PDMR-825966~067-R~U7A-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2Mp.Y1197Tfs*12
Frame_Shift_Del
DEL
0.426
2--
A2ML1p.Y1438C
Missense
SNP
0.645
2--
A4GNTp.F23L
Missense
SNP
0.398
2--
AARD-
-
-
-
3Gain-
ABCA1-
-
-
-
3Gain-
ABCA10p.X1512_splice
Splice_Site
SNP
0.550
2--
ABCA13p.L4357V
Missense
SNP
0.447
2--
ABCA2-
-
-
-
3Gain-
ABCA4p.G1803C
Missense
SNP
0.431
2--
ABCA7p.R825W
Missense
SNP
0.462
2--
ABCB11p.G1011V
Missense
SNP
0.405
2--
ABCB4p.A531Pfs*27
Frame_Shift_Del
DEL
0.425
2--
ABCC12p.S494*
Nonsense
SNP
0.520
2--
ABCF1p.T40Rfs*8
Frame_Shift_Del
DEL
0.478
2--
ABHD16Bp.V282A
Missense
SNP
0.429
2--
ABHD17Ap.C191R
Missense
SNP
0.527
2--
ABHD17B-
-
-
-
3Gain-
ABHD18p.L342*
Frame_Shift_Del
DEL
0.444
2--
ABL1p.I422Hfs*42
Frame_Shift_Ins
INS
0.334
3Gain-
ABO-
-
-
-
3Gain-
AC004754.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
ACER2-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACP1p.A45T
Missense
SNP
0.449
2--
ACTG2p.R29Gfs*16
Frame_Shift_Del
DEL
0.455
2--
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTN1p.D2Y
Missense
SNP
0.377
2--
ACTRT2p.S159N
Missense
SNP
0.521
2--
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.916
2--
ACY3p.P260S
Missense
SNP
0.451
2--
ADAM11p.F146S
Missense
SNP
0.481
2--
ADAM19p.X437_splice
Splice_Site
SNP
0.400
2--
ADAM21p.L684Cfs*3
Frame_Shift_Del
DEL
0.634
2--
ADAM33p.H128Pfs*34
Frame_Shift_Ins
INS
0.308
2--
ADAMTS12p.H928Y
Missense
SNP
0.690
2--
ADAMTS13-
-
-
-
3Gain-
ADAMTS16p.H380R
Missense
SNP
0.402
2--
ADAMTS19p.N949Kfs*8
Frame_Shift_Ins
INS
0.336
2--
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL2p.P562H
Missense
SNP
0.244
3Gain-
ADAMTSL3p.R1291I
Missense
SNP
0.505
2--
ADCK5-
-
-
-
3Gain-
ADCY1p.R835C
Missense
SNP
0.493
2--
ADCY2p.R30Q
p.A694V
Missense
Missense
SNP
SNP
0.432
0.622
2--
ADCY8-
-
-
-
3Gain-
ADGRB1p.E1549G
Missense
SNP
0.626
3Gain-
ADGRD2-
-
-
-
3Gain-
ADGRL1p.V292M
Missense
SNP
0.404
2--
ADGRV1p.Q1275H
Missense
SNP
0.500
2--
ADNP2p.G966Vfs*3
Frame_Shift_Del
DEL
0.970
2--
ADORA2Ap.A265S
Missense
SNP
0.518
2--
AFAP1L2p.A574T
Missense
SNP
0.436
2--
AGBL5p.K423Qfs*28
Frame_Shift_Ins
INS
0.346
2--
AGKp.P57S
Missense
SNP
0.427
2--
AGO2-
-
-
-
3Gain-
AGPAT2-
-
-
-
3Gain-
AGTp.T20N
Missense
SNP
0.604
2--
AGTPBP1-
-
-
-
3Gain-
AGTR2p.F134Lfs*5
Frame_Shift_Del
DEL
0.932
NDND-
AIF1L-
-
-
-
3Gain-
AIFM1p.G103W
Missense
SNP
1.000
NDND-
AIM1p.R1310*
Nonsense
SNP
0.595
NDND-
AIM1Lp.G1484Afs*27
Frame_Shift_Del
DEL
0.524
NDND-
AJM1-
-
-
-
3Gain-
AK1-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK8-
-
-
-
3Gain-
AK9p.R1209Gfs*39
Frame_Shift_Del
DEL
0.571
2--
AKAP12p.T949Rfs*23
Frame_Shift_Del
DEL
0.176
2--
AKAP2-
-
-
-
3Gain-
AKAP7p.G186del
In_Frame_Del
DEL
0.350
2--
AKNAp.G792Efs*49
Frame_Shift_Del
DEL
0.505
3Gain-
AKR1B1p.R269H
Missense
SNP
0.433
2--
AKR1E2p.S226P
Missense
SNP
0.294
2--
AKR7A3p.A301T
Missense
SNP
0.644
2--
AKT3p.R220H
Missense
SNP
0.490
2--
AL133410.3-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162417.1-
-
-
-
3Gain-
AL355987.1-
-
-
-
3Gain-
AL355987.3-
-
-
-
3Gain-
AL358113.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL672142.1-
-
-
-
3Gain-
AL807752.6-
-
-
-
3Gain-
AL807752.7-
-
-
-
3Gain-
AL929554.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALAS1p.R465W
Missense
SNP
0.513
2--
ALDH1A1-
-
-
-
3Gain-
ALDH1A3p.R93W
Missense
SNP
0.478
2--
ALDH1B1-
-
-
-
3Gain-
ALDOB-
-
-
-
3Gain-
ALG11p.Y18Ifs*35
p.G421Afs*14
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.450
0.430
2--
ALG2-
-
-
-
3Gain-
ALKBH1p.T266Rfs*11
Frame_Shift_Del
DEL
0.336
2--
ALKBH8p.K602T
Missense
SNP
0.609
2--
ALOX5p.M460I
Missense
SNP
0.524
2--
ALPK3p.K970Nfs*12
Frame_Shift_Del
DEL
0.451
2--
ALS2p.L625*
Frame_Shift_Del
DEL
0.436
2--
AMBP-
-
-
-
3Gain-
AMZ1p.I160M
Missense
SNP
0.397
2--
ANAPC2-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANKARp.A1274D
Missense
SNP
0.396
2--
ANKEF1p.M260V
Missense
SNP
0.411
2--
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD23p.K58del
In_Frame_Del
DEL
0.400
2--
ANKRD27p.I94T
Missense
SNP
0.472
2--
ANKRD49p.M70Wfs*32
Frame_Shift_Del
DEL
0.450
2--
ANKRD52p.L708del
p.T756M
In_Frame_Del
Missense
DEL
SNP
0.277
0.530
2--
ANKRD53p.S422G
Missense
SNP
0.427
2--
ANKS6-
-
-
-
3Gain-
ANKZF1p.P353H
Missense
SNP
0.630
2--
ANO2p.P131L
Missense
SNP
0.467
2--
ANO5p.D157V
Missense
SNP
0.512
2--
ANO8p.T643A
Missense
SNP
0.452
2--
ANP32B-
-
-
-
3Gain-
ANXA1-
-
-
-
3Gain-
ANXA13-
-
-
-
3Gain-
ANXA2p.Y42H
Missense
SNP
0.524
2--
AOAHp.S155I
Missense
SNP
0.539
2--
AOC3p.C41R
Missense
SNP
0.371
2--
AP2B1p.A785V
Missense
SNP
0.390
2--
AP3B1-
-
-
-
1Loss-
AP3M2p.L323P
Missense
SNP
0.447
2--
APBA1-
-
-
-
3Gain-
APBA2p.P630A
Missense
SNP
0.467
2--
APC2p.L1016Pfs*74
Frame_Shift_Ins
INS
0.289
2--
APOEp.V65A
Missense
SNP
0.286
2--
APTX-
-
-
-
3Gain-
AQP1p.M96I
Missense
SNP
0.528
2--
AQP3-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
ARC-
-
-
-
3Gain-
AREGp.C252Vfs*31
Frame_Shift_Del
DEL
0.609
2--
ARFGEF3p.E1459D
Missense
SNP
0.564
2--
ARGLU1p.R141Gfs*61
Frame_Shift_Del
DEL
0.423
2--
ARHGAP1p.L237Cfs*135
Frame_Shift_Del
DEL
0.402
2--
ARHGAP15p.Q382R
Missense
SNP
0.469
2--
ARHGAP22p.S698Rfs*3
Frame_Shift_Del
DEL
0.117
2--
ARHGAP29p.S882A
Missense
SNP
0.557
2--
ARHGAP30p.A675T
Missense
SNP
0.428
2--
ARHGAP39-
-
-
-
3Gain-
ARHGAP44p.R483C
Missense
SNP
0.541
2--
ARHGDIG-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARID1Ap.L1176Ifs*17
p.D1850Tfs*33
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.301
0.488
2--
ARID3C-
-
-
-
3Gain-
ARMS2-
-
-
-
1Loss-
ARPC5L-
-
-
-
3Gain-
ARRB2p.P90Rfs*17
Frame_Shift_Del
DEL
0.307
2--
ARRDC1-
-
-
-
3Gain-
ARSDp.Q117R
Missense
SNP
1.000
NDND-
ARTNp.E46D
Missense
SNP
0.435
2--
ASAP1-
-
-
-
3Gain-
ASAP2p.Q818*
Nonsense
SNP
0.503
2--
ASB6-
-
-
-
3Gain-
ASCC3p.F163Lfs*5
p.R1762C
Frame_Shift_Del
Missense
DEL
SNP
0.400
0.627
2--
ASCL4p.V143A
Missense
SNP
0.506
2--
ASPN-
-
-
-
3Gain-
ASS1-
-
-
-
3Gain-
ASTN2-
-
-
-
3Gain-
ASXL2p.M590V
Missense
SNP
0.518
2--
ATAD2-
-
-
-
3Gain-
ATF5p.P131L
Missense
SNP
0.600
2--
ATG2Bp.G1924V
p.S379F
Missense
Missense
SNP
SNP
0.362
0.536
2--
ATHL1p.P185Qfs*3
Frame_Shift_Del
DEL
0.388
NDND-
ATP10Ap.X283_splice
Splice_Site
SNP
0.400
2--
ATP12Ap.R496C
Missense
SNP
0.364
2--
ATP2A3p.A374V
Missense
SNP
0.508
2--
ATP2C2p.V810A
Missense
SNP
0.509
2--
ATP6AP1Lp.G133Dfs*18
Frame_Shift_Del
DEL
0.425
2--
ATP6V1C1p.D49Y
Missense
SNP
0.435
2--
ATP6V1G1-
-
-
-
3Gain-
ATP7Bp.X1341_splice
Splice_Site
SNP
0.568
2--
ATP8B1p.N205Kfs*2
Frame_Shift_Ins
INS
0.425
2--
ATXN1p.F651Lfs*40
Frame_Shift_Del
DEL
0.588
2--
ATXN8OS-
-
-
-
NDNDATXN8OS--RPL14P1
AUH-
-
-
-
3Gain-
AUTS2p.V97A
Missense
SNP
0.441
2--
AXDND1p.E994Q
Missense
SNP
0.482
2--
AXIN1p.V835Wfs*103
Frame_Shift_Del
DEL
0.897
1Loss-
AXIN2p.R671Afs*18
Frame_Shift_Del
DEL
0.241
2--
B3GLCTp.S80Afs*3
Frame_Shift_Del
DEL
0.492
2--
B4GALNT4p.R307Vfs*100
Frame_Shift_Del
DEL
0.500
2--
B4GALT1-
-
-
-
3Gain-
BAAT-
-
-
-
3Gain-
BAG1-
-
-
-
3Gain-
BAHCC1p.A553V
p.L2483R
Missense
Missense
SNP
SNP
0.457
0.560
2--
BAHD1p.R678H
Missense
SNP
0.450
2--
BARHL1-
-
-
-
3Gain-
BARX1-
-
-
-
3Gain-
BAXp.E41Gfs*20
Frame_Shift_Ins
INS
0.228
2--
BAZ1Ap.L1455*
Frame_Shift_Del
DEL
0.497
2--
BCL11Ap.S767N
p.Q371R
Missense
Missense
SNP
SNP
0.432
0.451
2--
BCL6Bp.Y275Lfs*16
Frame_Shift_Ins
INS
0.343
2--
BCL9p.G1278D
Missense
SNP
0.559
2--
BCL9Lp.P1128Tfs*42
Frame_Shift_Ins
INS
0.190
2--
BEAN1p.H77R
Missense
SNP
0.390
2--
BICD1p.T93M
Missense
SNP
0.385
2--
BICD2-
-
-
-
3Gain-
BLMp.K1217Nfs*62
Frame_Shift_Del
DEL
0.441
2--
BMPR2p.K457Nfs*17
p.N583Tfs*44
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.640
0.455
2--
BNC2p.R351W
Missense
SNP
0.374
3Gain-
BNIP1p.F76Lfs*3
Frame_Shift_Del
DEL
0.286
2--
BOP1p.N634del
In_Frame_Del
DEL
0.309
3Gain-
BPIFB4p.P73Qfs*160
Frame_Shift_Del
DEL
0.919
2--
BRAFp.V600E
Missense
SNP
0.185
2--
BRAPp.D523Ifs*79
Frame_Shift_Del
DEL
0.503
2--
BRCA2p.V1862*
Frame_Shift_Del
DEL
0.500
2--
BRD2p.L357*
Frame_Shift_Del
DEL
0.503
2--
BRD3-
-
-
-
3Gain-
BRF1p.S553R
Missense
SNP
0.520
2--
BRINP1-
-
-
-
3Gain-
BRIX1p.I64T
Missense
SNP
0.308
2--
BRWD1p.T1816Pfs*4
p.K2148T
Frame_Shift_Del
Missense
DEL
SNP
0.456
0.492
2--
BRWD3p.R1707Efs*12
Frame_Shift_Ins
INS
0.466
NDND-
BSCL2p.G325Afs*75
Frame_Shift_Del
DEL
0.516
2--
BSDC1p.G94W
Missense
SNP
0.257
2--
BSNp.R489S
Missense
SNP
0.537
2--
BSPRY-
-
-
-
3Gain-
BTBD16-
-
-
-
1Loss-
BTBD7p.N566Mfs*22
p.Y324Ifs*22
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.463
0.350
2--
BUB1p.A714V
Missense
SNP
0.421
2--
BVESp.L228Ffs*20
Frame_Shift_Ins
INS
0.417
2--
C11orf57p.K161Sfs*20
Frame_Shift_Del
DEL
0.444
NDND-
C12orf66p.A248V
Missense
SNP
0.535
2--
C14orf159p.X482_splice
Splice_Site
SNP
0.562
NDND-
C16orf62p.X876_splice
Splice_Site
SNP
0.567
NDND-
C17orf75p.L155*
Frame_Shift_Del
DEL
0.444
2--
C17orf97p.D238N
Missense
SNP
0.480
2--
C19orf68p.R318H
Missense
SNP
0.310
NDND-
C19orf70p.A73Pfs*39
Frame_Shift_Del
DEL
0.417
2--
C1orf141p.D10A
Missense
SNP
0.511
2--
C1orf43p.D83del
In_Frame_Del
DEL
0.451
2--
C21orf59p.G180V
Missense
SNP
0.488
NDND-
C22orf31p.Q117R
Missense
SNP
0.435
2--
C2orf42p.K410Nfs*38
Frame_Shift_Del
DEL
0.391
2--
C2orf71p.R1047*
Nonsense
SNP
0.700
NDND-
C2orf78p.A474V
Missense
SNP
0.466
2--
C5-
-
-
-
3Gain-
C6orf132p.P277Rfs*240
Frame_Shift_Del
DEL
0.453
2--
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.270
2--
C8G-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C9orf116-
-
-
-
3Gain-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1p.D265N
Missense
SNP
0.314
3Gain-
CACFD1-
-
-
-
3Gain-
CACNA1Ap.L343Sfs*10
Frame_Shift_Del
DEL
0.324
2--
CACNA1Bp.F1309Sfs*48
Frame_Shift_Del
DEL
0.277
3Gain-
CACNA1Cp.Q1069R
p.G2071V
Missense
Missense
SNP
SNP
0.623
0.460
2--
CACNA1Dp.L1536M
Missense
SNP
0.371
2--
CACNA1Fp.C1151Y
Missense
SNP
1.000
NDND-
CACNA1Gp.G2232Wfs*33
p.V96M
Frame_Shift_Ins
Missense
INS
SNP
0.298
0.509
2--
CACNA1Ip.H1091Mfs*43
Frame_Shift_Del
DEL
0.406
2--
CALHM2p.T32A
Missense
SNP
0.504
2--
CALYp.D167Y
Missense
