PDMR-558786~286-R~FJ2D10-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
4Gain-
AARD-
-
-
-
3Gain-
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.387
2--
ABCB6p.G318Vfs*9
Frame_Shift_Del
DEL
0.442
2--
ABCC10p.Q369*
Nonsense
SNP
0.550
2--
ABCC2-
-
-
-
4Gain-
ABCG8p.T401M
Missense
SNP
0.468
2--
ABHD3-
-
-
-
3Gain-
ABI1-
-
-
-
4Gain-
ABLIM1-
-
-
-
4Gain-
ABRA-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
4Gain-
AC007998.2-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC022400.6-
-
-
-
4Gain-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
3Gain-
AC067752.1-
-
-
-
4Gain-
AC068896.1-
-
-
-
4Gain-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC093512.2-
-
-
-
2-LRRC23--AC093512.2
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC107959.5-
-
-
-
3Gain-
AC110275.1-
-
-
-
3Gain-
AC124312.3-
-
-
-
NDNDPSEN1--AC124312.3
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
3Gain-
ACAA2-
-
-
-
3Gain-
ACAD11p.R127Q
Missense
SNP
0.430
2--
ACADSB-
-
-
-
4Gain-
ACBD5-
-
-
-
4Gain-
ACBD7-
-
-
-
4Gain-
ACSL5-
-
-
-
4Gain-
ACSM6-
-
-
-
4Gain-
ACTA2-
-
-
-
4Gain-
ACTBp.P332S
Missense
SNP
0.426
2--
ACTR1A-
-
-
-
4Gain-
ACTR2p.R354C
Missense
SNP
0.358
2--
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.379
2--
ADAM12-
-
-
-
4Gain-
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM20p.R103Qfs*12
Frame_Shift_Ins
INS
0.247
2--
ADAM21p.V339M
Missense
SNP
0.437
2--
ADAM28-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM8-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS14-
-
-
-
4Gain-
ADARB2-
-
-
-
4Gain-
ADCK5-
-
-
-
3Gain-
ADCY5p.D192_S193del
In_Frame_Del
DEL
0.291
2--
ADCY8-
-
-
-
3Gain-
ADCYAP1p.X37_splice
Splice_Site
SNP
0.353
3Gain-
ADD2p.R134Q
Missense
SNP
0.326
2--
ADD3p.R434C
Missense
SNP
0.707
4Gain-
ADGRA1-
-
-
-
3Gain-
ADGRA2-
-
-
-
3Gain-
ADGRB1-
-
-
-
3Gain-
ADGRF5p.Y1113H
Missense
SNP
0.450
2--
ADGRL3p.V963Cfs*39
Frame_Shift_Del
DEL
0.440
2--
ADHFE1-
-
-
-
3Gain-
ADIRF-
-
-
-
4Gain-
ADK-
-
-
-
4Gain-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
4Gain-
ADRA1A-
-
-
-
3Gain-
ADRA2A-
-
-
-
4Gain-
ADRB1-
-
-
-
4Gain-
ADRB3-
-
-
-
3Gain-
AEBP1p.Q255Afs*21
Frame_Shift_Ins
INS
0.349
2--
AFAP1L2-
-
-
-
4Gain-
AFG3L2-
-
-
-
3Gain-
AFMIDp.G71S
Missense
SNP
0.528
2--
AGAP2p.V630M
Missense
SNP
0.400
2--
AGAP4-
-
-
-
3Gain-
AGAP5-
-
-
-
4Gain-
AGAP6-
-
-
-
4Gain-
AGAP9-
-
-
-
3Gain-
AGLp.N1304Kfs*7
Frame_Shift_Ins
INS
0.345
2--
AGO1p.L17Cfs*99
Frame_Shift_Del
DEL
0.444
2--
AGO2-
-
-
-
3Gain-
AGPAT5-
-
-
-
3Gain-
AIF1p.P137H
Missense
SNP
0.433
2--
AIFM2-
-
-
-
4Gain-
AIFM3p.V462M
Missense
SNP
0.462
2--
AIM1p.P734L
Missense
SNP
0.445
NDND-
AKAIN1-
-
-
-
3Gain-
AKAP9p.K39Rfs*17
p.V3673A
Frame_Shift_Del
Missense
DEL
SNP
0.447
0.389
2--
AKR1B1p.A209T
Missense
SNP
0.487
2--
AKR1C1-
-
-
-
4Gain-
AKR1C2-
-
-
-
4Gain-
AKR1C3-
-
-
-
4Gain-
AKR1C4-
-
-
-
4Gain-
AKR1C8P-
-
-
-
4Gain-
AKR1E2-
-
-
-
4Gain-
AL117339.5-
-
-
-
4Gain-
AL133352.1-
-
-
-
4Gain-
AL133353.2-
-
-
-
4Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--TUBB4B
AL157392.5-
-
-
-
4Gain-
AL355315.1-
-
-
-
4Gain-
AL356053.1p.I188*
Frame_Shift_Del
DEL
0.118
NDND-
AL360181.3-
-
-
-
3Gain-
AL365273.2-
-
-
-
4Gain-
AL583836.1-
-
-
-
4Gain-
ALDH18A1-
-
-
-
4Gain-
ALDH1A2p.R85C
Missense
SNP
0.474
2--
ALDH3B2p.L213M
Missense
SNP
0.582
2--
ALDOCp.R22Q
Missense
SNP
0.542
2--
ALKAL1-
-
-
-
3Gain-
ALKBH4p.C267Y
Missense
SNP
0.509
2--
ALOX5-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
ALS2CR11p.N837Ifs*9
Frame_Shift_Del
DEL
0.411
NDND-
AMTp.L155I
Missense
SNP
0.513
2--
ANAPC16-
-
-
-
4Gain-
ANGPT1-
-
-
-
3Gain-
ANGPT2p.I234*
Frame_Shift_Del
DEL
0.590
3Gain-
ANK1-
-
-
-
3Gain-
ANK2p.A1819V
Missense
SNP
0.485
2--
ANK3-
-
-
-
4Gain-
ANKFN1p.R763K
Missense
SNP
0.391
2--
ANKRD1-
-
-
-
4Gain-
ANKRD11p.A2265Pfs*72
Frame_Shift_Del
DEL
0.523
2--
ANKRD12-
-
-
-
3Gain-
ANKRD16-
-
-
-
4Gain-
ANKRD2-
-
-
-
4Gain-
ANKRD22-
-
-
-
4Gain-
ANKRD26-
-
-
-
4Gain-
ANKRD27p.H464Y
Missense
SNP
0.388
2--
ANKRD29-
-
-
-
3Gain-
ANKRD30A-
-
-
-
4Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD31p.G512Vfs*20
Frame_Shift_Del
DEL
0.618
2--
ANKRD46-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKS3p.R550H
Missense
SNP
0.472
2--
ANO4p.A294V
Missense
SNP
0.366
2--
ANO6p.V698I
Missense
SNP
0.330
2--
ANTXRL-
-
-
-
3Gain-
ANXA11-
-
-
-
4Gain-
ANXA13-
-
-
-
3Gain-
ANXA7-
-
-
-
4Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
AOC1p.R190Gfs*18
Frame_Shift_Del
DEL
0.447
2--
AP1G1p.R8W
Missense
SNP
0.383
2--
AP2A2p.P670Lfs*67
p.A376T
Frame_Shift_Del
Missense
DEL
SNP
0.762
0.512
2--
AP3M1-
-
-
-
4Gain-
AP3M2-
-
-
-
3Gain-
APBB1IP-
-
-
-
4Gain-
APCp.E902K
p.P1604L
Missense
Missense
SNP
SNP
0.463
0.435
2--
APCDD1-
-
-
-
3Gain-
APOBRp.G267C
Missense
SNP
0.438
2--
APOL2p.R87Q
Missense
SNP
0.407
2--
AQP2p.T125M
Missense
SNP
0.533
2--
AQP4-
-
-
-
3Gain-
ARAP2p.A469T
p.G250*
Missense
Nonsense
SNP
SNP
0.476
0.479
2--
ARC-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARGLU1p.R45H
p.A186T
Missense
Missense
SNP
SNP
0.435
0.405
2--
ARHGAP12-
-
-
-
4Gain-
ARHGAP19-
-
-
-
4Gain-
ARHGAP19-SLIT1-
-
-
-
4Gain-
ARHGAP21-
-
-
-
4Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP39p.V443I
Missense
SNP
0.330
3Gain-
ARHGAP6p.G745R
p.R433Q
Missense
Missense
SNP
SNP
0.408
0.447
NDND-
ARHGEF1p.D382N
Missense
SNP
0.486
2--
ARHGEF10-
-
-
-
3Gain-
ARHGEF10Lp.T495M
Missense
SNP
0.373
2--
ARHGEF40p.R1076Gfs*18
Frame_Shift_Del
DEL
0.457
2--
ARID1Ap.P1175Hfs*5
p.D1850Gfs*4
p.X751_splice
Frame_Shift_Del
Frame_Shift_Ins
Splice_Site
DEL
INS
SNP
0.580
0.258
0.485
2--
ARID1Bp.Q1810*
Nonsense
SNP
0.412
2--
ARID3Ap.X499_splice
Splice_Site
SNP
0.559
2--
ARID4Bp.Q1041*
Nonsense
SNP
0.471
2--
ARID5B-
-
-
-
4Gain-
ARL2p.R78Q
Missense
SNP
0.494
2--
ARL3-
-
-
-
4Gain-
ARL5B-
-
-
-
4Gain-
ARMC1-
-
-
-
3Gain-
ARMC3-
-
-
-
4Gain-
ARMC4-
-
-
-
4Gain-
ARMC9p.G2R
Missense
SNP
0.424
2--
ARMH3-
-
-
-
4Gain-
ARMS2-
-
-
-
4Gain-
AS3MT-
-
-
-
4Gain-
ASAH1-
-
-
-
3Gain-
ASAH2-
-
-
-
4Gain-
ASAH2B-
-
-
-
4Gain-
ASAP1-
-
-
-
3Gain-
ASB13-
-
-
-
4Gain-
ASCC1-
-
-
-
4Gain-
ASH1Lp.I1341N
Missense
SNP
0.497
2--
ASH2L-
-
-
-
3Gain-
ASPH-
-
-
-
3Gain-
ASXL3-
-
-
-
3Gain-
ATAD1-
-
-
-
4Gain-
ATAD2-
-
-
-
3Gain-
ATE1-
-
-
-
4Gain-
ATOH7-
-
-
-
4Gain-
ATP10Ap.T1205Pfs*4
Frame_Shift_Del
DEL
0.571
2--
ATP5F1A-
-
-
-
3Gain-
ATP5F1C-
-
-
-
4Gain-
ATP5MD-
-
-
-
4Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1Dp.R30Q
Missense
SNP
0.487
2--
ATP6V1H-
-
-
-
3Gain-
ATP8A1p.R725H
Missense
SNP
0.478
2--
ATP8A2p.V506M
Missense
SNP
0.454
2--
ATP8B1-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATRNL1-
-
-
-
4Gain-
AVILp.G118Vfs*6
p.T480M
Frame_Shift_Del
Missense
DEL
SNP
0.403
0.592
2--
AVL9p.G397A
Missense
SNP
0.401
2--
AVPI1-
-
-
-
4Gain-
AZIN1-
-
-
-
3Gain-
B3GNT6p.G221D
Missense
SNP
0.474
2--
B4GALNT4p.T982M
Missense
SNP
0.451
2--
B4GALT6-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BAG3-
-
-
-
4Gain-
BAG4-
-
-
-
3Gain-
BAHCC1p.G1603R
Missense
SNP
0.528
2--
BAIAP2L2p.V396M
Missense
SNP
0.557
2--
BAIAP3p.R785W
Missense
SNP
0.443
2--
BAMBI-
-
-
-
4Gain-
BANPp.A232T
Missense
SNP
0.351
2--
BBIP1-
-
-
-
4Gain-
BCAS3p.G891Efs*76
Frame_Shift_Del
DEL
0.491
2--
BCCIP-
-
-
-
4Gain-
BCHEp.N134Mfs*5
Frame_Shift_Del
DEL
0.942
2--
BCKDHAp.T211M
Missense
SNP
0.493
2--
BCL2-
-
-
-
3Gain-
BCL9Lp.P1127Hfs*21
p.A77Gfs*14
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.283
0.292
2--
BCRp.R232W
Missense
SNP
0.484
2--
BEND3p.P494Rfs*46
Frame_Shift_Del
DEL
0.451
2--
BEND7-
-
-
-
4Gain-
BHLHE22-
-
-
-
3Gain-
BICC1-
-
-
-
4Gain-
BIN3-
-
-
-
3Gain-
BIRC7p.Q54*
Nonsense
SNP
0.383
2--
BLK-
-
-
-
3Gain-
BLNK-
-
-
-
4Gain-
BLOC1S2-
-
-
-
4Gain-
BMI1-
-
-
-
4Gain-
BMP1-
-
-
-
3Gain-
BMPR1A-
-
-
-
4Gain-
BMS1-
-
-
-
3Gain-
BNIP3-
-
-
-
3Gain-
BNIP3L-
-
-
-
3Gain-
BOD1L1p.E2153K
Missense
SNP
0.440
2--
BOD1L2-
-
-
-
3Gain-
BOP1-
-
-
-
3Gain-
BORCS7-
-
-
-
4Gain-
BORCS7-ASMT-
-
-
-
4Gain-
BPIFB4p.V74Sfs*9
p.R289W
Frame_Shift_Ins
Missense
INS
SNP
0.293
0.443
2--
BRD4p.R444C
Missense
SNP
0.393
2--
BRF2-
-
-
-
3Gain-
BRPF1p.Q938Sfs*5
Frame_Shift_Del
DEL
0.400
2--
BRSK1p.R379Gfs*9
Frame_Shift_Del
DEL
0.402
2--
BTAF1-
-
-
-
4Gain-
BTBD16-
-
-
-
4Gain-
BTRC-
-
-
-
4Gain-
BUB3-
-
-
-
4Gain-
C10orf105-
-
-
-
4Gain-
C10orf113-
-
-
-
4Gain-
C10orf120-
-
-
-
4Gain-
C10orf53-
-
-
-
4Gain-
C10orf55-
-
-
-
4Gain-
C10orf62-
-
-
-
4Gain-
C10orf67-
-
-
-
4Gain-
C10orf71-
-
-
-
3Gain-
C10orf82-
-
-
-
4Gain-
C10orf88-
-
-
-
4Gain-
C10orf90-
-
-
-
4Gain-
C10orf99-
-
-
-
4Gain-
C17orf74p.P442Rfs*25
Frame_Shift_Del
DEL
0.385
NDND-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C18orf8p.C394Hfs*4
Frame_Shift_Del
DEL
0.521
NDND-
C1Dp.N120Mfs*61
Frame_Shift_Del
DEL
0.481
2--
C1QBp.C31Y
Missense
SNP
0.534
2--
C1QL3p.R180H
Missense
SNP
0.240
4Gain-
C21orf58p.T203M
Missense
SNP
0.449
2--
C2CD5p.R183H
Missense
SNP
0.447
2--
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.188
2--
