PDMR-558786~286-R~FI8D07-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3Gain-
A2Mp.A176T
Missense
SNP
0.388
2--
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.611
2--
ABCB6p.G318Vfs*9
Frame_Shift_Del
DEL
0.377
2--
ABCC10p.Q369*
Nonsense
SNP
0.437
2--
ABCC12p.A191T
Missense
SNP
0.500
2--
ABCC2-
-
-
-
3Gain-
ABCF3p.R269W
Missense
SNP
0.544
2--
ABCG8p.T401M
Missense
SNP
0.466
2--
ABHD3-
-
-
-
3Gain-
ABHD6p.L88I
Missense
SNP
0.436
2--
ABI1-
-
-
-
3Gain-
ABLIM1-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
3Gain-
AC007998.2-
-
-
-
3Gain-
AC008802.1-
-
-
-
NDNDAC008802.1--AL353691.2
AC010615.4-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC022400.6-
-
-
-
3Gain-
AC067752.1-
-
-
-
3Gain-
AC068896.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC092329.3-
-
-
-
3Gain-
AC104451.1-
-
-
-
NDNDAC104451.1--AC233699.1
AC233699.1-
-
-
-
NDNDAC104451.1--AC233699.1
ACAA2-
-
-
-
3Gain-
ACAD11p.R127Q
Missense
SNP
0.375
2--
ACADSB-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACSL5-
-
-
-
3Gain-
ACSM6-
-
-
-
3Gain-
ACTA2-
-
-
-
3Gain-
ACTBp.P332S
Missense
SNP
0.528
2--
ACTR1A-
-
-
-
3Gain-
ACTR2p.R354C
Missense
SNP
0.515
2--
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.496
2--
ADAM12-
-
-
-
3Gain-
ADAM21p.V339M
Missense
SNP
0.465
2--
ADAM8-
-
-
-
3Gain-
ADAMDEC1p.N342Efs*2
Frame_Shift_Ins
INS
0.247
2--
ADAMTS14-
-
-
-
3Gain-
ADAMTSL2p.H950Pfs*13
Frame_Shift_Ins
INS
0.317
2--
ADARB2p.P13L
Missense
SNP
0.451
3Gain-
ADCY5p.D192_S193del
In_Frame_Del
DEL
0.345
2--
ADCYAP1p.X37_splice
Splice_Site
SNP
0.316
3Gain-
ADD2p.R134Q
Missense
SNP
0.357
2--
ADD3p.R434C
Missense
SNP
0.685
3Gain-
ADGRA1-
-
-
-
3Gain-
ADGRF5p.Y1113H
Missense
SNP
0.574
2--
ADGRL3p.V963Cfs*39
Frame_Shift_Del
DEL
0.417
2--
ADIRF-
-
-
-
3Gain-
ADK-
-
-
-
3Gain-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
3Gain-
ADRA2A-
-
-
-
3Gain-
ADRB1-
-
-
-
3Gain-
AEBP1p.Q255Afs*21
Frame_Shift_Ins
INS
0.317
2--
AFAP1L2-
-
-
-
3Gain-
AFG3L2-
-
-
-
3Gain-
AFMIDp.G71S
Missense
SNP
0.559
2--
AGAP2p.V630M
Missense
SNP
0.515
2--
AGAP4-
-
-
-
3Gain-
AGAP5-
-
-
-
3Gain-
AGAP6-
-
-
-
3Gain-
AGAP9-
-
-
-
3Gain-
AGLp.N1304Kfs*7
Frame_Shift_Ins
INS
0.195
2--
AGO1p.L17Cfs*99
Frame_Shift_Del
DEL
0.654
2--
AIF1p.P137H
Missense
SNP
0.596
2--
AIFM2-
-
-
-
3Gain-
AIM1p.P734L
Missense
SNP
0.480
NDND-
AKAIN1-
-
-
-
3Gain-
AKAP9p.K39Rfs*17
p.V3673A
Frame_Shift_Del
Missense
DEL
SNP
0.404
0.441
2--
AKR1B1p.A209T
Missense
SNP
0.267
2--
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3GainAKR1C2--AKR1C6P
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C6P-
-
-
-
NDNDAKR1C2--AKR1C6P
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AL117339.5-
-
-
-
3Gain-
AL133352.1-
-
-
-
3Gain-
AL133353.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--CANX
AL139099.4--EIF2B5
AL157392.5-
-
-
-
3Gain-
AL353691.2-
-
-
-
NDNDAC008802.1--AL353691.2
AL355315.1-
-
-
-
3Gain-
AL356053.1p.I188*
Frame_Shift_Del
DEL
0.750
NDND-
AL360181.3-
-
-
-
3Gain-
AL365273.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
3Gain-
ALDH18A1-
-
-
-
3Gain-
ALDH1A2p.R85C
Missense
SNP
0.538
2--
ALDH3B2p.L213M
Missense
SNP
0.467
2--
ALDOCp.R22Q
Missense
SNP
0.556
2--
ALKBH4p.C267Y
Missense
SNP
0.622
2--
ALOX15Bp.A191V
Missense
SNP
0.722
2--
ALOX5-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
ALS2CR11p.N837Ifs*9
Frame_Shift_Del
DEL
0.426
NDND-
AMER1p.G105D
Missense
SNP
0.412
NDND-
AMTp.L155I
Missense
SNP
0.583
2--
ANAPC16-
-
-
-
3Gain-
ANK2p.A1819V
Missense
SNP
0.468
2--
ANK3-
-
-
-
3Gain-
ANKFN1p.R763K
Missense
SNP
0.395
2--
ANKLE1p.S246Afs*80
Frame_Shift_Del
DEL
0.528
2--
ANKRD1-
-
-
-
3Gain-
ANKRD11p.A2265Pfs*72
p.A2275T
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.500
2--
ANKRD12-
-
-
-
3Gain-
ANKRD16-
-
-
-
3Gain-
ANKRD2-
-
-
-
3Gain-
ANKRD22-
-
-
-
3Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD27p.H464Y
Missense
SNP
0.435
2--
ANKRD29-
-
-
-
3Gain-
ANKRD30A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD31p.G512Vfs*20
Frame_Shift_Del
DEL
0.364
2--
ANKRD45p.F15S
Missense
SNP
0.557
2--
ANKRD62-
-
-
-
3Gain-
ANKS3p.R550H
Missense
SNP
0.406
2--
ANO6p.V698I
Missense
SNP
0.658
2--
ANTXR1p.R480C
Missense
SNP
0.512
2--
ANTXRL-
-
-
-
3Gain-
ANXA11-
-
-
-
3Gain-
ANXA7-
-
-
-
3Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
AOC1p.R190Gfs*18
Frame_Shift_Del
DEL
0.430
2--
AP1G1p.R8W
Missense
SNP
0.548
2--
AP1M2p.K354Qfs*30
Frame_Shift_Ins
INS
0.291
2--
AP2A2p.A376T
Missense
SNP
0.459
2--
AP3M1-
-
-
-
3Gain-
APBB1IP-
-
-
-
3Gain-
APCp.E902K
p.P1604L
Missense
Missense
SNP
SNP
0.507
0.496
2--
APCDD1-
-
-
-
3Gain-
APOBRp.G267C
Missense
SNP
0.625
2--
APOL2p.R87Q
Missense
SNP
0.391
2--
AQP2p.T125M
Missense
SNP
0.412
2--
AQP4-
-
-
-
3Gain-
ARAP2p.A469T
p.G250*
Missense
Nonsense
SNP
SNP
0.452
0.517
2--
ARGLU1p.R45H
p.A186T
Missense
Missense
SNP
SNP
0.372
0.444
2--
ARHGAP12-
-
-
-
3Gain-
ARHGAP17p.E112K
Missense
SNP
0.483
2--
ARHGAP19-
-
-
-
3Gain-
ARHGAP19-SLIT1-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP39p.V443I
Missense
SNP
0.725
2--
ARHGAP6p.G745R
p.V624M
p.R433Q
Missense
Missense
Missense
SNP
SNP
SNP
0.345
0.396
0.384
NDND-
ARHGEF1p.D382N
Missense
SNP
0.568
2--
ARHGEF10Lp.T495M
Missense
SNP
0.452
2--
ARHGEF40p.R1076Gfs*18
Frame_Shift_Del
DEL
0.623
2--
ARID1Ap.P1175Hfs*5
p.D1850Gfs*4
p.X751_splice
Frame_Shift_Del
Frame_Shift_Ins
Splice_Site
DEL
INS
SNP
0.417
0.331
0.310
2--
ARID1Bp.Q1810*
Nonsense
SNP
0.370
2--
ARID3Ap.X499_splice
Splice_Site
SNP
0.441
2--
ARID4Bp.Q1041*
Nonsense
SNP
0.350
2--
ARID5B-
-
-
-
3Gain-
ARL2p.R78Q
Missense
SNP
0.529
2--
ARL3-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC9p.G2R
Missense
SNP
0.345
2--
ARMH3-
-
-
-
3Gain-
ARMS2-
-
-
-
3Gain-
AS3MT-
-
-
-
3Gain-
ASAH2-
-
-
-
3Gain-
ASAH2B-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASCC1-
-
-
-
3Gain-
ASH1Lp.I1341N
Missense
SNP
0.468
2--
ASS1p.A106T
Missense
SNP
0.368
2--
ASTN1p.A847V
Missense
SNP
0.400
2--
ASXL3-
-
-
-
3Gain-
ATAD1-
-
-
-
3Gain-
ATAD2p.D280E
p.D275E
Missense
Missense
SNP
SNP
0.480
0.536
2--
ATE1-
-
-
-
3Gain-
ATOH7-
-
-
-
3Gain-
ATP10Ap.T1205Pfs*4
Frame_Shift_Del
DEL
0.278
2--
ATP5F1A-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5MD-
-
-
-
3Gain-
ATP6V1B1p.R331W
Missense
SNP
0.492
2--
ATP6V1Dp.R30Q
Missense
SNP
0.465
2--
ATP8A1p.R725H
Missense
SNP
0.429
2--
ATP8A2p.V506M
Missense
SNP
0.500
2--
ATP8B1-
-
-
-
3Gain-
ATP9Bp.A992V
Missense
SNP
0.359
3Gain-
ATRIPp.L345Cfs*31
Frame_Shift_Del
DEL
0.250
2--
ATRNL1-
-
-
-
3Gain-
AVILp.G118Vfs*6
p.T480M
Frame_Shift_Del
Missense
DEL
SNP
0.515
0.456
2--
AVL9p.G397A
Missense
SNP
0.534
2--
AVPI1-
-
-
-
3Gain-
B3GNT6p.G221D
Missense
SNP
0.507
2--
B4GALNT4p.R307Afs*98
p.T982M
Frame_Shift_Ins
Missense
INS
SNP
0.339
0.425
2--
B4GALT6-
-
-
-
3Gain-
BAG3-
-
-
-
3Gain-
BAHCC1p.G1603R
Missense
SNP
0.608
2--
BAIAP2L2p.V396M
Missense
SNP
0.548
2--
BAMBI-
-
-
-
3Gain-
BANPp.A232T
Missense
SNP
0.560
2--
BBIP1-
-
-
-
3Gain-
BCAR3p.N733Tfs*9
Frame_Shift_Del
DEL
0.500
2--
BCCIP-
-
-
-
3Gain-
BCHEp.N134Mfs*5
Frame_Shift_Del
DEL
0.427
2--
BCKDHAp.T211M
Missense
SNP
0.214
2--
BCL2-
-
-
-
3Gain-
BCL9Lp.A77Gfs*14
Frame_Shift_Ins
INS
0.300
2--
BCRp.R232W
Missense
SNP
0.500
2--
BEND7-
-
-
-
3Gain-
BICC1-
-
-
-
3Gain-
BIRC7p.Q54*
Nonsense
SNP
0.500
2--
BLNK-
-
-
-
3Gain-
BLOC1S2-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMPR1A-
-
-
-
3Gain-
BMS1-
-
-
-
3Gain-
BNIP3-
-
-
-
3Gain-
BOD1L1p.E2153K
Missense
SNP
0.507
2--
BOD1L2-
-
-
-
3Gain-
BORCS7-
-
-
-
3Gain-
BORCS7-ASMT-
-
-
-
3Gain-
BPIp.P13L
Missense
SNP
0.472
2--
BPIFB4p.V74Sfs*9
p.R289W
Frame_Shift_Ins
Missense
INS
SNP
0.300
0.464
2--
BRD4p.R444C
Missense
SNP
0.630
2--
BRF1p.A521T
Missense
SNP
0.500
2--
BRINP3p.W529*
Nonsense
SNP
0.480
2--
BRPF1p.Q938Sfs*5
Frame_Shift_Del
DEL
0.333
2--
BTAF1-
-
-
-
3Gain-
BTBD16-
-
-
-
3Gain-
BTRC-
-
-
-
3Gain-
BUB3-
-
-
-
3Gain-
C10orf105-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
3Gain-
C10orf53-
-
-
-
3Gain-
C10orf55-
-
-
-
3Gain-
C10orf62-
-
-
-
3Gain-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
3Gain-
C10orf82-
-
-
-