SNP
0.481
2--
CAMSAP1-
-
-
-
3Gain-
CAMTA1p.K1589Nfs*33
p.A810V
Frame_Shift_Del
Missense
DEL
SNP
0.390
0.410
2--
CAPN3p.G308C
Missense
SNP
0.525
2--
CAPN9p.Q27K
Missense
SNP
0.380
2--
CAPSp.M90Cfs*24
Frame_Shift_Del
DEL
0.444
2--
CAPZBp.R44C
Missense
SNP
0.394
2--
CARD11p.Q288H
Missense
SNP
0.425
2--
CARD19-
-
-
-
3Gain-
CARD9-
-
-
-
3Gain-
CARFp.T716Lfs*25
Frame_Shift_Del
DEL
0.569
2--
CARMIL3p.E269K
Missense
SNP
0.459
2--
CARNMT1-
-
-
-
3Gain-
CASZ1p.A806T
Missense
SNP
0.534
2--
CAVIN4-
-
-
-
3Gain-
CBLp.P828L
Missense
SNP
0.452
2--
CBLBp.R412H
Missense
SNP
0.500
2--
CBLCp.L230P
Missense
SNP
0.404
2--
CBWD1-
-
-
-
3Gain-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX4p.X83_splice
Splice_Site
SNP
0.527
2--
CC2D1Ap.G303Vfs*131
p.M884T
Frame_Shift_Del
Missense
DEL
SNP
0.511
0.637
2--
CCDC107-
-
-
-
3Gain-
CCDC166-
-
-
-
3Gain-
CCDC168p.F7017Lfs*25
Frame_Shift_Del
DEL
0.888
2--
CCDC171-
-
-
-
3Gain-
CCDC180p.Q1564R
Missense
SNP
0.157
3Gain-
CCDC183-
-
-
-
3Gain-
CCDC88Bp.X1311_splice
Splice_Site
SNP
0.484
2--
CCDC93p.K571E
p.Q415L
Missense
Missense
SNP
SNP
0.421
0.500
2--
CCIN-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCNHp.A216V
Missense
SNP
0.667
2--
CCSER2p.S985Qfs*14
Frame_Shift_Del
DEL
0.512
2--
CCT2p.X526_splice
Splice_Site
SNP
0.548
2--
CD163L1p.I886Hfs*35
Frame_Shift_Ins
INS
0.327
2--
CD180p.L58Wfs*20
Frame_Shift_Del
DEL
0.267
2--
CD1Dp.Y262H
Missense
SNP
0.471
2--
CD200p.R201W
Missense
SNP
0.566
2--
CD274-
-
-
-
3Gain-
CD40p.I204F
Missense
SNP
0.441
2--
CD58p.R80M
Missense
SNP
0.533
2--
CD72-
-
-
-
3Gain-
CD79Ap.K141N
Missense
SNP
0.451
2--
CD82p.V100M
Missense
SNP
0.567
2--
CD93p.E121Rfs*79
Frame_Shift_Del
DEL
0.659
2--
CDADC1p.E204G
Missense
SNP
0.547
2--
CDC14B-
-
-
-
3Gain-
CDC26-
-
-
-
3Gain-
CDC37L1-
-
-
-
3Gain-
CDC42BPGp.L498P
Missense
SNP
0.441
2--
CDH22p.G625S
Missense
SNP
0.523
2--
CDH23p.T997M
Missense
SNP
0.477
2--
CDHR2p.D54E
Missense
SNP
0.381
2--
CDK12p.P565H
Missense
SNP
0.442
2--
CDK20-
-
-
-
3Gain-
CDK5R1p.S122Lfs*29
Frame_Shift_Ins
INS
0.328
2--
CDK5RAP2p.K471Nfs*8
Frame_Shift_Del
DEL
0.178
3Gain-
CDK9-
-
-
-
3Gain-
CDKN1Ap.T55A
Missense
SNP
0.439
2--
CDKN2A-
-
-
-
3Gain-
CDKN2B-
-
-
-
3Gain-
CDNFp.K115R
Missense
SNP
0.490
2--
CDPF1p.N33Tfs*14
Frame_Shift_Del
DEL
0.416
2--
CECR2p.N658Qfs*5
Frame_Shift_Ins
INS
0.309
2--
CECR6p.A288S
Missense
SNP
0.421
NDND-
CELp.V607Rfs*6
Frame_Shift_Ins
INS
0.193
3Gain-
CELF2p.A272V
Missense
SNP
0.510
2--
CELF4p.Y102H
Missense
SNP
0.548
2--
CELSR1p.E2221A
Missense
SNP
0.460
2--
CEMIP2-
-
-
-
3Gain-
CENPP-
-
-
-
3Gain-
CEP112p.Q899R
Missense
SNP
0.433
2--
CEP162p.F406Lfs*8
Frame_Shift_Del
DEL
0.500
2--
CEP78-
-
-
-
3Gain-
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
3Gain-
CERS3p.A103S
Missense
SNP
0.438
2--
CES2p.T296M
Missense
SNP
0.472
2--
CFAP157-
-
-
-
3Gain-
CFAP206p.N477Ifs*4
Frame_Shift_Del
DEL
0.517
2--
CFAP77-
-
-
-
3Gain-
CFHR5p.R385Gfs*17
Frame_Shift_Del
DEL
0.286
2--
CHD3p.E1711Gfs*30
Frame_Shift_Ins
INS
0.320
2--
CHD6p.E1346D
Missense
SNP
0.490
2--
CHFRp.R639Pfs*2
p.P535Rfs*16
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.314
0.464
2--
CHMP5-
-
-
-
3Gain-
CHPT1p.F162Sfs*23
Frame_Shift_Del
DEL
0.428
2--
CHRAC1-
-
-
-
3Gain-
CICp.T1568A
Missense
SNP
0.368
2--
CIITAp.F119Sfs*2
Frame_Shift_Del
DEL
0.548
2--
CIZ1-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLEC3Ap.E201K
Missense
SNP
0.719
2--
CLIC3p.G105S
Missense
SNP
0.291
3Gain-
CLOCKp.L123*
Frame_Shift_Del
DEL
0.227
2--
CLPPp.A10Gfs*65
Frame_Shift_Ins
INS
0.329
2--
CLRN1p.P31S
Missense
SNP
0.463
2--
CLTA-
-
-
-
3Gain-
CMYA5p.S781*
Nonsense
SNP
0.403
2--
CNNM1p.A2V
Missense
SNP
0.464
2--
CNTFR-
-
-
-
3Gain-
CNTLNp.A72Gfs*51
Frame_Shift_Ins
INS
0.225
3Gain-
CNTN6p.K418Sfs*63
p.A908E
Frame_Shift_Del
Missense
DEL
SNP
0.475
0.448
2--
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
CNTROBp.S45R
Missense
SNP
0.599
2--
COG1p.E726A
Missense
SNP
0.448
2--
COL11A1p.P474Qfs*20
Frame_Shift_Del
DEL
0.467
2--
COL12A1p.H2649Tfs*6
Frame_Shift_Del
DEL
0.562
2--
COL13A1p.E543Rfs*51
Frame_Shift_Del
DEL
0.469
2--
COL14A1-
-
-
-
3Gain-
COL15A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL27A1-
-
-
-
3Gain-
COL4A4p.G737E
Missense
SNP
0.436
2--
COL4A6p.T1623I
Missense
SNP
1.000
NDND-
COL5A1-
-
-
-
3Gain-
COL6A5p.F1867Lfs*50
Frame_Shift_Del
DEL
0.492
2--
COL7A1p.G2251W
Missense
SNP
0.518
2--
COL8A1p.G672Afs*14
Frame_Shift_Del
DEL
0.444
2--
COL9A3p.A542V
Missense
SNP
0.316
2--
COLEC10-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COPEp.V189Sfs*55
Frame_Shift_Del
DEL
0.613
2--
COQ10Bp.S183Qfs*23
Frame_Shift_Del
DEL
0.426
2--
COQ4-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
CPEp.A11T
Missense
SNP
0.579
2--
CPS1p.R912Gfs*26
Frame_Shift_Del
DEL
0.375
2--
CPSF1-
-
-
-
3Gain-
CPVLp.K265Sfs*11
Frame_Shift_Del
DEL
0.462
2--
CPXM1p.F694Ifs*47
Frame_Shift_Ins
INS
0.307
2--
CR1p.I1796M
Missense
SNP
0.452
2--
CR2p.P27L
Missense
SNP
0.521
2--
CRAT-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREBBPp.I1084Sfs*15
Frame_Shift_Del
DEL
0.590
2--
CROTp.C43Y
Missense
SNP
0.444
2--
CRYBG3p.L2804Ffs*10
Frame_Shift_Ins
INS
0.325
2--
CRYMp.F34L
Missense
SNP
0.562
2--
CSF2p.G85Afs*10
Frame_Shift_Del
DEL
0.487
2--
CSMD1p.K3550Rfs*3
p.R302S
Frame_Shift_Del
Missense
DEL
SNP
0.447
0.553
2--
CSMD3p.T3702M
p.E2501D
Missense
Missense
SNP
SNP
0.429
0.489
2--
CSNK1Dp.I68S
Missense
SNP
0.462
2--
CTB-133G6.1p.V186A
Missense
SNP
0.510
NDND-
CTB-50L17.10p.E621V
Missense
SNP
0.362
NDND-
CTC-534A2.2p.N144Tfs*13
Frame_Shift_Del
DEL
0.420
NDND-
CTNNAL1-
-
-
-
3Gain-
CTNND2p.E899D
Missense
SNP
0.673
2--
CTRB1p.P41Qfs*19
Frame_Shift_Del
DEL
0.372
2--
CTSCp.F105Lfs*10
Frame_Shift_Del
DEL
0.644
2--
CTSL-
-
-
-
3Gain-
CTSVp.A17T
Missense
SNP
0.378
3Gain-
CTSZp.X103_splice
Splice_Site
SNP
0.625
2--
CUBNp.Q3289*
p.E2827K
Nonsense
Missense
SNP
SNP
0.450
0.365
2--
CUL1p.D516Rfs*47
Frame_Shift_Ins
INS
0.315
2--
CWC22p.G131R
Missense
SNP
0.491
2--
CYB5D2p.R239H
Missense
SNP
0.600
2--
CYC1p.S93Qfs*26
Frame_Shift_Ins
INS
0.373
3Gain-
CYGBp.W190Gfs*13
Frame_Shift_Del
DEL
0.528
2--
CYHR1-
-
-
-
3Gain-
CYLC2-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP27B1p.V75M
Missense
SNP
0.536
2--
CYP2D6p.N398S
Missense
SNP
0.256
2--
CYSRT1-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DAPK1p.Y1275Tfs*31
p.E1006A
Frame_Shift_Del
Missense
DEL
SNP
0.177
0.211
3Gain-
DAXXp.R256H
Missense
SNP
0.564
2--
DBH-
-
-
-
3Gain-
DCAF1p.R294H
Missense
SNP
0.479
2--
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCHS2p.S255G
Missense
SNP
0.415
2--
DCLRE1Ap.P708H
Missense
SNP
0.527
2--
DCSTAMPp.L451R
Missense
SNP
0.486
2--
DCTN1p.R32C
Missense
SNP
0.441
2--
DCTN3-
-
-
-
3Gain-
DDIASp.Q293H
Missense
SNP
0.533
2--
DDOSTp.R254H
Missense
SNP
0.483
2--
DDR1p.L186_D189delinsH
In_Frame_Del
DEL
0.394
2--
DDX20p.R722I
Missense
SNP
0.391
2--
DDX27p.P778S
Missense
SNP
0.513
2--
DDX31p.V581I
Missense
SNP
0.312
3Gain-
DDX39Ap.I423T
Missense
SNP
0.483
2--
DDX46p.R551C
Missense
SNP
0.489
2--
DDX58-
-
-
-
3Gain-
DEC1-
-
-
-
3Gain-
DECR2-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND3p.V1192A
Missense
SNP
0.791
3Gain-
DENND4C-
-
-
-
3Gain-
DENND6Bp.M98T
Missense
SNP
0.653
2--
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DHHp.A356T
Missense
SNP
0.500
2--
DHX30p.F982L
Missense
SNP
0.429
2--
DIO2p.R53H
Missense
SNP
0.423
2--
DIP2Cp.P1036Qfs*3
Frame_Shift_Del
DEL
0.419
2--
DIRAS2-
-
-
-
3Gain-
DLC1p.R349M
Missense
SNP
0.466
2--
DLG4p.L422P
Missense
SNP
0.547
2--
DLGAP2p.A626V
p.A935V
Missense
Missense
SNP
SNP
0.526
0.538
2--
DMAC1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMDp.Q1383E
Missense
SNP
1.000
NDND-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMXL2p.L109*
Frame_Shift_Del
DEL
0.800
2--
DNAH12p.T1735A
Missense
SNP
0.400
2--
DNAH6p.S114Vfs*16
Frame_Shift_Del
DEL
0.091
2--
DNAH7p.P3413L
p.X248_splice
Missense
Splice_Site
SNP
SNP
0.406
0.483
2--
DNAH9p.Y3029C
Missense
SNP
0.374
2--
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJB5p.A347T
Missense
SNP
0.659
3Gain-
DNAJB7p.K295Rfs*25
Frame_Shift_Del
DEL
0.511
2--
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNHD1p.F640L
Missense
SNP
0.462
2--
DNLZ-
-
-
-
3Gain-
DNM1-
-
-
-
3Gain-
DNMT3Ap.T834A
Missense
SNP
0.474
2--
DNMT3Lp.A39S
Missense
SNP
0.475
2--
DOC2Ap.A242V
Missense
SNP
0.549
2--
DOCK1p.A359T
Missense
SNP
0.500
2--
DOCK10p.L1088R
p.L594I
Missense
Missense
SNP
SNP
0.441
0.324
2--
DOCK3p.P1852Qfs*45
Frame_Shift_Del
DEL
0.424
2--
DOCK8-
-
-
-
3Gain-
DOK6p.M238I
Missense
SNP
0.574
2--
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DOT1Lp.P537Lfs*122
Frame_Shift_Del
DEL
0.385
2--
DPF3p.R232L
Missense
SNP
0.484
2--
DPH7-
-
-
-
3Gain-
DPM2-
-
-
-
3Gain-
DPP6p.P297Q
Missense
SNP
0.510
2--
DPP7-
-
-
-
3Gain-
DPYSL3p.A630Qfs*15
Frame_Shift_Del
DEL
0.415
2--
DROSHAp.L612Pfs*8
Frame_Shift_Ins
INS
0.214
2--
DRP2p.L639S
Missense
SNP
1.000
NDND-
DSCAML1p.I433V
Missense
SNP
0.425
2--
DSCC1-
-
-
-
3Gain-
DSG2p.I845*
Frame_Shift_Del
DEL
0.438
2--
DUSP27p.A892V
Missense
SNP
0.477
2--
DYNC1H1p.R2179*
Nonsense
SNP
0.562
2--
DYNC2H1p.G2762Wfs*10
Frame_Shift_Ins
INS
0.298
2--
DYRK1Bp.L592P
Missense
SNP
0.895
2--
DYRK4p.R355Dfs*12
Frame_Shift_Del
DEL
0.562
2--
DYSFp.L1317P
p.R1759C
Missense
Missense
SNP
SNP
0.516
0.458
2--
EARS2p.P85H
Missense
SNP
0.367
2--
EBF4p.V270I
Missense
SNP
0.538
2--
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
EDA2Rp.P237H
Missense
SNP
1.000
NDND-
EDF1-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EFCAB5p.K150Nfs*17
Frame_Shift_Del
DEL
0.464
2--
EFCAB8p.S1180G
Missense
SNP
0.525
2--
EFL1p.T1069Nfs*3
Frame_Shift_Ins
INS
0.223
2--
EFR3A-
-
-
-
3Gain-
EGFL7-
-
-
-
3Gain-
EGFRp.V769A
Missense
SNP
0.522
2--
EHMT1-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF5Bp.K50Sfs*10
Frame_Shift_Del
DEL
0.423
2--
ELAVL1p.T90Pfs*13
Frame_Shift_Del
DEL
0.479
2--
ELAVL2-
-
-
-
3Gain-
ELAVL3p.G102S
Missense
SNP
0.579
2--
ELNp.A707D
Missense
SNP
0.694
2--
ELP1-
-
-
-
3Gain-
EML2p.Y803*