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-
C9orf66p.H283Pfs*22
Frame_Shift_Ins
INS
0.281
2--
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CABCOCO1-
-
-
-
4Gain-
CABIN1p.G1834Afs*72
Frame_Shift_Del
DEL
0.375
2--
CABLES1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1Ep.R1594H
Missense
SNP
0.449
2--
CACNA1Ip.P665L
Missense
SNP
0.358
2--
CACNB2p.T254M
p.R608H
Missense
Missense
SNP
SNP
0.249
0.758
4Gain-
CACUL1-
-
-
-
4Gain-
CADp.R2064C
Missense
SNP
0.383
2--
CALB1-
-
-
-
3Gain-
CALCRLp.F16Lfs*2
Frame_Shift_Del
DEL
0.475
2--
CALHM1-
-
-
-
4Gain-
CALHM2-
-
-
-
4Gain-
CALHM3-
-
-
-
4Gain-
CALML3-
-
-
-
4Gain-
CALML5-
-
-
-
4Gain-
CALY-
-
-
-
3Gain-
CAMK1D-
-
-
-
4Gain-
CAMK2G-
-
-
-
4Gain-
CAMKK1p.R510*
Nonsense
SNP
0.605
2--
CAMSAP2p.R1179W
Missense
SNP
0.481
2--
CAMTA2p.P889Lfs*9
p.P547L
Frame_Shift_Del
Missense
DEL
SNP
0.464
0.502
2--
CANXp.R274H
Missense
SNP
0.510
2--
CARD14p.E929K
Missense
SNP
0.518
2--
CARSp.R453L
Missense
SNP
0.485
2--
CASC1p.I554M
Missense
SNP
0.511
2--
CASC10-
-
-
-
4Gain-
CASP7-
-
-
-
4Gain-
CASRp.R220W
Missense
SNP
0.483
2--
CASS4p.R67H
Missense
SNP
0.420
2--
CASZ1p.T715M
Missense
SNP
0.447
2--
CATIPp.A255T
Missense
SNP
0.520
2--
CBFA2T2p.E402D
Missense
SNP
0.651
2--
CBLN2-
-
-
-
3Gain-
CC2D2B-
-
-
-
4Gain-
CCAR1p.Q596*
Nonsense
SNP
0.094
4Gain-
CCAR2-
-
-
-
3Gain-
CCBE1p.V92I
Missense
SNP
0.394
3Gain-
CCDC102Bp.I270Nfs*31
Frame_Shift_Ins
INS
0.398
3Gain-
CCDC150p.S317Y
p.R971Q
Missense
Missense
SNP
SNP
0.550
0.508
2--
CCDC166-
-
-
-
3Gain-
CCDC168p.Q3471Tfs*12
p.N2569Kfs*26
Frame_Shift_Ins
Frame_Shift_Ins
INS
INS
0.292
0.280
2--
CCDC172-
-
-
-
4Gain-
CCDC178-
-
-
-
3Gain-
CCDC186-
-
-
-
4Gain-
CCDC191p.E82D
Missense
SNP
0.533
2--
CCDC25-
-
-
-
3Gain-
CCDC3-
-
-
-
4Gain-
CCDC6-
-
-
-
4Gain-
CCDC68-
-
-
-
3Gain-
CCDC7-
-
-
-
4Gain-
CCDC74B-
-
-
-
1Loss-
CCDC83p.I184T
Missense
SNP
0.628
2--
CCDC96p.R524H
Missense
SNP
0.480
2--
CCER2p.E232del
In_Frame_Del
DEL
0.410
2--
CCNE2-
-
-
-
3Gain-
CCNJ-
-
-
-
4Gain-
CCNY-
-
-
-
4Gain-
CCSER1p.F428Lfs*29
Frame_Shift_Del
DEL
0.241
2--
CCSER2-
-
-
-
4Gain-
CCT2p.R376C
Missense
SNP
0.536
2--
CD163L1p.P890L
Missense
SNP
0.434
2--
CD19p.X120_splice
Splice_Site
DEL
0.515
2--
CD226-
-
-
-
3Gain-
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.406
2--
CDC123-
-
-
-
4Gain-
CDC42EP4p.V144M
Missense
SNP
0.436
2--
CDCA2-
-
-
-
3Gain-
CDH10p.E641Sfs*3
Frame_Shift_Del
DEL
0.325
2--
CDH17p.S645Lfs*3
Frame_Shift_Del
DEL
0.350
3Gain-
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH23-
-
-
-
4Gain-
CDH7p.R264Q
p.G393E
Missense
Missense
SNP
SNP
0.636
0.220
3Gain-
CDHR1-
-
-
-
4Gain-
CDK1-
-
-
-
4Gain-
CDK19p.S62L
Missense
SNP
0.471
2--
CDKN2Bp.L93Pfs*70
Frame_Shift_Ins
INS
0.270
2--
CDNF-
-
-
-
4Gain-
CDS1p.F263Lfs*6
Frame_Shift_Del
DEL
0.513
2--
CEBPD-
-
-
-
3Gain-
CELF2-
-
-
-
4Gain-
CELF3p.V279I
Missense
SNP
0.405
2--
CELF4-
-
-
-
3Gain-
CELSR2p.A1152V
Missense
SNP
0.422
2--
CELSR3p.R1336H
Missense
SNP
0.455
2--
CEP192p.R763C
Missense
SNP
0.349
3Gain-
CEP250p.V728I
Missense
SNP
0.534
2--
CEP55-
-
-
-
4Gain-
CEP76-
-
-
-
3Gain-
CEP85p.T746I
Missense
SNP
0.543
2--
CETN1-
-
-
-
3Gain-
CFAP43-
-
-
-
4Gain-
CFAP45p.R403H
Missense
SNP
0.549
2--
CFAP46-
-
-
-
3Gain-
CFAP53p.F148L
Missense
SNP
0.659
3Gain-
CFAP58-
-
-
-
4Gain-
CFAP70-
-
-
-
4Gain-
CFTRp.G1047D
Missense
SNP
0.490
2--
CH25H-
-
-
-
4Gain-
CH507-42P11.8p.R587Q
Missense
SNP
0.534
NDND-
CHAT-
-
-
-
4Gain-
CHCHD1-
-
-
-
4Gain-
CHCHD7-
-
-
-
3Gain-
CHD7p.T1133M
Missense
SNP
0.603
3Gain-
CHIAp.Q62*
Nonsense
SNP
0.465
2--
CHMP1B-
-
-
-
3Gain-
CHMP2Ap.C173G
Missense
SNP
0.455
2--
CHMP4C-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRNA2-
-
-
-
3Gain-
CHRNA6p.R363S
p.Y220C
Missense
Missense
SNP
SNP
0.325
0.642
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRNDp.R244H
Missense
SNP
0.323
2--
CHST15-
-
-
-
4Gain-
CHST3-
-
-
-
4Gain-
CHST5p.A150V
Missense
SNP
0.554
2--
CHST9-
-
-
-
3Gain-
CHSY3p.T772Dfs*18
Frame_Shift_Ins
INS
0.289
2--
CHUK-
-
-
-
4Gain-
CIDEA-
-
-
-
3Gain-
CILP2p.R336*
Nonsense
SNP
0.500
2--
CISD1-
-
-
-
4Gain-
CLDN23-
-
-
-
3Gain-
CLDN6p.A102T
Missense
SNP
0.550
2--
CLN8-
-
-
-
3Gain-
CLOCKp.L123*
Frame_Shift_Del
DEL
0.465
2--
CLP1p.R302H
Missense
SNP
0.442
2--
CLRN3-
-
-
-
4Gain-
CLSTN3p.A640T
Missense
SNP
0.389
2--
CLU-
-
-
-
3Gain-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNGA4p.G96D
Missense
SNP
0.440
2--
CNGB3-
-
-
-
3Gain-
CNNM1-
-
-
-
4Gain-
CNNM2-
-
-
-
4Gain-
CNOT1p.R1929*
Nonsense
SNP
0.461
2--
CNOT10p.X754_splice
Splice_Site
SNP
0.440
2--
CNOT7-
-
-
-
3Gain-
COG3p.V465I
Missense
SNP
0.521
2--
COL11A1p.V1658I
Missense
SNP
0.484
2--
COL13A1-
-
-
-
4Gain-
COL14A1p.R846H
Missense
SNP
0.622
3Gain-
COL17A1p.R177Q
Missense
SNP
0.331
4Gain-
COL18A1p.P772Qfs*16
Frame_Shift_Del
DEL
0.397
2--
COL21A1p.G632Rfs*24
Frame_Shift_Ins
INS
0.283
2--
COL22A1p.P727L
Missense
SNP
0.711
3Gain-
COL3A1p.K275Rfs*9
Frame_Shift_Del
DEL
0.426
2--
COL6A2p.R734C
Missense
SNP
0.500
2--
COL6A3p.V1771Sfs*8
Frame_Shift_Del
DEL
0.442
2--
COL6A6p.E1487G
Missense
SNP
0.511
2--
COL8A2p.P94Lfs*143
Frame_Shift_Del
DEL
0.444
2--
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
3Gain-
COMMD3-
-
-
-
4Gain-
COMMD3-BMI1-
-
-
-
4Gain-
COMMD5-
-
-
-
3Gain-
COMPp.P416L
Missense
SNP
0.513
2--
COMTD1-
-
-
-
4Gain-
COPS5-
-
-
-
3Gain-
COQ6p.P373L
Missense
SNP
0.450
2--
CORO7p.S433I
Missense
SNP
0.625
2--
COX15-
-
-
-
4Gain-
COX6C-
-
-
-
3Gain-
CPA6p.L310I
Missense
SNP
0.327
3Gain-
CPAMD8p.V1068Wfs*111
Frame_Shift_Del
DEL
0.549
2--
CPEB3-
-
-
-
4Gain-
CPLX4-
-
-
-
3Gain-
CPN1-
-
-
-
4Gain-
CPNE3-
-
-
-
3Gain-
CPNE8p.V396Sfs*9
Frame_Shift_Del
DEL
0.367
2--
CPQ-
-
-
-
3Gain-
CPS1p.K133N
Missense
SNP
0.565
2--
CPSF1-
-
-
-
3Gain-
CPSF3p.E31K
Missense
SNP
0.650
2--
CPSF4p.R238W
Missense
SNP
0.377
2--
CPSF6p.V156Cfs*6
Frame_Shift_Ins
INS
0.333
2--
CPXM2-
-
-
-
4Gain-
CRAMP1p.R344H
Missense
SNP
0.405
2--
CREBBPp.G101V
Missense
SNP
0.516
2--
CREM-
-
-
-
4Gain-
CRH-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRTAC1-
-
-
-
4Gain-
CRY2p.R362H
Missense
SNP
0.503
2--
CSGALNACT1-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
3Gain-
CSMD1-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CSNK1Ep.T235M
Missense
SNP
0.430
2--
CSPP1-
-
-
-
3Gain-
CSRNP1p.G476D
Missense
SNP
0.550
2--
CSRP3p.R100H
Missense
SNP
0.494
2--
CST2p.R46H
Missense
SNP
0.564
2--
CSTF2T-
-
-
-
4Gain-
CTAGE1-
-
-
-
3Gain-
CTBP2p.A602T
Missense
SNP
0.316
4Gain-
CTDP1-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTNNA3-
-
-
-
4Gain-
CTNND1p.R274H
Missense
SNP
0.461
2--
CTNND2p.P524L
Missense
SNP
0.449
2--
CTSB-
-
-
-
3Gain-
CTSFp.V474M
Missense
SNP
0.429
2--
CUBNp.R3117H
Missense
SNP
0.228
4Gain-
CUEDC2-
-
-
-
4Gain-
CUL2-
-
-
-
4Gain-
CUL3p.R128H
Missense
SNP
0.424
2--
CUTC-
-
-
-
4Gain-
CUZD1-
-
-
-
4Gain-
CWC27p.V335*
Frame_Shift_Del
DEL
0.388
2--
CWF19L1-
-
-
-
4Gain-
CXCL12-
-
-
-
3Gain-
CXorf56p.A62V
Missense
SNP
0.385
NDND-
CXXC1-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP17A1-
-
-
-
4Gain-
CYP26A1-
-
-
-
4Gain-
CYP26C1-
-
-
-
4Gain-
CYP2C18-
-
-
-
4Gain-
CYP2C19-
-
-
-
4Gain-
CYP2C8-
-
-
-
4Gain-
CYP2C9-
-
-
-
4Gain-
CYP2E1-
-
-
-
3Gain-
CYP4F8p.L385P
Missense
SNP
0.434
2--
CYP7A1-
-
-
-
3Gain-
CYP7B1p.N131Ifs*4
Frame_Shift_Del
DEL
0.310
3Gain-
DBF4p.L409Afs*14
Frame_Shift_Ins
INS
0.293
2--
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCC-
-
-
-
3Gain-
DCHS1p.R2892Q
p.G2097D
Missense
Missense
SNP
SNP
0.444
0.444
2--
DCHS2p.S968R
Missense
SNP
0.375
2--
DCLRE1A-
-
-
-
4Gain-
DCLRE1C-
-
-
-
4Gain-
DCNp.T151Nfs*9
Frame_Shift_Ins
INS
0.349
2--
DCSTAMP-
-
-
-
3Gain-
DCTN6-
-
-
-
3Gain-
DDHD2-
-
-
-
3Gain-
DDIT4-
-
-
-
4Gain-
DDX17p.R439H
Missense
SNP
0.484
2--
DDX21-
-
-
-
4Gain-
DDX50-
-
-
-
4Gain-
DDX52p.E518A
Missense
SNP
0.433
2--
DDX59p.N577Ifs*6
Frame_Shift_Del
DEL
0.349
2--
DDX60Lp.Y1625H
Missense
SNP
0.508
2--
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-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DEPP1-
-
-
-
3Gain-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKHp.R273H
Missense
SNP
0.397
2--
DGKIp.R791H
Missense
SNP
0.449
2--
DHRS12p.H120Y
Missense
SNP
0.478
2--
DHRS7Cp.R264H
Missense
SNP
0.492
2--
DHTKD1-
-
-
-
4Gain-
DHX32-
-
-
-
4Gain-
DIP2C-
-
-
-
4Gain-
DKK1-
-
-
-
4Gain-
DKK4-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLG5-
-
-
-
4Gain-
DLGAP1-
-
-
-
3Gain-
DLGAP2-
-
-
-
3Gain-
DMBT1-
-
-
-
4Gain-
DMDp.N3378Tfs*24
Frame_Shift_Del
DEL
0.435
NDND-
DMTN-
-
-
-
3Gain-
DNA2-
-
-
-
4Gain-
DNAH5p.A244T
Missense
SNP
0.507
2--
DNAJB12-
-
-
-
4Gain-
DNAJC1-
-
-
-
4Gain-
DNAJC11p.R273*
Nonsense
SNP
0.455
2--
DNAJC12-
-
-
-
4Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC9-
-
-
-
4Gain-
DNMBP-
-
-
-
4Gain-
DNMT3Bp.R538H
Missense
SNP
0.495
2--
DNTT-
-
-
-
4Gain-
DOC2Ap.K312del
In_Frame_Del
DEL
0.392
2--
DOCK1-
-
-
-
4Gain-
DOCK11p.Y2012*
Nonsense
SNP
0.569
NDND-
DOCK5-
-
-
-
3Gain-
DOCK7p.P526L
Missense
SNP
