PDMR-558786~286-R~FJ0D01-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3Gain-
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.600
2--
ABCB6p.G318Vfs*9
Frame_Shift_Del
DEL
0.509
2--
ABCC10p.Q369*
Nonsense
SNP
0.539
2--
ABCC2-
-
-
-
3Gain-
ABCC4p.I1219Sfs*11
Frame_Shift_Del
DEL
0.846
2--
ABCG8p.T401M
Missense
SNP
0.490
2--
ABHD3-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABLIM1-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
3Gain-
AC005324.4-
-
-
-
2-AC005324.4--RNU5B-1
AC007998.2-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC022400.6-
-
-
-
3Gain-
AC067752.1-
-
-
-
3Gain-
AC068896.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
ACAA2-
-
-
-
3Gain-
ACAD11p.R127Q
Missense
SNP
0.444
2--
ACADSB-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACSL5-
-
-
-
3Gain-
ACSM6-
-
-
-
3Gain-
ACTA2-
-
-
-
3Gain-
ACTBp.P332S
Missense
SNP
0.516
2--
ACTR1A-
-
-
-
3Gain-
ACTR2p.R354C
Missense
SNP
0.410
2--
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.449
2--
ADAM12-
-
-
-
3Gain-
ADAM20p.R103Qfs*12
Frame_Shift_Ins
INS
0.293
2--
ADAM21p.V339M
Missense
SNP
0.476
2--
ADAM8-
-
-
-
3Gain-
ADAMTS14-
-
-
-
3Gain-
ADAMTS9p.S1012Afs*75
p.R1350W
Frame_Shift_Del
Missense
DEL
SNP
0.448
0.519
2--
ADAMTSL4p.G780Vfs*62
Frame_Shift_Del
DEL
0.486
2--
ADARB2-
-
-
-
3Gain-
ADCY5p.D192_S193del
In_Frame_Del
DEL
0.306
2--
ADCY9p.P817Rfs*87
Frame_Shift_Del
DEL
0.448
2--
ADCYAP1-
-
-
-
3Gain-
ADD2p.R134Q
Missense
SNP
0.510
2--
ADD3p.R434C
Missense
SNP
0.639
3Gain-
ADGRA1-
-
-
-
3Gain-
ADGRF5p.Y1113H
Missense
SNP
0.449
2--
ADGRL3p.V963Cfs*39
Frame_Shift_Del
DEL
0.505
2--
ADIRF-
-
-
-
3Gain-
ADK-
-
-
-
3Gain-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
3Gain-
ADRA2A-
-
-
-
3Gain-
ADRB1-
-
-
-
3Gain-
AEBP1p.Q255Afs*21
Frame_Shift_Ins
INS
0.270
2--
AFAP1L2-
-
-
-
3Gain-
AFG3L2-
-
-
-
3Gain-
AFMIDp.G71S
Missense
SNP
0.442
2--
AGAP2p.V630M
Missense
SNP
0.504
2--
AGAP4-
-
-
-
3Gain-
AGAP5-
-
-
-
3Gain-
AGAP6-
-
-
-
3Gain-
AGAP9-
-
-
-
3Gain-
AGLp.N1304Kfs*7
Frame_Shift_Ins
INS
0.271
2--
AGO1p.L17Cfs*99
Frame_Shift_Del
DEL
0.480
2--
AHCYL1p.R433Q
Missense
SNP
0.386
2--
AHRRp.R401M
Missense
SNP
0.500
2--
AIF1p.P137H
Missense
SNP
0.537
2--
AIFM2-
-
-
-
3Gain-
AIM1p.P734L
Missense
SNP
0.517
NDND-
AKAIN1-
-
-
-
3Gain-
AKAP9p.K39Rfs*17
p.V3673A
Frame_Shift_Del
Missense
DEL
SNP
0.446
0.454
2--
AKR1B1p.A209T
Missense
SNP
0.500
2--
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AL117339.5-
-
-
-
3Gain-
AL133352.1-
-
-
-
3Gain-
AL133353.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
3Gain-
AL355075.4-
-
-
-
NDNDAL355075.4--HIST1H1E
AL355315.1-
-
-
-
3Gain-
AL356053.1p.I188*
Frame_Shift_Del
DEL
0.318
NDND-
AL360181.3-
-
-
-
3Gain-
AL365273.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
3Gain-
ALDH18A1-
-
-
-
3Gain-
ALDH1A2p.R85C
Missense
SNP
0.522
2--
ALDH3B2p.L213M
Missense
SNP
0.484
2--
ALDOCp.R22Q
Missense
SNP
0.493
2--
ALKBH4p.C267Y
Missense
SNP
0.552
2--
ALOX5-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
ALS2CR11p.N837Ifs*9
p.K729Nfs*4
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.528
0.516
NDND-
ALX1p.E146K
Missense
SNP
0.650
2--
AMTp.L155I
Missense
SNP
0.533
2--
ANAPC16-
-
-
-
3Gain-
ANK2p.A1819V
Missense
SNP
0.468
2--
ANK3-
-
-
-
3Gain-
ANKEF1p.G295D
Missense
SNP
0.571
2--
ANKFN1p.R763K
Missense
SNP
0.511
2--
ANKRD1-
-
-
-
3Gain-
ANKRD11p.A2265Pfs*72
Frame_Shift_Del
DEL
0.400
2--
ANKRD12-
-
-
-
3Gain-
ANKRD16-
-
-
-
3Gain-
ANKRD2-
-
-
-
3Gain-
ANKRD22-
-
-
-
3Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD27p.H464Y
Missense
SNP
0.564
2--
ANKRD29-
-
-
-
3Gain-
ANKRD30A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD31p.G512Vfs*20
Frame_Shift_Del
DEL
0.545
2--
ANKRD62-
-
-
-
3Gain-
ANKS3p.R550H
Missense
SNP
0.343
2--
ANO6p.V698I
Missense
SNP
0.582
2--
ANTXRL-
-
-
-
3Gain-
ANXA11-
-
-
-
3Gain-
ANXA7-
-
-
-
3Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
AOC1p.R190Gfs*18
Frame_Shift_Del
DEL
0.444
2--
AP1G1p.R8W
Missense
SNP
0.497
2--
AP1S1p.D122Mfs*11
Frame_Shift_Del
DEL
0.118
2--
AP2A2p.P670Lfs*67
p.A376T
Frame_Shift_Del
Missense
DEL
SNP
0.556
0.476
2--
AP3B1p.I597Yfs*3
Frame_Shift_Del
DEL
0.276
2--
AP3M1-
-
-
-
3Gain-
APBB1IP-
-
-
-
3Gain-
APCp.E902K
p.P1604L
Missense
Missense
SNP
SNP
0.492
0.485
2--
APCDD1-
-
-
-
3Gain-
APOBRp.G267C
Missense
SNP
0.587
2--
APOL2p.R87Q
Missense
SNP
0.363
2--
AQP2p.T125M
Missense
SNP
0.490
2--
AQP4-
-
-
-
3Gain-
ARAP2p.A469T
p.G250*
Missense
Nonsense
SNP
SNP
0.500
0.506
2--
ARGLU1p.R45H
p.A186T
Missense
Missense
SNP
SNP
0.454
0.537
2--
ARHGAP12-
-
-
-
3Gain-
ARHGAP19-
-
-
-
3Gain-
ARHGAP19-SLIT1-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP39p.V443I
Missense
SNP
0.439
2--
ARHGAP5p.F935Lfs*5
Frame_Shift_Del
DEL
0.064
2--
ARHGAP6p.G745R
p.R433Q
Missense
Missense
SNP
SNP
0.553
0.459
NDND-
ARHGEF1p.D382N
Missense
SNP
0.391
2--
ARHGEF10Lp.T495M
Missense
SNP
0.385
2--
ARHGEF40p.R1076Gfs*18
Frame_Shift_Del
DEL
0.521
2--
ARID1Ap.P1175Hfs*5
p.D1850Gfs*4
p.X751_splice
Frame_Shift_Del
Frame_Shift_Ins
Splice_Site
DEL
INS
SNP
0.476
0.337
0.494
2--
ARID1Bp.Q1810*
Nonsense
SNP
0.512
2--
ARID3Ap.X499_splice
Splice_Site
SNP
0.535
2--
ARID4Bp.Q1041*
Nonsense
SNP
0.491
2--
ARID5B-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2p.R78Q
Missense
SNP
0.473
2--
ARL3-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMH3-
-
-
-
3Gain-
ARMS2-
-
-
-
3Gain-
AS3MT-
-
-
-
3Gain-
ASAH2-
-
-
-
3Gain-
ASAH2B-
-
-
-
3Gain-
ASB11p.L32Ffs*14
Frame_Shift_Ins
INS
0.379
NDND-
ASB13-
-
-
-
3Gain-
ASCC1-
-
-
-
3Gain-
ASH1Lp.I1341N
Missense
SNP
0.504
2--
ASXL3-
-
-
-
3Gain-
ATAD1-
-
-
-
3Gain-
ATE1-
-
-
-
3Gain-
ATMp.S214Pfs*16
Frame_Shift_Del
DEL
0.425
2--
ATOH7-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5F1E-
-
-
-
2-SNHG1--ATP5F1E
ATP5MD-
-
-
-
3Gain-
ATP6V1Dp.R30Q
Missense
SNP
0.546
2--
ATP8A1p.R725H
Missense
SNP
0.504
2--
ATP8A2p.V506M
Missense
SNP
0.496
2--
ATP8B1-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATRNL1-
-
-
-
3Gain-
ATRXp.V608I
Missense
SNP
0.059
NDND-
ATXN7p.P176L
Missense
SNP
0.329
2--
AVILp.G118Vfs*6
p.T480M
Frame_Shift_Del
Missense
DEL
SNP
0.449
0.476
2--
AVL9p.G397A
Missense
SNP
0.403
2--
AVPI1-
-
-
-
3Gain-
AVPR1Bp.D104N
Missense
SNP
0.450
2--
B3GNT6p.G221D
Missense
SNP
0.547
2--
B4GALNT4p.T982M
Missense
SNP
0.508
2--
B4GALT6-
-
-
-
3Gain-
BAG3-
-
-
-
3Gain-
BAHCC1p.G1603R
Missense
SNP
0.516
2--
BAIAP2L2p.V396M
Missense
SNP
0.438
2--
BAMBI-
-
-
-
3Gain-
BANPp.A232T
Missense
SNP
0.519
2--
BBIP1-
-
-
-
3Gain-
BCCIP-
-
-
-
3Gain-
BCHEp.N134Mfs*5
Frame_Shift_Del
DEL
0.403
2--
BCKDHAp.T211M
Missense
SNP
0.450
2--
BCL11Ap.L360Sfs*61
Frame_Shift_Del
DEL
0.145
2--
BCL2-
-
-
-
3Gain-
BCL9p.P516Lfs*5
Frame_Shift_Del
DEL
0.532
2--
BCL9Lp.P1127Hfs*21
p.A77Gfs*14
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.509
0.329
2--
BCRp.R232W
Missense
SNP
0.452
2--
BEND7-
-
-
-
3Gain-
BICC1-
-
-
-
3Gain-
BIN3p.K113Sfs*13
Frame_Shift_Del
DEL
0.306
2--
BIRC7p.Q54*
Nonsense
SNP
0.483
2--
BLNK-
-
-
-
3Gain-
BLOC1S2-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMPR1A-
-
-
-
3Gain-
BMS1-
-
-
-
3Gain-
BNIP3-
-
-
-
3Gain-
BOD1L2-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORCS7-
-
-
-
3Gain-
BORCS7-ASMT-
-
-
-
3Gain-
BPIFB4p.V74Sfs*9
p.R289W
Frame_Shift_Ins
Missense
INS
SNP
0.273
0.465
2--
BRAT1p.G413Afs*34
Frame_Shift_Del
DEL
0.364
2--
BRD4p.R444C
Missense
SNP
0.529
2--
BRPF1p.Q938Sfs*5
Frame_Shift_Del
DEL
0.464
2--
BTAF1-
-
-
-
3Gain-
BTBD16-
-
-
-
3Gain-
BTRC-
-
-
-
3Gain-
BUB3-
-
-
-
3Gain-
BVESp.H320Y
Missense
SNP
0.080
2--
C10orf105-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
3Gain-
C10orf53-
-
-
-
3Gain-
C10orf55-
-
-
-
3Gain-
C10orf62-
-
-
-
3Gain-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
3Gain-
C10orf82-
-
-
-
3Gain-
C10orf88-
-
-
-
3Gain-
C10orf90-
-
-
-
3Gain-
C10orf99-
-
-
-
3Gain-
