WU-0025-T1-X1P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AADACL2p.D345Y
Missense
SNP
0.538
2--
AADACL4p.L75Yfs*5
Frame_Shift_Del
DEL
0.417
2--
AARD-
-
-
-
3Gain-
AATKp.P545H
Missense
SNP
0.491
2--
ABCA2p.I1858del
In_Frame_Del
DEL
0.404
2--
ABCC1p.K764del
In_Frame_Del
DEL
0.084
2--
ABCC3p.N1204Efs*50
Frame_Shift_Ins
INS
0.319
2--
ABCC4-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABRA-
-
-
-
3Gain-
AC001226.2-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC010615.4-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC110275.1-
-
-
-
3Gain-
AC131097.4p.I37Sfs*20
Frame_Shift_Del
DEL
0.406
NDND-
AC138696.1-
-
-
-
5Amp-
AC144573.1-
-
-
-
3Gain-
AC233992.2-
-
-
-
5Amp-
ACHEp.P199T
Missense
SNP
0.553
2--
ACOD1-
-
-
-
3Gain-
ACSM2Ap.R560*
Nonsense
SNP
0.468
2--
ACTBp.T351A
Missense
SNP
0.384
2--
ACVR2Ap.D96Tfs*54
Frame_Shift_Del
DEL
0.545
2--
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM20p.G167R
Missense
SNP
0.636
2--
ADAM32-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMTS18p.F695Lfs*7
Frame_Shift_Del
DEL
0.320
2--
ADAMTS5p.G820D
Missense
SNP
0.545
2--
ADAMTS9p.L289Ffs*41
Frame_Shift_Ins
INS
0.250
2--
ADCK5-
-
-
-
5Amp-
ADCY4p.R343C
Missense
SNP
0.513
2--
ADCY8-
-
-
-
3Gain-
ADD3p.W364Gfs*12
Frame_Shift_Del
DEL
0.448
2--
ADGRA2-
-
-
-
3Gain-
ADGRB1-
-
-
-
5Amp-
ADGRB3p.E656*
Nonsense
SNP
0.583
2--
ADGRF4p.K82Sfs*29
Frame_Shift_Del
DEL
0.390
2--
ADGRL1p.R261H
Missense
SNP
0.366
2--
ADHFE1-
-
-
-
3Gain-
ADPRHL1-
-
-
-
3Gain-
ADRA1Dp.S31Qfs*84
Frame_Shift_Ins
INS
0.381
2--
ADRB3p.G319Afs*4
Frame_Shift_Del
DEL
0.364
3Gain-
AFF2p.K702N
Missense
SNP
1.000
NDND-
AGO2-
-
-
-
5Amp-
AGTRAP-
-
-
-
3Gain-
AHNAKp.T3625A
Missense
SNP
0.360
2--
AIREp.P368Rfs*10
Frame_Shift_Del
DEL
0.413
2--
AKAP11-
-
-
-
3Gain-
AKNAD1p.D85Tfs*39
Frame_Shift_Del
DEL
0.983
2--
AL359736.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
3Gain-
ALG11-
-
-
-
3Gain-
ALG5-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALOX5AP-
-
-
-
3Gain-
ALPIp.L317P
Missense
SNP
0.488
2--
ALPK2p.P1319S
Missense
SNP
0.584
2--
ALX4p.P329H
Missense
SNP
0.522
2--
AMER2-
-
-
-
3Gain-
AMOTL1p.S427Afs*22
Frame_Shift_Del
DEL
0.470
2--
ANAPC5p.Q671H
Missense
SNP
0.516
2--
ANGPT1-
-
-
-
3Gain-
ANGPTL7-
-
-
-
3Gain-
ANK1p.P1101Rfs*5
Frame_Shift_Del
DEL
0.275
3Gain-
ANK2p.G1731Vfs*7
Frame_Shift_Del
DEL
0.444
2--
ANK3p.S22Vfs*2
Frame_Shift_Ins
INS
0.357
2--
ANKMY1p.A388T
Missense
SNP
0.488
2--
ANKRD10-
-
-
-
3Gain-
ANKRD11p.K1464Tfs*89
Frame_Shift_Del
DEL
0.430
2--
ANKRD46-
-
-
-
3Gain-
ANKRD6p.K516N
Missense
SNP
0.407
2--
ANKRD62p.K480Sfs*5
Frame_Shift_Del
DEL
0.594
2--
ANKRD9p.A79T
Missense
SNP
0.474
2--
ANO10p.D45Mfs*12
Frame_Shift_Del
DEL
0.532
2--
ANXA13-
-
-
-
3Gain-
AP2A2p.P604L
Missense
SNP
0.509
2--
AP2B1p.A446V
Missense
SNP
0.434
2--
AP3B1p.K923Nfs*4
Frame_Shift_Del
DEL
0.783
2--
AP3M2-
-
-
-
3Gain-
APODp.D181Y
Missense
SNP
0.473
2--
ARC-
-
-
-
5Amp-
ARFGEF1-
-
-
-
3Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP30p.R803M
Missense
SNP
0.473
2--
ARHGAP33p.R462H
Missense
SNP
0.504
2--
ARHGAP39-
-
-
-
5Amp-
ARHGEF11p.P860T
Missense
SNP
1.000
2--
ARHGEF16p.P55L
Missense
SNP
1.000
2--
ARHGEF19-
-
-
-
3Gain-
ARHGEF25p.R239Q
Missense
SNP
0.401
2--
ARHGEF6p.A604T
Missense
SNP
1.000
NDND-
ARHGEF7-
-
-
-
3Gain-
ARL11-
-
-
-
3Gain-
ARL14EPp.G52V
Missense
SNP
0.475
2--
ARMC1-
-
-
-
3Gain-
ARMC7p.A44D
Missense
SNP
0.476
2--
AS3MTp.E301G
Missense
SNP
0.429
2--
ASAP1p.L107*
Frame_Shift_Del
DEL
0.202
3Gain-
ASCL1p.R98H
Missense
SNP
0.556
2--
ASH2L-
-
-
-
3Gain-
ASIC1p.R317H
Missense
SNP
0.470
2--
ASPH-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATG2Ap.P554H
Missense
SNP
0.487
2--
ATG9Ap.Q640H
Missense
SNP
0.518
2--
ATMp.X1593_splice
Splice_Site
SNP
0.325
2--
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
1Loss-
ATP12A-
-
-
-
3Gain-
ATP2A1p.R822Pfs*39
Frame_Shift_Ins
INS
0.270
2--
ATP4Bp.L245Wfs*26
Frame_Shift_Del
DEL
0.318
3Gain-
ATP5SLp.E229A
Missense
SNP
0.537
NDND-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1B1p.I386Sfs*10
Frame_Shift_Del
DEL
0.432
2--
ATP6V1C1-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
3Gain-
ATP8A2-
-
-
-
3Gain-
AURKCp.V227A
Missense
SNP
0.463
2--
AUTS2p.L1158R
Missense
SNP
0.514
2--
AXIN2p.Q784R
Missense
SNP
0.314
2--
AZIN1-
-
-
-
3Gain-
B2Mp.L7*
p.T93Hfs*2
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.505
0.335
2--
B3GLCT-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BAG4-
-
-
-
3Gain-
BAIAP2L1p.A464T
Missense
SNP
0.603
2--
BAXp.E41Rfs*19
Frame_Shift_Del
DEL
0.945
2--
BAZ1Bp.G427Dfs*2
Frame_Shift_Del
DEL
0.522
2--
BBOX1p.Y177C
Missense
SNP
0.644
2--
BCAP29p.W114Gfs*2
Frame_Shift_Del
DEL
0.278
2--
BCAR3p.R170*
Nonsense
SNP
0.412
2--
BHLHE22-
-
-
-
3Gain-
BIRC8-
-
-
-
3Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BMP3p.R40S
Missense
SNP
0.497
2--
BMP6p.E112Q
Missense
SNP
0.521
2--
BOLLp.Q200P
Missense
SNP
0.526
2--
BOP1-
-
-
-
5Amp-
BORA-
-
-
-
3Gain-
BORCS7p.L80I
Missense
SNP
0.361
2--
BRCA2-
-
-
-
3Gain-
BRD8p.A937T
Missense
SNP
0.460
2--
BRF2-
-
-
-
3Gain-
BRPF3p.Q10P
Missense
SNP
0.544
2--
BRSK2-
-
-
-
3Gain-
BSNp.T231S
Missense
SNP
0.546
2--
BTAF1p.V1122A
Missense
SNP
0.422
2--
BTBD17p.R335C
Missense
SNP
0.515
2--
BUB1p.Y1003C
Missense
SNP
0.398
2--
C12orf42p.R337Afs*19
Frame_Shift_Del
DEL
0.424
2--
C17orf51p.L147Cfs*29
Frame_Shift_Del
DEL
0.562
2--
C19orf45p.D256N
Missense
SNP
0.351
NDND-
C1orf167-
-
-
-
3Gain-
C1QTNF5p.A195Gfs*8
Frame_Shift_Ins
INS
0.312
2--
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C3p.G335C
Missense
SNP
0.492
2--
C4B-
-
-
-
3Gain-
C6orf89p.K52Rfs*15
Frame_Shift_Del
DEL
0.542
2--
C8orf33-
-
-
-
5Amp-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
5Amp-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9-
-
-
-
1Loss-
C9orf114p.K34Nfs*7
p.T241I
p.A54T
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.562
0.365
0.333
NDND-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CAB39L-
-
-
-
3Gain-
CABYRp.S345Vfs*20
Frame_Shift_Del
DEL
0.413
2--
CACNA1Bp.N60Tfs*41
Frame_Shift_Del
DEL
0.319
2--
CACNA1Sp.M1638T
Missense
SNP
1.000
2--
CALB1-
-
-
-
3Gain-
CAMK2Dp.L305M
Missense
SNP
0.476
2--
CAMTA2p.R733Q
Missense
SNP
0.441
2--
CARS2-
-
-
-
3Gain-
CASC1p.W616*
Nonsense
SNP
0.360
2--
CASP8p.Q279*
Nonsense
SNP
0.556
2--
CASP8AP2p.R491Kfs*11
Frame_Shift_Ins
INS
0.333
2--
CCBE1p.P246S
Missense
SNP
0.450
2--
CCDC122-
-
-
-
3Gain-
CCDC126p.A80S
Missense
SNP
0.579
2--
CCDC15p.K194Rfs*29
Frame_Shift_Del
DEL
0.406
2--
CCDC166p.R329C
Missense
SNP
0.245
5Amp-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC171p.N692Tfs*5
Frame_Shift_Del
DEL
0.688
2--
CCDC39-
-
-
-
1Loss-
CCDC69p.S230G
Missense
SNP
0.408
2--
CCDC70-
-
-
-
3Gain-
CCDC73p.N638Ifs*18
Frame_Shift_Del
DEL
0.519
2--
