574
2--
SYBU-
-
-
-
3Gain-
SYCE1p.G314E
Missense
SNP
0.481
2--
SYCP2p.S850Afs*5
Frame_Shift_Del
DEL
0.105
2--
SYN1p.G160R
Missense
SNP
0.979
NDND-
SYN2-
-
-
-
1Loss-
SYNCp.E370K
Missense
SNP
0.572
2--
SYNE1p.R3253I
Missense
SNP
0.463
2--
SYNE2p.N1656Mfs*19
p.Q2620*
p.Q2881*
Frame_Shift_Del
Nonsense
Nonsense
DEL
SNP
SNP
0.571
0.449
0.498
2--
SYNJ2p.P1113Lfs*5
Frame_Shift_Del
DEL
0.551
2--
SYNPR-
-
-
-
1Loss-
SYNRGp.P86H
Missense
SNP
0.500
2--
SYT1p.F154S
p.S309F
Missense
Missense
SNP
SNP
0.465
0.466
2--
SYT17p.D385N
Missense
SNP
0.503
2--
SYT4p.E403D
Missense
SNP
0.357
2--
SZT2p.Q1379*
p.W2051*
Nonsense
Nonsense
SNP
MNP
0.481
0.497
2--
TAAR8p.T144I
Missense
SNP
0.437
2--
TACC1-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF3p.R314H
Missense
SNP
0.340
3Gain-
TAF5p.D408Ifs*25
Frame_Shift_Del
DEL
0.424
2--
TAGLN-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TAOK1p.G909D
Missense
SNP
0.489
2--
TAOK2p.R285W
p.P1022S
Missense
Missense
SNP
SNP
0.413
0.429
2--
TARSp.X361_splice
Splice_Site
SNP
0.145
4Gain-
TAS2R1-
-
-
-
4Gain-
TAS2R38p.S74I
Missense
SNP
0.498
2--
TATp.P81S
Missense
SNP
0.420
2--
TATDN1-
-
-
-
3Gain-
TATDN2p.S340F
Missense
SNP
1.000
1Loss-
TBATAp.S210R
Missense
SNP
0.394
2--
TBC1D14p.F543Lfs*9
Frame_Shift_Del
DEL
0.476
2--
TBC1D20p.R261H
Missense
SNP
0.500
2--
TBC1D21p.D333N
Missense
SNP
0.376
2--
TBC1D2Bp.E608K
Missense
SNP
0.516
2--
TBC1D3-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D3C-
-
-
-
1Loss-
TBC1D3D-
-
-
-
1Loss-
TBC1D3E-
-
-
-
1Loss-
TBC1D3K-
-
-
-
1Loss-
TBC1D3L-
-
-
-
1Loss-
TBC1D4p.R293W
p.E61D
Missense
Missense
SNP
SNP
0.370
0.701
3Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D7p.P289L
Missense
MNP
0.482
2--
TBC1D9Bp.A959V
Missense
SNP
0.438
2--
TBCDp.G834E
Missense
SNP
0.420
2--
TBCEL-
-
-
-
1Loss-
TBCKp.Y579H
Missense
SNP
0.527
2--
TBL1XR1p.N126Mfs*16
Frame_Shift_Del
DEL
0.518
2--
TBPp.P26S
Missense
SNP
0.402
2--
TBRG1-
-
-
-
1Loss-
TBX21p.G465E
Missense
SNP
0.475
2--
TBX3p.G529Afs*103
Frame_Shift_Del
DEL
0.480
2--
TBX4p.P371Lfs*8
Frame_Shift_Del
DEL
0.405
2--
TBX6p.P275S
Missense
SNP
0.576
2--
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCERG1Lp.L256F
Missense
SNP
0.462
2--
TCF24-
-
-
-
3Gain-
TCF7L1p.P563L
Missense
SNP
0.456
2--
TCF7L2p.E29del
In_Frame_Del
DEL
0.500
2--
TCIM-
-
-
-
1Loss-
TCP10Lp.G214Vfs*26
Frame_Shift_Del
DEL
0.072
2--
TCP11p.Q43Pfs*24
Frame_Shift_Ins
INS
0.238
2--
TCTA-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDRD3-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TECPR2p.P1329L
Missense
SNP
0.417
2--
TECTAp.K904E
Missense
SNP
0.993
1Loss-
TEKp.V86Lfs*31
Frame_Shift_Del
DEL
0.688
1Loss-
TENM4p.L936Wfs*4
Frame_Shift_Del
DEL
0.057
2--
TENT4A-
-
-
-
4Gain-
TEP1p.Y821N
p.P693S
Missense
Missense
SNP
SNP
0.474
0.404
2--
TERF1-
-
-
-
3Gain-
TERT-
-
-
-
4Gain-
TESK1-
-
-
-
1Loss-
TET1p.Q1323H
p.K1769E
Missense
Missense
SNP
SNP
0.451
0.459
2--
TET3p.P133S
Missense
SNP
0.321
2--
TEX10p.V73I
Missense
SNP
0.565
2--
TEX11p.W764R
Missense
SNP
1.000
NDND-
TEX12-
-
-
-
1Loss-
TEX14p.V37M
Missense
SNP
0.309
2--
TEX15p.D1344N