C17orf74p.P442Rfs*25
Frame_Shift_Del
DEL
0.469
NDND-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C18orf8p.C394Hfs*4
Frame_Shift_Del
DEL
0.526
NDND-
C1Dp.N120Mfs*61
Frame_Shift_Del
DEL
0.429
2--
C1QBp.C31Y
Missense
SNP
0.400
2--
C1QL3p.R180H
Missense
SNP
0.321
3Gain-
C21orf58p.T203M
Missense
SNP
0.522
2--
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.271
2--
CABCOCO1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1Ep.R1594H
Missense
SNP
0.487
2--
CACNA1Ip.P665L
Missense
SNP
0.591
2--
CACNA2D3p.A1023S
Missense
SNP
0.345
2--
CACNA2D4p.R441H
Missense
SNP
0.165
2--
CACNB2p.T254M
p.R608H
Missense
Missense
SNP
SNP
0.343
0.690
3Gain-
CACUL1-
-
-
-
3Gain-
CADp.R2064C
Missense
SNP
0.408
2--
CALCRLp.F16Lfs*2
Frame_Shift_Del
DEL
0.465
2--
CALHM1-
-
-
-
3Gain-
CALHM2-
-
-
-
3Gain-
CALHM3-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALY-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK2Bp.A558V
Missense
SNP
0.343
2--
CAMK2G-
-
-
-
3Gain-
CAMKK1p.R510*
Nonsense
SNP
0.433
2--
CAMSAP2p.R1179W
Missense
SNP
0.471
2--
CAMTA2p.P889Lfs*9
p.P547L
Frame_Shift_Del
Missense
DEL
SNP
0.471
0.519
2--
CANXp.R274H
Missense
SNP
0.465
2--
CARD14p.E929K
Missense
SNP
0.512
2--
CARSp.R453L
Missense
SNP
0.459
2--
CASC1p.I554M
Missense
SNP
0.460
2--
CASC10-
-
-
-
3Gain-
CASP7-
-
-
-
3Gain-
CASS4p.R67H
Missense
SNP
0.436
2--
CASZ1p.T715M
Missense
SNP
0.511
2--
CATIPp.A255T
Missense
SNP
0.490
2--
CBFA2T2p.E402D
Missense
SNP
0.462
2--
CBLN2-
-
-
-
3Gain-
CC2D2B-
-
-
-
3Gain-
CCAR1p.Q596*
Nonsense
SNP
0.379
3Gain-
CCBE1p.V92I
Missense
SNP
0.341
3Gain-
CCDC102Bp.I270Nfs*31
Frame_Shift_Ins
INS
0.372
3Gain-
CCDC150p.R971Q
Missense
SNP
0.489
2--
CCDC153p.P200Lfs*4
Frame_Shift_Del
DEL
0.464
2--
CCDC168p.Q3471Tfs*12
p.N2569Kfs*26
Frame_Shift_Ins
Frame_Shift_Ins
INS
INS
0.303
0.285
2--
CCDC172-
-
-
-
3Gain-
CCDC178-
-
-
-
3Gain-
CCDC186-
-
-
-
3Gain-
CCDC191p.E82D
Missense
SNP
0.556
2--
CCDC3-
-
-
-
3Gain-
CCDC6-
-
-
-
3Gain-
CCDC68-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCDC74B-
-
-
-
1Loss-
CCDC96p.R524H
Missense
SNP
0.525
2--
CCER2p.E232del
In_Frame_Del
DEL
0.422
2--
CCNJ-
-
-
-
3Gain-
CCNY-
-
-
-
3Gain-
CCR7p.A238V
Missense
SNP
0.514
2--
CCSER2-
-
-
-
3Gain-
CCT2p.R376C
Missense
SNP
0.404
2--
CD163L1p.P890L
p.V721M
Missense
Missense
SNP
SNP
0.498
0.137
2--
CD19p.X120_splice
Splice_Site
DEL
0.529
2--
CD226-
-
-
-
3Gain-
CD55p.T363M
Missense
SNP
0.584
2--
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.437
2--
CDC123-
-
-
-
3Gain-
CDC42EP4p.V144M
Missense
SNP
0.464
2--
CDH17p.S645Lfs*3
Frame_Shift_Del
DEL
0.378
2--
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH23-
-
-
-
3Gain-
CDH7p.R264Q
Missense
SNP
0.706
3Gain-
CDHR1-
-
-
-
3Gain-
CDK1-
-
-
-
3Gain-
CDK19p.S62L
Missense
SNP
0.481
2--
CDKN2Bp.L93Pfs*70
Frame_Shift_Ins
INS
0.327
2--
CDNF-
-
-
-
3Gain-
CDS1p.F263Lfs*6
Frame_Shift_Del
DEL
0.430
2--
CDYLp.D296Y
Missense
SNP
0.096
2--
CELF2-
-
-
-
3Gain-
CELF3p.V279I
Missense
SNP
0.557
2--
CELF4-
-
-
-
3Gain-
CELSR3p.R1336H
Missense
SNP
0.506
2--
CEP192p.R763C
Missense
SNP
0.355
3Gain-
CEP250p.V728I
Missense
SNP
0.491
2--
CEP55-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP85p.T746I
Missense
SNP
0.442
2--
CETN1-
-
-
-
3Gain-
CFAP43-
-
-
-
3Gain-
CFAP45p.R403H
Missense
SNP
0.475
2--
CFAP46-
-
-
-
3Gain-
CFAP53p.F148L
Missense
SNP
0.653
3Gain-
CFAP58-
-
-
-
3Gain-
CFAP70-
-
-
-
3Gain-
CH25H-
-
-
-
3Gain-
CH507-42P11.8p.R587Q
Missense
SNP
0.530
NDND-
CHAT-
-
-
-
3Gain-
CHCHD1-
-
-
-
3Gain-
CHD7p.T1133M
Missense
SNP
0.453
2--
CHIAp.Q62*
Nonsense
SNP
0.451
2--
CHMP1B-
-
-
-
3Gain-
CHMP2Ap.C173G
Missense
SNP
0.523
2--
CHRNA6p.Y220C
Missense
SNP
0.456
2--
CHRNDp.R244H
Missense
SNP
0.456
2--
CHST15-
-
-
-
3Gain-
CHST3-
-
-
-
3Gain-
CHST5p.A150V
Missense
SNP
0.500
2--
CHST8p.R179H
Missense
SNP
0.455
2--
CHST9-
-
-
-
3Gain-
CHUK-
-
-
-
3Gain-
CIDEA-
-
-
-
3Gain-
CILPp.G3R
Missense
SNP
0.445
2--
CILP2p.R336*
Nonsense
SNP
0.514
2--
CISD1-
-
-
-
3Gain-
CLDN6p.A102T
Missense
SNP
0.342
2--
CLP1p.R302H
Missense
SNP
0.484
2--
CLRN3-
-
-
-
3Gain-
CLUL1-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNNM1-
-
-
-
3Gain-
CNNM2-
-
-
-
3Gain-
CNOT1p.R1929*
Nonsense
SNP
0.370
2--
CNOT10p.X754_splice
Splice_Site
SNP
0.412
2--
COG3p.V465I
Missense
SNP
0.500
2--
COL11A1p.P546Lfs*87
p.V1658I
Frame_Shift_Del
Missense
DEL
SNP
0.372
0.537
2--
COL13A1-
-
-
-
3Gain-
COL17A1p.P1157S
p.R177Q
Missense
Missense
SNP
SNP
0.094
0.299
3Gain-
COL18A1p.P772Qfs*16
Frame_Shift_Del
DEL
0.570
2--
COL21A1p.G632Rfs*24
Frame_Shift_Ins
INS
0.314
2--
COL22A1p.P727L
Missense
SNP
0.472
2--
COL3A1p.K275Rfs*9
Frame_Shift_Del
DEL
0.463
2--
COL6A2p.R734C
Missense
SNP
0.491
2--
COL6A6p.E1487G
Missense
SNP
0.532
2--
COL7A1p.G2025A
Missense
SNP
0.112
2--
COL8A2p.P94Lfs*143
Frame_Shift_Del
DEL
0.476
2--
COLEC12-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMPp.P416L
Missense
SNP
0.470
2--
COMTD1-
-
-
-
3Gain-
COPS8p.A117T
Missense
SNP
0.483
2--
COQ6p.P373L
Missense
SNP
0.493
2--
CORO7p.S433I
Missense
SNP
0.634
2--
COX15-
-
-
-
3Gain-
CPA6p.L310I
Missense
SNP
0.519
2--
CPAMD8p.V1068Wfs*111
Frame_Shift_Del
DEL
0.434
2--
CPEB3-
-
-
-
3Gain-
CPLX4-
-
-
-
3Gain-
CPN1-
-
-
-
3Gain-
CPNE8p.V396Sfs*9
Frame_Shift_Del
DEL
0.468
2--
CPS1p.K133N
Missense
SNP
0.516
2--
CPSF3p.E31K
Missense
SNP
0.526
2--
CPSF4p.R238W
Missense
SNP
0.413
2--
CPSF6p.V156Cfs*6
Frame_Shift_Ins
INS
0.284
2--
CPXM2-
-
-
-
3Gain-
CREBBPp.S1680del
In_Frame_Del
DEL
0.482
2--
CREM-
-
-
-
3Gain-
CRTAC1-
-
-
-
3Gain-
CRY2p.R362H
Missense
SNP
0.513
2--
CSGALNACT2-
-
-
-
3Gain-
CSNK1Ep.T235M
Missense
SNP
0.475
2--
CSPG4p.A1018T
Missense
SNP
0.625
2--
CSRNP1p.G476D
Missense
SNP
0.476
2--
CST2p.R46H
Missense
SNP
0.528
2--
CSTF2T-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTBP2p.R759Q
p.A602T
Missense
Missense
SNP
SNP
0.356
0.386
3Gain-
CTDP1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTNNA3-
-
-
-
3Gain-
CTNND2p.P524L
Missense
SNP
0.487
2--
CTSFp.V474M
Missense
SNP
0.500
2--
CUBNp.S2214N
Missense
SNP
0.051
3Gain-
CUEDC2-
-
-
-
3Gain-
CUL2-
-
-
-
3Gain-
CUL3p.R128H
Missense
SNP
0.397
2--
CUTC-
-
-
-
3Gain-
CUZD1-
-
-
-
3Gain-
CWC27p.V335*
Frame_Shift_Del
DEL
0.492
2--
CWF19L1-
-
-
-
3Gain-
CXCL12-
-
-
-
3Gain-
CXorf56p.A62V
Missense
SNP
0.471
NDND-
CXXC1-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYP17A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
3Gain-
CYP26C1-
-
-
-
3Gain-
CYP2C18-
-
-
-
3Gain-
CYP2C19-
-
-
-
3Gain-
CYP2C8-
-
-
-
3Gain-
CYP2C9-
-
-
-
3Gain-
CYP2E1-
-
-
-
3Gain-
DAB1p.G342D
Missense
SNP
0.504
2--
DAPK1p.R730M
Missense
SNP
0.532
2--
DAPP1p.S73Cfs*8
Frame_Shift_Del
DEL
0.454
2--
DBF4p.L409Afs*14
Frame_Shift_Ins
INS
0.284
2--
DCC-
-
-
-
3Gain-
DCHS1p.R2892Q
Missense
SNP
0.467
2--
DCHS2p.S968R
Missense
SNP
0.482
2--
DCLRE1A-
-
-
-
3Gain-
DCLRE1C-
-
-
-
3Gain-
DCNp.T151Nfs*9
Frame_Shift_Ins
INS
0.306
2--
DDAH2p.V201M
Missense
SNP
0.472
2--
DDIT4-
-
-
-
3Gain-
DDX17p.R439H
Missense
SNP
0.433
2--
DDX21-
-
-
-
3Gain-
DDX50-
-
-
-
3Gain-
DDX52p.E518A
Missense
SNP
0.548
2--
DDX59p.N577Ifs*6
Frame_Shift_Del
DEL
0.497
2--
DDX60Lp.Y1625H
Missense
SNP
0.431
2--
DEPP1-
-
-
-
3Gain-
DET1p.R218H
Missense
SNP
0.504
2--
DGKHp.R273H
Missense
SNP
0.473
2--
DGKIp.R791H
Missense
SNP
0.421
2--
DHRS12p.H120Y
Missense
SNP
0.381
2--
DHTKD1-
-
-
-
3Gain-
DHX32-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DKK1-
-
-
-
3Gain-
DLG5-
-
-
-
3Gain-
DLGAP1-
-
-
-
3Gain-
DMBT1-
-
-
-
3Gain-
DMDp.N3378Tfs*24
Frame_Shift_Del
DEL
0.469
NDND-
DNA2-
-
-
-
3Gain-
DNAH17p.D1228N
Missense
SNP
0.378
2--
DNAH5p.A244T
Missense
SNP
0.456
2--
DNAJB12-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC11p.R273*
Nonsense
SNP
0.523
2--
DNAJC12-
-
-
-
3Gain-
DNAJC9-
-
-
-
3Gain-
DNMBP-
-
-
-
3Gain-
DNMT3Bp.R538H
Missense
SNP
0.534
2--
DNTT-
-
-
-
3Gain-
DOC2Ap.K312del
In_Frame_Del
DEL
