PDMR-558786~286-R~FJ2D12D65-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3Gain-
A2Mp.A176T
Missense
SNP
0.285
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA1-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCA2-
-
-
-
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.600
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB6p.G318Vfs*9
Frame_Shift_Del
DEL
0.490
2--
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC10p.Q369*
Nonsense
SNP
0.513
2--
ABCC12p.A191T
Missense
SNP
0.473
2--
ABCC2-
-
-
-
3Gain-
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCF3p.R269W
Missense
SNP
0.534
2--
ABCG8p.T401M
Missense
SNP
0.495
2--
ABHD11-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17B-
-
-
-
3Gain-
ABHD3-
-
-
-
3Gain-
ABHD6p.L88I
Missense
SNP
0.290
2--
ABI1-
-
-
-
3Gain-
ABL1-
-
-
-
3Gain-
ABLIM1-
-
-
-
3Gain-
ABO-
-
-
-
3Gain-
ABRA-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007998.2-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
3GainAC010197.2--HIST1H2BD
AC011005.1-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC022400.6-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC067752.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC068896.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC110275.1-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
ACAA2-
-
-
-
3Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD11p.R127Q
Missense
SNP
0.472
2--
ACADS-
-
-
-
3Gain-
ACADSB-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACER2-
-
-
-
3Gain-
ACHE-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACSL5-
-
-
-
3Gain-
ACSM4-
-
-
-
3Gain-
ACSM6-
-
-
-
3Gain-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTA2-
-
-
-
3Gain-
ACTBp.P332S
Missense
SNP
0.246
3GainAL121758.1--ACTB
ACTL10-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTR1A-
-
-
-
3Gain-
ACTR2p.R354C
Missense
SNP
0.488
2--
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.428
2--
ACVRL1-
-
-
-
3Gain-
ADA-
-
-
-
3Gain-
ADAM12-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM20p.R103Qfs*12
Frame_Shift_Ins
INS
0.284
2--
ADAM21p.V339M
Missense
SNP
0.529
2--
ADAM22-
-
-
-
3Gain-
ADAM28-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM8-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS13-
-
-
-
3Gain-
ADAMTS14-
-
-
-
3Gain-
ADAMTS20-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL2p.H950Pfs*13
Frame_Shift_Ins
INS
0.315
3Gain-
ADAP1-
-
-
-
3Gain-
ADARB2p.P13L
Missense
SNP
0.337
3Gain-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY5p.D192_S193del
In_Frame_Del
DEL
0.475
2--
ADCY6-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADCYAP1p.X37_splice
Splice_Site
SNP
0.347
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADD2p.R134Q
Missense
SNP
0.479
2--
ADD3p.R434C
Missense
SNP
0.627
3Gain-
ADGRA1-
-
-
-
3Gain-
ADGRA2-
-
-
-
3Gain-
ADGRB1-
-
-
-
3Gain-
ADGRD1-
-
-
-
3Gain-
ADGRD2-
-
-
-
3Gain-
ADGRF5p.Y1113H
Missense
SNP
0.511
2--
ADGRL3p.V963Cfs*39
Frame_Shift_Del
DEL
0.357
2--
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
ADIRF-
-
-
-
3Gain-
ADK-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
3Gain-
ADRA1A-
-
-
-
3Gain-
ADRA1D-
-
-
-
3Gain-
ADRA2A-
-
-
-
3Gain-
ADRB1-
-
-
-
3Gain-
ADRB3-
-
-
-
3Gain-
ADRM1-
-
-
-
3Gain-
AEBP1p.Q255Afs*21
Frame_Shift_Ins
INS
0.368
3Gain-
AEBP2-
-
-
-
3Gain-
AFAP1L2-
-
-
-
3Gain-
AFG3L2-
-
-
-
3Gain-
AFMIDp.G71S
Missense
SNP
0.520
2--
AGAP2p.V630M
Missense
SNP
0.266
3Gain-
AGAP3-
-
-
-
3Gain-
AGAP4-
-
-
-
3Gain-
AGAP5-
-
-
-
3Gain-
AGAP6-
-
-
-
3Gain-
AGAP9-
-
-
-
3Gain-
AGBL1p.G236D
Missense
SNP
0.060
2--
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGLp.N1304Kfs*7
Frame_Shift_Ins
INS
0.311
2--
AGMO-
-
-
-
3Gain-
AGO1p.L17Cfs*99
Frame_Shift_Del
DEL
0.437
2--
AGO2-
-
-
-
3Gain-
AGPAT2-
-
-
-
3Gain-
AGPAT5-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AHRRp.R401M
Missense
SNP
0.652
2--
AICDA-
-
-
-
3Gain-
AIF1p.P137H
Missense
SNP
0.507
2--
AIF1L-
-
-
-
3Gain-
AIFM2-
-
-
-
3Gain-
AIM1p.P734L
Missense
SNP
0.509
NDND-
AIMP2-
-
-
-
3Gain-
AJM1-
-
-
-
3Gain-
AK1-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK8-
-
-
-
3Gain-
AKAIN1-
-
-
-
3Gain-
AKAP2-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKAP9p.K39Rfs*17
p.V3673A
Frame_Shift_Del
Missense
DEL
SNP
0.573
0.336
3Gain-
AKNA-
-
-
-
3Gain-
AKR1B1p.A209T
Missense
SNP
0.359
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL035460.1-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL109827.1-
-
-
-
3Gain-
AL117339.5-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3GainAL121758.1--ACTB
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL133352.1-
-
-
-
3Gain-
AL133353.2-
-
-
-
3Gain-
AL133410.3-
-
-
-
3Gain-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162417.1-
-
-
-
3Gain-
AL355315.1-
-
-
-
3Gain-
AL355987.1-
-
-
-
3Gain-
AL355987.3-
-
-
-
3Gain-
AL356053.1p.I188*
Frame_Shift_Del
DEL
0.409
NDND-
AL358113.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
3Gain-
AL365273.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
3Gain-
AL672142.1-
-
-
-
3Gain-
AL807752.6-
-
-
-
3Gain-
AL807752.7-
-
-
-
3Gain-
AL929554.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALDH18A1-
-
-
-
3Gain-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2p.R85C
Missense
SNP
0.521
2--
ALDH1B1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH3B2p.L213M
Missense
SNP
0.478
2--
ALDOB-
-
-
-
3Gain-
ALDOCp.R22Q
Missense
SNP
0.510
2--
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALG2-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALKBH2-
-
-
-
3Gain-
ALKBH4p.C267Y
Missense
SNP
0.339
3Gain-
ALOX15Bp.A191V
Missense
SNP
0.320
2--
ALOX5-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
ALS2CR11p.N837Ifs*9
Frame_Shift_Del
DEL
0.511
NDND-
ALX1-
-
-
-
3Gain-
AMBP-
-
-
-
3Gain-
AMDHD1-
-
-
-
3Gain-
AMER1p.G105D
Missense
SNP
0.469
NDND-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMTp.L155I
Missense
SNP
0.446
2--
AMZ1-
-
-
-
3Gain-
ANAPC16-
-
-
-
3Gain-
ANAPC2-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK1-
-
-
-
3Gain-
ANK2p.A1819V
Missense
SNP
0.505
2--
ANK3-
-
-
-
3Gain-
ANKEF1-
-
-
-
3Gain-
ANKFN1p.R763K
Missense
SNP
0.420
2--
ANKIB1-
-
-
-
3Gain-
ANKLE1p.S246Afs*80
Frame_Shift_Del
DEL
0.404
2--
ANKLE2-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD1-
-
-
-
3Gain-
ANKRD11p.A2265Pfs*72
p.A2275T
Frame_Shift_Del
Missense
DEL
SNP
0.489
0.532
2--
ANKRD12-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD16-
-
-
-
3Gain-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD2-
-
-
-
3Gain-
ANKRD22-
-
-
-
3Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD27p.H464Y
Missense
SNP
0.396
2--
ANKRD29-
-
-
-
3Gain-
ANKRD30A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD31p.G512Vfs*20
Frame_Shift_Del
DEL
0.457
2--
ANKRD33-
-
-
-
3Gain-
ANKRD45p.F15S
Missense
SNP
0.505
2--
ANKRD46-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS1Bp.R173W
Missense
SNP
0.066
3Gain-
ANKS3p.R550H
Missense
SNP
0.500
2--
ANKS6-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6p.V698I
Missense
SNP
0.652
3Gain-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANTXR1p.R480C
Missense
SNP
0.550
2--
ANTXRL-
-
-
-
3Gain-
ANXA1-
-
-
-
3Gain-
ANXA11-
-
-
-
3Gain-
ANXA13-
-
-
-
3Gain-
ANXA7-
-
-
-
3Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1p.R190Gfs*18
Frame_Shift_Del
DEL
0.640
3Gain-
AP1G1p.R8W
Missense
SNP
0.459
2--
AP1M2p.K354Qfs*30
Frame_Shift_Ins
INS
0.309
2--
AP1S1-
-
-
-
3Gain-
AP2A2p.P670Lfs*67
p.A376T
Frame_Shift_Del
Missense
DEL
SNP
0.571
0.533
2--
AP3M1-
-
-
-
3Gain-
AP3M2-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APBA1-
-
-
-
3Gain-
APBB1IP-
-
-
-
3Gain-
APCp.E902K
p.P1604L
Missense
Missense
SNP
SNP
0.488
0.489
2--
APCDD1-
-
-
-
3Gain-
APCDD1L-
-
-
-
3Gain-
APLP2p.D228E
Missense
SNP
0.097
2--
APMAP-
-
-
-
3Gain-
APOBEC1-
-
-
-
3Gain-
APOBRp.G267C
Missense
SNP
0.568
2--
APOF-
-
-
-
3Gain-
APOL2p.R87Q
Missense
SNP
0.422
2--
APOLD1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP2p.T125M
Missense
SNP
0.585
3Gain-
AQP3-
-
-
-
3Gain-
AQP4-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
ARAP2p.A469T
p.G250*
Missense
Nonsense
SNP
SNP
0.378
0.469
2--
ARC-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1p.R782H
Missense
SNP
0.667
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFRP1-
-
-
-
3Gain-
ARGLU1p.R45H
p.A186T
Missense
Missense
SNP
SNP
0.510
0.431
2--
ARHGAP12-
-
-
-
3Gain-
ARHGAP19-
-
-
-
3Gain-
ARHGAP19-SLIT1-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP39p.V443I
Missense
SNP
0.762
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP6p.G745R
p.R433Q
Missense
Missense
SNP
SNP
0.552
0.450
NDND-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF1p.D382N
Missense
SNP
0.526
2--
ARHGEF10-
-
-
-
3Gain-
ARHGEF10Lp.T495M
Missense
SNP
0.575
2--
ARHGEF25-
-
-
-
3Gain-
ARHGEF39-
-
-
-
3Gain-
ARHGEF40p.R1076Gfs*18
Frame_Shift_Del
DEL
0.465
2--
ARID1Ap.P1175Hfs*5
p.D1850Gfs*4
p.X751_splice
Frame_Shift_Del
Frame_Shift_Ins
Splice_Site
DEL
INS
SNP
0.442
0.282
0.509
2--
ARID1Bp.Q1810*
Nonsense
SNP
0.490
2--
ARID2p.R143H
Missense
SNP
0.450
3Gain-
ARID3Ap.X499_splice
Splice_Site
SNP
0.380
2--
ARID3C-
-
-
-
3Gain-
ARID4Bp.Q1041*
Nonsense
SNP
0.546
2--
ARID5B-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL2p.R78Q
Missense
SNP
0.475
2--
ARL3-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARL6IP4-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4p.A903T
Missense
SNP
0.083
3Gain-
ARMC9p.G2R
Missense
SNP
0.490
2--
ARMH3-
-
-
-
3Gain-
ARMS2-
-
-
-
3Gain-
ARNTL2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARPC5L-
-
-
-
3Gain-
ARRDC1-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
AS3MT-
-
-
-
3Gain-
ASAH1-
-
-
-
3Gain-
ASAH2-
-
-
-
3Gain-
ASAH2B-
-
-
-
3Gain-
ASAP1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB6-
-
-
-
3Gain-
ASB8-
-
-
-
3Gain-
ASCC1-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASH1Lp.I1341N
Missense
SNP
0.523
2--
ASH2L-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPH-
-
-
-
3Gain-
ASPN-
-
-
-
3Gain-
ASS1p.A81T
p.A106T
Missense
Missense
SNP
SNP
0.467
0.556
3Gain-
ASTN1p.A847V
Missense
SNP
0.457
2--
ASTN2-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL3-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
3Gain-
ATAD2p.D280E
p.D275E
Missense
Missense
SNP
SNP
0.613
0.597
3Gain-
ATE1-
-
-
-
3Gain-
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATN1-
-
-
-
3Gain-
ATOH7-
-
-
-
3Gain-
ATP10Ap.T1205Pfs*4
Frame_Shift_Del
DEL
0.380
2--
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5F1E-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MD-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B1p.R331W
Missense
SNP
0.500
2--
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1Dp.R30Q
Missense
SNP
0.552
2--
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP8A1p.R725H
Missense
SNP
0.406
2--
ATP8A2p.V506M
Missense
SNP
0.522
2--
ATP8B1-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATP9Bp.A992V
Missense
SNP
0.361
3Gain-
ATRIPp.L345Cfs*31
Frame_Shift_Del
DEL
0.405
2--
ATRN-
-
-
-
3Gain-
ATRNL1-
-
-
-
3Gain-
ATXN2-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AUH-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVILp.G118Vfs*6
p.T480M
Frame_Shift_Del
Missense
DEL
SNP
0.533
0.271
3Gain-
AVL9p.G397A
Missense
SNP
0.338
3Gain-
AVP-
-
-
-
3Gain-
AVPI1-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT6p.G221D
Missense
SNP
0.531
2--
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALNT4p.T982M
Missense
SNP
0.556
2--
B4GALT1-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BAAT-
-
-
-
3Gain-
BAG1-
-
-
-
3Gain-
BAG3-
-
-
-
3Gain-
BAG4-
-
-
-
3Gain-
BAHCC1p.G1603R
Missense
SNP
0.418
2--
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2p.V396M
Missense
SNP
0.411
2--
BAMBI-
-
-
-
3Gain-
BANF2-
-
-
-
3Gain-
BANPp.A232T
Missense
SNP
0.571
2--
BARHL1-
-
-
-
3Gain-
BARX1-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
3Gain-
BBIP1-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR3p.N733Tfs*9
Frame_Shift_Del
DEL
0.482
2--
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCCIP-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCHEp.N134Mfs*5
Frame_Shift_Del
DEL
0.450
2--
BCKDHAp.T211M
Missense
SNP
0.638
2--
BCL2-
-
-
-
3Gain-
BCL2L1-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9Lp.A77Gfs*14
Frame_Shift_Ins
INS
0.298
2--
BCRp.R232W
Missense
SNP
0.502
2--
BEND7-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BFSP1-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BICC1-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICD2-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIN3-
-
-
-
3Gain-
BIRC7p.Q54*
Nonsense
SNP
0.577
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
3Gain-
BLNK-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S2-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMP2-
-
-
-
3Gain-
BMP7-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMPR1A-
-
-
-
3Gain-
BMS1-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
3Gain-
BNIP3-
-
-
-
3Gain-
BNIP3L-
-
-
-
3Gain-
BOD1L1p.E2153K
Missense
SNP
0.529
2--
BOD1L2-
-
-
-
3Gain-
BORCS5-
-
-
-
3Gain-
BORCS7-
-
-
-
3Gain-
BORCS7-ASMT-
-
-
-
3Gain-
BPGM-
-
-
-
3Gain-
BPIp.P13L
Missense
SNP
0.646
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4p.V74Qfs*160
p.R289W
Frame_Shift_Ins
Missense
INS
SNP
0.291
0.329
3Gain-
BPIFB6-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD3-
-
-
-
3Gain-
BRD4p.R444C
Missense
SNP
0.490
2--
BRF2-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRI3BP-
-
-
-
3Gain-
BRINP1-
-
-
-
3Gain-
BRPF1p.Q938Sfs*5
Frame_Shift_Del
DEL
0.511
2--
BSPRY-
-
-
-
3Gain-
BTAF1-
-
-
-
3Gain-
BTBD11-
-
-
-
3Gain-
BTBD16-
-
-
-
3Gain-
BTBD3-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTRC-
-
-
-
3Gain-
BUB3-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
3Gain-
C10orf53-
-
-
-
3Gain-
C10orf55-
-
-
-
3Gain-
C10orf62-
-
-
-
3Gain-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
3Gain-
C10orf82-
-
-
-
3Gain-
C10orf88-
-
-
-
3Gain-
C10orf90-
-
-
-
3Gain-
C10orf99-
-
-
-
3Gain-
C11orf54p.T309M
Missense
SNP
0.372
2--
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C17orf74p.P442Rfs*25
Frame_Shift_Del
DEL
0.482
NDND-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63p.M340Cfs*6
Frame_Shift_Del
DEL
0.258
3Gain-
C18orf8p.C394Hfs*4
Frame_Shift_Del
DEL
0.541
NDND-
C1Dp.N120Mfs*61
Frame_Shift_Del
DEL
0.500
2--
C1GALT1-
-
-
-
3Gain-
C1QBp.C31Y
Missense
SNP
0.470
2--
C1QL3p.R180H
Missense
SNP
0.624
3Gain-
C1QL4-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1Sp.W40R
Missense
SNP
0.566
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C21orf58p.T203M
Missense
SNP
0.302
2--
C2CD5-
-
-
-
3Gain-
C2orf91p.Q43*
Nonsense
SNP
0.612
2--
C3AR1-
-
-
-
3Gain-
C3orf30p.R196H
Missense
SNP
0.068
2--
C5-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf49p.G130Vfs*19
Frame_Shift_Del
DEL
0.132
NDND-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8G-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf116-
-
-
-