Nonsense
SNP
0.491
2--
ENDOG-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENO4p.K207Rfs*32
Frame_Shift_Del
DEL
0.662
2--
ENPP2-
-
-
-
3Gain-
ENTPD2-
-
-
-
3Gain-
ENTPD8-
-
-
-
3Gain-
ENTR1-
-
-
-
3Gain-
EPB41L4B-
-
-
-
3Gain-
EPB42p.A242V
Missense
SNP
0.562
2--
EPN1p.G337Afs*191
Frame_Shift_Del
DEL
0.382
2--
EPN2p.T470Nfs*19
Frame_Shift_Ins
INS
0.295
2--
EPPK1-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERC1p.R169Q
Missense
SNP
0.052
2--
ERCC5p.K952Nfs*30
Frame_Shift_Del
DEL
0.447
2--
ERCC6p.R1230H
Missense
SNP
0.491
2--
ERCC6L2-
-
-
-
3Gain-
ERMP1p.T651Pfs*3
Frame_Shift_Del
DEL
0.591
3Gain-
ERP44-
-
-
-
3Gain-
ERVV-2p.A415Gfs*11
Frame_Shift_Ins
INS
0.284
2--
ESPNp.P209Rfs*18
Frame_Shift_Del
DEL
0.450
2--
ESR1p.R241W
Missense
SNP
0.381
2--
ESR2p.Q20R
Missense
SNP
0.549
2--
ETS2p.X102_splice
Splice_Site
SNP
0.485
2--
ETV4p.D80N
Missense
SNP
0.441
2--
EVA1Bp.T146Kfs*65
Frame_Shift_Del
DEL
0.370
2--
EVPLp.G366Afs*75
Frame_Shift_Del
DEL
0.538
2--
EXD3-
-
-
-
3Gain-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
EXOSC9p.F78Lfs*23
Frame_Shift_Del
DEL
0.459
2--
EXT1-
-
-
-
3Gain-
EYSp.D762V
Missense
SNP
0.442
2--
F10p.R313Q
Missense
SNP
0.462
2--
FAAP24p.G27W
Missense
SNP
0.621
2--
FAF1p.A552V
Missense
SNP
0.688
2--
FAM102A-
-
-
-
3Gain-
FAM110Ap.P32Afs*47
Frame_Shift_Ins
INS
0.222
2--
FAM110Dp.W136Lfs*224
Frame_Shift_Ins
INS
0.287
2--
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM129Ap.P251S
Missense
SNP
0.523
2--
FAM129B-
-
-
-
3Gain-
FAM134Bp.E20D
Missense
SNP
0.516
NDND-
FAM135Ap.N999Ifs*5
Frame_Shift_Del
DEL
0.370
2--
FAM135B-
-
-
-
3Gain-
FAM160B2p.P728Hfs*99
Frame_Shift_Del
DEL
0.437
2--
FAM163B-
-
-
-
3Gain-
FAM166A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM173Ap.P214H
Missense
SNP
0.561
2--
FAM181Bp.E185*
Frame_Shift_Ins
INS
0.246
2--
FAM189A2-
-
-
-
3Gain-
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.432
2--
FAM205A-
-
-
-
3Gain-
FAM205C-
-
-
-
3Gain-
FAM206A-
-
-
-
3Gain-
FAM214Ap.N596S
p.R146*
Missense
Nonsense
SNP
SNP
0.333
0.510
2--
FAM214B-
-
-
-
3Gain-
FAM218Ap.A146V
Missense
SNP
0.568
2--
FAM219A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM234A-
-
-
-
1Loss-
FAM46Bp.T345I
Missense
SNP
0.526
NDND-
FAM47Bp.R198H
Missense
SNP
1.000
NDND-
FAM49B-
-
-
-
3Gain-
FAM65Ap.L718I
Missense
SNP
0.484
NDND-
FAM65Cp.L380R
Missense
SNP
0.539
NDND-
FAM69B-
-
-
-
3Gain-
FAM78A-
-
-
-
3Gain-
FAM81Bp.G145V
Missense
SNP
0.524
2--
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM95C-
-
-
-
3Gain-
FANCC-
-
-
-
3Gain-
FANCG-
-
-
-
3Gain-
FANCMp.V1336Lfs*2
Frame_Shift_Del
DEL
0.553
2--
FARP1p.A287V
Missense
SNP
0.495
2--
FAT4p.X2482_splice
p.D3430Y
Splice_Site
Missense
SNP
SNP
0.537
0.466
2--
FBN1p.S104F
Missense
SNP
0.444
2--
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.397
2--
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXO10-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO42p.R412I
Missense
SNP
0.533
2--
FBXW12p.R254S
Missense
SNP
0.436
2--
FBXW2-
-
-
-
3Gain-
FBXW5p.S247N
Missense
SNP
0.460
3Gain-
FBXW7p.R465C
Missense
SNP
0.471
2--
FCN1-
-
-
-
3Gain-
FCN2-
-
-
-
3Gain-
FER1L6p.Q1016H
Missense
SNP
0.629
3Gain-
FERMT2p.D57Rfs*4
Frame_Shift_Ins
INS
0.355
2--
FGD3-
-
-
-
3Gain-
FGF4p.R57C
Missense
SNP
0.622
2--
FGFR1OPp.S291Vfs*12
Frame_Shift_Del
DEL
0.359
2--
FHOD3p.S336Vfs*171
Frame_Shift_Del
DEL
0.459
2--
FIBCD1-
-
-
-
3Gain-
FKBP15p.P1071A
Missense
SNP
0.424
3Gain-
FKRPp.E376K
Missense
SNP
0.469
2--
FKTN-
-
-
-
3Gain-
FLNAp.D2634Tfs*71
Frame_Shift_Del
DEL
0.990
NDND-
FLNBp.N1728I
Missense
SNP
0.495
2--
FLVCR2p.S62N
Missense
SNP
0.507
2--
FMNL1p.M798T
Missense
SNP
0.549
2--
FMR1p.K354Nfs*3
Frame_Shift_Del
DEL
0.958
NDND-
FN1p.V1338I
p.R479H
Missense
Missense
SNP
SNP
0.432
0.591
2--
FNBP1-
-
-
-
3Gain-
FNIP1p.Q1128Afs*16
Frame_Shift_Ins
INS
0.280
2--
FOCAD-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXD4L4-
-
-
-
3Gain-
FOXD4L5-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.425
2--
FOXRED2p.R403*
Nonsense
SNP
0.432
2--
FP236383.2-
-
-
-
NDNDFP236383.2--LRTOMT
FPGS-
-
-
-
3Gain-
FREM1-
-
-
-
3Gain-
FRMD1p.R318M
Missense
SNP
0.731
2--
FRMD3-
-
-
-
3Gain-
FRMPD1-
-
-
-
3Gain-
FRRS1p.R393W
Missense
SNP
0.427
2--
FRRS1L-
-
-
-
3Gain-
FRYp.Y1426H
Missense
SNP
0.389
2--
FSD1L-
-
-
-
3Gain-
FSHRp.N354T
Missense
SNP
0.442
2--
FTOp.V116I
Missense
SNP
0.543
2--
FUBP3-
-
-
-
3Gain-
FUKp.L851M
Missense
SNP
0.269
2--
FUT7-
-
-
-
3Gain-
FUT8p.R473*
Nonsense
SNP
0.580
2--
FXN-
-
-
-
3Gain-
FXR2p.P540Qfs*32
p.D9Mfs*22
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.536
0.410
2--
FZR1p.N335S
Missense
SNP
0.417
2--
GAB1p.T221Rfs*?
Frame_Shift_Del
DEL
0.534
2--
GAB3p.A99V
Missense
SNP
1.000
NDND-
GAB4p.D77A
Missense
SNP
0.420
2--
GABBR1p.A21T
Missense
SNP
0.592
2--
GABBR2-
-
-
-
3Gain-
GABRB2p.S500Pfs*12
Frame_Shift_Del
DEL
0.536
2--
GABRG2p.M23Nfs*17
Frame_Shift_Ins
INS
0.262
2--
GADD45G-
-
-
-
3Gain-
GALNT10p.Y450C
Missense
SNP
0.535
2--
GALNT12p.G215R
Missense
SNP
0.554
3Gain-
GALT-
-
-
-
3Gain-
GAMTp.A19T
Missense
SNP
0.474
2--
GAPVD1-
-
-
-
3Gain-
GARNL3-
-
-
-
3Gain-
GAS1-
-
-
-
3Gain-
GAS2L3p.R262C
Missense
SNP
0.532
2--
GAS6p.R151Pfs*27
Frame_Shift_Ins
INS
0.315
2--
GAS7p.M1?
p.P112H
Frame_Shift_Del
Missense
DEL
SNP
0.352
0.650
2--
GBA2-
-
-
-
3Gain-
GBGT1-
-
-
-
3Gain-
GCGRp.G196E
Missense
SNP
0.486
2--
GCM2p.P269T
Missense
SNP
0.436
2--
GCNT1-
-
-
-
3Gain-
GCNT3p.Y135H
Missense
SNP
0.490
2--
GCNT7p.D323Mfs*73
Frame_Shift_Del
DEL
0.500
2--
GDA-
-
-
-
3Gain-
GDF7p.A418T
Missense
SNP
0.482
2--
GDPD5p.M534V
Missense
SNP
0.546
2--
GEMIN5p.F304Lfs*58
Frame_Shift_Del
DEL
0.541
2--
GFI1B-
-
-
-
3Gain-
GFPT2p.V463I
Missense
SNP
0.508
2--
GHITMp.T166I
Missense
SNP
0.524
2--
GIGYF1p.L111Pfs*20
Frame_Shift_Ins
INS
0.271
2--
GK2p.I130Ffs*23
Frame_Shift_Del
DEL
0.333
2--
GKAP1-
-
-
-
3Gain-
GLB1p.N669Tfs*17
Frame_Shift_Del
DEL
0.494
2--
GLDC-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLI1p.G274Afs*6
Frame_Shift_Del
DEL
0.442
2--
GLI2p.V1361Wfs*8
p.E617G
Frame_Shift_Del
Missense
DEL
SNP
0.324
0.537
2--
GLI4-
-
-
-
3Gain-
GLIPR2p.P151S
Missense
SNP
0.675
3Gain-
GLIS1p.T73Pfs*29
Frame_Shift_Del
DEL
0.365
2--
GLIS3-
-
-
-
3Gain-
GLT6D1-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNAQ-
-
-
-
3Gain-
GNASp.Q870H
Missense
SNP
0.495
2--
GNAZp.Q205Rfs*29
Frame_Shift_Del
DEL
0.427
2--
GNB1Lp.X43_splice
Splice_Site
SNP
0.439
2--
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNRHRp.S327Lfs*4
Frame_Shift_Del
DEL
0.561
2--
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLM1-
-
-
-
3Gain-
GOT1p.A230T
Missense
SNP
0.588
2--
GOT2p.G173S
Missense
SNP
0.380
2--
GP1BAp.P450L
Missense
SNP
0.396
2--
GPAA1-
-
-
-
3Gain-
GPATCH4p.R340Q
Missense
SNP
0.536
2--
GPATCH8p.A32V
Missense
SNP
0.522
2--
GPIHBP1-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR21-
-
-
-
3Gain-
GPR6p.A106V
Missense
SNP
0.607
2--
GPSM1-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GRAMD1Cp.K43Nfs*42
Frame_Shift_Del
DEL
0.426
2--
GRB14p.K297Nfs*23
Frame_Shift_Del
DEL
0.555
2--
GRHPR-
-
-
-
3Gain-
GRIA4p.L784P
Missense
SNP
0.509
2--
GRIN1-
-
-
-
3Gain-
GRIN2Bp.G1370R
Missense
SNP
0.429
2--
GRIN3A-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
GRK2p.R378Gfs*29
Frame_Shift_Del
DEL
0.427
2--
GRK4p.R222Efs*2
Frame_Shift_Del
DEL
0.324
2--
GRM1p.K891E
Missense
SNP
0.500
2--
GRM3p.Q855*
Nonsense
SNP
0.506
2--
GSCp.C18Y
Missense
SNP
0.438
2--
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSN-
-
-
-
3Gain-
GSTM1p.C115R
Missense
SNP
1.000
2--
GTF2IRD1p.G951R
Missense
SNP
0.425
2--
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
HABP4-
-
-
-
3Gain-
HACD3p.E136G
Missense
SNP
0.478
2--
HACD4-
-
-
-
3Gain-
HAND2p.A87V
Missense
SNP
0.645
2--
HAPLN4p.T236Pfs*43
Frame_Shift_Del
DEL
0.498
2--
HAS1p.V251M
Missense
SNP
0.508
2--
HAS2-
-
-
-
3Gain-
HAUS6-
-
-
-
3Gain-
HCAR2p.Y295C
Missense
SNP
0.361
2--
HCRTR2p.C12Lfs*12
Frame_Shift_Ins
INS
0.333
2--
HDAC4p.Q499R
Missense
SNP
0.451
2--
HDHD3-
-
-
-
3Gain-
HEATR6p.V438Ffs*24
Frame_Shift_Del
DEL
0.446
2--
HECTD4p.A3240Rfs*26
p.N3556S
Frame_Shift_Del
Missense
DEL
SNP
0.472
0.500
2--
HECW1p.R992W
Missense
SNP
0.482
2--
HECW2p.K383Sfs*12
Frame_Shift_Del
DEL
0.504
2--
HELZ2p.K2462N
Missense
SNP
0.414
2--
HEMGN-
-
-
-
3Gain-
HERC1p.K3605Nfs*17
Frame_Shift_Del
DEL
0.529
2--
HERC2p.X3714_splice
Splice_Site
SNP
0.625
2--
HFE2p.C321Vfs*21
p.R332H
Frame_Shift_Ins
Missense
INS
SNP
0.296
0.548
NDND-
HGH1-
-
-
-
3Gain-
HGSp.E236Sfs*3
Frame_Shift_Del
DEL
0.559
2--
HHLA1-
-
-
-
3Gain-
HINT2-
-
-
-
3Gain-
HIPK3p.X633_splice
Splice_Site
SNP
0.483
2--
HIST1H2BOp.A8Lfs*15
Frame_Shift_Ins
INS
0.352
2--
HIST1H3Ip.R18H
Missense
SNP
0.478
2--
HIVEP2p.K643N
Missense
SNP
0.453
2--
HLA-Bp.L154P
Missense
SNP
0.259
2--
HLA-Cp.L154P
Missense
SNP
0.188
2--
HMCN2p.L3008P
Missense
SNP
0.278
3Gain-
HMGCLp.R10L
Missense
SNP
0.525
2--
HMX3p.P23Hfs*100
Frame_Shift_Del
DEL
0.434
2--
HNF1Ap.P379Lfs*5
Frame_Shift_Del
DEL
0.515
2--
HNRNPABp.D85Ifs*2
Frame_Shift_Del
DEL
0.455
2--
HNRNPCL1p.A35V
Missense
SNP
0.652
2--
HNRNPK-
-
-
-
3Gain-
HNRNPMp.G413Vfs*115
Frame_Shift_Del
DEL
0.466
2--
HOMEZp.A301V
Missense
SNP
0.535
2--
HOXA11p.I299Lfs*30
Frame_Shift_Del
DEL
0.619
2--
HOXA2p.M98T
Missense
SNP
0.276
2--
HOXD11p.A29T
Missense
SNP
0.510
2--
HOXD8p.Q202*
Nonsense
SNP
0.325
2--
HP1BP3p.M39V
Missense
SNP
0.500
2--
HPRp.R60H
Missense
SNP
0.409
2--
HPS1p.M325Wfs*6
Frame_Shift_Del
DEL
0.478
2--
HRCT1-
-
-
-
3Gain-
HSD17B1p.P57Q
Missense
SNP
0.465
2--
HSD17B3-
-
-
-
3Gain-
HSDL2-
-
-
-
3Gain-
HSF1p.K157R
p.S412R
Missense
Missense
SNP
SNP
0.255
0.372
3Gain-
HSPA5-
-
-
-
3Gain-
HSPG2p.W938R
Missense
SNP
0.443
2--
HTR1Bp.Y157C
Missense
SNP
0.439
2--
HTR7p.T89K
Missense
SNP
0.462
2--
HTRA1-
-
-
-
1Loss-
HTTp.R1647H
Missense
SNP
0.465
2--
HYAL1p.R191W
Missense
SNP
0.481
2--
IARS-
-
-
-
3Gain-
IDEp.W355C
Missense
SNP
0.450
2--
IDNK-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFFO1p.Q277H
Missense
SNP
0.495
2--
IFI27L2p.G52Vfs*?