0.438
2--
DOCK1-
-
-
-
3Gain-
DOCK11p.Y2012*
Nonsense
SNP
0.471
NDND-
DOCK7p.P526L
Missense
SNP
0.475
2--
DOK1p.V175M
Missense
SNP
0.439
2--
DOK6-
-
-
-
3Gain-
DONSONp.R27Q
Missense
SNP
0.441
2--
DPCD-
-
-
-
3Gain-
DPRXp.V95Sfs*7
Frame_Shift_Del
DEL
0.505
2--
DPYSL2p.F20Lfs*104
p.R481H
Frame_Shift_Del
Missense
DEL
SNP
0.467
0.495
2--
DPYSL4-
-
-
-
3Gain-
DRGX-
-
-
-
3Gain-
DROSHAp.R254H
Missense
SNP
0.520
2--
DSC1p.A574T
Missense
SNP
0.282
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSPp.R866C
p.R1915C
Missense
Missense
SNP
SNP
0.516
0.510
2--
DSTYKp.L732del
In_Frame_Del
DEL
0.509
2--
DTNAp.A498Qfs*40
Frame_Shift_Del
DEL
0.651
3Gain-
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.431
2--
DUPD1-
-
-
-
3Gain-
DUS3Lp.V440I
Missense
SNP
0.558
2--
DUSP13-
-
-
-
3Gain-
DUSP5-
-
-
-
3Gain-
DUSP7p.G42E
Missense
SNP
0.571
2--
DYDC1-
-
-
-
3Gain-
DYDC2-
-
-
-
3Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1H1p.R2831H
Missense
SNP
0.525
2--
DYRK1Ap.X317_splice
Splice_Site
DEL
0.434
2--
EBF3-
-
-
-
3Gain-
EBF4p.A553T
Missense
SNP
0.481
2--
EBLN1-
-
-
-
3Gain-
ECD-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
3Gain-
ECI1p.T268M
Missense
SNP
0.433
2--
EDRF1p.N302Mfs*47
Frame_Shift_Del
DEL
0.555
3Gain-
EEF1AKMT2-
-
-
-
3Gain-
EFHC2p.E202D
Missense
SNP
0.587
NDND-
EFNB3p.Q331Rfs*39
Frame_Shift_Del
DEL
0.546
2--
EGR2-
-
-
-
3Gain-
EHBP1L1p.R50H
Missense
SNP
0.543
2--
EIF3A-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
3Gain-
EIF4G3p.V563Sfs*12
Frame_Shift_Ins
INS
0.304
2--
EIF5AL1-
-
-
-
3Gain-
ELAC1-
-
-
-
3Gain-
ELAC2p.A272T
Missense
SNP
0.559
2--
ELF4p.Q341Rfs*30
Frame_Shift_Del
DEL
0.464
NDND-
ELMO1p.G674R
Missense
SNP
0.569
2--
ELOA2-
-
-
-
3Gain-
ELOA3-
-
-
-
3Gain-
ELOA3B-
-
-
-
3Gain-
ELOA3D-
-
-
-
3Gain-
ELOVL3-
-
-
-
3Gain-
ELOVL7p.R115C
Missense
SNP
0.548
2--
ELP2-
-
-
-
3Gain-
EMILIN2-
-
-
-
3Gain-
EML6p.A1888T
Missense
SNP
0.594
2--
EMX2-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENO4p.R551C
Missense
SNP
0.387
3Gain-
ENOPH1p.X29_splice
p.A120V
Splice_Site
Missense
SNP
SNP
0.406
0.459
2--
ENOSF1-
-
-
-
3Gain-
ENPP6p.R35H
Missense
SNP
0.457
2--
ENTPD1-
-
-
-
3Gain-
ENTPD6p.G444S
Missense
SNP
0.523
2--
ENTPD7-
-
-
-
3Gain-
EPAS1p.P334S
Missense
SNP
0.492
2--
EPB41L3-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPHA2p.T526M
Missense
SNP
0.445
2--
EPPINp.Y107C
Missense
SNP
0.414
2--
ERBINp.D727Ifs*9
p.K988Rfs*24
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.522
0.449
2--
ERCC6-
-
-
-
3Gain-
ERCC8p.A7T
Missense
SNP
0.469
2--
ERICH3p.N557I
Missense
SNP
0.516
2--
ERLIN1-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESPL1p.A35V
Missense
SNP
0.426
2--
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.309
2--
EVC2p.T699M
Missense
SNP
0.507
2--
EVI2Ap.A150V
Missense
SNP
0.557
2--
EXOC6-
-
-
-
3Gain-
EXOSC1-
-
-
-
3Gain-
EXPH5p.R407M
Missense
SNP
0.466
2--
EXTL1p.R31H
Missense
SNP
0.458
2--
EZH1p.A379V
Missense
SNP
0.479
2--
F13A1p.P565L
Missense
SNP
0.553
2--
FAAP100p.L21Pfs*12
Frame_Shift_Ins
INS
0.298
2--
FAHD2Ap.P281Qfs*26
Frame_Shift_Del
DEL
0.292
2--
FAM107B-
-
-
-
3Gain-
FAM111Bp.R94H
Missense
SNP
0.540
2--
FAM118Bp.L217F
Missense
SNP
0.483
2--
FAM129Ap.X392_splice
Splice_Site
SNP
0.500
2--
FAM135Ap.S1485L
Missense
SNP
0.438
2--
FAM13C-
-
-
-
3Gain-
FAM149B1-
-
-
-
3Gain-
FAM160B1-
-
-
-
3Gain-
FAM166Ap.L210R
Missense
SNP
0.513
2--
FAM170B-
-
-
-
3Gain-
FAM171A1-
-
-
-
3Gain-
FAM175Ap.N303Ifs*17
Frame_Shift_Del
DEL
0.500
NDND-
FAM186Bp.E667K
Missense
SNP
0.496
2--
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.374
2--
FAM193Bp.P574Lfs*11
Frame_Shift_Del
DEL
0.416
2--
FAM198Bp.R184W
Missense
SNP
0.472
2--
FAM204A-
-
-
-
3Gain-
FAM208B-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM241B-
-
-
-
3Gain-
FAM24A-
-
-
-
3Gain-
FAM24B-
-
-
-
3Gain-
FAM45A-
-
-
-
3Gain-
FAM46Bp.R288W
Missense
SNP
0.458
NDND-
FAM47Bp.A360T
Missense
SNP
0.472
NDND-
FAM47Cp.A981T
Missense
SNP
0.464
NDND-
FAM53B-
-
-
-
3Gain-
FAM69C-
-
-
-
3Gain-
FAM71E2p.P40L
Missense
SNP
0.508
2--
FAM81Bp.G330C
Missense
SNP
0.401
2--
FAM98Ap.K174Nfs*2
Frame_Shift_Del
DEL
0.504
2--
FANK1-
-
-
-
3Gain-
FAS-
-
-
-
3Gain-
FAT1p.D2158Rfs*20
Frame_Shift_Ins
INS
0.348
2--
FAT3p.R1186H
Missense
SNP
0.627
2--
FAT4p.A454V
Missense
SNP
0.469
2--
FBH1-
-
-
-
3Gain-
FBLN2p.R1180C
Missense
SNP
0.491
2--
FBN2p.R1068W
Missense
SNP
0.446
2--
FBXL15-
-
-
-
3Gain-
FBXL19p.L381Yfs*86
Frame_Shift_Del
DEL
0.382
2--
FBXO15-
-
-
-
3Gain-
FBXW4-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FER1L6p.I975T
Missense
SNP
0.442
2--
FFAR4-
-
-
-
3Gain-
FGD4p.R431H
Missense
SNP
0.530
2--
FGF5p.G148Efs*45
Frame_Shift_Del
DEL
0.358
2--
FGF6p.V127M
Missense
SNP
0.492
2--
FGF8-
-
-
-
3Gain-
FGFBP3-
-
-
-
3Gain-
FGFR2-
-
-
-
3Gain-
FHAD1p.S26T
Missense
SNP
0.455
2--
FHOD1p.P585Lfs*43
Frame_Shift_Del
DEL
0.468
2--
FHOD3-
-
-
-
3Gain-
FLGp.G2782D
Missense
SNP
0.248
2--
FLI1p.M348L
Missense
SNP
0.526
2--
FLNAp.A1188V
Missense
SNP
0.467
NDND-
FLT4p.P619Lfs*20
p.P30L
Frame_Shift_Del
Missense
DEL
SNP
0.499
0.446
2--
FO681492.1-
-
-
-
3Gain-
FOXI1p.R143C
Missense
SNP
0.418
2--
FOXI2p.A77T
Missense
SNP
0.324
3Gain-
FOXP1p.L414*
p.R36W
Frame_Shift_Del
Missense
DEL
SNP
0.507
0.484
2--
FRA10AC1p.R232Efs*96
Frame_Shift_Del
DEL
0.429
3Gain-
FRAT1-
-
-
-
3Gain-
FRAT2-
-
-
-
3Gain-
FREM1p.R507H
Missense
SNP
0.500
2--
FRG2B-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMPD2-
-
-
-
3Gain-
FSIP2p.V5823Yfs*24
Frame_Shift_Del
DEL
0.415
2--
FUOM-
-
-
-
3Gain-
FUT11-
-
-
-
3Gain-
FUT5p.R14C
Missense
SNP
0.473
2--
FXYD4-
-
-
-
3Gain-
FZD8-
-
-
-
3Gain-
G6PC2p.R79Q
Missense
SNP
0.502
2--
GABRB3p.L170Pfs*11
Frame_Shift_Ins
INS
0.280
2--
GABRPp.R293H
Missense
SNP
0.559
2--
GAD2-
-
-
-
3Gain-
GAL3ST1p.A387T
Missense
SNP
0.414
2--
GALNT1-
-
-
-
3Gain-
GALR1-
-
-
-
3Gain-
GAPTp.P101L
Missense
SNP
0.500
2--
GAREM1-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GBF1-
-
-
-
3Gain-
GBGT1p.R243H
Missense
SNP
0.482
2--
GDAP1L1p.E199K
Missense
SNP
0.496
2--
GDF10-
-
-
-
3Gain-
GDF2-
-
-
-
3Gain-
GDF5p.R325C
Missense
SNP
0.439
2--
GDI2-
-
-
-
3Gain-
GEMp.R56Q
Missense
SNP
0.433
2--
GEMIN2p.K146Nfs*24
Frame_Shift_Del
DEL
0.462
2--
GFI1p.R275C
Missense
SNP
0.092
2--
GFOD1p.A335T
Missense
SNP
0.529
2--
GFRA1-
-
-
-
3Gain-
GGA1p.P632Hfs*59
Frame_Shift_Del
DEL
0.441
2--
GGNp.A115V
Missense
SNP
0.374
2--
GHITM-
-
-
-
3Gain-
GIMAP8p.R81H
Missense
SNP
0.516
2--
GIPC1p.P50Lfs*48
Frame_Shift_Del
DEL
0.333
2--
GJD4-
-
-
-
3Gain-
GLOD4p.R50Q
Missense
SNP
0.625
2--
GLRX3-
-
-
-
3Gain-
GLTSCR1p.E1438K
Missense
SNP
0.471
NDND-
GLUD1-
-
-
-
3Gain-
GLYCTKp.A481T
Missense
SNP
0.514
2--
GLYR1p.R381Afs*15
Frame_Shift_Ins
INS
0.321
2--
GM2Ap.R169H
Missense
SNP
0.469
2--
GMEB1p.A499V
Missense
SNP
0.495
2--
GNAL-
-
-
-
3Gain-
GNB1Lp.V108M
Missense
SNP
0.559
2--
GNMTp.D272N
Missense
SNP
0.566
2--
GOLGA4p.E727D
Missense
SNP
0.396
2--
GOLGA7B-
-
-
-
3Gain-
GOLPH3p.T148M
Missense
SNP
0.449
2--
GOT1-
-
-
-
3Gain-
GPAA1p.X389_splice
Splice_Site
SNP
0.506
2--
GPAM-
-
-
-
3Gain-
GPIp.E393Sfs*20
Frame_Shift_Del
DEL
0.487
2--
GPR119p.A294T
Missense
SNP
0.369
NDND-
GPR158-
-
-
-
3Gain-
GPR26-
-
-
-
3Gain-
GPR34p.S62Cfs*23
Frame_Shift_Del
DEL
0.480
NDND-
GPR85p.A311V
Missense
SNP
0.467
2--
GPRASP2p.T88M
Missense
SNP
0.463
NDND-
GPRIN2-
-
-
-
3Gain-
GRB10p.A166T
Missense
SNP
0.387
2--
GREB1L-
-
-
-
3Gain-
GRID1-
-
-
-
3Gain-
GRK5-
-
-
-
3Gain-
GRP-
-
-
-
3Gain-
GSK3Ap.V133M
Missense
SNP
0.529
2--
GSTO1-
-
-
-
3Gain-
GSTO2-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GUCY1B3p.L472I
Missense
SNP
0.510
NDND-
H2AFY2-
-
-
-
3Gain-
HABP2-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HADHBp.K474N
Missense
SNP
0.416
2--
HAUS1-
-
-
-
3Gain-
HBE1p.A139V
Missense
SNP
0.547
2--
HCN3p.R502H
Missense
SNP
0.559
2--
HDAC5p.I933Lfs*14
Frame_Shift_Del
DEL
0.482
2--
HDGFp.S218Lfs*?