CCDC8p.K71Qfs*77
Frame_Shift_Ins
INS
0.222
2--
CCL11p.D75N
Missense
SNP
0.458
2--
CCNA1-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CD200R1p.K262Nfs*17
Frame_Shift_Del
DEL
0.382
2--
CDADC1-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC25Cp.K244Sfs*15
Frame_Shift_Del
DEL
0.600
2--
CDC37L1p.F136Lfs*37
Frame_Shift_Del
DEL
0.391
2--
CDC42BPGp.R1217C
Missense
SNP
0.484
2--
CDH1p.R224C
Missense
SNP
0.500
2--
CDH10p.F526Sfs*3
Frame_Shift_Del
DEL
0.424
2--
CDH16p.K563Sfs*22
Frame_Shift_Del
DEL
0.341
2--
CDH17-
-
-
-
3Gain-
CDK12p.R331W
Missense
SNP
0.573
2--
CDK8-
-
-
-
3Gain-
CDKN1Bp.D127*
Frame_Shift_Ins
INS
0.359
2--
CDT1p.P373S
Missense
SNP
0.482
2--
CDX2-
-
-
-
3Gain-
CEACAM18p.G30D
Missense
SNP
0.442
2--
CEBPD-
-
-
-
3Gain-
CELp.V596Rfs*6
Frame_Shift_Ins
INS
0.223
2--
CELSR1p.P160L
Missense
SNP
0.428
2--
CENPBp.D190V
Missense
SNP
0.438
2--
CENPJ-
-
-
-
3Gain-
CENPUp.S96Ffs*18
Frame_Shift_Del
DEL
0.567
2--
CEP170Bp.E1143D
Missense
SNP
0.513
2--
CERKp.K477Rfs*74
Frame_Shift_Del
DEL
0.074
2--
CES2p.T20S
Missense
SNP
0.539
2--
CGB1p.R4G
Missense
SNP
0.154
2--
CHADLp.X688_splice
Splice_Site
SNP
0.536
2--
CHAMP1-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD2p.P1779L
Missense
SNP
0.423
2--
CHD5p.K577N
Missense
SNP
0.055
2--
CHD7-
-
-
-
3Gain-
CHD9p.R2431Gfs*8
Frame_Shift_Del
DEL
0.333
2--
CHGAp.E228Gfs*10
Frame_Shift_Del
DEL
0.510
2--
CHMP4C-
-
-
-
3Gain-
CHMP6p.E176K
Missense
SNP
0.438
2--
CHPF2p.S648Pfs*13
Frame_Shift_Del
DEL
0.536
2--
CHRAC1-
-
-
-
3Gain-
CHRNA6-
-
-
-
3Gain-
CHRNA7p.S394R
Missense
SNP
0.230
2--
CHRNB3-
-
-
-
3Gain-
CHST5p.R72C
Missense
SNP
0.392
2--
CIDEBp.M162L
Missense
SNP
0.423
2--
CIZ1p.E784A
Missense
SNP
0.541
2--
CKAP2p.K606Rfs*14
Frame_Shift_Del
DEL
0.315
3Gain-
CLASP1-
-
-
-
3Gain-
CLASP2p.M744Wfs*33
Frame_Shift_Del
DEL
0.683
2--
CLCN6-
-
-
-
3Gain-
CLCNKAp.Y99C
Missense
SNP
0.433
2--
CLCNKB-
-
-
-
3Gain-
CLDN10-
-
-
-
3Gain-
CLK1p.K173Rfs*11
Frame_Shift_Del
DEL
0.612
2--
CLN5-
-
-
-
3Gain-
CLOCKp.L123*
Frame_Shift_Del
DEL
0.370
2--
CLPTM1p.F307del
In_Frame_Del
DEL
0.526
2--
CLRN2p.V156M
Missense
SNP
0.537
2--
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNGB3-
-
-
-
3Gain-
CNMD-
-
-
-
3Gain-
CNOT3p.S325F
Missense
SNP
0.504
2--
CNTD2p.L257P
Missense
SNP
0.479
2--
CNTNAP1p.P1359T
Missense
SNP
0.512
2--
CNTNAP5p.L58R
Missense
SNP
0.523
2--
COBLL1p.L907Cfs*12
Frame_Shift_Del
DEL
0.957
2--
COG3-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COL14A1-
-
-
-
3Gain-
COL15A1p.R1160K
Missense
SNP
0.476
2--
COL1A2p.R777C
Missense
SNP
0.485
2--
COL25A1-
-
-
-
1Loss-
COL27A1-
-
-
-
1Loss-
COL28A1p.C981Vfs*43
Frame_Shift_Del
DEL
0.500
2--
COL4A1-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL7A1p.G2749Rfs*41
p.G100W
Frame_Shift_Ins
Missense
INS
SNP
0.312
0.414
2--
COL8A2p.R434C
Missense
SNP
0.439
2--
COL9A1-
-
-
-
1Loss-
COLEC10-
-
-
-
3Gain-
COLGALT1p.L428Cfs*21
p.R439C
Frame_Shift_Del
Missense
DEL
SNP
0.648
0.638
2--
COMMD5-
-
-
-
5Amp-
COMMD6-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA1p.G225V
Missense
SNP
0.434
2--
CPA6-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPDp.V238A
Missense
SNP
0.615
2--
CPNE3-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
5Amp-
CRACR2Bp.R372S
Missense
SNP
0.573
2--
CRATp.T465I
Missense
SNP
0.502
2--
CRB1p.E260G
Missense
SNP
0.507
2--
CREBZFp.A10T
Missense
SNP
0.523
2--
CRH-
-
-
-
3Gain-
CRIP3p.Q106Kfs*9
Frame_Shift_Del
DEL
0.418
2--
CRISPLD1-
-
-
-
3Gain-
CRYBG3p.F2513V
Missense
SNP
0.857
2--
CRYL1-
-
-
-
3Gain-
CSMD3p.R1470L
Missense
SNP
0.164
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
3Gain-
CSNK1Dp.A377G
Missense
SNP
0.571
2--
CSPP1-
-
-
-
3Gain-
CTC-260F20.3p.G15Afs*24
Frame_Shift_Del
DEL
0.409
NDND-
CTD-3088G3.8p.G1069Afs*24
Frame_Shift_Del
DEL
0.480
NDND-
CTHp.N362Y
Missense
SNP
1.000
2--
CTHRC1-
-
-
-
3Gain-
CUL4A-
-
-
-
3Gain-
CUX2p.Q585*
Nonsense
SNP
0.435
2--
CX3CL1p.G281D
Missense
SNP
0.462
2--
CXCL17p.R33M
Missense
SNP
0.484
2--
CYC1-
-
-
-
5Amp-
CYHR1-
-
-
-
5Amp-
CYP11B1-
-
-
-
5Amp-
CYP11B2-
-
-
-
5Amp-
CYP3A4p.M9I
Missense
SNP
0.239
2--
CYP4A11p.S9Afs*23
Frame_Shift_Del
DEL
0.500
2--
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYSLTR2-
-
-
-
3Gain-
CYTH1p.R388W
Missense
SNP
0.505
2--
DAAM2p.G526Wfs*14
p.W398L
Frame_Shift_Ins
Missense
INS
SNP
0.348
0.457
2--
DAB2IPp.G810V
p.Q916R
Missense
Missense
SNP
SNP
0.557
0.437
2--
DACH1-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DAXXp.A313T
Missense
SNP
0.528
2--
DCAF12L1p.S23L
Missense
SNP
0.164
NDND-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCLK1-
-
-
-
3Gain-
DCLK3p.D173N
Missense
SNP
0.553
2--
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DDHD2-
-
-
-
3Gain-
DDX3Yp.D127G
Missense
SNP
1.000
NDND-
DEAF1p.A550V
Missense
SNP
0.409
2--
DECR1-
-
-
-
3Gain-
DENND3-
-
-
-
5Amp-
DEPDC5p.G647W
p.D978N
Missense
Missense
SNP
SNP
0.512
0.539
2--
DEPTOR-
-
-
-
3Gain-
DERAp.V157del
In_Frame_Del
DEL
0.310
2--
DERL1-
-
-
-
3Gain-
DERL3p.P220S
Missense
SNP
0.463
2--
DGAT1p.R274Q
Missense
SNP
0.218
5Amp-
DGKH-
-
-
-
3Gain-
DHRS12-
-
-
-
3Gain-
DHX38p.R362H
Missense
SNP
0.399
2--
DIAPH3-
-
-
-
3Gain-
DIS3-
-
-
-
3Gain-
DISP3-
-
-
-
3Gain-
DKK4-
-
-
-
3Gain-
DLEU7-
-
-
-
3Gain-
DLG2p.T362A
Missense
SNP
0.581
2--
DMRT1p.S163G
Missense
SNP
0.401
2--
DNAH17p.N3284Tfs*10
Frame_Shift_Del
DEL
0.618
2--
DNAH2p.E2500A
Missense
SNP
0.483
2--
DNAH8-
-
-
-
1Loss-
DNAJC12p.P161L
Missense
SNP
0.425
2--
DNAJC15-
-
-
-
3Gain-
DNAJC19-
-
-
-
1Loss-
DNAJC3-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNM2p.I679N
Missense
SNP
0.542
2--
DOCK9p.F1334Lfs*19
Frame_Shift_Del
DEL
0.412
3Gain-
DPP10p.P12Rfs*34
Frame_Shift_Del
DEL
0.429
2--
DPPA2p.P30S
Missense
SNP
0.547
2--
DPY19L4-
-
-
-
3Gain-
DPYSp.V170M
Missense
SNP
0.211
3Gain-
DRAXIN-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSTp.L1539Wfs*8
Frame_Shift_Del
DEL
0.471
2--
DTX2p.H232Tfs*122
Frame_Shift_Ins
INS
0.120
2--
DTX3p.C170Wfs*28
Frame_Shift_Del
DEL
0.521
2--
DUSP8-
-
-
-
3Gain-
DVL1p.G136C
Missense
SNP
0.544
2--
DYNC1I1p.A578Gfs*29
Frame_Shift_Ins
INS
0.308
2--
DYNC1I2p.R57Gfs*13
Frame_Shift_Del
DEL
0.690
2--
DZIP1-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
E2F7p.R334H
Missense
SNP
0.465
2--
EBAG9-
-
-
-
3Gain-
EBPL-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
EDNRB-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1D-
-
-
-
5Amp-
EFCAB1-
-
-
-
3Gain-
EFCAB5p.G885D
Missense
SNP
0.412
2--
EFEMP1p.F6Sfs*2
Frame_Shift_Del
DEL
0.457
2--
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3Ip.R230C
Missense
SNP
0.469
2--
EIF4EBP1-
-
-
-
3Gain-
EIF5Ap.P139T
Missense
SNP
0.452
2--
EIF5A2-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELNp.X55_splice
Splice_Site
SNP
0.333
2--
ELOC-
-
-
-
3Gain-