Frame_Shift_Del
DEL
0.422
2--
IFIT3p.Y419H
Missense
SNP
0.512
2--
IFITM10p.L225Sfs*32
Frame_Shift_Del
DEL
0.446
2--
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNW1-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT80p.*778Lext*12
Nonstop
SNP
0.469
2--
IGFBPL1-
-
-
-
3Gain-
IGLON5p.I220T
Missense
SNP
0.633
2--
IGSF22p.G835D
Missense
SNP
0.408
2--
IGSF8p.G161Rfs*18
p.V79A
Frame_Shift_Ins
Missense
INS
SNP
0.282
0.453
2--
IKBKEp.R525Q
Missense
SNP
0.561
2--
IL11RA-
-
-
-
3Gain-
IL17REp.W327R
Missense
SNP
0.531
2--
IL33-
-
-
-
3Gain-
ILKp.L71Cfs*26
p.G408D
Frame_Shift_Del
Missense
DEL
SNP
0.119
0.458
2--
INIP-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5E-
-
-
-
3Gain-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM2p.R127H
Missense
SNP
0.375
2--
INSRp.V173M
Missense
SNP
0.528
2--
INTS1p.E130K
Missense
SNP
0.524
2--
INTS12p.M168I
Missense
SNP
0.373
2--
INVS-
-
-
-
3Gain-
IPO4p.A36Pfs*10
Frame_Shift_Del
DEL
0.402
2--
IPO7p.D904G
Missense
SNP
0.500
2--
IPO8p.V198L
Missense
SNP
0.515
2--
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCA1p.E314K
Missense
SNP
0.553
2--
IRF8p.P175Q
Missense
SNP
0.533
2--
IRGQp.R330C
Missense
SNP
0.548
2--
IRS1p.P368Rfs*95
Frame_Shift_Del
DEL
0.500
2--
IRX3p.E236Gfs*12
Frame_Shift_Ins
INS
0.223
2--
ISCA1-
-
-
-
3Gain-
ISG20L2p.L289Sfs*15
Frame_Shift_Del
DEL
0.468
2--
ISLR2p.A350T
Missense
SNP
0.467
2--
ITPR2p.W2229Sfs*15
p.R1837Gfs*7
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.286
0.410
2--
IWS1p.A320V
Missense
SNP
0.475
2--
IZUMO2p.G20D
Missense
SNP
0.460
2--
IZUMO3-
-
-
-
3Gain-
JADE3p.R753M
Missense
SNP
1.000
NDND-
JAK2-
-
-
-
3Gain-
JMJD1Cp.V117I
Missense
SNP
0.400
2--
JRK-
-
-
-
3Gain-
JUPp.N5D
Missense
SNP
0.529
2--
KANK1p.E26V
Missense
SNP
0.610
3Gain-
KANK2p.P430Rfs*5
Frame_Shift_Del
DEL
0.383
2--
KANK4p.S627A
Missense
SNP
0.333
2--
KANSL2p.G458E
Missense
SNP
0.395
2--
KAT5p.R253*
Nonsense
SNP
0.506
2--
KAT6Bp.N1883Tfs*2
Frame_Shift_Del
DEL
0.513
2--
KCNH1p.N93Y
Missense
SNP
0.600
2--
KCNH3p.G1050Afs*39
Frame_Shift_Del
DEL
0.367
2--
KCNH4p.R800Gfs*28
Frame_Shift_Del
DEL
0.500
2--
KCNH7p.N719Kfs*2
Frame_Shift_Ins
INS
0.319
2--
KCNH8p.K209Sfs*29
Frame_Shift_Del
DEL
0.464
2--
KCNK9-
-
-
-
3Gain-
KCNN3p.P217Rfs*67
Frame_Shift_Del
DEL
0.586
2--
KCNQ3p.K533Nfs*6
Frame_Shift_Del
DEL
0.548
3Gain-
KCNT1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KDM4C-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0408.
Splice_Site
SNP
0.417
2--
KIAA0556p.S14P
Missense
SNP
0.446
2--
KIAA0753p.H116Tfs*21
Frame_Shift_Ins
INS
0.359
2--
KIAA1024p.S702Afs*11
Frame_Shift_Del
DEL
0.898
2--
KIAA1109p.V4405M
Missense
SNP
0.391
2--
KIAA1462p.D507Mfs*23
Frame_Shift_Del
DEL
0.400
NDND-
KIAA1549Lp.K830E
Missense
SNP
0.448
2--
KIAA1683p.P498S
Missense
SNP
0.580
NDND-
KIAA1755p.A633T
Missense
SNP
0.526
2--
KIAA1958p.K423R
Missense
SNP
0.279
3Gain-
KIAA2012p.K841Nfs*2
Frame_Shift_Del
DEL
0.533
2--
KIAA2026-
-
-
-
3Gain-
KIDINS220p.R596M
Missense
SNP
0.595
2--
KIF12-
-
-
-
3Gain-
KIF17p.R232W
Missense
SNP
0.364
2--
KIF1Ap.R1302H
Missense
SNP
0.529
2--
KIF1Cp.Q542R
Missense
SNP
0.503
2--
KIF21Ap.I1235Ffs*7
Frame_Shift_Del
DEL
0.429
2--
KIF21Bp.G1202Afs*16
Frame_Shift_Del
DEL
0.449
2--
KIF24-
-
-
-
3Gain-
KIF26Ap.G417A
p.K916E
Missense
Missense
SNP
SNP
0.537
0.452
2--
KIF26Bp.A1835Pfs*41
Frame_Shift_Del
DEL
0.676
2--
KIF27-
-
-
-
3Gain-
KIF4Bp.A717V
Missense
SNP
0.510
2--
KIFC2-
-
-
-
3Gain-
KIR2DL4p.D310Mfs*4
Frame_Shift_Del
DEL
0.375
2--
KLF3p.K106Nfs*21
Frame_Shift_Del
DEL
0.509
2--
KLF4-
-
-
-
3Gain-
KLF9-
-
-
-
3Gain-
KLHDC7Bp.P586Lfs*83
Frame_Shift_Del
DEL
0.521
2--
KLHL38-
-
-
-
3Gain-
KLHL4p.L384I
Missense
SNP
1.000
NDND-
KLHL9-
-
-
-
3Gain-
KLK9p.A150Pfs*?
Frame_Shift_Del
DEL
0.446
2--
KMT2Ap.P58Rfs*92
Frame_Shift_Del
DEL
0.551
2--
KMT2Bp.L2359R
Missense
SNP
0.500
2--
KMT2Dp.G4479E
p.X134_splice
Missense
Splice_Site
SNP
SNP
0.432
0.554
2--
KNTC1p.K1646Nfs*2
Frame_Shift_Del
DEL
0.365
2--
KPNA1p.L451P
Missense
SNP
0.562
2--
KRT12p.G291Efs*75
Frame_Shift_Del
DEL
0.435
2--
KRT15p.S34Vfs*31
Frame_Shift_Del
DEL
0.432
2--
KRT18p.G41Afs*27
Frame_Shift_Del
DEL
0.450
2--
KRT32p.R203H
Missense
SNP
0.500
2--
KRT71p.R46Q
Missense
SNP
0.478
2--
KRTAP10-1p.V269G
Missense
SNP
0.422
2--
KRTAP13-1p.S51P
Missense
SNP
0.402
2--
KRTAP24-1p.G66S
Missense
SNP
0.628
2--
KSR2p.V242M
Missense
SNP
0.419
2--
KYAT1-
-
-
-
3Gain-
L3MBTL1p.S263N
Missense
SNP
0.540
2--
LAMA1p.K907E
p.A15T
Missense
Missense
SNP
SNP
0.778
0.500
2--
LAMA3p.T2580Hfs*68
p.Y2850C
p.T3028A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.483
0.555
0.543
2--
LAMC3p.F794Lfs*90
Frame_Shift_Del
DEL
0.263
3Gain-
LARGE1p.T319I
Missense
SNP
0.440
2--
LARGE2p.A225V
Missense
SNP
0.432
2--
LARP4Bp.T163Hfs*47
Frame_Shift_Del
DEL
0.440
2--
LARP7.
Frame_Shift_Del
DEL
0.933
2--
LCE1Cp.C44Y
Missense
SNP
0.409
2--
LCN1-
-
-
-
3Gain-
LCN10-
-
-
-
3Gain-
LCN12-
-
-
-
3Gain-
LCN15-
-
-
-
3Gain-
LCN2-
-
-
-
3Gain-
LCN6-
-
-
-
3Gain-
LCN8-
-
-
-
3Gain-
LCN9-
-
-
-
3Gain-
LCNL1-
-
-
-
3Gain-
LDB1p.P24Rfs*81
Frame_Shift_Del
DEL
0.494
2--
LDLRAD1p.G8V
Missense
SNP
0.438
2--
LDLRAD2p.A108V
Missense
SNP
0.532
2--
LGALS4p.K97Rfs*10
Frame_Shift_Del
DEL
0.425
2--
LGI3p.S396F
Missense
SNP
0.426
2--
LGI4p.T509A
Missense
SNP
0.598
2--
LGR6p.R510Gfs*75
Frame_Shift_Del
DEL
0.550
2--
LHX2p.P364H
Missense
SNP
0.402
3Gain-
LHX3-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LIMK1p.E369*
Nonsense
SNP
0.475
2--
LINGO1p.V12Rfs*167
Frame_Shift_Ins
INS
0.257
2--
LINGO2-
-
-
-
3Gain-
LMAN1p.E305Rfs*22
Frame_Shift_Del
DEL
0.473
2--
LMNB2p.S544Rfs*31
Frame_Shift_Del
DEL
0.422
2--
LMNTD2p.L603Pfs*?