3Gain-
C10orf88-
-
-
-
3Gain-
C10orf90-
-
-
-
3Gain-
C10orf99-
-
-
-
3Gain-
C11orf54p.T309M
Missense
SNP
0.403
2--
C17orf74p.P442Rfs*25
Frame_Shift_Del
DEL
0.514
NDND-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63p.M340Cfs*6
Frame_Shift_Del
DEL
0.299
3Gain-
C18orf8p.C394Hfs*4
Frame_Shift_Del
DEL
0.589
NDND-
C1QBp.C31Y
Missense
SNP
0.625
2--
C1QL3p.R180H
Missense
SNP
0.291
3Gain-
C1Sp.W40R
Missense
SNP
0.577
2--
C21orf58p.T203M
Missense
SNP
0.353
2--
C2orf91p.Q43*
Nonsense
SNP
0.650
2--
CABCOCO1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1Ep.R1594H
Missense
SNP
0.435
2--
CACNA1Ip.P665L
Missense
SNP
0.636
2--
CACNB2p.T254M
p.R608H
Missense
Missense
SNP
SNP
0.347
0.649
3Gain-
CACUL1-
-
-
-
3Gain-
CADp.R2064C
Missense
SNP
0.444
2--
CALCRLp.F16Lfs*2
Frame_Shift_Del
DEL
0.200
2--
CALHM1-
-
-
-
3Gain-
CALHM2-
-
-
-
3Gain-
CALHM3-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALY-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK2Gp.E461G
Missense
SNP
0.326
3Gain-
CAMKK1p.R510*
Nonsense
SNP
0.607
2--
CAMSAP2p.R1179W
Missense
SNP
0.439
2--
CAMTA2p.P889Lfs*9
p.P547L
Frame_Shift_Del
Missense
DEL
SNP
0.625
0.485
2--
CANXp.R274H
Missense
SNP
0.297
2-AL139099.4--CANX
CARD14p.E929K
Missense
SNP
0.512
2--
CARSp.R453L
Missense
SNP
0.519
2--
CASC1p.I554M
Missense
SNP
0.429
2--
CASC10-
-
-
-
3Gain-
CASP7-
-
-
-
3Gain-
CASS4p.R67H
Missense
SNP
0.524
2--
CASZ1p.T715M
Missense
SNP
0.489
2--
CATIPp.A255T
Missense
SNP
0.529
2--
CBARPp.V706I
Missense
SNP
0.739
2--
CBFA2T2p.E402D
Missense
SNP
0.360
2--
CBLN2-
-
-
-
3Gain-
CC2D2B-
-
-
-
3Gain-
CCAR1p.Q596*
Nonsense
SNP
0.342
3Gain-
CCBE1p.V92I
Missense
SNP
0.242
3Gain-
CCDC102Bp.I270Nfs*31
Frame_Shift_Ins
INS
0.393
3Gain-
CCDC150p.S317Y
p.R971Q
Missense
Missense
SNP
SNP
0.400
0.551
2--
CCDC168p.Q3471Tfs*12
p.N2569Kfs*26
Frame_Shift_Ins
Frame_Shift_Ins
INS
INS
0.292
0.236
2--
CCDC172-
-
-
-
3Gain-
CCDC178-
-
-
-
3Gain-
CCDC186-
-
-
-
3Gain-
CCDC191p.E82D
Missense
SNP
0.471
2--
CCDC3-
-
-
-
3Gain-
CCDC6-
-
-
-
3Gain-
CCDC68-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCDC83p.I184T
Missense
SNP
0.464
2--
CCDC96p.R524H
Missense
SNP
0.555
2--
CCER2p.E232del
In_Frame_Del
DEL
0.435
2--
CCNA1p.S454Cfs*32
Frame_Shift_Ins
INS
0.284
2--
CCNJ-
-
-
-
3Gain-
CCNY-
-
-
-
3Gain-
CCSER2-
-
-
-
3Gain-
CCT2p.R376C
Missense
SNP
0.506
2--
CD163L1p.P890L
Missense
SNP
0.407
2--
CD226-
-
-
-
3Gain-
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.479
2--
CDAp.G52W
Missense
SNP
0.778
2--
CDC123-
-
-
-
3Gain-
CDC42EP4p.V144M
Missense
SNP
0.469
2--
CDH17p.S645Lfs*3
Frame_Shift_Del
DEL
0.553
2--
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH23-
-
-
-
3Gain-
CDH7p.R264Q
Missense
SNP
0.628
3Gain-
CDHR1-
-
-
-
3Gain-
CDK1-
-
-
-
3Gain-
CDK19p.S62L
Missense
SNP
0.458
2--
CDKN2Bp.L93Pfs*70
Frame_Shift_Ins
INS
0.189
2--
CDNF-
-
-
-
3Gain-
CELF2-
-
-
-
3Gain-
CELF3p.V279I
Missense
SNP
0.412
2--
CELF4-
-
-
-
3Gain-
CELSR1p.T1849Rfs*8
Frame_Shift_Del
DEL
0.402
2--
CELSR2p.A1152V
Missense
SNP
0.579
2--
CELSR3p.R1336H
Missense
SNP
0.482
2--
CENPEp.D2662*
Frame_Shift_Ins
INS
0.299
2--
CEP192p.R763C
Missense
SNP
0.320
3Gain-
CEP250p.V728I
Missense
SNP
0.505
2--
CEP55-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP85p.T746I
Missense
SNP
0.689
2--
CETN1-
-
-
-
3Gain-
CFAP43-
-
-
-
3Gain-
CFAP45p.R403H
Missense
SNP
0.519
2--
CFAP46-
-
-
-
3Gain-
CFAP53p.F148L
Missense
SNP
0.720
3Gain-
CFAP58-
-
-
-
3Gain-
CFAP70-
-
-
-
3Gain-
CFTRp.G1047D
Missense
SNP
0.426
2--
CH25H-
-
-
-
3Gain-
CH507-42P11.8p.R587Q
Missense
SNP
0.508
NDND-
CHAT-
-
-
-
3Gain-
CHCHD1-
-
-
-
3Gain-
CHD7p.T1133M
Missense
SNP
0.518
2--
CHD8p.R943C
Missense
SNP
0.574
2--
CHIAp.Q62*
Nonsense
SNP
0.564
2--
CHMP1B-
-
-
-
3Gain-
CHMP2Ap.C173G
Missense
SNP
0.500
2--
CHRNA2p.V352M
p.P143S
Missense
Missense
SNP
SNP
0.381
0.333
2--
CHRNA6p.Y220C
Missense
SNP
0.421
2--
CHRNDp.R244H
Missense
SNP
0.435
2--
CHST15-
-
-
-
3Gain-
CHST3-
-
-
-
3Gain-
CHST5p.A150V
Missense
SNP
0.543
2--
CHST9-
-
-
-
3Gain-
CHUKp.C614Y
Missense
SNP
0.380
3Gain-
CIDEA-
-
-
-
3Gain-
CILP2p.R336*
Nonsense
SNP
0.529
2--
CISD1-
-
-
-
3Gain-
CLDN6p.A102T
Missense
SNP
0.412
2--
CLIP4p.A238D
Missense
SNP
0.611
2--
CLK2p.R121W
Missense
SNP
0.362
2--
CLMNp.K865Rfs*10
Frame_Shift_Del
DEL
0.429
2--
CLP1p.R302H
Missense
SNP
0.518
2--
CLRN3-
-
-
-
3Gain-
CLTCp.I780del
In_Frame_Del
DEL
0.500
2--
CLUL1-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNNM1-
-
-
-
3Gain-
CNNM2-
-
-
-
3Gain-
CNOT1p.R1929*
Nonsense
SNP
0.456
2--
CNOT10p.X754_splice
Splice_Site
SNP
0.383
2--
CNTNAP5p.R782C
Missense
SNP
0.440
2--
COG2p.K127Rfs*5
Frame_Shift_Del
DEL
0.296
2--
COG3p.V465I
Missense
SNP
0.537
2--
COL11A1p.V1658I
Missense
SNP
0.412
2--
COL13A1-
-
-
-
3Gain-
COL17A1p.R177Q
Missense
SNP
0.356
3Gain-
COL18A1p.P772Qfs*16
Frame_Shift_Del
DEL
0.433
2--
COL21A1p.G632Rfs*24
Frame_Shift_Ins
INS
0.352
2--
COL22A1p.P727L
Missense
SNP
0.603
2--
COL3A1p.K275Rfs*9
Frame_Shift_Del
DEL
0.250
2--
COL4A5p.P812H
Missense
SNP
0.676
NDND-
COL6A2p.R734C
Missense
SNP
0.552
2--
COL6A6p.E1487G
Missense
SNP
0.500
2--
COL8A2p.P94Lfs*143
Frame_Shift_Del
DEL
0.455
2--
COLEC12p.G581Afs*65
Frame_Shift_Del
DEL
0.200
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMPp.P416L
Missense
SNP
0.406
2--
COMTD1-
-
-
-
3Gain-
COQ6p.P373L
Missense
SNP
0.469
2--
CORO1Bp.R476C
Missense
SNP
0.552
2--
CORO7p.S433I
Missense
SNP
0.476
2--
COX15-
-
-
-
3Gain-
CPA6p.L310I
Missense
SNP
0.537
2--
CPAMD8p.V1068Wfs*111
Frame_Shift_Del
DEL
0.513
2--
CPEB3-
-
-
-
3Gain-
CPLX4-
-
-
-
3Gain-
CPN1-
-
-
-
3Gain-
CPNE8p.V396Sfs*9
Frame_Shift_Del
DEL
0.542
2--
CPS1p.K133N
Missense
SNP
0.386
2--
CPSF3p.E31K
Missense
SNP
0.471
2--
CPSF4p.R238W
Missense
SNP
0.593
2--
CPSF6p.V156Cfs*6
Frame_Shift_Ins
INS
0.307
2--
CPXM2-
-
-
-
3Gain-
CRAMP1p.R344H
Missense
SNP
0.458
2--
CREBBPp.G101V
Missense
SNP
0.543
2--
CREM-
-
-
-
3Gain-
CRTAC1-
-
-
-
3Gain-
CRTC1p.S588Afs*6
Frame_Shift_Del
DEL
0.556
2--
CRY2p.R362H
Missense
SNP
0.467
2--
CSGALNACT2-
-
-
-
3Gain-
CSNK1Ep.T235M
Missense
SNP
0.454
2--
CSRNP1p.G476D
Missense
SNP
0.409
2--
CST2p.R46H
Missense
SNP
0.468
2--
CSTF2T-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTBP2p.A602T
Missense
SNP
0.333
3Gain-
CTDP1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTNNA3-
-
-
-
3Gain-
CTNND2p.P524L
Missense
SNP
0.474
2--
CUBN-
-
-
-
3Gain-
CUEDC2-
-
-
-
3Gain-
CUL2-
-
-
-
3Gain-
CUL3p.R128H
Missense
SNP
0.500
2--
CUTC-
-
-
-
3Gain-
CUZD1-
-
-
-
3Gain-
CWC27p.V335*
Frame_Shift_Del
DEL
0.571
2--
CWF19L1-
-
-
-
3Gain-
CXCL12-
-
-
-
3Gain-
CXorf56p.A62V
Missense
SNP
0.500
NDND-
CXXC1-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYP17A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
3Gain-
CYP26C1-
-
-
-
3Gain-
CYP2C18-
-
-
-
3Gain-
CYP2C19-
-
-
-
3Gain-
CYP2C8-
-
-
-
3Gain-
CYP2C9-
-
-
-
3Gain-
CYP2E1-
-
-
-
3Gain-
DBF4p.L409Afs*14
Frame_Shift_Ins
INS
0.329
2--
DCC-
-
-
-
3Gain-
DCDC1p.S693L
Missense
SNP
0.510
2--
DCHS1p.R2892Q
Missense
SNP
0.515
2--
DCHS2p.S968R
Missense
SNP
0.500
2--
DCLRE1A-
-
-
-
3Gain-
DCLRE1C-
-
-
-
3Gain-
DCNp.T151Nfs*9
Frame_Shift_Ins
INS
0.292
2--
DCPSp.A282T
Missense
SNP
0.519
2--
DDIT4-
-
-
-
3Gain-
DDX17p.R439H
Missense
SNP
0.415
2--
DDX21-
-
-
-
3Gain-
DDX50-
-
-
-
3Gain-
DDX52p.E518A
Missense
SNP
0.450
2--
DDX59p.N577Ifs*6
Frame_Shift_Del
DEL
0.632
2--
DDX60Lp.Y1625H
Missense
SNP
0.385
2--
DEPP1-
-
-
-
3Gain-
DGKHp.R273H
Missense
SNP
0.610
2--
DGKIp.R791H
Missense
SNP
0.494
2--
DHRS12p.H120Y
Missense
SNP
0.667
2--
DHRS7Cp.R264H
Missense
SNP
0.677
2--
DHTKD1-
-
-
-
3Gain-
DHX32-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DKK1-
-
-
-
3Gain-
DLG5-
-
-
-
3Gain-
DLGAP1-
-
-
-
3Gain-
DLGAP2p.P109L
Missense
SNP
0.545
2--
DMBT1-
-
-
-
3Gain-
DMDp.N3378Tfs*24
Frame_Shift_Del
DEL
0.358
NDND-
DNA2-
-
-
-
3Gain-
DNAH12p.F2251Lfs*15
Frame_Shift_Del
DEL
0.600
2--
DNAH5p.F4486Lfs*7
p.A244T
Frame_Shift_Del
Missense
DEL
SNP
0.370
0.426
2--
DNAJB12-
-
-
-
3Gain-
DNAJC1p.A455T
Missense
SNP
0.265
3Gain-
DNAJC10p.R276*
Nonsense
SNP
0.340
2--
DNAJC11p.R273*
Nonsense
SNP
0.430
2--
DNAJC12-
-