Frame_Shift_Del
DEL
0.600
2--
HDHD2-
-
-
-
3Gain-
HDHD3p.Q92H
Missense
SNP
0.556
2--
HECTD1p.I2041Lfs*27
Frame_Shift_Del
DEL
0.423
2--
HECTD2-
-
-
-
3Gain-
HELLS-
-
-
-
3Gain-
HELZp.A149T
Missense
SNP
0.440
2--
HERC2p.A335T
Missense
SNP
0.575
2--
HERC4-
-
-
-
3Gain-
HFEp.L122M
Missense
SNP
0.486
2--
HHEX-
-
-
-
3Gain-
HIC2p.T549M
Missense
SNP
0.438
2--
HIF1AN-
-
-
-
3Gain-
HIST1H1E-
-
-
-
2-AL355075.4--HIST1H1E
HIST1H4Cp.T72I
Missense
SNP
0.407
2--
HK1p.T605M
Missense
SNP
0.301
3Gain-
HKDC1-
-
-
-
3Gain-
HLA-Fp.A203T
Missense
SNP
0.491
2--
HMSD-
-
-
-
3Gain-
HMX2-
-
-
-
3Gain-
HMX3-
-
-
-
3Gain-
HNRNPF-
-
-
-
3Gain-
HNRNPH3-
-
-
-
3Gain-
HNRNPKp.R268W
Missense
SNP
0.454
2--
HOGA1-
-
-
-
3Gain-
HOXA11p.I299Lfs*30
Frame_Shift_Del
DEL
0.066
2--
HOXA3p.Q302Pfs*42
Frame_Shift_Ins
INS
0.371
2--
HPCAp.R118Q
Missense
SNP
0.531
2--
HPS1p.M325Wfs*6
Frame_Shift_Del
DEL
0.253
3Gain-
HPS6-
-
-
-
3Gain-
HPSEp.F532Lfs*2
Frame_Shift_Del
DEL
0.509
2--
HPSE2p.A315T
Missense
SNP
0.286
3Gain-
HRASp.A18V
Missense
SNP
0.492
2--
HRGp.R201L
Missense
SNP
0.377
2--
HRH4-
-
-
-
3Gain-
HS3ST1p.R193H
Missense
SNP
0.125
2--
HS6ST2p.R94C
Missense
SNP
0.473
NDND-
HSBP1L1-
-
-
-
3Gain-
HSPA12A-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HTR3Ap.S178L
Missense
SNP
0.587
2--
HTR7-
-
-
-
3Gain-
HTRA1-
-
-
-
3Gain-
HTTp.R416H
Missense
SNP
0.378
2--
HUNKp.E596K
Missense
SNP
0.527
2--
ICAM5p.R434H
Missense
SNP
0.529
2--
IDE-
-
-
-
3Gain-
IDH1p.R132H
Missense
SNP
0.382
2--
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IFIT1-
-
-
-
3Gain-
IFIT1B-
-
-
-
3Gain-
IFIT2-
-
-
-
3Gain-
IFIT3-
-
-
-
3Gain-
IFIT5-
-
-
-
3Gain-
IFNL2p.F137L
p.R152W
Missense
Missense
SNP
SNP
0.059
0.438
2--
IGF1Rp.S915L
Missense
SNP
0.563
2--
IGF2BP1p.G541R
Missense
SNP
0.565
2--
IKZF5-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL17RCp.W167R
Missense
SNP
0.538
2--
IL17RDp.A453V
Missense
SNP
0.559
2--
IL2RA-
-
-
-
3Gain-
IL31RAp.G534Efs*7
Frame_Shift_Del
DEL
0.455
2--
ILKAPp.S202Qfs*52
Frame_Shift_Del
DEL
0.349
2--
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
INA-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INPP5A-
-
-
-
3Gain-
INPP5F-
-
-
-
3Gain-
INSM2p.H309N
Missense
SNP
0.536
2--
INSYN2-
-
-
-
3Gain-
INTS5p.S1010del
In_Frame_Del
DEL
0.518
2--
INTS6Lp.R305Q
Missense
SNP
0.538
NDND-
INVSp.N1061Kfs*20
Frame_Shift_Ins
INS
0.304
2--
IPMK-
-
-
-
3Gain-
IRF8p.S34I
Missense
SNP
0.507
2--
IRGCp.V89I
Missense
SNP
0.440
2--
IRS1p.R998Vfs*13
Frame_Shift_Del
DEL
0.408
2--
ISL2p.G173E
Missense
SNP
0.513
2--
ISM1p.A412V
Missense
SNP
0.511
2--
ITGA8-
-
-
-
3Gain-
ITGAVp.X283_splice
Splice_Site
SNP
0.533
2--
ITGAXp.R426Afs*20
Frame_Shift_Del
DEL
0.453
2--
ITGB1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITPRIP-
-
-
-
3Gain-
JAK1p.P430Rfs*2
p.R997W
p.R108Q
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.485
0.459
0.466
2--
JAKMIP3-
-
-
-
3Gain-
JCAD-
-
-
-
3Gain-
JMJD1C-
-
-
-
3Gain-
JPH2p.A595V
Missense
SNP
0.526
2--
KANK3p.D792N
Missense
SNP
0.438
2--
KAT6B-
-
-
-
3Gain-
KATNA1p.A428V
Missense
SNP
0.558
2--
KATNAL2-
-
-
-
3Gain-
KAZALD1-
-
-
-
3Gain-
KBTBD13p.T162M
Missense
SNP
0.505
2--
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.436
2--
KCNC4p.R413W
Missense
SNP
0.530
2--
KCNG2-
-
-
-
3Gain-
KCNH2p.W497*
p.R472H
Nonsense
Missense
SNP
SNP
0.407
0.434
2--
KCNH5p.V58I
Missense
SNP
0.580
2--
KCNIP2-
-
-
-
3Gain-
KCNJ4p.P433L
Missense
SNP
0.526
2--
KCNK15p.R259H
Missense
SNP
0.359
2--
KCNK18-
-
-
-
3Gain-
KCNMA1-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD10p.R308Q
Missense
SNP
0.406
2--
KCTD18p.S301R
Missense
SNP
0.545
2--
KCTD8p.L209R
Missense
SNP
0.400
2--
KDM4Cp.Y1011Mfs*16
Frame_Shift_Del
DEL
0.448
2--
KDM5Ap.G1200Dfs*9
p.R674Q
Frame_Shift_Del
Missense
DEL
SNP
0.456
0.419
2--
KDSR-
-
-
-
3Gain-
KIAA1161p.R673H
Missense
SNP
0.503
NDND-
KIAA1217p.R976Gfs*16
p.A233T
Frame_Shift_Del
Missense
DEL
SNP
0.625
0.349
3Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1522p.A247T
Missense
SNP
0.429
2--
KIAA1549p.L283*
Frame_Shift_Del
DEL
0.411
2--
KIAA1614p.P50Qfs*15
Frame_Shift_Del
DEL
0.408
2--
KIAA2026p.K740Nfs*16
Frame_Shift_Del
DEL
0.387
2--
KIF11-
-
-
-
3Gain-
KIF13Ap.A364T
Missense
SNP
0.509
2--
KIF1BP-
-
-
-
3Gain-
KIF20B-
-
-
-
3Gain-
KIF21Bp.V33I
Missense
SNP
0.409
2--
KIF27p.A1067V
Missense
SNP
0.482
2--
KIF5B-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLHL1p.G35Efs*31
Frame_Shift_Del
DEL
0.429
2--
KLHL14-
-
-
-
3Gain-
KLHL23p.C126Lfs*2
Frame_Shift_Ins
INS
0.312
2--
KLHL29p.Y227C
Missense
SNP
0.541
2--
KLHL42p.C399Vfs*44
Frame_Shift_Del
DEL
0.420
2--
KLK15p.R130C
Missense
SNP
0.543
2--
KLLN-
-
-
-
3Gain-
KMT2Bp.R1400C
Missense
SNP
0.509
2--
KMT2Cp.S143Vfs*3
p.P1838H
Frame_Shift_Del
Missense
DEL
SNP
0.476
0.451
2--
KMT2Dp.P2354Lfs*30
p.R5086*
p.A4599V
Frame_Shift_Del
Nonsense
Missense
DEL
SNP
SNP
0.507
0.470
0.364
2--
KMT2Ep.M1354*
Frame_Shift_Del
DEL
0.479
2--
KNDC1p.Q1704*
Nonsense
SNP
0.642
3Gain-
KRBOX1p.Q77Sfs*6
Frame_Shift_Del
DEL
0.551
2--
KRT34p.R376W
Missense
SNP
0.479
2--
KYAT3p.I153T
Missense
SNP
0.490
2--
L1CAMp.P90H
Missense
SNP
0.473
NDND-
L3MBTL4-
-
-
-
3Gain-
LAMA1p.N496Tfs*27
Frame_Shift_Del
DEL
0.336
3Gain-
LAMA3p.R1841H
Missense
SNP
0.652
3Gain-
LAMC3p.R152H
Missense
SNP
0.531
2--
LARP4B-
-
-
-
3Gain-
LBX1-
-
-
-
3Gain-
LCLAT1p.N222Mfs*21
Frame_Shift_Del
DEL
0.525
2--
LCOR-
-
-
-
3Gain-
LCTp.A952T
Missense
SNP
0.578
2--
LDB1-
-
-
-
3Gain-
LDB3-
-
-
-
3Gain-
LDLRAD4-
-
-
-
3Gain-
LEFTY2p.P286Rfs*41
Frame_Shift_Del
DEL
0.467
2--
LEPp.G8R
Missense
SNP
0.534
2--
LGI1-
-
-
-
3Gain-
LGR4p.R304C
Missense
SNP
0.445
2--
LHPP-
-
-
-
3Gain-
LHX2p.T374Pfs*5
Frame_Shift_Del
DEL
0.505
2--
LHX9p.R271*
Nonsense
SNP
0.513
2--
LILRA2p.P287L
Missense
SNP
0.410
2--
LIMA1p.T537Lfs*38
Frame_Shift_Del
DEL
0.408
2--
LIPA-
-
-
-
3Gain-
LIPEp.E943D
Missense
SNP
0.504
2--
LIPF-
-
-
-
3Gain-
LIPG-
-
-
-
3Gain-
LIPJ-
-
-
-
3Gain-
LIPK-
-
-
-
3Gain-
LIPM-
-
-
-
3Gain-
LIPN-
-
-
-
3Gain-
LMAN1-
-
-
-
3Gain-
LOXHD1-
-
-
-
3Gain-
LOXL3p.R148C
Missense
SNP
0.545
2--
LOXL4p.E431D
Missense
SNP
0.298
3Gain-
LPAp.R1464Q
Missense
SNP
0.500
2--
LPAR5p.R78C
Missense
SNP
0.465
2--
LPIN2-
-
-
-
3Gain-
LPOp.G515Afs*9
Frame_Shift_Del
DEL
0.548
2--
LRBAp.R1992Q
Missense
SNP
0.457
2--
LRFN2p.T500M
Missense
SNP
0.109
2--
LRIT1-
-
-
-
3Gain-
LRIT2-
-
-
-
3Gain-
LRMDA-
-
-
-
3Gain-
LRP1p.L3628Cfs*155
p.R1628H
Frame_Shift_Del
Missense
DEL
SNP
0.472
0.476
2--
LRP1Bp.G1820E
p.V73A
Missense
Missense
SNP
SNP
0.560
0.535
2--
LRRC18-
-
-
-
3Gain-
LRRC20-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC3Bp.T201Lfs*17
Frame_Shift_Del
DEL
0.479
2--
LRRC46p.P282H
Missense
SNP
0.530
2--
LRRC53p.N547Ifs*12
Frame_Shift_Del
DEL
0.116
2--
LRRIQ3p.K244Nfs*17
Frame_Shift_Del
DEL
0.415
2--
LRRTM3-
-
-
-
3Gain-
LYSTp.R3449Q
Missense
SNP
0.430
2--
LYZL1p.G102S
Missense
SNP
0.297
3Gain-
LYZL2-
-
-
-
3Gain-
LZTR1p.A392V
Missense
SNP
0.462
2--
LZTS1p.P108S
Missense
SNP
0.482
2--
LZTS2-
-
-
-
3Gain-
MACF1p.R4914H
Missense
SNP
0.496
2--
MAGEB6p.G130D
Missense
SNP
0.769
NDND-
MAGEC3p.V585I
Missense
SNP
0.503
NDND-
MAGED2p.X362_splice
Splice_Site
SNP
0.498
NDND-
MALRD1-
-
-
-
3Gain-
MALT1-
-
-
-
3Gain-
MAOAp.R454*
Nonsense
SNP
0.600
NDND-
MAP1Sp.S595*
p.D296N
Frame_Shift_Ins
Missense
INS
SNP
0.346
0.610