Frame_Shift_Ins
INS
0.337
2--
LMX1B-
-
-
-
3Gain-
LNP1p.R117W
Missense
SNP
0.352
2--
LNPEPp.N145Tfs*6
Frame_Shift_Del
DEL
0.392
2--
LNX2p.D457G
p.V103D
Missense
Missense
SNP
SNP
0.453
0.485
2--
LONP2p.A216V
Missense
SNP
0.432
2--
LPAR1-
-
-
-
3Gain-
LPAR2p.E285K
Missense
SNP
0.556
2--
LPAR3p.Y14Ifs*18
Frame_Shift_Del
DEL
0.455
2--
LPAR5p.L26M
Missense
SNP
0.486
2--
LRBAp.I2118Sfs*46
p.T2011Qfs*11
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.375
0.459
2--
LRIG3p.V41Sfs*22
Frame_Shift_Del
DEL
0.333
2--
LRP4p.L1836Pfs*24
Frame_Shift_Ins
INS
0.278
2--
LRRC14-
-
-
-
3Gain-
LRRC16Ap.K265Nfs*6
Frame_Shift_Del
DEL
0.448
NDND-
LRRC19-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC26-
-
-
-
3Gain-
LRRC29p.A147T
Missense
SNP
0.486
2--
LRRC41p.S134Pfs*116
Frame_Shift_Del
DEL
0.500
2--
LRRC55p.G126D
Missense
SNP
0.521
2--
LRRC56p.I273Sfs*137
Frame_Shift_Del
DEL
0.404
2--
LRRC6-
-
-
-
3Gain-
LRRC8A-
-
-
-
3Gain-
LRRC8Dp.I390M
Missense
SNP
0.494
2--
LRRC9p.N647Tfs*11
Frame_Shift_Del
DEL
0.476
2--
LRSAM1-
-
-
-
3Gain-
LRTOMT-
-
-
-
2-FP236383.2--LRTOMT
LTBP3p.W311C
Missense
SNP
0.600
2--
LTBP4p.A1409Pfs*21
Frame_Shift_Ins
INS
0.268
2--
LTFp.A359S
Missense
SNP
0.506
2--
LTN1p.V747Sfs*5
Frame_Shift_Del
DEL
0.979
2--
LURAP1L-
-
-
-
3Gain-
LUZP1p.M224*
Frame_Shift_Del
DEL
0.282
2--
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LYARp.P239Lfs*49
Frame_Shift_Del
DEL
0.524
2--
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYSMD2p.H214P
Missense
SNP
0.630
2--
LZTR1p.H287Q
Missense
SNP
0.424
2--
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MAMDC2-
-
-
-
3Gain-
MAMDC4p.A856V
Missense
SNP
0.338
3Gain-
MAN1B1-
-
-
-
3Gain-
MAP2K7p.X127_splice
Splice_Site
SNP
0.525
2--
MAP3K10p.R221W
Missense
SNP
0.509
2--
MAP3K4p.R94H
Missense
SNP
0.553
2--
MAP7D3p.Q308Rfs*2
Frame_Shift_Del
DEL
0.921
NDND-
MAPK15-
-
-
-
3Gain-
MAPKAP1-
-
-
-
3Gain-
MAPRE3p.C182Lfs*16
Frame_Shift_Ins
INS
0.261
2--
MARCH4p.A128T
p.C14W
Missense
Missense
SNP
SNP
0.604
0.512
2--
MASP1p.S529L
Missense
SNP
0.500
2--
MAST2p.F726Lfs*12
Frame_Shift_Del
DEL
0.444
2--
MAST3p.R1178G
Missense
SNP
0.579
2--
MAST4p.S1880Afs*59
Frame_Shift_Del
DEL
0.357
2--
MBNL1p.A52T
Missense
SNP
0.431
2--
MCIDASp.P169L
Missense
SNP
0.429
2--
MCM2p.G43S
Missense
SNP
0.538
2--
MCM4p.X392_splice
Splice_Site
SNP
0.509
2--
MCM5p.P383H
Missense
SNP
0.492
2--
MCTP1p.X871_splice
Splice_Site
SNP
0.538
2--
MDM4p.X26_splice
Splice_Site
DEL
0.391
2--
MED14p.D619N
Missense
SNP
1.000
NDND-
MED22-
-
-
-
3Gain-
MED27-
-
-
-
3Gain-
MED30-
-
-
-
3Gain-
MEGF8p.G1857R
Missense
SNP
0.507
2--
MEGF9-
-
-
-
3Gain-
MELK-
-
-
-
3Gain-
MEPCEp.P127Lfs*29
Frame_Shift_Del
DEL
0.381
2--
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD4Ap.G302R
Missense
SNP
0.495
2--
MGAT4Bp.G6C
Missense
SNP
0.570
2--
MGST3p.X12_splice
Splice_Site
SNP
0.481
2--
MIAp.A98V
Missense
SNP
0.441
2--
MIB1p.S139Y
Missense
SNP
0.500
2--
MID1p.P563L
Missense
SNP
1.000
NDND-
MIGA2-
-
-
-
3Gain-
MIIPp.R261H
Missense
SNP
0.592
2--
MINAp.L339Pfs*25
Frame_Shift_Del
DEL
0.667
NDND-
MINPP1p.L159P
Missense
SNP
0.540
2--
MKL1p.A881T
Missense
SNP
0.444
NDND-
MKL2p.X749_splice
Splice_Site
SNP
0.375
NDND-
MKRN3p.A162Gfs*15
Frame_Shift_Ins
INS
0.279
2--
MLANA-
-
-
-
3Gain-
MLH3p.N674Ifs*6
Frame_Shift_Del
DEL
0.579
2--
MLLT3p.R298Gfs*19
Frame_Shift_Del
DEL
0.550
3Gain-
MLNRp.T410M
Missense
SNP
0.418
2--
MLXIPp.D180Rfs*34
Frame_Shift_Ins
INS
0.322
2--
MLXIPLp.R307C
Missense
SNP
0.360
2--
MMP2p.L397P
Missense
SNP
0.541
2--
MN1p.P271L
Missense
SNP
0.525
2--
MNX1p.R268W
Missense
SNP
0.489
2--
MOB3B-
-
-
-
3Gain-
MOBPp.R164H
Missense
SNP
0.488
2--
MORN5-
-
-
-
3Gain-
MPDZp.S1023N
Missense
SNP
0.712
3Gain-
MPP2p.A541V
Missense
SNP
0.655
2--
MPP3p.A15V
Missense
SNP
0.400
2--
MPPED2p.T212I
Missense
SNP
0.593
2--
MROH1-
-
-
-
3Gain-
MROH2Ap.E1462D
Missense
SNP
0.513
2--
MROH2Bp.N342D
Missense
SNP
0.471
2--
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL28-
-
-
-
1Loss-
MRPL41-
-
-
-
3Gain-
MRPL50-
-
-
-
3Gain-
MRPL9p.R69Pfs*13
Frame_Shift_Ins
INS
0.230
2--
MRPS2-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSH3p.K383Rfs*32
Frame_Shift_Del
DEL
0.462
2--
MSMP-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTUS2p.L105P
Missense
SNP
0.485
2--
MUC17p.T1152I
p.T2499A
Missense
Missense
SNP
SNP
0.525
0.432
2--
MUC21p.T143P
Missense
SNP
0.427
2--
MUC4p.R4389Q
p.P1712H
Missense
Missense
SNP
SNP
0.577
0.275
2--
MUC5ACp.E5060*
p.G5514C
Nonsense
Missense
SNP
SNP
0.437
0.424
2--
MUC5Bp.T2982M
Missense
SNP
0.492
2--
MUM1p.S54Afs*7
Frame_Shift_Del
DEL
0.502
2--
MUSK-
-
-
-
3Gain-
MVB12B-
-
-
-
3Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.458
2--
MYC-
-
-
-
3Gain-
MYH13p.L1196P
Missense
SNP
0.549
2--
MYH14p.Q192*
Nonsense
SNP
0.535
2--
MYH8p.L946Rfs*3
p.Q1187P
Frame_Shift_Del
Missense
DEL
SNP
0.731
0.456
2--
MYMK-
-
-
-
3Gain-
MYO10p.S1226Lfs*25
Frame_Shift_Ins
INS
0.275
2--
MYO15Ap.Y322Tfs*122
Frame_Shift_Del
DEL
0.446
2--
MYO18Bp.S2331L
Missense
SNP
0.461
2--
MYO7Ap.E1706V
Missense
SNP
0.411
2--
MYOM2p.G516S
Missense
SNP
0.492
2--
MYORG-
-
-
-
3Gain-
MYPNp.Q240P
Missense
SNP
0.433
2--
MYPOPp.P380Hfs*26
Frame_Shift_Del
DEL
0.471
2--
NAA35p.E201D
Missense
SNP
0.513
3Gain-
NAALAD2p.P648L
Missense
SNP
0.447
2--
NAALADL1p.R198H
Missense
SNP
0.500
2--
NACC2-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT6p.L125I
Missense
SNP
0.511
NDND-
NAV3p.D810V
Missense
SNP
0.312
2--
NBASp.Y516H
Missense
SNP
0.421
2--
NBNp.K320T
Missense
SNP
0.482
2--
NBPF6p.R515*
Nonsense
SNP
1.000
2--
NCAM1p.T631M
Missense
SNP
0.505
2--
NCBP1-
-
-
-
3Gain-
NCDNp.G383V
Missense
SNP
0.264
2--
NCKAP5p.T1018P
Missense
SNP
0.375
2--
NCOA6p.R969W
Missense
SNP
0.573
2--
NCOR1p.K528Rfs*7
Frame_Shift_Del
DEL
0.467
2--
NCS1-
-
-
-
3Gain-
NDNp.P92L
Missense
SNP
0.541
2--
NDOR1-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDUFA10p.H202Pfs*25
Frame_Shift_Ins
INS
0.305
2--
NDUFA8-
-
-
-
3Gain-
NDUFB10p.E74del
In_Frame_Del
DEL
0.394
2--
NDUFB6-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NEBp.X7888_splice
Splice_Site
SNP
0.549
2--
NEK6-
-
-
-
3Gain-
NEK8p.R275W
Missense
SNP
0.482
2--
NELFB-
-
-
-
3Gain-
NEURL1p.N163Kfs*2
Frame_Shift_Ins
INS
0.321
2--
NEURL4p.P220H
Missense
SNP
0.484
2--
NFIB-
-
-
-
3Gain-
NFIL3-
-
-
-
3Gain-
NFKBIBp.L292I
Missense
SNP
0.516
2--
NFX1-
-
-
-
3Gain-
NGEFp.R354H
Missense
SNP
0.552
2--
NGRNp.V27Wfs*31
Frame_Shift_Del
DEL
0.515
2--
NIFKp.R287Dfs*23
Frame_Shift_Del
DEL
0.471
2--
NINp.L1963P
Missense
SNP
0.379
2--
NINJ1-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NKAPLp.M391I
Missense
SNP
0.443
2--
NKX2-2p.D124Gfs*186
Frame_Shift_Ins
INS
0.248
2--
NKX6-1p.S49Pfs*24
Frame_Shift_Del
DEL
0.418
2--
NLRP9p.K264Rfs*12
Frame_Shift_Del
DEL
0.490
2--
NME4-
-
-
-
1Loss-
NMRAL1-
-
-
-
2-NMRAL1--RNA5-8SN2
NMRK1-
-
-
-
3Gain-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOS1p.G676Afs*64
Frame_Shift_Del
DEL
0.490
2--
NOS3p.R1154H
Missense
SNP
0.500
2--
NOTCH1-
-
-
-
3Gain-
NOTCH4p.T350Hfs*4
Frame_Shift_Ins
INS
0.238
2--
NOV-
-
-
-
3Gain-
NOXA1-
-
-
-
3Gain-
NPAP1p.C607*
Nonsense
SNP
0.483
2--
NPDC1-
-
-
-
3Gain-
NPHP4p.A578T
Missense
SNP
0.531
2--
NPR2-
-
-
-
3Gain-
NPSR1p.Y219C
Missense
SNP
0.438
2--
NPY2Rp.L305H
Missense
SNP
0.475
2--
NR1I2p.G178R
Missense
SNP
0.543
2--
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRARP-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRG1p.I323L
Missense
SNP
0.442
2--
NSMCE2-
-
-
-
3Gain-
NSMF-
-
-
-
3Gain-
NT5C1Bp.Q218K
Missense
SNP
0.409
2--
NTMT1-
-
-
-
3Gain-
NTNG2p.A343T
Missense
SNP
0.272
3Gain-
NTRK1p.R104C
Missense
SNP
0.400
2--
NTRK2p.G427S
Missense
SNP
0.538
3Gain-
NTRK3p.T283M
Missense
SNP
0.593
2--
NUDT2-
-
-
-
3Gain-
NUP188-
-
-
-
3Gain-
NUP214-
-
-
-
3Gain-
NUP85p.M142T
Missense
SNP
0.377
2--
NUP98p.P1201H
Missense
SNP
0.480
2--
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NWD2p.W1259Gfs*22
Frame_Shift_Del
DEL
0.534
2--
NXNL2-
-
-
-
3Gain-
NXPE1p.F134Sfs*10
Frame_Shift_Del
DEL
0.640
2--
OBFC1p.G278Dfs*16
Frame_Shift_Del
DEL
0.619
NDND-
OBP2A-
-
-
-
3Gain-
OBP2B-
-
-
-
3Gain-
OBSCNp.D4537Tfs*5
p.A7950Pfs*79
p.M2505T
p.F5226S
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
DEL
DEL
SNP
SNP
0.348
0.430
0.368
0.469
2--
OC90-
-
-
-
3Gain-
ODF2p.T710A
Missense
SNP
0.133
3Gain-
ODF3L2p.R218Pfs*33
Frame_Shift_Del
DEL
0.562
2--
OGN-
-
-
-
3Gain-
OLFM1-
-
-
-
3Gain-
OLFM2p.V357A
Missense
SNP
0.475
2--
OLFML2A-
-
-
-
3Gain-
OLIG2p.A209V
Missense
SNP
0.737
2--
OMD-
-
-
-
3Gain-
OPLAHp.G60D
Missense
SNP
0.362
3Gain-
OPTNp.H26Tfs*19
Frame_Shift_Del
DEL
0.526
2--
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8p.Y132C
Missense
SNP
0.384
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13J1-
-
-
-
3Gain-
OR1B1-
-
-
-
3Gain-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR1S1p.I268T
Missense
SNP
0.211
2--
OR2B6p.N155I
Missense
SNP
0.500
2--
OR2K2-
-
-
-
3Gain-
OR2S2p.A4Pfs*7
Frame_Shift_Del
DEL
0.349
3Gain-
OR2T33p.F59V
Missense
SNP
0.625
2--
OR4E2p.Y123C
Missense
SNP
0.539
2--
OR51I2p.Q47*
Nonsense
SNP
0.458
2--
OR5C1-
-
-
-
3Gain-
OR5H15p.L61S
Missense
SNP
0.298
2--
OR5H2p.V45M
Missense
SNP
0.510
2--
OR5M9p.V23A
Missense
SNP
0.257
2--
OR5V1p.S91Afs*18
p.F178L
Frame_Shift_Del
Missense
DEL
SNP
0.394
0.527
2--
OR6C75p.L200*
Frame_Shift_Del
DEL
0.478
2--
OR6K6p.F279Lfs*9