-
-
3Gain-
DNAJC9-
-
-
-
3Gain-
DNMBP-
-
-
-
3Gain-
DNMT3Bp.R538H
Missense
SNP
0.561
2--
DNTT-
-
-
-
3Gain-
DOC2Ap.K312del
In_Frame_Del
DEL
0.450
2--
DOCK1-
-
-
-
3Gain-
DOCK11p.Y2012*
Nonsense
SNP
0.516
NDND-
DOCK7p.P526L
Missense
SNP
0.552
2--
DOK1p.V157A
p.V175M
Missense
Missense
SNP
SNP
0.393
0.439
2--
DOK6-
-
-
-
3Gain-
DPCD-
-
-
-
3Gain-
DPRXp.V95Sfs*7
Frame_Shift_Del
DEL
0.426
2--
DPYSL2p.F20Lfs*104
p.R481H
Frame_Shift_Del
Missense
DEL
SNP
0.439
0.373
2--
DPYSL4-
-
-
-
3Gain-
DRGX-
-
-
-
3Gain-
DROSHAp.R254H
Missense
SNP
0.526
2--
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSPp.R866C
p.R1915C
Missense
Missense
SNP
SNP
0.593
0.558
2--
DTNAp.A498Qfs*40
Frame_Shift_Del
DEL
0.710
3Gain-
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.444
2--
DUPD1-
-
-
-
3Gain-
DUS3Lp.V440I
Missense
SNP
0.375
2--
DUSP13-
-
-
-
3Gain-
DUSP5-
-
-
-
3Gain-
DYDC1-
-
-
-
3Gain-
DYDC2-
-
-
-
3Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1H1p.R2831H
Missense
SNP
0.545
2--
DYRK1Ap.X317_splice
Splice_Site
DEL
0.435
2--
DYSFp.E1039Gfs*11
Frame_Shift_Ins
INS
0.333
2--
EBF3-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
ECD-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
3Gain-
ECI1p.T268M
Missense
SNP
0.522
2--
EDRF1p.N302Mfs*47
Frame_Shift_Del
DEL
0.641
3Gain-
EEF1AKMT2-
-
-
-
3Gain-
EFHC2p.E202D
Missense
SNP
0.812
NDND-
EFNB3p.Q331Rfs*39
Frame_Shift_Del
DEL
0.472
2--
EGR2-
-
-
-
3Gain-
EHBP1L1p.R50H
Missense
SNP
0.677
2--
EIF2B5-
-
-
-
2-AL139099.4--EIF2B5
EIF3A-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
3Gain-
EIF5AL1-
-
-
-
3Gain-
ELAC1-
-
-
-
3Gain-
ELAVL2p.A333V
Missense
SNP
0.412
2--
ELF4p.Q341Rfs*30
Frame_Shift_Del
DEL
0.562
NDND-
ELMO1p.G674R
Missense
SNP
0.500
2--
ELOA2-
-
-
-
3Gain-
ELOA3-
-
-
-
3Gain-
ELOA3B-
-
-
-
3Gain-
ELOA3D-
-
-
-
3Gain-
ELOVL3-
-
-
-
3Gain-
ELOVL7p.R115C
Missense
SNP
0.519
2--
ELP2-
-
-
-
3Gain-
EMC2p.K213E
Missense
SNP
0.575
2--
EMILIN2-
-
-
-
3Gain-
EML6p.A1888T
Missense
SNP
0.320
2--
EMX2-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENO4p.R551C
Missense
SNP
0.292
3Gain-
ENOSF1-
-
-
-
3Gain-
ENPP6p.R35H
Missense
SNP
0.500
2--
ENTPD1-
-
-
-
3Gain-
ENTPD6p.G444S
Missense
SNP
0.560
2--
ENTPD7-
-
-
-
3Gain-
EPB41L3-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPHA2p.T526M
Missense
SNP
0.444
2--
EPHB2p.K1020Rfs*63
Frame_Shift_Del
DEL
0.436
2--
EPPINp.Y107C
Missense
SNP
0.468
2--
ERBINp.D727Ifs*9
p.I883Sfs*28
p.K988Rfs*24
Frame_Shift_Del
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
DEL
0.361
0.366
0.444
2--
ERCC6-
-
-
-
3Gain-
ERCC8p.A7T
Missense
SNP
0.541
2--
ERICH3p.N557I
Missense
SNP
0.528
2--
ERLIN1-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESPL1p.A35V
Missense
SNP
0.465
2--
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.333
2--
EVC2p.T699M
Missense
SNP
0.423
2--
EVI2Ap.A150V
Missense
SNP
0.447
2--
EXOC6-
-
-
-
3Gain-
EXOSC1-
-
-
-
3Gain-
EXTL1p.R31H
Missense
SNP
0.458
2--
EZH1p.A379V
Missense
SNP
0.569
2--
F13A1p.P565L
Missense
SNP
0.509
2--
FAAP100p.L21Pfs*12
Frame_Shift_Ins
INS
0.333
2--
FAM107B-
-
-
-
3Gain-
FAM111Bp.R94H
Missense
SNP
0.468
2--
FAM118Bp.L217F
Missense
SNP
0.424
2--
FAM129Ap.X392_splice
Splice_Site
SNP
0.458
2--
FAM129Cp.P643L
Missense
SNP
0.595
2--
FAM135Ap.S1485L
Missense
SNP
0.411
2--
FAM135Bp.K1101N
Missense
SNP
0.571
2--
FAM13C-
-
-
-
3Gain-
FAM149B1-
-
-
-
3Gain-
FAM160B1-
-
-
-
3Gain-
FAM166Ap.L210R
Missense
SNP
0.432
2--
FAM170B-
-
-
-
3Gain-
FAM171A1-
-
-
-
3Gain-
FAM173Ap.R73*
Nonsense
SNP
0.444
2--
FAM175Ap.N303Ifs*17
Frame_Shift_Del
DEL
0.385
NDND-
FAM186Bp.E667K
Missense
SNP
0.564
2--
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.380
2--
FAM198Bp.A253T
Missense
SNP
0.373
2--
FAM204A-
-
-
-
3Gain-
FAM205Ap.P463S
Missense
SNP
0.362
2--
FAM208Ap.E912G
Missense
SNP
0.526
2--
FAM208B-
-
-
-
3Gain-
FAM209Ap.R43W
Missense
SNP
0.488
2--
FAM210A-
-
-
-
3Gain-
FAM241B-
-
-
-
3Gain-
FAM24A-
-
-
-
3Gain-
FAM24B-
-
-
-
3Gain-
FAM45A-
-
-
-
3Gain-
FAM46Bp.R288W
Missense
SNP
0.571
NDND-
FAM47Bp.A360T
Missense
SNP
0.570
NDND-
FAM50Bp.R25W
Missense
SNP
0.290
2--
FAM53B-
-
-
-
3Gain-
FAM69C-
-
-
-
3Gain-
FAM71E2p.P40L
Missense
SNP
0.562
2--
FAM98Ap.K174Nfs*2
Frame_Shift_Del
DEL
0.488
2--
FANK1-
-
-
-
3Gain-
FAS-
-
-
-
3Gain-
FAT1p.D2158Rfs*20
Frame_Shift_Ins
INS
0.287
2--
FAT2p.G994R
Missense
SNP
0.443
2--
FBH1-
-
-
-
3Gain-
FBLN2p.R1180C
Missense
SNP
0.491
2--
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.404
2--
FBXL15-
-
-
-
3Gain-
FBXL19p.L381Yfs*86
Frame_Shift_Del
DEL
0.513
2--
FBXO15-
-
-
-
3Gain-
FBXW4-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FER1L6p.I975T
Missense
SNP
0.413
2--
FFAR4-
-
-
-
3Gain-
FGD4p.Q793Rfs*31
p.R431H
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.485
2--
FGF6p.V127M
Missense
SNP
0.680
2--
FGF8-
-
-
-
3Gain-
FGFBP3-
-
-
-
3Gain-
FGFR2-
-
-
-
3Gain-
FHAD1p.S26T
Missense
SNP
0.474
2--
FHOD3-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1p.M348L
Missense
SNP
0.495
2--
FLNAp.A1188V
p.A1160T
Missense
Missense
SNP
SNP
0.423
0.350
NDND-
FLOT2p.A400V
Missense
SNP
0.553
2--
FLT4p.P619Lfs*20
p.P30L
Frame_Shift_Del
Missense
DEL
SNP
0.360
0.423
2--
FO681492.1-
-
-
-
3Gain-
FOXA1p.A442T
Missense
SNP
0.557
2--
FOXI1p.R143C
Missense
SNP
0.561
2--
FOXI2p.A77T
Missense
SNP
0.280
3Gain-
FOXP1p.L414*
Frame_Shift_Del
DEL
0.594
2--
FRA10AC1p.R232Efs*96
Frame_Shift_Del
DEL
0.243
3Gain-
FRAT1-
-
-
-
3Gain-
FRAT2-
-
-
-
3Gain-
FREM1p.R507H
Missense
SNP
0.370
2--
FRG2B-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMPD2-
-
-
-
3Gain-
FSIP2p.V5823Yfs*24
Frame_Shift_Del
DEL
0.450
2--
FUOM-
-
-
-
3Gain-
FUT11p.L293P
Missense
SNP
0.356
3Gain-
FUT5p.R14C
Missense
SNP
0.487
2--
FXYD4-
-
-
-
3Gain-
FZD5p.L241M
Missense
SNP
0.626
2--
FZD8-
-
-
-
3Gain-
G6PC2p.R79Q
Missense
SNP
0.436
2--
GABRA6p.V81I
Missense
SNP
0.727
2--
GABRB3p.L170Pfs*11
p.T135A
Frame_Shift_Ins
Missense
INS
SNP
0.311
0.421
2--
GAD2-
-
-
-
3Gain-
GADD45GIP1p.R174H
Missense
SNP
0.508
2--
GALNT1-
-
-
-
3Gain-
GALR1-
-
-
-
3Gain-
GAPTp.P101L
Missense
SNP
0.500
2--
GAREM1-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GBF1p.E12Rfs*35
Frame_Shift_Del
DEL
0.239
3Gain-
GBGT1p.R243H
Missense
SNP
0.512
2--
GDAP1L1p.E199K
Missense
SNP
0.463
2--
GDF10-
-
-
-
3Gain-
GDF2-
-
-
-
3Gain-
GDF5p.R325C
Missense
SNP
0.521
2--
GDI2-
-
-
-
3Gain-
GEMp.R56Q
Missense
SNP
0.639
2--
GEMIN2p.K146Nfs*24
Frame_Shift_Del
DEL
0.500
2--
GFRA1-
-
-
-
3Gain-
GGNp.A115V
Missense
SNP
0.533
2--
GHITM-
-
-
-
3Gain-
GIMAP8p.R81H
Missense
SNP
0.444
2--
GJD4-
-
-
-
3Gain-
GLRX3-
-
-
-
3Gain-
GLTSCR1p.E1438K
Missense
SNP
0.400
NDND-
GLUD1-
-
-
-
3Gain-
GLYCTKp.A481T
Missense
SNP
0.489
2--
GLYR1p.R378Gfs*23
Frame_Shift_Del
DEL
0.326
2--
GM2Ap.R169H
Missense
SNP
0.644
2--
GMEB1p.A499V
Missense
SNP
0.468
2--
GNAL-
-
-
-
3Gain-
GNB1Lp.V108M
Missense
SNP
0.727
2--
GNMTp.D272N
Missense
SNP
0.449
2--
GOLGA4p.E727D
Missense
SNP
0.460
2--
GOLGA7B-
-
-
-
3Gain-
GOLPH3p.T148M
Missense
SNP
0.470
2--
GOT1-
-
-
-
3Gain-
GPAA1p.X389_splice
Splice_Site
SNP
0.342
2--
GPAM-
-
-
-
3Gain-
GPR148p.L174R
Missense
SNP
0.554
2--
GPR158-
-
-
-
3Gain-
GPR26-
-
-
-
3Gain-
GPR34p.S62Cfs*23
Frame_Shift_Del
DEL
0.424
NDND-
GPR75p.P240Lfs*2
Frame_Shift_Del
DEL
0.462
2--
GPR85p.A311V
Missense
SNP
0.485
2--
GPRASP2p.T88M
Missense
SNP
0.439
NDND-
GPRIN2-
-
-
-
3Gain-
GPRIN3p.I138L
Missense
SNP
0.500
2--
GRB10p.A166T
Missense
SNP
0.857
2--
GREB1L-
-
-
-
3Gain-
GRID1-
-
-
-
3Gain-
GRIK2p.N849Tfs*14
Frame_Shift_Del
DEL
0.533
2--
GRIN2Ap.A388T
Missense
SNP
0.395
2--
GRIN2Bp.R1329*
Nonsense
SNP
0.495
2--
GRK5-
-
-
-
3Gain-
GRM5p.R844C
Missense
SNP
0.521
2--
GRP-
-
-
-
3Gain-
GSK3Ap.V133M
Missense
SNP
0.486
2--
GSTO1-
-
-
-
3Gain-
GSTO2-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GUCY1B3p.L472I
Missense
SNP
0.512
NDND-
H2AFY2-
-
-
-
3Gain-
HABP2-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HADHBp.K474N
Missense
SNP
0.426
2--
HAUS1-
-
-
-
3Gain-
HBE1p.A139V
Missense
SNP
0.565
2--
HCN3p.R502H
Missense
SNP
0.379
2--
HDAC5p.I933Lfs*14
Frame_Shift_Del
DEL
0.439
2--
HDGFp.S218Lfs*?