3Gain-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CABCOCO1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABP1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACFD1-
-
-
-
3Gain-
CACNA1B-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA1Ep.R1594H
Missense
SNP
0.462
2--
CACNA1Ip.P665L
Missense
SNP
0.514
2--
CACNA2D1-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB2p.T254M
p.R608H
Missense
Missense
SNP
SNP
0.309
0.582
3Gain-
CACNB3-
-
-
-
3Gain-
CACUL1-
-
-
-
3Gain-
CADp.R2064C
Missense
SNP
0.541
2--
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
3Gain-
CALCOCO1-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALCRLp.F16Lfs*2
Frame_Shift_Del
DEL
0.446
2--
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
3Gain-
CALHM2-
-
-
-
3Gain-
CALHM3-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK2Gp.E461G
Missense
SNP
0.333
3Gain-
CAMKK1p.R510*
Nonsense
SNP
0.532
2--
CAMKK2-
-
-
-
3Gain-
CAMSAP1-
-
-
-
3Gain-
CAMSAP2p.R1179W
Missense
SNP
0.516
2--
CAMTA2p.P889Lfs*9
p.P547L
Frame_Shift_Del
Missense
DEL
SNP
0.408
0.547
2--
CAND1-
-
-
-
3Gain-
CANXp.R274H
Missense
SNP
0.514
2--
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD14p.E929K
Missense
SNP
0.436
2--
CARD19-
-
-
-
3Gain-
CARD9-
-
-
-
3Gain-
CARNMT1-
-
-
-
3Gain-
CARSp.R453L
Missense
SNP
0.448
2--
CASC1p.I554M
Missense
SNP
0.385
3Gain-
CASC10-
-
-
-
3Gain-
CASD1p.C783Vfs*21
Frame_Shift_Del
DEL
0.607
3Gain-
CASP2-
-
-
-
3Gain-
CASP7-
-
-
-
3Gain-
CASS4p.R67H
Missense
SNP
0.580
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1p.T715M
Missense
SNP
0.519
2--
CATIPp.A255T
Missense
SNP
0.410
2--
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN4-
-
-
-
3Gain-
CBARPp.V706I
Missense
SNP
0.584
2--
CBFA2T2p.E402D
Missense
SNP
0.740
3Gain-
CBLL1p.K140Rfs*52
Frame_Shift_Del
DEL
0.403
3Gain-
CBLN2-
-
-
-
3Gain-
CBLN4-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CC2D2B-
-
-
-
3Gain-
CCAR1p.Q596*
Nonsense
SNP
0.623
3Gain-
CCAR2-
-
-
-
3Gain-
CCBE1p.V92I
Missense
SNP
0.298
3Gain-
CCDC102Bp.I270Nfs*31
Frame_Shift_Ins
INS
0.362
3Gain-
CCDC107-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC150p.S317Y
p.R971Q
Missense
Missense
SNP
SNP
0.500
0.593
2--
CCDC166-
-
-
-
3Gain-
CCDC168p.Q3471Tfs*12
p.N2569Kfs*26
Frame_Shift_Ins
Frame_Shift_Ins
INS
INS
0.333
0.257
2--
CCDC171-
-
-
-
3Gain-
CCDC172-
-
-
-
3Gain-
CCDC178-
-
-
-
3Gain-
CCDC180-
-
-
-
3Gain-
CCDC183-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC186-
-
-
-
3Gain-
CCDC191p.E82D
Missense
SNP
0.417
2--
CCDC25-
-
-
-
3Gain-
CCDC3-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC6-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC68-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC73p.E448Kfs*5
Frame_Shift_Del
DEL
0.484
2--
CCDC74B-
-
-
-
1Loss-
CCDC77-
-
-
-
3Gain-
CCDC83p.I184T
Missense
SNP
0.539
2--
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC96p.R524H
Missense
SNP
0.573
2--
CCER1-
-
-
-
3Gain-
CCER2p.E232del
In_Frame_Del
DEL
0.588
2--
CCIN-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
3Gain-
CCNA1p.S454Cfs*32
Frame_Shift_Ins
INS
0.267
2--
CCND2-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CCNJ-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCNY-
-
-
-
3Gain-
CCSER2-
-
-
-
3Gain-
CCT2p.R376C
Missense
SNP
0.628
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD163-
-
-
-
3Gain-
CD163L1p.P890L
Missense
SNP
0.282
3Gain-
CD19p.X120_splice
Splice_Site
DEL
0.286
2--
CD226-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD40-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD72-
-
-
-
3Gain-
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.513
2--
CD9-
-
-
-
3Gain-
CD93-
-
-
-
3Gain-
CDAp.G52W
Missense
SNP
0.573
2--
CDC123-
-
-
-
3Gain-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC25B-
-
-
-
3Gain-
CDC26-
-
-
-
3Gain-
CDC37L1-
-
-
-
3Gain-
CDC42EP4p.V144M
Missense
SNP
0.464
2--
CDCA2-
-
-
-
3Gain-
CDCA3-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDH17p.S645Lfs*3
Frame_Shift_Del
DEL
0.495
3Gain-
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH22-
-
-
-
3Gain-
CDH23-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH7p.R264Q
Missense
SNP
0.662
3Gain-
CDHR1-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDK1-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK19p.S62L
Missense
SNP
0.539
2--
CDK2-
-
-
-
3Gain-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK5RAP2-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDK9-
-
-
-
3Gain-
CDKN1B-
-
-
-
3Gain-
CDKN2A-
-
-
-
3Gain-
CDKN2Bp.L93Pfs*70
Frame_Shift_Ins
INS
0.281
3Gain-
CDNF-
-
-
-
3Gain-
CDS1p.F263Lfs*6
Frame_Shift_Del
DEL
0.472
2--
CDS2-
-
-
-
3Gain-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CEL-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CELF2-
-
-
-
3Gain-
CELF3p.V279I
Missense
SNP
0.407
2--
CELF4-
-
-
-
3Gain-
CELSR1p.T1849Rfs*8
Frame_Shift_Del
DEL
0.392
2--
CELSR2p.A1152V
Missense
SNP
0.491
2--
CELSR3p.R1336H
Missense
SNP
0.521
2--
CEMIP2-
-
-
-
3Gain-
CENPB-
-
-
-
3Gain-
CENPEp.D2662*
Frame_Shift_Ins
INS
0.325
2--
CENPP-
-
-
-
3Gain-
CEP192p.R763C
Missense
SNP
0.278
3Gain-
CEP250p.V728I
Missense
SNP
0.638
3Gain-
CEP290-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP55-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP85p.T746I
Missense
SNP
0.500
2--
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CETN1-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP43-
-
-
-
3Gain-
CFAP45p.R403H
Missense
SNP
0.468
2--
CFAP46-
-
-
-
3Gain-
CFAP53p.F148L
Missense
SNP
0.612
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP58-
-
-
-
3Gain-
CFAP61-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CFAP77-
-
-
-
3Gain-
CFTRp.G1047D
Missense
SNP
0.304
3Gain-
CH25H-
-
-
-
3Gain-
CH507-42P11.8p.R587Q
Missense
SNP
0.561
NDND-
CHAT-
-
-
-
3Gain-
CHCHD1-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7p.T1133M
Missense
SNP
0.329
3Gain-
CHD8p.R943C
Missense
SNP
0.435
2--
CHFR-
-
-
-
3Gain-
CHGB-
-
-
-
3Gain-
CHIAp.Q62*
Nonsense
SNP
0.503
2--
CHMP1B-
-
-
-
3Gain-
CHMP2Ap.C173G
Missense
SNP
0.566
2--
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHRNA2p.V352M
p.P143S
Missense
Missense
SNP
SNP
0.407
0.326
3Gain-
CHRNA4-
-
-
-
3Gain-
CHRNA6p.Y220C
Missense
SNP
0.338
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRNDp.R244H
Missense
SNP
0.436
2--
CHST11-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST15-
-
-
-
3Gain-
CHST3-
-
-
-
3Gain-
CHST5p.A150V
Missense
SNP
0.488
2--
CHST9-
-
-
-
3Gain-
CHUKp.C614Y
Missense
SNP
0.354
3Gain-
CIDEA-
-
-
-
3Gain-
CILP2p.R336*
Nonsense
SNP
0.409
2--
CISD1-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CIZ1-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN23-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN6p.A102T
Missense
SNP
0.500
2--
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC2L-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLIC3-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLIP4p.A238D
Missense
SNP
0.428
2--
CLK2p.R121W
Missense
SNP
0.453
2--
CLLU1OS-
-
-
-
3Gain-
CLMNp.K865Rfs*10
Frame_Shift_Del
DEL
0.422
2--
CLN8-
-
-
-
3Gain-
CLP1p.R302H
Missense
SNP
0.523
2--
CLRN3-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLTA-
-
-
-
3Gain-
CLTCp.I780del
In_Frame_Del
DEL
0.417
2--
CLU-
-
-
-
3Gain-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNGB3-
-
-
-
3Gain-
CNNM1-
-
-
-
3Gain-
CNNM2-
-
-
-
3Gain-
CNOT1p.R1929*
Nonsense
SNP
0.512
2--
CNOT10p.X754_splice
Splice_Site
SNP
0.490
2--
CNOT2-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT7-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG2p.K127Rfs*5
Frame_Shift_Del
DEL
0.492
2--
COG3p.V465I
Missense
SNP
0.519
2--
COG5-
-
-
-
3Gain-
COL11A1p.V1658I
Missense
SNP
0.524
2--
COL13A1-
-
-
-
3Gain-
COL14A1-
-
-
-
3Gain-
COL15A1-
-
-
-
3Gain-
COL17A1p.R177Q
Missense
SNP
0.392
3Gain-
COL18A1p.P772Qfs*16
Frame_Shift_Del
DEL
0.453
2--
COL1A2-
-
-
-
3Gain-
COL20A1-
-
-
-
3Gain-
COL21A1p.G632Rfs*24
Frame_Shift_Ins
INS
0.295
2--
COL22A1p.P727L
Missense
SNP
0.364
3Gain-
COL26A1-
-
-
-
3Gain-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
3Gain-
COL3A1p.K275Rfs*9
Frame_Shift_Del
DEL
0.356
2--
COL4A5p.P812H
Missense
SNP
0.454
NDND-
COL5A1-
-
-
-
3Gain-
COL6A2p.R734C
Missense
SNP
0.520
2--
COL6A6p.E1487G
Missense
SNP
0.560
2--
COL8A2p.P94Lfs*143
Frame_Shift_Del
DEL
0.520
2--
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLEC12p.G581Afs*65
Frame_Shift_Del
DEL
0.289
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMPp.P416L
Missense
SNP
0.488
2--
COMTD1-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ4-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ6p.P373L
Missense
SNP
0.490
2--
CORO1Bp.R476C
Missense
SNP
0.564
2--
CORO1C-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
CORO7p.S433I
Missense
SNP
0.419
2--
COX14-
-
-
-
3Gain-
COX15-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX4I2-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6p.L310I
Missense
SNP
0.632
3Gain-
CPAMD8p.V1068Wfs*111
Frame_Shift_Del
DEL
0.506
2--
CPEB3-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLX4-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPN1-
-
-
-
3Gain-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE8p.V396Sfs*9
Frame_Shift_Del
DEL
0.292
3Gain-
CPQ-
-
-
-
3Gain-
CPS1p.K133N
Missense
SNP
0.552
2--
CPSF1-
-
-
-
3Gain-
CPSF3p.E31K
Missense
SNP
0.571
2--
CPSF4p.R238W
Missense
SNP
0.615
3Gain-
CPSF6p.V156Cfs*6
Frame_Shift_Ins
INS
0.253
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CPXM2-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CRAMP1p.R344H
Missense
SNP
0.593
2--
CRAT-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.G101V
Missense
SNP
0.546
2--
CREBL2-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRH-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRTAC1-
-
-
-
3Gain-
CRTC1p.S588Afs*6
Frame_Shift_Del
DEL
0.505
2--
CRY1-
-
-
-
3Gain-
CRY2p.R362H
Missense
SNP
0.538
2--
CRYGN-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSE1L-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
3Gain-
CSMD1-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CSNK1Ep.T235M
Missense
SNP
0.503
2--
CSNK2A1-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRNP1p.G476D
Missense
SNP
0.533
2--
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2p.R46H
Missense
SNP
0.645
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTAGE15-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTBP2p.A602T
Missense
SNP
0.394
3Gain-
CTCFL-
-
-
-
3Gain-
CTDP1-
-
-
-
3Gain-
CTDSP2-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTNNA3-
-
-
-
3Gain-
CTNNAL1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
3Gain-
CTNND2p.P524L
Missense
SNP
0.510
2--
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
3Gain-
CTSFp.V474M
Missense
SNP
0.462
2--
CTSL-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CUBN-
-
-
-
3Gain-
CUEDC2-
-
-
-
3Gain-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
3Gain-
CUL3p.R128H
Missense
SNP
0.722
2--
CUTC-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CUZD1-
-
-
-
3Gain-
CWC27p.V335*
Frame_Shift_Del
DEL
0.414
2--
CWF19L1-
-
-
-
3Gain-
CXCL12-
-
-
-
3Gain-
CXorf56p.A62V
Missense
SNP
0.489
NDND-
CXXC1-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYLC2-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP17A1-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
3Gain-
CYP26C1-
-
-
-
3Gain-
CYP27B1-
-
-
-
3Gain-
CYP2C18-
-
-
-
3Gain-
CYP2C19-
-
-
-
3Gain-
CYP2C8-
-
-
-
3Gain-
CYP2C9-
-
-
-
3Gain-
CYP2E1-
-
-
-
3Gain-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSRT1-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DBF4p.L409Afs*14
Frame_Shift_Ins
INS
0.380
3Gain-
DBH-
-
-
-
3Gain-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBX2p.P62Q
Missense
SNP
0.053
3Gain-
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCC-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCDC1p.S693L
Missense
SNP
0.525
2--
DCHS1p.R2892Q
Missense
SNP
0.643
2--
DCHS2p.S968R
Missense
SNP
0.446
2--
DCLRE1A-
-
-
-
3Gain-
DCLRE1C-
-
-
-
3Gain-
DCNp.T151Nfs*9
Frame_Shift_Ins
INS
0.240
3Gain-
DCP1B-
-
-
-
3Gain-
DCPSp.A282T
Missense
SNP
0.383
2--
DCSTAMP-
-
-
-
3Gain-
DCTN2-
-
-
-
3Gain-
DCTN3-
-
-
-
3Gain-
DCTN6-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDHD2-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDIT4-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX17p.R439H
Missense
SNP
0.463
2--
DDX21-
-
-
-
3Gain-
DDX23-
-
-
-
3Gain-
DDX27-
-
-
-
3Gain-
DDX31-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX50-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX52p.E518A
Missense
SNP
0.459
2--
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DDX59p.N577Ifs*6
Frame_Shift_Del
DEL
0.465
2--
DDX60Lp.Y1625H
Missense
SNP
0.533
2--
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DEFA4-
-
-
-
3Gain-
DEFA5-
-
-
-
3Gain-
DEFA6-
-
-
-
3Gain-
DEFB1-
-
-
-
3Gain-
DEFB103A-
-
-
-
3Gain-
DEFB103B-
-
-
-
3Gain-
DEFB104A-
-
-
-
3Gain-
DEFB104B-
-
-
-
3Gain-
DEFB105A-
-
-
-
3Gain-
DEFB105B-
-
-
-
3Gain-
DEFB106A-
-
-
-
3Gain-
DEFB106B-
-
-
-
3Gain-
DEFB107A-
-
-
-
3Gain-
DEFB107B-
-
-
-
3Gain-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DENND1A-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DEPP1-
-
-
-
3Gain-
DEPTOR-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKHp.R273H
Missense
SNP
0.495
2--
DGKIp.R791H
Missense
SNP
0.679
3Gain-
DHH-
-
-
-
3Gain-
DHRS12p.H120Y
Missense
SNP
0.351
2--
DHRS7Cp.R264H
Missense
SNP
0.556
2--
DHTKD1-
-
-
-
3Gain-
DHX32-
-
-
-
3Gain-
DHX35-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIDO1-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DIRAS2-
-
-
-
3Gain-
DKK1-
-
-
-
3Gain-
DKK4-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLG5-
-
-
-
3Gain-
DLGAP1-
-
-
-
3Gain-
DLGAP2p.P109L
Missense
SNP
0.635
3Gain-
DLGAP4-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
3Gain-
DMBT1-
-
-
-
3Gain-
DMDp.N3378Tfs*24
Frame_Shift_Del
DEL
0.444
NDND-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
3Gain-
DNA2-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH10-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH12p.F2251Lfs*15
Frame_Shift_Del
DEL
0.385
2--
DNAH5p.A244T
Missense
SNP
0.419
2--
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJB12-
-
-
-
3Gain-
DNAJB5-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC1p.A455T
Missense
SNP
0.342
3Gain-
DNAJC10p.R276*
Nonsense
SNP
0.473
2--
DNAJC11p.R273*
Nonsense
SNP
0.510
2--
DNAJC12-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC9-
-
-
-
3Gain-
DNLZ-
-
-
-
3Gain-
DNM1-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DNMBP-
-
-
-
3Gain-
DNMT3Bp.R538H
Missense
SNP
0.642
3Gain-
DNTT-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DOC2Ap.K312del
In_Frame_Del
DEL
0.410
2--
DOCK1-
-
-
-
3Gain-
DOCK11p.Y2012*
Nonsense
SNP
0.595
NDND-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
3Gain-
DOCK7p.P526L
Missense
SNP
0.448
2--
DOCK8-
-
-
-
3Gain-
DOK1p.V157A
p.V175M
Missense
Missense
SNP
SNP
0.541
0.556
2--
DOK2-
-
-
-
3Gain-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
