PDMR-175126~011-R~TCA-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARS2p.T89A
Missense
SNP
0.541
2-ND
ABCC4p.G1174E
Missense
SNP
0.497
2-ND
ABHD2p.D43A
Missense
SNP
0.412
2-ND
ACBD5p.D281G
Missense
SNP
0.464
2-ND
ACMSDp.A154V
Missense
SNP
0.585
2-ND
ACOT11p.N583S
Missense
SNP
0.413
2-ND
ACSF2p.P157T
Missense
SNP
0.473
2-ND
ADAM22p.Q553*
Nonsense
SNP
0.455
2-ND
ADAMTS16p.T702I
Missense
SNP
0.526
2-ND
ADAMTS6p.A526S
Missense
SNP
0.403
2-ND
ADCK1p.T382M
Missense
SNP
0.512
2-ND
ADCY3p.R478H
Missense
SNP
0.657
2-ND
ADGRB3p.G145W
p.R1279I
Missense
Missense
SNP
SNP
0.405
0.529
2-ND
ADRA1Dp.A69S
Missense
SNP
0.508
2-ND
ADRB3p.R286W
Missense
SNP
0.518
2-ND
AFAP1L2p.R498C
Missense
SNP
0.497
2-ND
AFG3L2p.A411V
Missense
SNP
0.542
2-ND
AGLp.I1144M
Missense
SNP
0.543
2-ND
AGPSp.M321T
Missense
SNP
0.431
2-ND
AHNAKp.L1380P
Missense
SNP
0.521
2-ND
AHRp.F594S
Missense
SNP
0.443
2-ND
AJUBAp.E497D
Missense
SNP
0.416
2-ND
AKAP11p.N843K
p.A1570T
Missense
Missense
SNP
SNP
0.511
0.474
2-ND
ALDH4A1p.R139C
Missense
SNP
0.569
2-ND
ALG10p.P409H
Missense
SNP
0.449
2-ND
ALKp.E427G
Missense
SNP
0.591
2-ND
ALOX5p.L317P
Missense
SNP
0.558
2-ND
ALPK2p.A202V
Missense
SNP
0.465
2-ND
ALX1p.R312*
Nonsense
SNP
0.509
2-ND
ALX3p.A69T
Missense
SNP
0.296
2-ND
ANK3p.R290*
Nonsense
SNP
0.511
2-ND
ANKRD35p.L206P
Missense
SNP
0.506
2-ND
ANKRD50p.I1332M
Missense
SNP
0.471
2-ND
APCDD1Lp.Y220C
Missense
SNP
0.454
2-ND
APOHp.P53S
Missense
SNP
0.444
2-ND
ARHGAP25p.D388Y
Missense
SNP
0.475
2-ND
ARHGAP31p.G1235*
Nonsense
SNP
0.500
2-ND
ARHGAP9p.R342G
Missense
SNP
0.447
2-ND
ARHGDIGp.X25_splice
Splice_Site
SNP
0.636
2-ND
ARHGEF10p.G360R
Missense
SNP
0.566
2-ND
ARHGEF12p.P1078S
Missense
SNP
0.442
2-ND
ARHGEF5-
-
-
-
1LossND
ARL10p.P5A
Missense
SNP
0.524
2-ND
ARMCX3p.Y22C
p.A183V
Missense
Missense
SNP
SNP
0.279
0.371
NDNDND
ARXp.V64M
Missense
SNP
0.328
NDNDND
ASS1p.A258T
Missense
SNP
0.494
2-ND
ASTE1p.A467S
Missense
SNP
0.510
2-ND
ATAD2p.G561R
Missense
SNP
0.513
2-ND
ATAD3Ap.R256H
Missense
SNP
0.508
2-ND
ATG4Bp.G254C
Missense
SNP
0.473
2-ND
ATG9Bp.R524H
Missense
SNP
0.508
2-ND
ATP10Ap.G1328R
Missense
SNP
0.427
2-ND
ATP10Dp.L839I
Missense
SNP
0.431
2-ND
ATP11Cp.A468T
Missense
SNP
0.320
NDNDND
ATP8B3p.L222P
p.P218L
Missense
Missense
SNP
SNP
0.432
0.562
2-ND
AURKAp.H366R
Missense
SNP
0.517
2-ND
AVPR1Bp.V285G
Missense
SNP
0.460
2-ND
AXIN2p.V539A
p.T536M
Missense
Missense
SNP
SNP
0.526
0.475
2-ND
B3GAT1p.L115I
Missense
SNP
0.434
2-ND
B4GALT4p.R301W
Missense
SNP
0.529
2-ND
BACE1p.R296H
Missense
SNP
0.420
2-ND
BAHD1p.A702V
Missense
SNP
0.483
2-ND
BANPp.A153T
Missense
SNP
0.400
2-ND
BCAR1p.R612W
p.G267C
Missense
Missense
SNP
SNP
0.535
0.556
2-ND
BCAS4p.P200T
Missense
SNP
0.523
2-ND
BEND3p.D364G
Missense
SNP
0.462
2-ND
BFSP2p.A407T
Missense
SNP
0.500
2-ND
BICC1p.A3T
Missense
SNP
0.579
2-ND
BIN3p.K113R
Missense
SNP