Frame_Shift_Del
DEL
0.320
2--
HDHD2-
-
-
-
3Gain-
HDHD3p.Q92H
Missense
SNP
0.511
2--
HEATR6p.Q693H
Missense
SNP
0.571
2--
HECTD1p.I2041Lfs*27
Frame_Shift_Del
DEL
0.533
2--
HECTD2-
-
-
-
3Gain-
HEG1p.A1267T
Missense
SNP
0.625
2--
HELLSp.N154Ifs*29
Frame_Shift_Del
DEL
0.357
3Gain-
HELZp.A149T
Missense
SNP
0.456
2--
HERC2p.L1089P
Missense
SNP
0.574
2--
HERC4-
-
-
-
3Gain-
HFEp.L122M
Missense
SNP
0.465
2--
HHEX-
-
-
-
3Gain-
HIC2p.T549M
Missense
SNP
0.545
2--
HID1p.A312T
Missense
SNP
0.384
2--
HIF1AN-
-
-
-
3Gain-
HIST1H4Cp.T72I
Missense
SNP
0.356
2--
HK1p.A135V
p.T605M
Missense
Missense
SNP
SNP
0.312
0.272
3Gain-
HKDC1-
-
-
-
3Gain-
HLA-Fp.A203T
Missense
SNP
0.528
2--
HMSD-
-
-
-
3Gain-
HMX2-
-
-
-
3Gain-
HMX3-
-
-
-
3Gain-
HNRNPF-
-
-
-
3Gain-
HNRNPH3-
-
-
-
3Gain-
HNRNPKp.R268W
Missense
SNP
0.694
2--
HOGA1p.R95H
Missense
SNP
0.417
3Gain-
HPCAp.R118Q
Missense
SNP
0.388
2--
HPS1-
-
-
-
3Gain-
HPS6-
-
-
-
3Gain-
HPSE2-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS6ST2p.R94C
Missense
SNP
0.465
NDND-
HSBP1L1-
-
-
-
3Gain-
HSPA12A-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HTR1Ap.V80I
Missense
SNP
0.517
2--
HTR1Bp.A226T
Missense
SNP
0.429
2--
HTR3Ap.S178L
Missense
SNP
0.586
2--
HTR7-
-
-
-
3Gain-
HTRA1-
-
-
-
3Gain-
HTTp.R416H
Missense
SNP
0.667
2--
HUNKp.E596K
Missense
SNP
0.510
2--
ICAM5p.R434H
Missense
SNP
0.474
2--
IDE-
-
-
-
3Gain-
IDH1p.R132H
Missense
SNP
0.467
2--
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IFIT1-
-
-
-
3Gain-
IFIT1B-
-
-
-
3Gain-
IFIT2p.I418Lfs*25
Frame_Shift_Del
DEL
0.327
3Gain-
IFIT3-
-
-
-
3Gain-
IFIT5-
-
-
-
3Gain-
IFNGR1p.K299Nfs*18
Frame_Shift_Del
DEL
0.440
2--
IFNL2p.F137L
p.R152W
Missense
Missense
SNP
SNP
0.050
0.600
2--
IGF2BP1p.G541R
Missense
SNP
0.591
2--
IKZF5-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL17RDp.A453V
Missense
SNP
0.404
2--
IL1RAPL2p.D403N
Missense
SNP
0.481
NDND-
IL2RA-
-
-
-
3Gain-
IL31RAp.G534Efs*7
Frame_Shift_Del
DEL
0.436
2--
ILKAPp.S202Qfs*52
Frame_Shift_Del
DEL
0.500
2--
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
INA-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INPP5A-
-
-
-
3Gain-
INPP5F-
-
-
-
3Gain-
INSM2p.H309N
Missense
SNP
0.534
2--
INSYN2-
-
-
-
3Gain-
INTS5p.S1010del
In_Frame_Del
DEL
0.447
2--
INTS6Lp.R305Q
Missense
SNP
0.477
NDND-
INVSp.N1061Kfs*20
Frame_Shift_Ins
INS
0.252
2--
IPMK-
-
-
-
3Gain-
IRGCp.V89I
Missense
SNP
0.370
2--
IRS1p.R998Vfs*13
Frame_Shift_Del
DEL
0.547
2--
ISL2p.G173E
Missense
SNP
0.312
2--
ISM1p.A412V
Missense
SNP
0.422
2--
ITGA11p.N1031S
Missense
SNP
0.447
2--
ITGA8-
-
-
-
3Gain-
ITGB1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITPRIP-
-
-
-
3Gain-
JAK1p.P430Rfs*2
p.R997W
p.R108Q
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.424
0.475
0.407
2--
JAKMIP3-
-
-
-
3Gain-
JCAD-
-
-
-
3Gain-
JMJD1C-
-
-
-
3Gain-
JPH2p.A595V
Missense
SNP
0.680
2--
JUPp.T201I
Missense
SNP
0.569
2--
KANK3p.D792N
Missense
SNP
0.308
2--
KAT6B-
-
-
-
3Gain-
KATNAL2-
-
-
-
3Gain-
KAZALD1-
-
-
-
3Gain-
KBTBD13p.T162M
Missense
SNP
0.333
2--
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.473
2--
KCNC4p.R413W
Missense
SNP
0.430
2--
KCNG2-
-
-
-
3Gain-
KCNH2p.W497*
p.R472H
Nonsense
Missense
SNP
SNP
0.431
0.390
2--
KCNH5p.V58I
Missense
SNP
0.488
2--
KCNIP2-
-
-
-
3Gain-
KCNJ4p.P433L
Missense
SNP
0.500
2--
KCNK13p.V391Wfs*7
Frame_Shift_Del
DEL
0.395
2--
KCNK18-
-
-
-
3Gain-
KCNMA1-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD18p.S301R
Missense
SNP
0.404
2--
KCTD8p.L209R
Missense
SNP
0.564
2--
KDM4Cp.Y1011Mfs*16
Frame_Shift_Del
DEL
0.421
2--
KDM5Ap.R674Q
Missense
SNP
0.484
2--
KDSR-
-
-
-
3Gain-
KIAA1161p.R673H
Missense
SNP
0.609
NDND-
KIAA1217p.R976Gfs*16
p.A233T
p.T1868A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.611
0.386
0.301
3Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1522p.A247T
Missense
SNP
0.529
2--
KIAA1549p.L283*
Frame_Shift_Del
DEL
0.800
2--
KIAA1614p.P50Qfs*15
Frame_Shift_Del
DEL
0.462
2--
KIF11-
-
-
-
3Gain-
KIF13Ap.A364T
Missense
SNP
0.419
2--
KIF1BP-
-
-
-
3Gain-
KIF20B-
-
-
-
3Gain-
KIF21Bp.V33I
Missense
SNP
0.507
2--
KIF27p.A1067V
Missense
SNP
0.710
2--
KIF3Cp.R410H
Missense
SNP
0.451
2--
KIF5B-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLHL14-
-
-
-
3Gain-
KLHL23p.C126Lfs*2
Frame_Shift_Ins
INS
0.307
2--
KLHL29p.Y227C
Missense
SNP
0.269
2--
KLHL42p.C399Vfs*44
Frame_Shift_Del
DEL
0.356
2--
KLLN-
-
-
-
3Gain-
KMT2Bp.R1235W
p.R1400C
Missense
Missense
SNP
SNP
0.436
0.467
2--
KMT2Cp.S143Vfs*3
p.P1838H
Frame_Shift_Del
Missense
DEL
SNP
0.521
0.433
2--
KMT2Dp.P2354Lfs*30
p.R5086*
p.P877H
Frame_Shift_Del
Nonsense
Missense
DEL
SNP
SNP
0.568
0.415
0.417
2--
KMT2Ep.M1354*
Frame_Shift_Del
DEL
0.365
2--
KNDC1p.Q1704*
Nonsense
SNP
0.664
3Gain-
KPNA4p.H170Pfs*6
Frame_Shift_Ins
INS
0.265
2--
KRASp.G13D
Missense
SNP
0.560
2--
KRBOX1p.Q77Sfs*6
Frame_Shift_Del
DEL
0.667
2--
KRT34p.R376W
Missense
SNP
0.684
2--
KYAT3p.I153T
Missense
SNP
0.545
2--
L3MBTL4-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3p.P1658Lfs*91
p.R1841H
Frame_Shift_Del
Missense
DEL
SNP
0.294
0.554
3Gain-
LAMC3p.R152H
Missense
SNP
0.560
2--
LAMP5p.R230Q
Missense
SNP
0.571
2--
LARP1p.T226Pfs*23
Frame_Shift_Del
DEL
0.458
2--
LARP4B-
-
-
-
3Gain-
LBX1-
-
-
-
3Gain-
LCLAT1p.N222Mfs*21
Frame_Shift_Del
DEL
0.424
2--
LCOR-
-
-
-
3Gain-
LCTp.A952T
p.A694T
Missense
Missense
SNP
SNP
0.471
0.432
2--
LDB1-
-
-
-
3Gain-
LDB3-
-
-
-
3Gain-
LDLRAD4-
-
-
-
3Gain-
LEFTY2p.P286Rfs*41
Frame_Shift_Del
DEL
0.500
2--
LEMD3p.R874H
Missense
SNP
0.073
2--
LEPp.G8R
Missense
SNP
0.609
2--
LGI1-
-
-
-
3Gain-
LGR4p.R304C
Missense
SNP
0.518
2--
LHPP-
-
-
-
3Gain-
LHX2p.T374Pfs*5
Frame_Shift_Del
DEL
0.529
2--
LIG1p.D410N
Missense
SNP
0.429
2--
LIMA1p.T537Lfs*38
Frame_Shift_Del
DEL
0.551
2--
LIPA-
-
-
-
3Gain-
LIPEp.E943D
Missense
SNP
0.422
2--
LIPF-
-
-
-
3Gain-
LIPG-
-
-
-
3Gain-
LIPJ-
-
-
-
3Gain-
LIPK-
-
-
-
3Gain-
LIPM-
-
-
-
3Gain-
LIPN-
-
-
-
3Gain-
LMAN1-
-
-
-
3Gain-
LMLNp.V561I
Missense
SNP
0.560
2--
LOXHD1p.F865L
Missense
SNP
0.217
3Gain-
LOXL3p.R148C
Missense
SNP
0.509
2--
LOXL4p.E431D
Missense
SNP
0.375
3Gain-
LPAp.R1464Q
Missense
SNP
0.385
2--
LPAR5p.R78C
Missense
SNP
0.343
2--
LPIN2-
-
-
-
3Gain-
LRBAp.R1992Q
Missense
SNP
0.508
2--
LRIT1-
-
-
-
3Gain-
LRIT2-
-
-
-
3Gain-
LRMDA-
-
-
-
3Gain-
LRP1p.R1628H
Missense
SNP
0.482
2--
LRP1Bp.G1820E
Missense
SNP
0.633
2--
LRRC18-
-
-
-
3Gain-
LRRC20-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC3Bp.T201Lfs*17
Frame_Shift_Del
DEL
0.459
2--
LRRC46p.P282H
Missense
SNP
0.465
2--
LRRIQ3p.K244Nfs*17
Frame_Shift_Del
DEL
0.500
2--
LRRTM3-
-
-
-
3Gain-
LYSTp.R3449Q
Missense
SNP
0.390
2--
LYZL1p.G102S
Missense
SNP
0.364
3Gain-
LYZL2-
-
-
-
3Gain-
LZTR1p.A392V
Missense
SNP
0.463
2--
LZTS2-
-
-
-
3Gain-
MAATS1p.R618H
Missense
SNP
0.577
2--
MACF1p.R4914H
Missense
SNP
0.500
2--
MAGED2p.X362_splice
Splice_Site
SNP
0.494
NDND-
MAGEH1p.S56N
Missense
SNP
0.491
NDND-
MALRD1-
-
-
-
3Gain-
MALT1p.G126*
Nonsense
SNP
0.413
3Gain-
MAOAp.R454*
Nonsense
SNP
0.609
NDND-
MAP1Sp.S595*
Frame_Shift_Ins
INS
0.314
2--
MAP3K8-
-
-
-
3Gain-
MAP3K9p.R445H
Missense
SNP
0.456
2--
MAP4K3p.G190Vfs*16
Frame_Shift_Del
DEL
0.365
2--
MAP4K5p.P590Tfs*29
Frame_Shift_Ins