3Gain-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DONSONp.R27Q
Missense
SNP
0.581
2--
DPCD-
-
-
-
3Gain-
DPH7-
-
-
-
3Gain-
DPM1-
-
-
-
3Gain-
DPM2-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPP7-
-
-
-
3Gain-
DPPA3-
-
-
-
3Gain-
DPRXp.V95Sfs*7
Frame_Shift_Del
DEL
0.455
2--
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2p.F20Lfs*104
p.R481H
Frame_Shift_Del
Missense
DEL
SNP
0.383
0.332
3Gain-
DPYSL4-
-
-
-
3Gain-
DRAM1-
-
-
-
3Gain-
DRGX-
-
-
-
3Gain-
DROSHAp.R254H
Missense
SNP
0.429
2--
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSN1-
-
-
-
3Gain-
DSPp.R866C
p.R1915C
Missense
Missense
SNP
SNP
0.402
0.420
2--
DSTN-
-
-
-
3Gain-
DSTYKp.L732del
In_Frame_Del
DEL
0.326
2--
DTD1-
-
-
-
3Gain-
DTNAp.A498Qfs*40
Frame_Shift_Del
DEL
0.654
3Gain-
DTX1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.409
2--
DUPD1-
-
-
-
3Gain-
DUS3Lp.V440I
Missense
SNP
0.700
2--
DUS4L-
-
-
-
3Gain-
DUSP13-
-
-
-
3Gain-
DUSP15-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP4-
-
-
-
3Gain-
DUSP5-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DYDC1-
-
-
-
3Gain-
DYDC2-
-
-
-
3Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1H1p.R2831H
Missense
SNP
0.512
2--
DYNC1I1-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYNLRB1-
-
-
-
3Gain-
DYRK1Ap.X317_splice
Splice_Site
DEL
0.508
2--
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
DYSFp.E1039Gfs*11
Frame_Shift_Ins
INS
0.283
2--
DZANK1-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
3Gain-
EBF3-
-
-
-
3Gain-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
ECD-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
3Gain-
ECI1p.T268M
Missense
SNP
0.566
2--
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
EDEM2-
-
-
-
3Gain-
EDF1-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDRF1p.N302Mfs*47
Frame_Shift_Del
DEL
0.602
3Gain-
EEA1-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB8-
-
-
-
3Gain-
EFHC2p.E202D
Missense
SNP
0.548
NDND-
EFNB3p.Q331Rfs*39
Frame_Shift_Del
DEL
0.306
2--
EFR3A-
-
-
-
3Gain-
EGFL7-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGR2-
-
-
-
3Gain-
EGR3-
-
-
-
3Gain-
EHBP1L1p.R50H
Missense
SNP
0.587
2--
EHMT1-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2S2-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF3A-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5AL1-
-
-
-
3Gain-
EIF6-
-
-
-
3Gain-
ELAC1-
-
-
-
3Gain-
ELAVL2p.A333V
Missense
SNP
0.367
3Gain-
ELF4p.Q341Rfs*30
Frame_Shift_Del
DEL
0.521
NDND-
ELFN1-
-
-
-
3Gain-
ELK3-
-
-
-
3Gain-
ELMO1p.G674R
Missense
SNP
0.603
3Gain-
ELMO2-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOA2-
-
-
-
3Gain-
ELOA3-
-
-
-
3Gain-
ELOA3B-
-
-
-
3Gain-
ELOA3D-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOVL3-
-
-
-
3Gain-
ELOVL7p.R115C
Missense
SNP
0.436
2--
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
3Gain-
ELP3-
-
-
-
3Gain-
EMC2p.K213E
Missense
SNP
0.515
3Gain-
EMG1-
-
-
-
3Gain-
EMILIN2-
-
-
-
3Gain-
EMILIN3p.L297M
Missense
SNP
0.551
3Gain-
EML6p.A1888T
Missense
SNP
0.407
2--
EMP1-
-
-
-
3Gain-
EMX2-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENDOG-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENO4p.R551C
Missense
SNP
0.333
3Gain-
ENOSF1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENPP6p.R35H
Missense
SNP
0.477
2--
ENTPD1-
-
-
-
3Gain-
ENTPD2-
-
-
-
3Gain-
ENTPD4-
-
-
-
3Gain-
ENTPD6p.G444S
Missense
SNP
0.660
3Gain-
ENTPD7-
-
-
-
3Gain-
ENTPD8-
-
-
-
3Gain-
ENTR1-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB41L3-
-
-
-
3Gain-
EPB41L4B-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA2p.T526M
Missense
SNP
0.556
2--
EPHB2p.K1020Rfs*63
Frame_Shift_Del
DEL
0.421
2--
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPPINp.Y107C
Missense
SNP
0.270
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS8-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERBINp.D727Ifs*9
p.I883Sfs*28
p.K988Rfs*24
Frame_Shift_Del
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
DEL
0.521
0.404
0.386
2--
ERC1-
-
-
-
3Gain-
ERCC6-
-
-
-
3Gain-
ERCC6L2-
-
-
-
3Gain-
ERCC8p.A7T
Missense
SNP
0.487
2--
ERGIC2-
-
-
-
3Gain-
ERGIC3-
-
-
-
3Gain-
ERI1-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH3p.N557I
Missense
SNP
0.436
2--
ERICH5-
-
-
-
3Gain-
ERLIN1-
-
-
-
3Gain-
ERLIN2-
-
-
-
3Gain-
ERMP1-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESPL1p.A35V
Missense
SNP
0.321
3Gain-
ESRP1-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.323
3Gain-
ETV6-
-
-
-
3Gain-
EVC2p.T699M
Missense
SNP
0.538
2--
EVI2Ap.A150V
Missense
SNP
0.416
2--
EVX1-
-
-
-
3Gain-
EXD3-
-
-
-
3Gain-
EXOC4-
-
-
-
3Gain-
EXOC6-
-
-
-
3Gain-
EXOSC1-
-
-
-
3Gain-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EXTL1p.R31H
Missense
SNP
0.482
2--
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EZH1p.A379V
Missense
SNP
0.578
2--
EZH2-
-
-
-
3Gain-
F13A1p.P565L
Missense
SNP
0.469
2--
FAAP100p.L21Pfs*12
Frame_Shift_Ins
INS
0.295
2--
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAHD2Ap.P281Qfs*26
Frame_Shift_Del
DEL
0.376
2--
FAIM2-
-
-
-
3Gain-
FAM102A-
-
-
-
3Gain-
FAM107B-
-
-
-
3Gain-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM111Bp.R94H
Missense
SNP
0.476
2--
FAM118Bp.L217F
Missense
SNP
0.468
2--
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129Ap.X392_splice
Splice_Site
SNP
0.504
2--
FAM129B-
-
-
-
3Gain-
FAM129Cp.P643L
Missense
SNP
0.597
2--
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135Ap.S1485L
Missense
SNP
0.553
2--
FAM135Bp.K1101N
Missense
SNP
0.595
3Gain-
FAM13C-
-
-
-
3Gain-
FAM149B1-
-
-
-
3Gain-
FAM160B1-
-
-
-
3Gain-
FAM160B2-
-
-
-
3Gain-
FAM163B-
-
-
-
3Gain-
FAM166Ap.L210R
Missense
SNP
0.304
3Gain-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM170B-
-
-
-
3Gain-
FAM171A1-
-
-
-
3Gain-
FAM173Ap.R73*
Nonsense
SNP
0.604
2--
FAM175Ap.N303Ifs*17
Frame_Shift_Del
DEL
0.571
NDND-
FAM180A-
-
-
-
3Gain-
FAM186A-
-
-
-
3Gain-
FAM186Bp.E667K
Missense
SNP
0.723
3Gain-
FAM189A2-
-
-
-
3Gain-
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.396
2--
FAM198Bp.A253T
Missense
SNP
0.487
2--
FAM19A2-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM204A-
-
-
-
3Gain-
FAM205Ap.P463S
Missense
SNP
0.407
3Gain-
FAM205C-
-
-
-
3Gain-
FAM206A-
-
-
-
3Gain-
FAM208Ap.E912G
Missense
SNP
0.500
2--
FAM208B-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM213Ap.N73Mfs*4
Frame_Shift_Del
DEL
0.062
NDND-
FAM214B-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM241B-
-
-
-
3Gain-
FAM24A-
-
-
-
3Gain-
FAM24B-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM45A-
-
-
-
3Gain-
FAM46Bp.R288W
Missense
SNP
0.508
NDND-
FAM47Bp.A360T
Missense
SNP
0.538
NDND-
FAM49B-
-
-
-
3Gain-
FAM53B-
-
-
-
3Gain-
FAM69B-
-
-
-
3Gain-
FAM69C-
-
-
-
3Gain-
FAM71C-
-
-
-
3Gain-
FAM71E2p.P40L
Missense
SNP
0.533
2--
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM78A-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM95C-
-
-
-
3Gain-
FANCC-
-
-
-
3Gain-
FANCG-
-
-
-
3Gain-
FANK1-
-
-
-
3Gain-
FAR2-
-
-
-
3Gain-
FAS-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT1p.D2158Rfs*20
Frame_Shift_Ins
INS
0.319
2--
FAT2p.G994R
Missense
SNP
0.436
2--
FBH1-
-
-
-
3Gain-
FBLN1p.G151R
Missense
SNP
0.562
2--
FBLN2p.R1180C
Missense
SNP
0.480
2--
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.500
2--
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL13-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL15-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL19p.L381Yfs*86
Frame_Shift_Del
DEL
0.521
2--
FBXL6-
-
-
-
3Gain-
FBXO10-
-
-
-
3Gain-
FBXO15-
-
-
-
3Gain-
FBXO16-
-
-
-
3Gain-
FBXO21-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXW2-
-
-
-
3Gain-
FBXW4-
-
-
-
3Gain-
FBXW5-
-
-
-
3Gain-
FBXW8-
-
-
-
3Gain-
FCN1-
-
-
-
3Gain-
FCN2-
-
-
-
3Gain-
FDFT1-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FER1L6p.I975T
Missense
SNP
0.633
3Gain-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FFAR4-
-
-
-
3Gain-
FGD3-
-
-
-
3Gain-
FGD4p.Q793Rfs*31
p.R431H
Frame_Shift_Del
Missense
DEL
SNP
0.552
0.705
3Gain-
FGD6-
-
-
-
3Gain-
FGF17-
-
-
-
3Gain-
FGF20-
-
-
-
3Gain-
FGF23-
-
-
-
3Gain-
FGF5p.G148Efs*45
Frame_Shift_Del
DEL
0.480
2--
FGF6p.V127M
Missense
SNP
0.667
3Gain-
FGF8-
-
-
-
3Gain-
FGFBP3-
-
-
-
3Gain-
FGFR1-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FGFR2-
-
-
-
3Gain-
FGL1-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FHAD1p.S26T
Missense
SNP
0.461
2--
FHOD1p.P585Lfs*43
Frame_Shift_Del
DEL
0.320
2--
FHOD3-
-
-
-
3Gain-
FIBCD1-
-
-
-
3Gain-
FICD-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FITM2-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKTN-
-
-
-
3Gain-
FLI1p.M348L
Missense
SNP
0.494
2--
FLNAp.A1188V
p.A1160T
Missense
Missense
SNP
SNP
0.530
0.483
NDND-
FLNC-
-
-
-
3Gain-
FLOT2p.A400V
Missense
SNP
0.505
2--
FLRT3-
-
-
-
3Gain-
FLT4p.P619Lfs*20
p.P30L
Frame_Shift_Del
Missense
DEL
SNP
0.461
0.504
2--
FMC1-
-
-
-
3Gain-
FMNL3-
-
-
-
3Gain-
FNBP1-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNTA-
-
-
-
3Gain-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
3Gain-
FOCAD-
-
-
-
3Gain-
FOXA1p.A442T
Missense
SNP
0.485
2--
FOXA2-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXI1p.R143C
Missense
SNP
0.466
2--
FOXI2p.A77T
Missense
SNP
0.306
3Gain-
FOXJ2-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.373
3Gain-
FOXN4-
-
-
-
3Gain-
FOXP1p.L414*
Frame_Shift_Del
DEL
0.592
2--
FOXP2-
-
-
-
3Gain-
FOXS1-
-
-
-
3Gain-
FPGS-
-
-
-
3Gain-
FRA10AC1p.R232Efs*96
Frame_Shift_Del
DEL
0.179
3Gain-
FRAT1-
-
-
-
3Gain-
FRAT2-
-
-
-
3Gain-
FREM1p.R507H
Missense
SNP
0.250
3Gain-
FRG2B-
-
-
-
3Gain-
FRMD3-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMPD1-
-
-
-
3Gain-
FRMPD2-
-
-
-
3Gain-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD1L-
-
-
-
3Gain-
FSIP2p.V5823Yfs*24
Frame_Shift_Del
DEL
0.478
2--
FUBP3-
-
-
-
3Gain-
FUOM-
-
-
-
3Gain-
FUT10-
-
-
-
3Gain-
FUT11p.L293P
Missense
SNP
0.681
3Gain-
FUT5p.R14C
Missense
SNP
0.450
2--
FUT7-
-
-
-
3Gain-
FXN-
-
-
-
3Gain-
FXYD4-
-
-
-
3Gain-
FYBp.G18Afs*76
Frame_Shift_Del
DEL
0.078
NDND-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
3Gain-
FZD3-
-
-
-
3Gain-
FZD5p.L241M
Missense
SNP
0.554
2--
FZD6-
-
-
-
3Gain-
FZD8-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
G6PC2p.R79Q
Missense
SNP
0.556
2--
GABARAPL1-
-
-
-
3Gain-
GABBR2-
-
-
-
3Gain-
GABRA6p.V81I
Missense
SNP
0.381
2--
GABRB3p.L170Pfs*11
p.T135A
Frame_Shift_Ins
Missense
INS
SNP
0.335
0.472
2--
GAD2-
-
-
-
3Gain-
GADD45G-
-
-
-
3Gain-
GADD45GIP1p.R174H
Missense
SNP
0.481
2--
GAL3ST4-
-
-
-
3Gain-
GALNT1-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT12-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALR1-
-
-
-
3Gain-
GALT-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GAPTp.P101L
Missense
SNP
0.459
2--
GAPVD1-
-
-
-
3Gain-
GAREM1-
-
-
-
3Gain-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS1-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBF1-
-
-
-
3Gain-
GBGT1p.R243H
Missense
SNP
0.657
3Gain-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GCNT1-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GDA-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP1L1p.E199K
Missense
SNP
0.740
3Gain-
GDF10-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDF2-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF5p.R325C
Missense
SNP
0.329
3Gain-
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
3Gain-
GEMp.R56Q
Missense
SNP
0.619
3Gain-
GEMIN2p.K146Nfs*24
Frame_Shift_Del
DEL
0.500
2--
GET4-
-
-
-
3Gain-
GFI1B-
-
-
-
3Gain-
GFRA1-
-
-
-
3Gain-
GFRA2-
-
-
-
3Gain-
GFRA4-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNp.A115V
Missense
SNP
0.414
2--
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GHITM-
-
-
-
3Gain-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8p.R81H
Missense
SNP
0.322
3Gain-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD4-
-
-
-
3Gain-
GKAP1-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS3-
-
-
-
3Gain-
GLOD4p.R50Q
Missense
SNP
0.556
2--
GLRX3-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT6D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLTSCR1p.E1438K
Missense
SNP
0.611
NDND-
GLUD1-
-
-
-
3Gain-
GLYCTKp.A481T
Missense
SNP
0.500
2--
GLYR1p.R381Afs*15
Frame_Shift_Ins
INS
0.287
2--
GM2Ap.R169H
Missense
SNP
0.479
2--
GMEB1p.A499V
Missense
SNP
0.409
2--
GMEB2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAL-
-
-
-
3Gain-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB1Lp.V108M
Missense
SNP
0.444
2--
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNMTp.D272N
Missense
SNP
0.528
2--
GNPTAB-
-
-
-
3Gain-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4p.E727D
Missense
SNP
0.439
2--
GOLGA7-
-
-
-
3Gain-
GOLGA7B-
-
-
-
3Gain-
GOLM1-
-
-
-
3Gain-
GOLPH3p.T148M
Missense
SNP
0.495
2--
GOLT1B-
-
-
-
3Gain-
GOT1-
-
-
-
3Gain-
GOT1L1-
-
-
-
3Gain-
GPAA1p.X389_splice
Splice_Site
SNP
0.287
3Gain-
GPAM-
-
-
-
3Gain-
GPAT4-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR148p.L174R
Missense
SNP
0.473
2--
GPR158-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR26-
-
-
-
3Gain-
GPR34p.S62Cfs*23
Frame_Shift_Del
DEL
0.398
NDND-
GPR37-
-
-
-
3Gain-
GPR75p.P240Lfs*2
Frame_Shift_Del
DEL
0.378
2--
GPR84-
-
-
-
3Gain-
GPR85p.A311V
Missense
SNP
0.291
3Gain-
GPRASP2p.T88M
Missense
SNP
0.440
NDND-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPRIN2-
-
-
-
3Gain-
GPRIN3p.I138L
Missense
SNP
0.545
2--
GPSM1-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB10p.A166T
Missense
SNP
0.621
3Gain-
GREB1L-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
3Gain-
GRID1-
-
-
-
3Gain-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2p.N849Tfs*14
Frame_Shift_Del
DEL
0.487
2--
GRIN1-
-
-
-
3Gain-
GRIN2Ap.A388T
Missense
SNP
0.536
2--
GRIN2Bp.R1329*
Nonsense
SNP
0.345
3Gain-
GRIN3A-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRK5-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM5p.R844C
Missense
SNP
0.526
2--
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
3Gain-
GSK3Ap.V133M
Missense
SNP
0.538
2--
GSN-
-
-
-
3Gain-
GSR-
-
-
-
3Gain-
GSS-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTO1-
-
-
-
3Gain-
GSTO2-
-
-
-
3Gain-
GTF2E2-
-
-
-
3Gain-
GTF2H3-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
GTPBP10p.N309Kfs*37
Frame_Shift_Ins
INS
0.247
3Gain-
GTPBP4-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCY1B3p.L472I
Missense
SNP
0.475
NDND-
GUCY2C-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFY2-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HABP2-
-
-
-
3Gain-
HABP4-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HACD4-
-
-
-
3Gain-
HADHBp.K474N
Missense
SNP
0.420
2--
HAL-
-
-
-
3Gain-
HAO1-
-
-
-
3Gain-
HAS1p.R129H
Missense
SNP
0.495
2--
HAS2-
-
-
-
3Gain-
HAUS1-
-
-
-
3Gain-
HAUS6-
-
-
-
3Gain-
HBE1p.A139V
Missense
SNP
0.493
2--
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCK-
-
-
-
3Gain-
HCN3p.R502H
Missense
SNP
0.456
2--
HDAC5p.I933Lfs*14
Frame_Shift_Del
DEL
0.521
2--
HDAC7-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDGFp.S218Lfs*?