0.528
2-ND
BLACEp.I5S
Missense
SNP
0.493
NDNDND
BRAFp.V600E
Missense
SNP
0.507
2-ND
BRINP3p.K541T
Missense
SNP
0.498
3GainND
C14orf37p.A151V
Missense
SNP
0.392
NDNDND
C1GALT1C1p.H37P
Missense
SNP
0.661
NDNDND
C1orf204p.A149T
Missense
SNP
0.365
NDNDND
C1orf228p.A23T
Missense
SNP
0.467
NDNDND
C2CD4Dp.P184L
Missense
SNP
0.526
2-ND
C2orf16p.L1534H
Missense
SNP
0.454
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C8orf48p.V114L
Missense
SNP
0.515
2-ND
CA4p.A13V
Missense
SNP
0.558
2-ND
CACNA1Ap.P2421V
Missense
DNP
0.430
2-ND
CACNA1Bp.S761L
Missense
SNP
0.224
2-ND
CAPNS1p.F164S
Missense
SNP
0.481
2-ND
CARNS1p.S528N
Missense
SNP
0.505
2-ND
CATIPp.F354L
Missense
SNP
0.424
2-ND
CBLN4p.T134P
Missense
SNP
0.462
2-ND
CCDC102Bp.D477Y
Missense
SNP
0.377
2-ND
CCDC13p.L415P
Missense
SNP
0.592
2-ND
CCDC27p.R76W
Missense
SNP
0.513
2-ND
CCDC65p.X394_splice
Splice_Site
SNP
0.405
2-ND
CCDC94p.E170K
Missense
SNP
0.505
NDNDND
CCNJp.S267L
Missense
SNP
0.474
2-ND
CCNYL1p.N180D
Missense
SNP
0.448
2-ND
CCSER1p.L531R
Missense
SNP
0.584
2-ND
CD101p.D772A
Missense
SNP
0.457
2-ND
CD22p.E203*
Nonsense
SNP
0.505
2-ND
CD53p.R165Q
Missense
SNP
0.516
2-ND
CDC42BPGp.V304M
p.V205A
Missense
Missense
SNP
SNP
0.450
0.448
2-ND
CDH4p.W113C
Missense
SNP
0.475
2-ND
CDH5p.R621Q
Missense
SNP
0.441
2-ND
CDK4p.R210Q
Missense
SNP
0.460
2-ND
CDK5p.R200W
Missense
SNP
0.474
2-ND
CDK5R2p.G357R
Missense
SNP
0.479
2-ND
CECR6p.G159S
Missense
SNP
0.429
NDNDND
CELF3p.X76_splice
Splice_Site
SNP
0.412
2-ND
CELSR1p.R2406*
p.R291H
Nonsense
Missense
SNP
SNP
0.566
0.538
2-ND
CEMIPp.G118D
Missense
SNP
0.438
2-ND
CEP295p.L482R
Missense
SNP
0.438
2-ND
CEP63p.W43R
Missense
SNP
0.542
2-ND
CES2p.G88D
Missense
SNP
0.528
2-ND
CFAP47p.D385G
Missense
SNP
0.410
NDNDND
CFAP65p.S48R
Missense
SNP
0.392
2-ND
CFHp.G486E
Missense
DNP
0.498
2-ND
CFHR4p.D424N
Missense
SNP
0.372
2-ND
CHCHD2p.A37V
Missense
SNP
0.613
2-ND
CHRNA4p.L619M
Missense
SNP
0.528
2-ND
CHST2p.D441N
Missense
SNP
0.452
2-ND
CHST7p.G415S
Missense
SNP
0.391
NDNDND
CICp.R863C
Missense
SNP
0.568
2-ND
CKMT1Ap.R309H
Missense
SNP
0.517
2-ND
CLASP2p.R1236W
Missense
SNP
0.534
2-ND
CLASRPp.D81N
Missense
SNP
0.455
2-ND
CLEC16Ap.T848A
Missense
SNP
0.423
2-ND
CLHC1p.X272_splice
Splice_Site
SNP
0.618
2-ND
CLIP2p.M653V
Missense
SNP
0.609
2-ND
CLTAp.R213W
Missense
SNP
0.457
2-ND
CNN1p.D52G
Missense
SNP
0.508
2-ND
CNTN6p.G664S
Missense
SNP
0.480
2-ND
CNTNAP2-
-
-
-
3GainND
COL15A1p.D639G
Missense
SNP
0.547
2-ND
COL5A1p.G607R
Missense
SNP
0.511
2-ND
COLQp.G231*
Nonsense
SNP
0.471
2-ND
CPSF4Lp.R73Q
Missense
SNP
0.487
2-ND
CPXM1p.V356M
Missense
SNP
0.523
2-ND
CRATp.K426E
Missense
SNP
0.522
2-ND
CRB1p.K553T
Missense
SNP
0.470
2-ND
CRIPAKp.H442N
Missense
SNP
0.428
NDNDND
CRTAC1p.H556R
Missense
SNP
0.538
2-ND
CSp.K382R
Missense
SNP
0.560
2-ND
CSMD1p.I1814F
Missense
SNP
0.505
2-ND
CSNK2A1p.Y125C