INS
0.328
2--
MAPK4-
-
-
-
3Gain-
MAPK8-
-
-
-
3Gain-
MAPK8IP2p.R461*
Nonsense
SNP
0.500
2--
MAPKAPK3p.R31Afs*47
Frame_Shift_Ins
INS
0.375
2--
MAPRE2p.A45V
Missense
SNP
0.186
3Gain-
MARCH5-
-
-
-
3Gain-
MARCH8-
-
-
-
3Gain-
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.331
2--
MARVELD1-
-
-
-
3Gain-
MASP1p.S272N
Missense
SNP
0.524
2--
MAST1p.G563D
p.G1280D
Missense
Missense
SNP
SNP
0.495
0.397
2--
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
3Gain-
MAZp.F14Lfs*34
Frame_Shift_Ins
INS
0.351
2--
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBL2-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTPS1p.G751R
Missense
SNP
0.541
2--
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCCC1p.A670V
Missense
SNP
0.550
2--
MCHR2p.R140*
Nonsense
SNP
0.478
2--
MCM10-
-
-
-
3Gain-
MCM4p.T629Qfs*18
Frame_Shift_Del
DEL
0.667
2--
MCM5p.R114Q
Missense
SNP
0.646
2--
MCMBP-
-
-
-
3Gain-
MCPH1p.T468Pfs*32
Frame_Shift_Del
DEL
0.361
2--
MCTP1p.F877Ifs*4
Frame_Shift_Ins
INS
0.321
2--
MCU-
-
-
-
3Gain-
MDH1Bp.V475I
Missense
SNP
0.450
2--
MDN1p.E2692*
Frame_Shift_Ins
INS
0.343
2--
ME2-
-
-
-
3Gain-
MEGF6p.A1440Hfs*78
Frame_Shift_Del
DEL
0.446
2--
MEIG1-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MESTp.R167Q
Missense
SNP
0.575
2--
METTL4-
-
-
-
3Gain-
METTL9p.L110M
Missense
SNP
0.263
2--
MEX3Bp.Y55Rfs*21
Frame_Shift_Del
DEL
0.455
2--
MEX3C-
-
-
-
3Gain-
MFSD1p.R58W
Missense
SNP
0.433
2--
MFSD13A-
-
-
-
3Gain-
MFSD4Bp.C202Vfs*4
Frame_Shift_Del
DEL
0.423
2--
MFSD7p.A108V
Missense
SNP
0.532
NDND-
MGMT-
-
-
-
3Gain-
MIA3p.R1809H
Missense
SNP
0.329
2--
MIB1-
-
-
-
3Gain-
MICAL1p.G115R
Missense
SNP
0.452
2--
MICAL3p.R1405Gfs*33
Frame_Shift_Del
DEL
0.557
2--
MICALCLp.S51Afs*49
p.R261Q
Frame_Shift_Del
Missense
DEL
SNP
0.516
0.424
NDND-
MICU1-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINPP1-
-
-
-
3Gain-
MISPp.G116R
Missense
SNP
0.562
2--
MKI67-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLC1p.L217M
Missense
SNP
0.478
2--
MLLT10-
-
-
-
3Gain-
MLLT3p.R556C
Missense
SNP
0.450
2--
MLXIPp.R214C
p.A498T
Missense
Missense
SNP
SNP
0.375
0.490
2--
MMP21-
-
-
-
3Gain-
MMRN2-
-
-
-
3Gain-
MMS19-
-
-
-
3Gain-
MMS22Lp.G527C
Missense
SNP
0.417
2--
MOCOS-
-
-
-
3Gain-
MORN4-
-
-
-
3Gain-
MPP7-
-
-
-
3Gain-
MPPE1p.E83Gfs*40
Frame_Shift_Ins
INS
0.234
3Gain-
MRC1-
-
-
-
3Gain-
MRGPRFp.A97V
Missense
SNP
0.527
2--
MRO-
-
-
-
3Gain-
MROH2Bp.I1372Sfs*5
p.A913V
Frame_Shift_Del
Missense
DEL
SNP
0.479
0.476
2--
MROH8p.L976I
Missense
SNP
0.515
2--
MRPL43-
-
-
-
3Gain-
MRPS16-
-
-
-
3Gain-
MSMB-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSS51-
-
-
-
3Gain-
MST1Rp.V898M
Missense
SNP
0.446
2--
MTA1p.R682C
Missense
SNP
0.602
2--
MTCL1-
-
-
-
3Gain-
MTG1-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTX1p.R8Afs*110
Frame_Shift_Del
DEL
0.408
2--
MUC17p.P935L
Missense
SNP
0.460
2--
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC5ACp.M5088I
Missense
SNP
0.564
2--
MXI1-
-
-
-
3Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.444
2--
MYCBP2p.G3497*
Nonsense
SNP
0.387
2--
MYCNp.A220D
Missense
SNP
0.548
2--
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.282
2--
MYH1p.A376T
Missense
SNP
0.472
2--
MYH10p.Q886R
Missense
SNP
0.606
2--
MYH9p.L812I
Missense
SNP
0.505
2--
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL7p.Q79R
Missense
SNP
0.422
2--
MYO15Ap.P2508Lfs*35
Frame_Shift_Del
DEL
0.557
2--
MYO1Gp.R37C
Missense
SNP
0.541
2--
MYO3A-
-
-
-
3Gain-
MYO5Ap.A695T
Missense
SNP
0.476
2--
MYO5B-
-
-
-
3Gain-
MYO7Bp.P107L
Missense
SNP
0.510
2--
MYOD1p.P172Lfs*39
Frame_Shift_Del
DEL
0.523
2--
MYOFp.I1430V
Missense
SNP
0.286
3Gain-
MYOM1-
-
-
-
3Gain-
MYOM3p.E1430K
Missense
SNP
0.472
2--
MYOZ1-
-
-
-
3Gain-
MYPNp.I891*
Frame_Shift_Del
DEL
0.359
3Gain-
NANOS1-
-
-
-
3Gain-
NAP1L5p.A32V
Missense
SNP
0.645
2--
NAPG-
-
-
-
3Gain-
NARSp.V536M
Missense
SNP
0.242
3Gain-
NCKIPSDp.F631del
In_Frame_Del
DEL
0.640
2--
NCOA2p.V1419M
Missense
SNP
0.594
2--
NCOA4-
-
-
-
3Gain-
NDC80p.T571M
Missense
SNP
0.602
3Gain-
NDST2-
-
-
-
3Gain-
NDUFAF7p.A290V
Missense
SNP
0.455
2--
NDUFB8-
-
-
-
3Gain-
NDUFS7p.A187T
Missense
SNP
0.514
2--
NDUFV2-
-
-
-
3Gain-
NEBL-
-
-
-
3Gain-
NEDD4Lp.N156Mfs*51
Frame_Shift_Del
DEL
0.594
3Gain-
NEK1p.D1179Y
Missense
SNP
0.536
2--
NEK10p.A529V
Missense
SNP
0.456
2--
NEK4p.R743W
Missense
SNP
0.468
2--
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEURL1-
-
-
-
3Gain-
NEURL1Bp.R533Q
Missense
SNP
0.459
2--
NEURL4p.L1256Cfs*12
Frame_Shift_Del
DEL
0.493
2--
NEUROD6p.K83Rfs*35
Frame_Shift_Del
DEL
0.331
2--
NEUROG3-
-
-
-
3Gain-
NFATC1-
-
-
-
3Gain-
NFE2p.R300Q
Missense
SNP
0.523
2--
NFKB2-
-
-
-
3Gain-
NHLRC2-
-
-
-
3Gain-
NHSp.V190I
Missense
SNP
0.402
NDND-
NHSL2p.S123L
Missense
SNP
0.462
NDND-
NID1p.S600F
Missense
SNP
0.458
2--
NKX1-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
3Gain-
NKX2-8p.Q116H
Missense
SNP
0.562
2--
NKX6-2-
-
-
-
3Gain-
NLRC5p.R1500W
Missense
SNP
0.586
2--
NLRP2p.R587Q
Missense
SNP
0.472
2--
NLRP6p.A826T
Missense
SNP
0.441
2--
NLRP8p.E619G
Missense
SNP
0.461
2--
NMT2-
-
-
-
3Gain-
NOC3L-
-
-
-
3Gain-
NODAL-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOLC1-
-
-
-
3Gain-
NOTCH1p.Q462*
Nonsense
SNP
0.526
2--
NOVA1p.K210N
Missense
SNP
0.614
2--
NOVA2p.V221M
Missense
SNP
0.350
2--
NPC1-
-
-
-
3Gain-
NPFFR1-
-
-
-
3Gain-
NPM3-
-
-
-
3Gain-
NPRL3p.Y531H
Missense
SNP
0.438
2--
NPS-
-
-
-
3Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR2F1p.N263D
Missense
SNP
0.413
2--
NR3C2p.V618A
Missense
SNP
0.506
2--
NRAP-
-
-
-
3Gain-
NRBF2-
-
-
-
3Gain-
NRG1p.E79*
Nonsense
SNP
0.467
2--
NRG3-
-
-
-
3Gain-
NRKp.Q410H
p.Q809R
Missense
Missense
SNP
SNP
0.537
0.453
NDND-
NRP1-
-
-
-
3Gain-
NSD1p.M1531Cfs*43
Frame_Shift_Del
DEL
0.622
2--
NSMCE4A-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NT5C2-
-
-
-
3Gain-
NTHL1p.V127Gfs*43
Frame_Shift_Ins
INS
0.329
2--
NTNG2p.G144S
Missense
SNP
0.615
2--
NTRK1p.R347H
Missense
SNP
0.346
2--
NUDT13-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUP133p.K968del
In_Frame_Del
DEL
0.389
2--
NXPH4p.G210Afs*166
Frame_Shift_Del
DEL
0.556
2--
NYAP1p.V572Gfs*4
Frame_Shift_Ins
INS
0.317
2--
OAT-
-
-
-
3Gain-
OBSCNp.G2909E
Missense
SNP
0.656
2--
ODF2p.A768V
Missense
SNP
0.527
2--
OGA-
-
-
-
3Gain-
OGDHL-
-
-
-
3Gain-
OIT3p.P538L
Missense
SNP
0.429
3Gain-
OLAH-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
OPALIN-
-
-
-
3Gain-
OPN4-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR13A1-
-
-
-
3Gain-
OR13C3p.A149T
Missense
SNP
0.531
2--
OR13H1p.R298W
Missense
SNP
0.500
NDND-
OR14C36p.F105Lfs*28
Frame_Shift_Del
DEL
0.370
2--
OR1A2p.R122*
Nonsense
SNP
0.594
2--
OR1S2p.I26T
Missense
SNP
0.358
2--
OR2J1p.N287H
Missense
SNP
0.408
2--
OR2J2p.N6Mfs*21
Frame_Shift_Del
DEL
0.500
2--
OR4C12p.R258C
Missense
SNP
0.500
2--
OR4D6p.T241M
Missense
SNP
0.443
2--
OR4D9p.S116C
Missense
SNP
0.436
2--
OR51B5p.M63I
Missense
SNP
0.593
2--
OR5D14p.G46W
Missense
SNP
0.467
2--
OR6C75p.R221W
Missense
SNP
0.472
2--
OR6C76p.K311Tfs*?
Frame_Shift_Del
DEL
0.786
2--
OR6N1p.R165C
Missense
SNP
0.370
2--
OR7A10p.I46T
Missense
SNP
0.412
2--
OR7G2p.Y280H
Missense
SNP
0.484
2--
OR8B12p.S234F
Missense
SNP
0.500
2--
OR8K3p.F311Lfs*?