Frame_Shift_Del
DEL
0.432
2--
HDHD2-
-
-
-
3Gain-
HDHD3p.Q92H
Missense
SNP
0.623
3Gain-
HEATR6p.Q693H
Missense
SNP
0.650
2--
HEBP1-
-
-
-
3Gain-
HECTD1p.I2041Lfs*27
Frame_Shift_Del
DEL
0.341
2--
HECTD2-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HEG1p.A1267T
Missense
SNP
0.542
2--
HELB-
-
-
-
3Gain-
HELLSp.N154Ifs*29
Frame_Shift_Del
DEL
0.400
3Gain-
HELZp.A149T
Missense
SNP
0.503
2--
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERC2p.L1089P
Missense
SNP
0.503
2--
HERC4-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HFEp.L122M
Missense
SNP
0.490
2--
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
3Gain-
HHEX-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC2p.T549M
Missense
SNP
0.463
2--
HID1p.A312T
Missense
SNP
0.464
2--
HIF1AN-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINT2-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
2-AC010197.2--HIST1H2BD
HIST1H4Cp.T72I
Missense
SNP
0.489
2--
HIST4H4-
-
-
-
3Gain-
HK1p.T605M
Missense
SNP
0.369
3Gain-
HKDC1-
-
-
-
3Gain-
HLA-Fp.A203T
Missense
SNP
0.520
2--
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
3Gain-
HMCN2-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HMMRp.K667Nfs*11
Frame_Shift_Del
DEL
0.576
2--
HMSD-
-
-
-
3Gain-
HMX2-
-
-
-
3Gain-
HMX3-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPA1-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPF-
-
-
-
3Gain-
HNRNPH3-
-
-
-
3Gain-
HNRNPKp.R268W
Missense
SNP
0.685
3Gain-
HOGA1p.R95H
Missense
SNP
0.397
3Gain-
HOOK3-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3p.Q302Pfs*42
Frame_Shift_Ins
INS
0.407
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPCAp.R118Q
Missense
SNP
0.486
2--
HPD-
-
-
-
3Gain-
HPS1-
-
-
-
3Gain-
HPS6-
-
-
-
3Gain-
HPSE2-
-
-
-
3Gain-
HR-
-
-
-
3Gain-
HRCT1-
-
-
-
3Gain-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HS6ST2p.R94C
Missense
SNP
0.450
NDND-
HSBP1L1-
-
-
-
3Gain-
HSD17B3-
-
-
-
3Gain-
HSD17B6-
-
-
-
3Gain-
HSDL2-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSP90B1-
-
-
-
3Gain-
HSPA12A-
-
-
-
3Gain-
HSPA12B-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HSPA5-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HTR1Ap.V80I
Missense
SNP
0.515
2--
HTR1Bp.A226T
Missense
SNP
0.480
2--
HTR3Ap.S178L
Missense
SNP
0.525
2--
HTR5A-
-
-
-
3Gain-
HTR7-
-
-
-
3Gain-
HTRA1-
-
-
-
3Gain-
HTRA4-
-
-
-
3Gain-
HTTp.R416H
Missense
SNP
0.400
2--
HUNKp.E596K
Missense
SNP
0.493
2--
HUS1-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IARS-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICAM5p.R434H
Missense
SNP
0.474
2--
ID1-
-
-
-
3Gain-
IDE-
-
-
-
3Gain-
IDH1p.R132H
Missense
SNP
0.414
2--
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFIT1-
-
-
-
3Gain-
IFIT1B-
-
-
-
3Gain-
IFIT2p.I418Lfs*25
Frame_Shift_Del
DEL
0.604
3Gain-
IFIT3-
-
-
-
3Gain-
IFIT5-
-
-
-
3Gain-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNGR1p.K299Nfs*18
Frame_Shift_Del
DEL
0.426
2--
IFNK-
-
-
-
3Gain-
IFNL2p.F137L
p.R152W
Missense
Missense
SNP
SNP
0.079
0.405
2--
IFNW1-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF2BP1p.G541R
Missense
SNP
0.521
2--
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IGFBPL1-
-
-
-
3Gain-
IKBIP-
-
-
-
3Gain-
IKBKB-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IKZF5-
-
-
-
3Gain-
IL11RA-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL17RCp.W167R
Missense
SNP
0.333
2--
IL17RDp.A453V
Missense
SNP
0.552
2--
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL31RAp.G534Efs*7
Frame_Shift_Del
DEL
0.481
2--
IL33-
-
-
-
3Gain-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILKAPp.S202Qfs*52
Frame_Shift_Del
DEL
0.479
2--
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
INA-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INIP-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INPP5A-
-
-
-
3Gain-
INPP5E-
-
-
-
3Gain-
INPP5F-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSM2p.H309N
Missense
SNP
0.421
2--
INSYN2-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
INTS5p.S1010del
In_Frame_Del
DEL
0.500
2--
INTS6Lp.R305Q
Missense
SNP
0.432
NDND-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
3Gain-
INVSp.N1061Kfs*20
Frame_Shift_Ins
INS
0.399
3Gain-
IPMK-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRGCp.V89I
Missense
SNP
0.480
2--
IRS1p.R998Vfs*13
Frame_Shift_Del
DEL
0.467
2--
ISCA1-
-
-
-
3Gain-
ISCU-
-
-
-
3Gain-
ISL2p.G173E
Missense
SNP
0.600
2--
ISM1p.A412V
Missense
SNP
0.262
3Gain-
ISPD-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA11p.N1031S
Missense
SNP
0.556
2--
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8-
-
-
-
3Gain-
ITGB1-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITPRIP-
-
-
-
3Gain-
IZUMO3-
-
-
-
3Gain-
JAG1-
-
-
-
3Gain-
JAK1p.R997W
p.R108Q
Missense
Missense
SNP
SNP
0.484
0.491
2--
JAK2-
-
-
-
3Gain-
JAKMIP3-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
3Gain-
JMJD1C-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH2p.A595V
Missense
SNP
0.633
3Gain-
JRK-
-
-
-
3Gain-
JUPp.T201I
Missense
SNP
0.573
2--
KANK1-
-
-
-
3Gain-
KANK3p.D792N
Missense
SNP
0.472
2--
KANSL2-
-
-
-
3Gain-
KAT14-
-
-
-
3Gain-
KAT6A-
-
-
-
3Gain-
KAT6B-
-
-
-
3Gain-
KATNAL2-
-
-
-
3Gain-
KAZALD1-
-
-
-
3Gain-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD13p.T162M
Missense
SNP
0.582
2--
KBTBD2-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.468
2--
KCNC2-
-
-
-
3Gain-
KCNC4p.R413W
Missense
SNP
0.377
2--
KCND2-
-
-
-
3Gain-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
3Gain-
KCNH2p.W497*
p.R472H
Nonsense
Missense
SNP
SNP
0.624
0.664
3Gain-
KCNH3-
-
-
-
3Gain-
KCNH5p.V58I
Missense
SNP
0.399
2--
KCNIP2-
-
-
-
3Gain-
KCNJ4p.P433L
Missense
SNP
0.548
2--
KCNJ8-
-
-
-
3Gain-
KCNK13p.V391Wfs*7
Frame_Shift_Del
DEL
0.359
2--
KCNK15-
-
-
-
3Gain-
KCNK18-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMA1-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT1-
-
-
-
3Gain-
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD10p.R308Q
Missense
SNP
0.486
3Gain-
KCTD18p.S301R
Missense
SNP
0.557
2--
KCTD7-
-
-
-
3Gain-
KCTD8p.L209R
Missense
SNP
0.521
2--
KCTD9-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM4Cp.Y1011Mfs*16
Frame_Shift_Del
DEL
0.353
3Gain-
KDM5Ap.R674Q
Missense
SNP
0.336
3Gain-
KDM7A-
-
-
-
3Gain-
KDSR-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0895-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1161p.R673H
Missense
SNP
0.650
NDND-
KIAA1217p.R976Gfs*16
p.A233T
p.T1868A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.609
0.306
0.596
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1522p.A247T
Missense
SNP
0.490
2--
KIAA1549p.L283*
Frame_Shift_Del
DEL
0.298
3Gain-
KIAA1551-
-
-
-
3Gain-
KIAA1614p.P50Qfs*15
Frame_Shift_Del
DEL
0.421
2--
KIAA1755-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIAA2026-
-
-
-
3Gain-
KIF11-
-
-
-
3Gain-
KIF12-
-
-
-
3Gain-
KIF13Ap.A364T
Missense
SNP
0.557
2--
KIF13B-
-
-
-
3Gain-
KIF16B-
-
-
-
3Gain-
KIF1BP-
-
-
-
3Gain-
KIF20B-
-
-
-
3Gain-
KIF21A-
-
-
-
3Gain-
KIF21Bp.V33I
Missense
SNP
0.542
2--
KIF24-
-
-
-
3Gain-
KIF27p.A1067V
Missense
SNP
0.638
3Gain-
KIF3B-
-
-
-
3Gain-
KIF5A-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KITLG-
-
-
-
3Gain-
KIZ-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF4-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLF9-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHL1p.G35Efs*31
Frame_Shift_Del
DEL
0.384
2--
KLHL14-
-
-
-
3Gain-
KLHL23p.C126Lfs*2
Frame_Shift_Ins
INS
0.321
2--
KLHL29p.Y227C
Missense
SNP
0.508
2--
KLHL38-
-
-
-
3Gain-
KLHL42p.C399Vfs*44
Frame_Shift_Del
DEL
0.272
3Gain-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
3Gain-
KLLN-
-
-
-
3Gain-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2Bp.R1235W
p.R1400C
Missense
Missense
SNP
SNP
0.521
0.465
2--
KMT2Cp.S143Vfs*3
p.P1838H
Frame_Shift_Del
Missense
DEL
SNP
0.626
0.649
3Gain-
KMT2Dp.A3552Sfs*4
p.P2354Lfs*30
p.R5086*
p.P877H
Frame_Shift_Ins
Frame_Shift_Del
Nonsense
Missense
INS
DEL
SNP
SNP
0.233
0.595
0.348
0.314
3Gain-
KMT2Ep.M1354*
Frame_Shift_Del
DEL
0.585
3Gain-
KMT5A-
-
-
-
3Gain-
KNDC1p.Q1704*
Nonsense
SNP
0.585
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA4p.H170Pfs*6
Frame_Shift_Ins
INS
0.296
2--
KPNA7-
-
-
-
3Gain-
KRASp.G13D
Missense
SNP
0.605
3Gain-
KRBA1-
-
-
-
3Gain-
KRBOX1p.Q77Sfs*6
Frame_Shift_Del
DEL
0.457
2--
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT34p.R376W
Missense
SNP
0.470
2--
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
KYAT1-
-
-
-
3Gain-
KYAT3p.I153T
Missense
SNP
0.470
2--
L3MBTL1-
-
-
-
3Gain-
L3MBTL4-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3p.P1658Lfs*91
p.R1841H
Frame_Shift_Del
Missense
DEL
SNP
0.327
0.723
3Gain-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC3p.R152H
Missense
SNP
0.692
3Gain-
LAMP5p.R230Q
Missense
SNP
0.277
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARP1p.T226Pfs*23
Frame_Shift_Del
DEL
0.366
2--
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBX1-
-
-
-
3Gain-
LCLAT1p.N222Mfs*21
Frame_Shift_Del
DEL
0.553
2--
LCN1-
-
-
-
3Gain-
LCN10-
-
-
-
3Gain-
LCN12-
-
-
-
3Gain-
LCN15-
-
-
-
3Gain-
LCN2-
-
-
-
3Gain-
LCN6-
-
-
-
3Gain-
LCN8-
-
-
-
3Gain-
LCN9-
-
-
-
3Gain-
LCNL1-
-
-
-
3Gain-
LCOR-
-
-
-
3Gain-
LCTp.A952T
p.A694T
Missense
Missense
SNP
SNP
0.519
0.496
2--
LDB1-
-
-
-
3Gain-
LDB3-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LDLRAD4-
-
-
-
3Gain-
LEFTY2p.P286Rfs*41
Frame_Shift_Del
DEL
0.471
2--
LEMD3-
-
-
-
3Gain-
LEPp.G8R
Missense
SNP
0.667
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGI1-
-
-
-
3Gain-
LGI3-
-
-
-
3Gain-
LGR4p.R304C
Missense
SNP
0.460
2--
LGR5-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LHPP-
-
-
-
3Gain-
LHX2p.T374Pfs*5
Frame_Shift_Del
DEL
0.586
3Gain-
LHX3-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LIG1p.D410N
Missense
SNP
0.563
2--
LIMA1p.T537Lfs*38
Frame_Shift_Del
DEL
0.288
3Gain-
LIME1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIN7A-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LIPA-
-
-
-
3Gain-
LIPEp.E943D
Missense
SNP
0.459
2--
LIPF-
-
-
-
3Gain-
LIPG-
-
-
-
3Gain-
LIPJ-
-
-
-
3Gain-
LIPK-
-
-
-
3Gain-
LIPM-
-
-
-
3Gain-
LIPN-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN1-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMX1B-
-
-
-
3Gain-
LONRF1-
-
-
-
3Gain-
LOXHD1p.F865L
Missense
SNP
0.278
3Gain-
LOXL2-
-
-
-
3Gain-
LOXL3p.R148C
Missense
SNP
0.493
2--
LOXL4-
-
-
-
3Gain-
LPAp.R1464Q
Missense
SNP
0.517
2--
LPAR1-
-
-
-
3Gain-
LPAR5p.R78C
Missense
SNP
0.310
3Gain-
LPCAT3-
-
-
-
3Gain-
LPIN2-
-
-
-
3Gain-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LRBAp.R1992Q
Missense
SNP
0.506
2--
LRCH4-
-
-
-
3Gain-
LRCOL1-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRIT1-
-
-
-
3Gain-
LRIT2-
-
-
-
3Gain-
LRMDA-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1p.R1628H
Missense
SNP
0.246
3Gain-
LRP12-
-
-
-
3Gain-
LRP1Bp.G1820E
Missense
SNP
0.391
2--
LRP6-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC20-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC26-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC3Bp.T201Lfs*17
Frame_Shift_Del
DEL
0.417
2--
LRRC4-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC46p.P282H
Missense
SNP
0.497
2--
LRRC6-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC8A-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3p.K244Nfs*17
Frame_Shift_Del
DEL
0.357
2--
LRRK2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRN4-
-
-
-
3Gain-
LRRTM3-
-
-
-
3Gain-
LRSAM1-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
3Gain-
LSM14B-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTBP2p.V586*
Frame_Shift_Del
DEL
0.071
2--
LTBR-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYSTp.R3449Q
Missense
SNP
0.459
2--
LYZ-
-
-
-
3Gain-
LYZL1p.G102S
Missense
SNP
0.358
3Gain-
LYZL2-
-
-
-
3Gain-
LZTR1p.A392V
Missense
SNP
0.571
2--
LZTS1-
-
-
-
3Gain-
LZTS2-
-
-
-
3Gain-
LZTS3-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAATS1p.R618H
Missense
SNP
0.472
2--
MACC1-
-
-
-
3Gain-
MACF1p.R4914H
Missense
SNP
0.554
2--
MACROD2-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGED2p.X362_splice
Splice_Site
SNP
0.545
NDND-
MAGEH1p.S56N
Missense
SNP
0.532
NDND-
MAGI2-
-
-
-
3Gain-
MAGOHB-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MALT1p.G126*
Nonsense
SNP
0.295
3Gain-
MAMDC2-
-
-
-
3Gain-
MAMDC4-
-
-
-
3Gain-
MAN1B1-
-
-
-
3Gain-
MANBAL-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAOAp.R454*
Nonsense
SNP
0.385
NDND-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP1Sp.S595*
Frame_Shift_Ins
INS
0.360
2--
MAP3K12-
-
-
-
3Gain-
MAP3K8-
-
-
-
3Gain-
MAP3K9p.R445H
Missense
SNP
0.516
2--
MAP4K3p.G190Vfs*16
Frame_Shift_Del
DEL
0.398
2--
MAP4K5p.P590Tfs*29
Frame_Shift_Ins
INS
0.333
2--
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
3Gain-
MAPK8-
-
-
-
3Gain-
MAPK8IP2p.R461*
Nonsense
SNP
0.600
2--
MAPKAP1-
-
-
-
3Gain-
MAPKAPK3p.R31Afs*47
Frame_Shift_Ins
INS
0.277
2--
MAPKAPK5-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MAPRE2p.A45V