Missense
SNP
0.515
2-ND
CSTBp.Y97*
Nonsense
SNP
0.528
2-ND
CTAGE1p.R556S
Missense
SNP
0.476
2-ND
CTAGE4-
-
-
-
1LossND
CTAGE8-
-
-
-
1LossND
CTC-260F20.3p.A106V
Missense
SNP
0.646
NDNDND
CTPS1p.G558D
Missense
SNP
0.393
2-ND
CUBNp.N2576D
Missense
SNP
0.493
2-ND
CWC22p.E426K
Missense
SNP
0.474
2-ND
CYP21A2-
-
-
-
1LossND
CYP26C1p.A164V
Missense
SNP
0.386
2-ND
CYP2D6p.V359M
Missense
SNP
0.350
2-ND
DACT3p.P495H
Missense
SNP
0.457
2-ND
DCCp.P234T
Missense
SNP
0.421
2-ND
DCHS2p.A309D
Missense
SNP
0.486
2-ND
DCST2p.M314L
Missense
SNP
0.426
2-ND
DDB1p.D705N
Missense
SNP
0.468
2-ND
DDNp.Q29*
Nonsense
SNP
0.487
2-ND
DDX11p.K209N
Missense
SNP
0.476
2-ND
DEPDC1Bp.Y156C
Missense
SNP
0.429
2-ND
DGKAp.P454S
Missense
SNP
0.436
2-ND
DHHp.G304S
Missense
SNP
0.500
2-ND
DHX37p.R1097G
Missense
SNP
0.495
2-ND
DISP1p.S957L
Missense
SNP
0.476
2-ND
DMRTA2p.R105C
Missense
SNP
0.399
2-ND
DNAH1p.H3607L
Missense
SNP
0.496
2-ND
DNAH10p.Q3307H
Missense
SNP
0.517
2-ND
DNAH11p.L1636F
Missense
SNP
0.457
2-ND
DNAH3p.F2236V
Missense
SNP
0.508
2-ND
DNAJC6p.R806*
Nonsense
SNP
0.402
2-ND
DNM1p.L452I
Missense
SNP
0.482
2-ND
DNMT1p.V1284A
Missense
SNP
0.424
2-ND
DOC2Bp.A60T
Missense
SNP
0.513
2-ND
DOCK3p.E901D
p.H1605R
Missense
Missense
SNP
SNP
0.294
0.401
2-ND
DPCR1p.A1237T
Missense
SNP
0.444
NDNDND
DPM1p.P125S
Missense
SNP
0.514
2-ND
DPTp.S47G
Missense
SNP
0.527
2-ND
DPY19L2p.R147H
Missense
SNP
0.474
2-ND
DRD3p.P247L
Missense
SNP
0.507
2-ND
DRD4p.A234V
Missense
SNP
0.524
2-ND
DSEp.K834E
Missense
SNP
0.511
2-ND
DSPPp.S293G
Missense
SNP
0.488
2-ND
DSTYKp.G30V
Missense
SNP
0.537
2-ND
DTD1p.V133A
Missense
SNP
0.495
2-ND
DUSP16p.L442I
Missense
SNP
0.527
2-ND
ECT2p.X749_splice
Splice_Site
SNP
0.452
2-ND
EDRF1p.R953*
Nonsense
SNP
0.452
2-ND
EFNA1p.L197F
Missense
SNP
0.436
2-ND
EGFL6p.A48V
Missense
SNP
0.343
NDNDND
EHBP1p.V29A
Missense
SNP
0.562
2-ND
EIF3Gp.S217R
Missense
SNP
0.513
2-ND
EIF4G1p.R901C
Missense
SNP
0.516
2-ND
EOMESp.R602S
Missense
SNP
0.453
2-ND
EPB41p.T798S
Missense
SNP
0.483
2-ND
EPB41L1p.A143E
Missense
SNP
0.437
2-ND
EPHA5p.Q511H
Missense
SNP
0.543
2-ND
EPHA7p.R811W
Missense
SNP
0.376
2-ND
EPS8L1p.R290C
Missense
SNP
0.483
2-ND
EVCp.A756T
Missense
SNP
0.519
2-ND
EYSp.R164Q
Missense
SNP
0.472
2-ND
F10p.A474T
Missense
SNP
0.464
2-ND
FAM161Ap.E477K
Missense
SNP
0.482
2-ND
FAM179Bp.R722W
Missense
SNP
0.620
NDNDND
FAM184Ap.P1109S
Missense
SNP
0.525
2-ND
FAM193Ap.E838*
Nonsense
SNP
0.469
2-ND
FAM199Xp.D45N
Missense
SNP
0.238
NDNDND
FAM213Ap.V212I
Missense
SNP
0.579
NDNDND
FAM9Bp.G25*
Nonsense
SNP
0.351
NDNDND
FAT4p.A4625T
Missense
SNP
0.509
2-ND
FBLL1p.V84G
p.A229V
Missense
Missense
SNP
SNP
0.377
0.507
2-ND
FBN2p.A1032S
Missense
SNP
0.477
2-ND
FBN3p.R2688*
Nonsense
SNP
0.528
2-ND
FBXL19p.P191T
Missense
SNP
0.566
2-ND
FBXL8p.L354M
Missense
SNP
0.533
2-ND
FBXO40p.H565R
Missense
SNP
0.539