0.370
2--
DOK1p.V175M
Missense
SNP
0.655
2--
DOK2-
-
-
-
3Gain-
DOK6-
-
-
-
3Gain-
DPCD-
-
-
-
4Gain-
DPRXp.V95Sfs*7
Frame_Shift_Del
DEL
0.434
2--
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2p.F20Lfs*104
p.R481H
Frame_Shift_Del
Missense
DEL
SNP
0.668
0.624
3Gain-
DPYSL4-
-
-
-
3Gain-
DRGX-
-
-
-
3Gain-
DRICH1p.E198D
Missense
SNP
0.487
2--
DROSHAp.R254H
Missense
SNP
0.595
2--
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSPp.R866C
p.R1915C
Missense
Missense
SNP
SNP
0.486
0.515
2--
DSTYKp.L732del
In_Frame_Del
DEL
0.355
2--
DTNAp.A498Qfs*40
Frame_Shift_Del
DEL
0.604
3Gain-
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.390
2--
DUPD1-
-
-
-
4Gain-
DUS3Lp.V440I
Missense
SNP
0.439
2--
DUSP13-
-
-
-
4Gain-
DUSP26-
-
-
-
3Gain-
DUSP4-
-
-
-
3Gain-
DUSP5-
-
-
-
4Gain-
DYDC1-
-
-
-
4Gain-
DYDC2-
-
-
-
4Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1H1p.R2831H
Missense
SNP
0.455
2--
DYRK1Ap.X317_splice
Splice_Site
DEL
0.457
2--
E2F5-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
3Gain-
EBF3-
-
-
-
3Gain-
EBLN1-
-
-
-
4Gain-
ECD-
-
-
-
4Gain-
ECHDC3-
-
-
-
4Gain-
ECHS1-
-
-
-
3Gain-
ECI1p.T268M
Missense
SNP
0.579
2--
EDRF1p.N302Mfs*47
Frame_Shift_Del
DEL
0.733
4Gain-
EEF1AKMT2-
-
-
-
4Gain-
EEF1D-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFHC2p.E202D
Missense
SNP
0.468
NDND-
EFNB3p.Q331Rfs*39
Frame_Shift_Del
DEL
0.407
2--
EFR3A-
-
-
-
3Gain-
EGR2-
-
-
-
4Gain-
EGR3-
-
-
-
3Gain-
EHBP1L1p.R50H
Missense
SNP
0.485
2--
EIF3A-
-
-
-
4Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
4Gain-
EIF5AL1-
-
-
-
4Gain-
ELAC1-
-
-
-
3Gain-
ELAVL2p.A333V
Missense
SNP
0.377
2--
ELF4p.Q341Rfs*30
Frame_Shift_Del
DEL
0.476
NDND-
ELMO1p.G674R
Missense
SNP
0.527
2--
ELOA2-
-
-
-
3Gain-
ELOA3-
-
-
-
3Gain-
ELOA3B-
-
-
-
3Gain-
ELOA3D-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOVL3-
-
-
-
4Gain-
ELOVL7p.R115C
Missense
SNP
0.571
2--
ELP2-
-
-
-
3Gain-
ELP3-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMILIN2-
-
-
-
3Gain-
EML6p.A1888T
Missense
SNP
0.493
2--
EMX2-
-
-
-
4Gain-
ENKUR-
-
-
-
4Gain-
ENO4p.Y584Tfs*31
p.R551C
Frame_Shift_Del
Missense
DEL
SNP
0.197
0.223
4Gain-
ENOSF1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENPP6p.R35H
Missense
SNP
0.426
2--
ENTPD1-
-
-
-
4Gain-
ENTPD4-
-
-
-
3Gain-
ENTPD6p.G444S
Missense
SNP
0.507
2--
ENTPD7-
-
-
-
4Gain-
ENY2-
-
-
-
3Gain-
EPB41L3-
-
-
-
3Gain-
EPC1-
-
-
-
4Gain-
EPG5-
-
-
-
3Gain-
EPHA2p.T526M
Missense
SNP
0.426
2--
EPHX2-
-
-
-
3Gain-
EPPINp.Y107C
Missense
SNP
0.484
2--
EPPK1-
-
-
-
3Gain-
ERBINp.D727Ifs*9
p.K988Rfs*24
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.444
0.556
2--
ERCC6-
-
-
-
4Gain-
ERCC8p.A7T
Missense
SNP
0.492
2--
ERI1-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH3p.N557I
Missense
SNP
0.421
2--
ERICH5-
-
-
-
3Gain-
ERLIN1-
-
-
-
4Gain-
ERLIN2-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
3Gain-
ESPL1p.A35V
Missense
SNP
0.529
2--
ESRP1-
-
-
-
3Gain-
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.215
2--
EVC2p.T699M
Missense
SNP
0.557
2--
EVI2Ap.A150V
Missense
SNP
0.498
2--
EXOC6-
-
-
-
4Gain-
EXOSC1-
-
-
-
4Gain-
EXOSC4-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EXTL1p.R31H
Missense
SNP
0.473
2--
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EZH1p.A379V
Missense
SNP
0.455
2--
F13A1p.P565L
Missense
SNP
0.500
2--
FAAP100p.L21Pfs*12
Frame_Shift_Ins
INS
0.270
2--
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAM107B-
-
-
-
4Gain-
FAM110B-
-
-
-
3Gain-
FAM111Bp.R94H
Missense
SNP
0.434
2--
FAM118Bp.L217F
Missense
SNP
0.489
2--
FAM129Ap.X392_splice
Splice_Site
SNP
0.408
2--
FAM135Ap.S1485L
Missense
SNP
0.541
2--
FAM135Bp.K1101N
Missense
SNP
0.312
3Gain-
FAM13C-
-
-
-
4Gain-
FAM149B1-
-
-
-
4Gain-
FAM160B1-
-
-
-
4Gain-
FAM160B2-
-
-
-
3Gain-
FAM166Ap.L210R
Missense
SNP
0.590
2--
FAM167A-
-
-
-
3Gain-
FAM170B-
-
-
-
3Gain-
FAM171A1-
-
-
-
4Gain-
FAM175Ap.N303Ifs*17
Frame_Shift_Del
DEL
0.529
NDND-
FAM185A-
-
-
-
1Loss-
FAM186Bp.E667K
Missense
SNP
0.516
2--
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.374
2--
FAM204A-
-
-
-
4Gain-
FAM208B-
-
-
-
4Gain-
FAM210A-
-
-
-
3Gain-
FAM241B-
-
-
-
4Gain-
FAM24A-
-
-
-
4Gain-
FAM24B-
-
-
-
4Gain-
FAM45A-
-
-
-
4Gain-
FAM46Bp.R288W
Missense
SNP
0.250
NDND-
FAM47Bp.A360T
Missense
SNP
0.503
NDND-
FAM49B-
-
-
-
3Gain-
FAM53B-
-
-
-
4Gain-
FAM69C-
-
-
-
3Gain-
FAM71E2p.P40L
Missense
SNP
0.500
2--
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM98Ap.K174Nfs*2
Frame_Shift_Del
DEL
0.371
2--
FANK1-
-
-
-
4Gain-
FAS-
-
-
-
4Gain-
FAT1p.D2158Rfs*20
Frame_Shift_Ins
INS
0.320
2--
FBH1-
-
-
-
4Gain-
FBLN2p.R1180C
Missense
SNP
0.261
2--
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.413
2--
FBXL15-
-
-
-
4Gain-
FBXL19p.L381Yfs*86
Frame_Shift_Del
DEL
0.354
2--
FBXL6-
-
-
-
3Gain-
FBXO15-
-
-
-
3Gain-
FBXO16-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXW4-
-
-
-
4Gain-
FDFT1-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FER1L6p.I975T
Missense
SNP
0.252
3Gain-
FFAR4-
-
-
-
4Gain-
FGD4p.R431H
Missense
SNP
0.489
2--
FGF17-
-
-
-
3Gain-
FGF20-
-
-
-
3Gain-
FGF5p.G148Efs*45
Frame_Shift_Del
DEL
0.333
2--
FGF6p.V127M
Missense
SNP
0.470
2--
FGF8-
-
-
-
4Gain-
FGFBP3-
-
-
-
4Gain-
FGFR1-
-
-
-
3Gain-
FGFR2-
-
-
-
4Gain-
FGL1-
-
-
-
3Gain-
FHAD1p.S26T
Missense
SNP
0.453
2--
FHOD3-
-
-
-
3Gain-
FLI1p.M348L
Missense
SNP
0.459
2--
FLNAp.A1188V
Missense
SNP
0.572
NDND-
FLOT2p.A400V
Missense
SNP
0.436
2--
FLT4p.P619Lfs*20
p.P30L
Frame_Shift_Del
Missense
DEL
SNP
0.487
0.474
2--
FNTA-
-
-
-
3Gain-
FO681492.1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXI1p.R143C
Missense
SNP
0.439
2--
FOXI2p.A77T
Missense
SNP
0.188
4Gain-
FOXP1p.L414*
Frame_Shift_Del
DEL
0.410
2--
FRA10AC1p.R232Efs*96
Frame_Shift_Del
DEL
0.135
4Gain-
FRAT1-
-
-
-
4Gain-
FRAT2-
-
-
-
4Gain-
FREM1p.R507H
Missense
SNP
0.421
2--
FRG2B-
-
-
-
3Gain-
FRMD4A-
-
-
-
4Gain-
FRMPD2-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCN3p.R285C
Missense
SNP
0.472
2--
FSIP2p.V5823Yfs*24
Frame_Shift_Del
DEL
0.467
2--
FUOM-
-
-
-
3Gain-
FUT10-
-
-
-
3Gain-
FUT11-
-
-
-
4Gain-
FUT5p.R14C
Missense
SNP
0.491
2--
FXYD4-
-
-
-
3Gain-
FZD3-
-
-
-
3Gain-
FZD5p.L241M
Missense
SNP
0.386
2--
FZD6-
-
-
-
3Gain-
FZD8-
-
-
-
4Gain-
G6PC2p.R79Q
Missense
SNP
0.456
2--
GABRB1p.A363T
Missense
SNP
0.434
2--
GABRB3p.L170Pfs*11
Frame_Shift_Ins
INS
0.358
2--
GAD2-
-
-
-
4Gain-
GALNT1-
-
-
-
3Gain-
GALR1-
-
-
-
3Gain-
GAPTp.P101L
Missense
SNP
0.572
2--
GAREM1-
-
-
-
3Gain-
GATA3-
-
-
-
4Gain-
GATA4-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD2Ap.A580T
Missense
SNP
0.269
2--
GBF1-
-
-
-
4Gain-
GBGT1p.R243H
Missense
SNP
0.486
2--
GDAP1-
-
-
-
3Gain-
GDAP1L1p.E199K
Missense
SNP
0.496
2--
GDF10-
-
-
-
3Gain-
GDF2-
-
-
-
3Gain-
GDF5p.R325C
Missense
SNP
0.410
2--
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
4Gain-
GEMp.R56Q
Missense
SNP
0.262
3Gain-
GEMIN2p.K146Nfs*24
Frame_Shift_Del
DEL
0.583
2--
GFRA1-
-
-
-
4Gain-
GFRA2-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNp.A115V
Missense
SNP
0.540
2--
GHDCp.E205K
Missense
SNP
0.420
2--
GHITM-
-
-
-
4Gain-
GIMAP8p.R81H
Missense
SNP
0.530
2--
GINS4-
-
-
-
3Gain-
GIPC1p.P50Lfs*48
Frame_Shift_Del
DEL
0.391
2--
GJD4-
-
-
-
4Gain-
GLI4-
-
-
-
3Gain-
GLOD4p.R50Q
Missense
SNP
0.569
2--
GLRX3-
-
-
-
3Gain-
GLTSCR1p.E1438K
Missense
SNP
0.632
NDND-
GLUD1-
-
-
-
4Gain-
GLYCTKp.A481T
Missense
SNP
0.561
2--
GLYR1p.R381Afs*15
Frame_Shift_Ins
INS
0.265
2--
GM2Ap.R169H
Missense
SNP
0.449
2--
GMEB1p.A499V
Missense
SNP
0.497
2--
GML-
-
-
-
3Gain-
GNAL-
-
-
-
3Gain-
GNB1Lp.V108M
Missense
SNP
0.414
2--
GNMTp.D272N
Missense
SNP
0.450
2--
GNRH1-
-
-
-
3Gain-
GOLGA4p.E727D
Missense
SNP
0.547
2--
GOLGA7-
-
-
-
3Gain-
GOLGA7B-
-
-
-
4Gain-
GOLPH3p.T148M
Missense
SNP
0.443
2--
GOT1-
-
-
-
4Gain-
GOT1L1-
-
-
-
3Gain-
GPAA1p.X389_splice
Splice_Site
SNP
0.680
3Gain-
GPAM-
-
-
-
4Gain-
GPAT4-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPR158-
-
-
-
4Gain-
GPR20-
-
-
-
3Gain-
GPR26-
-
-
-
4Gain-
GPR34p.S62Cfs*23
Frame_Shift_Del
DEL
0.417
NDND-
GPR85p.A311V
Missense
SNP
0.292
2--
GPRASP2p.T88M
Missense
SNP
0.475
NDND-
GPRIN2-
-
-
-
3Gain-
GPRIN3p.I138L
Missense
SNP
0.494
2--
GPT-
-
-
-
3Gain-
GRB10p.A166T
Missense
SNP
0.419
2--
GREB1L-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRID1p.A243V
Missense
SNP
0.349
4Gain-
GRINA-
-
-
-
3Gain-
GRK5-
-
-
-
4Gain-
GRP-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSK3Ap.V133M
Missense
SNP
0.458
2--
GSR-
-
-
-
3Gain-
GSTO1-
-
-
-
4Gain-
GSTO2-
-
-
-
4Gain-
GTF2E2-
-
-
-
3Gain-
GTPBP4-
-
-
-
4Gain-
GUCY1B3p.L472I
Missense
SNP
0.345
NDND-
H2AFY2-
-
-
-
4Gain-
HABP2-
-
-
-
4Gain-
HACD1-
-
-
-
4Gain-
HADHBp.K474N
Missense
SNP
0.516
2--
HAS2-
-
-
-
3Gain-
HAUS1-
-
-
-
3Gain-
HBE1p.A139V
Missense
SNP
0.445
2--
HCFC1p.R524W
Missense
SNP
0.472
NDND-
HCN3p.R502H
Missense
SNP
0.467
2--
HDAC5p.I933Lfs*14
Frame_Shift_Del
DEL
0.420
2--
HDGFp.S218Lfs*?