ELOVL2p.R111W
Missense
SNP
0.450
2--
EMC2-
-
-
-
3Gain-
EML5p.D91E
Missense
SNP
0.513
2--
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EPB41L3p.P593H
Missense
SNP
0.419
2--
EPHA2-
-
-
-
3Gain-
EPHA4p.D708G
Missense
SNP
0.382
2--
EPHA5p.V462A
Missense
SNP
0.500
2--
EPPK1-
-
-
-
5Amp-
EPSTI1-
-
-
-
3Gain-
ERBB3p.G582E
Missense
SNP
0.435
2--
ERCC5-
-
-
-
3Gain-
ERGp.D7N
Missense
SNP
0.732
2--
ERICH5-
-
-
-
3Gain-
ERICH6B-
-
-
-
3Gain-
ERLIN2-
-
-
-
3Gain-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESPNLp.R971Pfs*10
Frame_Shift_Ins
INS
0.308
2--
ESRP1-
-
-
-
3Gain-
ETFBp.Q110*
Nonsense
SNP
0.502
2--
EXOSC4-
-
-
-
5Amp-
EXOSC8-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
F10-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAM104Ap.Q90Pfs*6
Frame_Shift_Ins
INS
0.279
2--
FAM107Ap.K115E
Missense
SNP
0.513
2--
FAM110B-
-
-
-
3Gain-
FAM124A-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM135Bp.G195S
Missense
SNP
0.431
3Gain-
FAM13Ap.I776N
Missense
SNP
0.491
2--
FAM155A-
-
-
-
3Gain-
FAM159Ap.A30T
Missense
SNP
0.543
NDND-
FAM172A-
-
-
-
3Gain-
FAM208Bp.E1382D
Missense
SNP
0.394
2--
FAM216B-
-
-
-
3Gain-
FAM21Cp.R474C
Missense
SNP
0.268
NDND-
FAM43Ap.G322V
Missense
SNP
0.582
2--
FAM43Bp.A198V
Missense
SNP
1.000
2--
FAM47Bp.C188F
Missense
SNP
1.000
NDND-
FAM49B-
-
-
-
3Gain-
FAM71Bp.D163N
Missense
SNP
0.479
2--
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
5Amp-
FAM84B-
-
-
-
3Gain-
FAM8A1p.R395*
p.I400T
Nonsense
Missense
SNP
SNP
0.205
0.167
2--
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FARP1p.Q165R
Missense
SNP
0.305
3Gain-
FAT2p.R4255Q
Missense
SNP
0.486
2--
FAT3p.T4115M
Missense
SNP
0.533
2--
FBN1p.E487Gfs*4
Frame_Shift_Ins
INS
0.321
2--
FBXL3-
-
-
-
3Gain-
FBXL6-
-
-
-
5Amp-
FBXL8p.L106M
Missense
SNP
0.519
2--
FBXO15p.S123Hfs*12
Frame_Shift_Del
DEL
0.408
2--
FBXO2-
-
-
-
3Gain-
FBXO32p.A141T
Missense
SNP
0.425
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO6-
-
-
-
3Gain-
FCRL5p.R60W
Missense
SNP
0.508
2--
FDCSP-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERMT3p.R542C
Missense
SNP
0.579
2--
FEZF2p.A118Pfs*129
Frame_Shift_Del
DEL
0.383
2--
FGD6p.H1287Y
Missense
SNP
0.440
2--
FGF14-
-
-
-
3Gain-
FGF17p.R160Afs*77
Frame_Shift_Del
DEL
0.484
2--
FGF22p.G148Afs*26
Frame_Shift_Del
DEL
0.381
2--
FGF9-
-
-
-
3Gain-
FGFR1-
-
-
-
3Gain-
FHOD1p.R312H
Missense
SNP
0.586
2--
FKTNp.F369Sfs*37
Frame_Shift_Del
DEL
0.565
2--
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FNDC3A-
-
-
-
3Gain-
FNDC3B-
-
-
-
3Gain-
FNTA-
-
-
-
3Gain-
FOSp.K265Efs*6
Frame_Shift_Ins
INS
0.277
2--
FOXH1-
-
-
-
5Amp-
FOXO1-
-
-
-
3Gain-
FREM2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSIP2p.L6802Cfs*3
Frame_Shift_Del
DEL
0.500
2--
FSTp.T251I
Missense
SNP
0.511
2--
FXR1-
-
-
-
1Loss-
FYB1-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
GAGE2Ap.M22V
Missense
SNP
0.075
NDND-
GAL3ST3p.A374G
Missense
SNP
0.571
2--
GALPp.A39T
Missense
SNP
0.415
2--
GAS6p.R246H
Missense
SNP
0.307
3Gain-
GATBp.A254T
Missense
SNP
0.442
2--
GCSAML-
-
-
-
0Del-
GCSAML-AS1-
-
-
-
0Del-
GDAP1-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GFAPp.R88C
Missense
SNP
0.102
2--
GFYp.H242Pfs*42
Frame_Shift_Ins
INS
0.257
2--
GGACT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GJA3-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GLI2p.D1517Y
Missense
SNP
0.368
3Gain-
GLI3p.P1033Rfs*46
Frame_Shift_Del
DEL
0.498
2--
GLI4-
-
-
-
5Amp-
GLS2p.V221Efs*15
Frame_Shift_Del
DEL
0.389
2--
GLYR1p.R381Afs*15
Frame_Shift_Ins
INS
0.271
2--
GMIPp.R228W
Missense
SNP
0.580
2--
GML-
-
-
-
5Amp-
GOLGA2p.E818del
In_Frame_Del
DEL
0.369
2--
GOLGA7-
-
-
-
3Gain-
GOT1L1-
-
-
-
3Gain-
GPAA1-
-
-
-
5Amp-
GPALPP1-
-
-
-
3Gain-
GPAT4-
-
-
-
3Gain-
GPC1p.L498R
Missense
SNP
0.492
2--
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPIHBP1-
-
-
-
5Amp-
GPR12-
-
-
-
3Gain-
GPR149p.I582*
p.V306I
Frame_Shift_Del
Missense
DEL
SNP
0.465
0.283
2--
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
5Amp-
GPR25p.A82V
Missense
SNP
1.000
2--
GPR26p.R115W
Missense
SNP
0.420
2--
GPR75p.C189Sfs*84
Frame_Shift_Del
DEL
0.480
2--
GPT-
-
-
-
5Amp-
GRHL2-
-
-
-
3Gain-
GRIN2Dp.A1021Pfs*497
Frame_Shift_Del
DEL
0.466
2--
GRINA-
-
-
-
5Amp-
GRK1-
-
-
-
3Gain-
GRTP1-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
5Amp-
GSX1-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTF3C2p.G395Dfs*29
Frame_Shift_Del
DEL
0.508
2--
GTF3C5p.A3V
Missense
SNP
0.530
2--
GTPBP2p.A30Pfs*43
Frame_Shift_Del
DEL
0.433
2--
GUCA1Bp.V146A
Missense
SNP
0.453
2--
GUCY2Dp.R588Q
Missense
SNP
0.358
2--
H3F3Cp.R18Afs*19
Frame_Shift_Del
DEL
0.543
2--
HAS2-
-
-
-
3Gain-
HDAC9p.A572V
Missense
SNP
0.434
2--
HECTD1p.R2515C
Missense
SNP
0.398
2--
HEMGNp.P243H
Missense
SNP
0.452
2--
HERC1p.Q2683R
Missense
SNP
0.339
2--
HERC2p.T4213A
Missense
SNP
0.564
2--
HERPUD1p.K78Nfs*11
Frame_Shift_Del
DEL
0.278
2--
HERPUD2p.V266A
Missense
SNP
0.522
2--
HEY1-
-
-
-
3Gain-
HGH1-
-
-
-
5Amp-
HGSNAT-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HLA-DRAp.X28_splice
Splice_Site
SNP
0.426
2--
HMCN1p.K2494Tfs*8
Frame_Shift_Del
DEL
0.545
2--
HMGB1-
-
-
-
3Gain-
HNF1Ap.P291Qfs*51
Frame_Shift_Del
DEL
0.440
2--
HNF4G-
-
-
-
3Gain-
HNRNPA1L2-
-
-
-
3Gain-
HOOK3-
-
-
-
3Gain-
HOXA13p.A202T
Missense
SNP
0.500
2--
HOXB7p.M65Afs*99
Frame_Shift_Ins
INS
0.271
2--
HS6ST3-
-
-
-
3Gain-
HSF1-
-
-
-
5Amp-
HSPB8p.T74Hfs*53
Frame_Shift_Ins
INS
0.322
2--
HSPH1-
-
-
-
3Gain-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HTRA4-
-
-
-
3Gain-
HYAL1p.L300Pfs*3
Frame_Shift_Ins
INS
0.333
2--
HYOU1p.E349*
p.T96M
Frame_Shift_Ins
Missense
INS
SNP
0.284
0.475
2--
ICAM5p.G20Afs*34
Frame_Shift_Del
DEL
0.491
2--
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGF2BP1p.S381N
Missense
SNP
0.574
2--
IKp.E94Afs*21
Frame_Shift_Del
DEL
0.472
2--
IKBKB-
-
-
-
3Gain-
IL17D-
-
-
-
3Gain-
IL1R2p.T275M
Missense
SNP
0.371
2--
IL7-
-
-
-
3Gain-
ILF3p.R657C
Missense
SNP
0.476
2--
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPG1p.M51Cfs*7
Frame_Shift_Del
DEL
0.262
2--
INCENPp.Q241H
Missense
SNP
0.527
2--
ING1-
-
-
-
3Gain-
INHBB-
-
-
-
3Gain-
INPP5Fp.W211Gfs*5
p.N301Mfs*13
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.633
0.375
2--
INPP5Jp.P693Sfs*56
Frame_Shift_Ins
INS
0.281
2--
INTS6-
-
-
-
3Gain-
INTS8p.K985Sfs*44
Frame_Shift_Del
DEL
0.320
3Gain-
IPO5-
-
-
-
3Gain-
IQANK1-
-
-
-
5Amp-
IRF2BPLp.V482M
Missense
SNP
0.396
2--
IRS1p.R790C
Missense
SNP
0.461
2--
IRS2-
-
-
-
3Gain-
IRX5p.R269Afs*98
Frame_Shift_Del
DEL
0.523
2--
ITGA3p.P886Hfs*17
Frame_Shift_Del
DEL
0.470
2--
ITGA6p.F227Lfs*3
Frame_Shift_Del
DEL
0.517
2--
ITGB3p.M168V
Missense
SNP
0.558
2--
ITGB5p.E470V
Missense
SNP
0.467
2--
ITGBL1-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
JAKMIP2p.R596Tfs*6