2-ND
FBXW10p.P223T
Missense
SNP
0.403
2-ND
FCHSD1p.S630I
Missense
SNP
0.514
2-ND
FDPSp.D317G
Missense
SNP
0.410
2-ND
FEVp.A165P
Missense
SNP
0.500
2-ND
FHDC1p.H593R
Missense
SNP
0.460
2-ND
FIBCD1p.F449C
Missense
SNP
0.462
2-ND
FKBP8p.S130L
Missense
SNP
0.471
2-ND
FLNBp.T1076M
Missense
SNP
0.497
2-ND
FLRT2p.S173N
Missense
SNP
0.593
3GainND
FMNL2p.F14I
Missense
SNP
0.464
2-ND
FOXC1p.F167I
Missense
SNP
0.453
2-ND
FOXE3p.D110N
Missense
SNP
0.511
2-ND
FOXG1-
-
-
-
3GainND
FOXK1p.V676A
Missense
SNP
0.593
2-ND
FRMPD3p.R1386H
Missense
SNP
0.661
NDNDND
FSIP2p.X343_splice
Splice_Site
SNP
0.438
2-ND
FUT9p.M50T
Missense
SNP
0.479
2-ND
FZD7p.Y179C
Missense
SNP
0.358
2-ND
GABPB2p.D304V
Missense
SNP
0.482
2-ND
GAL3ST4p.A368V
Missense
SNP
0.502
2-ND
GALNT14p.V540I
Missense
SNP
0.435
2-ND
GAR1p.G61D
Missense
SNP
0.553
2-ND
GATAD2Bp.R310H
Missense
SNP
0.483
2-ND
GCC1p.R558Q
Missense
SNP
0.514
2-ND
GDF6p.R62W
Missense
SNP
0.459
2-ND
GET4p.F203L
Missense
SNP
0.492
2-ND
GFPT1p.P109T
Missense
SNP
0.437
2-ND
GINS4p.K200M
Missense
SNP
0.498
2-ND
GLRX3p.N134D
Missense
SNP
0.561
2-ND
GLTSCR1p.N1324I
Missense
SNP
0.438
NDNDND
GPM6Ap.A223T
Missense
SNP
0.459
2-ND
GPR37L1p.Q306K
Missense
SNP
0.455
2-ND
GREB1Lp.A971V
Missense
SNP
0.524
2-ND
GRIA3p.Q619*
Nonsense
SNP
0.329
NDNDND
GRIP1p.R905C
Missense
SNP
0.477
2-ND
GRM1p.S1163R
Missense
SNP
0.530
2-ND
GSE1p.R361C
Missense
SNP
0.447
2-ND
GSG2p.H746R
Missense
SNP
0.551
NDNDND
GTF3C1p.R1514Q
Missense
SNP
0.373
2-ND
GTSF1p.A55V
Missense
SNP
0.485
2-ND
GUCY1A2p.E679K
Missense
SNP
0.561
2-ND
HBQ1p.L49M
Missense
SNP
0.508
2-ND
HCN1p.R590Q
Missense
SNP
0.562
2-ND
HEATR4p.Y344*
Nonsense
SNP
0.467
2-ND
HECTD4p.L3686P
p.K1147N
Missense
Missense
SNP
SNP
0.489
0.489
2-ND
HECW1p.A775S
Missense
SNP
0.491
2-ND
HECW2p.A422V
Missense
SNP
0.460
2-ND
HMCN2p.P3867H
Missense
SNP
0.509
2-ND
HRp.S930P
Missense
SNP
0.432
2-ND
HSH2Dp.A282T
Missense
SNP
0.480
2-ND
HSPA1Lp.D595N
Missense
SNP
0.492
2-ND
HUNKp.D494N
Missense
SNP
0.494
2-ND
IARSp.F339S
Missense
SNP
0.446
2-ND
IBTKp.I526V
Missense
SNP
0.455
2-ND
ICAM4p.R26C
Missense
SNP
0.429
2-ND
IDI1p.T141M
Missense
SNP
0.478
2-ND
IFIT1p.Q410H
Missense
SNP
0.456
2-ND
IFT74p.F191L
Missense
SNP
0.429
2-ND
IGF2Rp.Y2115C
Missense
SNP
0.446
2-ND
IGSF9Bp.A804T
Missense
SNP
0.558
2-ND
IL18RAPp.T401M
Missense
SNP
0.484
2-ND
IL2RGp.Y189H
Missense
SNP
0.382
NDNDND
INHBAp.K163E
Missense
SNP
0.452
2-ND
IRAK2p.S172L
Missense
SNP
0.511
2-ND
IRF9p.R13W
Missense
SNP
0.500
2-ND
IRX1p.G121D
Missense
SNP
0.515
2-ND
ITGA4p.G31S
Missense
SNP
0.399
2-ND
ITGA9p.L645M
Missense
SNP
0.417
2-ND
ITGADp.D529G
Missense
SNP
0.483
2-ND
IZUMO4p.T221P
Missense
SNP
0.458
2-ND
JMYp.Y443H
Missense
SNP
0.493
2-ND
KALRNp.R1137C
Missense
SNP
0.448
2-ND
KANSL1Lp.E474K
Missense
SNP
0.490
2-ND
KAZNp.T416M
Missense
SNP
0.409
2-ND
KCNA4p.C586F
Missense
SNP