Frame_Shift_Del
DEL
0.460
2--
HDHD2-
-
-
-
3Gain-
HDHD3p.Q92H
Missense
SNP
0.440
2--
HDLBPp.R163H
Missense
SNP
0.333
2--
HEATR6p.Q693H
Missense
SNP
0.286
2--
HECTD1p.I2041Lfs*27
Frame_Shift_Del
DEL
0.300
2--
HECTD2p.X170_splice
Splice_Site
SNP
0.122
4Gain-
HELLS-
-
-
-
4Gain-
HELZp.A149T
Missense
SNP
0.515
2--
HERC4-
-
-
-
4Gain-
HEY1-
-
-
-
3Gain-
HFEp.L122M
Missense
SNP
0.530
2--
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
3Gain-
HHEX-
-
-
-
4Gain-
HHLA1-
-
-
-
3Gain-
HIC2p.T549M
Missense
SNP
0.394
2--
HIF1AN-
-
-
-
4Gain-
HIST1H4Cp.T72I
Missense
SNP
0.457
2--
HK1p.T605M
Missense
SNP
0.181
4Gain-
HKDC1-
-
-
-
4Gain-
HLA-Fp.A203T
Missense
SNP
0.533
2--
HMBOX1p.R35H
Missense
SNP
0.329
3Gain-
HMSD-
-
-
-
3Gain-
HMX2-
-
-
-
4Gain-
HMX3-
-
-
-
4Gain-
HNF4G-
-
-
-
3Gain-
HNRNPF-
-
-
-
3Gain-
HNRNPH3-
-
-
-
4Gain-
HNRNPKp.R268W
Missense
SNP
0.371
2--
HOGA1-
-
-
-
4Gain-
HOOK3-
-
-
-
3Gain-
HOXA3p.Q302Pfs*42
Frame_Shift_Ins
INS
0.228
2--
HPCAp.R118Q
Missense
SNP
0.383
2--
HPS1-
-
-
-
4Gain-
HPS6-
-
-
-
4Gain-
HPSE2-
-
-
-
4Gain-
HR-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HS6ST2p.R94C
Missense
SNP
0.478
NDND-
HSBP1L1-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSPA12A-
-
-
-
4Gain-
HSPA14-
-
-
-
4Gain-
HTR3Ap.S178L
Missense
SNP
0.397
2--
HTR7-
-
-
-
4Gain-
HTRA1-
-
-
-
4Gain-
HTRA4-
-
-
-
3Gain-
HTTp.R416H
Missense
SNP
0.514
2--
HUNKp.E596K
Missense
SNP
0.517
2--
ICAM5p.R434H
Missense
SNP
0.423
2--
IDE-
-
-
-
4Gain-
IDH1p.R132H
Missense
SNP
0.281
2--
IDI1-
-
-
-
4Gain-
IDI2-
-
-
-
4Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IFIT1-
-
-
-
4Gain-
IFIT1B-
-
-
-
4Gain-
IFIT2-
-
-
-
4Gain-
IFIT3-
-
-
-
4Gain-
IFIT5-
-
-
-
4Gain-
IFNL2p.F137L
p.R152W
Missense
Missense
SNP
SNP
0.057
0.633
2--
IGF2BP1p.G541R
Missense
SNP
0.358
2--
IKBKB-
-
-
-
3Gain-
IKZF5-
-
-
-
4Gain-
IL15RA-
-
-
-
4Gain-
IL17RCp.W167R
Missense
SNP
0.560
2--
IL17RDp.A453V
Missense
SNP
0.447
2--
IL2RA-
-
-
-
4Gain-
IL31RAp.G534Efs*7
Frame_Shift_Del
DEL
0.384
2--
IL7-
-
-
-
3Gain-
ILKAPp.S202Qfs*52
Frame_Shift_Del
DEL
0.425
2--
IMPA1-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
INA-
-
-
-
4Gain-
INO80C-
-
-
-
3Gain-
INPP5A-
-
-
-
3Gain-
INPP5F-
-
-
-
4Gain-
INSM2p.H309N
Missense
SNP
0.545
2--
INSYN2-
-
-
-
4Gain-
INTS10-
-
-
-
3Gain-
INTS5p.S1010del
In_Frame_Del
DEL
0.512
2--
INTS6Lp.R305Q
Missense
SNP
0.465
NDND-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
3Gain-
INVSp.N1061Kfs*20
Frame_Shift_Ins
INS
0.317
2--
IPMK-
-
-
-
4Gain-
IQANK1-
-
-
-
3Gain-
IRGCp.V89I
Missense
SNP
0.515
2--
IRS1p.R998Vfs*13
Frame_Shift_Del
DEL
0.398
2--
ISL2p.G173E
Missense
SNP
0.448
2--
ISM1p.A412V
Missense
SNP
0.378
2--
ITGA11p.N1031S
Missense
SNP
0.461
2--
ITGA8-
-
-
-
4Gain-
ITGB1-
-
-
-
4Gain-
ITIH2-
-
-
-
4Gain-
ITIH5-
-
-
-
4Gain-
ITPRIP-
-
-
-
4Gain-
JAK1p.P430Rfs*2
p.R997W
p.R108Q
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.520
0.413
0.386
2--
JAKMIP3-
-
-
-
3Gain-
JCAD-
-
-
-
4Gain-
JMJD1C-
-
-
-
4Gain-
JPH1-
-
-
-
3Gain-
JPH2p.A595V
Missense
SNP
0.552
2--
JRK-
-
-
-
3Gain-
KANK3p.D792N
Missense
SNP
0.418
2--
KAT6A-
-
-
-
3Gain-
KAT6B-
-
-
-
4Gain-
KATNAL2-
-
-
-
3Gain-
KAZALD1-
-
-
-
4Gain-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD13p.T162M
Missense
SNP
0.397
2--
KCNB2-
-
-
-
3Gain-
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.421
2--
KCNC4p.R413W
Missense
SNP
0.575
2--
KCNG2-
-
-
-
3Gain-
KCNH2p.W497*
p.R472H
Nonsense
Missense
SNP
SNP
0.384
0.461
2--
KCNH5p.V58I
Missense
SNP
0.440
2--
KCNIP2-
-
-
-
4Gain-
KCNJ4p.P433L
Missense
SNP
0.475
2--
KCNK18-
-
-
-
4Gain-
KCNK9-
-
-
-
3Gain-
KCNMA1-
-
-
-
4Gain-
KCNQ3-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD10p.R308Q
Missense
SNP
0.500
2--
KCTD18p.S301R
Missense
SNP
0.492
2--
KCTD8p.L209R
Missense
SNP
0.260
2--
KCTD9-
-
-
-
3Gain-
KDM2Bp.K26Rfs*81
Frame_Shift_Del
DEL
0.399
2--
KDM4Cp.Y1011Mfs*16
Frame_Shift_Del
DEL
0.427
2--
KDM5Ap.R674Q
Missense
SNP
0.353
2--
KDSR-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA1161p.R673H
Missense
SNP
0.518
NDND-
KIAA1217p.R976Gfs*16
p.A233T
p.T1868A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.715
0.271
0.268
4Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1522p.A247T
Missense
SNP
0.579
2--
KIAA1549p.L283*
Frame_Shift_Del
DEL
0.310
2--
KIAA1614p.P50Qfs*15
Frame_Shift_Del
DEL
0.421
2--
KIF11-
-
-
-
4Gain-
KIF13Ap.A364T
Missense
SNP
0.583
2--
KIF13B-
-
-
-
3Gain-
KIF1BP-
-
-
-
4Gain-
KIF20B-
-
-
-
4Gain-
KIF21Bp.V33I
Missense
SNP
0.389
2--
KIF27p.A1067V
Missense
SNP
0.466
2--
KIF5B-
-
-
-
4Gain-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
4Gain-
KLF10-
-
-
-
3Gain-
KLF6-
-
-
-
4Gain-
KLHL1p.G35Efs*31
Frame_Shift_Del
DEL
0.476
2--
KLHL14-
-
-
-
3Gain-
KLHL23p.C126Lfs*2
Frame_Shift_Ins
INS
0.305
2--
KLHL29p.Y227C
Missense
SNP
0.436
2--
KLHL38-
-
-
-
3Gain-
KLHL42p.C399Vfs*44
Frame_Shift_Del
DEL
0.427
2--
KLLN-
-
-
-
4Gain-
KMT2Bp.P1101Lfs*81
p.R1400C
Frame_Shift_Del
Missense
DEL
SNP
0.458
0.401
2--
KMT2Cp.S143Vfs*3
p.P1838H
Frame_Shift_Del
Missense
DEL
SNP
0.354
0.626
2--
KMT2Dp.P2354Lfs*30
p.R5086*
Frame_Shift_Del
Nonsense
DEL
SNP
0.490
0.367
2--
KMT2Ep.M1354*
Frame_Shift_Del
DEL
0.457
2--
KNDC1p.Q1704*
Nonsense
SNP
0.746
3Gain-
KRBOX1p.Q77Sfs*6
Frame_Shift_Del
DEL
0.195
2--
KRT34p.R376W
Missense
SNP
0.512
2--
KYAT3p.I153T
Missense
SNP
0.411
2--
L3MBTL4-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3p.P1658Lfs*91
p.R1841H
Frame_Shift_Del
Missense
DEL
SNP
0.263
0.623
3Gain-
LAMC3p.R152H
Missense
SNP
0.444
2--
LAPTM4B-
-
-
-
3Gain-
LARP4Bp.T163Hfs*47
Frame_Shift_Del
DEL
0.302
4Gain-
LBX1-
-
-
-
4Gain-
LCLAT1p.N222Mfs*21
Frame_Shift_Del
DEL
0.603
2--
LCOR-
-
-
-
4Gain-
LCTp.A952T
Missense
SNP
0.453
2--
LDB1-
-
-
-
4Gain-
LDB3-
-
-
-
4Gain-
LDLRAD4-
-
-
-
3Gain-
LEFTY2p.P286Rfs*41
Frame_Shift_Del
DEL
0.473
2--
LEPp.G8R
Missense
SNP
0.474
2--
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LGI1-
-
-
-
4Gain-
LGI3-
-
-
-
3Gain-
LGR4p.R304C
Missense
SNP
0.488
2--
LHPP-
-
-
-
4Gain-
LHX2p.T374Pfs*5
Frame_Shift_Del
DEL
0.445
2--
LIG3p.S241Rfs*65
Frame_Shift_Del
DEL
0.448
2--
LIG4p.D868Y
Missense
SNP
0.529
2--
LIMA1p.T537Lfs*38
Frame_Shift_Del
DEL
0.421
2--
LIMCH1p.P998S
Missense
SNP
0.333
2--
LIPA-
-
-
-
4Gain-
LIPEp.E943D
Missense
SNP
0.461
2--
LIPF-
-
-
-
4Gain-
LIPG-
-
-
-
3Gain-
LIPJ-
-
-
-
4Gain-
LIPK-
-
-
-
4Gain-
LIPM-
-
-
-
4Gain-
LIPN-
-
-
-
4Gain-
LMAN1-
-
-
-
3Gain-
LONRF1-
-
-
-
3Gain-
LOXHD1-
-
-
-
3Gain-
LOXL2-
-
-
-
3Gain-
LOXL3p.R566H
p.R148C
Missense
Missense
SNP
SNP
0.542
0.559
2--
LOXL4p.E431D
Missense
SNP
0.284
4Gain-
LPAp.R1464Q
Missense
SNP
0.545
2--
LPAR5p.R78C
Missense
SNP
0.565
2--
LPIN2-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LRBAp.R1992Q
Missense
SNP
0.443
2--
LRIT1-
-
-
-
4Gain-
LRIT2-
-
-
-
4Gain-
LRMDA-
-
-
-
4Gain-
LRP1p.R1628H
Missense
SNP
0.463
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.G1820E
Missense
SNP
0.475
2--
LRRC14-
-
-
-
3Gain-
LRRC18-
-
-
-
3Gain-
LRRC20p.A121V
Missense
SNP
0.408
4Gain-
LRRC23-
-
-
-
2-LRRC23--AC093512.2
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC3Bp.T201Lfs*17
Frame_Shift_Del
DEL
0.472
2--
LRRC46p.P282H
Missense
SNP
0.434
2--
LRRC6-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRIQ1p.P1237H
Missense
SNP
0.396
2--
LRRIQ3p.K244Nfs*17
Frame_Shift_Del
DEL
0.366
2--
LRRTM3-
-
-
-
4Gain-
LSM1-
-
-
-
3Gain-
LTBP2p.V1543I
Missense
SNP
0.368
2--
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
0.422
2--
LYZL1p.G102S
Missense
SNP
0.218
4Gain-
LYZL2-
-
-
-
4Gain-
LZTR1p.A392V
Missense
SNP
0.527
2--
LZTS1-
-
-
-
3Gain-
LZTS2-
-
-
-
4Gain-
MACF1p.R4914H
Missense
SNP
0.471
2--
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAGED2p.X362_splice
Splice_Site
SNP
0.476
NDND-
MAK16-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
4Gain-
MALT1-
-
-
-
3Gain-