Frame_Shift_Del
DEL
0.396
2--
OR7C1p.F104Sfs*12
Frame_Shift_Del
DEL
0.439
2--
OR7C2p.C179Vfs*7
Frame_Shift_Del
DEL
0.415
2--
OR8D4p.F104Sfs*48
Frame_Shift_Del
DEL
0.422
2--
OR8J2p.F62Sfs*73
Frame_Shift_Del
DEL
0.500
NDND-
OR8U1p.T106A
Missense
SNP
0.413
2--
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
OSBPL1Ap.K894Nfs*71
Frame_Shift_Del
DEL
0.469
2--
OSTF1-
-
-
-
3Gain-
OTOGLp.Y1637H
Missense
SNP
0.448
2--
OTUD4p.Q1047*
Nonsense
SNP
0.521
2--
OTUD7Ap.A730T
Missense
SNP
0.765
2--
P2RX2p.R218H
Missense
SNP
0.511
2--
PAEP-
-
-
-
3Gain-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2p.Q569R
Missense
SNP
0.225
3Gain-
PAPPA-
-
-
-
3Gain-
PARLp.F330Lfs*23
Frame_Shift_Del
DEL
0.315
2--
PARNp.R505Q
Missense
SNP
0.383
2--
PARP10p.L80P
Missense
SNP
0.306
3Gain-
PAX5-
-
-
-
3Gain-
PAXBP1p.K231Sfs*43
Frame_Shift_Del
DEL
0.461
2--
PAXX-
-
-
-
3Gain-
PBDC1p.E14Gfs*21
Frame_Shift_Ins
INS
0.492
NDND-
PBX3-
-
-
-
3Gain-
PCDH11Yp.N405Y
Missense
SNP
1.000
NDND-
PCDH12p.X993_splice
Splice_Site
SNP
0.292
2--
PCDH17p.R646H
Missense
SNP
0.464
2--
PCDHA7p.C68Y
p.A512V
Missense
Missense
SNP
SNP
0.391
0.440
2--
PCDHAC2p.R212H
Missense
SNP
0.547
2--
PCDHB5p.R535H
Missense
SNP
0.240
2--
PCDHGA4p.C733Y
Missense
SNP
0.539
2--
PCDHGB6p.G571S
Missense
SNP
0.538
2--
PCED1Ap.P424Afs*57
Frame_Shift_Ins
INS
0.306
2--
PCF11p.E1410*
Frame_Shift_Ins
INS
0.356
2--
PCGF2p.M55T
Missense
SNP
0.459
2--
PCLOp.K5063Rfs*2
p.T4442I
Frame_Shift_Del
Missense
DEL
SNP
0.381
0.500
2--
PCSK1p.Y729Ifs*21
Frame_Shift_Del
DEL
0.545
2--
PCSK5-
-
-
-
3Gain-
PCSK9p.X267_splice
Splice_Site
SNP
0.667
2--
PDCD1LG2-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDGFDp.R262K
Missense
SNP
0.455
2--
PDIA2-
-
-
-
1Loss-
PDIA5p.P386Rfs*26
Frame_Shift_Del
DEL
0.429
2--
PDILTp.A345T
Missense
SNP
0.542
2--
PDLIM2p.R556H
Missense
SNP
0.627
2--
PDZD2p.K104Qfs*38
Frame_Shift_Ins
INS
0.283
2--
PEBP4p.A84T
Missense
SNP
0.655
2--
PEX26p.I199T
Missense
SNP
0.567
2--
PEX3p.N95Tfs*7
Frame_Shift_Del
DEL
0.529
2--
PFKFB2p.R60H
Missense
SNP
0.400
2--
PFN4p.G128Efs*38
Frame_Shift_Del
DEL
0.667
2--
PGGT1Bp.S241Ffs*25
Frame_Shift_Ins
INS
0.368
2--
PGK2p.G187R
Missense
SNP
0.427
2--
PGM5-
-
-
-
3Gain-
PGRp.K73M
Missense
SNP
0.531
2--
PHF12p.L990Qfs*60
Frame_Shift_Del
DEL
0.438
2--
PHF19-
-
-
-
3Gain-
PHF2p.K492Rfs*6
Frame_Shift_Del
DEL
0.309
3Gain-
PHF20L1p.N322Mfs*42
Frame_Shift_Del
DEL
0.329
3Gain-
PHF24-
-
-
-
3Gain-
PHLDA1p.M256V
Missense
SNP
0.505
2--
PHPT1-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PIBF1p.R469C
Missense
SNP
0.667
2--
PIEZO1p.W1717L
Missense
SNP
0.531
2--
PIEZO2p.F248Lfs*36
p.F182L
Frame_Shift_Del
Missense
DEL
SNP
0.408
0.508
2--
PIGKp.W364*
Nonsense
SNP
0.509
2--
PIGOp.T788Lfs*25
Frame_Shift_Del
DEL
0.346
3Gain-
PIK3CAp.E545A
Missense
SNP
0.452
2--
PIKFYVEp.P1480S
Missense
SNP
0.506
2--
PIP4K2Ap.E299G
Missense
SNP
0.440
2--
PIP5K1B-
-
-
-
3Gain-
PIP5KL1-
-
-
-
3Gain-
PKD1L1p.P780Lfs*4
Frame_Shift_Del
DEL
0.457
2--
PKD1L3p.I1369Nfs*8
Frame_Shift_Ins
INS
0.333
2--
PKHD1L1p.A894V
Missense
SNP
0.535
2--
PKN2p.L720Wfs*2
Frame_Shift_Del
DEL
0.548
2--
PKN3-
-
-
-
3Gain-
PLA2G3p.Q495R
Missense
SNP
0.450
2--
PLA2G4Cp.E47D
Missense
SNP
0.471
2--
PLA2R1p.G1374Afs*32
Frame_Shift_Del
DEL
0.530
2--
PLAA-
-
-
-
3Gain-
PLBD2p.Q498Sfs*36
Frame_Shift_Del
DEL
0.423
2--
PLCB3p.D96G
Missense
SNP
0.548
2--
PLEC-
-
-
-
3Gain-
PLEK2p.P233H
Missense
SNP
0.521
2--
PLEKHA1-
-
-
-
1Loss-
PLEKHA7p.F802Sfs*21
Frame_Shift_Del
DEL
0.400
2--
PLEKHG1p.P585T
Missense
SNP
0.582
2--
PLEKHG3p.E740*
Nonsense
SNP
0.512
2--
PLEKHG4Bp.R1269C
Missense
SNP
0.757
2--
PLEKHH1p.R979H
Missense
SNP
0.537
2--
PLEKHH2p.E224D
Missense
SNP
0.515
2--
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLPP2p.R145K
Missense
SNP
0.477
2--
PLPP6-
-
-
-
3Gain-
PLPP7-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLXNA1p.T1615A
Missense
SNP
0.453
2--
PLXNA3p.X1196_splice
Splice_Site
SNP
1.000
NDND-
PMPCA-
-
-
-
3Gain-
PNPLA6p.T1305Rfs*17
p.R499H
Frame_Shift_Del
Missense
DEL
SNP
0.492
0.523
2--
PNPLA7p.I1200Sfs*148
Frame_Shift_Del
DEL
0.253
3Gain-
POLD3p.R300Kfs*9
Frame_Shift_Ins
INS
0.301
2--
POLEp.K1926N
Missense
SNP
0.440
2--
POLE3-
-
-
-
3Gain-
POLR1Ap.D1691N
p.A608T
Missense
Missense
SNP
SNP
0.543
0.562
2--
POLR1E-
-
-
-
3Gain-
POLR2Ap.P1806Lfs*108
Frame_Shift_Del
DEL
0.466
2--
POLR3Gp.M145Wfs*90
Frame_Shift_Del
DEL
0.516
2--
POMT1-
-
-
-
3Gain-
POTEFp.R728Gfs*16
Frame_Shift_Del
DEL
0.485
2--
POU3F3p.D66Tfs*26
Frame_Shift_Del
DEL
0.505
2--
POU5F1p.I184V
Missense
SNP
0.442
2--
POU5F1B-
-
-
-
3Gain-
PPFIA2p.R1112*
Nonsense
SNP
0.400
2--
PPM1Lp.R14H
Missense
SNP
0.442
2--
PPP1R16A-
-
-
-
3Gain-
PPP1R1Cp.I35S
Missense
SNP
0.458
2--
PPP1R26p.V898Sfs*56
Frame_Shift_Del
DEL
0.256
3Gain-
PPP2R5Bp.F175S
Missense
SNP
0.406
2--
PPP3R2-
-
-
-
3Gain-
PPP6C-
-
-
-
3Gain-
PPT1p.M57Wfs*14
Frame_Shift_Del
DEL
0.529
2--
PPWD1p.H522R
Missense
SNP
0.485
2--
PRDM12-
-
-
-
3Gain-
PRKACG-
-
-
-
3Gain-
PRKAR2Ap.N142Kfs*3
Frame_Shift_Ins
INS
0.395
2--
PRKCAp.K559Nfs*14
Frame_Shift_Del
DEL
0.495
2--
PRKDCp.R2143H
Missense
SNP
0.250
2--
PRMT9p.H244Tfs*43
Frame_Shift_Ins
INS
0.289
2--
PROX2p.L253R
Missense
SNP
0.631
2--
PRPF4-
-
-
-
3Gain-
PRR32p.R201*
Nonsense
SNP
1.000
NDND-
PRRC2B-
-
-
-
3Gain-
PRRC2Cp.A1730T
Missense
SNP
0.490
2--
PRRT1B-
-
-
-
3Gain-
PRRT2p.A320T
Missense
SNP
0.500
2--
PRRX2-
-
-
-
3Gain-
PRSS21p.S238P
Missense
SNP
0.638
2--
PRSS3-
-
-
-
3Gain-
PRSS53p.G380Afs*13
Frame_Shift_Del
DEL
0.412
2--
PRUNE2-
-
-
-
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAT1-
-
-
-
3Gain-
PSCAp.S51N
Missense
SNP
0.647
3Gain-
PSD4p.T777A
Missense
SNP
0.505
2--
PSEN1p.S178Ffs*10
Frame_Shift_Ins
INS
0.357
2--
PSG6p.M240V
Missense
SNP
0.463
2--
PSIP1-
-
-
-
3Gain-
PSMB7-
-
-
-
3Gain-
PSMB9p.D71G
Missense
SNP
0.523
2--
PSMD5-
-
-
-
3Gain-
PSME4p.T1805Pfs*69
Frame_Shift_Del
DEL
0.424
2--
PTAR1-
-
-
-
3Gain-
PTBP3-
-
-
-
3Gain-
PTCH1p.V674Gfs*19
Frame_Shift_Del
DEL
0.402
3Gain-
PTGDS-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGR1-
-
-
-
3Gain-
PTGS1-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN21p.I849Lfs*9
Frame_Shift_Del
DEL
0.516
2--
PTPN3-
-
-
-
3Gain-
PTPRD-
-
-
-
3Gain-
PTPREp.R431G
Missense
SNP
0.528
2--
PTPRFp.Q1762*
Nonsense
SNP
0.472
2--
PTPRGp.N119Tfs*10
Frame_Shift_Del
DEL
0.432
2--
PTPRN2p.V133I
Missense
SNP
0.490
2--
PTPROp.L481F
Missense
SNP
0.550
2--
PTPRQp.G130D
Missense
SNP
0.395
2--
PTRH1-
-
-
-
3Gain-
PTX3p.Y379N
Missense
SNP
0.462
2--
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
3Gain-
PUS7p.N333Tfs*3
Frame_Shift_Del
DEL
0.424
2--
PWWP2B-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
QKIp.Y328H
Missense
SNP
0.382
2--
QRFP-
-
-
-
3Gain-
QSOX2-
-
-
-
3Gain-
RAB11Bp.L38M
Missense
SNP
0.494
2--
RAB14-
-
-
-
3Gain-
RAB21p.V23L
Missense
SNP
0.467
2--
RAB36p.K122Nfs*77
Frame_Shift_Del
DEL
0.500
2--
RAB42p.G81Vfs*119
Frame_Shift_Del
DEL
0.442
2--
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABL6-
-
-
-
3Gain-
RAD21-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RALGAPA1p.P896H
Missense
SNP
0.341
2--
RALGDS-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RAPGEF1-
-
-
-
3Gain-
RAPGEF2p.L1317R
Missense
SNP
0.532
2--
RAPGEF6p.S1373G
Missense
SNP
0.490
2--
RARRES1p.H102Q
Missense
SNP
0.482
2--
RASAL3p.A771P
Missense
SNP
0.500
2--
RASEF-
-
-
-
3Gain-
RASGRP4p.N381S
Missense
SNP
0.429
2--
RASIP1p.R70W
Missense
SNP
0.433
2--
RASL10Ap.R110H
Missense
SNP
0.500
2--
RBBP8p.K357Nfs*3
Frame_Shift_Del
DEL
0.370
2--
RBM12p.K637R
Missense
SNP
0.435
2--
RBM18-
-
-
-
3Gain-
RBM20p.A29V
Missense
SNP
0.654
2--
RBM47p.G61S
Missense
SNP
0.535
2--
RBP3p.Q627H
Missense
SNP
0.585
2--
RC3H2-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RCN3p.Y125H
Missense
SNP
0.459
2--
RECK-
-
-
-
3Gain-
RECQLp.V41Sfs*2
Frame_Shift_Del
DEL
0.429
2--
RECQL4-
-
-
-
3Gain-
REXO4-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFX3p.Q518H
Missense
SNP
0.661
3Gain-
RGP1-
-
-
-
3Gain-
RGS11-
-
-
-
1Loss-
RGS12p.G1291Rfs*45
Frame_Shift_Ins
INS
0.258
2--
RGS22p.K518T
Missense
SNP
0.447
2--
RGS3-
-
-
-
3Gain-
RGS9BPp.G205Vfs*23
Frame_Shift_Del
DEL
0.415
2--
RHCEp.V32Dfs*9
p.L387H
Frame_Shift_Ins
Missense
INS
SNP
0.256
0.570
2--
RHOBp.R70W
Missense
SNP
0.497
2--
RHOUp.N210Tfs*34
Frame_Shift_Del
DEL
0.449
2--
RHPN1-
-
-
-
3Gain-
RIC1p.L1156*
Frame_Shift_Del
DEL
0.586
3Gain-
RIMS1p.R8H
Missense
SNP
0.429
2--
RIMS2p.H303N
Missense
SNP
0.510
2--
RIN2p.P626H
Missense
SNP
0.489
2--
RINT1p.N109Mfs*28
Frame_Shift_Del
DEL
0.463
2--
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMI1-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDNMRAL1--RNA5-8SN2
RNF103p.K670Sfs*27
Frame_Shift_Del
DEL
0.444
2--
RNF113Bp.R67Gfs*88
Frame_Shift_Del
DEL
0.482
2--
RNF123p.S711R
Missense
SNP
0.477
2--
RNF139-
-
-
-
3Gain-
RNF17p.K605N
Missense
SNP
0.541
2--
RNF183-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF208-
-
-
-
3Gain-
RNF216p.R526C
Missense
SNP
0.553
2--
RNF224-
-
-
-
3Gain-
RNF38-
-
-
-
3Gain-
RNF43p.P370Hfs*49
p.R117Afs*41
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.443
0.383
2--
RNGTTp.K555R
Missense
SNP
0.516
2--
ROCK1p.K1307Nfs*3
Frame_Shift_Del
DEL
0.319
2--
ROR2-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
ROS1p.L1167*
Frame_Shift_Del
DEL
0.471
2--
RP1p.G461S
Missense
SNP
0.534
2--
RP11-656G20.1.