Frame_Shift_Del
DEL
0.229
2--
JPH1-
-
-
-
3Gain-
JPH3p.V553M
Missense
SNP
0.394
2--
JRK-
-
-
-
5Amp-
KANK3p.R741H
Missense
SNP
0.489
2--
KANSL1Lp.N311Mfs*63
p.C365Y
Frame_Shift_Del
Missense
DEL
SNP
0.434
0.480
2--
KAT6A-
-
-
-
3Gain-
KATNAL1-
-
-
-
3Gain-
KBTBD13p.D234N
Missense
SNP
0.547
2--
KBTBD6p.R443Afs*8
Frame_Shift_Ins
INS
0.373
3Gain-
KBTBD7-
-
-
-
3Gain-
KCNA4p.F221Lfs*21
Frame_Shift_Del
DEL
0.591
2--
KCNA6p.V458A
Missense
SNP
0.522
2--
KCNB2-
-
-
-
3Gain-
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.341
2--
KCNK9-
-
-
-
3Gain-
KCNMA1p.K769Sfs*17
p.A138V
Frame_Shift_Del
Missense
DEL
SNP
0.469
0.510
2--
KCNN2p.L357P
Missense
SNP
0.409
2--
KCNQ3-
-
-
-
3Gain-
KCNRG-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCTD12-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0408p.G623Dfs*4
Frame_Shift_Del
DEL
0.435
2--
KIAA0825p.F767Lfs*27
Frame_Shift_Del
DEL
0.310
3Gain-
KIAA1211Lp.P522Rfs*182
Frame_Shift_Del
DEL
0.435
2--
KIAA2013-
-
-
-
3Gain-
KIF12-
-
-
-
1Loss-
KIF2Ap.R23*
Nonsense
SNP
0.619
2--
KIFC2-
-
-
-
5Amp-
KIR3DL3p.E17V
Missense
SNP
0.494
2--
KL-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
3Gain-
KLF14p.R223C
Missense
SNP
0.564
2--
KLF5-
-
-
-
3Gain-
KLHL1p.S43N
Missense
SNP
0.299
3Gain-
KLHL14p.V232Wfs*30
Frame_Shift_Del
DEL
0.396
2--
KLHL18p.R134G
Missense
SNP
0.482
2--
KLHL38-
-
-
-
3Gain-
KLK7p.P134S
Missense
SNP
0.434
2--
KMT2Ap.S1107F
Missense
SNP
0.481
2--
KMT2Ep.P1716Hfs*156
Frame_Shift_Del
DEL
0.464
2--
KPNA3-
-
-
-
3Gain-
KRT18p.K81del
In_Frame_Del
DEL
0.405
2--
KRT9p.K184E
Missense
SNP
0.448
2--
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
3Gain-
KRTAP5-2-
-
-
-
3Gain-
KRTAP5-3-
-
-
-
3Gain-
KRTAP5-4-
-
-
-
3Gain-
KRTAP5-5-
-
-
-
3Gain-
KRTAP5-6-
-
-
-
3Gain-
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAMA1p.M680Nfs*17
Frame_Shift_Ins
INS
0.323
2--
LAMA3p.K3079R
Missense
SNP
0.606
2--
LAMA5p.A2433V
Missense
SNP
0.509
2--
LAMP1-
-
-
-
3Gain-
LAPTM4Bp.W268R
Missense
SNP
0.273
3Gain-
LATS2-
-
-
-
3Gain-
LCP1-
-
-
-
3Gain-
LDLRAP1p.S202Lfs*19
Frame_Shift_Ins
INS
0.294
2--
LEFTY2p.R205M
Missense
SNP
1.000
2--
LEO1p.R93H
Missense
SNP
0.543
2--
LETM2-
-
-
-
3Gain-
LGR6p.R21K
Missense
SNP
0.529
2--
LHFPL6-
-
-
-
3Gain-
LIG4-
-
-
-
3Gain-
LMF2p.V184M
Missense
SNP
0.475
2--
LMO7-
-
-
-
3Gain-
LNX2-
-
-
-
3Gain-
LOXL2p.R35C
Missense
SNP
0.500
2--
LPAR6-
-
-
-
3Gain-
LRBAp.N1675Tfs*4
Frame_Shift_Del
DEL
0.506
2--
LRCH1-
-
-
-
3Gain-
LRIG3p.T1099N
Missense
SNP
0.441
2--
LRP1p.T778Lfs*2
p.G2619R
Frame_Shift_Del
Missense
DEL
SNP
0.485
0.530
3Gain-
LRP12-
-
-
-
3Gain-
LRP1Bp.C4018Y
Missense
SNP
0.464
2--
LRP8p.G219S
Missense
SNP
0.460
2--
LRRC14-
-
-
-
5Amp-
LRRC24-
-
-
-
5Amp-
LRRC37A3p.T1626M
Missense
SNP
0.485
2--
LRRC3Bp.L186R
Missense
SNP
0.494
2--
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRTM4p.L111R
Missense
SNP
0.446
2--
LSM1-
-
-
-
3Gain-
LTBP3p.E825D
Missense
SNP
0.498
2--
LY6D-
-
-
-
5Amp-
LY6E-
-
-
-
5Amp-
LY6H-
-
-
-
5Amp-
LY6K-
-
-
-
5Amp-
LY6L-
-
-
-
5Amp-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
5Amp-
LYNX1-SLURP2-
-
-
-
5Amp-
LYPD2-
-
-
-
5Amp-
LYPLA1-
-
-
-
3Gain-
MAB21L1-
-
-
-
3Gain-
MAD2L2-
-
-
-
3Gain-
MAF1-
-
-
-
5Amp-
MAFA-
-
-
-
5Amp-
MAL2-
-
-
-
3Gain-
MAN2B2p.R501C
Missense
SNP
0.434
2--
MAP1Sp.K851Rfs*159
p.R194W
Frame_Shift_Del
Missense
DEL
SNP
0.489
0.491
2--
MAP3K11p.T680Rfs*267
Frame_Shift_Del
DEL
0.430
2--
MAP3K9p.A1065V
Missense
SNP
0.483
2--
MAP4K2p.L98M
Missense
SNP
0.466
2--
MAPK15-
-
-
-
5Amp-
MARC1p.V72Cfs*3
Frame_Shift_Del
DEL
0.517
2--
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.266
2--
MATKp.P37Lfs*125
Frame_Shift_Del
DEL
0.240
2--
MATN2-
-
-
-
3Gain-
MATN4p.A555Rfs*5
Frame_Shift_Del
DEL
0.426
2--
MB21D2p.N216Mfs*11
Frame_Shift_Del
DEL
0.434
2--
MBNL2p.T92Lfs*27
Frame_Shift_Del
DEL
0.254
3Gain-
MCCp.S24G
Missense
SNP
0.315
2--
MCF2L-
-
-
-
3Gain-
MCM2p.A551Rfs*42
Frame_Shift_Del
DEL
0.462
2--
MCM4-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCTP2p.E180Kfs*6
Frame_Shift_Del
DEL
0.516
2--
MED12p.Q2076dup
In_Frame_Ins
INS
0.395
NDND-
MED14p.T1354M
Missense
SNP
1.000
NDND-
MED30-
-
-
-
3Gain-
MED4-
-
-
-
3Gain-
MED9p.Q117L
Missense
SNP
0.476
2--
MEDAG-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEGF8p.G2143Afs*20
Frame_Shift_Del
DEL
0.387
2--
METTL21C-
-
-
-
3Gain-
MFAP4p.G195V
Missense
SNP
0.450
2--
MFN2-
-
-
-
3Gain-
MFSD3-
-
-
-
5Amp-
MFSD7p.L320P
p.A163T
Missense
Missense
SNP
SNP
0.453
0.455
NDND-
MICU2-
-
-
-
3Gain-
MICU3p.A353Lfs*20
Frame_Shift_Del
DEL
0.652
2--
MIER3p.R348Dfs*15
Frame_Shift_Del
DEL
0.509
2--
MIIP-
-
-
-
3Gain-
MIPEP-
-
-
-
3Gain-
MLNR-
-
-
-
3Gain-
MMEL1p.L29Cfs*8
Frame_Shift_Del
DEL
0.457
2--
MMP16p.R538Sfs*2
Frame_Shift_Del
DEL
0.185
3Gain-
MOB2-
-
-
-
3Gain-
MOCOSp.R823*
Nonsense
SNP
0.391
2--
MORC1p.S130Lfs*14
Frame_Shift_Del
DEL
0.280
2--
MORN3p.G73S
Missense
SNP
0.496
2--
MOS-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
3Gain-
MPOp.X402_splice
Splice_Site
SNP
0.523
2--
MPP6p.K307Efs*14
Frame_Shift_Ins
INS
0.294
2--
MPPED2p.G9C
Missense
SNP
0.449
2--
MROH1-
-
-
-
5Amp-
MROH5-
-
-
-
5Amp-
MROH6-
-
-
-
5Amp-
MROH8p.E409K
Missense
SNP
0.398
2--
MROH9p.A860D
Missense
SNP
1.000
2--
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSH6p.R248Tfs*8
Frame_Shift_Ins
INS
0.242
2--
MTBP-
-
-
-
3Gain-
MTCL1p.S201Afs*7
Frame_Shift_Del
DEL
0.471
2--
MTDH-
-
-
-
3Gain-
MTERF3p.L119S
Missense
SNP
0.422
3Gain-
MTFR1-
-
-
-
3Gain-
MTHFR-
-
-
-
3Gain-
MTIF3-
-
-
-
3Gain-
MTMR4p.R1044C
Missense
SNP
0.442
2--
MTMR6-
-
-
-
3Gain-
MTMR7p.L474Vfs*2
Frame_Shift_Del
DEL
0.524
2--
MTRF1-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTUS2-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16p.G12892Vfs*18
p.P6257T
Frame_Shift_Del
Missense
DEL
SNP
0.412
0.478
2--
MUC17p.R3705C
Missense
SNP
0.434
3Gain-
MUC3A-
-
-
-
3Gain-
MUC5Bp.A1649T
Missense
SNP
0.399
2--
MYBL1-
-
-
-
3Gain-
MYBPC2p.V307I
Missense
SNP
0.511
2--
MYC-
-
-
-
3Gain-
MYCBP2-
-
-
-
3Gain-
MYCNp.P45Rfs*86
Frame_Shift_Del
DEL
0.408
2--
MYH10p.G66V
Missense
SNP
0.467
2--
MYH11p.P1940Hfs*91
Frame_Shift_Del
DEL
0.437
2--
MYH13p.G1524C
Missense
SNP
0.485
2--
MYH7Bp.V812A
Missense
SNP
0.456
2--
MYH8p.K209del
In_Frame_Del
DEL
0.448
2--
MYH9p.P522L
Missense
SNP
0.428
2--
MYLKp.E406D
Missense
SNP
0.395
2--
MYO16-
-
-
-
3Gain-
MYO18Bp.F984V
p.R1747C
Missense
Missense
SNP
SNP
0.530
0.449
2--
MYO1Gp.P806Lfs*52
Frame_Shift_Del
DEL
0.449
2--
MYO3Ap.Q174H
Missense
SNP
0.451
2--
MYO5Bp.R999C
Missense
SNP
0.410
2--
MYSM1p.W297L
Missense
SNP
0.458
2--
MZF1p.L632M
Missense
SNP
0.475
2--
MZT1-
-
-
-
3Gain-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NAA25p.N259Tfs*9
Frame_Shift_Del
DEL
0.400
2--
NALCN-
-
-
-
3Gain-
NAPRT-
-
-
-
5Amp-
NARFp.R153H
Missense