Missense
SNP
0.286
3Gain-
MARCH5-
-
-
-
3Gain-
MARCH8-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.292
2--
MARS-
-
-
-
3Gain-
MARVELD1-
-
-
-
3Gain-
MASP1p.S272N
Missense
SNP
0.474
2--
MAST1p.G563D
p.G1280D
Missense
Missense
SNP
SNP
0.460
0.506
2--
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
3Gain-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAVS-
-
-
-
3Gain-
MAZp.F14Lfs*34
Frame_Shift_Ins
INS
0.367
2--
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBL2-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBOAT4-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTPS1p.G751R
Missense
SNP
0.450
2--
MC2R-
-
-
-
3Gain-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCCC1p.A670V
Missense
SNP
0.490
2--
MCHR2p.R140*
Nonsense
SNP
0.484
2--
MCM10-
-
-
-
3Gain-
MCM4p.T629Qfs*18
Frame_Shift_Del
DEL
0.582
3Gain-
MCM5p.R114Q
Missense
SNP
0.481
2--
MCM7-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCMBP-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCPH1p.T468Pfs*32
Frame_Shift_Del
DEL
0.583
3Gain-
MCRS1-
-
-
-
3Gain-
MCTP1p.F877Ifs*4
Frame_Shift_Ins
INS
0.307
2--
MCU-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH1Bp.V475I
Missense
SNP
0.607
2--
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MDN1p.E2692*
Frame_Shift_Ins
INS
0.302
2--
ME2-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED22-
-
-
-
3Gain-
MED27-
-
-
-
3Gain-
MED30-
-
-
-
3Gain-
MEDAGp.G69Afs*29
Frame_Shift_Del
DEL
0.205
2--
MEGF6p.A1440Hfs*78
Frame_Shift_Del
DEL
0.469
2--
MEGF9-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MELK-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MESTp.R167Q
Missense
SNP
0.316
3Gain-
MET-
-
-
-
3Gain-
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9p.L110M
Missense
SNP
0.430
2--
MEX3Bp.Y55Rfs*21
Frame_Shift_Del
DEL
0.526
2--
MEX3C-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFSD1p.R58W
Missense
SNP
0.520
2--
MFSD13A-
-
-
-
3Gain-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD4Bp.C202Vfs*4
Frame_Shift_Del
DEL
0.405
2--
MFSD5-
-
-
-
3Gain-
MFSD7p.A108V
Missense
SNP
0.421
NDND-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGMT-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MIA3p.R1809H
Missense
SNP
0.492
2--
MIB1-
-
-
-
3Gain-
MICAL1p.G115R
Missense
SNP
0.465
2--
MICAL3p.R1405Gfs*33
Frame_Shift_Del
DEL
0.524
2--
MICALCLp.S51Afs*49
p.R261Q
Frame_Shift_Del
Missense
DEL
SNP
0.497
0.550
NDND-
MICALL2-
-
-
-
3Gain-
MICU1-
-
-
-
3Gain-
MICU3-
-
-
-
3Gain-
MIGA2-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINPP1-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MISPp.G116R
Missense
SNP
0.589
2--
MKI67-
-
-
-
3Gain-
MKKS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLC1p.L217M
Missense
SNP
0.458
2--
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLLT10-
-
-
-
3Gain-
MLLT3p.R556C
Missense
SNP
0.269
3Gain-
MLXIPp.R214C
p.A498T
Missense
Missense
SNP
SNP
0.398
0.335
3Gain-
MLXIPL-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP16-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP21-
-
-
-
3Gain-
MMP24-
-
-
-
3Gain-
MMP9-
-
-
-
3Gain-
MMRN2-
-
-
-
3Gain-
MMS19-
-
-
-
3Gain-
MMS22Lp.G527C
Missense
SNP
0.490
2--
MNX1-
-
-
-
3Gain-
MOB3B-
-
-
-
3Gain-
MOCOS-
-
-
-
3Gain-
MOCS3-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MORN4-
-
-
-
3Gain-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MPDZ-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
3Gain-
MPPE1p.E83Gfs*40
Frame_Shift_Ins
INS
0.152
3Gain-
MRC1-
-
-
-
3Gain-
MRGBP-
-
-
-
3Gain-
MRGPRFp.A97V
Missense
SNP
0.517
2--
MRM2-
-
-
-
3Gain-
MRO-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH2Bp.I1372Sfs*5
Frame_Shift_Del
DEL
0.437
2--
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH8p.L976I
Missense
SNP
0.361
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL41-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL43-
-
-
-
3Gain-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS16-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS2-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSMB-
-
-
-
3Gain-
MSMP-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MSS51-
-
-
-
3Gain-
MST1Rp.V898M
Missense
SNP
0.469
2--
MTA1p.R682C
Missense
SNP
0.430
2--
MTAP-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTCL1-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTG1-
-
-
-
3Gain-
MTG2-
-
-
-
3Gain-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTSS1Lp.G560Afs*34
Frame_Shift_Del
DEL
0.424
2--
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MTX1p.R8Afs*110
Frame_Shift_Del
DEL
0.430
2--
MUC12-
-
-
-
3Gain-
MUC15p.K20Nfs*12
Frame_Shift_Del
DEL
0.348
2--
MUC17p.P935L
Missense
SNP
0.628
3Gain-
MUC19-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUC5ACp.M5088I
Missense
SNP
0.455
2--
MUCL1-
-
-
-
3Gain-
MUSK-
-
-
-
3Gain-
MVB12B-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MXI1-
-
-
-
3Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.400
2--
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2p.G3497*
Nonsense
SNP
0.376
2--
MYCNp.A220D
Missense
SNP
0.453
2--
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.457
2--
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH1p.A376T
Missense
SNP
0.415
2--
MYH10p.Q886R
Missense
SNP
0.534
2--
MYH7B-
-
-
-
3Gain-
MYH9p.L812I
Missense
SNP
0.514
2--
MYL10-
-
-
-
3Gain-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7p.Q79R
Missense
SNP
0.693
3Gain-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYMK-
-
-
-
3Gain-
MYO15Ap.P2508Lfs*35
Frame_Shift_Del
DEL
0.447
2--
MYO1A-
-
-
-
3Gain-
MYO1Gp.R37C
Missense
SNP
0.315
3Gain-
MYO1H-
-
-
-
3Gain-
MYO3A-
-
-
-
3Gain-
MYO5Ap.A695T
Missense
SNP
0.414
2--
MYO5B-
-
-
-
3Gain-
MYO7Bp.P107L
Missense
SNP
0.576
2--
MYOD1p.P172Lfs*39
Frame_Shift_Del
DEL
0.459
2--
MYOFp.I1430V
Missense
SNP
0.664
3Gain-
MYOM1-
-
-
-
3Gain-
MYOM2-
-
-
-
3Gain-
MYOM3p.E1430K
Missense
SNP
0.467
2--
MYORG-
-
-
-
3Gain-
MYOZ1-
-
-
-
3Gain-
MYPNp.I891*
Frame_Shift_Del
DEL
0.311
3Gain-
MYRFL-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MZT2B-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA35-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NACC2-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NANOS1-
-
-
-
3Gain-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L5p.A32V
Missense
SNP
0.494
2--
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARSp.V536M
Missense
SNP
0.371
3Gain-
NAT1-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAV3-
-
-
-
3Gain-
NBN-
-
-
-
3Gain-
NBPF1p.A354V
Missense
SNP
0.153
2--
NCALD-
-
-
-
3Gain-
NCAPD2-
-
-
-
3Gain-
NCAPG2-
-
-
-
3Gain-
NCBP1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCKIPSDp.F631del
In_Frame_Del
DEL
0.481
2--
NCOA2p.V1419M
Missense
SNP
0.587
3Gain-
NCOA3p.Q78*
Nonsense
SNP
0.826
3Gain-
NCOA4-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR2-
-
-
-
3Gain-
NCS1-
-
-
-
3Gain-
NDC80p.T571M
Missense
SNP
0.668
3Gain-
NDOR1-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDST2-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA8-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFAF7p.A290V
Missense
SNP
0.490
2--
NDUFB2-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFB8-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS7p.A187T
Missense
SNP
0.422
2--
NDUFV2-
-
-
-
3Gain-
NEBL-
-
-
-
3Gain-
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECAP1-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD4Lp.N156Mfs*51
Frame_Shift_Del
DEL
0.675
3Gain-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK1p.D1179Y
Missense
SNP
0.406
2--
NEK10p.A529V
Missense
SNP
0.470
2--
NEK4p.R743W
Missense
SNP
0.446
2--
NEK6-
-
-
-
3Gain-
NELFB-
-
-
-
3Gain-
NELFCD-
-
-
-
3Gain-
NELL2-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEURL1-
-
-
-
3Gain-
NEURL1Bp.R533Q
Missense
SNP
0.511
2--
NEURL2-
-
-
-
3Gain-
NEURL4p.L1256Cfs*12
Frame_Shift_Del
DEL
0.406
2--
NEUROD4-
-
-
-
3Gain-
NEUROD6p.K83Rfs*35
Frame_Shift_Del
DEL
0.644
3Gain-
NEUROG3-
-
-
-
3Gain-
NF1p.P678Rfs*10
Frame_Shift_Del
DEL
0.481
2--
NFATC1-
-
-
-
3Gain-
NFATC2p.K321Rfs*70
Frame_Shift_Del
DEL
0.329
3Gain-
NFE2p.R300Q
Missense
SNP
0.707
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
3Gain-
NFIL3-
-
-
-
3Gain-
NFKB2-
-
-
-
3Gain-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NHLRC2-
-
-
-
3Gain-
NHSp.V190I
Missense
SNP
0.538
NDND-
NHSL2p.S123L
Missense
SNP
0.389
NDND-
NID1p.S600F
Missense
SNP
0.508
2--
NINJ1-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCHp.R957H
Missense
SNP
0.535
2--
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKX1-2-
-
-
-
3Gain-
NKX2-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
3Gain-
NKX2-8p.Q116H
Missense
SNP
0.455
2--
NKX3-1-
-
-
-
3Gain-
NKX6-2-
-
-
-
3Gain-
NKX6-3-
-
-
-
3Gain-
NLRC5p.R1500W
Missense
SNP
0.522
2--
NLRP2p.R587Q
Missense
SNP
0.426
2--
NLRP6p.A826T
Missense
SNP
0.527
2--
NLRP8p.E619G
Missense
SNP
0.487
2--
NME8-
-
-
-
3Gain-
NMRK1-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NNAT-
-
-
-
3Gain-
NOC3L-
-
-
-
3Gain-
NOC4L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NODAL-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOLC1-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOP56-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOTCH1p.Q462*
Nonsense
SNP
0.685
3Gain-
NOV-
-
-
-
3Gain-
NOVA1p.K210N
Missense
SNP
0.493
2--
NOVA2p.V221M
Missense
SNP
0.475
2--
NOXA1-
-
-
-
3Gain-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPDC1-
-
-
-
3Gain-
NPEPL1-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPFFR1-
-
-
-
3Gain-
NPM2-
-
-
-
3Gain-
NPM3-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPRL3p.Y531H
Missense
SNP
0.567
2--
NPS-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2F1p.N263D
Missense
SNP
0.465
2--
NR3C2p.V618A
Missense
SNP
0.503
2--
NR4A1-
-
-
-
3Gain-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRAP-
-
-
-
3Gain-
NRARP-
-
-
-
3Gain-
NRBF2-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1p.E79*
Nonsense
SNP
0.334
3Gain-
NRG3-
-
-
-
3Gain-
NRIP2-
-
-
-
3Gain-
NRKp.Q410H
p.Q809R
Missense
Missense
SNP
SNP
0.495
0.458
NDND-
NRP1-
-
-
-
3Gain-
NRSN2-
-
-
-
3Gain-
NSD1p.M1531Cfs*43
Frame_Shift_Del
DEL
0.528
2--
NSD3-
-
-
-
3Gain-
NSFL1C-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE4A-
-
-
-
3Gain-
NSMF-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NT5C2-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTHL1p.V127Gfs*43
Frame_Shift_Ins
INS
0.310
2--
NTMT1-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTNG2p.G144S
Missense
SNP
0.349
3Gain-
NTRK1p.R347H
Missense
SNP
0.564
2--
NTRK2-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT13-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUDT2-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUGGC-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP133p.K968del
In_Frame_Del
DEL
0.436
2--
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP214-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NXNL2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4p.G210Afs*166
Frame_Shift_Del
DEL
0.333
3Gain-
NXT1-
-
-
-
3Gain-
NYAP1p.V572Gfs*4
Frame_Shift_Ins
INS
0.199
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OAT-
-
-
-
3Gain-
OBP2A-
-
-
-
3Gain-
OBP2B-
-
-
-
3Gain-
OBSCNp.G2909E
Missense
SNP
0.583
2--
OC90-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF2p.A768V
Missense
SNP
0.368
3Gain-
OGA-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGDHL-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OGFR-
-
-
-
3Gain-
OGN-
-
-
-
3Gain-
OIT3p.P538L
Missense
SNP
0.299
3Gain-
OLAH-
-
-
-
3Gain-
OLFM1-
-
-
-
3Gain-
OLFML2A-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OMD-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
OPALIN-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPN4-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR13A1-
-
-
-
3Gain-
OR13C2-
-
-
-
3Gain-
OR13C3p.A149T
Missense
SNP
0.668
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13H1p.R298W
Missense
SNP
0.449
NDND-
OR13J1-
-
-
-
3Gain-
OR14C36p.F105Lfs*28
Frame_Shift_Del
DEL
0.507
2--
OR1A2p.R122*
Nonsense
SNP
0.575
2--
OR1B1-
-
-
-
3Gain-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR1S2p.I26T
Missense
SNP
0.536
2--
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2J1p.N287H
Missense
SNP
0.431
2--
OR2J2p.N6Mfs*21
Frame_Shift_Del
DEL
0.364
2--
OR2K2-
-
-
-
3Gain-
OR2S2-
-
-
-
3Gain-
OR4C12p.R258C
Missense
SNP
0.482
2--
OR4D6p.T241M
Missense
SNP
0.433
2--
OR4D9p.S116C
Missense
SNP
0.453
2--
OR51B5p.M63I
Missense
SNP
0.496
2--
OR5BS1P-
-
-
-
3Gain-
OR5C1-
-
-
-
3Gain-
OR5D14p.G46W
Missense
SNP
0.269
2--
OR6B1-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75p.R221W
Missense
SNP
0.276
3Gain-
OR6C76p.K311Tfs*?
Frame_Shift_Del
DEL
0.600
3Gain-
OR6N1p.R165C
Missense
SNP
0.427
2--
OR6V1-
-
-
-
3Gain-
OR7A10p.I46T
Missense
SNP
0.500
2--
OR7G2p.Y280H
Missense
SNP
0.476
2--
OR8B12p.S234F
Missense
SNP
0.371
2--
OR8K3p.F311Lfs*?