Missense
SNP
0.994
1Loss-
TEX26-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TFAP2Dp.H75Y
p.P313S
Missense
Missense
SNP
SNP
0.499
0.497
2--
TFDP1-
-
-
-
3Gain-
TGp.Q182*
p.M673I
Nonsense
Missense
SNP
SNP
0.403
0.332
3Gain-
TGDS-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGIF2LXp.H131Y
Missense
SNP
1.000
NDND-
TGM4-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
1Loss-
THAP5p.Q186R
Missense
SNP
0.415
2--
THAP9p.F341Lfs*2
Frame_Shift_Del
DEL
0.466
2--
THBS4p.N610S
Missense
SNP
0.429
2--
THEM6-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THRAP3p.S234A
p.P905S
Missense
Missense
SNP
SNP
0.504
0.425
2--
THRB-
-
-
-
1Loss-
THRSPp.Q50*
Nonsense
SNP
0.484
2--
THSD1-
-
-
-
3Gain-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIA1p.P187L
Missense
SNP
0.491
2--
TICRRp.C1626Afs*56
Frame_Shift_Del
DEL
0.331
2--
TIGD3p.Q115*
Nonsense
SNP
0.486
2--
TIGD5-
-
-
-
3Gain-
TIGD7p.R499K
Missense
SNP
0.486
2--
TIMM8B-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TK2p.S21I
Missense
SNP
0.541
2--
TKFCp.A187T
Missense
SNP
0.581
2--
TKT-
-
-
-
1Loss-
TKTL1p.I264Hfs*2
Frame_Shift_Ins
INS
0.463
NDND-
TLL1p.R867_V869del
In_Frame_Del
DEL
0.381
2--
TLN1p.E1421Q
Missense
SNP
0.688
1Loss-
TLR4p.E225K
Missense
SNP
0.997
2--
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM9SF2-
-
-
-
3Gain-
TMA16p.V16Sfs*25
Frame_Shift_Del
DEL
0.441
2--
TMA7-
-
-
-
1Loss-
TMC4p.E133K
Missense
SNP
0.496
2--
TMCO3-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM132Ep.I378S
Missense
SNP
0.430
2--
TMEM136-
-
-
-
1Loss-
TMEM139p.Y209Mfs*10
Frame_Shift_Del
DEL
0.484
2--
TMEM143p.G261S
Missense
SNP
0.598
2--
TMEM158-
-
-
-
1Loss-
TMEM168p.S130F
Missense
SNP
0.406
2--
TMEM215-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM230p.A72T
Missense
SNP
0.088
2--
TMEM236-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM259p.T199M
Missense
SNP
1.000
2--
TMEM267-
-
-
-
4Gain-
TMEM272-
-
-
-
3Gain-
TMEM30Ap.Y122S
Missense
SNP
0.571
2--
TMEM40-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM52Bp.A53V
Missense
SNP
0.132
2--
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM80p.T110M
Missense
SNP
0.052
2--
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM9p.L59M
Missense
SNP
0.378
2--
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5p.A430T
Missense
SNP
1.000
1Loss-
TMTC3p.H67L
Missense
SNP
0.344
2--
TMTC4-
-
-
-
3Gain-
TMUB1p.S127F
Missense
SNP
0.487
2--
TNCp.R1309C
Missense
SNP
1.000
2--
TNFAIP8L3p.G28R
Missense
SNP
0.493
2--
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFRSF4p.S24R
Missense
SNP
0.333
2--
TNFSF11-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNK2p.P711Afs*4
p.Q571Sfs*3
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.255
0.392
2--
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNPO3p.Q271Rfs*4
Frame_Shift_Del
DEL
0.471
2--
TNRC6Bp.H1671N
Missense
SNP
0.518
2--
TNS3p.L693M
Missense
SNP
0.596
2--
TNXBp.G1057E
p.G185R
Missense
Missense
SNP
SNP
0.604
0.481
2--
TOMM5-
-
-
-
1Loss-
TONSL-
-
-
-
3Gain-
TOP1MTp.P16T
Missense
SNP
0.207
3Gain-
TOP2Ap.R1435Gfs*13