Frame_Shift_Del
DEL
0.289
2--
OSBPL1A-
-
-
-
3Gain-
OTUD1-
-
-
-
3Gain-
P2RX3p.D306Y
Missense
SNP
0.615
2--
P2RX5p.Y338C
Missense
SNP
0.326
2--
P3H2p.K430Sfs*6
Frame_Shift_Del
DEL
0.585
2--
P4HA1-
-
-
-
3Gain-
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.292
2--
PALD1-
-
-
-
3Gain-
PANK1-
-
-
-
3Gain-
PAOX-
-
-
-
3Gain-
PAPSS2-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARD3Bp.R932G
Missense
SNP
0.520
2--
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
3Gain-
PAX1p.R197H
Missense
SNP
0.503
2--
PAX2-
-
-
-
3Gain-
PAX7p.A259V
Missense
SNP
0.600
2--
PBLD-
-
-
-
3Gain-
PBX1p.G124R
Missense
SNP
0.500
2--
PCp.R453Q
Missense
SNP
0.625
2--
PCBD1-
-
-
-
3Gain-
PCDH1p.K1028Qfs*33
Frame_Shift_Ins
INS
0.328
2--
PCDH12p.L685Yfs*7
Frame_Shift_Del
DEL
0.477
2--
PCDH15-
-
-
-
3Gain-
PCDH18p.E1007K
Missense
SNP
0.684
2--
PCDH9p.A526V
Missense
SNP
0.531
2--
PCDHA3p.R62H
Missense
SNP
0.522
2--
PCDHA6p.R428W
Missense
SNP
0.303
2--
PCDHB16p.I142Yfs*7
Frame_Shift_Del
DEL
0.611
2--
PCDHGA11p.R12W
Missense
SNP
0.375
2--
PCDHGA3p.A578V
Missense
SNP
0.480
2--
PCGF5-
-
-
-
3Gain-
PCGF6-
-
-
-
3Gain-
PCK1p.I612Rfs*5
Frame_Shift_Ins
INS
0.317
2--
PCK2p.A448T
Missense
SNP
0.364
2--
PCLOp.L2443Vfs*15
p.S3436G
p.S1052L
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.258
0.461
0.441
2--
PCNX1p.E466K
Missense
SNP
0.681
2--
PCSK1Np.A31Rfs*7
Frame_Shift_Del
DEL
0.565
NDND-
PCSK9p.R93H
Missense
SNP
0.352
2--
PCYOX1p.R484C
Missense
SNP
0.527
2--
PDCD11-
-
-
-
3Gain-
PDCD4-
-
-
-
3Gain-
PDE3Ap.E171Gfs*49
Frame_Shift_Ins
INS
0.301
2--
PDE5Ap.H617Y
Missense
SNP
0.608
2--
PDE6C-
-
-
-
3Gain-
PDLIM1-
-
-
-
3Gain-
PDLIM4p.R16H
Missense
SNP
0.905
2--
PDSS1-
-
-
-
3Gain-
PDZD2p.K104Qfs*38
p.L2392W
Frame_Shift_Ins
Missense
INS
SNP
0.280
0.509
2--
PDZD7-
-
-
-
3Gain-
PDZD8-
-
-
-
3Gain-
PEG3p.S403L
Missense
SNP
0.526
2--
PET100p.R37H
Missense
SNP
0.508
2--
PFKFB3-
-
-
-
3Gain-
PFKPp.R265Gfs*2
p.I320V
Frame_Shift_Del
Missense
DEL
SNP
0.466
0.622
3Gain-
PGAM1-
-
-
-
3Gain-
PHF13p.A145T
Missense
SNP
0.552
2--
PHF21Ap.P652Lfs*104
Frame_Shift_Del
DEL
0.458
2--
PHKG2p.R71W
Missense
SNP
0.350
2--
PHLPP1-
-
-
-
3Gain-
PHRF1p.P938Qfs*23
Frame_Shift_Del
DEL
0.440
2--
PHYH-
-
-
-
3Gain-
PHYHIPL-
-
-
-
3Gain-
PI4K2A-
-
-
-
3Gain-
PIAS2-
-
-
-
3Gain-
PIEZO2-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGZp.P150L
Missense
SNP
0.592
2--
PIK3AP1-
-
-
-
3Gain-
PIK3C2Bp.R287Pfs*38
Frame_Shift_Ins
INS
0.279
2--
PIK3C3-
-
-
-
3Gain-
PIK3CDp.C355Y
Missense
SNP
0.308
2--
PIK3R4p.V448I
Missense
SNP
0.483
2--
PIP4K2A-
-
-
-
3Gain-
PIP5KL1p.R9Afs*47
Frame_Shift_Del
DEL
0.485
2--
PITRM1-
-
-
-
3Gain-
PITX3-
-
-
-
3Gain-
PIWIL3p.R256H
Missense
SNP
0.472
2--
PKD2L1-
-
-
-
3Gain-
PKN2p.F590S
p.E854D
Missense
Missense
SNP
SNP
0.400
0.551
2--
PLA2G12B-
-
-
-
3Gain-
PLAC9-
-
-
-
3Gain-
PLATp.T46M
Missense
SNP
0.558
2--
PLAU-
-
-
-
3Gain-
PLCE1-
-
-
-
3Gain-
PLD3p.A402V
Missense
SNP
0.534
2--
PLD5p.V376I
Missense
SNP
0.463
2--
PLECp.T3608M
p.E2305*
p.R609H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.440
0.533
0.500
2--
PLEKHA1-
-
-
-
3Gain-
PLEKHG4p.N1113D
Missense
SNP
0.453
2--
PLEKHO1p.Q256Rfs*6
Frame_Shift_Del
DEL
0.476
2--
PLEKHS1-
-
-
-
3Gain-
PLPP4-
-
-
-
3Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA1p.D1478N
Missense
SNP
0.478
2--
PMAIP1-
-
-
-
3Gain-
PMS2p.R199C
Missense
SNP
0.540
2--
PNISRp.R697Gfs*15
Frame_Shift_Del
DEL
0.522
2--
PNLIP-
-
-
-
3Gain-
PNLIPRP1-
-
-
-
3Gain-
PNLIPRP2-
-
-
-
3Gain-
PNLIPRP3-
-
-
-
3Gain-
PNPLA2p.A432T
Missense
SNP
0.500
2--
PNPLA6p.A533T
Missense
SNP
0.622
2--
POLGp.R574Q
Missense
SNP
0.432
2--
POLI-
-
-
-
3Gain-
POLL-
-
-
-
3Gain-
POLR1Dp.R83H
Missense
SNP
0.420
2--
POLR3A-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F2p.S577G
Missense
SNP
0.420
2--
PP2D1p.I173V
Missense
SNP
0.404
2--
PPA1-
-
-
-
3Gain-
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.407
2--
PPFIA2p.R50W
Missense
SNP
0.321
2--
PPIF-
-
-
-
3Gain-
PPIGp.R248*
Nonsense
SNP
0.542
2--
PPIL1p.R72*
Nonsense
SNP
0.576
2--
PPLp.R419Q
Missense
SNP
0.385
2--
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.354
2--
PPP1R13Lp.A195T
Missense
SNP
0.593
2--
PPP1R3C-
-
-
-
3Gain-
PPP2R1Ap.T524M
Missense
SNP
0.479
2--
PPP2R2D-
-
-
-
3Gain-
PPP3CB-
-
-
-
3Gain-
PPP4R1-
-
-
-
3Gain-
PPRC1-
-
-
-
3Gain-
PQLC1-
-
-
-
3Gain-
PRAP1-
-
-
-
3Gain-
PRDX3-
-
-
-
3Gain-
PRDX4p.R171Efs*6
Frame_Shift_Del
DEL
0.234
NDND-
PRELID3A-
-
-
-
3Gain-
PRELPp.N334Qfs*8
Frame_Shift_Ins
INS
0.299
2--
PRF1-
-
-
-
3Gain-
PRG4p.T367I
Missense
SNP
0.560
2--
PRICKLE3p.Q533R
Missense
SNP
0.515
NDND-
PRKCQ-
-
-
-
3Gain-
PRKG1-
-
-
-
3Gain-
PRLHR-
-
-
-
3Gain-
PROM2p.E728Vfs*17
Frame_Shift_Del
DEL
0.369
2--
PROSCp.Q71H
Missense
SNP
0.474
NDND-
PROSER2-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF40Bp.P40L
p.R491*
Missense
Nonsense
SNP
SNP
0.353
0.645
2--
PRPF8p.R49W
Missense
SNP
0.405
2--
PRR12p.F1281L
Missense
SNP
0.575
2--
PRR14Lp.F1767del
In_Frame_Del
DEL
0.451
2--
PRR16p.C172Y
Missense
SNP
0.507
2--
PRR26-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRXL2A-
-
-
-
3Gain-
PSAP-
-
-
-
3Gain-
PSD-
-
-
-
3Gain-
PSEN1p.S178Hfs*24
Frame_Shift_Del
DEL
0.514
2--
PSG2p.A263V
Missense
SNP
0.451
2--
PSMA8-
-
-
-
3Gain-
PSMC5p.E396G
Missense
SNP
0.525
2--
PSMG2-
-
-
-
3Gain-
PSTK-
-
-
-
3Gain-
PSTPIP2-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTEN-
-
-
-
3Gain-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTNp.V42*
Frame_Shift_Del
DEL
0.421
2--
PTOV1p.*417Sfs*14
Frame_Shift_Del
DEL
0.432
2--
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPRDp.V1848I
p.R401W
Missense
Missense
SNP
SNP
0.350
0.500
2--
PTPRE-
-
-
-
3Gain-
PTPRM-
-
-
-
3Gain-
PTPRTp.P372L
Missense
SNP
0.458
2--
PUM1p.R922Q
Missense
SNP
0.471
2--
PWWP2B-
-
-
-
3Gain-
PYROXD2-
-
-
-
3Gain-
QKIp.A273V
Missense
SNP
0.462
2--
R3HCC1L-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
3Gain-
RAB11FIP4p.T257M
Missense
SNP
0.419
2--
RAB12-
-
-
-
3Gain-
RAB17p.A204V
Missense
SNP
0.641
2--
RAB18p.P4S
Missense
SNP
0.310
3Gain-
RAB27B-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB40Cp.K261N
Missense
SNP
0.434
2--
RAB4Bp.R129W
Missense
SNP
0.516
2--
RADILp.V165M
Missense
SNP
0.485
2--
RAI2p.V474M
Missense
SNP
0.438
NDND-
RALBP1-
-
-
-
3Gain-
RALGAPBp.F971Sfs*53
Frame_Shift_Del
DEL
0.432
2--
RANBP3p.T292M
Missense
SNP
0.424
2--
RANGAP1p.G21Dfs*3
Frame_Shift_Del
DEL
0.333
2--
RAP1GAPp.S554L
Missense
SNP
0.438
2--
RASAL3p.R39H
Missense
SNP
0.579
2--
RASGEF1A-
-
-
-
3Gain-
RASGRP3p.R549Q
Missense
SNP
0.517
2--
RASL11Bp.R109C
Missense
SNP
0.491
2--
RASSF4-
-
-
-
3Gain-
RAX-
-
-
-
3Gain-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBM10p.R397H
Missense
SNP
0.463
NDND-
RBM14p.F191Lfs*40
Frame_Shift_Del
DEL
0.375
2--
RBM17-
-
-
-
3Gain-
RBM20p.R1057Q
Missense
SNP
0.690
3Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.607
2--
RBM46p.R266W
Missense
SNP
0.517
2--
RBM47p.G112S
Missense
SNP
0.511
2--
RBM48p.P217H
Missense
SNP
0.473
2--
RBM4Bp.P154Lfs*24
Frame_Shift_Del
DEL
0.551
2--
RBP3-
-
-
-
3Gain-
RBP4-
-
-
-
3Gain-
RCAN3p.A151S
Missense
SNP
0.711
2--
RCC1p.R33H
Missense
SNP
0.589
2--
RDH10.