2--
MAP3K7CLp.A16T
Missense
SNP
0.498
2--
MAP3K8-
-
-
-
3Gain-
MAP4K3p.G190Vfs*16
Frame_Shift_Del
DEL
0.460
2--
MAPK4-
-
-
-
3Gain-
MAPK8-
-
-
-
3Gain-
MAPK8IP2p.R461*
Nonsense
SNP
0.404
2--
MAPKAPK3p.R31Afs*47
Frame_Shift_Ins
INS
0.250
2--
MAPRE2-
-
-
-
3Gain-
MARCH5-
-
-
-
3Gain-
MARCH8-
-
-
-
3Gain-
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.326
2--
MARVELD1-
-
-
-
3Gain-
MAST1p.G1280D
Missense
SNP
0.476
2--
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
3Gain-
MATN4p.R394H
Missense
SNP
0.474
2--
MAZp.F14Lfs*34
Frame_Shift_Ins
INS
0.330
2--
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBL2-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTPS1p.G751R
Missense
SNP
0.488
2--
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCCC1p.A670V
Missense
SNP
0.511
2--
MCHR2p.R140*
Nonsense
SNP
0.486
2--
MCM10-
-
-
-
3Gain-
MCM4p.T629Qfs*18
Frame_Shift_Del
DEL
0.574
2--
MCM5p.R114Q
Missense
SNP
0.453
2--
MCMBP-
-
-
-
3Gain-
MCPH1p.T468Pfs*32
Frame_Shift_Del
DEL
0.462
2--
MCTP1p.F877Ifs*4
Frame_Shift_Ins
INS
0.265
2--
MCU-
-
-
-
3Gain-
ME2-
-
-
-
3Gain-
MEFVp.A507T
Missense
SNP
0.389
2--
MEGF6p.A1440Hfs*78
Frame_Shift_Del
DEL
0.431
2--
MEIG1-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MESDC1p.A72T
Missense
SNP
0.449
NDND-
MESTp.R167Q
Missense
SNP
0.472
2--
METTL4-
-
-
-
3Gain-
METTL9p.L110M
Missense
SNP
0.417
2--
MEX3Bp.Y55Rfs*21
Frame_Shift_Del
DEL
0.491
2--
MEX3C-
-
-
-
3Gain-
MFSD1p.R58W
Missense
SNP
0.472
2--
MFSD13A-
-
-
-
3Gain-
MFSD4Bp.C202Vfs*4
Frame_Shift_Del
DEL
0.505
2--
MGMT-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MICAL1p.G115R
Missense
SNP
0.613
2--
MICAL3p.R1405Gfs*33
Frame_Shift_Del
DEL
0.543
2--
MICALCLp.S51Afs*49
p.R261Q
Frame_Shift_Del
Missense
DEL
SNP
0.492
0.494
NDND-
MICU1p.R263C
Missense
SNP
0.331
3Gain-
MICU3p.R5*
Nonsense
SNP
0.521
2--
MINDY3-
-
-
-
3Gain-
MINPP1-
-
-
-
3Gain-
MISPp.G116R
Missense
SNP
0.486
2--
MKI67-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLC1p.L217M
Missense
SNP
0.522
2--
MLLT10-
-
-
-
3Gain-
MLLT3p.R556C
Missense
SNP
0.555
2--
MLLT4p.R1577C
Missense
SNP
0.524
NDND-
MLNRp.G268R
Missense
SNP
0.516
2--
MLXIPp.R214C
p.A498T
Missense
Missense
SNP
SNP
0.453
0.439
2--
MMP21-
-
-
-
3Gain-
MMRN2-
-
-
-
3Gain-
MMS19-
-
-
-
3Gain-
MOCOS-
-
-
-
3Gain-
MOGAT1p.G112E
Missense
SNP
0.496
2--
MORF4L1p.A252V
Missense
SNP
0.424
2--
MORN4-
-
-
-
3Gain-
MPP7-
-
-
-
3Gain-
MPPE1p.E83Gfs*40
Frame_Shift_Ins
INS
0.243
3Gain-
MRC1-
-
-
-
3Gain-
MRO-
-
-
-
3Gain-
MRPL43-
-
-
-
3Gain-
MRPS16-
-
-
-
3Gain-
MSMB-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSS51-
-
-
-
3Gain-
MST1Rp.V898M
Missense
SNP
0.480
2--
MTA1p.R682C
Missense
SNP
0.587
2--
MTCL1-
-
-
-
3Gain-
MTG1-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTSS1Lp.G560Afs*34
Frame_Shift_Del
DEL
0.518
2--
MUC15p.K20Nfs*12
Frame_Shift_Del
DEL
0.410
2--
MUC21p.H538Tfs*18
Frame_Shift_Del
DEL
0.465
2--
MUC5ACp.M5088I
Missense
SNP
0.513
2--
MUC5Bp.P3687L
Missense
SNP
0.317
2--
MXI1-
-
-
-
3Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.559
2--
MYADMp.A220T
Missense
SNP
0.465
2--
MYCBP2p.G3497*
Nonsense
SNP
0.484
2--
MYCT1p.E66*
Nonsense
SNP
0.394
2--
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.464
2--
MYH10p.Q886R
Missense
SNP
0.509
2--
MYH11p.A649T
Missense
SNP
0.377
2--
MYH9p.L812I
Missense
SNP
0.482
2--
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL7p.Q79R
Missense
SNP
0.502
2--
MYO1Gp.R37C
Missense
SNP
0.368
2--
MYO3A-
-
-
-
3Gain-
MYO5Ap.I1440Lfs*4
Frame_Shift_Del
DEL
0.453
2--
MYO5B-
-
-
-
3Gain-
MYO7Bp.P107L
Missense
SNP
0.458
2--
MYOFp.I1430V
Missense
SNP
0.324
3Gain-
MYOGp.S77P
Missense
SNP
0.505
2--
MYOM1-
-
-
-
3Gain-
MYOM3p.E1430K
Missense
SNP
0.511
2--
MYOZ1-
-
-
-
3Gain-
MYPNp.I891*
Frame_Shift_Del
DEL
0.304
3Gain-
MZT2B-
-
-
-
1Loss-
NAA35p.K567Rfs*6
Frame_Shift_Del
DEL
0.361
2--
NADSYN1p.V454I
Missense
SNP
0.446
2--
NANOS1-
-
-
-
3Gain-
NAP1L5p.A32V
Missense
SNP
0.469
2--
NAPG-
-
-
-
3Gain-
NARSp.V536M
Missense
SNP
0.366
3Gain-
NBPF1p.A354V
Missense
SNP
0.058
2--
NCAPD3p.R834H
Missense
SNP
0.447
2--
NCKIPSDp.F631del
In_Frame_Del
DEL
0.422
2--
NCOA2p.V1419M
Missense
SNP
0.493
2--
NCOA3p.Q78*
Nonsense
SNP
0.562
2--
NCOA4-
-
-
-
3Gain-
NDC80p.T571M
Missense
SNP
0.594
3Gain-
NDST2p.L191Yfs*12
Frame_Shift_Del
DEL
0.218
3Gain-
NDUFB8-
-
-
-
3Gain-
NDUFS7p.A187T
Missense
SNP
0.432
2--
NDUFV2-
-
-
-
3Gain-
NEBL-
-
-
-
3Gain-
NEDD4Lp.N156Mfs*51
Frame_Shift_Del
DEL
0.632
3Gain-
NEK1p.D1179Y
Missense
SNP
0.473
2--
NEK4p.R743W
Missense
SNP
0.461
2--
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEURL1-
-
-
-
3Gain-
NEURL1Bp.R533Q
Missense
SNP
0.485
2--
NEURL4p.L1256Cfs*12
p.E504Rfs*38
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.423
0.082
2--
NEUROD6p.K83Rfs*35
Frame_Shift_Del
DEL
0.479
2--
NEUROG3-
-
-
-
3Gain-
NFATC1-
-
-
-
3Gain-
NFE2p.R300Q
Missense
SNP
0.517
2--
NFKB2-
-
-
-
3Gain-
NHLRC2-
-
-
-
3Gain-
NHSL2p.S123L
Missense
SNP
0.446
NDND-
NIPAL3p.R133C
Missense
SNP
0.522
2--
NKAPLp.R127Dfs*8
Frame_Shift_Del
DEL
0.472
2--
NKTRp.N766Ifs*30
Frame_Shift_Del
DEL
0.374
2--
NKX1-2-
-
-
-
3Gain-
NKX2-1p.A201V
Missense
SNP
0.573
2--
NKX2-3-
-
-
-
3Gain-
NKX6-2-
-
-
-
3Gain-
NLRC5p.R1500W
Missense
SNP
0.564
2--
NLRP2p.R587Q
Missense
SNP
0.458
2--
NLRP8p.E619G
Missense
SNP
0.577
2--
NMT2-
-
-
-
3Gain-
NOC3L-
-
-
-
3Gain-
NODAL-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOLC1-
-
-
-
3Gain-
NOS2p.R670H
Missense
SNP
0.516
2--
NOTCH1p.Q462*
Nonsense
SNP
0.518
2--
NOVA1p.K210N
Missense
SNP
0.509
2--
NPC1p.D466N
Missense
SNP
0.309
3Gain-
NPFFR1-
-
-
-
3Gain-
NPM3-
-
-
-
3Gain-
NPRL3p.Y531H
Missense
SNP
0.491
2--
NPS-
-
-
-
3Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR2F1p.N263D
Missense
SNP
0.514
2--
NR3C2p.V618A
Missense
SNP
0.437
2--
NRAPp.A539V
Missense
SNP
0.385
3Gain-
NRBF2-
-
-
-
3Gain-
NRG1p.E79*
Nonsense
SNP
0.495
2--
NRG3-
-
-
-
3Gain-
NRKp.Q410H
p.Q809R
Missense
Missense
SNP
SNP
0.481
0.528
NDND-
NRP1-
-
-
-
3Gain-
NSD1p.M1531Cfs*43
Frame_Shift_Del
DEL
0.378
2--
NSF-
-
-
-
1Loss-
NSMCE1p.V27M
Missense
SNP
0.475
2--
NSMCE4A-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NT5C2-
-
-
-
3Gain-
NTNG2p.G144S
Missense
SNP
0.524
2--
NTRK1p.R347H
Missense
SNP
0.511
2--
NUDT13-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUP133p.K968del
In_Frame_Del
DEL
0.513
2--
NXNp.A140T
Missense
SNP
0.490
2--
NXPH4p.G210Afs*166
Frame_Shift_Del
DEL
0.439
2--
OAT-
-
-
-
3Gain-
OBSCNp.G2909E
Missense
SNP
0.542
2--
OGA-
-
-
-
3Gain-
OGDHL-
-
-
-
3Gain-
OIT3-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
OPALIN-
-
-
-
3Gain-
OPN4-
-
-
-
3Gain-
OPRK1p.G13D
Missense
SNP
0.611
2--
OPTN-
-
-
-
3Gain-
OR10C1p.A231V
Missense
SNP
0.454
2--
OR13A1-
-
-
-
3Gain-
OR13C3p.A149T
Missense
SNP
0.450
2--
OR13H1p.R298W
Missense
SNP
0.439
NDND-
OR14C36p.F105Lfs*28
Frame_Shift_Del
DEL
0.414
2--
OR1A2p.R122*
Nonsense
SNP
0.503
2--
OR1S2p.I26T
Missense
SNP
0.524
2--
OR2J2p.N6Mfs*21
Frame_Shift_Del
DEL
0.398
2--
OR4C12p.R258C
Missense
SNP
0.556
2--
OR4D6p.T241M
Missense
SNP
0.484
2--
OR4D9p.S116C
Missense
SNP
0.561
2--
OR4L1p.K228Nfs*55
Frame_Shift_Del
DEL
0.393
2--
OR51B5p.M63I
Missense
SNP
0.435
2--
OR6C75p.R221W
Missense
SNP
0.458
2--
OR6N1p.R165C
Missense
SNP
0.466
2--
OR8K3p.F311Lfs*?