Frame_Shift_Del
DEL
0.089
2--
TOP2B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOX-
-
-
-
3Gain-
TP53p.Q317R
p.P278A
p.W91*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.450
0.536
0.492
2--
TP53AIP1-
-
-
-
1Loss-
TP53BP1p.E716Nfs*12
Frame_Shift_Del
DEL
0.480
2--
TP53BP2p.P92Lfs*6
Frame_Shift_Del
DEL
0.521
2--
TP53INP1-
-
-
-
3Gain-
TP73p.S492I
Missense
SNP
0.448
2--
TPD52-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPP2p.S566F
Missense
SNP
0.672
3Gain-
TPPP-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTE-
-
-
-
1Loss-
TRAF1p.P79L
Missense
SNP
1.000
2--
TRAF3IP2p.M52Nfs*41
Frame_Shift_Ins
INS
0.340
2--
TRAFD1p.D6Y
p.Q253K
Missense
Missense
SNP
SNP
0.512
0.528
2--
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC10p.P1021Lfs*23
Frame_Shift_Del
DEL
0.106
2--
TRAPPC4-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRAV2p.E101Gfs*?
Frame_Shift_Ins
INS
0.347
NDND-
TRAV26-1p.D18N
Missense
SNP
0.631
NDND-
TRBV5-5p.A106V
Missense
SNP
0.457
NDND-
TRDMT1-
-
-
-
3Gain-
TREH-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRGV5p.W3R
Missense
SNP
0.493
NDND-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRILp.P674S
Missense
SNP
0.500
2--
TRIM13-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM36p.G408E
Missense
SNP
0.490
2--
TRIM39p.L290F
Missense
SNP
0.531
2--
TRIM44p.A206Gfs*15
Frame_Shift_Ins
INS
0.292
2--
TRIM5p.P323S
Missense
SNP
0.434
2--
TRIM55-
-
-
-
3Gain-
TRIM63p.R45L
Missense
SNP
0.508
2--
TRIM71-
-
-
-
1Loss-
TRIML2p.V52M
Missense
SNP
0.500
2--
TRIO-
-
-
-
4Gain-
TRIOBPp.D62A
Missense
SNP
0.432
2--
TRIP12p.G1332S
p.X424_splice
Missense
Splice_Site
SNP
SNP
0.440
0.516
2--
TRIP13-
-
-
-
4Gain-
TRIQK-
-
-
-
3Gain-
TRMT10B-
-
-
-
1Loss-
TRMT10Cp.K139R
Missense
SNP
0.396
2--
TRMT12-
-
-
-
3Gain-
TRMT2Ap.P146L
Missense
SNP
0.489
2--
TRMT5p.H333Y
Missense
SNP
0.521
2--
TRMT9B-
-
-
-
1Loss-
TROp.G1128S
Missense
SNP
1.000
NDND-
TRPA1-
-
-
-
3Gain-
TRPC4-
-
-
-
3Gain-
TRPC7p.Q83*
Nonsense
SNP
0.106
2--
TRPM2p.A177Pfs*6
Frame_Shift_Del
DEL
0.303
2--
TRPM5p.G1093W
Missense
SNP
0.412
2--
TRPS1-
-
-
-
3Gain-
TRPV2p.M39I
Missense
SNP
0.493
2--
TRPV4p.R249H
Missense
SNP
0.488
2--
TRRAPp.R1015W
Missense
SNP
0.455
2--
TSC2p.A1429V
Missense
SNP
0.532
2--
TSC22D1-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSHZ1p.D71G
p.W892*
Missense
Nonsense
SNP
SNP
0.622
0.539
2--
TSNARE1-
-
-
-
3Gain-
TSPYL5-
-
-
-
3Gain-
TSTA3-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC23L-
-
-
-
4Gain-
TTC33-
-
-
-
4Gain-
TTC36-
-
-
-
1Loss-
TTC37p.Q1468*
Nonsense
SNP
0.518
2--
TTC39B-
-
-
-
1Loss-
TTC7Bp.A833V
Missense
SNP
0.412
2--
TTI2-
-
-
-
1Loss-
TTKp.K857Nfs*36
Frame_Shift_Del
DEL
0.537
2--
TTLL3-
-
-
-
1Loss-
TTLL4p.Q129P
p.K688N
Missense
Missense
SNP
SNP
0.474
0.507
2--
TTNp.F6763Lfs*7
p.Y31580N
p.G28618K
p.E14315A
p.P11528L
p.S5136L
p.W3090*
p.P68L
Frame_Shift_Del
Missense
Missense
Missense
Missense
Missense
Nonsense
Missense
DEL
SNP
MNP
SNP
SNP
SNP
SNP
SNP
0.412
0.473
0.491
0.513
0.435
0.482
0.418
0.412
2--
TTPA-
-
-
-
3Gain-
TUBAL3p.V188M
Missense
SNP
0.308
3Gain-