SNP
0.051
2--
NAXD-
-
-
-
3Gain-
NBEA-
-
-
-
3Gain-
NBEAL2p.Q2666K
Missense
SNP
0.385
2--
NBNp.R551Gfs*8
Frame_Shift_Del
DEL
0.200
3Gain-
NCALD-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCLNp.G242R
Missense
SNP
0.497
2--
NCOA2-
-
-
-
3Gain-
NCOR2p.I976Sfs*87
Frame_Shift_Del
DEL
0.498
2--
NDFIP2-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDST4p.T605Nfs*22
Frame_Shift_Ins
INS
0.238
2--
NDUFAF6-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NECAB1-
-
-
-
3Gain-
NEK3-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NEUROG2p.A244V
Missense
SNP
0.511
2--
NF1p.R2637*
Nonsense
SNP
1.000
2--
NFAT5p.Q257R
Missense
SNP
0.387
2--
NFRKBp.V337Gfs*2
p.G540W
Frame_Shift_Ins
Missense
INS
SNP
0.314
0.367
2--
NHLRC3-
-
-
-
3Gain-
NID2p.A158T
Missense
SNP
0.573
2--
NIFK-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKD1p.R288Pfs*12
Frame_Shift_Ins
INS
0.275
2--
NKX2-3p.A297V
Missense
SNP
0.492
2--
NKX2-4p.A291P
Missense
SNP
0.417
2--
NKX6-3-
-
-
-
3Gain-
NOL4Lp.R239H
Missense
SNP
0.063
2--
NOTCH1p.S1541N
Missense
SNP
0.069
2--
NOTOp.P95L
Missense
SNP
0.447
2--
NOV-
-
-
-
3Gain-
NPBWR1-
-
-
-
3Gain-
NPEPPSp.H718Y
Missense
SNP
0.356
2--
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NR2F1-
-
-
-
3Gain-
NR4A3p.H119del
In_Frame_Del
DEL
0.342
2--
NRBP2-
-
-
-
5Amp-
NRG1p.K91Sfs*24
Frame_Shift_Del
DEL
0.280
2--
NRXN1p.D979Y
p.G834C
Missense
Missense
SNP
SNP
0.200
0.533
2--
NSD1p.V1301I
Missense
SNP
0.474
2--
NSD3-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2p.A81V
Missense
SNP
0.160
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDT13p.A43T
Missense
SNP
0.424
2--
NUDT15-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUP58-
-
-
-
3Gain-
NUTM2Dp.L738I
Missense
SNP
1.000
2--
NYAP2p.P416H
Missense
SNP
0.391
2--
OC90-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
OLFM1p.S48I
Missense
SNP
0.514
2--
OLFM4-
-
-
-
3Gain-
OLIG2p.R255C
Missense
SNP
0.378
2--
OLIG3p.R36S
Missense
SNP
0.579
2--
OPLAH-
-
-
-
5Amp-
OPRK1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H12-
-
-
-
1Loss-
OR11H2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR13G1-
-
-
-
0Del-
OR14J1p.L84I
Missense
SNP
0.361
2--
OR2A25p.M100V
Missense
SNP
0.390
2--
OR2B11-
-
-
-
0Del-
OR2C3-
-
-
-
0Del-
OR2G2-
-
-
-
0Del-
OR2G3-
-
-
-
0Del-
OR4K1p.L63P
Missense
SNP
0.333
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1p.S215F
Missense
SNP
0.444
2--
OR52K1p.E23*
Nonsense
SNP
0.326
2--
OR5B3p.A306T
Missense
SNP
0.426
2--
OR5D18p.W198C
Missense
SNP
0.482
2--
OR5M9p.Q310R
Missense
SNP
0.667
2--
OR7C2p.C179Vfs*7
Frame_Shift_Del
DEL
0.380
2--
OR8U1p.L27Sfs*14
Frame_Shift_Del
DEL
0.464
2--
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTOGp.A73V
p.R2096W
Missense
Missense
SNP
SNP
0.423
0.527
2--
OTOP1p.K511N
Missense
SNP
0.443
2--
OTUD6B-
-
-
-
3Gain-
OXGR1-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
P2RY13p.V235Yfs*81
Frame_Shift_Del
DEL
0.450
2--
P4HTMp.A236T
Missense
SNP
0.495
2--
PABPC1-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PACRGp.F113Lfs*7
p.A156S
Frame_Shift_Del
Missense
DEL
SNP
0.293
0.286
2--
PACSIN1p.R37H
Missense
SNP
0.545
2--
PAG1-
-
-
-
3Gain-
PAIP2Bp.K122E
p.K115N
Missense
Missense
SNP
SNP
0.323
0.339
2--
PALLDp.A168Qfs*13
Frame_Shift_Del
DEL
0.476
2--
PAN3-
-
-
-
3Gain-
PAPPA2p.P72S
Missense
SNP
0.547
2--
PAQR5p.X129_splice
Splice_Site
SNP
0.565
2--
PAQR8p.A4T
Missense
SNP
0.066
2--
PARP1p.T799Lfs*41
Frame_Shift_Del
DEL
0.391
2--
PARP10-
-
-
-
5Amp-
PARP4-
-
-
-
3Gain-
PAX1p.A86T
Missense
SNP
0.447
2--
PCCA-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH20-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA10-
-
-
-
3Gain-
PCDHA11-
-
-
-
3Gain-
PCDHA12-
-
-
-
3Gain-
PCDHA13-
-
-
-
3Gain-
PCDHA2-
-
-
-
3Gain-
PCDHA3p.N199Ifs*2
Frame_Shift_Del
DEL
0.430
3Gain-
PCDHA4-
-
-
-
3Gain-
PCDHA5p.G28V
Missense
SNP
0.490
3Gain-
PCDHA6-
-
-
-
3Gain-
PCDHA7-
-
-
-
3Gain-
PCDHA8-
-
-
-
3Gain-
PCDHA9-
-
-
-
3Gain-
PCDHGA3p.L711M
Missense
SNP
0.516
2--
PCDHGB7p.A706V
Missense
SNP
0.485
2--
PCID2-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCSK5p.A121T
Missense
SNP
0.531
2--
PDCD1p.T36Hfs*70
Frame_Shift_Ins
INS
0.294
2--
PDE7Ap.S113R
Missense
SNP
0.279
3Gain-
PDIA5p.P387Afs*44
Frame_Shift_Ins
INS
0.319
2--
PDP1p.D169*
Frame_Shift_Ins
INS
0.150
3Gain-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDZD2p.V1845Rfs*6
Frame_Shift_Ins
INS
0.299
2--
PEG3p.D141N
Missense
SNP
0.498
2--
PELI2p.W308R
Missense
SNP
0.526
2--
PENK-
-
-
-
3Gain-
PEX10p.Y66C
Missense
SNP
1.000
2--
PEX2-
-
-
-
3Gain-
PEX5L-
-
-
-
1Loss-
PFASp.E786D
Missense
SNP
0.487
2--
PFKPp.L79P
Missense
SNP
0.529
2--
PGM5p.K112R
Missense
SNP
0.581
2--
PHACTR4p.S64Vfs*12
Frame_Shift_Del
DEL
0.818
2--
PHC1p.S131Y
Missense
SNP
0.548
2--
PHF11-
-
-
-
3Gain-
PHF20L1p.K298Rfs*66
Frame_Shift_Del
DEL
0.258
3Gain-
PHKA2p.V801I
Missense
SNP
1.000
NDND-
PI15-
-
-
-
3Gain-
PIBF1-
-
-
-
3Gain-
PIGOp.R731Vfs*17
Frame_Shift_Del
DEL
0.431
2--
PIK3C2Ap.L273F
Missense
SNP
0.465
2--
PIK3CAp.R88Q
Missense
SNP
0.600
2--
PIK3R6p.P378H
Missense
SNP
0.471
2--
PIKFYVEp.X546_splice
Splice_Site
SNP
0.556
2--
PIP4P2-
-
-
-
3Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PLAG1-
-
-
-
3Gain-
PLAT-
-
-
-
3Gain-
PLAUp.A289V
Missense
SNP
0.477
2--
PLCB3p.R918Afs*95
Frame_Shift_Del
DEL
0.535
2--
PLD1-
-
-
-
3Gain-
PLECp.R2164*
Nonsense
SNP
0.237
5Amp-
PLEKHA2-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHG2p.P374T
Missense
SNP
0.510
2--
PLGp.L657P
Missense
SNP
0.455
2--
PLK1p.F127L
Missense
SNP
0.558
2--
PLOD1-
-
-
-
3Gain-
PLPBP-
-
-
-
3Gain-
PLPP5-
-
-
-
3Gain-
PLPPR4p.V522M
Missense
SNP
1.000
2--
PMEPA1p.E156D
Missense
SNP
0.440
2--
PMP2-
-
-
-
3Gain-
PNPLA8p.S780Qfs*12
Frame_Shift_Del
DEL
0.500
2--
PODNp.L359R
Missense
SNP
1.000
2--
POFUT2p.L113I
Missense
SNP
0.480
2--
POLB-
-
-
-
3Gain-
POLMp.S502R
Missense
SNP
0.467
2--
POLR1Cp.R125Q
Missense
SNP
0.435
2--
POLR1D-
-
-
-
3Gain-
POLR2Ep.L160del
In_Frame_Del
DEL
0.477
2--
POLR2K-
-
-
-
3Gain-
POMGNT1p.H225Y
Missense
SNP
1.000
2--
POMK-
-
-
-
3Gain-
POMP-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POTEG-
-
-
-
1Loss-
POTEM-
-
-
-
1Loss-
POU3F4p.R205I
Missense
SNP
1.000
NDND-
POU4F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU5F2-
-
-
-
3Gain-
PPARGC1Bp.R410C
p.R661*
Missense
Nonsense
SNP
SNP
0.336
0.500
2--
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.500
2--
PPDPFL-
-
-
-
3Gain-
PPP1R16A-
-
-
-
5Amp-
PPP1R42-
-
-
-
3Gain-
PPP1R9Ap.K495Nfs*3
Frame_Shift_Del
DEL
0.400
2--
PPP2CAp.S261Qfs*11
Frame_Shift_Ins
INS
0.280
2--
PPP3CBp.K85Nfs*14
Frame_Shift_Del
DEL
0.326
2--
PRAMEF4p.W6R
Missense
SNP
1.000
2--
PRDM11p.R506H
Missense
SNP
0.468
2--
PRDM14-
-
-
-
3Gain-
PRDM15p.E613Nfs*35
Frame_Shift_Del
DEL
0.406
2--