Splice_Site
SNP
0.476
NDND-
RP11-766F14.2p.Q354H
Missense
SNP
0.408
NDND-
RP1L1p.G290D
Missense
SNP
0.411
2--
RPE65p.N356Mfs*17
Frame_Shift_Del
DEL
0.422
2--
RPL12p.V42Lfs*15
Frame_Shift_Del
DEL
0.246
3Gain-
RPL14P1-
-
-
-
NDNDATXN8OS--RPL14P1
RPL17-
-
-
-
2-RPL17--RPL17P12
RPL17P12-
-
-
-
NDNDRPL17--RPL17P12
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.970
2--
RPL23Ap.L25R
Missense
SNP
0.486
2--
RPL35-
-
-
-
3Gain-
RPL7A-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP0p.V237A
Missense
SNP
0.463
2--
RPP25L-
-
-
-
3Gain-
RPS18p.H11Y
Missense
SNP
0.525
2--
RPS6-
-
-
-
3Gain-
RRAGA-
-
-
-
3Gain-
RRP12p.C326R
Missense
SNP
0.667
2--
RRP9p.E70del
In_Frame_Del
DEL
0.506
2--
RSBN1Lp.K214Rfs*5
Frame_Shift_Del
DEL
0.542
2--
RSPH9p.R241S
Missense
SNP
0.571
2--
RSPRY1p.R351C
Missense
SNP
0.174
2--
RSRP1p.Y105H
Missense
SNP
0.484
2--
RTCBp.M246Nfs*6
Frame_Shift_Ins
INS
0.295
2--
RTKN2p.I450Lfs*67
Frame_Shift_Del
DEL
0.435
2--
RTL1p.R835W
Missense
SNP
0.500
2--
RUSC2-
-
-
-
3Gain-
RXFP3p.R406H
Missense
SNP
0.588
2--
RXRA-
-
-
-
3Gain-
RYR1p.R177C
p.V4153A
Missense
Missense
SNP
SNP
0.422
0.422
2--
RYR3p.K799R
Missense
SNP
0.548
2--
S1PR3-
-
-
-
3Gain-
SACSp.R3785Kfs*25
Frame_Shift_Ins
INS
0.313
2--
SALL2p.A55T
Missense
SNP
0.559
2--
SAMD12-
-
-
-
3Gain-
SAP130p.V823G
Missense
SNP
0.463
2--
SAPCD2-
-
-
-
3Gain-
SARDH-
-
-
-
3Gain-
SARS2p.R342Gfs*17
Frame_Shift_Del
DEL
0.495
2--
SAXO1-
-
-
-
3Gain-
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.483
2--
SCAF8p.L1062*
Frame_Shift_Del
DEL
0.517
2--
SCAI-
-
-
-
3Gain-
SCLT1p.A541Pfs*3
p.A424Qfs*6
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.219
0.395
2--
SCN1Ap.L331*
p.A104T
Frame_Shift_Del
Missense
DEL
SNP
0.600
0.567
2--
SCN2Ap.K496N
p.A1809V
Missense
Missense
SNP
SNP
0.457
0.427
2--
SCN5Ap.A185T
Missense
SNP
0.507
2--
SCRIBp.P1096Rfs*44
Frame_Shift_Del
DEL
0.328
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDAD1p.L187P
Missense
SNP
0.600
2--
SEC16A-
-
-
-
3Gain-
SEC22Bp.A184T
Missense
SNP
0.536
2--
SEC24Cp.Q459Sfs*32
Frame_Shift_Del
DEL
0.500
2--
SEC61A2p.N241S
Missense
SNP
0.488
2--
SEC61Bp.M55Cfs*22
Frame_Shift_Del
DEL
0.381
3Gain-
SECISBP2-
-
-
-
3Gain-
SEMA4Cp.A258T
Missense
SNP
0.500
2--
SEMA4D-
-
-
-
3Gain-
SEMA6Ap.A859T
Missense
SNP
0.553
2--
SEMA6Bp.R276Afs*11
Frame_Shift_Del
DEL
0.422
2--
SERPINA11p.R314M
Missense
SNP
0.442
2--
SERPINB1p.M347V
Missense
SNP
0.506
2--
SERTAD3p.T104A
Missense
SNP
0.630
2--
SETp.T169A
Missense
SNP
0.258
3Gain-
SETD3p.A478Qfs*2
Frame_Shift_Del
DEL
0.487
2--
SETD6p.F195S
Missense
SNP
0.485
2--
SETX-
-
-
-
3Gain-
SGK1p.K433R
Missense
SNP
0.532
2--
SH2D3Ap.A389T
Missense
SNP
0.605
2--
SH2D3C-
-
-
-
3Gain-
SH3BP4p.S507G
Missense
SNP
0.483
2--
SH3GL2p.R65S
Missense
SNP
0.110
3Gain-
SH3GLB2-
-
-
-
3Gain-
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
3Gain-
SHC1p.P31Rfs*35
Frame_Shift_Del
DEL
0.494
2--
SHC3p.V475M
Missense
SNP
0.243
3Gain-
SHHp.F377S
Missense
SNP
0.500
2--
SHPKp.I178T
Missense
SNP
0.576
2--
SHQ1p.X70_splice
Splice_Site
SNP
0.487
2--
SHROOM1p.A724V
Missense
SNP
0.508
2--
SIAH3p.G96E
Missense
SNP
0.456
2--
SIGMAR1-
-
-
-
3Gain-
SIPA1L2p.C1054Afs*194
Frame_Shift_Del
DEL
0.425
2--
SIRPAp.V152Rfs*39
Frame_Shift_Ins
INS
0.275
2--
SIRT7p.M150T
Missense
SNP
0.478
2--
SIT1-
-
-
-
3Gain-
SKIV2Lp.X826_splice
Splice_Site
SNP
0.525
2--
SLA-
-
-
-
3Gain-
SLC11A2p.F240Lfs*19
Frame_Shift_Del
DEL
0.545
2--
SLC12A5p.A13Qfs*161
Frame_Shift_Del
DEL
0.565
2--
SLC12A8p.X131_splice
Splice_Site
SNP
0.436
2--
SLC14A2p.A838S
Missense
SNP
0.559
2--
SLC16A1p.Y293C
Missense
SNP
0.518
2--
SLC16A12p.F73Lfs*22
Frame_Shift_Del
DEL
0.566
2--
SLC17A2p.M121Cfs*7
Frame_Shift_Del
DEL
0.389
2--
SLC1A1-
-
-
-
3Gain-
SLC22A4p.F507Sfs*7
Frame_Shift_Del
DEL
0.434
2--
SLC22A8p.K419N
Missense
SNP
0.425
2--
SLC23A2p.L494I
Missense
SNP
0.457
2--
SLC24A1p.E109A
Missense
SNP
0.496
2--
SLC24A2-
-
-
-
3Gain-
SLC24A5p.A238V
Missense
SNP
0.277
2--
SLC25A25-
-
-
-
3Gain-
SLC25A26p.C185Y
Missense
SNP
0.514
2--
SLC25A51-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC2A1p.D240G
Missense
SNP
0.459
2--
SLC2A6-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A3p.H205Tfs*260
Frame_Shift_Del
DEL
0.319
2--
SLC30A8-
-
-
-
3Gain-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC34A3-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC38A4p.K144R
Missense
SNP
0.556
2--
SLC39A4-
-
-
-
3Gain-
SLC44A1-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC46A2p.G49R
Missense
SNP
0.589
3Gain-
SLC4A5p.N292Tfs*4
p.D873G
Frame_Shift_Del
Missense
DEL
SNP
0.419
0.443
2--
SLC52A2-
-
-
-
3Gain-
SLC6A6p.L413P
Missense
SNP
0.543
2--
SLC9A5p.R270C
Missense
SNP
0.538
2--
SLC9A8p.S65N
Missense
SNP
0.279
2--
SLITRK2p.P690Hfs*20
Frame_Shift_Del
DEL
0.803
NDND-
SLTMp.S364P
Missense
SNP
0.316
2--
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4p.P469Hfs*4
Frame_Shift_Del
DEL
0.447
2--
SMARCA2-
-
-
-
3Gain-
SMC2p.T876I
Missense
SNP
0.391
3Gain-
SMC4p.K855Sfs*5
Frame_Shift_Del
DEL
0.400
2--
SMC5p.I140V
Missense
SNP
0.140
3Gain-
SMCR8p.R805H
Missense
SNP
0.519
2--
SMG1p.P2421L
Missense
SNP
0.579
2--
SMG7p.M803*
Frame_Shift_Del
DEL
0.449
2--
SMIM27-
-
-
-
3Gain-
SMOp.P694Lfs*82
Frame_Shift_Del
DEL
0.440
2--
SMPD2p.D418Tfs*?
Frame_Shift_Del
DEL
0.565
2--
SMPD4p.R736W
Missense
SNP
0.548
2--
SMU1-
-
-
-
3Gain-
SNAI3p.N17Tfs*92
p.A254V
Frame_Shift_Del
Missense
DEL
SNP
0.456
0.481
2--
SNAPC3-
-
-
-
3Gain-
SNAPC4-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG2p.Q16*
Nonsense
SNP
0.520
2--
SNX30-
-
-
-
3Gain-
SNX32p.X125_splice
Splice_Site
SNP
0.489
2--
SOHLH1-
-
-
-
3Gain-
SOX5p.Y677C
Missense
SNP
0.488
2--
SP7p.F95L
Missense
SNP
0.494
2--
SP8p.G464del
In_Frame_Del
DEL
0.250
2--
SPAAR-
-
-
-
3Gain-
SPACA9-
-
-
-
3Gain-
SPAG8-
-
-
-
3Gain-
SPATA31A1p.A982T
Missense
SNP
0.574
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPECC1p.N303Tfs*63
Frame_Shift_Del
DEL
0.491
2--
SPEGp.R2315Gfs*38
Frame_Shift_Del
DEL
0.504
2--
SPENp.P2055Lfs*9
p.V489I
Frame_Shift_Del
Missense
DEL
SNP
0.456
0.607
2--
SPESP1p.A9V
Missense
SNP
0.431
2--
SPG11p.C526R
Missense
SNP
0.413
2--
SPG7p.T98A
Missense
SNP
0.491
2--
SPHK1p.S449G
Missense
SNP
0.406
2--
SPHKAPp.S50N
Missense
SNP
0.444
2--
SPIN1-
-
-
-
3Gain-
SPINK4-
-
-
-
3Gain-
SPIRE2p.P429L
Missense
SNP
0.530
2--
SPOUT1-
-
-
-
3Gain-
SPRTNp.G222Afs*7
Frame_Shift_Del
DEL
0.489
2--
SPTAN1-
-
-
-
3Gain-
SPTBN2p.R1056H
p.M136T
Missense
Missense
SNP
SNP
0.550
0.440
2--
SPTLC1-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRCAPp.P1878Hfs*89
Frame_Shift_Del
DEL
0.453
2--
SRCIN1p.S434L
Missense
SNP
0.380
2--
SREBF1p.S460Rfs*268
p.A173Gfs*190
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.394
0.313
2--
SRPK1p.I192N
Missense
SNP
0.414
2--
SRRDp.L73R
Missense
SNP
0.565
2--
SRSF2p.P7Lfs*7
Frame_Shift_Del
DEL
0.492
2--
SSBp.N193Mfs*13
Frame_Shift_Del
DEL
0.400
2--
SSNA1-
-
-
-
3Gain-
SSTR5p.A199T
Missense
SNP
0.079
2--
ST3GAL1-
-
-
-
3Gain-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST8SIA6p.A252Pfs*53
Frame_Shift_Del
DEL
0.298
2--
STAB1p.P1458H
Missense
SNP
0.568
2--
STAMBPL1p.K405Rfs*21
Frame_Shift_Del
DEL
0.937
2--
STARD13p.V32A
Missense
SNP
0.411
2--
STILp.N75Ifs*10
Frame_Shift_Del
DEL
0.414
2--
STIM1p.K246N
Missense
SNP
0.500
2--
STK11IPp.P623T
Missense
SNP
0.571
2--
STKLD1-
-
-
-
3Gain-
STOM-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STPG3-
-
-
-
3Gain-
STRBP-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STXBP1-
-
-
-
3Gain-
SUN3p.K292Nfs*9
Frame_Shift_Del
DEL
0.561
2--
SUOXp.L10H
Missense
SNP
0.504
2--
SUPT6Hp.G439V
Missense
SNP
0.405
2--
SURF1-
-
-
-
3Gain-
SURF2-
-
-
-
3Gain-
SURF4-
-
-
-
3Gain-
SURF6-
-
-
-
3Gain-
SUSD1-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SVEP1p.L1338Wfs*45
p.K790Nfs*25
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.254
0.208
3Gain-
SWI5-
-
-
-
3Gain-
SYDE1p.G228S
Missense
SNP
0.548
2--
SYK-
-
-
-
3Gain-
SYN2p.P34Q
Missense
SNP
0.600
2--
SYNE2p.T6593Nfs*2
Frame_Shift_Ins
INS
0.297
2--
SYT7p.D321G
Missense
SNP
0.361
2--
TAC4p.A84Hfs*101
Frame_Shift_Del
DEL
0.569
2--
TACC2p.P2149Qfs*2
Frame_Shift_Del
DEL
0.345
2--
TACR1p.L74M
Missense
SNP
0.471
2--
TACR3p.D419G
p.V403M
p.A136T
Missense
Missense
Missense
SNP
SNP
SNP
0.560
0.460
0.500
2--
TAF1Bp.R447Efs*5
Frame_Shift_Del
DEL
0.376
2--
TAF1L-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TAS2R14p.M81Nfs*7
Frame_Shift_Ins
INS
0.328
2--
TATDN1-
-
-
-
3Gain-
TBC1D10Bp.I514T
p.R511W
Missense
Missense
SNP
SNP
0.450
0.535
2--
TBC1D13-
-
-
-
3Gain-
TBC1D2-
-
-
-
3Gain-
TBC1D3-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D3C-
-
-
-
1Loss-
TBC1D3D-
-
-
-
1Loss-
TBC1D3E-
-
-
-
1Loss-
TBC1D3K-
-
-
-
1Loss-
TBC1D3L-
-
-
-
1Loss-
TBC1D4p.R244H
Missense
SNP
0.450
2--
TBCA-
-
-
-
1Loss-
TCEA3p.X127_splice
Splice_Site
SNP
0.604
2--
TCERG1p.K957Rfs*17
Frame_Shift_Del
DEL
0.508
2--
TCF20p.L1943Cfs*118
Frame_Shift_Del
DEL
0.567
2--
TCL1Ap.E40K
Missense
SNP
0.542
2--
TDRD6p.G1467W
Missense
SNP
0.447
2--
TDRD7-
-
-
-
3Gain-
TEKp.I980*
Frame_Shift_Del
DEL
0.543
3Gain-
TENM3p.V139Sfs*19
p.R2086C
Frame_Shift_Del
Missense
DEL
SNP
0.525
0.472
2--
TENM4p.A195T
Missense
SNP
0.561
2--
TEP1p.S1036G
Missense
SNP
0.419
2--
TEPSINp.G452Afs*72
Frame_Shift_Del
DEL
0.495
2--
TESK1-
-
-
-
3Gain-
TEX10-
-
-
-
3Gain-
TEX14p.A467Sfs*11
Frame_Shift_Ins
INS
0.288
2--
TEX15p.A1007Lfs*12
Frame_Shift_Del
DEL
0.379
2--
TEX48-
-
-
-
3Gain-
TFAP2Dp.A119V
Missense
SNP
0.503
2--
TFGp.L49P
Missense
SNP
0.526
2--
TFIP11p.R346W
Missense
SNP
0.440
2--
TG-
-
-
-
3Gain-
TGFBR1-
-
-
-
3Gain-
TGFBR2p.K153Afs*3
Frame_Shift_Del
DEL