TUBB8-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TUBGCP5p.M527*
Frame_Shift_Del
DEL
0.496
2--
TULP2p.E217K
Missense
SNP
0.497
2--
TULP4p.R403Afs*24
p.S530F
Frame_Shift_Del
Missense
DEL
SNP
0.333
0.381
2--
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT1p.F54Sfs*29
Frame_Shift_Del
DEL
0.532
2--
TWF2-
-
-
-
1Loss-
TWISTNBp.K311Rfs*15
Frame_Shift_Del
DEL
0.498
2--
TXKp.R394K
Missense
SNP
0.566
2--
TXLNBp.G113E
Missense
SNP
0.525
2--
TYRP1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UBA1p.N1041K
Missense
SNP
1.000
NDND-
UBA2p.L523P
Missense
SNP
0.517
2--
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
2-UBA52--PLCG2
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
3Gain-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G2p.P20H
Missense
SNP
0.280
2--
UBE2Q2P6.
Splice_Site
SNP
0.212
NDND-
UBE2QL1-
-
-
-
4Gain-
UBE2R2-
-
-
-
1Loss-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE2Zp.K105E
Missense
SNP
0.365
2--
UBE3Bp.D823N
Missense
SNP
0.467
2--
UBE4A-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBR1p.C1541G
Missense
SNP
0.553
2--
UBR3p.R1183*
Nonsense
SNP
0.417
2--
UBR5p.E2121Kfs*28
Frame_Shift_Del
DEL
0.158
3Gain-
UBXN2B-
-
-
-
3Gain-
UBXN8-
-
-
-
1Loss-
UCHL3p.R141H
Missense
SNP
0.782
3Gain-
UCMA-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UGGT1p.D1432G
Missense
SNP
0.480
2--
UGGT2-
-
-
-
3Gain-
UGT1A5p.L63P
p.V249L
Missense
Missense
SNP
SNP
0.247
0.126
2--
UGT1A6p.A470V
Missense
SNP
0.440
2--
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10p.S191F
Missense
SNP
0.518
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.K524R
Missense
SNP
0.398
1Loss-
UGT2B7p.V28M
Missense
SNP
0.463
1Loss-
UGT3A1-
-
-
-
4Gain-
UGT3A2-
-
-
-
4Gain-
UHRF1p.D379N
Missense
SNP
0.567
2--
UHRF2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UNC13Ap.Q360H
Missense
SNP
0.547
2--
UNC13B-
-
-
-
1Loss-
UNC13Cp.D275N
p.G420R
Missense
Missense
SNP
SNP
0.496
0.462
2--
UNC5Cp.E121K
Missense
SNP
0.490
2--
UNC5CLp.R38K
Missense
SNP
0.476
2--
UNC5Dp.P511S
p.P843L
Missense
Missense
SNP
SNP
1.000
0.982
1Loss-
UNKp.I621V
Missense
SNP
0.515
2--
UPB1p.N197Tfs*34
Frame_Shift_Del
DEL
0.143
2--
UPF1p.L219F
Missense
SNP
0.444
2--
UPF2-
-
-
-
3Gain-
UPF3A-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRC1-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
USH2Ap.L4479F
Missense
SNP
0.487
2--
USP12-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP29p.N171D
Missense
SNP
0.504
2--
USP36p.P710S
Missense
SNP
0.556
2--
USP39p.T432I
Missense
SNP
0.707
2--
USP4-
-
-
-
1Loss-
USP6p.P776H
Missense
SNP
0.502
2--
USP6NLp.R704P
Missense
SNP
0.301
3Gain-
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
3Gain-
UTP23-
-
-
-
3Gain-
UTRNp.A1050T
p.G2511R
Missense
Missense
SNP
SNP
0.479
0.498
2--
UVRAGp.S237Vfs*6
Frame_Shift_Del
DEL
0.544
2--
VARS2p.A187T
p.R638H
Missense
Missense
SNP
SNP
0.543
0.434
2--
VCANp.D3375G
Missense
SNP
0.403
2--
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VDAC3-
-
-
-
1Loss-
VEGFBp.T166A
Missense
SNP
0.473
2--
VEZTp.K199Nfs*20
Frame_Shift_Del
DEL