MAOAp.R454*
Nonsense
SNP
0.500
NDND-
MAP1Sp.S595*
Frame_Shift_Ins
INS
0.385
2--
MAP3K10p.P504Lfs*10
Frame_Shift_Del
DEL
0.524
2--
MAP3K8-
-
-
-
4Gain-
MAP4K3p.G190Vfs*16
Frame_Shift_Del
DEL
0.476
2--
MAPK15-
-
-
-
3Gain-
MAPK4p.S386L
Missense
SNP
0.215
3Gain-
MAPK8-
-
-
-
3Gain-
MAPK8IP2p.R461*
Nonsense
SNP
0.510
2--
MAPRE2p.A45V
Missense
SNP
0.301
3Gain-
MARCH5-
-
-
-
4Gain-
MARCH8-
-
-
-
3Gain-
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.289
2--
MARVELD1-
-
-
-
4Gain-
MASP1p.S272N
Missense
SNP
0.423
2--
MAST1p.G1280D
Missense
SNP
0.528
2--
MASTL-
-
-
-
4Gain-
MAT1A-
-
-
-
4Gain-
MATN2-
-
-
-
3Gain-
MAZp.F14Lfs*34
Frame_Shift_Ins
INS
0.173
2--
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBL2-
-
-
-
4Gain-
MBOAT4-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTPS1p.G751R
Missense
SNP
0.426
2--
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCCC1p.A670V
Missense
SNP
0.470
2--
MCHR2p.R140*
Nonsense
SNP
0.608
2--
MCM10-
-
-
-
4Gain-
MCM3APp.R906C
Missense
SNP
0.437
2--
MCM4p.T629Qfs*18
Frame_Shift_Del
DEL
0.347
3Gain-
MCM5p.R114Q
Missense
SNP
0.429
2--
MCMBP-
-
-
-
4Gain-
MCMDC2-
-
-
-
3Gain-
MCPH1p.T468Pfs*32
Frame_Shift_Del
DEL
0.304
3Gain-
MCTP1p.F877Ifs*4
Frame_Shift_Ins
INS
0.273
2--
MCU-
-
-
-
4Gain-
MDH1Bp.V475I
Missense
SNP
0.527
2--
MDN1p.E2692*
Frame_Shift_Ins
INS
0.274
2--
ME2-
-
-
-
3Gain-
MED30-
-
-
-
3Gain-
MEIG1-
-
-
-
4Gain-
MEP1B-
-
-
-
3Gain-
MESTp.R167Q
Missense
SNP
0.415
2--
METTL4-
-
-
-
3Gain-
METTL7Ap.R93M
Missense
SNP
0.529
2--
METTL9p.L110M
Missense
SNP
0.470
2--
MEX3Bp.Y55Rfs*21
Frame_Shift_Del
DEL
0.368
2--
MEX3C-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFSD1p.R58W
Missense
SNP
0.444
2--
MFSD13A-
-
-
-
4Gain-
MFSD3-
-
-
-
3Gain-
MFSD4Bp.C202Vfs*4
Frame_Shift_Del
DEL
0.389
2--
MGMT-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MICAL1p.G115R
Missense
SNP
0.450
2--
MICAL3p.R1405Gfs*33
Frame_Shift_Del
DEL
0.564
2--
MICALCLp.S51Afs*49
p.R261Q
Frame_Shift_Del
Missense
DEL
SNP
0.476
0.602
NDND-
MICU1-
-
-
-
4Gain-
MICU3-
-
-
-
3Gain-
MIER2p.D492N
Missense
SNP
0.506
2--
MINDY3-
-
-
-
4Gain-
MINPP1-
-
-
-
4Gain-
MISPp.G116R
Missense
SNP
0.438
2--
MKI67p.D2147Qfs*29
Frame_Shift_Ins
INS
0.240
4Gain-
MKX-
-
-
-
4Gain-
MLC1p.L217M
Missense
SNP
0.493
2--
MLLT10-
-
-
-
4Gain-
MLLT3p.R556C
Missense
SNP
0.436
2--
MLXIPp.R214C
p.A498T
Missense
Missense
SNP
SNP
0.516
0.607
2--
MMP16-
-
-
-
3Gain-
MMP21-
-
-
-
4Gain-
MMRN2-
-
-
-
4Gain-
MMS19-
-
-
-
4Gain-
MOCOS-
-
-
-
3Gain-
MORN4-
-
-
-
4Gain-
MOS-
-
-
-
3Gain-
MPP7-
-
-
-
4Gain-
MPPE1p.E83Gfs*40
Frame_Shift_Ins
INS
0.289
3Gain-
MRC1-
-
-
-
4Gain-
MRGPRFp.A97V
Missense
SNP
0.484
2--
MRO-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH8p.L976I
Missense
SNP
0.444
2--
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL43-
-
-
-
4Gain-
MRPS16-
-
-
-
4Gain-
MRPS28-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSMB-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB2-
-
-
-
4Gain-
MSS51-
-
-
-
4Gain-
MST1Rp.V898M
Missense
SNP
0.392
2--
MTA1p.R682C
Missense
SNP
0.436
2--
MTBP-
-
-
-
3Gain-
MTCL1-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTG1-
-
-
-
3Gain-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTPAP-
-
-
-
4Gain-
MTSS1-
-
-
-
3Gain-
MTSS1Lp.G560Afs*34
Frame_Shift_Del
DEL
0.472
2--
MTUS1-
-
-
-
3Gain-
MUC16p.R12249H
Missense
SNP
0.415
2--
MUC5ACp.M5088I
Missense
SNP
0.520
2--
MXI1-
-
-
-
4Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.512
2--
MYADMp.A189V
Missense
SNP
0.511
2--
MYBL1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2p.G3497*
Nonsense
SNP
0.293
2--
MYCNp.A220D
Missense
SNP
0.076
2--
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.536
2--
MYH10p.Q886R
Missense
SNP
0.500
2--
MYH9p.L812I
Missense
SNP
0.574
2--
MYL1p.E165D
Missense
SNP
0.471
2--
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL7p.Q79R
Missense
SNP
0.410
2--
MYLKp.P21H
Missense
SNP
0.238
2--
MYO1Gp.R37C
Missense
SNP
0.478
2--
MYO3A-
-
-
-
4Gain-
MYO5Ap.A695T
Missense
SNP
0.486
2--
MYO5B-
-
-
-
3Gain-
MYO7Bp.P107L
Missense
SNP
0.379
2--
MYOFp.I1430V
Missense
SNP
0.104
4Gain-
MYOM1-
-
-
-
3Gain-
MYOM2-
-
-
-
3Gain-
MYOM3p.E1430K
Missense
SNP
0.340
2--
MYOZ1-
-
-
-
4Gain-
MYPNp.I891*
Frame_Shift_Del
DEL
0.261
4Gain-
MZT2B-
-
-
-
1Loss-
NANOS1-
-
-
-
4Gain-
NAP1L5p.A32V
Missense
SNP
0.388
2--
NAPG-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARSp.V536M
Missense
SNP
0.339
3Gain-
NAT1-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAV2p.P29Rfs*11
Frame_Shift_Del
DEL
0.254
2--
NBN-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCKIPSDp.F631del
In_Frame_Del
DEL
0.542
2--
NCOA2p.V1419M
Missense
SNP
0.281
3Gain-
NCOA4-
-
-
-
3Gain-
NDC80p.T571M
Missense
SNP
0.639
3Gain-
NDRG1-
-
-
-
3Gain-
NDST2-
-
-
-
4Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB8-
-
-
-
4Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS7p.A187T
Missense
SNP
0.476
2--
NDUFV2-
-
-
-
3Gain-
NEBL-
-
-
-
4Gain-
NECAB1-
-
-
-
3Gain-
NEDD4Lp.N156Mfs*51
Frame_Shift_Del
DEL
0.684
3Gain-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK1p.D1179Y
Missense
SNP
0.489
2--
NEK4p.R743W
Missense
SNP
0.498
2--
NET1-
-
-
-
4Gain-
NETO1-
-
-
-
3Gain-
NEURL1-
-
-
-
4Gain-
NEURL1Bp.R533Q
Missense
SNP
0.531
2--
NEURL4p.L1256Cfs*12
Frame_Shift_Del
DEL
0.408
2--
NEUROD6p.K83Rfs*35
Frame_Shift_Del
DEL
0.444
2--
NEUROG3-
-
-
-
4Gain-
NFATC1-
-
-
-
3Gain-
NFE2p.R300Q
Missense
SNP
0.400
2--
NFKB2-
-
-
-
4Gain-
NHLRC2-
-
-
-
4Gain-
NHSL2p.S123L
Missense
SNP
0.283
NDND-
NIPAL2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKX1-2-
-
-
-
4Gain-
NKX2-3-
-
-
-
4Gain-
NKX2-6-
-
-
-
3Gain-
NKX2-8p.Q116H
Missense
SNP
0.408
2--
NKX3-1-
-
-
-
3Gain-
NKX6-2-
-
-
-
3Gain-
NKX6-3-
-
-
-
3Gain-
NLRC5p.R1500W
Missense
SNP
0.443
2--
NLRP2p.R587Q
Missense
SNP
0.483
2--
NLRP8p.E619G
Missense
SNP
0.503
2--
NMT2-
-
-
-
4Gain-
NOC3L-
-
-
-
4Gain-
NODAL-
-
-
-
4Gain-
NOL4-
-
-
-
3Gain-
NOLC1-
-
-
-
4Gain-
NOTCH1p.Q462*
Nonsense
SNP
0.492
2--
NOV-
-
-
-
3Gain-
NOVA1p.K210N
Missense
SNP
0.362
2--
NPBWR1-
-
-
-
3Gain-
NPBWR2p.R243Q
Missense
SNP
0.440
2--
NPC1-
-
-
-
3Gain-
NPFFR1-
-
-
-
4Gain-
NPM2-
-
-
-
3Gain-
NPM3-
-
-
-
4Gain-
NPRL3p.Y531H
Missense
SNP
0.462
2--
NPS-
-
-
-
4Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR2F1p.N263D
Missense
SNP
0.476
2--
NR3C2p.V618A
Missense
SNP
0.418
2--
NRAP-
-
-
-
4Gain-
NRBF2-
-
-
-
4Gain-
NRBP2-
-
-
-
3Gain-
NRG1p.E79*
Nonsense
SNP
0.600
3Gain-
NRG3-
-
-
-
4Gain-
NRKp.Q410H
p.Q809R
Missense
Missense
SNP
SNP
0.422
0.480
NDND-
NRP1-
-
-
-
4Gain-
NSD1p.M1531Cfs*43
Frame_Shift_Del
DEL
0.406
2--
NSD3-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE4A-
-
-
-
4Gain-
NSUN6-
-
-
-
4Gain-
NT5C2-
-
-
-
4Gain-
NTNG2p.G144S
Missense
SNP
0.510
2--
NTRK1p.R347H
Missense
SNP
0.549
2--
NUDCD1-
-
-
-
3Gain-
NUDT13-
-
-
-
4Gain-
NUDT18-
-
-
-
3Gain-
NUDT5-
-
-
-
4Gain-
NUGGC-
-
-
-
3Gain-
NUP133p.K968del
In_Frame_Del
DEL
0.447
2--
NXPH4p.G210Afs*166
Frame_Shift_Del
DEL
0.457
2--
OAT-
-
-
-
4Gain-
OBSCNp.G2909E
Missense
SNP
0.580
2--
OC90-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
OGA-
-
-
-
4Gain-
OGDHLp.R758W
Missense
SNP
0.244
4Gain-
OIT3-
-
-
-
4Gain-
OLAH-
-
-
-
4Gain-
ONECUT2-
-
-
-
3Gain-
OPALIN-
-
-
-
4Gain-
OPLAH-
-
-
-
3Gain-
OPN4-
-
-
-
4Gain-
OPRK1-
-
-
-
3Gain-
OPTN-
-
-
-
4Gain-
OR13A1-
-
-
-
3Gain-
OR13C3p.A149T
Missense
SNP
0.475
2--
OR13H1p.R298W
Missense
SNP
0.483
NDND-
OR1A2p.R122*
Nonsense
SNP
0.538
2--
OR1S2p.I26T
Missense
SNP
0.438
2--
OR2J2p.N6Mfs*21
Frame_Shift_Del
DEL
0.491
2--
OR4C12p.R258C
Missense
SNP
0.474
2--
OR4D6p.T241M
Missense
SNP
0.500
2--
OR4D9p.S116C
Missense
SNP
0.427
2--
OR51B5p.M63I
Missense
SNP
0.532
2--
OR6C75p.R221W
Missense
SNP
0.445
2--
OR6N1p.R165C
Missense
SNP
0.528
2--
OR7G2p.Y280H
Missense
SNP
0.484
2--
OR8K3p.F311Lfs*?