PREX2-
-
-
-
3Gain-
PRKAA2p.F90Lfs*3
Frame_Shift_Del
DEL
0.274
2--
PRKAR2Bp.R108*
Nonsense
SNP
0.576
2--
PRKCEp.R458M
Missense
SNP
0.544
2--
PRKDC-
-
-
-
3Gain-
PRM3p.P69Q
Missense
SNP
0.354
2--
PROCp.M406Wfs*15
Frame_Shift_Del
DEL
0.376
2--
PROSER1-
-
-
-
3Gain-
PROZ-
-
-
-
3Gain-
PRPF8p.G1992D
Missense
SNP
0.575
2--
PRR12p.P408Hfs*62
Frame_Shift_Del
DEL
0.394
2--
PRR27-
-
-
-
1Loss-
PRRC2Bp.E328Gfs*35
Frame_Shift_Ins
INS
0.382
2--
PRRT1p.P82S
Missense
SNP
0.514
2--
PSCA-
-
-
-
5Amp-
PSKH2-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PTCH1p.R1308Qfs*17
p.S1203Afs*52
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.339
0.422
2--
PTDSS1-
-
-
-
3Gain-
PTK2-
-
-
-
5Amp-
PTP4A3-
-
-
-
5Amp-
PTPN21p.R446H
Missense
SNP
0.482
2--
PTPRCAPp.L46M
Missense
SNP
0.443
2--
PUF60-
-
-
-
5Amp-
PXDNLp.T596A
Missense
SNP
0.296
3Gain-
PYCARDp.D175V
Missense
SNP
0.500
2--
PYCR3-
-
-
-
5Amp-
PYGO1p.N275Mfs*8
Frame_Shift_Del
DEL
0.444
2--
QPCTLp.G144V
Missense
SNP
0.513
2--
RAB11FIP1-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB6Bp.R84W
Missense
SNP
0.483
2--
RABL6p.X428_splice
Splice_Site
SNP
0.492
2--
RACK1p.S115del
In_Frame_Del
DEL
0.429
2--
RAD21-
-
-
-
3Gain-
RAD23Ap.H210R
Missense
SNP
0.489
2--
RAD50p.K722Rfs*14
p.N934Kfs*10
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.464
0.333
2--
RAD54B-
-
-
-
3Gain-
RALB-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAP2A-
-
-
-
3Gain-
RAPH1p.P767H
Missense
SNP
0.432
2--
RARS2p.K352Sfs*10
Frame_Shift_Del
DEL
0.548
2--
RASA3-
-
-
-
3Gain-
RASAL3p.A771P
Missense
SNP
0.439
2--
RASL11A-
-
-
-
3Gain-
RB1-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM15Bp.R822G
Missense
SNP
0.565
2--
RBM26-
-
-
-
3Gain-
RBM33p.H613Tfs*37
Frame_Shift_Del
DEL
0.342
2--
RBMXL3p.L1036Cfs*62
Frame_Shift_Del
DEL
0.958
NDND-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RDH10-
-
-
-
3Gain-
RECQLp.V41Sfs*2
Frame_Shift_Del
DEL
0.382
2--
RECQL4-
-
-
-
5Amp-
RELCH-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFTN1p.Q537R
Missense
SNP
0.412
2--
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGS20p.H151Ifs*3
Frame_Shift_Del
DEL
0.387
3Gain-
RGS22-
-
-
-
3Gain-
RHOp.I54Hfs*30
Frame_Shift_Ins
INS
0.359
2--
RHOCp.E64G
Missense
SNP
0.469
2--
RHOQp.R193Efs*2
Frame_Shift_Del
DEL
0.438
2--
RHPN1-
-
-
-
5Amp-
RIC8Ap.L126F
Missense
SNP
0.467
2--
RIDA-
-
-
-
3Gain-
RIMBP3p.A1006V
Missense
SNP
0.142
2--
RIMS2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RLN1p.L6F
Missense
SNP
0.318
2--
RMDN1-
-
-
-
3Gain-
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP62-
-
-
-
NDNDRN7SKP80--RN7SKP62
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP80-
-
-
-
NDNDRN7SKP80--RN7SKP62
RNASEH2B-
-
-
-
3Gain-
RNF113B-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF17-
-
-
-
3Gain-
RNF170-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF219-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
ROCK1p.K1307Mfs*11
Frame_Shift_Del
DEL
0.593
2--
ROS1p.I414Lfs*14
Frame_Shift_Del
DEL
0.361
2--
RP1-
-
-
-
3Gain-
RP11-514P8.7p.R242Gfs*13
Frame_Shift_Del
DEL
0.244
NDND-
RP5-862P8.2p.X518_splice
Splice_Site
SNP
0.500
NDND-
RPIAp.X95_splice
Splice_Site
SNP
0.442
2--
RPL21-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.863
2--
RPL30-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
5Amp-
RPS20-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1p.V647I
Missense
SNP
0.195
2--
RSPO2-
-
-
-
3Gain-
RUBCNL-
-
-
-
3Gain-
RUFY3p.K534Sfs*38
Frame_Shift_Del
DEL
0.364
2--
RUNX1T1-
-
-
-
3Gain-
RXFP2-
-
-
-
3Gain-
RYR2p.W1101*
Nonsense
SNP
1.000
2--
SACSp.T4117I
Missense
SNP
0.356
3Gain-
SAFB2p.P839Lfs*16
Frame_Shift_Del
DEL
0.507
2--
SAMD11p.A673V
Missense
SNP
0.479
2--
SAMD12-
-
-
-
3Gain-
SAP18-
-
-
-
3Gain-
SBNO1p.N1139Mfs*9
Frame_Shift_Del
DEL
0.268
2--
SBSPON-
-
-
-
3Gain-
SCAF1p.T1181Hfs*10
Frame_Shift_Ins
INS
0.309
2--
SCEL-
-
-
-
3Gain-
SCMH1p.A133V
Missense
SNP
0.425
2--
SCN7Ap.N899Kfs*39
Frame_Shift_Ins
INS
0.364
2--
SCRIB-
-
-
-
5Amp-
SCRT1-
-
-
-
5Amp-
SCX-
-
-
-
5Amp-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR42E1p.R92Q
Missense
SNP
0.505
2--
SEC14L1p.V555L
Missense
SNP
0.575
2--
SEC16Ap.Y1041Ifs*423
p.G1764R
Frame_Shift_Del
Missense
DEL
SNP
0.510
0.460
2--
SEC61A2p.Y279H
Missense
SNP
0.494
2--
SEC63p.K535Nfs*28
Frame_Shift_Del
DEL
0.474
2--
SEMA3Ep.K421Nfs*5
Frame_Shift_Del
DEL
0.603
2--
SERP2-
-
-
-
3Gain-
SERPINB10p.L82F
Missense
SNP
0.625
2--
SERPINE3-
-
-
-
3Gain-
SERTM1-
-
-
-
3Gain-
SETD1Ap.G708Vfs*95
p.V1092M
Frame_Shift_Del
Missense
DEL
SNP
0.577
0.457
2--
SETD5p.L905Tfs*3
Frame_Shift_Del
DEL
0.416
2--
SETDB2-
-
-
-
3Gain-
SEZ6L2p.A115Qfs*9
Frame_Shift_Del
DEL
0.549
2--
SF1p.P51Rfs*9
Frame_Shift_Del
DEL
0.400
2--
SFRP1-
-
-
-
3Gain-
SFRP5p.G9Afs*77
Frame_Shift_Del
DEL
0.481
2--
SGCG-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SH3TC1p.P73Lfs*12
Frame_Shift_Del
DEL
0.584
2--
SHANK2p.L1138Cfs*30
Frame_Shift_Del
DEL
0.442
2--
SHARPIN-
-
-
-
5Amp-
SHC3p.H281R
Missense
SNP
0.417
2--
SHISA2-
-
-
-
3Gain-
SHISA8p.A149T
Missense
SNP
0.501
2--
SIAH3-
-
-
-
3Gain-
SIGLEC1p.G651Vfs*13
Frame_Shift_Del
DEL
0.451
2--
SIM2p.L37P
Missense
SNP
0.578
2--
SIN3Ap.D468*
Frame_Shift_Ins
INS
0.286
2--
SIPA1L3p.I780Sfs*21
Frame_Shift_Del
DEL
0.579
2--
SIX3p.R201C
Missense
SNP
0.215
2--
SKA3-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A4p.E684D
Missense
SNP
0.518
2--
SLC15A1p.N689Tfs*42
Frame_Shift_Del
DEL
0.250
3Gain-
SLC17A5p.Y117Mfs*17
Frame_Shift_Del
DEL
0.443
2--
SLC17A7p.L206P
Missense
SNP
0.444
2--
SLC18A3p.Q491*
Nonsense
SNP
0.437
2--
SLC20A2-
-
-
-
3Gain-
SLC25A15-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC26A1p.R365H
Missense
SNP
0.442
2--
SLC26A7p.Q20Sfs*24
Frame_Shift_Del
DEL
0.222
3Gain-
SLC2A10p.E437K
Missense
SNP
0.620
2--
SLC2A2-
-
-
-
3Gain-
SLC30A5p.S488F
Missense
SNP
0.647
2--
SLC30A8-
-
-
-
3Gain-
SLC39A12p.A373T
Missense
SNP
0.578
2--
SLC39A4-
-
-
-
5Amp-
SLC41A2p.S335N
Missense
SNP
0.531
2--
SLC45A4-
-
-
-
5Amp-
SLC46A3-
-
-
-
3Gain-
SLC52A2-
-
-
-
5Amp-
SLC5A9p.S332L
Missense
SNP
1.000
2--
SLC6A20p.R78M
Missense
SNP
0.413
2--
SLC6A8p.P382S
Missense
SNP
1.000
NDND-
SLC7A1-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC9A9p.L30Cfs*7
Frame_Shift_Del
DEL
0.093
2--
SLCO5A1-
-
-
-
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6p.L370I
Missense
SNP
0.775
3Gain-
SLURP1-
-
-
-
5Amp-
SLURP2-
-
-
-
5Amp-
SMAD9-
-
-
-
3Gain-
SMARCAD1p.N347Kfs*4
p.S761T
Frame_Shift_Ins
Missense
INS
SNP
0.214
0.500
2--
SMARCAL1p.G233Efs*2
Frame_Shift_Del
DEL
0.515
2--
SMC4p.K855Sfs*5
Frame_Shift_Del
DEL
0.450
2--
SMCHD1p.K680Nfs*3
Frame_Shift_Del
DEL
0.574
2--
SMIM19-
-
-
-
3Gain-
SMIM2-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAPC2p.A129V
Missense
SNP
0.408
2--
SNRPBp.P231Lfs*?