0.378
2--
VGLL1p.P107H
Missense
SNP
1.000
NDND-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIM-
-
-
-
3Gain-
VIPp.R138K
Missense
SNP
0.508
2--
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VN1R2p.S106L
Missense
SNP
0.449
2--
VPS11p.P136S
Missense
SNP
0.983
1Loss-
VPS13Ap.Y2885Mfs*20
Frame_Shift_Del
DEL
0.130
2--
VPS13B-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS36-
-
-
-
3Gain-
VPS37A-
-
-
-
1Loss-
VPS4Ap.K287N
Missense
SNP
0.163
2--
VPS4B-
-
-
-
1Loss-
VSIG10p.P339Lfs*7
Frame_Shift_Del
DEL
0.449
2--
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8p.G304S
Missense
SNP
0.370
2--
VWA5A-
-
-
-
1Loss-
VWA5B1p.A249D
Missense
SNP
0.476
2--
VWA8-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WARSp.Q255*
Nonsense
SNP
0.417
2--
WASF3p.P353S
Missense
SNP
0.684
3Gain-
WASHC5-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WBSCR17p.R66Afs*24
p.P258S
Frame_Shift_Ins
Missense
INS
SNP
0.329
0.525
NDND-
WDFY2-
-
-
-
3Gain-
WDFY3p.I1907V
Missense
SNP
0.055
2--
WDR20p.A267V
Missense
SNP
0.461
2--
WDR37-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR49p.G223R
Missense
SNP
0.441
2--
WDR6-
-
-
-
1Loss-
WDR60p.R607H
Missense
SNP
0.514
2--
WDR70p.S84F
Missense
SNP
0.793
4Gain-
WDR78p.P662S
Missense
SNP
0.464
2--
WDR82-
-
-
-
1Loss-
WDR87p.V1240A
Missense
SNP
0.455
2--
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WFDC3p.D185Y
Missense
SNP
0.463
2--
WIPF2p.H403Y
Missense
SNP
0.476
2--
WISP1-
-
-
-
3Gain-
WNK1p.S2590N
Missense
SNP
0.549
2--
WNK2p.G1103E
Missense
SNP
0.478
2--
WNT3p.P281L
Missense
SNP
0.429
2--
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRBp.P127S
Missense
SNP
0.990
2--
WRN-
-
-
-
1Loss-
WWC3p.T947Pfs*37
Frame_Shift_Del
DEL
0.947
NDND-
WWP1-
-
-
-
3Gain-
XCR1p.I256M
Missense
SNP
1.000
1Loss-
XDHp.G589N
Missense
MNP
0.463
2--
XIRP1-
-
-
-
1Loss-
XIRP2p.Q342*
p.I2150N
p.P2421L
Nonsense
Missense
Missense
SNP
SNP
SNP
0.539
0.482
0.477
2--
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPO4p.G423Afs*19
p.F68Y
Frame_Shift_Del
Missense
DEL
SNP
0.296
0.223
2--
XPO5p.K704T
Missense
SNP
0.652
2--
XPO7-
-
-
-
1Loss-
XRRA1p.S558F
Missense
SNP
0.440
2--
XXYLT1p.E283Rfs*10
Frame_Shift_Del
DEL
0.465
2--
XYLB-
-
-
-
1Loss-
XYLT2p.G529Afs*78
Frame_Shift_Del
DEL
0.463
2--
YEATS2p.L863*
p.P778S
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.509
2--
YTHDF3-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
Z84492.1-
-
-
-
1Loss-
ZAR1Lp.W34*
Nonsense
MNP
0.294
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB18p.T296I
Missense
SNP
0.519
2--
ZBTB20p.P692Lfs*43
p.K576Sfs*42
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.110
0.052
2--
ZBTB4p.V300M
Missense
SNP
0.532
2--
ZBTB40p.E1126K
Missense
SNP
0.514
2--
ZBTB43p.K358E
Missense
SNP
0.059
2--
ZBTB44-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
3Gain-
ZC3H12Bp.P192S
Missense
SNP
1.000
NDND-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H18p.R704Qfs*14
p.H126Y
Frame_Shift_Ins
Missense
INS
SNP
0.290
0.495
2--
ZC3H3-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24p.R194Afs*?