Frame_Shift_Del
DEL
0.409
2--
OSBPL1A-
-
-
-
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTUD1-
-
-
-
4Gain-
OTUD6B-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
P2RX5p.Y338C
Missense
SNP
0.533
2--
P2RX6p.G63Afs*39
Frame_Shift_Del
DEL
0.357
2--
P3H2p.K430Sfs*6
Frame_Shift_Del
DEL
0.496
2--
P4HA1-
-
-
-
4Gain-
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.417
2--
PABPC1-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PALD1-
-
-
-
4Gain-
PANK1-
-
-
-
4Gain-
PAOX-
-
-
-
3Gain-
PAPSS2-
-
-
-
4Gain-
PARD3-
-
-
-
4Gain-
PARD3Bp.R932G
Missense
SNP
0.469
2--
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
4Gain-
PARP10-
-
-
-
3Gain-
PAX2-
-
-
-
4Gain-
PAX7p.A259V
Missense
SNP
0.447
2--
PBK-
-
-
-
3Gain-
PBLD-
-
-
-
4Gain-
PBX1p.G124R
Missense
SNP
0.389
2--
PCp.R453Q
Missense
SNP
0.403
2--
PCBD1-
-
-
-
4Gain-
PCDH12p.L685Yfs*7
Frame_Shift_Del
DEL
0.428
2--
PCDH15-
-
-
-
4Gain-
PCDHA6p.R428W
Missense
SNP
0.392
2--
PCDHB1p.P147T
Missense
SNP
0.319
2--
PCDHB16p.I142Yfs*7
Frame_Shift_Del
DEL
0.377
2--
PCDHGA3p.A578V
Missense
SNP
0.475
2--
PCGF5-
-
-
-
4Gain-
PCGF6-
-
-
-
4Gain-
PCK1p.I612Rfs*5
Frame_Shift_Ins
INS
0.310
2--
PCLOp.L2443Vfs*15
p.S3436G
p.S1052L
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.294
0.453
0.454
2--
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCNX1p.E466K
Missense
SNP
0.457
2--
PCSK1Np.A31Rfs*7
Frame_Shift_Del
DEL
0.387
NDND-
PCSK9p.R93H
Missense
SNP
0.484
2--
PCYOX1p.R484C
Missense
SNP
0.497
2--
PDCD11-
-
-
-
4Gain-
PDCD4-
-
-
-
4Gain-
PDE5Ap.H617Y
Missense
SNP
0.422
2--
PDE6C-
-
-
-
4Gain-
PDE7A-
-
-
-
3Gain-
PDGFRL-
-
-
-
3Gain-
PDLIM1-
-
-
-
4Gain-
PDLIM2-
-
-
-
3Gain-
PDLIM4p.R16H
Missense
SNP
0.375
2--
PDP1-
-
-
-
3Gain-
PDSS1-
-
-
-
4Gain-
PDX1p.S231P
Missense
SNP
0.233
2--
PDZD2p.K104Qfs*38
Frame_Shift_Ins
INS
0.307
2--
PDZD3p.G92*
Nonsense
SNP
0.400
2--
PDZD7-
-
-
-
4Gain-
PDZD8-
-
-
-
4Gain-
PEBP4-
-
-
-
3Gain-
PEG3p.S403L
Missense
SNP
0.510
2--
PENK-
-
-
-
3Gain-
PER2p.A1049T
p.V368M
Missense
Missense
SNP
SNP
0.506
0.479
2--
PEX2-
-
-
-
3Gain-
PEX5p.R241W
Missense
SNP
0.125
2--
PFKFB3-
-
-
-
4Gain-
PFKPp.R265Gfs*2
p.I320V
Frame_Shift_Del
Missense
DEL
SNP
0.199
0.703
4Gain-
PGAM1-
-
-
-
4Gain-
PGAP2p.R314*
Nonsense
SNP
0.429
2--
PHF13p.A145T
Missense
SNP
0.485
2--
PHF20L1-
-
-
-
3Gain-
PHF21Ap.P652Lfs*104
Frame_Shift_Del
DEL
0.550
2--
PHKG2p.R71W
Missense
SNP
0.509
2--
PHLPP1-
-
-
-
3Gain-
PHYH-
-
-
-
4Gain-
PHYHIP-
-
-
-
3Gain-
PHYHIPL-
-
-
-
4Gain-
PI15-
-
-
-
3Gain-
PI4K2A-
-
-
-
4Gain-
PIAS2-
-
-
-
3Gain-
PIEZO2-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIK3AP1-
-
-
-
4Gain-
PIK3C3-
-
-
-
3Gain-
PIK3CDp.C355Y
Missense
SNP
0.379
2--
PIK3R4p.V448I
Missense
SNP
0.474
2--
PINX1-
-
-
-
3Gain-
PIP4K2A-
-
-
-
4Gain-
PIP4P2-
-
-
-
3Gain-
PIP5KL1p.R9Afs*47
Frame_Shift_Del
DEL
0.500
2--
PITRM1-
-
-
-
4Gain-
PITX3-
-
-
-
4Gain-
PIWIL2-
-
-
-
3Gain-
PIWIL3p.R256H
Missense
SNP
0.463
2--
PKD2L1-
-
-
-
4Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKN2p.E854D
Missense
SNP
0.426
2--
PLA2G12B-
-
-
-
4Gain-
PLAC9-
-
-
-
4Gain-
PLAG1-
-
-
-
3Gain-
PLATp.T46M
Missense
SNP
0.642
3Gain-
PLAU-
-
-
-
4Gain-
PLCE1-
-
-
-
4Gain-
PLD3p.A402V
Missense
SNP
0.475
2--
PLD5p.V376I
Missense
SNP
0.455
2--
PLECp.T3608M
p.E2305*
p.R609H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.578
0.311
0.273
3Gain-
PLEKHA1-
-
-
-
4Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHO1p.Q256Rfs*6
Frame_Shift_Del
DEL
0.475
2--
PLEKHS1-
-
-
-
4Gain-
PLPBP-
-
-
-
3Gain-
PLPP4-
-
-
-
4Gain-
PLPP5-
-
-
-
3Gain-
PLXDC2-
-
-
-
4Gain-
PLXNA1p.T508M
p.D1478N
Missense
Missense
SNP
SNP
0.478
0.544
2--
PMAIP1-
-
-
-
3Gain-
PMLp.E27Rfs*71
Frame_Shift_Del
DEL
0.447
2--
PMP2-
-
-
-
3Gain-
PMS2p.R199C
Missense
SNP
0.466
2--
PNISRp.R697Gfs*15
Frame_Shift_Del
DEL
0.457
2--
PNLIP-
-
-
-
4Gain-
PNLIPRP1-
-
-
-
4Gain-
PNLIPRP2-
-
-
-
4Gain-
PNLIPRP3-
-
-
-
4Gain-
PNMA2-
-
-
-
3Gain-
PNOC-
-
-
-
3Gain-
PNPLA2p.A432T
Missense
SNP
0.524
2--
POLB-
-
-
-
3Gain-
POLI-
-
-
-
3Gain-
POLL-
-
-
-
4Gain-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR3A-
-
-
-
4Gain-
POLR3D-
-
-
-
3Gain-
POMK-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F2p.S577G
Missense
SNP
0.434
2--
POU5F1B-
-
-
-
3Gain-
PPA1-
-
-
-
4Gain-
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.585
2--
PPDPFL-
-
-
-
3Gain-
PPFIA2p.R50W
Missense
SNP
0.455
2--
PPHLN1p.E370G
Missense
SNP
0.619
2--
PPIF-
-
-
-
4Gain-
PPIL1p.R72*
Nonsense
SNP
0.608
2--
PPLp.R419Q
Missense
SNP
0.390
2--
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.461
2--
PPP1R16A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
3Gain-
PPP1R3C-
-
-
-
4Gain-
PPP1R42-
-
-
-
3Gain-
PPP2CB-
-
-
-
3Gain-
PPP2R1Ap.T524M
Missense
SNP
0.371
2--
PPP2R2A-
-
-
-
3Gain-
PPP2R2D-
-
-
-
3Gain-
PPP3CB-
-
-
-
4Gain-
PPP3CC-
-
-
-
3Gain-
PPP4R1-
-
-
-
3Gain-
PPRC1-
-
-
-
4Gain-
PQLC1-
-
-
-
3Gain-
PRAG1-
-
-
-
3Gain-
PRAP1-
-
-
-
3Gain-
PRDM14-
-
-
-
3Gain-
PRDX3-
-
-
-
4Gain-
PRDX4p.R171Efs*6
Frame_Shift_Del
DEL
0.473
NDND-
PRELID3A-
-
-
-
3Gain-
PRELPp.N334Qfs*8
Frame_Shift_Ins
INS
0.270
2--
PREX2-
-
-
-
3Gain-
PRF1-
-
-
-
4Gain-
PRG4p.T367I
Missense
SNP
0.533
2--
PRICKLE3p.Q533R
Missense
SNP
0.495
NDND-
PRKCQp.R703W
Missense
SNP
0.258
4Gain-
PRKDC-
-
-
-
3Gain-
PRKG1p.R297K
Missense
SNP
0.213
4Gain-
PRLHRp.R270H
Missense
SNP
0.372
4Gain-
PRMT2p.A23V
Missense
SNP
0.448
2--
PROM2p.E728Vfs*17
Frame_Shift_Del
DEL
0.360
2--
PROSCp.Q71H
Missense
SNP
0.624
NDND-
PROSER2-
-
-
-
4Gain-
PRPF18-
-
-
-
4Gain-
PRPF40Bp.P40L
p.R491*
Missense
Nonsense
SNP
SNP
0.492
0.417
2--
PRPF8p.R49W
Missense
SNP
0.527
2--
PRR12p.F1281L
Missense
SNP
0.533
2--
PRR14Lp.F1767del
In_Frame_Del
DEL
0.361
2--
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
4Gain-
PRR35p.A246Gfs*88
Frame_Shift_Ins
INS
0.222
2--
PRSS55-
-
-
-
3Gain-
PRTFDC1-
-
-
-
4Gain-
PRXL2A-
-
-
-
4Gain-
PSAP-
-
-
-
4Gain-
PSCA-
-
-
-
3Gain-
PSD-
-
-
-
4Gain-
PSD3-
-
-
-
3Gain-
PSEN1p.S178Hfs*24
Frame_Shift_Del
DEL
0.567
2-PSEN1--AC124312.3
PSG2p.A263V
Missense
SNP
0.488
2--
PSKH2-
-
-
-
3Gain-
PSMA8-
-
-
-
3Gain-
PSMC2p.A269Sfs*7
Frame_Shift_Ins
INS
0.329
2--
PSMC5p.E396G
Missense
SNP
0.506
2--
PSMD1p.K124Nfs*11
Frame_Shift_Del
DEL
0.376
2--
PSMG2-
-
-
-
3Gain-
PSTK-
-
-
-
4Gain-
PSTPIP2-
-
-
-
3Gain-
PTCHD3p.A235V
Missense
SNP
0.236
4Gain-
PTDSS1-
-
-
-
3Gain-
PTEN-
-
-
-
4Gain-
PTER-
-
-
-
4Gain-
PTF1A-
-
-
-
4Gain-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
3Gain-
PTNp.V42*
Frame_Shift_Del
DEL
0.625
2--
PTOV1p.*417Sfs*14
Frame_Shift_Del
DEL
0.311
2--
PTP4A3-
-
-
-
3Gain-
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPRDp.V1848I
p.R401W
Missense
Missense
SNP
SNP
0.602
0.459
2--
PTPRE-
-
-
-
4Gain-
PTPRMp.R226*
Nonsense
SNP
0.310
3Gain-
PTPRTp.P372L
Missense
SNP
0.508
2--
PUF60-
-
-
-
3Gain-
PUM1p.R922Q
Missense
SNP
0.529
2--
PURG-
-
-
-
3Gain-
PWWP2B-
-
-
-
3Gain-
PXDNL-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYROXD2-
-
-
-
4Gain-
QKIp.A273V
Missense
SNP
0.421
2--
QSER1p.N1697Mfs*4
Frame_Shift_Del
DEL
0.400
2--
R3HCC1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
4Gain-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
4Gain-
RAB11FIP4p.T257M
Missense
SNP
0.441
2--
RAB12-
-
-
-
3Gain-
RAB18p.P4S
Missense
SNP
0.286
4Gain-
RAB27B-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB40Cp.K261N
Missense
SNP
0.455
2--
RAB4Bp.R129W
Missense
SNP
0.432
2--
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RADILp.V165M
Missense
SNP
0.645
2--
RAI2p.V474M
Missense
SNP
0.433
NDND-
RALBP1-
-
-
-
3Gain-
RALGAPBp.F971Sfs*53
Frame_Shift_Del
DEL
0.592
2--
RALYL-
-
-
-
3Gain-
RANBP3p.T292M
Missense
SNP
0.462
2--
RANGAP1p.G21Dfs*3
Frame_Shift_Del
DEL
0.565
2--
RAPGEF4p.E389Kfs*10
Frame_Shift_Del
DEL
0.265
2--
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL3p.R39H
Missense
SNP
0.538
2--
RASGEF1A-
-
-
-
3Gain-
RASGRP3p.R549Q
Missense
SNP
0.461
2--
RASL11Bp.R109C
Missense
SNP
0.516
2--
RASSF4-
-
-
-
3Gain-
RAX-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBM10p.R960W
Missense
SNP
0.350
NDND-
RBM12B-
-
-
-
3Gain-
RBM14p.F191Lfs*40
Frame_Shift_Del
DEL
0.381
2--
RBM17-
-
-
-
4Gain-
RBM20p.R1057Q
Missense
SNP
0.698
4Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.493
2--
RBM43p.I136Sfs*4
Frame_Shift_Del
DEL
0.457
2--
RBM46p.R266W
Missense
SNP
0.515
2--
RBM47p.G112S
Missense
SNP
0.489
2--
RBM48p.P217H
Missense
SNP
0.421
2--
RBM4Bp.P154Lfs*24
Frame_Shift_Del
DEL
0.412
2--
RBP3-
-
-
-
3Gain-
RBP4-
-
-
-
4Gain-
RBPMS-
-
-
-
3Gain-
RCAN3p.A151S
Missense
SNP
0.397
2--
RCC1p.R33H
Missense
SNP
0.462
2--
RDH10.