Frame_Shift_Del
DEL
0.459
2--
SNTB1-
-
-
-
3Gain-
SNTG1p.D184G
Missense
SNP
0.228
3Gain-
SNX16-
-
-
-
3Gain-
SNX25p.R829I
Missense
SNP
0.500
2--
SNX30p.L249S
Missense
SNP
0.604
2--
SNX31-
-
-
-
3Gain-
SOAT2p.W394R
Missense
SNP
0.376
2--
SOCS5p.E85K
Missense
SNP
0.323
2--
SOHLH2p.P335T
Missense
SNP
0.692
3Gain-
SORCS1p.A971T
Missense
SNP
0.075
2--
SOS2p.E839K
Missense
SNP
0.679
2--
SOX1-
-
-
-
3Gain-
SOX11p.P323L
Missense
SNP
0.400
2--
SOX17p.A19V
Missense
SNP
0.536
3Gain-
SOX2p.H293P
Missense
SNP
0.484
1Loss-
SOX21-
-
-
-
3Gain-
SOX4p.G181C
Missense
SNP
0.535
2--
SOX9p.S78_L81del
In_Frame_Del
DEL
0.831
2--
SP100p.E604K
Missense
SNP
0.303
2--
SP2p.V449M
Missense
SNP
0.432
2--
SP8p.V74M
Missense
SNP
0.462
2--
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPART-
-
-
-
3Gain-
SPATA13-
-
-
-
3Gain-
SPATA31D1p.P220H
Missense
SNP
0.509
2--
SPATA5L1p.S688Ffs*4
Frame_Shift_Ins
INS
0.324
2--
SPATC1p.P396Rfs*20
Frame_Shift_Del
DEL
0.222
5Amp-
SPEF2p.K886Rfs*8
Frame_Shift_Del
DEL
0.550
2--
SPERT-
-
-
-
3Gain-
SPG11p.S164P
Missense
SNP
0.465
2--
SPIDR-
-
-
-
3Gain-
SPNS2p.A30Rfs*35
Frame_Shift_Del
DEL
0.562
2--
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRCIN1p.M16Cfs*44
Frame_Shift_Del
DEL
0.410
2--
SREBF2p.G595S
Missense
SNP
0.573
2--
SRGAP3p.V850*
Frame_Shift_Del
DEL
0.386
2--
SRRDp.G36R
Missense
SNP
0.127
2--
SRRTp.R502Q
Missense
SNP
0.585
2--
SSH1p.L973Tfs*23
p.M1046V
Frame_Shift_Ins
Missense
INS
SNP
0.323
0.452
2--
SSH2p.G81Efs*41
p.D577G
Frame_Shift_Del
Missense
DEL
SNP
0.486
0.462
2--
SSMEM1p.L199I
Missense
SNP
0.462
2--
SSPOp.G1669C
Missense
SNP
0.578
2--
SSTR4p.V100M
Missense
SNP
0.527
2--
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST8SIA6p.L267Ffs*38
Frame_Shift_Del
DEL
0.568
2--
STAB1p.P978Lfs*57
Frame_Shift_Del
DEL
0.436
2--
STAMBPL1p.K405Rfs*21
Frame_Shift_Del
DEL
0.561
2--
STAR-
-
-
-
3Gain-
STARD13-
-
-
-
3Gain-
STATH-
-
-
-
1Loss-
STAU2-
-
-
-
3Gain-
STIM2p.G86*
Nonsense
SNP
0.536
2--
STK24-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STRADAp.R333Gfs*42
Frame_Shift_Del
DEL
0.446
2--
STRAPp.A149Lfs*26
Frame_Shift_Del
DEL
0.474
2--
STRN4p.E733K
Missense
SNP
0.474
2--
SUCLA2-
-
-
-
3Gain-
SUGT1-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SUPT20H-
-
-
-
3Gain-
SUPV3L1p.V228L
Missense
SNP
0.483
2--
SYBU-
-
-
-
3Gain-
SYNE1p.P3228H
Missense
SNP
0.486
2--
SYNGR4p.L155R
Missense
SNP
0.605
2--
Tp.P260H
Missense
SNP
0.578
NDND-
TACC1-
-
-
-
3Gain-
TAF1Cp.P707Lfs*7
Frame_Shift_Del
DEL
0.502
2--
TAF2-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TBC1D25p.Q672*
Nonsense
SNP
1.000
NDND-
TBC1D31-
-
-
-
3Gain-
TBC1D4-
-
-
-
3Gain-
TBKBP1p.L588I
Missense
SNP
0.462
2--
TBR1p.R548H
Missense
SNP
0.449
2--
TBRG4p.R271W
Missense
SNP
0.476
2--
TBX1p.E87G
Missense
SNP
0.477
2--
TBX5p.D331N
Missense
SNP
0.565
2--
TCAF2p.I756Hfs*3
Frame_Shift_Ins
INS
0.292
2--
TCEA1-
-
-
-
3Gain-
TCERG1p.K957Rfs*17
Frame_Shift_Del
DEL
0.360
2--
TCF20p.L1943Cfs*118
Frame_Shift_Del
DEL
0.483
2--
TCF24-
-
-
-
3Gain-
TCF4p.T86A
Missense
SNP
0.510
2--
TCIM-
-
-
-
3Gain-
TDGp.K84Nfs*21
Frame_Shift_Del
DEL
0.192
2--
TDRD3p.E110D
Missense
SNP
0.299
3Gain-
TEAD2p.E3Nfs*66
Frame_Shift_Del
DEL
0.430
2--
TENM4p.P180Rfs*21
Frame_Shift_Del
DEL
0.442
2--
TERF1-
-
-
-
3Gain-
TEX11p.A561Lfs*5
Frame_Shift_Del
DEL
1.000
NDND-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TFCP2L1-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TGp.D2514G
Missense
SNP
0.250
3Gain-
TGDS-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP4p.E2K
Missense
SNP
0.429
2--
THEM6-
-
-
-
5Amp-
THSD1-
-
-
-
3Gain-
TIGD5-
-
-
-
5Amp-
TIPARPp.D326G
Missense
SNP
0.553
2--
TJAP1p.S246L
Missense
SNP
0.397
2--
TLE3p.A447V
Missense
SNP
0.444
2--
TM2D2-
-
-
-
3Gain-
TM9SF2-
-
-
-
3Gain-
TM9SF3p.L346M
Missense
SNP
0.597
2--
TMCO3-
-
-
-
3Gain-
TMEM117p.S485*
Nonsense
SNP
0.397
2--
TMEM131p.A1276V
Missense
SNP
0.479
2--
TMEM185B-
-
-
-
3Gain-
TMEM192p.G5Afs*46
Frame_Shift_Del
DEL
0.463
2--
TMEM210p.P142Rfs*21
Frame_Shift_Del
DEL
0.388
2--
TMEM212-
-
-
-
3Gain-
TMEM249-
-
-
-
5Amp-
TMEM255B-
-
-
-
3Gain-
TMEM38Ap.S267I
Missense
SNP
0.433
2--
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67p.V596M
Missense
SNP
0.286
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMTC4-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFRSF1Ap.A446T
Missense
SNP
0.063
2--
TNFRSF1B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNFSF14p.P111A
Missense
SNP
0.530
2--
TNIK-
-
-
-
3Gain-
TNNp.D196G
Missense
SNP
0.507
2--
TNS1p.S971P
Missense
SNP
0.480
2--
TNXBp.I716V
Missense
SNP
0.495
2--
TOB1p.L229Vfs*7
Frame_Shift_Del
DEL
0.465
2--
TOLLIP-
-
-
-
3Gain-
TONSL-
-
-
-
5Amp-
TOP1MT-
-
-
-
5Amp-
TOX-
-
-
-
3Gain-
TP53p.R273C
p.R267W
Missense
Missense
SNP
SNP
0.467
0.500
2--
TP53INP1-
-
-
-
3Gain-
TP53TG5p.R224G
Missense
SNP
0.533
2--
TP73-
-
-
-
3Gain-
TPCN1p.R277H
Missense
SNP
0.516
2--
TPD52-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTE2-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRANK1p.R70H
Missense
SNP
0.417
2--
TRAPPC9p.A231D
Missense
SNP
0.192
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIM13-
-
-
-
3Gain-
TRIM27p.P348H
Missense
SNP
0.538
2--
TRIM33p.V127M
Missense
SNP
1.000
2--
TRIM55-
-
-
-
3Gain-
TRIOp.S2308G
p.A2381V
Missense
Missense
SNP
SNP
0.354
0.551
2--
TRIP12p.Q420Pfs*7
p.Y1532*
Frame_Shift_Ins
Nonsense
INS
SNP
0.355
0.345
2--
TRIQK-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRPA1p.T598M
p.M257I
Missense
Missense
SNP
SNP
0.471
0.221
3Gain-
TRPC4-
-
-
-
3Gain-
TRPS1p.N1206Mfs*5
Frame_Shift_Del
DEL
0.283
3Gain-
TSC22D1-
-
-
-
3Gain-
TSEN34p.E232D
Missense
SNP
0.500
2--
TSN-
-
-
-
3Gain-
TSNARE1-
-
-
-
5Amp-
TSPYL5-
-
-
-
3Gain-
TSTA3-
-
-
-
5Amp-
TTC14-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTLL12p.H639Q
Missense
SNP
0.505
2--
TTNp.I18032T