Frame_Shift_Del
DEL
0.388
2--
ORMDL3p.G21D
Missense
SNP
0.569
2--
OSBPL1A-
-
-
-
3Gain-
OSBPL2p.I182Sfs*68
Frame_Shift_Del
DEL
0.116
2--
OTUD1-
-
-
-
3Gain-
OTUD4p.E908Nfs*5
Frame_Shift_Del
DEL
0.398
2--
P2RX5p.Y338C
Missense
SNP
0.516
2--
P3H2p.K430Sfs*6
Frame_Shift_Del
DEL
0.470
2--
P4HA1-
-
-
-
3Gain-
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.509
2--
PALD1-
-
-
-
3Gain-
PANK1-
-
-
-
3Gain-
PAOX-
-
-
-
3Gain-
PAPSS2-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARD3Bp.R932G
Missense
SNP
0.550
2--
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
3Gain-
PARP9p.A55T
Missense
SNP
0.400
2--
PAX2-
-
-
-
3Gain-
PAX7p.A259V
Missense
SNP
0.562
2--
PBLD-
-
-
-
3Gain-
PBX1p.G124R
Missense
SNP
0.482
2--
PCp.R453Q
Missense
SNP
0.432
2--
PCBD1-
-
-
-
3Gain-
PCDH12p.L685Yfs*7
Frame_Shift_Del
DEL
0.475
2--
PCDH15p.K1416N
Missense
SNP
0.120
3Gain-
PCDHA2p.A2V
Missense
SNP
0.428
2--
PCDHA4p.A686T
Missense
SNP
0.527
2--
PCDHA6p.R428W
Missense
SNP
0.531
2--
PCDHB16p.I142Yfs*7
Frame_Shift_Del
DEL
0.447
2--
PCDHB4p.G536S
Missense
SNP
0.439
2--
PCDHGA3p.A578V
Missense
SNP
0.424
2--
PCGF5-
-
-
-
3Gain-
PCGF6-
-
-
-
3Gain-
PCK1p.I612Rfs*5
Frame_Shift_Ins
INS
0.278
2--
PCLOp.L2443Vfs*15
p.T1689Qfs*16
p.S3436G
p.S1052L
Frame_Shift_Ins
Frame_Shift_Del
Missense
Missense
INS
DEL
SNP
SNP
0.259
0.479
0.495
0.483
2--
PCNX1p.E466K
Missense
SNP
0.469
2--
PCSK1Np.A31Rfs*7
Frame_Shift_Del
DEL
0.306
NDND-
PCSK9p.R93H
Missense
SNP
0.487
2--
PCYOX1p.R484C
Missense
SNP
0.457
2--
PDCD11-
-
-
-
3Gain-
PDCD4-
-
-
-
3Gain-
PDE5Ap.H617Y
Missense
SNP
0.463
2--
PDE6C-
-
-
-
3Gain-
PDLIM1-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDX1p.S231P
Missense
SNP
0.500
2--
PDZD2p.K104Qfs*38
Frame_Shift_Ins
INS
0.275
2--
PDZD7-
-
-
-
3Gain-
PDZD8-
-
-
-
3Gain-
PDZRN3p.A947T
Missense
SNP
0.571
2--
PEG3p.S403L
Missense
SNP
0.505
2--
PEX5p.R241W
Missense
SNP
0.538
2--
PFKFB3-
-
-
-
3Gain-
PFKPp.R265Gfs*2
p.I320V
Frame_Shift_Del
Missense
DEL
SNP
0.299
0.652
3Gain-
PGAM1-
-
-
-
3Gain-
PGAP2p.R314*
Nonsense
SNP
0.532
2--
PHC2p.R656H
Missense
SNP
0.083
2--
PHF13p.A145T
Missense
SNP
0.490
2--
PHF21Ap.P652Lfs*104
Frame_Shift_Del
DEL
0.450
2--
PHKG2p.R71W
Missense
SNP
0.483
2--
PHLPP1-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHIPL-
-
-
-
3Gain-
PI4K2A-
-
-
-
3Gain-
PIAS2-
-
-
-
3Gain-
PIEZO2-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGRp.R296K
Missense
SNP
0.143
2--
PIK3AP1-
-
-
-
3Gain-
PIK3C2Ap.A916T
Missense
SNP
0.515
2--
PIK3C3-
-
-
-
3Gain-
PIK3CDp.C355Y
Missense
SNP
0.507
2--
PIK3R4p.V448I
Missense
SNP
0.483
2--
PIP4K2A-
-
-
-
3Gain-
PIP5KL1p.R9Afs*47
Frame_Shift_Del
DEL
0.639
2--
PITPNM3p.R424C
Missense
SNP
0.467
2--
PITRM1-
-
-
-
3Gain-
PITX3-
-
-
-
3Gain-
PIWIL3p.R256H
Missense
SNP
0.533
2--
PKD2p.R896H
Missense
SNP
0.562
2--
PKD2L1-
-
-
-
3Gain-
PKN2p.E854D
Missense
SNP
0.509
2--
PLA2G12B-
-
-
-
3Gain-
PLAC9-
-
-
-
3Gain-
PLATp.T46M
Missense
SNP
0.554
2--
PLAU-
-
-
-
3Gain-
PLCE1-
-
-
-
3Gain-
PLD3p.A402V
Missense
SNP
0.505
2--
PLD5p.V376I
Missense
SNP
0.454
2--
PLECp.T3608M
p.E2305*
p.R609H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.449
0.461
0.527
2--
PLEKHA1-
-
-
-
3Gain-
PLEKHO1p.Q256Rfs*6
Frame_Shift_Del
DEL
0.384
2--
PLEKHS1-
-
-
-
3Gain-
PLPP4-
-
-
-
3Gain-
PLXDC1p.R230H
Missense
SNP
0.170
2--
PLXDC2-
-
-
-
3Gain-
PLXNA1p.D1478N
Missense
SNP
0.491
2--
PMAIP1-
-
-
-
3Gain-
PMS2p.R199C
Missense
SNP
0.461
2--
PNISRp.R697Gfs*15
Frame_Shift_Del
DEL
0.557
2--
PNLIP-
-
-
-
3Gain-
PNLIPRP1-
-
-
-
3Gain-
PNLIPRP2-
-
-
-
3Gain-
PNLIPRP3-
-
-
-
3Gain-
PNPLA2p.A432T
Missense
SNP
0.570
2--
POLI-
-
-
-
3Gain-
POLL-
-
-
-
3Gain-
POLR3A-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F2p.S577G
Missense
SNP
0.414
2--
PPA1-
-
-
-
3Gain-
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.527
2--
PPFIA2p.R50W
Missense
SNP
0.493
2--
PPHLN1p.E370G
Missense
SNP
0.485
2--
PPIF-
-
-
-
3Gain-
PPIL1p.R72*
Nonsense
SNP
0.460
2--
PPLp.R419Q
Missense
SNP
0.548
2--
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.444
2--
PPP1R3C-
-
-
-
3Gain-
PPP2R1Ap.T524M
Missense
SNP
0.484
2--
PPP2R2D-
-
-
-
3Gain-
PPP3CB-
-
-
-
3Gain-
PPP4R1-
-
-
-
3Gain-
PPRC1-
-
-
-
3Gain-
PQLC1-
-
-
-
3Gain-
PRAP1-
-
-
-
3Gain-
PRDM2p.Y554C
Missense
SNP
0.160
2--
PRDX3-
-
-
-
3Gain-
PRELID3A-
-
-
-
3Gain-
PRELPp.N334Qfs*8
Frame_Shift_Ins
INS
0.357
2--
PRF1-
-
-
-
3Gain-
PRG4p.T367I
Missense
SNP
0.475
2--
PRICKLE3p.Q533R
Missense
SNP
0.564
NDND-
PRKCDBPp.G182R
Missense
SNP
0.492
NDND-
PRKCIp.R192W
Missense
SNP
0.375
2--
PRKCQ-
-
-
-
3Gain-
PRKG1-
-
-
-
3Gain-
PRLHR-
-
-
-
3Gain-
PRMT2p.A23V
Missense
SNP
0.434
2--
PROM2p.E728Vfs*17
Frame_Shift_Del
DEL
0.409
2--
PROSCp.Q71H
Missense
SNP
0.504
NDND-
PROSER2-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF40Bp.P40L
p.R491*
Missense
Nonsense
SNP
SNP
0.435
0.481
2--
PRPF8p.R49W
Missense
SNP
0.556
2--
PRR12p.F1281L
Missense
SNP
0.509
2--
PRR14Lp.F1767del
In_Frame_Del
DEL
0.461
2--
PRR26-
-
-
-
3Gain-
PRR35p.A246Gfs*88
Frame_Shift_Ins
INS
0.267
2--
PRRT2p.R217Pfs*8
Frame_Shift_Ins
INS
0.212
2--
PRSS33p.Q70Sfs*4
Frame_Shift_Del
DEL
0.109
2--
PRTFDC1-
-
-
-
3Gain-
PRXL2A-
-
-
-
3Gain-
PSAP-
-
-
-
3Gain-
PSD-
-
-
-
3Gain-
PSEN1p.S178Hfs*24
Frame_Shift_Del
DEL
0.419
2--
PSG2p.A263V
Missense
SNP
0.490
2--
PSMA8-
-
-
-
3Gain-
PSMC5p.E396G
Missense
SNP
0.505
2--
PSMG2-
-
-
-
3Gain-
PSTK-
-
-
-
3Gain-
PSTPIP2-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTEN-
-
-
-
3Gain-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTK2Bp.T603M
Missense
SNP
0.519
2--
PTOV1p.*417Sfs*14
Frame_Shift_Del
DEL
0.367
2--
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPN5p.P470Hfs*56
Frame_Shift_Del
DEL
0.474
2--
PTPRCAPp.V145M
Missense
SNP
0.487
2--
PTPRDp.V1848I
p.R401W
Missense
Missense
SNP
SNP
0.542
0.559
2--
PTPRE-
-
-
-
3Gain-
PTPRKp.Y1057Tfs*61
Frame_Shift_Del
DEL
0.458
2--
PTPRMp.R1375C
Missense
SNP
0.086
3Gain-
PTPRTp.P372L
Missense
SNP
0.500
2--
PUM1p.R922Q
Missense
SNP
0.472
2--
PWWP2B-
-
-
-
3Gain-
PYROXD2-
-
-
-
3Gain-
QKIp.A273V
Missense
SNP
0.446
2--
QSER1p.N1697Mfs*4
Frame_Shift_Del
DEL
0.508
2--
R3HCC1L-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
3Gain-
RAB11FIP4p.T257M
Missense
SNP
0.498
2--
RAB12-
-
-
-
3Gain-
RAB18p.P4S
Missense
SNP
0.250
3Gain-
RAB27B-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB40Cp.K261N
Missense
SNP
0.558
2--
RAB4Bp.R129W
Missense
SNP
0.506
2--
RADILp.A743V
p.V165M
Missense
Missense
SNP
SNP
0.505
0.440
2--
RAI2p.V474M
Missense
SNP
0.466
NDND-
RALBP1-
-
-
-
3Gain-
RALGAPBp.F971Sfs*53
Frame_Shift_Del
DEL
0.390
2--
RALGDSp.S675Afs*145
Frame_Shift_Del
DEL
0.573
2--
RANBP17p.N641Tfs*35
Frame_Shift_Del
DEL
0.467
2--
RANBP3p.T292M
Missense
SNP
0.544
2--
RANGAP1p.G21Dfs*3
Frame_Shift_Del
DEL
0.375
2--
RAPGEF4p.E389Kfs*10
Frame_Shift_Del
DEL
0.541
2--
RASAL3p.R39H
Missense
SNP
0.455
2--
RASGEF1A-
-
-
-
3Gain-
RASGRP3p.R549Q
Missense
SNP
0.548
2--
RASL11Bp.R109C
Missense
SNP
0.531
2--
RASSF4-
-
-
-
3Gain-
RASSF9p.R166Q
Missense
SNP
0.507
2--
RAX-
-
-
-
3Gain-
RB1CC1p.K964Sfs*13
Frame_Shift_Del
DEL
0.056
2--
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBM14p.F191Lfs*40
Frame_Shift_Del
DEL
0.481
2--
RBM17-
-
-
-
3Gain-
RBM20p.R1057Q
Missense
SNP
0.689
3Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.567
2--
RBM43p.I136Sfs*4
Frame_Shift_Del
DEL
0.454
2--
RBM46p.R266W
Missense
SNP
0.423
2--
RBM47p.G112S
Missense
SNP
0.487
2--
RBM48p.P217H
Missense
SNP
0.500
2--
RBM4Bp.P154Lfs*24
Frame_Shift_Del
DEL
0.510
2--
RBP3-
-
-
-
3Gain-
RBP4-
-
-
-
3Gain-
RCAN3p.A151S
Missense
SNP
0.543
2--
RCC1p.R33H
Missense
SNP
0.456
2--
RDH10.