Frame_Shift_Del
DEL
0.513
2--
OR8S1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OSTF1-
-
-
-
3Gain-
OTOGL-
-
-
-
3Gain-
OTOR-
-
-
-
3Gain-
OTUD1-
-
-
-
3Gain-
OTUD6B-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
OVOL2-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
OXT-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RX3p.D306Y
Missense
SNP
0.445
2--
P2RX4-
-
-
-
3Gain-
P2RX5p.Y338C
Missense
SNP
0.443
2--
P2RX7-
-
-
-
3Gain-
P3H2p.K430Sfs*6
Frame_Shift_Del
DEL
0.531
2--
P3H3-
-
-
-
3Gain-
P4HA1-
-
-
-
3Gain-
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.579
2--
PA2G4-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PAEP-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PALD1-
-
-
-
3Gain-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PAN2-
-
-
-
3Gain-
PANK1-
-
-
-
3Gain-
PANK2-
-
-
-
3Gain-
PAOX-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PAPPA-
-
-
-
3Gain-
PAPSS2-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARD3Bp.R932G
Missense
SNP
0.413
2--
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP11-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP9p.A55T
Missense
SNP
0.412
2--
PARPBP-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX1p.R197H
Missense
SNP
0.323
3Gain-
PAX2-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX5-
-
-
-
3Gain-
PAX7p.A259V
Missense
SNP
0.444
2--
PAXIP1-
-
-
-
3Gain-
PAXX-
-
-
-
3Gain-
PBK-
-
-
-
3Gain-
PBLD-
-
-
-
3Gain-
PBX1p.G124R
Missense
SNP
0.553
2--
PBX3-
-
-
-
3Gain-
PCp.R453Q
Missense
SNP
0.500
2--
PCBD1-
-
-
-
3Gain-
PCBP2-
-
-
-
3Gain-
PCDH1p.K1028Qfs*33
Frame_Shift_Ins
INS
0.315
2--
PCDH12p.L685Yfs*7
Frame_Shift_Del
DEL
0.437
2--
PCDH15-
-
-
-
3Gain-
PCDH18p.E1007K
Missense
SNP
0.383
2--
PCDH9p.A526V
Missense
SNP
0.524
2--
PCDHA3p.R62H
Missense
SNP
0.700
2--
PCDHA6p.R428W
Missense
SNP
0.412
2--
PCDHB16p.I142Yfs*7
Frame_Shift_Del
DEL
0.453
2--
PCDHB4p.G536S
Missense
SNP
0.281
2--
PCDHGA11p.R12W
Missense
SNP
0.485
2--
PCDHGA3p.A578V
Missense
SNP
0.563
2--
PCED1A-
-
-
-
3Gain-
PCED1B-
-
-
-
3Gain-
PCGF5-
-
-
-
3Gain-
PCGF6-
-
-
-
3Gain-
PCIF1-
-
-
-
3Gain-
PCK1p.I612Rfs*5
Frame_Shift_Ins
INS
0.362
3Gain-
PCK2p.A448T
Missense
SNP
0.442
2--
PCLOp.L2443Vfs*15
p.S3436G
p.S1052L
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.303
0.659
0.671
3Gain-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNX1p.E466K
Missense
SNP
0.430
2--
PCOLCE-
-
-
-
3Gain-
PCSK1Np.A31Rfs*7
Frame_Shift_Del
DEL
0.460
NDND-
PCSK2-
-
-
-
3Gain-
PCSK5-
-
-
-
3Gain-
PCSK9p.R93H
Missense
SNP
0.529
2--
PCYOX1p.R484C
Missense
SNP
0.523
2--
PDAP1-
-
-
-
3Gain-
PDCD11-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
3Gain-
PDCD4-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDE1B-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE3Ap.E171Gfs*49
Frame_Shift_Ins
INS
0.204
3Gain-
PDE5Ap.H617Y
Missense
SNP
0.531
2--
PDE6C-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDGFRL-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
3Gain-
PDLIM2-
-
-
-
3Gain-
PDLIM4p.R16H
Missense
SNP
0.568
2--
PDP1-
-
-
-
3Gain-
PDRG1-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDX1p.S231P
Missense
SNP
0.281
2--
PDYN-
-
-
-
3Gain-
PDZD2p.K104Qfs*38
p.L2392W
Frame_Shift_Ins
Missense
INS
SNP
0.304
0.416
2--
PDZD7-
-
-
-
3Gain-
PDZD8-
-
-
-
3Gain-
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PEBP4-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PEG3p.S403L
Missense
SNP
0.494
2--
PENK-
-
-
-
3Gain-
PET100p.R37H
Missense
SNP
0.435
2--
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX5p.R241W
Missense
SNP
0.268
3Gain-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFKPp.R265Gfs*2
p.I320V
Frame_Shift_Del
Missense
DEL
SNP
0.360
0.629
3Gain-
PGAM1-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGAP2p.R314*
Nonsense
SNP
0.735
2--
PGM5-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHF13p.A145T
Missense
SNP
0.436
2--
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21Ap.P652Lfs*104
Frame_Shift_Del
DEL
0.514
2--
PHF24-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHKG2p.R71W
Missense
SNP
0.548
2--
PHLDA1-
-
-
-
3Gain-
PHLPP1-
-
-
-
3Gain-
PHPT1-
-
-
-
3Gain-
PHRF1p.P938Qfs*23
Frame_Shift_Del
DEL
0.316
2--
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYHIP-
-
-
-
3Gain-
PHYHIPL-
-
-
-
3Gain-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4K2A-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIAS2-
-
-
-
3Gain-
PIEZO2-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGO-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIK3AP1-
-
-
-
3Gain-
PIK3C2Bp.R287Pfs*38
Frame_Shift_Ins
INS
0.291
2--
PIK3C2G-
-
-
-
3Gain-
PIK3C3-
-
-
-
3Gain-
PIK3CDp.C355Y
Missense
SNP
0.590
2--
PIK3CG-
-
-
-
3Gain-
PIK3R4p.V448I
Missense
SNP
0.455
2--
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PINX1-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIP5KL1p.R9Afs*47
Frame_Shift_Del
DEL
0.333
3Gain-
PITPNM2-
-
-
-
3Gain-
PITRM1-
-
-
-
3Gain-
PITX3-
-
-
-
3Gain-
PIWIL1-
-
-
-
3Gain-
PIWIL2-
-
-
-
3Gain-
PIWIL3p.R256H
Missense
SNP
0.478
2--
PKD1L1-
-
-
-
3Gain-
PKD2L1-
-
-
-
3Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKN2p.F590S
p.E854D
Missense
Missense
SNP
SNP
0.600
0.450
2--
PKN3-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G12B-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLAA-
-
-
-
3Gain-
PLAC9-
-
-
-
3Gain-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
3Gain-
PLATp.T46M
Missense
SNP
0.337
3Gain-
PLAU-
-
-
-
3Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCE1p.R729Q
Missense
SNP
0.074
3Gain-
PLCG1-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD3p.A402V
Missense
SNP
0.474
2--
PLD5p.V376I
Missense
SNP
0.534
2--
PLECp.T3608M
p.E2305*
p.R609H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.210
0.632
0.721
3Gain-
PLEKHA1-
-
-
-
3Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHG4p.N1113D
Missense
SNP
0.574
2--
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHO1p.Q256Rfs*6
Frame_Shift_Del
DEL
0.365
2--
PLEKHS1-
-
-
-
3Gain-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
3Gain-
PLPP4-
-
-
-
3Gain-
PLPP5-
-
-
-
3Gain-
PLPP6-
-
-
-
3Gain-
PLPP7-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLTP-
-
-
-
3Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA1p.D1478N
Missense
SNP
0.424
2--
PLXNA4-
-
-
-
3Gain-
PLXNC1-
-
-
-
3Gain-
PMAIP1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMEPA1-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMPCA-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2p.R199C
Missense
SNP
0.638
3Gain-
PNISRp.R697Gfs*15
Frame_Shift_Del
DEL
0.406
2--
PNLIP-
-
-
-
3Gain-
PNLIPRP1-
-
-
-
3Gain-
PNLIPRP2-
-
-
-
3Gain-
PNLIPRP3-
-
-
-
3Gain-
PNMA2-
-
-
-
3Gain-
PNOC-
-
-
-
3Gain-
PNPLA2p.A432T
Missense
SNP
0.595
2--
PNPLA6p.A533T
Missense
SNP
0.407
2--
PNPLA7-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POFUT1-
-
-
-
3Gain-
POLB-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLE3-
-
-
-
3Gain-
POLGp.R574Q
Missense
SNP
0.512
2--
POLI-
-
-
-
3Gain-
POLL-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLR1Dp.R83H
Missense
SNP
0.430
2--
POLR1E-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR3A-
-
-
-
3Gain-
POLR3B-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3F-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMK-
-
-
-
3Gain-
POMT1-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F2p.S577G
Missense
SNP
0.552
2--
POU5F1B-
-
-
-
3Gain-
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PP2D1p.I173V
Missense
SNP
0.542
2--
PPA1-
-
-
-
3Gain-
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.666
3Gain-
PPDPFL-
-
-
-
3Gain-
PPFIA2p.R50W
Missense
SNP
0.365
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1p.E370G
Missense
SNP
0.350
3Gain-
PPIA-
-
-
-
3Gain-
PPIF-
-
-
-
3Gain-
PPIGp.R248*
Nonsense
SNP
0.489
2--
PPIL1p.R72*
Nonsense
SNP
0.583
2--
PPLp.R419Q
Missense
SNP
0.482
2--
PPM1H-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.497
2--
PPP1R13Lp.A195T
Missense
SNP
0.608
2--
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R26-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
3Gain-
PPP1R3C-
-
-
-
3Gain-
PPP1R3D-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2CB-
-
-
-
3Gain-
PPP2R1Ap.T524M
Missense
SNP
0.648
2--
PPP2R2A-
-
-
-
3Gain-
PPP2R2D-
-
-
-
3Gain-
PPP3CB-
-
-
-
3Gain-
PPP3CC-
-
-
-
3Gain-
PPP3R2-
-
-
-
3Gain-
PPP4R1-
-
-
-
3Gain-
PPP6C-
-
-
-
3Gain-
PPRC1-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PQLC1-
-
-
-
3Gain-
PRAG1-
-
-
-
3Gain-
PRAP1-
-
-
-
3Gain-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM12-
-
-
-
3Gain-
PRDM14-
-
-
-
3Gain-
PRDM4-
-
-
-
3Gain-
PRDX3-
-
-
-
3Gain-
PRDX4p.R171Efs*6
Frame_Shift_Del
DEL
0.388
NDND-
PRELID3A-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PRELPp.N334Qfs*8
Frame_Shift_Ins
INS
0.331
2--
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRF1-
-
-
-
3Gain-
PRG4p.T367I
Missense
SNP
0.527
2--
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRICKLE3p.Q533R
Missense
SNP
0.483
NDND-
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCQ-
-
-
-
3Gain-
PRKDC-
-
-
-
3Gain-
PRKG1-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRLHR-
-
-
-
3Gain-
PRMT2p.A23V
Missense
SNP
0.647
2--
PRMT8-
-
-
-
3Gain-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROCR-
-
-
-
3Gain-
PROKR2-
-
-
-
3Gain-
PROM2p.E728Vfs*17
Frame_Shift_Del
DEL
0.358
2--
PROSCp.Q71H
Missense
SNP
0.316
NDND-
PROSER2-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF4-
-
-
-
3Gain-
PRPF40Bp.P40L
p.R491*
Missense
Nonsense
SNP
SNP
0.707
0.331
3Gain-
PRPF6-
-
-
-
3Gain-
PRPF8p.R49W
Missense
SNP
0.318
2--
PRPH-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRR12p.F1281L
Missense
SNP
0.511
2--
PRR13-
-
-
-
3Gain-
PRR14Lp.F1767del
In_Frame_Del
DEL
0.419
2--
PRR15-
-
-
-
3Gain-
PRR16p.C172Y
Missense
SNP
0.589
2--
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR35p.A246Gfs*88
Frame_Shift_Ins
INS
0.268
2--
PRR4-
-
-
-
3Gain-
PRRC2B-
-
-
-
3Gain-
PRRT1B-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS55-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2A-
-
-
-
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
3Gain-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSD-
-
-
-
3Gain-
PSD3-
-
-
-
3Gain-
PSEN1p.S178Hfs*24
Frame_Shift_Del
DEL
0.702
2--
PSG2p.A263V
Missense
SNP
0.484
2--
PSIP1-
-
-
-
3Gain-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
3Gain-
PSMB7-
-
-
-
3Gain-
PSMC2p.A269Sfs*7
Frame_Shift_Ins
INS
0.213
3Gain-
PSMC5p.E396G
Missense
SNP
0.533
2--
PSMD5-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTK-
-
-
-
3Gain-
PSTPIP2-
-
-
-
3Gain-
PTAR1-
-
-
-
3Gain-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCH1-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTDSS1-
-
-
-
3Gain-
PTEN-
-
-
-
3Gain-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDS-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGES3-
-
-
-
3Gain-
PTGIS-
-
-
-
3Gain-
PTGR1-
-
-
-
3Gain-
PTGS1-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTNp.V42*
Frame_Shift_Del
DEL
0.657
3Gain-
PTOV1p.*417Sfs*14
Frame_Shift_Del
DEL
0.538
2--
PTP4A3-
-
-
-
3Gain-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPN3-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRDp.V1848I
p.R401W
Missense
Missense
SNP
SNP
0.327
0.672
3Gain-
PTPRE-
-
-
-
3Gain-
PTPRM-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRTp.P372L
Missense
SNP
0.308
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTRH1-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PUM1p.R922Q
Missense
SNP
0.449
2--
PUM3-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PWWP2B-
-
-
-
3Gain-
PXDNL-
-
-
-
3Gain-
PXMP2-
-
-
-
3Gain-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGB-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PYROXD2-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QKIp.A273V
Missense
SNP
0.471
2--
QRFP-
-
-
-
3Gain-
QSER1p.N1697Mfs*4
Frame_Shift_Del
DEL
0.500
2--
QSOX2-
-
-
-
3Gain-
R3HCC1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
R3HDML-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
3Gain-
RAB11FIP4p.T257M
Missense
SNP
0.574
2--
RAB12-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB17p.A204V
Missense
SNP
0.529
2--
RAB18p.P4S
Missense
SNP
0.676
3Gain-
RAB19-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB27B-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB40Cp.K261N
Missense
SNP
0.421
2--
RAB4Bp.R129W
Missense
SNP
0.523
2--
RAB5B-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABL6-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RADILp.V165M
Missense
SNP
0.638
3Gain-
RAE1-
-
-
-
3Gain-
RAI2p.V474M
Missense
SNP
0.476
NDND-
RALA-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RALGAPA2-
-
-
-
3Gain-
RALGAPBp.F971Sfs*53
Frame_Shift_Del
DEL
0.670
3Gain-
RALGDS-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP3p.T292M
Missense
SNP
0.471
2--
RANBP6-
-
-
-
3Gain-
RANGAP1p.G21Dfs*3
Frame_Shift_Del
DEL
0.459
2--
RAP1B-
-
-
-
3Gain-
RAP1GAPp.S554L
Missense
SNP
0.639
2--
RAPGEF1-
-
-
-
3Gain-
RAPGEF3-
-
-
-
3Gain-
RAPGEF4p.E389Kfs*10
Frame_Shift_Del
DEL
0.429
2--
RAPGEF5-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASAL3p.R39H
Missense
SNP
0.564
2--
RASEF-
-
-
-
3Gain-
RASGEF1A-
-
-
-
3Gain-
RASGRP3p.R549Q
Missense
SNP
0.447
2--
RASL11Bp.R109C
Missense
SNP
0.457
2--
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF4-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9p.R166Q
Missense
SNP
0.097
3Gain-
RAX-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBL1-
-
-
-
3Gain-
RBM10p.R397H
Missense
SNP
0.476
NDND-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM14p.F191Lfs*40
Frame_Shift_Del
DEL
0.451
2--
RBM17-
-
-
-
3Gain-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM20p.R1057Q
Missense
SNP
0.637
3Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.358
2--
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM43p.I136Sfs*4
Frame_Shift_Del
DEL
0.400
2--
RBM46p.R266W
Missense
SNP
0.458
2--
RBM47p.G112S
Missense
SNP
0.529
2--
RBM48p.P217H
Missense
SNP
0.714
3Gain-
RBM4Bp.P154Lfs*24
Frame_Shift_Del
DEL
0.438
2--
RBMS2-
-
-
-
3Gain-
RBMXL1p.K9N
Missense
SNP
0.250
2--
RBP3-
-
-
-
3Gain-
RBP4-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
3Gain-
RC3H2-
-
-
-
3Gain-
RCAN3p.A151S
Missense
SNP
0.525
2--
RCC1p.R33H
Missense
SNP
0.443
2--
RCC1L-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RDH10.