Missense
SNP
0.367
2--
TTPA-
-
-
-
3Gain-
TUBA3Cp.D322Mfs*23
Frame_Shift_Del
DEL
0.314
3Gain-
TUBB4Bp.T399M
Missense
SNP
0.476
2--
TUBGCP3-
-
-
-
3Gain-
TXNRD2p.S160N
Missense
SNP
0.400
2--
U2SURPp.K866Nfs*10
Frame_Shift_Del
DEL
0.667
2--
UBAC2-
-
-
-
3Gain-
UBE2L5-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBIAD1-
-
-
-
3Gain-
UBL3-
-
-
-
3Gain-
UBR1p.E1135*
Nonsense
SNP
0.449
2--
UBR3p.V1169Sfs*85
Frame_Shift_Del
DEL
0.338
2--
UBR4p.K1708R
Missense
SNP
0.486
2--
UBR5-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UCHL3-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UGGT2p.L1467P
Missense
SNP
0.455
3Gain-
UGT2B7p.C156Vfs*46
Frame_Shift_Del
DEL
0.481
2--
UHRF1BP1Lp.P364T
Missense
SNP
0.471
2--
ULK1p.L78M
Missense
SNP
0.593
2--
UNC5D-
-
-
-
3Gain-
UPF3A-
-
-
-
3Gain-
UQCRBp.K19Nfs*14
Frame_Shift_Del
DEL
0.262
3Gain-
URAD-
-
-
-
3Gain-
USF3p.T992I
Missense
SNP
0.357
2--
USH1Gp.E142K
Missense
SNP
0.462
2--
USH2Ap.T2457I
Missense
SNP
0.408
2--
USP12-
-
-
-
3Gain-
USP17L12-
-
-
-
4Gain-
USP17L13-
-
-
-
4Gain-
USP17L15-
-
-
-
4Gain-
USP17L17-
-
-
-
4Gain-
USP17L18-
-
-
-
4Gain-
USP17L19-
-
-
-
4Gain-
USP17L20-
-
-
-
4Gain-
USP17L21-
-
-
-
4Gain-
USP17L22-
-
-
-
4Gain-
USP17L23-
-
-
-
4Gain-
USP17L24-
-
-
-
4Gain-
USP17L25-
-
-
-
4Gain-
USP17L26-
-
-
-
4Gain-
USP17L27-
-
-
-
4Gain-
USP17L28-
-
-
-
4Gain-
USP17L29-
-
-
-
4Gain-
USP17L30-
-
-
-
4Gain-
USP17L5-
-
-
-
4Gain-
USPL1-
-
-
-
3Gain-
UTP14Cp.G600W
Missense
SNP
0.192
3Gain-
UTP23-
-
-
-
3Gain-
UTRNp.R2714Q
Missense
SNP
0.076
2--
VAPAp.V97I
Missense
SNP
0.547
2--
VCPIP1p.K632E
Missense
SNP
0.183
3Gain-
VDAC3-
-
-
-
3Gain-
VIL1p.R620Gfs*33
Frame_Shift_Del
DEL
0.497
2--
VIRMA-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VPS13B-
-
-
-
3Gain-
VPS13D-
-
-
-
3Gain-
VPS28-
-
-
-
5Amp-
VPS36-
-
-
-
3Gain-
VPS37Dp.Q26*
Nonsense
SNP
0.465
2--
VRK2p.V260A
Missense
SNP
0.352
2--
VWA8-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WBSCR22p.E235G
Missense
SNP
0.356
NDND-
WDFY2-
-
-
-
3Gain-
WDFY3p.A219T
Missense
SNP
0.575
2--
WDR47p.R81Gfs*7
Frame_Shift_Del
DEL
0.364
2--
WDR55p.K341Rfs*8
Frame_Shift_Del
DEL
0.507
2--
WDR59p.R485C
Missense
SNP
0.475
2--
WDR64p.R239I
Missense
SNP
1.000
2--
WDR7p.K663N
Missense
SNP
0.431
2--
WDR90p.R218S
Missense
SNP
0.455
2--
WDYHV1-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WNK4p.V608Cfs*53
Frame_Shift_Del
DEL
0.442
2--
WNT1p.G169Afs*30
Frame_Shift_Del
DEL
0.446
2--
WRAP73-
-
-
-
3Gain-
WWP1-
-
-
-
3Gain-
XKR4-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XPOTp.F126Lfs*6
Frame_Shift_Del
DEL
0.957
2--
YEATS2p.T982M
Missense
SNP
0.513
2--
YIPF3p.G302W
Missense
SNP
0.429
2--
YTHDC2p.E1302K
Missense
SNP
0.565
2--
YTHDF3-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
ZAR1L-
-
-
-
3Gain-
ZBBXp.K325Nfs*55
Frame_Shift_Del
DEL
0.300
2--
ZBTB10-
-
-
-
3Gain-
ZBTB26p.N380Kfs*4
Frame_Shift_Ins
INS
0.266
2--
ZBTB4p.A5Cfs*18
Frame_Shift_Ins
INS
0.270
2--
ZBTB7Ap.A332Pfs*22
Frame_Shift_Del
DEL
0.501
2--
ZC2HC1A-
-
-
-
3Gain-
ZC2HC1Cp.E217*
Nonsense
SNP
0.489
2--
ZC3H13-
-
-
-
3Gain-
ZC3H3-
-
-
-
5Amp-
ZC3H7Ap.K783Nfs*23
Frame_Shift_Del
DEL
0.385
2--
ZDHHC16p.W287*
Nonsense
SNP
0.456
2--
ZDHHC20-
-
-
-
3Gain-
ZFAND1-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX4p.K340Nfs*15
Frame_Shift_Del
DEL
0.211
3Gain-
ZFP41-
-
-
-
5Amp-
ZFPM2-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZIC2-
-
-
-
3Gain-
ZIC4p.E289D
Missense
SNP
0.449
2--
ZIC5-
-
-
-
3Gain-
ZMAT4-
-
-
-
3Gain-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND11p.*568R
Frame_Shift_Del
DEL
0.552
2--
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.449
2--
ZNF100-
-
-
-
3Gain-
ZNF106p.S482Pfs*33
Frame_Shift_Del
DEL
0.476
2--
ZNF154p.Y133*
Nonsense
SNP
0.497
2--
ZNF16-
-
-
-
5Amp-
ZNF160-
-
-
-
3Gain-
ZNF208-
-
-
-
3Gain-
ZNF217p.N55Kfs*31
Frame_Shift_Del
DEL
0.406
2--
ZNF235p.K317Nfs*154
Frame_Shift_Del
DEL
0.441
2--
ZNF250-
-
-
-
5Amp-
ZNF251-
-
-
-
5Amp-
ZNF254-
-
-
-
3Gain-
ZNF257-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF330p.K5Rfs*18
Frame_Shift_Del
DEL
0.393
2--
ZNF34-
-
-
-
5Amp-
ZNF347-
-
-
-
3Gain-
ZNF384p.K197del
In_Frame_Del
DEL
0.487
2--
ZNF415-
-
-
-
3Gain-
ZNF423p.R920H
Missense
SNP
0.449
2--
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF45p.K442Nfs*98
Frame_Shift_Del
DEL
0.358
2--
ZNF468-
-
-
-
3Gain-
ZNF48p.R249Dfs*43
Frame_Shift_Del
DEL
0.493
2--
ZNF492-
-
-
-
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF517-
-
-
-
5Amp-
ZNF541p.P231Rfs*49
Frame_Shift_Del
DEL
0.413
2--
ZNF572-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF600-
-
-
-
3Gain-
ZNF609p.K734Rfs*12
Frame_Shift_Del
DEL
0.491
2--
ZNF611-
-
-
-
3Gain-
ZNF623-
-
-
-
5Amp-
ZNF628p.P239T
Missense
SNP
0.502
2--
ZNF665-
-
-
-
3Gain-
ZNF675-
-
-
-
3Gain-
ZNF676-
-
-
-
3Gain-
ZNF677-
-
-
-
3Gain-
ZNF681-
-
-
-
3Gain-
ZNF696-
-
-
-
5Amp-
ZNF697p.R457C
Missense
SNP
0.508
2--
ZNF7-
-
-
-
5Amp-
ZNF701-
-
-
-
3Gain-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
5Amp-
ZNF708-
-
-
-
3Gain-
ZNF714-
-
-
-
3Gain-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
3Gain-
ZNF728p.A432S
Missense
SNP
0.491
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF732p.S116R
Missense
SNP
0.395
2--
ZNF738-
-
-
-
3Gain-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF784p.R212*
Nonsense
SNP
0.531
2--
ZNF800p.R247H
Missense
SNP
0.509
2--
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF837p.G253S
Missense
SNP
0.487
2--
ZNF841p.F467del
In_Frame_Del
DEL
0.361
2--
ZNF845-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF91-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZP3p.N297S
Missense
SNP
0.359
2--
ZSCAN26p.V298A
Missense
SNP
0.576
2--
ZSWIM2p.S398L
Missense
SNP
0.385
2--
ZSWIM8p.P1046del
In_Frame_Del
DEL
0.503
2--
ZZEF1p.V991M
Missense
SNP
0.487
2--