Missense
DEL
0.440
2--
RECQL4p.A207Pfs*6
Frame_Shift_Del
DEL
0.481
2--
REEP3-
-
-
-
3Gain-
RELAp.H487Pfs*4
Frame_Shift_Ins
INS
0.309
2--
RELCH-
-
-
-
3Gain-
REREp.P940L
Missense
SNP
0.453
2--
RET-
-
-
-
3Gain-
RETSATp.A586T
Missense
SNP
0.316
2--
RGR-
-
-
-
3Gain-
RGS10p.G110R
Missense
SNP
0.322
3Gain-
RGS12p.P1357L
Missense
SNP
0.508
2--
RHOBTB1-
-
-
-
3Gain-
RHOXF1p.D174Tfs*22
Frame_Shift_Del
DEL
0.409
NDND-
RINT1p.P247Lfs*8
Frame_Shift_Del
DEL
0.438
2--
RIOK3-
-
-
-
3Gain-
RIPK4p.A147T
Missense
SNP
0.508
2--
RIT2-
-
-
-
3Gain-
RLFp.R721*
Nonsense
SNP
0.551
2--
RMC1-
-
-
-
3Gain-
RNF113Bp.G104V
Missense
SNP
0.514
2--
RNF121p.R194W
Missense
SNP
0.427
2--
RNF125-
-
-
-
3Gain-
RNF128p.R6M
Missense
SNP
0.292
NDND-
RNF138-
-
-
-
3Gain-
RNF145p.K26E
Missense
SNP
0.193
2--
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNLS-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
RNU5B-1-
-
-
-
NDNDAC005324.4--RNU5B-1
ROBO2p.K720Rfs*3
p.L601P
Frame_Shift_Del
Missense
DEL
SNP
0.455
0.482
2--
ROCK1-
-
-
-
3Gain-
ROS1p.V2276A
p.G1915R
p.T1670S
Missense
Missense
Missense
SNP
SNP
SNP
0.421
0.463
0.454
2--
RP11-310K10.1p.A353T
Missense
SNP
0.434
NDND-
RPEL1-
-
-
-
3Gain-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.469
2--
RPL3Lp.A75V
Missense
SNP
0.487
2--
RPL7Ap.K11del
In_Frame_Del
DEL
0.529
2--
RPP30-
-
-
-
3Gain-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
3Gain-
RPS24-
-
-
-
3Gain-
RPSA-
-
-
-
2-RPSA--TUBA1A
RRP12-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTCAp.T334M
Missense
SNP
0.535
2--
RTF1p.R333*
Nonsense
SNP
0.486
2--
RTKN2-
-
-
-
3Gain-
RTTN-
-
-
-
3Gain-
RUFY2-
-
-
-
3Gain-
SACSp.K1717Nfs*8
Frame_Shift_Del
DEL
0.439
2--
SALL3p.T658M
Missense
SNP
0.641
3Gain-
SAMD8-
-
-
-
3Gain-
SAR1A-
-
-
-
3Gain-
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.422
2--
SCART1-
-
-
-
3Gain-
SCD-
-
-
-
3Gain-
SCN10Ap.P633H
Missense
SNP
0.526
2--
SCN4Ap.W1002*
Nonsense
SNP
0.452
2--
SCN8Ap.W942C
Missense
SNP
0.652
2--
SCRIBp.F1211L
Missense
SNP
0.505
2--
SCX-
-
-
-
1Loss-
SDK1p.R140C
Missense
SNP
0.268
2--
SEC11C-
-
-
-
3Gain-
SEC14L5p.A349V
Missense
SNP
0.513
2--
SEC16Bp.V643M
Missense
SNP
0.544
2--
SEC23IP-
-
-
-
3Gain-
SEC24C-
-
-
-
3Gain-
SEC31B-
-
-
-
3Gain-
SEC61A2-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SELPp.V501I
Missense
SNP
0.417
2--
SEMA4G-
-
-
-
3Gain-
SEMA5Bp.P325L
Missense
SNP
0.667
2--
SEMG1p.A241V
Missense
SNP
0.430
2--
SENP6p.R1072*
Nonsense
SNP
0.521
2--
SENP7p.K545Nfs*11
Frame_Shift_Del
DEL
0.479
2--
SEPHS1-
-
-
-
3Gain-
SERAC1p.V8I
Missense
SNP
0.463
2--
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINE1p.A97T
Missense
SNP
0.354
2--
SESTD1p.T534M
Missense
SNP
0.545
2--
SETBP1-
-
-
-
3Gain-
SETD1Bp.H8Tfs*27
p.S291N
Frame_Shift_Del
Missense
DEL
SNP
0.585
0.478
2--
SETD5p.S1286Lfs*37
Frame_Shift_Ins
INS
0.316
2--
SEZ6L2p.T77M
Missense
SNP
0.459
2--
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
3Gain-
SFRP5-
-
-
-
3Gain-
SFTPA1-
-
-
-
3Gain-
SFTPA2-
-
-
-
3Gain-
SFTPD-
-
-
-
3Gain-
SFXN2p.D75G
Missense
SNP
0.200
3Gain-
SFXN3-
-
-
-
3Gain-
SFXN4-
-
-
-
3Gain-
SGMS1-
-
-
-
3Gain-
SGO1p.R522Efs*39
p.M325Cfs*28
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.565
0.443
2--
SGPL1-
-
-
-
3Gain-
SH2D4B-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
3Gain-
SHC2p.P407Rfs*37
Frame_Shift_Del
DEL
0.380
2--
SHISA7p.G359Afs*178
Frame_Shift_Del
DEL
0.362
2--
SHLD2-
-
-
-
3Gain-
SHOC2-
-
-
-
3Gain-
SHROOM2p.R753Q
Missense
SNP
0.531
NDND-
SHROOM3p.A1622T
Missense
SNP
0.430
2--
SHROOM4p.K1314Rfs*23
p.R242C
Frame_Shift_Del
Missense
DEL
SNP
0.510
0.490
NDND-
SHTN1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
3Gain-
SIPA1L3p.A460T
Missense
SNP
0.554
2--
SIRT1-
-
-
-
3Gain-
SIX5p.A625Pfs*31
Frame_Shift_Del
DEL
0.426
2--
SKA1-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKOR2-
-
-
-
3Gain-
SLC11A1p.A88V
Missense
SNP
0.072
2--
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC16A12-
-
-
-
3Gain-
SLC16A2p.G147R
Missense
SNP
0.640
NDND-
SLC16A9-
-
-
-
3Gain-
SLC18A2-
-
-
-
3Gain-
SLC18A3-
-
-
-
3Gain-
SLC19A3p.R277H
Missense
SNP
0.454
2--
SLC1A7p.R11Gfs*27
p.T406I
Frame_Shift_Del
Missense
DEL
SNP
0.519
0.522
2--
SLC22A16p.T87M
Missense
SNP
0.503
2--
SLC22A18p.T93M
Missense
SNP
0.432
2--
SLC22A3p.R407H
Missense
SNP
0.507
2--
SLC22A6p.R192W
Missense
SNP
0.358
2--
SLC25A16-
-
-
-
3Gain-
SLC25A24p.G192R
Missense
SNP
0.506
2--
SLC25A28-
-
-
-
3Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A1p.R365H
Missense
SNP
0.449
2--
SLC29A3-
-
-
-
3Gain-
SLC30A8p.S183R
Missense
SNP
0.496
2--
SLC35B2p.A411V
Missense
SNP
0.094
2--
SLC35G1-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13p.A279T
Missense
SNP
0.543
2--
SLC39A6-
-
-
-
3Gain-
SLC44A4p.V238Wfs*5
Frame_Shift_Del
DEL
0.386
2--
SLC45A1p.P494L
Missense
SNP
0.453
2--
SLC5A6p.R142*
Nonsense
SNP
0.492
2--
SLC7A10p.T158Pfs*12
Frame_Shift_Del
DEL
0.486
2--
SLC9C1p.F10Sfs*11
Frame_Shift_Del
DEL
0.342
2--
SLCO1C1p.A588V
Missense
SNP
0.475
2--
SLCO4A1p.T297M
Missense
SNP
0.560
2--
SLF1p.R126K
Missense
SNP
0.473
2--
SLF2-
-
-
-
3Gain-
SLIT1p.R1481H
Missense
SNP
0.324
3Gain-
SLITRK5p.N762Tfs*12
Frame_Shift_Del
DEL
0.448
2--
SLK-
-
-
-
3Gain-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7-
-
-
-
3Gain-
SMARCA1p.K57del
In_Frame_Del
DEL
0.402
NDND-
SMARCA4p.G271Rfs*16
p.G911D
p.R1157Q
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.320
0.500
0.487
2--
SMARCD1p.R503*
Nonsense
SNP
0.523
2--
SMC2p.K368E
Missense
SNP
0.464
2--
SMC3-
-
-
-
3Gain-
SMCHD1-
-
-
-
3Gain-
SMIM21-
-
-
-
3Gain-
SMNDC1-
-
-
-
3Gain-
SMPD4-
-
-
-
1Loss-
SMPXp.R34Qfs*8
Frame_Shift_Ins
INS
0.312
NDND-
SMYD4p.S737G
Missense
SNP
0.515
2--
SNCG-
-
-
-
3Gain-
SND1p.R539H
Missense
SNP
0.504
2--
SNED1p.P701Rfs*4
Frame_Shift_Del
DEL
0.482
2--
SNHG1-
-
-
-
NDNDSNHG1--ATP5F1E
SNRPBp.R25W
Missense
SNP
0.538
2--
SNRPD1-
-
-
-
3Gain-
SNW1p.Q15H
Missense
SNP
0.667
2--
SNX13p.R854I
Missense
SNP
0.474
2--
SOCS6-
-
-
-
3Gain-
SORBS1-
-
-
-
3Gain-
SORCS1-
-
-
-
3Gain-
SORCS3-
-
-
-
3Gain-
SORL1p.M1581Cfs*34
Frame_Shift_Del
DEL
0.426
2--
SOS1p.K1030Nfs*6
Frame_Shift_Del
DEL
0.342
2--
SP110p.F623Lfs*28
Frame_Shift_Del
DEL
0.258
2--
SPAG5p.R259C
Missense
SNP
0.450
2--
SPAG6-
-
-
-
3Gain-
SPATA13p.R896H
Missense
SNP
0.523
2--
SPATA22p.N194Tfs*30
Frame_Shift_Del
DEL
0.410
2--
SPATA31A1p.S1009Y
Missense
SNP
0.450
2--
SPENp.V1907I
Missense
SNP
0.448
2--
SPIRE1-
-
-
-
3Gain-
SPNS2p.G79Afs*91
Frame_Shift_Del
DEL
0.323
2--
SPOCK2-
-
-
-
3Gain-
SPON1p.R758C
Missense
SNP
0.441
2--
SPON2p.T209M
Missense
SNP
0.497
2--
SPRN-
-
-
-
3Gain-
SPTAN1p.R474W
Missense
SNP
0.560
2--
SPTBN4p.C355Y
Missense
SNP
0.376
2--
SREBF1p.A1026T
Missense
SNP
0.636
2--
SRGAP3p.R585Q
Missense
SNP
0.481
2--
SRGN-
-
-
-
3Gain-
SRPRAp.K170Rfs*33
Frame_Shift_Del
DEL
0.540
2--
SS18-
-
-
-
3Gain-
SSRP1p.R463W
Missense
SNP
0.547
2--
SSTR3p.R161Afs*28
Frame_Shift_Del
DEL
0.494
2--
SSTR4p.G11Afs*61
p.R252C
Frame_Shift_Del
Missense
DEL
SNP
0.511
0.521
2--
SSU72p.D50N
Missense
SNP
0.547
2--
SSX5p.R181H
Missense
SNP
0.512
NDND-
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
ST8SIA6-
-
-
-
3Gain-
STAB1p.E1712Rfs*8
Frame_Shift_Ins
INS
0.304
2--
STAG2p.R1195C
Missense
SNP
0.498
NDND-
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAT5Bp.R430H
Missense
SNP
0.574
2--
STK32C-
-
-
-
3Gain-
STK38p.F382Lfs*70
Frame_Shift_Del
DEL
0.436
2--
STMN4p.R205Q
Missense
SNP
0.463
2--
STN1-
-
-
-
3Gain-
STOX1-
-
-
-
3Gain-
STRBPp.R289*
Nonsense
SNP
0.500
2--
SUFUp.R224Q
Missense
SNP
0.379
3Gain-
SULT1C3p.E76K
Missense
SNP
0.470
2--
SULT6B1p.K48Sfs*21
Frame_Shift_Del
DEL
0.409
2--
SUPT20Hp.R506Q
Missense
SNP
0.052
2--
SUPT5Hp.Y564H
p.R700Q
Missense
Missense
SNP
SNP
0.431
0.524
2--
SUPV3L1-
-
-
-
3Gain-
SURF2p.R28M
Missense
SNP
0.482
2--
SURF6p.R216H
Missense
SNP
0.500
2--
SUV39H2-
-
-
-
3Gain-
SVIL-
-
-
-
3Gain-
SVOPLp.F95Lfs*36
Frame_Shift_Del
DEL
0.521
2--
SYCE1-
-
-
-
3Gain-
SYNPOp.S750N
Missense
SNP
0.219
2--
SYNPO2L-
-
-
-
3Gain-
SYT15-
-
-
-
3Gain-
SYT4-
-
-
-
3Gain-
SYTL4p.P75L
Missense
SNP
0.451
NDND-
TACC1p.K261Qfs*9
Frame_Shift_Ins
INS
0.335
2--
TACC2-
-
-
-
3Gain-
TACR2-
-
-
-
3Gain-
TAF1Bp.S471Afs*28
Frame_Shift_Del
DEL
0.386
2--
TAF3-
-
-
-
3Gain-
TAF4p.X588_splice
Splice_Site
SNP
0.460
2--
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
3Gain-
TAOK3p.A784V
Missense
SNP
0.475
2--
TAS1R2p.R226H
Missense
SNP
0.490
2--
TBATA-
-
-
-
3Gain-
TBC1D10Cp.A321Rfs*100
Frame_Shift_Del
DEL
0.095
2--
TBC1D12-
-
-
-
3Gain-
TBC1D23p.K649Nfs*18
Frame_Shift_Del
DEL
0.370
2--
TCEAL4p.A16V
Missense
SNP
0.377
NDND-
TCERG1L-
-
-
-
3Gain-
TCF3p.R609W
Missense
SNP
0.497
2--
TCF4-
-
-
-
3Gain-
TCF7L2p.K466E
Missense
SNP
0.285
3Gain-
TCP11L2p.L308P
Missense
SNP
0.523
2--
TCTN3-
-
-
-
3Gain-
TDRD1-
-
-
-
3Gain-
TEAD2p.H299Mfs*12
Frame_Shift_Del
DEL
0.955
2--
TECTB-
-
-
-
3Gain-
TET1-
-
-
-
3Gain-
TEX264p.R203W
Missense
SNP
0.531
2--
TEX36-
-
-
-
3Gain-
TFAMp.E148Sfs*2
Frame_Shift_Del
DEL
0.435
3Gain-
TFCP2p.R257Q
Missense
SNP
0.518
2--
TGIF1-
-
-
-
3Gain-
TGM1p.R46C
Missense
SNP
0.535
2--
THAP8p.L116Cfs*15
Frame_Shift_Del