Missense
DEL
0.508
3Gain-
RECQL4-
-
-
-
3Gain-
REEP3-
-
-
-
4Gain-
REEP4-
-
-
-
3Gain-
RELAp.H487Pfs*4
Frame_Shift_Ins
INS
0.278
2--
RELCH-
-
-
-
3Gain-
REREp.P940L
Missense
SNP
0.706
2--
RET-
-
-
-
3Gain-
RETSATp.A586T
Missense
SNP
0.427
2--
RGR-
-
-
-
4Gain-
RGS10-
-
-
-
4Gain-
RGS12p.P1357L
Missense
SNP
0.590
2--
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RHOBTB1-
-
-
-
4Gain-
RHOBTB2-
-
-
-
3Gain-
RHOXF1p.D174Tfs*22
Frame_Shift_Del
DEL
0.403
NDND-
RHPN1-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RINT1p.P247Lfs*8
Frame_Shift_Del
DEL
0.407
2--
RIOK3-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPK4p.A147T
Missense
SNP
0.500
2--
RIT2-
-
-
-
3Gain-
RLFp.R721*
Nonsense
SNP
0.404
2--
RMC1-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RNF113Bp.G104V
Missense
SNP
0.461
2--
RNF121p.R194W
Missense
SNP
0.450
2--
RNF122-
-
-
-
3Gain-
RNF125-
-
-
-
3Gain-
RNF128p.R6M
Missense
SNP
0.476
NDND-
RNF138-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF170-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF20p.R244H
Missense
SNP
0.464
2--
RNLS-
-
-
-
4Gain-
RNMT-
-
-
-
3Gain-
ROBO2p.L601P
Missense
SNP
0.414
2--
ROCK1-
-
-
-
3Gain-
ROS1p.V2276A
p.G1915R
Missense
Missense
SNP
SNP
0.518
0.565
2--
RP1-
-
-
-
3Gain-
RP11-310K10.1p.A353T
Missense
SNP
0.456
NDND-
RP1L1-
-
-
-
3Gain-
RPEL1-
-
-
-
4Gain-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.360
2--
RPL30-
-
-
-
3Gain-
RPL3Lp.A75V
Missense
SNP
0.484
2--
RPL7-
-
-
-
3Gain-
RPL7Ap.K11del
In_Frame_Del
DEL
0.563
2--
RPL8-
-
-
-
3Gain-
RPP30-
-
-
-
4Gain-
RPP38-
-
-
-
4Gain-
RPRD1A-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS24-
-
-
-
4Gain-
RPUSD4p.R235W
Missense
SNP
0.497
2--
RREB1p.S600N
Missense
SNP
0.524
2--
RRM2B-
-
-
-
3Gain-
RRP12-
-
-
-
4Gain-
RRS1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSU1-
-
-
-
4Gain-
RTCAp.T334M
Missense
SNP
0.434
2--
RTF1p.R333*
Nonsense
SNP
0.402
2--
RTKN2-
-
-
-
4Gain-
RTTN-
-
-
-
3Gain-
RUFY2-
-
-
-
4Gain-
RUNX1T1-
-
-
-
3Gain-
SACSp.K1717Nfs*8
Frame_Shift_Del
DEL
0.496
2--
SALL3p.T658M
Missense
SNP
0.605
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD8-
-
-
-
4Gain-
SAR1A-
-
-
-
4Gain-
SARAF-
-
-
-
3Gain-
SBSPON-
-
-
-
3Gain-
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.413
2--
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCART1-
-
-
-
3Gain-
SCD-
-
-
-
4Gain-
SCN8Ap.W942C
Missense
SNP
0.429
2--
SCRIBp.F1211L
Missense
SNP
0.397
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDK1p.R140C
Missense
SNP
0.468
2--
SDR16C5-
-
-
-
3Gain-
SEC11C-
-
-
-
3Gain-
SEC14L5p.A349V
Missense
SNP
0.468
2--
SEC16Bp.V643M
Missense
SNP
0.420
2--
SEC23IP-
-
-
-
4Gain-
SEC24C-
-
-
-
4Gain-
SEC31B-
-
-
-
4Gain-
SEC61A2-
-
-
-
4Gain-
SEH1L-
-
-
-
3Gain-
SELPp.V501I
Missense
SNP
0.292
2--
SEMA4G-
-
-
-
4Gain-
SEMA5Bp.P325L
Missense
SNP
0.404
2--
SEMG1p.A241V
Missense
SNP
0.433
2--
SENP6p.R1072*
Nonsense
SNP
0.373
2--
SENP7p.K545Nfs*11
Frame_Shift_Del
DEL
0.568
2--
SEPHS1-
-
-
-
4Gain-
SERAC1p.V8I
Missense
SNP
0.454
2--
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SETBP1-
-
-
-
3Gain-
SETD1Bp.H8Tfs*27
p.S291N
Frame_Shift_Del
Missense
DEL
SNP
0.414
0.497
2--
SETD5p.S1286Lfs*37
Frame_Shift_Ins
INS
0.283
2--
SEZ6L2p.T77M
Missense
SNP
0.412
2--
SFMBT2-
-
-
-
4Gain-
SFR1-
-
-
-
4Gain-
SFRP1-
-
-
-
3Gain-
SFRP5-
-
-
-
4Gain-
SFTPA1-
-
-
-
4Gain-
SFTPA2-
-
-
-
4Gain-
SFTPC-
-
-
-
3Gain-
SFTPD-
-
-
-
4Gain-
SFXN2p.D75G
Missense
SNP
0.230
4Gain-
SFXN3-
-
-
-
4Gain-
SFXN4-
-
-
-
4Gain-
SGCZ-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
4Gain-
SGO1p.R522Efs*39
p.M325Cfs*28
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.343
0.400
2--
SGPL1-
-
-
-
4Gain-
SH2D4A-
-
-
-
3Gain-
SH2D4B-
-
-
-
4Gain-
SH3PXD2A-
-
-
-
4Gain-
SHARPIN-
-
-
-
3Gain-
SHC2p.P407Rfs*37
Frame_Shift_Del
DEL
0.333
2--
SHISA7p.G359Afs*178
Frame_Shift_Del
DEL
0.576
2--
SHLD2-
-
-
-
4Gain-
SHOC2-
-
-
-
4Gain-
SHROOM2p.R753Q
Missense
SNP
0.480
NDND-
SHROOM4p.K1314Rfs*23
p.R242C
Frame_Shift_Del
Missense
DEL
SNP
0.414
0.456
NDND-
SHTN1-
-
-
-
4Gain-
SIGLEC15-
-
-
-
3Gain-
SIRT1-
-
-
-
4Gain-
SIX5p.A625Pfs*31
Frame_Shift_Del
DEL
0.434
2--
SKA1-
-
-
-
3Gain-
SKIDA1-
-
-
-
4Gain-
SKOR2-
-
-
-
3Gain-
SLAp.R173H
Missense
SNP
0.377
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC16A10p.I282Ffs*9
Frame_Shift_Del
DEL
0.503
2--
SLC16A12-
-
-
-
4Gain-
SLC16A2p.G147R
Missense
SNP
0.564
NDND-
SLC16A9-
-
-
-
4Gain-
SLC18A1-
-
-
-
3Gain-
SLC18A2p.G231V
Missense
SNP
0.368
4Gain-
SLC18A3-
-
-
-
4Gain-
SLC19A3p.R277H
Missense
SNP
0.373
2--
SLC1A7p.T406I
Missense
SNP
0.350
2--
SLC20A2-
-
-
-
3Gain-
SLC22A16p.T87M
Missense
SNP
0.525
2--
SLC22A18p.T93M
Missense
SNP
0.490
2--
SLC22A6p.R192W
Missense
SNP
0.532
2--
SLC25A16-
-
-
-
4Gain-
SLC25A24p.G192R
Missense
SNP
0.515
2--
SLC25A28-
-
-
-
4Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A37-
-
-
-
3Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A1p.R365H
Missense
SNP
0.452
2--
SLC26A7-
-
-
-
3Gain-
SLC29A3-
-
-
-
4Gain-
SLC30A8p.S183R
Missense
SNP
0.517
3Gain-
SLC35G1-
-
-
-
4Gain-
SLC35G4-
-
-
-
3Gain-
SLC35G5-
-
-
-
3Gain-
SLC39A12-
-
-
-
4Gain-
SLC39A13p.A279T
Missense
SNP
0.543
2--
SLC39A14-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
3Gain-
SLC44A4p.V238Wfs*5
Frame_Shift_Del
DEL
0.448
2--
SLC45A1p.P494L
Missense
SNP
0.657
2--
SLC45A4-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC5A6p.R142*
Nonsense
SNP
0.495
2--
SLC6A17p.G110E
Missense
SNP
0.355
2--
SLC7A10p.T158Pfs*12
Frame_Shift_Del
DEL
0.495
2--
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
3Gain-
SLC9C1p.F10Sfs*11
Frame_Shift_Del
DEL
0.429
2--
SLCO4A1p.T297M
Missense
SNP
0.571
2--
SLCO5A1-
-
-
-
3Gain-
SLF2-
-
-
-
4Gain-
SLIT1-
-
-
-
4Gain-
SLIT2p.N929Mfs*46
Frame_Shift_Del
DEL
0.470
2--
SLITRK2p.Q61Pfs*35
Frame_Shift_Ins
INS
0.327
NDND-
SLITRK5p.N762Tfs*12
Frame_Shift_Del
DEL
0.411
2--
SLK-
-
-
-
4Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7p.P209Lfs*115
Frame_Shift_Del
DEL
0.333
3Gain-
SMAP1p.K172Rfs*48
Frame_Shift_Del
DEL
0.413
2--
SMARCA1p.K57del
In_Frame_Del
DEL
0.369
NDND-
SMARCA4p.G271Rfs*16
p.G911D
p.R1157Q
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.304
0.537
0.495
2--
SMARCD1p.R503*
Nonsense
SNP
0.457
2--
SMC2p.K368E
Missense
SNP
0.424
2--
SMC3-
-
-
-
4Gain-
SMCHD1-
-
-
-
3Gain-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM21-
-
-
-
3Gain-
SMNDC1-
-
-
-
4Gain-
SMPD4-
-
-
-
1Loss-
SMPXp.R34Qfs*8
Frame_Shift_Ins
INS
0.311
NDND-
SMYD4p.S737G
Missense
SNP
0.422
2--
SNAI2-
-
-
-
3Gain-
SNCG-
-
-
-
4Gain-
SND1p.R539H
Missense
SNP
0.511
2--
SNED1p.P701Rfs*4
Frame_Shift_Del
DEL
0.314
2--
SNRPBp.R25W
Missense
SNP
0.301
2--
SNRPD1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNW1p.Q15H
Missense
SNP
0.393
2--
SNX16-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SOCS6-
-
-
-
3Gain-
SORBS1-
-
-
-
4Gain-
SORBS3-
-
-
-
3Gain-
SORCS1-
-
-
-
4Gain-
SORCS3-
-
-
-
4Gain-
SOS1p.K1030Nfs*6
Frame_Shift_Del
DEL
0.415
2--
SOX17-
-
-
-
3Gain-
SOX7-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG5p.R259C
Missense
SNP
0.446
2--
SPAG6-
-
-
-
4Gain-
SPATA13p.R896H
Missense
SNP
0.448
2--
SPATA22p.N194Tfs*30
Frame_Shift_Del
DEL
0.402
2--
SPATA31A1p.S1009Y
Missense
SNP
0.562
2--
SPATA31D4p.N780Kfs*6
Frame_Shift_Ins
INS
0.241
2--
SPATC1-
-
-
-
3Gain-
SPDYE2-
-
-
-
1Loss-
SPENp.V1907I
Missense
SNP
0.423
2--
SPIDR-
-
-
-
3Gain-
SPIRE1-
-
-
-
3Gain-
SPNS2p.G79Afs*91
Frame_Shift_Del
DEL
0.417
2--
SPOCK2-
-
-
-
4Gain-
SPON2p.T209M
Missense
SNP
0.455
2--
SPRN-
-
-
-
3Gain-
SPTAN1p.R474W
Missense
SNP
0.494
2--
SPTBN4p.C355Y
Missense
SNP
0.463
2--
SQLE-
-
-
-
3Gain-
SREBF1p.A1026T
Missense
SNP
0.464
2--
SRGAP3p.R585Q
Missense
SNP
0.412
2--
SRGN-
-
-
-
4Gain-
SRPRAp.K170Rfs*33
Frame_Shift_Del
DEL
0.494
2--
SRRTp.G105Wfs*15
Frame_Shift_Ins
INS
0.195
2--
SS18-
-
-
-
3Gain-
SSRP1p.R463W
Missense
SNP
0.412
2--
SSTR1p.R336H
Missense
SNP
0.412
2--
SSTR4p.R252C
Missense
SNP
0.520
2--
SSU72p.D50N
Missense
SNP
0.457
2--
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
ST8SIA6p.A252Pfs*53
Frame_Shift_Del
DEL
0.236
4Gain-
STAB1p.E1712Rfs*8
Frame_Shift_Ins
INS
0.284
2--
STAM-
-
-
-
4Gain-
STAMBPL1-
-
-
-
4Gain-
STAR-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAT5Bp.R430H
Missense
SNP
0.516
2--
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK32C-
-
-
-
3Gain-
STK38p.F382Lfs*70
Frame_Shift_Del
DEL
0.528
2--
STMN2-
-
-
-
3Gain-
STMN4p.R205Q
Missense
SNP
0.540
3Gain-
STN1-
-
-
-
4Gain-
STOX1-
-
-
-
4Gain-
STRBPp.R289*
Nonsense
SNP
0.478
2--
SUFUp.R224Q
Missense
SNP
0.245
4Gain-
SULF1-
-
-
-
3Gain-
SUPT5Hp.Y564H
p.R700Q
Missense
Missense
SNP
SNP
0.419
0.592
2--
SUPV3L1-
-
-
-
4Gain-
SURF2p.R28M
Missense
SNP
0.553
2--
SURF6p.R216H
Missense
SNP
0.471
2--
SUV39H2-
-
-
-
4Gain-
SVIL-
-
-
-
4Gain-
SYBU-
-
-
-
3Gain-
SYCE1-
-
-
-
3Gain-
SYNPOp.S750N
Missense
SNP
0.533
2--
SYNPO2L-
-
-
-
4Gain-
SYT15-
-
-
-
3Gain-
SYT4-
-
-
-
3Gain-
TACC1p.K261Qfs*9
Frame_Shift_Ins
INS
0.395
3Gain-
TACC2-
-
-
-
4Gain-
TACR2-
-
-
-
4Gain-
TAF1Bp.S471Afs*28
Frame_Shift_Del
DEL
0.517
2--
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
4Gain-
TAF4p.X588_splice
Splice_Site
SNP
0.553
2--
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
4Gain-
TAOK3p.A784V
Missense
SNP
0.374
2--
TAS1R1p.L75I
Missense
SNP
0.547
2--
TAS1R2p.R226H
Missense
SNP
0.483
2--
TATDN1-
-
-
-
3Gain-
TBATA-
-
-
-
4Gain-
TBC1D12-
-
-
-
4Gain-
TBC1D31-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCEAL4p.A16V
Missense
SNP
0.500
NDND-
TCERG1L-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF3p.R609W
Missense
SNP
0.410
2--
TCF4-
-
-
-
3Gain-
TCF7L2-
-
-
-
4Gain-
TCIM-
-
-
-
3Gain-
TCP11L2p.L308P
Missense
SNP
0.436
2--
TCTN3-
-
-
-
4Gain-
TDRD1-
-
-
-
4Gain-
TDRP-
-
-
-
3Gain-
TEAD2p.H299Mfs*12
Frame_Shift_Del
DEL
0.428
2--
TECTB-
-
-
-
4Gain-
TENM3p.R1195W
Missense
SNP
0.534
2--
TERF1-
-
-
-
3Gain-
TET1p.R222H
Missense
SNP
0.440
4Gain-
TEX15-
-
-
-
3Gain-
TEX264p.R203W
Missense
SNP
0.447
2--
TEX36-
-
-
-
4Gain-
TFAMp.E148Sfs*2
Frame_Shift_Del
DEL
0.561
4Gain-
TFCP2p.R257Q
Missense
SNP
0.393
2--
TG-
-
-
-
3Gain-
TGIF1-
-
-
-
3Gain-
TGM1p.R46C
Missense
SNP
0.535
2--
TGM7p.R498M
Missense
SNP
0.347
2--
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP8p.L116Cfs*15
Frame_Shift_Del
DEL
0.478
2--
THBS2p.R812*
Nonsense