Frame_Shift_Del
DEL
0.450
2--
ZCCHC5p.E175K
Missense
SNP
1.000
NDND-
ZCCHC7-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2p.K1728Nfs*5
Frame_Shift_Del
DEL
0.448
2--
ZDHHC11B-
-
-
-
3Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZFAND1p.L223S
Missense
SNP
0.390
3Gain-
ZFAND2Bp.G138R
Missense
SNP
0.529
2--
ZFAT-
-
-
-
3Gain-
ZFHX4p.A1707T
Missense
SNP
0.060
3Gain-
ZFP41-
-
-
-
3Gain-
ZFP82p.E398K
Missense
SNP
0.476
2--
ZFPM2-
-
-
-
3Gain-
ZFR-
-
-
-
4Gain-
ZFR2p.A888V
Missense
SNP
0.519
2--
ZFYVE16p.K148Nfs*14
Frame_Shift_Del
DEL
0.435
2--
ZHX1p.K870E
Missense
SNP
0.258
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2p.V433M
Missense
SNP
0.593
3Gain-
ZHX3p.P935L
Missense
SNP
0.629
2--
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZKSCAN5p.H661N
Missense
SNP
0.481
2--
ZKSCAN7-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
3Gain-
ZMYND8p.D1094N
Missense
SNP
0.563
2--
ZNF106p.S1583F
p.H499Y
Missense
Missense
SNP
SNP
0.447
0.505
2--
ZNF112p.Y749H
Missense
SNP
0.529
2--
ZNF114p.D166N
Missense
SNP
0.486
2--
ZNF131-
-
-
-
4Gain-
ZNF16-
-
-
-
3Gain-
ZNF180p.I66L
Missense
SNP
0.565
2--
ZNF197-
-
-
-
1Loss-
ZNF20p.R271C
Missense
SNP
0.470
2--
ZNF202-
-
-
-
1Loss-
ZNF219p.P567L
Missense
SNP
0.573
2--
ZNF224p.N261D
Missense
SNP
0.526
2--
ZNF233p.R19M
Missense
SNP
0.507
2--
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF253p.F209V
Missense
SNP
0.532
2--
ZNF256p.S555F
Missense
SNP
0.450
2--
ZNF260p.H270Y
Missense
SNP
0.424
2--
ZNF263p.R454H
Missense
SNP
0.428
2--
ZNF273p.L473F
Missense
SNP
0.511
2--
ZNF274p.P283S
Missense
SNP
0.500
2--
ZNF317p.S515P
Missense
SNP
0.405
2--
ZNF335p.G211C
Missense
SNP
0.302
2--
ZNF33Bp.K775N
Missense
SNP
0.441
2--
ZNF34-
-
-
-
3Gain-
ZNF341p.P160Hfs*7
Frame_Shift_Del
DEL
0.589
2--
ZNF345p.S440G
Missense
SNP
0.530
2--
ZNF35-
-
-
-
1Loss-
ZNF384p.R395W
Missense
SNP
0.423
2--
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF432p.N204Tfs*45
Frame_Shift_Del
DEL
0.272
2--
ZNF445-
-
-
-
1Loss-
ZNF454p.E154G
Missense
SNP
0.414
2--
ZNF469p.R3417Gfs*56
Frame_Shift_Del
DEL
0.397
2--
ZNF488p.E315K
Missense
SNP
0.469
2--
ZNF490p.K99Nfs*18
Frame_Shift_Del
DEL
0.398
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF513p.R377Q
Missense
SNP
0.429