0.450
2-ND
KCND2-
-
-
-
3GainND
KCNG3p.A86V
Missense
SNP
0.498
2-ND
KCNMA1p.D1107N
Missense
SNP
0.561
2-ND
KCNS2p.V230M
Missense
SNP
0.407
2-ND
KCTD8p.G160D
Missense
SNP
0.452
2-ND
KDF1p.R146W
Missense
SNP
0.546
2-ND
KIAA0319p.R791*
Nonsense
SNP
0.495
2-ND
KIAA0895Lp.P164T
Missense
SNP
0.408
2-ND
KIAA1217p.S930L
Missense
SNP
0.478
2-ND
KIF13Bp.E944K
Missense
SNP
0.542
2-ND
KIF3Cp.S216C
Missense
SNP
0.504
2-ND
KIF5Bp.A461V
Missense
SNP
0.534
2-ND
KIF7p.R691C
Missense
SNP
0.497
2-ND
KLC3p.E50D
Missense
SNP
0.444
2-ND
KLHL34p.S584L
p.T260M
Missense
Missense
SNP
SNP
0.304
0.347
NDNDND
KLK14p.A60V
Missense
SNP
0.545
2-ND
KMT2Bp.D1349E
Missense
SNP
0.455
2-ND
KMT2Dp.Q1302R
Missense
SNP
0.547
2-ND
KPNA5p.A103T
Missense
SNP
0.500
2-ND
KREMEN2p.T374M
Missense
SNP
0.553
2-ND
KRT12p.M129I
Missense
SNP
0.551
2-ND
KRTAP19-1p.G61C
Missense
SNP
0.528
2-ND
LAMB3p.C584*
Nonsense
SNP
0.529
2-ND
LARS2p.E294K
Missense
SNP
0.463
2-ND
LCE5Ap.S61I
Missense
SNP
0.456
2-ND
LDOC1p.P47L
p.A18T
Missense
Missense
SNP
SNP
0.345
0.329
NDNDND
LHPPp.E177V
Missense
SNP
0.510
2-ND
LIN28Ap.R132Q
Missense
DNP
0.482
2-ND
LOXHD1p.K82E
Missense
SNP
0.617
2-ND
LOXL2p.R338C
Missense
SNP
0.461
2-ND
LOXL4p.R427C
Missense
SNP
0.586
2-ND
LRCH4p.V663I
Missense
SNP
0.434
2-ND
LRP2p.D297Y
Missense
SNP
0.491
2-ND
LRRC75Bp.L215P
Missense
SNP
0.469
2-ND
LRRIQ3p.T128A
Missense
SNP
0.481
2-ND
LRRK1p.V1320A
Missense
SNP
0.417
2-ND
LY6G5Bp.T27M
Missense
SNP
0.516
2-ND
LZICp.L138I
Missense
SNP
0.429
2-ND
MAD1L1p.L113I
Missense
SNP
0.406
2-ND
MADCAM1p.R188H
Missense
SNP
0.468
2-ND
MAFAp.E251D
Missense
SNP
0.493
2-ND
MAGEB6P1p.A365S
Missense
SNP
0.309
NDNDND
MAGEC1p.D91N
p.S713R
Missense
Missense
SNP
SNP
0.333
0.353
NDNDND
MAP10p.E397K
Missense
SNP
0.510
2-ND
MAP3K1p.V569I
Missense
SNP
0.513
2-ND
MAP3K12p.G229C
Missense
SNP
0.474
2-ND
MAP3K15p.E309D
Missense
SNP
0.303
NDNDND
MAPKBP1p.X725_splice
Splice_Site
SNP
0.505
2-ND
MAST2p.R1202P
Missense
SNP
0.385
2-ND
MAST4p.T1769M
Missense
SNP
0.517
2-ND
MBD1p.N554S
Missense
SNP
0.411
2-ND
MCIDASp.A252V
Missense
SNP
0.548
2-ND
MCOLN1p.R318C
Missense
SNP
0.450
2-ND
MCRS1p.E183V
Missense
SNP
0.428
2-ND
MED13p.X2098_splice
Splice_Site
SNP
0.477
2-ND
MEGF8p.S1358P
Missense
SNP
0.493
2-ND
MEI1p.A1074V
Missense
SNP
0.464
2-ND
MELTFp.A383V
Missense
SNP
0.388
2-ND
METTL11Bp.V134I
Missense
SNP
0.451
2-ND
METTL13p.S99G
Missense
SNP
0.455
2-ND
METTL25p.R232S
Missense
SNP
0.387
2-ND
MEX3Bp.P211S
Missense
SNP
0.516
2-ND
MGAT5p.C145R
Missense
SNP
0.562
2-ND
MLXIPLp.E30Q
Missense
SNP
0.537
2-ND
MMP28p.A206V
Missense
SNP
0.448
2-ND
MMS22Lp.H1047Y
Missense
SNP
0.498
2-ND
MOB4p.A102T
Missense
SNP
0.426
2-ND
MORC4p.D88N
Missense
SNP
0.358
NDNDND
MORN3p.M151T
Missense
SNP
0.519
2-ND
MPLp.G343E
Missense
SNP
0.559
2-ND
MPOp.E282K
Missense
SNP
0.454
2-ND
MPZL2p.H80R
Missense
SNP
0.462
2-ND
MRM3p.A259T