SNP
0.510
2--
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
4Gain-
THOC1-
-
-
-
3Gain-
THSD7Bp.G987C
Missense
SNP
0.338
2--
TIAL1-
-
-
-
4Gain-
TICAM1p.A568V
Missense
SNP
0.476
2--
TICRRp.R1086*
Nonsense
SNP
0.455
2--
TIE1p.R603H
Missense
SNP
0.491
2--
TIFABp.E143D
Missense
SNP
0.447
2--
TIGD5-
-
-
-
3Gain-
TIMM21-
-
-
-
3Gain-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
4Gain-
TKTL2p.R24Q
Missense
SNP
0.435
2--
TLE2p.S250Qfs*30
Frame_Shift_Ins
INS
0.341
2--
TLL2-
-
-
-
4Gain-
TLN2p.V1160M
p.E2318K
Missense
Missense
SNP
SNP
0.558
0.509
2--
TLX1-
-
-
-
4Gain-
TM2D2-
-
-
-
3Gain-
TM6SF2p.A201T
p.A107V
Missense
Missense
SNP
SNP
0.454
0.458
2--
TM9SF3-
-
-
-
4Gain-
TMED3p.V153I
Missense
SNP
0.430
2--
TMEM131p.D1577G
Missense
SNP
0.498
2--
TMEM155p.S121Ifs*44
Frame_Shift_Del
DEL
0.436
2--
TMEM168p.R258C
Missense
SNP
0.490
2--
TMEM169p.T164M
Missense
SNP
0.514
2--
TMEM181p.F186L
p.G452R
Missense
Missense
SNP
SNP
0.553
0.544
2--
TMEM200Cp.P21Qfs*22
Frame_Shift_Del
DEL
0.244
3Gain-
TMEM231p.S275N
Missense
SNP
0.484
2--
TMEM236-
-
-
-
4Gain-
TMEM239p.G136S
Missense
SNP
0.470
2--
TMEM241-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM254-
-
-
-
4Gain-
TMEM26-
-
-
-
4Gain-
TMEM273-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM92p.Y120Tfs*4
Frame_Shift_Del
DEL
0.440
2--
TMTC2p.Q829Tfs*7
Frame_Shift_Ins
INS
0.312
2--
TMX3-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11Ap.P432L
Missense
SNP
0.718
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNKS-
-
-
-
3Gain-
TNKS2-
-
-
-
4Gain-
TNRC18p.A832P
Missense
SNP
0.448
2--
TNRC6Cp.N615Mfs*45
Frame_Shift_Del
DEL
0.455
2--
TNS1p.R1198Q
Missense
SNP
0.517
2--
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPGS2-
-
-
-
3Gain-
TRAF2p.R486W
Missense
SNP
0.429
2--
TRAM1-
-
-
-
3Gain-
TRAPPC8-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRDMT1-
-
-
-
4Gain-
TRDNp.A435V
Missense
SNP
0.459
2--
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIM10p.R429W
Missense
SNP
0.573
2--
TRIM28p.R470W
Missense
SNP
0.457
2--
TRIM3p.S74L
Missense
SNP
0.445
2--
TRIM35-
-
-
-
3Gain-
TRIM36p.R44H
Missense
SNP
0.500
2--
TRIM55-
-
-
-
3Gain-
TRIM73p.R52C
Missense
SNP
0.302
2--
TRIM8-
-
-
-
4Gain-
TRIOp.R558C
p.L1071P
Missense
Missense
SNP
SNP
0.496
0.462
2--
TRIOBPp.R2039W
Missense
SNP
0.438
2--
TRIP12p.X378_splice
Splice_Site
SNP
0.431
2--
TRIQK-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT5p.R432W
Missense
SNP
0.423
2--
TRMT9B-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPM2p.A1278T
Missense
SNP
0.458
2--
TRPM3p.T944M
Missense
SNP
0.483
2--
TRPS1-
-
-
-
3Gain-
TRUB1-
-
-
-
4Gain-
TSHZ1-
-
-
-
3Gain-
TSHZ3p.A211Pfs*19
Frame_Shift_Del
DEL
0.377
2--
TSNARE1-
-
-
-
3Gain-
TSPAN14-
-
-
-
4Gain-
TSPAN15-
-
-
-
4Gain-
TSPEARp.R67Afs*3
Frame_Shift_Del
DEL
0.474
2--
TSPYL5-
-
-
-
3Gain-
TSR3p.A294Lfs*28
Frame_Shift_Del
DEL
0.414
2--
TSTA3-
-
-
-
3Gain-
TTC14p.R459C
Missense
SNP
0.321
2--
TTC16p.R86H
Missense
SNP
0.484
2--
TTC30Ap.M601Dfs*5
Frame_Shift_Del
DEL
0.446
2--
TTC37p.Y827*
Nonsense
SNP
0.540
2--
TTC39Cp.A444V
Missense
SNP
0.652
3Gain-
TTC6p.L540Sfs*19
p.R923H
Frame_Shift_Del
Missense
DEL
SNP
0.461
0.587
2--
TTC7Ap.T733M
Missense
SNP
0.471
2--
TTI2-
-
-
-
3Gain-
TTNp.P13097Lfs*12
p.K9807Rfs*5
p.R13727H
p.G5061S
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
DEL
DEL
SNP
SNP
0.407
0.560
0.493
0.551
2--
TTPA-
-
-
-
3Gain-
TTR-
-
-
-
3Gain-
TUBAL3-
-
-
-
4Gain-
TUBB4B-
-
-
-
2-AL139099.4--TUBB4B
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
4Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP6p.P1371H
p.R793C
Missense
Missense
SNP
SNP
0.451
0.514
2--
TUSC3-
-
-
-
3Gain-
TVP23Ap.F140Lfs*7
Frame_Shift_Del
DEL
0.400
2--
TWNK-
-
-
-
4Gain-
TWSG1-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4Ap.G128S
Missense
SNP
0.284
3Gain-
TYMS-
-
-
-
3Gain-
TYSND1-
-
-
-
4Gain-
TYW1p.W154*
Nonsense
SNP
0.472
2--
UBA2p.A380T
Missense
SNP
0.472
2--
UBE2D1-
-
-
-
4Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBR4p.R142*
Nonsense
SNP
0.556
2--
UBR5-
-
-
-
3Gain-
UBTD1-
-
-
-
4Gain-
UBXN2B-
-
-
-
3Gain-
UBXN8-
-
-
-
3Gain-
UCMA-
-
-
-
4Gain-
UCN3-
-
-
-
4Gain-
UGT1A8p.P264T
Missense
SNP
0.540
2--
UNC13Ap.R1566W
p.R39W
Missense
Missense
SNP
SNP
0.400
0.477
2--
UNC5B-
-
-
-
4Gain-
UNC5D-
-
-
-
3Gain-
UNKp.R123H
Missense
SNP
0.419
2--
UPF2-
-
-
-
4Gain-
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.526
2--
UPK3BL1-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UROSp.F196Lfs*44
Frame_Shift_Del
DEL
0.258
4Gain-
USH2Ap.R310Q
Missense
SNP
0.459
2--
USP1p.N662Mfs*2
Frame_Shift_Del
DEL
0.296
2--
USP11p.L338F
Missense
SNP
0.333
NDND-
USP14-
-
-
-
3Gain-
USP2p.X413_splice
Splice_Site
INS
0.294
2--
USP40p.Q1160Tfs*20
Frame_Shift_Ins
INS
0.289
2--
USP54-
-
-
-
4Gain-
USP6NL-
-
-
-
4Gain-
USP9Xp.E2102K
Missense
SNP
0.489
NDND-
UTF1-
-
-
-
3Gain-
UTP15p.L425*
Frame_Shift_Del
DEL
0.530
2--
UTP23-
-
-
-
3Gain-
VAPA-
-
-
-
3Gain-
VAX1-
-
-
-
4Gain-
VCANp.W1619*
Nonsense
SNP
0.580
2--
VCL-
-
-
-
4Gain-
VCPIP1-
-
-
-
3Gain-
VDAC2-
-
-
-
4Gain-
VDAC3-
-
-
-
3Gain-
VENTX-
-
-
-
3Gain-
VEZF1p.V470I
Missense
SNP
0.567
2--
VIM-
-
-
-
4Gain-
VIRMA-
-
-
-
3Gain-
VPS13Ap.I1709Nfs*6
p.R161H
Frame_Shift_Ins
Missense
INS
SNP
0.283
0.446
2--
VPS13B-
-
-
-
3Gain-
VPS16p.R321H
Missense
SNP
0.463
2--
VPS18p.A889V
Missense
SNP
0.495
2--
VPS26A-
-
-
-
4Gain-
VPS28-
-
-
-
3Gain-
VPS35p.S179Y
Missense
SNP
0.412
2--
VPS37A-
-
-
-
3Gain-
VPS4B-
-
-
-
3Gain-
VPS51p.V609M
Missense
SNP
0.344
2--
VPS8p.Q877H
Missense
SNP
0.397
2--
VSIR-
-
-
-
4Gain-
VSTM4-
-
-
-
3Gain-
VSX2p.A52V
Missense
SNP
0.390
2--
VTI1A-
-
-
-
4Gain-
VWA2-
-
-
-
4Gain-
VXN-
-
-
-
3Gain-
WAC-
-
-
-
4Gain-
WAPL-
-
-
-
4Gain-
WASHC2A-
-
-
-
4Gain-
WASHC2C-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP11p.G521Wfs*28
Frame_Shift_Ins
INS
0.249
2--
WBP1L-
-
-
-
4Gain-
WDFY4-
-
-
-
3Gain-
WDR11-
-
-
-
4Gain-
WDR37-
-
-
-
4Gain-
WDR47p.V693I
Missense
SNP
0.491
2--
WDR7-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDTC1p.E290Tfs*6
p.V621M
Frame_Shift_Del
Missense
DEL
SNP
0.475
0.401
2--
WDYHV1-
-
-
-
3Gain-
WFDC3p.R66*
Nonsense
SNP
0.555
2--
WISP1p.R161C
Missense
SNP
0.681
3Gain-
WISP3p.K226Nfs*24
Frame_Shift_Del
DEL
0.497
2--
WIZp.R234W
Missense
SNP
0.477
2--
WNK1p.P743T
Missense
SNP
0.405
2--
WNK3p.S649P
p.A403S
Missense
Missense
SNP
SNP
0.491
0.385
NDND-
WNT2p.S95N
Missense
SNP
0.487
2--
WNT4p.K107Q
Missense
SNP
0.439
2--
WNT6p.D289N
Missense
SNP
0.440
2--
WNT8B-
-
-
-
4Gain-
WRN-
-
-
-
3Gain-
WSCD1p.R76Q
Missense
SNP
0.414
2--
WWC2p.M206Cfs*17
p.R380Q
Frame_Shift_Del
Missense
DEL
SNP
0.492
0.555
2--
WWP1-
-
-
-
3Gain-
XIRP2p.N1589T
Missense
SNP
0.467
2--
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPNPEP1-
-
-
-
4Gain-
XPO7-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YLPM1p.G1063D
Missense
SNP
0.459
2--
YME1L1-
-
-
-
4Gain-
YTHDF3-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
ZADH2-
-
-
-
3Gain-
ZBTB1p.K524Sfs*25
Frame_Shift_Del
DEL
0.462
2--
ZBTB10-
-
-
-
3Gain-
ZBTB14p.R30H
Missense
SNP
0.280
3Gain-
ZBTB20p.P692Lfs*43
Frame_Shift_Del
DEL
0.172
2--
ZBTB38p.R917C
Missense
SNP
0.415
2--
ZBTB4p.A958V
Missense
SNP
0.545
2--
ZBTB46p.G517D
Missense
SNP
0.540
2--
ZBTB7Ap.A559V
Missense
SNP
0.343
2--
ZBTB7C-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZCCHC24-
-
-
-
4Gain-
ZCRB1p.K140Rfs*13
Frame_Shift_Del
DEL
0.253
2--
ZDHHC16-
-
-
-
4Gain-
ZDHHC18p.P367L
Missense
SNP
0.458
2--
ZDHHC2-
-
-
-
3Gain-
ZDHHC5p.L657S
Missense
SNP
0.473
2--
ZDHHC6-
-
-
-
4Gain-
ZEB1-
-
-
-
4Gain-
ZFAND1-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX4p.L411Cfs*4
p.P2057Hfs*26
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.556
0.556
3Gain-
ZFP36L2p.A229Rfs*245
p.G144Afs*43
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.234
0.432
2--
ZFP41-
-
-
-
3Gain-
ZFPM2-
-
-
-
3Gain-
ZFYVE27-
-
-
-
4Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZKSCAN2p.A166V
Missense
SNP
0.654
2--
ZMAT4-
-
-
-
3Gain-
ZMIZ1-
-
-
-
4Gain-
ZMYM3p.L85Afs*4
Frame_Shift_Ins
INS
0.306
NDND-
ZMYM6p.N724Mfs*15
Frame_Shift_Del
DEL
0.507
2--
ZMYND11-
-
-
-
4Gain-
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.416
2--
ZNF134p.E208K
Missense
SNP
0.415
2--
ZNF14p.R547*
Nonsense
SNP
0.458
2--
ZNF157p.K53N
Missense
SNP
0.472
NDND-
ZNF16-
-
-
-
3Gain-
ZNF205p.A493V
Missense
SNP
0.394
2--
ZNF22-
-
-
-
3Gain-
ZNF236-
-
-
-
3Gain-
ZNF239-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF248-
-
-
-
4Gain-
ZNF25-
-
-
-
4Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF3p.T99Rfs*4
Frame_Shift_Del
DEL
0.415
2--
ZNF32-
-
-
-
3Gain-
ZNF33A-
-
-
-
4Gain-
ZNF33B-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF365-
-
-
-
4Gain-
ZNF37A-
-
-
-
4Gain-
ZNF384p.P517S
Missense
SNP
0.456
2--
ZNF395-
-
-
-
3Gain-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF407-
-
-
-
3Gain-
ZNF438-
-
-
-
4Gain-
ZNF441p.P418S
Missense
SNP
0.521
2--
ZNF460p.P447L
Missense
SNP
0.469
2--
ZNF485-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF503-
-
-
-
4Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF513p.R489H
Missense
SNP
0.496
2--
ZNF516-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF518A-
-
-
-
4Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF532p.R421Gfs*9
Frame_Shift_Del
DEL
0.538
3Gain-
ZNF549p.G97V
Missense
SNP
0.206
2--
ZNF552p.S172N
Missense
SNP
0.467
2--
ZNF567p.H253Tfs*5
Frame_Shift_Ins
INS
0.285
2--
ZNF572-
-
-
-
3Gain-
ZNF596-
-
-
-
3Gain-
ZNF615p.G361R
Missense
SNP
0.411
2--
ZNF616p.T209Rfs*8
Frame_Shift_Del
DEL
0.522
2--
ZNF623-
-
-
-
3Gain-
ZNF687p.E930del
In_Frame_Del
DEL
0.406
2--
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF703p.A472T
Missense
SNP
0.255
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF71p.R107H
Missense
SNP
0.545
2--
ZNF710p.R386C
Missense
SNP
0.532
2--
ZNF74p.A447T
Missense
SNP
0.469
2--
ZNF777p.R566C
Missense
SNP
0.392
2--
ZNF786p.R377C
Missense
SNP
0.370
2--
ZNF792p.T222I
Missense
SNP
0.442
2--
ZNF808-
-
-
-
1Loss-
ZNF813p.S108N
Missense
SNP
0.472
2--
ZNF814p.K350Nfs*121
Frame_Shift_Del
DEL
0.278
2--
ZNF83-
-
-
-
1Loss-
ZNF865p.A462T
p.S672L
Missense
Missense
SNP
SNP
0.447
0.403
2--
ZNF880p.A332T
Missense
SNP
0.412
2--
ZRANB1-
-
-
-
4Gain-
ZSCAN30-
-
-
-
3Gain-
ZSWIM4p.R679Q
Missense
SNP
0.472
2--
ZSWIM8-
-
-
-
4Gain-
ZWINT-
-
-
-
4Gain-