Missense
DEL
0.493
2--
REEP3-
-
-
-
3Gain-
RELAp.H487Pfs*4
Frame_Shift_Ins
INS
0.317
2--
RELCH-
-
-
-
3Gain-
RET-
-
-
-
3Gain-
RETSATp.A586T
Missense
SNP
0.323
2--
REV3Lp.A2064S
Missense
SNP
0.434
2--
RFX5p.P19Qfs*28
Frame_Shift_Del
DEL
0.389
2--
RGR-
-
-
-
3Gain-
RGS10-
-
-
-
3Gain-
RGS12p.P1357L
Missense
SNP
0.562
2--
RGS9p.A547T
Missense
SNP
0.466
2--
RHOBTB1-
-
-
-
3Gain-
RHOXF1p.D174Tfs*22
Frame_Shift_Del
DEL
0.386
NDND-
RICTORp.M1511T
Missense
SNP
0.432
2--
RINT1p.P247Lfs*8
Frame_Shift_Del
DEL
0.436
2--
RIOK3-
-
-
-
3Gain-
RIPK4p.A147T
Missense
SNP
0.350
2--
RIT2-
-
-
-
3Gain-
RLFp.R721*
Nonsense
SNP
0.515
2--
RMC1-
-
-
-
3Gain-
RNF113Bp.G104V
Missense
SNP
0.517
2--
RNF121p.R194W
Missense
SNP
0.397
2--
RNF123p.G207D
Missense
SNP
0.312
2--
RNF125-
-
-
-
3Gain-
RNF128p.R6M
Missense
SNP
0.333
NDND-
RNF138-
-
-
-
3Gain-
RNF145p.F434S
Missense
SNP
0.490
2--
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF20p.R512C
Missense
SNP
0.460
2--
RNLS-
-
-
-
3Gain-
RNMTp.T394Hfs*19
Frame_Shift_Del
DEL
0.114
3Gain-
ROBO2p.L601P
Missense
SNP
0.500
2--
ROCK1-
-
-
-
3Gain-
ROS1p.V2276A
p.G1915R
Missense
Missense
SNP
SNP
0.466
0.356
2--
RP11-310K10.1p.A353T
Missense
SNP
0.520
NDND-
RPEL1-
-
-
-
3Gain-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.462
2--
RPL3Lp.A75V
Missense
SNP
0.636
2--
RPL7Ap.K11del
In_Frame_Del
DEL
0.354
2--
RPP30-
-
-
-
3Gain-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
3Gain-
RPS17-
-
-
-
2-RPS17P14--RPS17
RPS17P14-
-
-
-
NDNDRPS17P14--RPS17
RPS24-
-
-
-
3Gain-
RPS27p.V62I
Missense
SNP
0.526
2--
RPTN-
-
-
-
3Gain-
RPUSD4p.R235W
Missense
SNP
0.456
2--
RREB1p.S600N
Missense
SNP
0.585
2--
RRP12-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTCAp.T334M
Missense
SNP
0.400
2--
RTF1p.R333*
Nonsense
SNP
0.433
2--
RTKN2-
-
-
-
3Gain-
RTTN-
-
-
-
3Gain-
RUFY2-
-
-
-
3Gain-
SACSp.K1717Nfs*8
p.F1581L
Frame_Shift_Del
Missense
DEL
SNP
0.379
0.467
2--
SALL3p.T658M
Missense
SNP
0.583
3Gain-
SAMD8-
-
-
-
3Gain-
SAR1A-
-
-
-
3Gain-
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.355
2--
SCART1-
-
-
-
3Gain-
SCD-
-
-
-
3Gain-
SCN5Ap.K1683N
Missense
SNP
0.458
2--
SCN8Ap.W942C
Missense
SNP
0.455
2--
SCRIBp.F1211L
Missense
SNP
0.623
2--
SCTRp.L35P
Missense
SNP
0.358
2--
SDK1p.R140C
Missense
SNP
0.385
2--
SEC11C-
-
-
-
3Gain-
SEC14L5p.A349V
Missense
SNP
0.348
2--
SEC16Bp.V643M
Missense
SNP
0.520
2--
SEC23IP-
-
-
-
3Gain-
SEC24Cp.Q459Pfs*17
Frame_Shift_Ins
INS
0.184
3Gain-
SEC31Bp.D564G
Missense
SNP
0.321
3Gain-
SEC61A2-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SEL1L3p.R94C
Missense
SNP
0.585
2--
SEMA4G-
-
-
-
3Gain-
SEMA5Bp.P325L
Missense
SNP
0.500
2--
SEMG1p.A241V
Missense
SNP
0.485
2--
SENP6p.R1072*
Nonsense
SNP
0.450
2--
SENP7p.K545Nfs*11
Frame_Shift_Del
DEL
0.500
2--
SEPHS1-
-
-
-
3Gain-
SERAC1p.V8I
Missense
SNP
0.528
2--
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12p.N170Tfs*39
Frame_Shift_Del
DEL
0.308
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SESTD1p.R268C
Missense
SNP
0.603
2--
SETBP1-
-
-
-
3Gain-
SETD1Bp.H8Tfs*27
p.S291N
Frame_Shift_Del
Missense
DEL
SNP
0.880
0.538
2--
SETD5p.S1286Lfs*37
Frame_Shift_Ins
INS
0.338
2--
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
3Gain-
SFRP5-
-
-
-
3Gain-
SFTPA1-
-
-
-
3Gain-
SFTPA2-
-
-
-
3Gain-
SFTPD-
-
-
-
3Gain-
SFXN2p.D75G
Missense
SNP
0.554
3Gain-
SFXN3-
-
-
-
3Gain-
SFXN4-
-
-
-
3Gain-
SGMS1-
-
-
-
3Gain-
SGO1p.M325Cfs*28
Frame_Shift_Del
DEL
0.532
2--
SGPL1-
-
-
-
3Gain-
SH2D4B-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
3Gain-
SHC2p.P407Rfs*37
Frame_Shift_Del
DEL
0.389
2--
SHISA7p.G359Afs*178
Frame_Shift_Del
DEL
0.441
2--
SHLD2-
-
-
-
3Gain-
SHOC2-
-
-
-
3Gain-
SHROOM2p.R753Q
Missense
SNP
0.532
NDND-
SHROOM4p.K1314Rfs*23
p.R242C
Frame_Shift_Del
Missense
DEL
SNP
0.477
0.564
NDND-
SHTN1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
3Gain-
SIRT1-
-
-
-
3Gain-
SIX5p.A625Pfs*31
Frame_Shift_Del
DEL
0.385
2--
SKA1-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKOR2-
-
-
-
3Gain-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC16A10p.I282Ffs*9
Frame_Shift_Del
DEL
0.373
2--
SLC16A12-
-
-
-
3Gain-
SLC16A2p.G147R
Missense
SNP
0.583
NDND-
SLC16A9-
-
-
-
3Gain-
SLC18A2-
-
-
-
3Gain-
SLC18A3-
-
-
-
3Gain-
SLC19A3p.R277H
Missense
SNP
0.506
2--
SLC1A7p.T406I
Missense
SNP
0.478
2--
SLC22A16p.T87M
Missense
SNP
0.347
2--
SLC22A6p.R192W
Missense
SNP
0.375
2--
SLC25A16-
-
-
-
3Gain-
SLC25A24p.G192R
Missense
SNP
0.477
2--
SLC25A28-
-
-
-
3Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A1p.R365H
Missense
SNP
0.613
2--
SLC27A4p.A554S
Missense
SNP
0.337
2--
SLC29A3-
-
-
-
3Gain-
SLC30A8p.S183R
Missense
SNP
0.515
2--
SLC35G1-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13p.A279T
Missense
SNP
0.263
2--
SLC39A6-
-
-
-
3Gain-
SLC44A4p.V238Wfs*5
Frame_Shift_Del
DEL
0.477
2--
SLC45A1p.P494L
Missense
SNP
0.320
2--
SLC4A10p.R127C
Missense
SNP
0.526
2--
SLC5A6p.R142*
Nonsense
SNP
0.542
2--
SLC9C1p.F10Sfs*11
Frame_Shift_Del
DEL
0.514
2--
SLCO4A1p.T297M
Missense
SNP
0.591
2--
SLF2-
-
-
-
3Gain-
SLIT1-
-
-
-
3Gain-
SLITRK5p.N762Tfs*12
Frame_Shift_Del
DEL
0.556
2--
SLK-
-
-
-
3Gain-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7p.P209Lfs*115
Frame_Shift_Del
DEL
0.234
3Gain-
SMARCA1p.K57del
In_Frame_Del
DEL
0.392
NDND-
SMARCA4p.G271Rfs*16
p.G911D
p.R1157Q
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.308
0.585
0.571
2--
SMARCD1p.R503*
Nonsense
SNP
0.390
2--
SMC2p.K368E
Missense
SNP
0.542
2--
SMC3-
-
-
-
3Gain-
SMCHD1-
-
-
-
3Gain-
SMIM21-
-
-
-
3Gain-
SMNDC1-
-
-
-
3Gain-
SMPXp.R34Qfs*8
Frame_Shift_Ins
INS
0.351
NDND-
SMYD4p.S737G
Missense
SNP
0.516
2--
SNCG-
-
-
-
3Gain-
SND1p.R539H
Missense
SNP
0.362
2--
SNED1p.P701Rfs*4
Frame_Shift_Del
DEL
0.630
2--
SNRPA1p.P196S
Missense
SNP
0.391
2--
SNRPBp.R25W
Missense
SNP
0.622
2--
SNRPD1-
-
-
-
3Gain-
SOCS6-
-
-
-
3Gain-
SORBS1-
-
-
-
3Gain-
SORCS1-
-
-
-
3Gain-
SORCS3-
-
-
-
3Gain-
SOS1p.K1030Nfs*6
Frame_Shift_Del
DEL
0.680
2--
SPAG5p.R259C
Missense
SNP
0.516
2--
SPAG6-
-
-
-
3Gain-
SPATA13p.R896H
Missense
SNP
0.526
2--
SPATA22p.N194Tfs*30
Frame_Shift_Del
DEL
0.450
2--
SPATA31D4p.N780Kfs*6
Frame_Shift_Ins
INS
0.190
2--
SPEM1p.L287*
Frame_Shift_Del
DEL
0.412
2--
SPENp.V1907I
Missense
SNP
0.606
2--
SPHKAPp.P802S
Missense
SNP
0.438
2--
SPIRE1-
-
-
-
3Gain-
SPOCK2-
-
-
-
3Gain-
SPON2p.T209M
Missense
SNP
0.418
2--
SPRN-
-
-
-
3Gain-
SPTAN1p.R474W
Missense
SNP
0.511
2--
SPTBp.K867N
Missense
SNP
0.497
2--
SPTBN4p.C355Y
Missense
SNP
0.533
2--
SREBF1p.A1026T
Missense
SNP
0.480
2--
SRGAP3p.R585Q
Missense
SNP
0.527
2--
SRGN-
-
-
-
3Gain-
SRRM4p.R184C
Missense
SNP
0.387
2--
SS18-
-
-
-
3Gain-
SSBP3p.N49Tfs*95
Frame_Shift_Del
DEL
0.409
2--
SSRP1p.R463W
Missense
SNP
0.388
2--
SSTR1p.R336H
Missense
SNP
0.542
2--
SSTR4p.R252C
Missense
SNP
0.403
2--
SSU72p.D50N
Missense
SNP
0.547
2--
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
ST8SIA6-
-
-
-
3Gain-
STAB1p.E1712Rfs*8
Frame_Shift_Ins
INS
0.287
2--
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAT5Bp.R430H
Missense
SNP
0.539
2--
STK32C-
-
-
-
3Gain-
STK38p.F382Lfs*70
Frame_Shift_Del
DEL
0.462
2--
STMN4p.R205Q
Missense
SNP
0.577
2--
STN1-
-
-
-
3Gain-
STOX1-
-
-
-
3Gain-
STRBPp.R289*
Nonsense
SNP
0.543
2--
SUFUp.R224Q
Missense
SNP
0.294
3Gain-
SUPT5Hp.Y564H
p.R700Q
Missense
Missense
SNP
SNP
0.455
0.412
2--
SUPV3L1-
-
-
-
3Gain-
SURF2p.R28M
Missense
SNP
0.420
2--
SURF6p.R216H
Missense
SNP
0.500
2--
SUV39H2-
-
-
-
3Gain-
SVIL-
-
-
-
3Gain-
SYCE1-
-
-
-
3Gain-
SYNE1p.A1608V
Missense
SNP
0.353
2--
SYNJ1p.A1046V
Missense
SNP
0.486
2--
SYNPO2L-
-
-
-
3Gain-
SYT15-
-
-
-
3Gain-
SYT4-
-
-
-
3Gain-
TACC1p.K261Qfs*9
Frame_Shift_Ins
INS
0.297
2--
TACC2-
-
-
-
3Gain-
TACR2-
-
-
-
3Gain-
TADA2Bp.V210M
Missense
SNP
0.500
2--
TAF1Bp.S471Afs*28
Frame_Shift_Del
DEL
0.409
2--
TAF3-
-
-
-
3Gain-
TAF4p.X588_splice
Splice_Site
SNP
0.380
2--
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
3Gain-
TAOK3p.A784V
Missense
SNP
0.365
2--
TAS1R1p.L75I
p.L649P
Missense
Missense
SNP
SNP
0.534
0.522
2--
TAS1R2p.R226H
Missense
SNP
0.520
2--
TAS1R3p.L606Wfs*43
Frame_Shift_Del
DEL
0.514
2--
TBATA-
-
-
-
3Gain-
TBC1D12-
-
-
-
3Gain-
TCEAL4p.A16V
Missense
SNP
0.688
NDND-
TCERG1L-
-
-
-
3Gain-
TCF3p.R609W
Missense
SNP
0.711
2--
TCF4-
-
-
-
3Gain-
TCF7L2-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCP11L2p.L308P
Missense
SNP
0.400
2--
TCTN3-
-
-
-
3Gain-
TDRD1-
-
-
-
3Gain-
TEAD2p.H299Mfs*12
Frame_Shift_Del
DEL
0.538
2--
TECTB-
-
-
-
3Gain-
TENM2p.P2220L
Missense
SNP
0.177
2--
TET1-
-
-
-
3Gain-
TEX264p.R203W
Missense
SNP
0.405
2--
TEX36-
-
-
-
3Gain-
TFAMp.E148Sfs*2
Frame_Shift_Del
DEL
0.435
3Gain-
TFCP2p.R257Q
Missense
SNP
0.538
2--
TGIF1p.R168del
In_Frame_Del
DEL
0.146
3Gain-
TGM1p.R46C
Missense
SNP
0.586
2--
THAP8p.L116Cfs*15
Frame_Shift_Del
DEL
0.267
2--
THNSL1-
-
-
-
3Gain-
THOC1-
-
-
-
3Gain-
THSD7Bp.G987C
Missense
SNP
0.474
2--
TIAL1-
-
-
-
3Gain-
TICAM1p.A568V
Missense
SNP
0.618
2--
TICRRp.R1086*
Nonsense
SNP
0.444
2--
TIE1p.R603H
Missense
SNP
0.395
2--
TIFABp.E143D
Missense
SNP
0.585
2--
TIMM21-
-
-
-
3Gain-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
3Gain-
TKTL2p.R24Q
Missense
SNP
0.468
2--
TLDC2p.L108I