0.832
2--
TGFBRAP1p.A457T
Missense
SNP
0.484
2--
TGIF2LYp.P110L
Missense
SNP
0.994
NDND-
TGM6p.Q360Rfs*99
Frame_Shift_Del
DEL
0.542
2--
THEM6-
-
-
-
3Gain-
THOP1p.T261M
Missense
SNP
0.527
2--
THSD7Bp.P645Lfs*35
p.T782I
Frame_Shift_Del
Missense
DEL
SNP
0.339
0.382
2--
TIGD5-
-
-
-
3Gain-
TIMM17Bp.L122Pfs*56
Frame_Shift_Ins
INS
0.485
NDND-
TINAGL1p.X236_splice
Splice_Site
SNP
0.444
2--
TJP2-
-
-
-
3Gain-
TLE1-
-
-
-
3Gain-
TLE4-
-
-
-
3Gain-
TLN1-
-
-
-
3Gain-
TLR4-
-
-
-
3Gain-
TLR5p.F201Lfs*20
Frame_Shift_Del
DEL
0.500
2--
TM2D2p.P204S
Missense
SNP
0.578
2--
TMBIM4p.Y221Ifs*4
Frame_Shift_Del
DEL
0.390
2--
TMC1-
-
-
-
3Gain-
TMCC1p.F630Lfs*67
Frame_Shift_Del
DEL
0.535
2--
TMEFF1-
-
-
-
3Gain-
TMEM117p.A31V
Missense
SNP
0.465
2--
TMEM120Ap.M257T
Missense
SNP
0.513
2--
TMEM132Ap.A434Pfs*5
Frame_Shift_Del
DEL
0.565
2--
TMEM132Dp.W964R
Missense
SNP
0.558
2--
TMEM141-
-
-
-
3Gain-
TMEM143p.G261C
Missense
SNP
0.420
2--
TMEM144p.M313V
Missense
SNP
0.436
2--
TMEM185Bp.P341Lfs*4
Frame_Shift_Del
DEL
0.600
2--
TMEM201p.E288A
Missense
SNP
0.465
2--
TMEM203p.L88R
Missense
SNP
0.261
3Gain-
TMEM210-
-
-
-
3Gain-
TMEM215-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM250-
-
-
-
3Gain-
TMEM252-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74Bp.A167T
Missense
SNP
0.446
2--
TMEM8A-
-
-
-
1Loss-
TMEM8B-
-
-
-
3Gain-
TMEM97p.K176Nfs*188
Frame_Shift_Del
DEL
0.437
2--
TMOD1-
-
-
-
3Gain-
TMTC1p.S310Y
Missense
SNP
0.455
2--
TNC-
-
-
-
3Gain-
TNFAIP8p.L94M
Missense
SNP
0.463
2--
TNFRSF11B-
-
-
-
3Gain-
TNFSF10p.F275Lfs*5
Frame_Shift_Del
DEL
0.474
2--
TNFSF11p.L12M
Missense
SNP
0.591
2--
TNFSF14p.P155L
Missense
SNP
0.511
2--
TNFSF15-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNIKp.F1209Lfs*9
Frame_Shift_Del
DEL
0.481
2--
TNIP1p.K302del
In_Frame_Del
DEL
0.463
2--
TNK2p.R8Gfs*23
Frame_Shift_Del
DEL
0.397
2--
TNPO3p.M861V
Missense
SNP
0.333
2--
TOMM34p.S84I
Missense
SNP
0.559
2--
TOMM5-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOPAZ1p.A632Lfs*5
Frame_Shift_Del
DEL
0.500
2--
TOPORS-
-
-
-
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR4A-
-
-
-
3Gain-
TOXp.A317V
Missense
SNP
0.632
2--
TOX2p.Q173H
Missense
SNP
0.535
2--
TP53p.G244C
Missense
SNP
0.577
2--
TPD52L3-
-
-
-
3Gain-
TPM2-
-
-
-
3Gain-
TPRN-
-
-
-
3Gain-
TPSD1p.I87V
Missense
SNP
0.214
2--
TRAF1p.N379S
Missense
SNP
0.246
3Gain-
TRAF2p.P9Lfs*77
Frame_Shift_Del
DEL
0.242
3Gain-
TRANK1p.P972Qfs*12
p.R2388C
p.T405A
p.R396S
Frame_Shift_Del
Missense
Missense
Missense
DEL
SNP
SNP
SNP
0.500
0.523
0.561
0.508
2--
TRAPPC9-
-
-
-
3Gain-
TRERF1p.G490E
Missense
SNP
0.575
2--
TRIB1-
-
-
-
3Gain-
TRIM14-
-
-
-
3Gain-
TRIM15p.P436S
Missense
SNP
0.536
2--
TRIM26p.S436Kfs*8
Frame_Shift_Ins
INS
0.305
2--
TRIM32p.R540W
Missense
SNP
0.422
3Gain-
TRIM44p.R173Sfs*12
Frame_Shift_Del
DEL
0.426
2--
TRIM51p.M144Cfs*15
Frame_Shift_Del
DEL
0.456
2--
TRIOp.G2805D
Missense
SNP
0.386
2--
TRMO-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRPM2p.A177Pfs*6
p.A785Rfs*17
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.429
0.479
2--
TRPM3p.R1282C
Missense
SNP
0.570
3Gain-
TRPM6-
-
-
-
3Gain-
TRPS1-
-
-
-
3Gain-
TRPT1p.F210V
Missense
SNP
0.503
2--
TRUB2-
-
-
-
3Gain-
TSC1-
-
-
-
3Gain-
TSNARE1p.S141I
Missense
SNP
0.639
3Gain-
TSSK6p.A258V
Missense
SNP
0.478
2--
TSTA3-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTBK1p.G198E
Missense
SNP
0.424
2--
TTBK2p.W603R
Missense
SNP
0.526
2--
TTC13p.R119Efs*14
Frame_Shift_Del
DEL
0.431
2--
TTC16-
-
-
-
3Gain-
TTC39B-
-
-
-
3Gain-
TTF1-
-
-
-
3Gain-
TTI1p.A681T
Missense
SNP
0.438
2--
TTKp.R854Gfs*39
Frame_Shift_Del
DEL
0.423
2--
TTLL11-
-
-
-
3Gain-
TTLL12p.P189L
Missense
SNP
0.461
2--
TTLL3p.E371Rfs*44
Frame_Shift_Del
DEL
0.437
2--
TTNp.K13542Nfs*56
p.R12033Kfs*7
p.K22872R
p.R9840H
p.L2730R
p.K2452N
Frame_Shift_Del
Frame_Shift_Ins
Missense
Missense
Missense
Missense
DEL
INS
SNP
SNP
SNP
SNP
0.667
0.292
0.441
0.426
0.527
0.596
2--
TUBA1Ap.G10Wfs*30
Frame_Shift_Ins
INS
0.337
2--
TUBA3Dp.Q176Pfs*24
Frame_Shift_Ins
INS
0.278
2--
TUBB4B-
-
-
-
3Gain-
TULP4p.R403Afs*24
p.Q291R
Frame_Shift_Del
Missense
DEL
SNP
0.419
0.490
2--
TUSC1p.W211C
Missense
SNP
0.477
3Gain-
TUT1p.L115I
Missense
SNP
0.554
2--
TUT7-
-
-
-
3Gain-
TXN-
-
-
-
3Gain-
TXNDC8-
-
-
-
3Gain-
TYRP1-
-
-
-
3Gain-
UAP1L1-
-
-
-
3Gain-
UBA6p.F299Lfs*8
Frame_Shift_Del
DEL
0.344
2--
UBA7p.S38L
Missense
SNP
0.423
2--
UBAC1-
-
-
-
3Gain-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBE2R2-
-
-
-
3Gain-
UBE3Cp.Q600R
Missense
SNP
0.467
2--
UBE4Bp.A444Hfs*14
Frame_Shift_Del
DEL
0.344
2--
UBQLN1-
-
-
-
3Gain-
UBXN2Bp.R268C
Missense
SNP
0.412
2--
UCK1-
-
-
-
3Gain-
UEVLDp.A279S
p.R151Q
Missense
Missense
SNP
SNP
0.467
0.537
2--
UGCG-
-
-
-
3Gain-
UGGT2p.L1246*
Frame_Shift_Del
DEL
0.444
2--
UHRF2-
-
-
-
3Gain-
ULK2p.F266Lfs*11
Frame_Shift_Del
DEL
0.381
2--
UMODL1p.G384V
Missense
SNP
0.862
2--
UNC13B-
-
-
-
3Gain-
UNC79p.P39H
Missense
SNP
0.402
2--
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.562
2--
URB1p.W619G
Missense
SNP
0.386
2--
URM1-
-
-
-
3Gain-
USP14p.Y333Lfs*2
Frame_Shift_Ins
INS
0.314
2--
USP2p.G88C
Missense
SNP
0.397
2--
USP20-
-
-
-
3Gain-
USP34p.S2127R
Missense
SNP
0.381
2--
USP35p.T655Pfs*23
Frame_Shift_Del
DEL
0.459
2--
USP42p.K1236Rfs*92
Frame_Shift_Del
DEL
0.457
2--
UTP14Ap.T483A
Missense
SNP
1.000
NDND-
UTP23-
-
-
-
3Gain-
VANGL2p.R169C
Missense
SNP
0.455
2--
VAPBp.R38*
Nonsense
SNP
0.518
2--
VARS2p.A1053T
Missense
SNP
0.507
2--
VAV2-
-
-
-
3Gain-
VCANp.P31L
Missense
SNP
0.534
2--
VCP-
-
-
-
3Gain-
VCPIP1p.T177I
Missense
SNP
0.593
2--
VEZF1p.Q354dup
In_Frame_Ins
INS
0.263
2--
VIL1p.F37L
Missense
SNP
0.500
2--
VIPR2p.R54W
Missense
SNP
0.615
2--
VLDLR-
-
-
-
3Gain-
VPS13A-
-
-
-
3Gain-
VPS13Cp.K158Nfs*33
Frame_Shift_Del
DEL
0.333
2--
VPS26Ap.D263G
Missense
SNP
0.526
2--
VPS28-
-
-
-
3Gain-
VPS35p.A703Lfs*2
Frame_Shift_Del
DEL
0.510
2--
VSX2p.G223R
Missense
SNP
0.523
2--
VWA7p.Q279R
Missense
SNP
0.517
2--
VWC2p.A288D
Missense
SNP
0.418
2--
WARS2p.R252H
Missense
SNP
0.462
2--
WASHC5-
-
-
-
3Gain-
WDFY4p.F2760Lfs*78
Frame_Shift_Del
DEL
0.508
2--
WDR17p.L1171Q
Missense
SNP
0.566
2--
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR38p.K102T
Missense
SNP
0.144
3Gain-
WDR5-
-
-
-
3Gain-
WDR6p.E55A
Missense
SNP
0.660
2--
WDR78p.K30Rfs*28
Frame_Shift_Del
DEL
0.058
2--
WDR87p.S240N
Missense
SNP
0.477
2--
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WHRNp.P320S
Missense
SNP
0.378
3Gain-
WHSC1p.H793N
Missense
SNP
0.463
NDND-
WHSC1L1p.F313Lfs*67
p.F106Lfs*38
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.438
0.450
NDND-
WISP1-
-
-
-
3Gain-
WIZp.A311V
Missense
SNP
0.478
2--
WLSp.I449V
Missense
SNP
0.400
2--
WNK2-
-
-
-
3Gain-
WNT1p.G169Afs*30
Frame_Shift_Del
DEL
0.492
2--
WNT3p.R176H
Missense
SNP
0.480
2--
WSB2-
-
-
-
1Loss-
WWP1p.V193A
p.G491D
p.X866_splice
Missense
Missense
Splice_Site
SNP
SNP
SNP
0.605
0.375
0.320
2--
XDHp.S289L
Missense
SNP
0.419
2--
XPA-
-
-
-
3Gain-
XRCC3p.G285D
Missense
SNP
0.593
2--
XRN1p.T235Hfs*19
Frame_Shift_Del
DEL
0.415
2--
XYLT2p.G529Afs*78
Frame_Shift_Del
DEL
0.492
2--
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB43-
-
-
-
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7Cp.D132Tfs*90
Frame_Shift_Del
DEL
0.583
2--
ZC3H18p.X427_splice
Splice_Site
SNP
0.445
2--
ZC3H3-
-
-
-
3Gain-
ZC3H6p.S1077Vfs*4
Frame_Shift_Del
DEL
0.398
2--
ZCCHC24p.R194Afs*?
Frame_Shift_Del
DEL
0.482
2--
ZCCHC7-
-
-
-
3Gain-
ZCCHC8p.Q523P
Missense
SNP
0.494
2--
ZDHHC12-
-
-
-
3Gain-
ZDHHC21p.K165Sfs*15
Frame_Shift_Del
DEL
0.771
3Gain-
ZDHHC7p.G83R
Missense
SNP
0.507
2--
ZEB2p.A7V
Missense
SNP
0.490
2--
ZER1-
-
-
-
3Gain-
ZFAND5-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
3Gain-
ZFYVE19p.K92del
In_Frame_Del
DEL
0.562
2--
ZFYVE26p.Q499R
Missense
SNP
0.389
2--
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZIC2p.H239dup
In_Frame_Ins
INS
0.236
2--
ZMAT1p.K232N
Missense
SNP
1.000
NDND-
ZMYND19-
-
-
-
3Gain-
ZNF106p.S482Pfs*33
Frame_Shift_Del
DEL
0.437
2--
ZNF114p.Y315Ifs*6
Frame_Shift_Del
DEL
0.510
2--
ZNF16-
-
-
-
3Gain-
ZNF160p.T90I
Missense
SNP
0.514
2--
ZNF169-
-
-
-
3Gain-
ZNF189-
-
-
-
3Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF367-
-
-
-
3Gain-
ZNF423p.R617W
Missense
SNP
0.480
2--
ZNF449p.R30C
Missense
SNP
1.000
NDND-
ZNF462-
-
-
-
3Gain-
ZNF469p.S2888G
Missense
SNP
0.293
2--
ZNF470p.Y621C
Missense
SNP
0.500
2--
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF486p.G125Afs*22
p.K180Nfs*3
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.461
0.416
2--
ZNF497p.G308R
Missense
SNP
0.457
2--
ZNF510-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF555p.K534R
Missense
SNP
0.517
2--
ZNF557p.K402Nfs*40
Frame_Shift_Del
DEL
0.375
2--
ZNF560p.R536Q
Missense
SNP
0.392
2--
ZNF563p.W208Gfs*62
Frame_Shift_Del
DEL
0.431
2--
ZNF572-
-
-
-
3Gain-
ZNF581p.R143Q
Missense
SNP
0.536
2--
ZNF585Bp.P224T
Missense
SNP
0.420
2--
ZNF587p.N128Tfs*31
Frame_Shift_Del
DEL
0.382
2--
ZNF608p.A465Pfs*46
Frame_Shift_Del
DEL
0.479
2--
ZNF610p.L356P
Missense
SNP
0.420
2--
ZNF618p.P723S
Missense
SNP
0.480
3Gain-
ZNF623-
-
-
-
3Gain-
ZNF658-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF710p.E83G
Missense
SNP
0.548
2--
ZNF729p.C1245W
Missense
SNP
0.434
2--
ZNF782-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF836p.G382R
Missense
SNP
0.515
2--
ZNF839p.K242Nfs*3
Frame_Shift_Del
DEL
0.470
2--
ZNF883-
-
-
-
3Gain-
ZNF90p.G179D
Missense
SNP
0.525
2--
ZNRF3p.V183*
Frame_Shift_Del
DEL
0.442
2--
ZSCAN5Ap.K363E
Missense
SNP
0.500
2--
ZYXp.A3T
Missense
SNP
0.435
2--
ZZZ3p.C24Vfs*5
Frame_Shift_Del
DEL
0.547
NDND-