Missense
SNP
0.455
2-ND
MROH2Ap.Q997K
Missense
SNP
0.535
1LossND
MTF2p.G486*
Nonsense
SNP
0.475
2-ND
MUC5Bp.P1436L
Missense
SNP
0.543
2-ND
MXRA5p.Q486R
Missense
SNP
0.286
NDNDND
MYO15Bp.A1123V
Missense
SNP
0.505
2-ND
MYO1Gp.Q420L
Missense
SNP
0.542
2-ND
MYOZ1p.A157V
Missense
SNP
0.585
2-ND
MZT2Ap.Q155H
Missense
SNP
0.513
2-ND
NALCNp.R297H
Missense
SNP
0.406
2-ND
NAP1L6p.E104V
Missense
SNP
0.318
NDNDND
NAT8p.P50A
Missense
SNP
0.494
2-ND
NCBP2p.R91C
Missense
SNP
0.498
2-ND
NCOR1p.A317S
Missense
SNP
0.371
2-ND
NEBp.R8481*
Nonsense
SNP
0.461
2-ND
NEFMp.R204H
Missense
SNP
0.575
2-ND
NEIL2p.Q284*
Nonsense
SNP
0.551
2-ND
NHSp.R137W
Missense
SNP
0.298
NDNDND
NID1p.C414R
Missense
SNP
0.492
2-ND
NINJ2p.A23T
Missense
SNP
0.572
2-ND
NIPBLp.R834*
p.M2398T
Nonsense
Missense
SNP
SNP
0.470
0.508
2-ND
NKIRAS2p.G45S
Missense
SNP
0.447
2-ND
NKX2-3p.A294V
Missense
SNP
0.553
2-ND
NKX2-6p.V137M
Missense
SNP
0.475
2-ND
NLE1p.P41Q
Missense
SNP
0.444
2-ND
NLGN3p.M457V
Missense
SNP
0.336
NDNDND
NLRC5p.L28P
p.A728T
p.D1782V
Missense
Missense
Missense
SNP
SNP
SNP
0.464
0.438
0.412
2-ND
NLRP4p.Q533K
Missense
SNP
0.524
2-ND
NOGp.R182C
Missense
SNP
0.553
2-ND
NOL4p.L585M
Missense
SNP
0.503
2-ND
NOP56p.P506H
Missense
SNP
0.511
2-ND
NOTCH4p.T1083A
Missense
SNP
0.382
2-ND
NPAS4p.V167M
Missense
SNP
0.487
2-ND
NR1H3p.R160L
Missense
SNP
0.462
2-ND
NRXN1p.M1492V
Missense
SNP
0.503
2-ND
NSUN2p.P504H
Missense
SNP
0.553
2-ND
NSUN6p.G328E
Missense
SNP
0.434
2-ND
NUDT11p.R40W
Missense
SNP
0.341
NDNDND
NUP210p.R1871H
Missense
SNP
0.453
2-ND
OBSCNp.V5179M
p.R6883H
p.G8883D
Missense
Missense
Missense
SNP
SNP
SNP
0.442
0.535
0.475
2-ND
OGDHLp.A400T
Missense
SNP
0.642
2-ND
OR1M1p.L82R
Missense
SNP
0.620
2-ND
OR2A1-
-
-
-
1LossND
OR2A42-
-
-
-
1LossND
OR2A7-
-
-
-
1LossND
OR2B11p.L75I
Missense
SNP
0.474
2-ND
OR51F1p.Y261H
Missense
SNP
0.581
2-ND
OR52E8p.H111R
Missense
SNP
0.450
2-ND
OR5L1p.D89V
Missense
SNP
0.505
2-ND
OSGIN1p.R80L
Missense
SNP
0.465
2-ND
OTUD7Ap.R672Q
Missense
SNP
0.520
2-ND
OVOS2p.Y1125H
Missense
SNP
0.493
NDNDND
P3H2p.S550T
Missense
SNP
0.515
2-ND
PAGE1p.E133D
Missense
SNP
0.361
NDNDND
PANX2p.R427C
Missense
SNP
0.535
2-ND
PAPD5p.A107T
Missense
SNP
0.519
NDNDND
PAX6p.L336I
Missense
SNP
0.526
2-ND
PCDH10p.R970H
Missense
SNP
0.466
2-ND
PCDH7p.R197C
Missense
SNP
0.514
2-ND
PCDHA10p.S679L
Missense
SNP
0.492
2-ND
PCDHA7p.V740E
Missense
SNP
0.515
2-ND
PCDHB2p.A469T
Missense
SNP
0.421
2-ND
PCDHGA11p.A697V
Missense
SNP
0.498
2-ND
PCDHGA2p.R32H
Missense
SNP
0.543
2-ND
PCSK1p.R669Q
Missense
SNP
0.470
2-ND
PDZD4p.L373M
Missense
SNP
0.281
NDNDND
PDZD8p.R772C
Missense
SNP
0.522
2-ND
PDZRN4p.Q177P
Missense
SNP
0.449
2-ND
PEG3p.D560V
p.D142N
Missense
Missense
SNP
SNP
0.455
0.557
2-ND
PELP1p.L416R
Missense
SNP
0.502
2-ND
PHACTR2p.E68*
Nonsense
SNP
0.456
2-ND
PHF3p.R142Q
Missense
SNP
0.475
2-ND