DEL
0.482
2--
THNSL1-
-
-
-
3Gain-
THOC1-
-
-
-
3Gain-
THSD7Bp.G987C
Missense
SNP
0.405
2--
THYN1p.N194Ifs*15
Frame_Shift_Del
DEL
0.091
2--
TIAL1-
-
-
-
3Gain-
TICRRp.R1086*
Nonsense
SNP
0.388
2--
TIE1p.R603H
Missense
SNP
0.457
2--
TIFABp.E143D
Missense
SNP
0.500
2--
TIMM21-
-
-
-
3Gain-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
3Gain-
TJAP1p.S361N
Missense
SNP
0.525
2--
TKTL2p.G263R
p.R24Q
Missense
Missense
SNP
SNP
0.506
0.462
2--
TLE2p.S250Qfs*30
Frame_Shift_Ins
INS
0.335
2--
TLL2-
-
-
-
3Gain-
TLN2p.V1160M
p.E2318K
Missense
Missense
SNP
SNP
0.465
0.459
2--
TLX1-
-
-
-
3Gain-
TM6SF2p.A201T
p.A107V
Missense
Missense
SNP
SNP
0.538
0.474
2--
TM9SF3-
-
-
-
3Gain-
TMED3p.V153I
Missense
SNP
0.495
2--
TMEM131p.D1577G
Missense
SNP
0.539
2--
TMEM155p.S121Ifs*44
Frame_Shift_Del
DEL
0.430
2--
TMEM168p.R258C
Missense
SNP
0.519
2--
TMEM169p.T164M
Missense
SNP
0.419
2--
TMEM181p.F186L
Missense
SNP
0.491
2--
TMEM200Cp.P21Qfs*22
Frame_Shift_Del
DEL
0.269
3Gain-
TMEM231p.S275N
Missense
SNP
0.500
2--
TMEM236-
-
-
-
3Gain-
TMEM239p.G136S
Missense
SNP
0.518
2--
TMEM241-
-
-
-
3Gain-
TMEM254-
-
-
-
3Gain-
TMEM26-
-
-
-
3Gain-
TMEM273-
-
-
-
3Gain-
TMEM50Ap.R79Q
Missense
SNP
0.463
2--
TMEM72-
-
-
-
3Gain-
TMEM92p.Y120Tfs*4
Frame_Shift_Del
DEL
0.380
2--
TMOD3p.I97Yfs*23
Frame_Shift_Del
DEL
0.443
2--
TMTC2p.Q829Tfs*7
Frame_Shift_Ins
INS
0.295
2--
TMX3-
-
-
-
3Gain-
TNFRSF11Ap.P432L
Missense
SNP
0.665
3Gain-
TNKS2-
-
-
-
3Gain-
TNRC18p.A832P
Missense
SNP
0.449
2--
TNRC6Cp.N615Mfs*45
Frame_Shift_Del
DEL
0.508
2--
TNS1p.R1198Q
Missense
SNP
0.518
2--
TOP2Ap.T1205Hfs*19
Frame_Shift_Del
DEL
0.515
2--
TPCN2p.A615T
Missense
SNP
0.431
2--
TPGS2-
-
-
-
3Gain-
TRAF2p.R486W
Missense
SNP
0.438
2--
TRAF3IP2p.P556Lfs*38
Frame_Shift_Del
DEL
0.484
2--
TRAF7p.S17Afs*111
Frame_Shift_Del
DEL
0.502
2--
TRAPPC8-
-
-
-
3Gain-
TRDMT1-
-
-
-
3Gain-
TRHRp.A78T
Missense
SNP
0.469
2--
TRIM28p.R470W
Missense
SNP
0.550
2--
TRIM3p.S74L
Missense
SNP
0.550
2--
TRIM36p.R44H
Missense
SNP
0.505
2--
TRIM8-
-
-
-
3Gain-
TRIOp.R558C
p.L1071P
Missense
Missense
SNP
SNP
0.503
0.423
2--
TRIOBPp.R2039W
Missense
SNP
0.458
2--
TRIP12p.X378_splice
Splice_Site
SNP
0.586
2--
TRMT5p.R432W
Missense
SNP
0.518
2--
TRPM2p.A1278T
p.R1336C
Missense
Missense
SNP
SNP
0.505
0.443
2--
TRPM3p.T944M
Missense
SNP
0.431
2--
TRUB1-
-
-
-
3Gain-
TSHZ1-
-
-
-
3Gain-
TSPAN14-
-
-
-
3Gain-
TSPAN15-
-
-
-
3Gain-
TSPAN5p.A192T
Missense
SNP
0.549
2--
TSPEARp.R67Afs*3
Frame_Shift_Del
DEL
0.431
2--
TSR3p.A294Lfs*28
Frame_Shift_Del
DEL
0.419
2--
TTC14p.R459C
Missense
SNP
0.483
2--
TTC16p.R86H
Missense
SNP
0.609
2--
TTC30Ap.M601Dfs*5
Frame_Shift_Del
DEL
0.462
2--
TTC37p.Y827*
Nonsense
SNP
0.561
2--
TTC39Cp.A444V
Missense
SNP
0.614
3Gain-
TTC6p.L540Sfs*19
p.R923H
Frame_Shift_Del
Missense
DEL
SNP
0.490
0.475
2--
TTC7Ap.T733M
Missense
SNP
0.408
2--
TTNp.P13097Lfs*12
p.K9807Rfs*5
p.R13727H
p.G5061S
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
DEL
DEL
SNP
SNP
0.395
0.226
0.452
0.472
2--
TTR-
-
-
-
3Gain-
TUBA1A-
-
-
-
2-RPSA--TUBA1A
TUBA3Ep.F267S
Missense
SNP
0.452
2--
TUBAL3-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
3Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP6p.P1371H
p.R793C
Missense
Missense
SNP
SNP
0.474
0.597
2--
TVP23Ap.F140Lfs*7
Frame_Shift_Del
DEL
0.474
2--
TWNK-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4Ap.G128S
Missense
SNP
0.316
3Gain-
TYMS-
-
-
-
3Gain-
TYSND1-
-
-
-
3Gain-
TYW1p.W154*
Nonsense
SNP
0.570
2--
UBA2p.A380T
Missense
SNP
0.554
2--
UBE2D1-
-
-
-
3Gain-
UBR4p.R142*
Nonsense
SNP
0.509
2--
UBTD1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UGT1A8p.P264T
Missense
SNP
0.480
2--
UNC13Ap.R1566W
p.R39W
Missense
Missense
SNP
SNP
0.535
0.487
2--
UNC45Ap.A18Pfs*85
Frame_Shift_Del
DEL
0.475
2--
UNC5B-
-
-
-
3Gain-
UNC5Dp.D379N
Missense
SNP
0.533
2--
UNKp.R123H
Missense
SNP
0.458
2--
UPF2-
-
-
-
3Gain-
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.467
2--
UROS-
-
-
-
3Gain-
USH2Ap.R310Q
Missense
SNP
0.500
2--
USP14-
-
-
-
3Gain-
USP2p.X413_splice
Splice_Site
INS
0.296
2--
USP40p.Q1160Tfs*20
Frame_Shift_Ins
INS
0.253
2--
USP54-
-
-
-
3Gain-
USP6NL-
-
-
-
3Gain-
USP9Xp.E2102K
Missense
SNP
0.429
NDND-
UTF1-
-
-
-
3Gain-
UTP15p.L425*
Frame_Shift_Del
DEL
0.436
2--
UTRNp.T287A
Missense
SNP
0.500
2--
VAPA-
-
-
-
3Gain-
VAX1-
-
-
-
3Gain-
VCANp.W1619*
Nonsense
SNP
0.462
2--
VCLp.R230C
Missense
SNP
0.309
3Gain-
VCPp.N616Cfs*11
Frame_Shift_Del
DEL
0.469
2--
VDAC2-
-
-
-
3Gain-
VENTX-
-
-
-
3Gain-
VEZF1p.V470I
Missense
SNP
0.508
2--
VIM-
-
-
-
3Gain-
VPS13Ap.I1709Nfs*6
p.R161H
Frame_Shift_Ins
Missense
INS
SNP
0.289
0.551
2--
VPS16p.R321H
Missense
SNP
0.494
2--
VPS18p.A889V
Missense
SNP
0.526
2--
VPS26A-
-
-
-
3Gain-
VPS35p.S179Y
Missense
SNP
0.508
2--
VPS4B-
-
-
-
3Gain-
VPS51p.V609M
Missense
SNP
0.404
2--
VPS8p.Q877H
Missense
SNP
0.504
2--
VSIG10Lp.V263Ffs*72
Frame_Shift_Del
DEL
0.409
2--
VSIR-
-
-
-
3Gain-
VSTM4-
-
-
-
3Gain-
VSX2p.A52V
Missense
SNP
0.566
2--
VTI1A-
-
-
-
3Gain-
VWA2-
-
-
-
3Gain-
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
3Gain-
WASHC2A-
-
-
-
3Gain-
WASHC2C-
-
-
-
3Gain-
WBP11p.G521Wfs*28
Frame_Shift_Ins
INS
0.303
2--
WBP1L-
-
-
-
3Gain-
WDFY3p.L1060Cfs*41
Frame_Shift_Del
DEL
0.869
2--
WDFY4-
-
-
-
3Gain-
WDR11-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR47p.V693I
Missense
SNP
0.518
2--
WDR7-
-
-
-
3Gain-
WDR78p.K30Rfs*28
Frame_Shift_Del
DEL
0.455
2--
WDR87p.K2759Rfs*57
Frame_Shift_Del
DEL
0.470
2--
WDTC1p.E290Tfs*6
p.V621M
Frame_Shift_Del
Missense
DEL
SNP
0.407
0.536
2--
WFDC3p.R66*
Nonsense
SNP
0.486
2--
WISP3p.K226Nfs*24
Frame_Shift_Del
DEL
0.475
2--
WIZp.R234W
Missense
SNP
0.534
2--
WNK1p.P743T
Missense
SNP
0.480
2--
WNK3p.A403S
Missense
SNP
0.521
NDND-
WNT4p.K107Q
Missense
SNP
0.496
2--
WNT6p.D289N
Missense
SNP
0.566
2--
WNT8B-
-
-
-
3Gain-
WSCD1p.R76Q
Missense
SNP
0.434
2--
WWC2p.M206Cfs*17
p.R380Q
Frame_Shift_Del
Missense
DEL
SNP
0.377
0.473
2--
XIAPp.H302Y
Missense
SNP
0.554
NDND-
XIRP2p.D1030N
p.N1589T
Missense
Missense
SNP
SNP
0.478
0.465
2--
XPNPEP1-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YLPM1p.G1063D
Missense
SNP
0.525
2--
YME1L1-
-
-
-
3Gain-
ZADH2-
-
-
-
3Gain-
ZBTB1p.K524Sfs*25
Frame_Shift_Del
DEL
0.481
2--
ZBTB14p.R30H
Missense
SNP
0.281
3Gain-
ZBTB38p.R917C
Missense
SNP
0.451
2--
ZBTB7Ap.A559V
Missense
SNP
0.553
2--
ZBTB7C-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZCCHC24-
-
-
-
3Gain-
ZCRB1p.K140Rfs*13
Frame_Shift_Del
DEL
0.457
2--
ZDHHC16-
-
-
-
3Gain-
ZDHHC18p.P367L
Missense
SNP
0.490
2--
ZDHHC5p.L657S
Missense
SNP
0.488
2--
ZDHHC6-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFHX3p.G17S
Missense
SNP
0.525
2--
ZFHX4p.L411Cfs*4
p.P2057Hfs*26
p.A171T
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.497
0.182
0.572
2--
ZFP36L2p.A229Rfs*245
p.G144Afs*43
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.307
0.425
2--
ZFXp.R536H
Missense
SNP
0.429
NDND-
ZFYVE27-
-
-
-
3Gain-
ZKSCAN2p.A166V
Missense
SNP
0.436
2--
ZMIZ1-
-
-
-
3Gain-
ZMYM3p.L85Afs*4
Frame_Shift_Ins
INS
0.337
NDND-
ZMYM6p.N724Mfs*15
Frame_Shift_Del
DEL
0.369
2--
ZMYND11-
-
-
-
3Gain-
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.365
2--
ZNF134p.E208K
Missense
SNP
0.534
2--
ZNF157p.K53N
Missense
SNP
0.581
NDND-
ZNF205p.A493V
Missense
SNP
0.528
2--
ZNF215p.R396*
Nonsense
SNP
0.538
2--
ZNF22-
-
-
-
3Gain-
ZNF236-
-
-
-
3Gain-
ZNF239-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF3p.T99Rfs*4
Frame_Shift_Del
DEL
0.450
2--
ZNF32-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
3Gain-
ZNF365-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF384p.P517S
Missense
SNP
0.505
2--
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF407-
-
-
-
3Gain-
ZNF438-
-
-
-
3Gain-
ZNF441p.P418S
Missense
SNP
0.407
2--
ZNF460p.P447L
Missense
SNP
0.447
2--
ZNF479p.K127Nfs*74
Frame_Shift_Del
DEL
0.317
2--
ZNF485-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF503-
-
-
-
3Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF516-
-
-
-
3Gain-
ZNF518A-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF525p.A177T
Missense
SNP
0.478
2--
ZNF532p.R421Gfs*9
Frame_Shift_Del
DEL
0.611
3Gain-
ZNF552p.S172N
Missense
SNP
0.449
2--
ZNF567p.H253Tfs*5
Frame_Shift_Ins
INS
0.315
2--
ZNF615p.G361R
Missense
SNP
0.525
2--
ZNF616p.T209Rfs*8
Frame_Shift_Del
DEL
0.477
2--
ZNF687p.E930del
In_Frame_Del
DEL
0.348
2--
ZNF703p.A472T
Missense
SNP
0.454
2--
ZNF71p.R107H
Missense
SNP
0.438
2--
ZNF710p.R386C
Missense
SNP
0.533
2--
ZNF717p.K511N
Missense
SNP
0.252
2--
ZNF74p.A447T
Missense
SNP
0.466
2--
ZNF777p.P504Rfs*5
p.R566C
Frame_Shift_Del
Missense
DEL
SNP
0.407
0.575
2--
ZNF786p.R377C
Missense
SNP
0.513
2--
ZNF792p.T222I
Missense
SNP
0.435
2--
ZNF813p.S108N
Missense
SNP
0.453
2--
ZNF814p.K350Nfs*121
Frame_Shift_Del
DEL
0.205
2--
ZNF831p.G1157E
Missense
SNP
0.535
2--
ZNF865p.A462T
p.S672L
Missense
Missense
SNP
SNP
0.531
0.484
2--
ZNF880p.A332T
Missense
SNP
0.432
2--
ZRANB1-
-
-
-
3Gain-
ZSCAN30-
-
-
-
3Gain-
ZSWIM4p.R679Q
Missense
SNP
0.488
2--
ZSWIM8-
-
-
-
3Gain-
ZW10p.R762C
Missense
SNP
0.439
2--
ZWINT-
-
-
-
3Gain-