Missense
DEL
0.365
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECK-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
REEP3-
-
-
-
3Gain-
REEP4-
-
-
-
3Gain-
RELAp.H487Pfs*4
Frame_Shift_Ins
INS
0.315
2--
RELCH-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REM1-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REREp.P940L
Missense
SNP
0.306
2--
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RET-
-
-
-
3Gain-
RETSATp.A586T
Missense
SNP
0.377
2--
REV3Lp.A2064S
Missense
SNP
0.468
2--
REXO4-
-
-
-
3Gain-
RFC2-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RFX5p.P19Qfs*28
Frame_Shift_Del
DEL
0.357
2--
RGP1-
-
-
-
3Gain-
RGR-
-
-
-
3Gain-
RGS10-
-
-
-
3Gain-
RGS12p.P1357L
Missense
SNP
0.673
2--
RGS19-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS3-
-
-
-
3Gain-
RGS9p.A547T
Missense
SNP
0.484
2--
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOBTB1-
-
-
-
3Gain-
RHOBTB2-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOXF1p.D174Tfs*22
Frame_Shift_Del
DEL
0.443
NDND-
RHPN1-
-
-
-
3Gain-
RIBC1p.H299R
Missense
SNP
0.473
NDND-
RIC1-
-
-
-
3Gain-
RIC8B-
-
-
-
3Gain-
RICTORp.M1511T
Missense
SNP
0.603
2--
RIDA-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RINT1p.P247Lfs*8
Frame_Shift_Del
DEL
0.312
3Gain-
RIOK3-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPK4p.A147T
Missense
SNP
0.500
2--
RIPOR3-
-
-
-
3Gain-
RIT2-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RLFp.R721*
Nonsense
SNP
0.435
2--
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RMI1-
-
-
-
3Gain-
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF113Bp.G104V
Missense
SNP
0.473
2--
RNF114-
-
-
-
3Gain-
RNF121p.R194W
Missense
SNP
0.530
2--
RNF122-
-
-
-
3Gain-
RNF123p.G207D
Missense
SNP
0.456
2--
RNF125-
-
-
-
3Gain-
RNF128p.R6M
Missense
SNP
0.484
NDND-
RNF133-
-
-
-
3Gain-
RNF138-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF145p.F434S
Missense
SNP
0.390
2--
RNF148-
-
-
-
3Gain-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF170-
-
-
-
3Gain-
RNF183-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF20p.R512C
Missense
SNP
0.356
3Gain-
RNF208-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF224-
-
-
-
3Gain-
RNF24-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF38-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNLS-
-
-
-
3Gain-
RNMTp.T394Hfs*19
Frame_Shift_Del
DEL
0.298
3Gain-
ROBO2p.L601P
Missense
SNP
0.556
2--
ROCK1-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
ROS1p.V2276A
p.G1915R
Missense
Missense
SNP
SNP
0.478
0.463
2--
RP1-
-
-
-
3Gain-
RP11-310K10.1p.A353T
Missense
SNP
0.489
NDND-
RP1L1-
-
-
-
3Gain-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP3-
-
-
-
3Gain-
RPEL1-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPL12-
-
-
-
3Gain-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.466
2--
RPL30-
-
-
-
3Gain-
RPL35-
-
-
-
3Gain-
RPL3Lp.A75V
Missense
SNP
0.548
2--
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL7Ap.K11del
In_Frame_Del
DEL
0.609
3Gain-
RPL8-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPN2-
-
-
-
3Gain-
RPP25L-
-
-
-
3Gain-
RPP30-
-
-
-
3Gain-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
3Gain-
RPRD1B-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS24-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS27p.V62I
Missense
SNP
0.516
2--
RPS6-
-
-
-
3Gain-
RPUSD4p.R235W
Missense
SNP
0.479
2--
RRAGA-
-
-
-
3Gain-
RRBP1-
-
-
-
3Gain-
RREB1p.S600N
Missense
SNP
0.517
2--
RRM2B-
-
-
-
3Gain-
RRP12-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTCAp.T334M
Missense
SNP
0.420
2--
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1p.R333*
Nonsense
SNP
0.524
2--
RTF2-
-
-
-
3Gain-
RTKN2-
-
-
-
3Gain-
RTTN-
-
-
-
3Gain-
RUFY2-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUSC2-
-
-
-
3Gain-
RXRA-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
S1PR3-
-
-
-
3Gain-
SACSp.K1717Nfs*8
p.F1581L
Frame_Shift_Del
Missense
DEL
SNP
0.530
0.418
2--
SALL3p.T658M
Missense
SNP
0.628
3Gain-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD8-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMHD1-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SAPCD2-
-
-
-
3Gain-
SAR1A-
-
-
-
3Gain-
SARAF-
-
-
-
3Gain-
SARDH-
-
-
-
3Gain-
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SAXO1-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SBSPON-
-
-
-
3Gain-
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.303
2--
SCAF11-
-
-
-
3Gain-
SCAI-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCART1-
-
-
-
3Gain-
SCD-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCN5Ap.K1683N
Missense
SNP
0.475
2--
SCN8Ap.W942C
Missense
SNP
0.672
3Gain-
SCNN1A-
-
-
-
3Gain-
SCP2D1-
-
-
-
3Gain-
SCRIBp.F1211L
Missense
SNP
0.711
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCTRp.L35P
Missense
SNP
0.427
2--
SCYL2-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDCBP2-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1p.R140C
Missense
SNP
0.239
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC11C-
-
-
-
3Gain-
SEC14L5p.A349V
Missense
SNP
0.445
2--
SEC16A-
-
-
-
3Gain-
SEC16Bp.V643M
Missense
SNP
0.565
2--
SEC23B-
-
-
-
3Gain-
SEC23IP-
-
-
-
3Gain-
SEC24C-
-
-
-
3Gain-
SEC31Bp.D564G
Missense
SNP
0.640
3Gain-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SECISBP2-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SEL1L2-
-
-
-
3Gain-
SEL1L3p.R94C
Missense
SNP
0.500
2--
SELPp.V501I
Missense
SNP
0.233
2--
SELPLG-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA4G-
-
-
-
3Gain-
SEMA5Bp.P325L
Missense
SNP
0.467
2--
SEMG1p.A241V
Missense
SNP
0.662
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
3Gain-
SENP6p.R1072*
Nonsense
SNP
0.509
2--
SENP7p.K545Nfs*11
Frame_Shift_Del
DEL
0.673
2--
SEPHS1-
-
-
-
3Gain-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERAC1p.V8I
Missense
SNP
0.400
2--
SERINC3-
-
-
-
3Gain-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12p.N170Tfs*39
Frame_Shift_Del
DEL
0.325
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SESTD1p.R268C
Missense
SNP
0.500
2--
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
3Gain-
SETD1Bp.H8Tfs*27
p.S291N
Frame_Shift_Del
Missense
DEL
SNP
0.932
0.713
3Gain-
SETD5p.S1286Lfs*37
Frame_Shift_Ins
INS
0.293
2--
SETX-
-
-
-
3Gain-
SEZ6L2p.A115Qfs*9
p.T77M
Frame_Shift_Del
Missense
DEL
SNP
0.571
0.273
2--
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
3Gain-
SFRP1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFRP5-
-
-
-
3Gain-
SFSWAP-
-
-
-
3Gain-
SFTPA1-
-
-
-
3Gain-
SFTPA2-
-
-
-
3Gain-
SFTPC-
-
-
-
3Gain-
SFTPD-
-
-
-
3Gain-
SFXN2-
-
-
-
3Gain-
SFXN3-
-
-
-
3Gain-
SFXN4-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
3Gain-
SGO1p.R522Efs*39
p.M325Cfs*28
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.480
0.421
2--
SGPL1-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D3C-
-
-
-
3Gain-
SH2D4A-
-
-
-
3Gain-
SH2D4B-
-
-
-
3Gain-
SH3GL2-
-
-
-
3Gain-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
3Gain-
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
3Gain-
SHC2p.P407Rfs*37
Frame_Shift_Del
DEL
0.431
2--
SHC3-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA7p.G359Afs*178
Frame_Shift_Del
DEL
0.463
2--
SHLD1-
-
-
-
3Gain-
SHLD2-
-
-
-
3Gain-
SHMT2-
-
-
-
3Gain-
SHOC2-
-
-
-
3Gain-
SHROOM2p.R753Q
Missense
SNP
0.552
NDND-
SHROOM4p.K1314Rfs*23
p.R242C
Frame_Shift_Del
Missense
DEL
SNP
0.497
0.460
NDND-
SHTN1-
-
-
-
3Gain-
SIGLEC1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
3Gain-
SIGMAR1-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT1-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIT1-
-
-
-
3Gain-
SIX5p.A625Pfs*31
Frame_Shift_Del
DEL
0.458
2--
SKA1-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKOR2-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC11A2-
-
-
-
3Gain-
SLC12A5-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A2p.A284V
Missense
SNP
0.096
2--
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A10p.I282Ffs*9
Frame_Shift_Del
DEL
0.448
2--
SLC16A12-
-
-
-
3Gain-
SLC16A13p.A97T
Missense
SNP
0.091
2--
SLC16A2p.G147R
Missense
SNP
0.486
NDND-
SLC16A7-
-
-
-
3Gain-
SLC16A9-
-
-
-
3Gain-
SLC17A8-
-
-
-
3Gain-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC18A2-
-
-
-
3Gain-
SLC18A3-
-
-
-
3Gain-
SLC19A3p.R277H
Missense
SNP
0.526
2--
SLC1A1-
-
-
-
3Gain-
SLC1A7p.T406I
Missense
SNP
0.507
2--
SLC20A2-
-
-
-
3Gain-
SLC22A16p.T87M
Missense
SNP
0.462
2--
SLC22A18p.T93M
Missense
SNP
0.364
2--
SLC22A6p.R192W
Missense
SNP
0.436
2--
SLC23A2-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A16-
-
-
-
3Gain-
SLC25A24p.G192R
Missense
SNP
0.583
2--
SLC25A25-
-
-
-
3Gain-
SLC25A28-
-
-
-
3Gain-
SLC25A3-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A37-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A51-
-
-
-
3Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A1p.R365H
Missense
SNP
0.393
2--
SLC26A10-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC27A4p.A554S
Missense
SNP
0.327
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC29A3-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
3Gain-
SLC2A6-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A8p.S183R
Missense
SNP
0.432
3Gain-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC34A3-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC35E3-
-
-
-
3Gain-
SLC35G1-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC35G5-
-
-
-
3Gain-
SLC37A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13p.A279T
Missense
SNP
0.467
2--
SLC39A14-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A6-
-
-
-
3Gain-
SLC41A2-
-
-
-
3Gain-
SLC44A1-
-
-
-
3Gain-
SLC44A4p.V238Wfs*5
Frame_Shift_Del
DEL
0.443
2--
SLC45A1p.P494L
Missense
SNP
0.560
2--
SLC45A4-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A10p.R127C
Missense
SNP
0.444
2--
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A8-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A6p.R142*
Nonsense
SNP
0.420
2--
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC7A10p.T158Pfs*12
Frame_Shift_Del
DEL
0.345
2--
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
3Gain-
SLC8B1-
-
-
-
3Gain-
SLC9A8-
-
-
-
3Gain-
SLC9C1p.F10Sfs*11
Frame_Shift_Del
DEL
0.557
2--
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO4A1p.T297M
Missense
SNP
0.649
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLF2-
-
-
-
3Gain-
SLIT1-
-
-
-
3Gain-
SLITRK5p.N762Tfs*12
Frame_Shift_Del
DEL
0.458
2--
SLK-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7p.P209Lfs*115
Frame_Shift_Del
DEL
0.280
3Gain-
SMAGP-
-
-
-
3Gain-
SMAP1p.K172Rfs*48
Frame_Shift_Del
DEL
0.413
2--
SMARCA1p.K57del
In_Frame_Del
DEL
0.396
NDND-
SMARCA2-
-
-
-
3Gain-
SMARCA4p.G271Rfs*16
p.G911D
p.R1157Q
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.296
0.457
0.581
2--
SMARCC2-
-
-
-
3Gain-
SMARCD1p.R503*
Nonsense
SNP
0.701
3Gain-
SMARCD3-
-
-
-
3Gain-
SMC2p.K368E
Missense
SNP
0.226
3Gain-
SMC3-
-
-
-
3Gain-
SMC5-
-
-
-
3Gain-
SMCHD1-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM21-
-
-
-
3Gain-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMNDC1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOX-
-
-
-
3Gain-
SMPD4-
-
-
-
1Loss-
SMPXp.R34Qfs*8
Frame_Shift_Ins
INS
0.377
NDND-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SMYD4p.S737G
Missense
SNP
0.478
2--
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP25-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPC4p.A1002V
Missense
SNP
0.106
3Gain-
SNCG-
-
-
-
3Gain-
SND1p.R539H
Missense
SNP
0.680
3Gain-
SNED1p.P701Rfs*4
Frame_Shift_Del
DEL
0.574
2--
SNPH-
-
-
-
3Gain-
SNRNP35p.R108C
Missense
SNP
0.683
3Gain-
SNRPA1p.P196S
Missense
SNP
0.511
2--
SNRPBp.R25W
Missense
SNP
0.327
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNW1p.Q15H
Missense
SNP
0.488
2--
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX21-
-
-
-
3Gain-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX5-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS6-
-
-
-
3Gain-
SOGA1-
-
-
-
3Gain-
SOHLH1-
-
-
-
3Gain-
SORBS1-
-
-
-
3Gain-
SORBS3-
-
-
-
3Gain-
SORCS1-
-
-
-
3Gain-
SORCS3-
-
-
-
3Gain-
SOS1p.K1030Nfs*6
Frame_Shift_Del
DEL
0.456
2--
SOSTDC1-
-
-
-
3Gain-
SOX12-
-
-
-
3Gain-
SOX17-
-
-
-
3Gain-
SOX18-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SOX7-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAAR-
-
-
-
3Gain-
SPACA9-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG4-
-
-
-
3Gain-
SPAG5p.R259C
Missense
SNP
0.427
2--
SPAG6-
-
-
-
3Gain-
SPAG8-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPATA13p.R896H
Missense
SNP
0.593
2--
SPATA2-
-
-
-
3Gain-
SPATA22p.N194Tfs*30
Frame_Shift_Del
DEL
0.475
2--
SPATA25-
-
-
-
3Gain-
SPATA31A1p.S1009Y
Missense
SNP
0.632
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4p.N780Kfs*6
Frame_Shift_Ins
INS
0.161
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEM1p.L287*
Frame_Shift_Del
DEL
0.532
2--
SPENp.V1907I
Missense
SNP
0.472
2--
SPHKAPp.P802S
Missense
SNP
0.439
2--
SPIC-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPIN1-
-
-
-
3Gain-
SPINK4-
-
-
-
3Gain-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
3Gain-
SPNS2p.G79Afs*91
Frame_Shift_Del
DEL
0.312
2--
SPO11-
-
-
-
3Gain-
SPOCK2-
-
-
-
3Gain-
SPON2p.T209M
Missense
SNP
0.535
2--
SPOUT1-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRN-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTAN1p.R474W
Missense
SNP
0.651
3Gain-
SPTBp.K867N
Missense
SNP
0.498
2--
SPTBN4p.C355Y
Missense
SNP
0.523
2--
SPTLC1-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPX-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRC-
-
-
-
3Gain-
SREBF1p.A1026T
Missense
SNP
0.533
2--
SRGAP1-
-
-
-
3Gain-
SRGAP3p.R585Q
Missense
SNP
0.421
2--
SRGN-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRAp.K170Rfs*33
Frame_Shift_Del
DEL
0.480
2--
SRRM3-
-
-
-
3Gain-
SRRM4p.R184C
Missense
SNP
0.363
3Gain-
SRRT-
-
-
-
3Gain-
SRSF6-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP3p.N49Tfs*95
Frame_Shift_Del
DEL
0.704
2--
SSC4D-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSNA1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSRP1p.R463W
Missense
SNP
0.532
2--
SSTR1p.R336H
Missense
SNP
0.529
2--
SSTR4p.R252C
Missense
SNP
0.613
3Gain-
SSU72p.D50N
Missense
SNP
0.522
2--
SSU72P8-
-
-
-
3Gain-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
ST8SIA6-
-
-
-
3Gain-
STAB1p.E1712Rfs*8
Frame_Shift_Ins
INS
0.294
2--
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
3Gain-
STAR-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT5Bp.R430H
Missense
SNP
0.435
2--
STAT6-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK32C-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK38p.F382Lfs*70
Frame_Shift_Del
DEL
0.508
2--
STK38L-
-
-
-
3Gain-
STK4-
-
-
-
3Gain-
STKLD1-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4p.R205Q
Missense
SNP
0.219
3Gain-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
3Gain-
STOM-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STOX1-
-
-
-
3Gain-
STPG3-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STRBPp.R289*
Nonsense
SNP
0.627
3Gain-
STRIP2-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STXBP1-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUFUp.R224Q
Missense
SNP
0.297
3Gain-
SUGCT-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT5Hp.Y564H
p.R700Q
Missense
Missense
SNP
SNP
0.523
0.429
2--
SUPV3L1-
-
-
-
3Gain-
SURF1-
-
-
-
3Gain-
SURF2p.R28M
Missense
SNP
0.312
3Gain-
SURF4-
-
-
-
3Gain-
SURF6p.R216H
Missense
SNP
0.307
3Gain-
SUSD1-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUV39H2-
-
-
-
3Gain-
SVEP1-
-
-
-
3Gain-
SVIL-
-
-
-
3Gain-
SVOP-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SWI5-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1-
-
-
-
3Gain-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYK-
-
-
-
3Gain-
SYNDIG1-
-
-
-
3Gain-
SYNE1p.A1608V
Missense
SNP
0.562
2--
SYNJ1p.A1046V
Missense
SNP
0.489
2--
SYNPOp.S750N
Missense
SNP
0.722
2--
SYNPO2L-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
SYT15-
-
-
-
3Gain-
SYT4-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TACC1p.K261Qfs*9
Frame_Shift_Ins
INS
0.232
3Gain-
TACC2-
-
-
-
3Gain-
TACR2-
-
-
-
3Gain-
TADA2Bp.V210M
Missense
SNP
0.552
2--
TAF1Bp.S471Afs*28
Frame_Shift_Del
DEL
0.500
2--
TAF1L-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
3Gain-
TAF4p.X588_splice
Splice_Site
SNP
0.573
3Gain-
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TAOK3p.A784V
Missense
SNP
0.268
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TAS1R1p.L75I
p.L649P
Missense
Missense
SNP
SNP
0.519
0.543
2--
TAS1R2p.R226H
Missense
SNP
0.500
2--
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R43-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBATA-
-
-
-
3Gain-
TBC1D12-
-
-
-
3Gain-
TBC1D13-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCEAL4p.A16V
Missense
SNP
0.488
NDND-
TCERG1p.A241_Q242del
In_Frame_Del
DEL
0.175
2--
TCERG1L-
-
-
-
3Gain-
TCF15-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF3p.R609W
Missense
SNP
0.326
2--
TCF4-
-
-
-
3Gain-
TCF7L2-
-
-
-
3Gain-
TCFL5-
-
-
-
3Gain-
TCHP-
-
-
-
3Gain-
TCIM-
-
-
-
3Gain-
TCP11L2p.L308P
Missense
SNP
0.630
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TCTN3-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDRD1-
-
-
-
3Gain-