PHF8p.A946T
p.R676W
Missense
Missense
SNP
SNP
0.385
0.353
NDNDND
PHIPp.V732A
Missense
SNP
0.573
2-ND
PHKA2p.X1113_splice
Splice_Site
SNP
0.377
NDNDND
PIEZO1p.W1403*
Nonsense
SNP
0.379
2-ND
PIGGp.R465G
Missense
SNP
0.500
2-ND
PIGZp.T542I
Missense
SNP
0.476
2-ND
PITX1p.L104P
Missense
SNP
0.442
2-ND
PJA1p.T50M
Missense
SNP
0.375
NDNDND
PLA2G4A-
-
-
-
3GainND
PLCL2p.L172P
Missense
SNP
0.484
2-ND
PLOD1p.R430H
Missense
SNP
0.534
2-ND
PLXNB3p.A188V
Missense
SNP
0.247
NDNDND
PMLp.C754Y
Missense
SNP
0.496
2-ND
PMP22p.L62M
Missense
SNP
0.578
2-ND
PNPLA7p.R60G
Missense
SNP
0.452
2-ND
POC1Ap.V169A
Missense
SNP
0.418
2-ND
POLD2p.S479I
Missense
SNP
0.516
2-ND
POLR1Bp.R1080W
Missense
SNP
0.571
2-ND
POLR2Ap.X919_splice
Splice_Site
SNP
0.591
2-ND
POM121L12-
-
-
-
3GainND
POTECp.L57F
Missense
SNP
0.552
2-ND
POTEEp.T860S
Missense
SNP
0.463
NDNDND
POU5F1Bp.P14H
Missense
SNP
0.500
2-ND
PPARGC1Bp.A397V
Missense
SNP
0.419
2-ND
PPFIA3p.R539Q
Missense
SNP
0.570
2-ND
PRDM10p.T1144I
Missense
SNP
0.450
2-ND
PRDM13p.A369V
Missense
SNP
0.444
2-ND
PRDM16p.A1063T
Missense
SNP
0.490
2-ND
PREX2p.A1036V
Missense
SNP
0.427
2-ND
PRKCHp.A299V
Missense
SNP
0.443
2-ND
PRKDCp.V323A
Missense
SNP
0.444
2-ND
PRPF8p.X1874_splice
p.E534*
Splice_Site
Nonsense
SNP
SNP
0.402
0.473
2-ND
PRRC2Bp.R262*
Nonsense
SNP
0.520
2-ND
PSMA3p.D252G
Missense
SNP
0.538
2-ND
PTCHD4p.R744Q
Missense
SNP
0.519
2-ND
PTENp.G251V
Missense
SNP
0.510
2-ND
PTH2p.P38R
Missense
SNP
0.500
2-ND
PTPRUp.P698H
Missense
SNP
0.489
2-ND
PTTG1IPp.E133G
Missense
SNP
0.495
2-ND
PZPp.N1044K
Missense
SNP
0.554
2-ND
RAP1GAPp.A540T
Missense
SNP
0.540
2-ND
RBFOX3p.I309V
Missense
SNP
0.477
2-ND
RBM5p.G447D
Missense
SNP
0.547
2-ND
RELAp.Y349C
Missense
SNP
0.478
2-ND
RELNp.K329*
Nonsense
SNP
0.498
2-ND
RFX7p.Q820R
Missense
SNP
0.521
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
3GainND
RGS18-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
RHOp.Y10C
Missense
SNP
0.397
2-ND
RIMBP2p.Y212S
Missense
SNP
0.440
2-ND
RIOK1p.G88*
Nonsense
SNP
0.408
2-ND
RIOK2p.E280K
Missense
SNP
0.523
2-ND
RNF123p.A477V
Missense
SNP
0.470
2-ND
RNF17p.H686R
Missense
SNP
0.405
2-ND
RNF175p.V114I
Missense
SNP
0.582
2-ND
RNF181p.P93L
Missense
SNP
0.444
2-ND
RPAP2p.R504L
Missense
SNP
0.531
2-ND
RSF1p.R970C
Missense
SNP
0.418
2-ND
RTFDC1p.V211M
Missense
SNP
0.481
NDNDND
RWDD3p.G253V
Missense
SNP
0.513
2-ND
RYR2p.T4072M
Missense
SNP
0.479
2-ND
RYR3p.R4043H
Missense
SNP
0.492
2-ND
S1PR5p.R111W
Missense
SNP
0.457
2-ND
SAFBp.R718W
Missense
SNP
0.431
2-ND
SAMD7p.N163K
Missense
SNP
0.467
2-ND
SAP130p.C986L
Missense
DNP
0.343
2-ND
SAV1p.R242*
Nonsense
SNP
0.589
2-ND
SBK1p.T248A
Missense
SNP
0.434
2-ND
SBK2p.R327H
Missense
SNP
0.473
2-ND
SCAPERp.R590*
Nonsense
SNP
0.548
2-ND
SCARA5p.A304T
Missense
SNP
0.352
2-ND
SCN7Ap.S530M
Missense
DNP
0.375
2-ND
SCUBE3p.L477R
Missense
SNP
0.482