2--
ZNF517p.P488L
Missense
SNP
0.622
3Gain-
ZNF518Ap.N617K
Missense
SNP
0.548
2--
ZNF528p.F530L
Missense
SNP
0.592
2--
ZNF546p.R707*
Nonsense
SNP
0.450
2--
ZNF549p.P84H
Missense
SNP
0.402
2--
ZNF559p.H243Y
Missense
SNP
0.532
2--
ZNF572-
-
-
-
3Gain-
ZNF573p.E86K
Missense
SNP
0.477
2--
ZNF574p.R841C
Missense
SNP
0.419
2--
ZNF582p.P493L
Missense
SNP
0.472
2--
ZNF585Bp.A3V
Missense
SNP
0.475
2--
ZNF587Bp.P269S
Missense
SNP
0.529
2--
ZNF589-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF598p.P695L
Missense
SNP
0.537
2--
ZNF606p.S609*
Nonsense
SNP
0.073
2--
ZNF608p.G639E
Missense
SNP
0.539
2--
ZNF610p.G22E
Missense
SNP
0.263
2--
ZNF611p.V464A
Missense
SNP
0.547
2--
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
4Gain-
ZNF623-
-
-
-
3Gain-
ZNF629p.E203*
Nonsense
SNP
0.404
2--
ZNF658-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665p.H136Y
Missense
SNP
0.557
2--
ZNF667p.L542F
p.R121Q
Missense
Missense
SNP
SNP
0.500
0.474
2--
ZNF671p.H473Y
Missense
SNP
0.489
2--
ZNF683p.I382T
Missense
SNP
0.463
2--
ZNF695p.N155S
Missense
SNP
0.495
2--
ZNF696-
-
-
-
3Gain-
ZNF697p.R337C
Missense
SNP
0.442
2--
ZNF7-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF728p.G169E
Missense
SNP
0.502
2--
ZNF746p.R583P
Missense
SNP
0.433
2--
ZNF749p.S420R
Missense
SNP
0.401
2--
ZNF765p.R366Q
Missense
SNP
0.161
2--
ZNF766p.H429Y
Missense
SNP
0.433
2--
ZNF773p.F387Lfs*81
Frame_Shift_Del
DEL
0.305
2--
ZNF777p.A362V
Missense
SNP
0.428
2--
ZNF778p.R413*
Nonsense
SNP
0.460
2--
ZNF787p.R114H
Missense
SNP
0.285
2--
ZNF79p.L460F
Missense
SNP
1.000
2--
ZNF804Ap.D304Rfs*18
p.S454F
Frame_Shift_Ins
Missense
INS
SNP
0.289
0.477
2--
ZNF837p.R439H
Missense
SNP
0.490
2--
ZNF852-
-
-
-
1Loss-
ZNF853p.E136K
Missense
SNP
0.479
2--
ZNF860-
-
-
-
1Loss-
ZNF878p.L410F
Missense
SNP
0.438
2--
ZNF90p.P62S
p.S549A
Missense
Missense
SNP
SNP
0.502
0.525
2--
ZNF93p.R116K
Missense
SNP
0.490
2--
ZPBP2p.R246W
Missense
SNP
0.475
2--
ZPR1-
-
-
-
1Loss-
ZRANB3p.K322N
Missense
SNP
0.431
2--
ZSCAN18p.S405L
Missense
SNP
0.410
2--
ZSCAN31p.E49K
Missense
SNP
0.451
2--
ZSCAN32p.X123_splice
Splice_Site
SNP
0.475
2--
ZSWIM6p.E613Rfs*5
p.S1081F
Frame_Shift_Ins
Missense
INS
SNP
0.263
0.491
2--
ZW10-
-
-
-
1Loss-
ZXDAp.V757I
Missense
SNP
1.000
NDND-