TDRD7-
-
-
-
3Gain-
TDRP-
-
-
-
3Gain-
TEAD2p.H299Mfs*12
Frame_Shift_Del
DEL
0.527
2--
TEAD4-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TECTB-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TERF1-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESK1-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TET1-
-
-
-
3Gain-
TEX10-
-
-
-
3Gain-
TEX15-
-
-
-
3Gain-
TEX264p.R203W
Missense
SNP
0.500
2--
TEX36-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFAMp.E148Sfs*2
Frame_Shift_Del
DEL
0.632
3Gain-
TFAP2C-
-
-
-
3Gain-
TFCP2p.R257Q
Missense
SNP
0.316
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFBR1-
-
-
-
3Gain-
TGIF1-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1p.R46C
Missense
SNP
0.532
2--
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP2-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP8p.L116Cfs*15
Frame_Shift_Del
DEL
0.463
2--
THAP9p.R152Dfs*5
Frame_Shift_Del
DEL
0.375
2--
THBD-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
3Gain-
THOC1-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THSD7Bp.G987C
Missense
SNP
0.653
2--
TIAL1-
-
-
-
3Gain-
TICAM1p.A568V
Missense
SNP
0.468
2--
TICRRp.R1086*
Nonsense
SNP
0.386
2--
TIE1p.R603H
Missense
SNP
0.455
2--
TIFABp.E143D
Missense
SNP
0.547
2--
TIGAR-
-
-
-
3Gain-
TIGD5-
-
-
-
3Gain-
TIMELESS-
-
-
-
3Gain-
TIMM21-
-
-
-
3Gain-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
3Gain-
TJP2-
-
-
-
3Gain-
TKTL2p.R24Q
Missense
SNP
0.534
2--
TLDC2p.L108I
Missense
SNP
0.714
3Gain-
TLE1-
-
-
-
3Gain-
TLE2p.S250Qfs*30
Frame_Shift_Ins
INS
0.286
2--
TLE4-
-
-
-
3Gain-
TLL2-
-
-
-
3Gain-
TLN1p.R1122W
Missense
SNP
0.769
3Gain-
TLN2p.V1160M
p.E2318K
Missense
Missense
SNP
SNP
0.477
0.370
2--
TLR4-
-
-
-
3Gain-
TLX1-
-
-
-
3Gain-
TM2D2-
-
-
-
3Gain-
TM6SF2p.A201T
p.A107V
Missense
Missense
SNP
SNP
0.489
0.507
2--
TM7SF3-
-
-
-
3Gain-
TM9SF3-
-
-
-
3Gain-
TM9SF4-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMED3p.V153I
Missense
SNP
0.545
2--
TMED4-
-
-
-
3Gain-
TMEFF1-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM131p.D1577G
Missense
SNP
0.550
2--
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132Dp.A56T
Missense
SNP
0.595
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM141-
-
-
-
3Gain-
TMEM155p.S121Ifs*44
Frame_Shift_Del
DEL
0.396
2--
TMEM168p.R258C
Missense
SNP
0.419
3Gain-
TMEM169p.T164M
Missense
SNP
0.528
2--
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM181p.F186L
Missense
SNP
0.568
2--
TMEM184A-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM200Cp.P21Qfs*22
Frame_Shift_Del
DEL
0.309
3Gain-
TMEM203-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM210-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM230-
-
-
-
3Gain-
TMEM231p.S275N
Missense
SNP
0.521
2--
TMEM233-
-
-
-
3Gain-
TMEM236-
-
-
-
3Gain-
TMEM239p.G136S
Missense
SNP
0.595
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM250-
-
-
-
3Gain-
TMEM252-
-
-
-
3Gain-
TMEM254-
-
-
-
3Gain-
TMEM26-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM273-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM8B-
-
-
-
3Gain-
TMEM92p.Y120Tfs*4
Frame_Shift_Del
DEL
0.337
2--
TMOD1-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2p.Q829Tfs*7
Frame_Shift_Ins
INS
0.416
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4p.A463T
Missense
SNP
0.448
2--
TMUB1-
-
-
-
3Gain-
TMX3-
-
-
-
3Gain-
TMX4-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11Ap.P432L
Missense
SNP
0.701
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFSF15-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNK2p.P711Afs*4
Frame_Shift_Ins
INS
0.248
2--
TNKS-
-
-
-
3Gain-
TNKS2-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC18p.A832P
Missense
SNP
0.552
3Gain-
TNRC6Cp.N615Mfs*45
Frame_Shift_Del
DEL
0.463
2--
TNS1p.R1198Q
Missense
SNP
0.426
2--
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXBp.R2992W
Missense
SNP
0.219
2--
TOMM34-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOPORS-
-
-
-
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR4A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TPCN1-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
3Gain-
TPGS2-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPM2-
-
-
-
3Gain-
TPRN-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRAF1-
-
-
-
3Gain-
TRAF2p.R486W
Missense
SNP
0.647
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAPPC8-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRDMT1-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM14-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM28p.R470W
Missense
SNP
0.455
2--
TRIM3p.S74L
Missense
SNP
0.505
2--
TRIM32-
-
-
-
3Gain-
TRIM35-
-
-
-
3Gain-
TRIM36p.R44H
Missense
SNP
0.524
2--
TRIM4-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM8-
-
-
-
3Gain-
TRIOp.R558C
p.L1071P
Missense
Missense
SNP
SNP
0.333
0.492
2--
TRIOBPp.R2039W
Missense
SNP
0.427
2--
TRIP12p.X378_splice
Splice_Site
SNP
0.481
2--
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMO-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT5p.R432W
Missense
SNP
0.460
2--
TRMT6-
-
-
-
3Gain-
TRMT9B-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPM2p.A1278T
Missense
SNP
0.522
2--
TRPM3p.T944M
Missense
SNP
0.302
3Gain-
TRPM6-
-
-
-
3Gain-
TRPS1-
-
-
-
3Gain-
TRPV4-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TRUB1p.K319Nfs*11
Frame_Shift_Del
DEL
0.590
3Gain-
TRUB2-
-
-
-
3Gain-
TSC1-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHZ1-
-
-
-
3Gain-
TSHZ2-
-
-
-
3Gain-
TSNARE1-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN14-
-
-
-
3Gain-
TSPAN15-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSPEARp.R67Afs*3
Frame_Shift_Del
DEL
0.392
2--
TSPYL5-
-
-
-
3Gain-
TSR3p.A294Lfs*28
Frame_Shift_Del
DEL
0.373
2--
TSTA3-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTC13p.L380P
Missense
SNP
0.540
2--
TTC14p.R459C
Missense
SNP
0.182
2--
TTC16p.R86H
Missense
SNP
0.627
3Gain-
TTC26-
-
-
-
3Gain-
TTC30Ap.M601Dfs*5
Frame_Shift_Del
DEL
0.478
2--
TTC37p.Y827*
Nonsense
SNP
0.577
2--
TTC39B-
-
-
-
3Gain-
TTC39Cp.A444V
Missense
SNP
0.660
3Gain-
TTC6p.L540Sfs*19
p.R923H
Frame_Shift_Del
Missense
DEL
SNP
0.560
0.579
2--
TTC7Ap.T733M
Missense
SNP
0.452
2--
TTF1-
-
-
-
3Gain-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTNp.P13097Lfs*12
p.K9807Rfs*5
p.R13727H
p.G5061S
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
DEL
DEL
SNP
SNP
0.484
0.611
0.460
0.456
2--
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBA3Cp.T361Rfs*18
Frame_Shift_Del
DEL
0.429
2--
TUBAL3-
-
-
-
3Gain-
TUBB1-
-
-
-
3Gain-
TUBB4B-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
3Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP4p.R502H
Missense
SNP
0.524
2--
TUBGCP6p.P1371H
p.R793C
Missense
Missense
SNP
SNP
0.455
0.467
2--
TULP3-
-
-
-
3Gain-
TUSC1-
-
-
-
3Gain-
TUSC3-
-
-
-
3Gain-
TUT7-
-
-
-
3Gain-
TVP23Ap.F140Lfs*7
Frame_Shift_Del
DEL
0.452
2--
TWF1-
-
-
-
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWNK-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXN-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNDC8-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4Ap.G128S
Missense
SNP
0.314
3Gain-
TXNRD1-
-
-
-
3Gain-
TYMS-
-
-
-
3Gain-
TYRP1-
-
-
-
3Gain-
TYSND1-
-
-
-
3Gain-
TYW1p.W154*
Nonsense
SNP
0.693
3Gain-
TYW1B-
-
-
-
3Gain-
UAP1L1-
-
-
-
3Gain-
UBA2p.A380T
Missense
SNP
0.510
2--
UBAC1-
-
-
-
3Gain-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBC-
-
-
-
3Gain-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2R2-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBOX5-
-
-
-
3Gain-
UBQLN1-
-
-
-
3Gain-
UBR4p.R142*
Nonsense
SNP
0.599
2--
UBR5-
-
-
-
3Gain-
UBTD1-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UBXN8-
-
-
-
3Gain-
UCK1-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGCG-
-
-
-
3Gain-
UGT1A8p.P264T
Missense
SNP
0.494
2--
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
3Gain-
UHRF2-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13Ap.R1566W
p.R39W
Missense
Missense
SNP
SNP
0.474
0.468
2--
UNC13B-
-
-
-
3Gain-
UNC5B-
-
-
-
3Gain-
UNC5D-
-
-
-
3Gain-
UNC79p.G668Dfs*34
Frame_Shift_Del
DEL
0.456
2--
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UNKp.R123H
Missense
SNP
0.432
2--
UPF2-
-
-
-
3Gain-
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.951
2--
UPK3B-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URM1-
-
-
-
3Gain-
UROS-
-
-
-
3Gain-
USH2Ap.R310Q
Missense
SNP
0.485
2--
USP1p.N662Mfs*2
Frame_Shift_Del
DEL
0.443
2--
USP14-
-
-
-
3Gain-
USP15-
-
-
-
3Gain-
USP2p.X413_splice
Splice_Site
INS
0.340
2--
USP20-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP32p.K274M
Missense
SNP
0.527
2--
USP40p.Q1160Tfs*20
Frame_Shift_Ins
INS
0.265
2--
USP42-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
USP54-
-
-
-
3Gain-
USP6NL-
-
-
-
3Gain-
USP9Xp.E2102K
Missense
SNP
0.446
NDND-
UTF1-
-
-
-
3Gain-
UTP15p.L425*
Frame_Shift_Del
DEL
0.476
2--
UTP20-
-
-
-
3Gain-
UTP23-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VAPA-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VAV2-
-
-
-
3Gain-
VAX1-
-
-
-
3Gain-
VCANp.W1619*
Nonsense
SNP
0.431
2--
VCL-
-
-
-
3Gain-
VCPp.N616Cfs*11
Frame_Shift_Del
DEL
0.384
3Gain-
VCPIP1-
-
-
-
3Gain-
VDAC2-
-
-
-
3Gain-
VDAC3-
-
-
-
3Gain-
VDR-
-
-
-
3Gain-
VENTX-
-
-
-
3Gain-
VEZF1p.V470I
Missense
SNP
0.506
2--
VEZT-
-
-
-
3Gain-
VGFp.P226R
Missense
SNP
0.310
3Gain-
VIM-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS13Ap.I1709Nfs*6
p.R161H
Frame_Shift_Ins
Missense
INS
SNP
0.236
0.343
3Gain-
VPS13B-
-
-
-
3Gain-
VPS13Dp.R72H
Missense
SNP
0.402
2--
VPS16p.R321H
Missense
SNP
0.337
3Gain-
VPS18p.A889V
Missense
SNP
0.482
2--
VPS26A-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS35p.S179Y
Missense
SNP
0.495
2--
VPS37A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS4B-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS51p.A416V
p.V609M
Missense
Missense
SNP
SNP
0.519
0.347
2--
VPS8p.Q877H
Missense
SNP
0.438
2--
VSIG10-
-
-
-
3Gain-
VSIG4p.A371T
Missense
SNP
0.490
NDND-
VSIR-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2L-
-
-
-
3Gain-
VSTM4-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VSX2p.A52V
Missense
SNP
0.577
2--
VTI1A-
-
-
-
3Gain-
VWA2-
-
-
-
3Gain-
VWC2p.R240H
Missense
SNP
0.071
3Gain-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
3Gain-
WASHC2A-
-
-
-
3Gain-
WASHC2C-
-
-
-
3Gain-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11p.G521Wfs*28
Frame_Shift_Ins
INS
0.363
3Gain-
WBP1L-
-
-
-
3Gain-
WDFY4-
-
-
-
3Gain-
WDR11-
-
-
-
3Gain-
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR38-
-
-
-
3Gain-
WDR44p.X425_splice
Splice_Site
SNP
0.483
NDND-
WDR47p.V693I
Missense
SNP
0.466
2--
WDR5-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR7-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDTC1p.E290Tfs*6
p.V621M
Frame_Shift_Del
Missense
DEL
SNP
0.493
0.507
2--
WDYHV1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3p.R66*
Nonsense
SNP
0.714
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1p.R161C
Missense
SNP
0.359
3Gain-
WISP2-
-
-
-
3Gain-
WISP3p.K226Nfs*24
Frame_Shift_Del
DEL
0.380
2--
WIZp.R234W
Missense
SNP
0.490
2--
WNK1p.P743T
Missense
SNP
0.348
3Gain-
WNK2-
-
-
-
3Gain-
WNK3p.S649P
p.A403S
Missense
Missense
SNP
SNP
0.553
0.450
NDND-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2p.S95N
Missense
SNP
0.357
3Gain-
WNT4p.K107Q
Missense
SNP
0.414
2--
WNT5B-
-
-
-
3Gain-
WNT6p.D289N
Missense
SNP
0.496
2--
WNT8B-
-
-
-
3Gain-
WRN-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD1p.R76Q
Missense
SNP
0.449
2--
WSCD2-
-
-
-
3Gain-
WWC2p.M206Cfs*17
p.R380Q
Frame_Shift_Del
Missense
DEL
SNP
0.492
0.507
2--
WWP1-
-
-
-
3Gain-
XIRP2p.N1589T
Missense
SNP
0.484
2--
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR7-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPA-
-
-
-
3Gain-
XPNPEP1-
-
-
-
3Gain-
XPO7-
-
-
-
3Gain-
XPOT-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRN2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YLPM1p.G1063D
Missense
SNP
0.462
2--
YME1L1-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
Z98752.3-
-
-
-
3Gain-
ZADH2-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBP1-
-
-
-
3Gain-
ZBTB1p.K524Sfs*25
Frame_Shift_Del
DEL
0.434
2--
ZBTB10-
-
-
-
3Gain-
ZBTB14p.R30H
Missense
SNP
0.277
3Gain-
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB38p.R917C
Missense
SNP
0.432
2--
ZBTB39-
-
-
-
3Gain-
ZBTB41p.I360Yfs*14
Frame_Shift_Del
DEL
0.476
2--
ZBTB43-
-
-
-
3Gain-
ZBTB46p.G517D
Missense
SNP
0.323
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7Ap.A559V
Missense
SNP
0.500
2--
ZBTB7C-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H10-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZCCHC24-
-
-
-
3Gain-
ZCCHC3-
-
-
-
3Gain-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCRB1p.K140Rfs*13
Frame_Shift_Del
DEL
0.254
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZDHHC12-
-
-
-
3Gain-
ZDHHC16-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18p.P367L
Missense
SNP
0.503
2--
ZDHHC2-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5p.L657S
Missense
SNP
0.478
2--
ZDHHC6-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFAND5-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX4p.L411Cfs*4
p.P2057Hfs*26
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.271
0.333
3Gain-
ZFP36L2p.A229Rfs*245
p.G144Afs*43
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.305
0.448
2--
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFPM1p.G184Dfs*3
Frame_Shift_Del
DEL
0.333
2--
ZFPM2-
-
-
-
3Gain-
ZFYVE27-
-
-
-
3Gain-
ZGPAT-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZKSCAN1p.G156R
Missense
SNP
0.608
3Gain-
ZKSCAN2p.A166V
Missense
SNP
0.438
2--
ZKSCAN5-
-
-
-
3Gain-
ZMAT4-
-
-
-
3Gain-
ZMIZ1-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMYM3p.L85Afs*4
p.P48Lfs*65
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.319
0.441
NDND-
ZMYM6p.N724Mfs*15
Frame_Shift_Del
DEL
0.429
2--
ZMYND11-
-
-
-
3Gain-
ZMYND19-
-
-
-
3Gain-
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.649
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF133-
-
-
-
3Gain-
ZNF134p.E208K
Missense
SNP
0.306
2--
ZNF138-
-
-
-
3Gain-
ZNF140-
-
-
-
3Gain-
ZNF157p.K53N
Missense
SNP
0.523
NDND-
ZNF16-
-
-
-
3Gain-
ZNF169-
-
-
-
3Gain-
ZNF189-
-
-
-
3Gain-
ZNF205p.A493V
Missense
SNP
0.543
2--
ZNF212-
-
-
-
3Gain-
ZNF213p.W228C
Missense
SNP
0.312
2--
ZNF217-
-
-
-
3Gain-
ZNF22-
-
-
-
3Gain-
ZNF236-
-
-
-
3Gain-
ZNF239-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3p.T99Rfs*4
Frame_Shift_Del
DEL
0.607
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF32-
-
-
-
3Gain-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF347p.G632V
Missense
SNP
0.382
2--
ZNF365-
-
-
-
3Gain-
ZNF367-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF384p.P517S
Missense
SNP
0.327
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF395-
-
-
-
3Gain-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF433p.K481N
Missense
SNP
0.500
2--
ZNF438-
-
-
-
3Gain-
ZNF441p.P418S
Missense
SNP
0.531
2--
ZNF460p.P447L
Missense
SNP
0.694
2--
ZNF462-
-
-
-
3Gain-
ZNF467p.A579T
Missense
SNP
0.750
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF485-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF492p.D89G
Missense
SNP
0.417
2--
ZNF503-
-
-
-
3Gain-
ZNF510-
-
-
-
3Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF512B-
-
-
-
3Gain-
ZNF516p.A107T
Missense
SNP
0.310
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF518A-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF532p.R421Gfs*9
Frame_Shift_Del
DEL
0.593
3Gain-
ZNF552p.S172N
Missense
SNP
0.498
2--
ZNF567p.H253Tfs*5
Frame_Shift_Ins
INS
0.329
2--
ZNF572-
-
-
-
3Gain-
ZNF596-
-
-
-
3Gain-
ZNF605-
-
-
-
3Gain-
ZNF615p.G361R
Missense
SNP
0.541
2--
ZNF616p.T209Rfs*8
Frame_Shift_Del
DEL
0.411
2--
ZNF618-
-
-
-
3Gain-
ZNF623-
-
-
-
3Gain-
ZNF641-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF658-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF687p.E930del
In_Frame_Del
DEL
0.400
2--
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF703p.A472T
Missense
SNP
0.646
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF71p.R107H
Missense
SNP
0.478
2--
ZNF710p.R386C
Missense
SNP
0.574
2--
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74p.K442M
p.A447T
Missense
Missense
SNP
SNP
0.448
0.541
2--
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777p.R566C
Missense
SNP
0.601
3Gain-
ZNF782-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786p.R377C
Missense
SNP
0.296
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF792p.T222I
Missense
SNP
0.494
2--
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF813p.S108N
Missense
SNP
0.463
2--
ZNF814p.K350Nfs*121
Frame_Shift_Del
DEL
0.237
2--
ZNF831-
-
-
-
3Gain-
ZNF84-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF865p.A462T
p.S672L
Missense
Missense
SNP
SNP
0.625
0.531
2--
ZNF880p.A332T
Missense
SNP
0.440
2--
ZNF883-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNFX1-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZRANB1-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN30-
-
-
-
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM4p.R679Q
Missense
SNP
0.467
2--
ZSWIM8-
-
-
-
3Gain-
ZWINT-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-