Missense
SNP
0.407
2--
TLE2p.S250Qfs*30
Frame_Shift_Ins
INS
0.333
2--
TLL2-
-
-
-
3Gain-
TLN2p.V1160M
p.E2318K
Missense
Missense
SNP
SNP
0.452
0.500
2--
TLX1-
-
-
-
3Gain-
TM6SF2p.A201T
p.A107V
Missense
Missense
SNP
SNP
0.673
0.603
2--
TM9SF3-
-
-
-
3Gain-
TMED3p.V153I
Missense
SNP
0.575
2--
TMEM131p.D1577G
Missense
SNP
0.597
2--
TMEM155p.S121Ifs*44
Frame_Shift_Del
DEL
0.348
2--
TMEM168p.R258C
Missense
SNP
0.510
2--
TMEM169p.T164M
Missense
SNP
0.525
2--
TMEM181p.F186L
Missense
SNP
0.467
2--
TMEM200Cp.P21Qfs*22
Frame_Shift_Del
DEL
0.293
3Gain-
TMEM231p.S275N
Missense
SNP
0.529
2--
TMEM236-
-
-
-
3Gain-
TMEM239p.G136S
Missense
SNP
0.521
2--
TMEM241-
-
-
-
3Gain-
TMEM254-
-
-
-
3Gain-
TMEM26-
-
-
-
3Gain-
TMEM273-
-
-
-
3Gain-
TMEM72-
-
-
-
3Gain-
TMEM92p.Y120Tfs*4
Frame_Shift_Del
DEL
0.531
2--
TMTC2p.Q829Tfs*7
Frame_Shift_Ins
INS
0.310
2--
TMTC4p.A463T
Missense
SNP
0.346
2--
TMX3-
-
-
-
3Gain-
TNFRSF11Ap.P432L
Missense
SNP
0.637
3Gain-
TNK2p.P711Afs*4
Frame_Shift_Ins
INS
0.183
2--
TNKS2-
-
-
-
3Gain-
TNRC18p.A832P
Missense
SNP
0.611
2--
TNRC6Cp.N615Mfs*45
Frame_Shift_Del
DEL
0.491
2--
TNS1p.R1198Q
Missense
SNP
0.667
2--
TPGS2-
-
-
-
3Gain-
TRAF2p.R486W
Missense
SNP
0.532
2--
TRAPPC8-
-
-
-
3Gain-
TRDMT1-
-
-
-
3Gain-
TRIM28p.R470W
Missense
SNP
0.508
2--
TRIM3p.S74L
Missense
SNP
0.500
2--
TRIM36p.R44H
Missense
SNP
0.500
2--
TRIM8-
-
-
-
3Gain-
TRIOp.R558C
p.L1071P
Missense
Missense
SNP
SNP
0.574
0.500
2--
TRIOBPp.R2039W
Missense
SNP
0.462
2--
TRIP12p.X378_splice
Splice_Site
SNP
0.364
2--
TRMT5p.R432W
Missense
SNP
0.440
2--
TRPM2p.A1278T
Missense
SNP
0.455
2--
TRPM3p.T944M
Missense
SNP
0.310
2--
TRUB1p.K319Nfs*11
Frame_Shift_Del
DEL
0.357
3Gain-
TSHZ1-
-
-
-
3Gain-
TSPAN14-
-
-
-
3Gain-
TSPAN15-
-
-
-
3Gain-
TSPEARp.R67Afs*3
Frame_Shift_Del
DEL
0.400
2--
TSR3p.A294Lfs*28
Frame_Shift_Del
DEL
0.391
2--
TTC13p.L380P
Missense
SNP
0.565
2--
TTC14p.R459C
Missense
SNP
0.412
2--
TTC16p.R86H
Missense
SNP
0.469
2--
TTC30Ap.M601Dfs*5
Frame_Shift_Del
DEL
0.418
2--
TTC37p.Y827*
Nonsense
SNP
0.583
2--
TTC39Cp.A444V
Missense
SNP
0.562
3Gain-
TTC6p.L540Sfs*19
p.R923H
Frame_Shift_Del
Missense
DEL
SNP
0.361
0.517
2--
TTNp.R13727H
p.G5061S
Missense
Missense
SNP
SNP
0.458
0.455
2--
TTR-
-
-
-
3Gain-
TUBA3Cp.T361Rfs*18
Frame_Shift_Del
DEL
0.362
2--
TUBAL3-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
3Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP4p.R502H
Missense
SNP
0.571
2--
TUBGCP6p.P1371H
p.R793C
Missense
Missense
SNP
SNP
0.479
0.444
2--
TVP23Ap.F140Lfs*7
Frame_Shift_Del
DEL
0.450
2--
TWNK-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4Ap.G128S
Missense
SNP
0.237
3Gain-
TYMS-
-
-
-
3Gain-
TYSND1-
-
-
-
3Gain-
TYW1p.W154*
Nonsense
SNP
0.469
2--
UBA2p.A380T
Missense
SNP
0.364
2--
UBE2D1-
-
-
-
3Gain-
UBR4p.R142*
Nonsense
SNP
0.527
2--
UBTD1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UGT1A8p.P264T
Missense
SNP
0.494
2--
UNC13Ap.R1566W
p.R39W
Missense
Missense
SNP
SNP
0.548
0.469
2--
UNC5B-
-
-
-
3Gain-
UNC79p.G668Dfs*34
Frame_Shift_Del
DEL
0.466
2--
UNKp.R123H
Missense
SNP
0.471
2--
UPF2-
-
-
-
3Gain-
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.976
2--
UROSp.F196Lfs*44
Frame_Shift_Del
DEL
0.350
3Gain-
USH2Ap.R310Q
Missense
SNP
0.500
2--
USP1p.N662Mfs*2
Frame_Shift_Del
DEL
0.343
2--
USP14-
-
-
-
3Gain-
USP2p.X413_splice
Splice_Site
INS
0.331
2--
USP32p.K274M
Missense
SNP
0.380
2--
USP40p.Q1160Tfs*20
Frame_Shift_Ins
INS
0.208
2--
USP49p.R190C
Missense
SNP
0.316
2--
USP54-
-
-
-
3Gain-
USP6NLp.P825Rfs*24
Frame_Shift_Del
DEL
0.133
3Gain-
USP9Xp.E2102K
Missense
SNP
0.483
NDND-
UTF1-
-
-
-
3Gain-
UTP15p.L425*
Frame_Shift_Del
DEL
0.378
2--
VAPA-
-
-
-
3Gain-
VAX1-
-
-
-
3Gain-
VCANp.W1619*
Nonsense
SNP
0.436
2--
VCL-
-
-
-
3Gain-
VCPp.N616Cfs*11
Frame_Shift_Del
DEL
0.500
2--
VDAC2-
-
-
-
3Gain-
VENTX-
-
-
-
3Gain-
VEZF1p.V470I
Missense
SNP
0.579
2--
VGFp.P226R
Missense
SNP
0.481
2--
VIM-
-
-
-
3Gain-
VPS13Ap.I1709Nfs*6
p.R161H
Frame_Shift_Ins
Missense
INS
SNP
0.309
0.800
2--
VPS13Dp.R72H
Missense
SNP
0.404
2--
VPS16p.R321H
Missense
SNP
0.548
2--
VPS18p.A889V
Missense
SNP
0.557
2--
VPS26A-
-
-
-
3Gain-
VPS35p.S179Y
Missense
SNP
0.606
2--
VPS4B-
-
-
-
3Gain-
VPS51p.V609M
Missense
SNP
0.588
2--
VPS8p.Q877H
Missense
SNP
0.575
2--
VSIG4p.A371T
Missense
SNP
0.408
NDND-
VSIR-
-
-
-
3Gain-
VSTM4-
-
-
-
3Gain-
VSX2p.A52V
Missense
SNP
0.421
2--
VTI1A-
-
-
-
3Gain-
VWA2-
-
-
-
3Gain-
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
3Gain-
WASHC2A-
-
-
-
3Gain-
WASHC2C-
-
-
-
3Gain-
WBP11p.G521Wfs*28
Frame_Shift_Ins
INS
0.352
2--
WBP1L-
-
-
-
3Gain-
WDFY4-
-
-
-
3Gain-
WDR11-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR44p.X425_splice
Splice_Site
SNP
0.456
NDND-
WDR47p.V693I
Missense
SNP
0.389
2--
WDR7-
-
-
-
3Gain-
WDTC1p.E290Tfs*6
p.V621M
Frame_Shift_Del
Missense
DEL
SNP
0.480
0.524
2--
WFDC3p.R66*
Nonsense
SNP
0.538
2--
WISP1p.R161C
Missense
SNP
0.548
2--
WISP3p.K226Nfs*24
Frame_Shift_Del
DEL
0.524
2--
WIZp.R234W
Missense
SNP
0.442
2--
WNK1p.P743T
Missense
SNP
0.441
2--
WNK3p.S649P
p.A403S
Missense
Missense
SNP
SNP
0.500
0.483
NDND-
WNT2p.S95N
Missense
SNP
0.588
2--
WNT4p.K107Q
Missense
SNP
0.473
2--
WNT6p.D289N
Missense
SNP
0.614
2--
WNT8B-
-
-
-
3Gain-
WSCD1p.R76Q
Missense
SNP
0.450
2--
WWC2p.M206Cfs*17
p.R380Q
Frame_Shift_Del
Missense
DEL
SNP
0.600
0.578
2--
XIRP2p.N1589T
Missense
SNP
0.431
2--
XPNPEP1-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YLPM1p.G1063D
Missense
SNP
0.345
2--
YME1L1-
-
-
-
3Gain-
ZADH2-
-
-
-
3Gain-
ZBTB1p.K524Sfs*25
Frame_Shift_Del
DEL
0.523
2--
ZBTB14p.R30H
Missense
SNP
0.360
3Gain-
ZBTB38p.R917C
Missense
SNP
0.516
2--
ZBTB46p.G517D
Missense
SNP
0.464
2--
ZBTB7Ap.A559V
Missense
SNP
0.622
2--
ZBTB7C-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZCCHC24-
-
-
-
3Gain-
ZCRB1p.K140Rfs*13
Frame_Shift_Del
DEL
0.533
2--
ZDHHC16-
-
-
-
3Gain-
ZDHHC18p.P367L
Missense
SNP
0.417
2--
ZDHHC5p.L657S
Missense
SNP
0.477
2--
ZDHHC6-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFHX4p.L411Cfs*4
Frame_Shift_Del
DEL
0.537
2--
ZFP36L2p.A229Rfs*245
p.G144Afs*43
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.315
0.406
2--
ZFPM1p.G184Dfs*3
Frame_Shift_Del
DEL
0.444
2--
ZFYVE27-
-
-
-
3Gain-
ZKSCAN1p.G156R
Missense
SNP
0.523
2--
ZKSCAN2p.A166V
Missense
SNP
0.353
2--
ZKSCAN7p.K689Nfs*79
Frame_Shift_Del
DEL
0.375
2--
ZMIZ1-
-
-
-
3Gain-
ZMYM3p.L85Afs*4
p.P48Lfs*65
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.329
0.491
NDND-
ZMYM6p.N724Mfs*15
Frame_Shift_Del
DEL
0.432
2--
ZMYND11-
-
-
-
3Gain-
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.582
2--
ZNF100-
-
-
-
3Gain-
ZNF134p.E208K
Missense
SNP
0.300
2--
ZNF157p.K53N
Missense
SNP
0.617
NDND-
ZNF205p.A493V
Missense
SNP
0.492
2--
ZNF208-
-
-
-
3Gain-
ZNF213p.W228C
Missense
SNP
0.345
2--
ZNF22-
-
-
-
3Gain-
ZNF234p.K538Nfs*44
Frame_Shift_Del
DEL
0.386
2--
ZNF236-
-
-
-
3Gain-
ZNF239-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF254-
-
-
-
3Gain-
ZNF257-
-
-
-
3Gain-
ZNF3p.T99Rfs*4
Frame_Shift_Del
DEL
0.592
2--
ZNF32-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
3Gain-
ZNF347p.G632V
Missense
SNP
0.412
2--
ZNF365-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF384p.P517S
Missense
SNP
0.486
2--
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF407-
-
-
-
3Gain-
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF430-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF433p.K481N
Missense
SNP
0.544
2--
ZNF438-
-
-
-
3Gain-
ZNF441p.P418S
Missense
SNP
0.342
2--
ZNF460p.P447L
Missense
SNP
0.500
2--
ZNF467p.A579T
Missense
SNP
0.340
2--
ZNF485-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF492p.D89G
Missense
SNP
0.437
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF503-
-
-
-
3Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF516-
-
-
-
3Gain-
ZNF518A-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF532p.R421Gfs*9
Frame_Shift_Del
DEL
0.531
3Gain-
ZNF552p.S172N
Missense
SNP
0.478
2--
ZNF567p.H253Tfs*5
Frame_Shift_Ins
INS
0.333
2--
ZNF570p.T562Nfs*37
Frame_Shift_Ins
INS
0.202
2--
ZNF615p.G361R
Missense
SNP
0.519
2--
ZNF616p.T209Rfs*8
Frame_Shift_Del
DEL
0.564
2--
ZNF626-
-
-
-
3Gain-
ZNF66-
-
-
-
3Gain-
ZNF675-
-
-
-
3Gain-
ZNF676-
-
-
-
3Gain-
ZNF681-
-
-
-
3Gain-
ZNF687p.E930del
In_Frame_Del
DEL
0.407
2--
ZNF703p.A472T
Missense
SNP
0.600
2--
ZNF708-
-
-
-
3Gain-
ZNF71p.R107H
Missense
SNP
0.463
2--
ZNF710p.R386C
Missense
SNP
0.526
2--
ZNF714-
-
-
-
3Gain-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
3Gain-
ZNF728-
-
-
-
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF737-
-
-
-
3Gain-
ZNF738-
-
-
-
3Gain-
ZNF74p.K442M
p.A447T
Missense
Missense
SNP
SNP
0.528
0.514
2--
ZNF777p.R566C
Missense
SNP
0.423
2--
ZNF786p.R377C
Missense
SNP
0.439
2--
ZNF792p.T222I
Missense
SNP
0.390
2--
ZNF813p.S108N
Missense
SNP
0.536
2--
ZNF814p.K350Nfs*121
Frame_Shift_Del
DEL
0.364
2--
ZNF85-
-
-
-
3Gain-
ZNF865p.A462T
p.S672L
Missense
Missense
SNP
SNP
0.710
0.639
2--
ZNF880p.A332T
Missense
SNP
0.397
2--
ZNF91-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZRANB1-
-
-
-
3Gain-
ZSCAN30-
-
-
-
3Gain-
ZSWIM4p.R679Q
Missense
SNP
0.420
2--
ZSWIM8-
-
-
-
3Gain-
ZWINT-
-
-
-
3Gain-