2-ND
SEC16Ap.T1956M
Missense
SNP
0.525
2-ND
SEMA3Dp.R113W
Missense
SNP
0.509
2-ND
SEMA6Ap.Y472C
Missense
SNP
0.455
2-ND
SEMA7Ap.R261H
Missense
SNP
0.432
2-ND
SENP7p.K582N
Missense
SNP
0.419
2-ND
SH2D4Ap.R247C
Missense
SNP
0.514
2-ND
SH3GL1p.A125V
Missense
SNP
0.500
2-ND
SHANK1p.V1207M
Missense
SNP
0.459
2-ND
SIM1p.X248_splice
Splice_Site
SNP
0.470
2-ND
SIMC1p.R458H
Missense
SNP
0.409
2-ND
SIPA1L2p.E1180K
Missense
SNP
0.419
2-ND
SIRT1p.R384*
Nonsense
SNP
0.433
2-ND
SIRT2p.R381G
Missense
SNP
0.519
2-ND
SLC22A18p.R89W
Missense
SNP
0.426
2-ND
SLC27A6p.Q544*
Nonsense
SNP
0.528
2-ND
SLC2A8p.R215C
Missense
SNP
0.495
2-ND
SLC34A2p.C622R
Missense
SNP
0.429
2-ND
SLC35A5p.A375T
Missense
SNP
0.374
2-ND
SLC38A3p.L178P
Missense
SNP
0.497
2-ND
SLC4A10p.R63*
Nonsense
SNP
0.467
2-ND
SLC5A11p.A383V
Missense
SNP
0.507
2-ND
SLC5A5p.F247L
Missense
SNP
0.508
2-ND
SLC6A5p.S168Y
Missense
SNP
0.597
2-ND
SLC6A6p.R278C
Missense
SNP
0.473
2-ND
SLC7A4p.N593K
p.G187*
p.R135H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.557
0.449
0.509
2-ND
SLC7A8p.W182*
Nonsense
SNP
0.531
2-ND
SLC8A3p.K601R
Missense
SNP
0.416
2-ND
SLITRK1p.L184I
Missense
SNP
0.488
2-ND
SLITRK5p.D161N
Missense
SNP
0.450
2-ND
SMAD3p.H85R
Missense
SNP
0.540
2-ND
SMC3p.R186W
Missense
SNP
0.509
2-ND
SMCO2p.P331S
Missense
SNP
0.451
2-ND
SNTB1p.R241W
Missense
SNP
0.480
2-ND
SNX13p.Q160H
Missense
SNP
0.583
2-ND
SOCS5p.R263M
Missense
SNP
0.456
2-ND
SONp.V1558I
Missense
SNP
0.543
2-ND
SOX21p.A218T
Missense
SNP
0.587
2-ND
SOX3p.I26M
Missense
SNP
0.295
NDNDND
SP140p.G549W
Missense
SNP
0.545
2-ND
SPG11p.S464P
Missense
SNP
0.477
2-ND
SPTBN4p.A1686V
Missense
SNP
0.496
2-ND
SRCAPp.Q3205R
Missense
SNP
0.567
2-ND
SRPK3p.E501A
Missense
SNP
0.315
NDNDND
SRRM4p.R209W
Missense
SNP
0.589
2-ND
SS18p.I16N
Missense
SNP
0.638
2-ND
SSH2p.A1410T
Missense
SNP
0.529
2-ND
STARD8p.G1050S
Missense
SNP
0.342
NDNDND
STAT4p.I105V
Missense
SNP
0.559
2-ND
STK10p.R817C
Missense
SNP
0.573
2-ND
STK19-
-
-
-
1LossND
STRN4p.D519Y
p.D419N
Missense
Missense
SNP
SNP
0.493
0.572
2-ND
SURF6p.E286K
Missense
SNP
0.431
2-ND
TAGAPp.R412H
Missense
SNP
0.490
2-ND
TBC1D1p.Q238R
Missense
SNP
0.531
2-ND
TBC1D22Bp.A487V
Missense
SNP
0.502
2-ND
TBR1p.S164F
Missense
SNP
0.466
2-ND
TBX4p.V55A
Missense
SNP
0.500
2-ND
TBXA2Rp.R53W
Missense
SNP
0.460
2-ND
TCF25p.W675G
Missense
SNP
0.507
2-ND
TDO2p.E24K
Missense
SNP
0.467
2-ND
TEX13Cp.M421I
Missense
SNP
0.324
NDNDND
TFAP2Bp.S45L
Missense
SNP
0.505
2-ND
TFEBp.R329C
Missense
SNP
0.430
2-ND
TGFBR1p.X467_splice
Splice_Site
SNP
0.484
2-ND
TJP2p.E329K
Missense
SNP
0.532
2-ND
TLE4p.S629I
Missense
SNP
0.525
2-ND
TMEM101p.S20L
Missense
SNP
0.470
2-ND
TMEM102p.D59E
Missense
SNP
0.537
2-ND
TMEM131p.A449V
Missense
SNP
0.462
2-ND
TMEM143p.L249P
Missense
SNP
0.421
2-ND
TMEM184Ap.L50I
Missense
SNP
0.607
2-ND
TMEM255Bp.S25L
Missense
SNP
0.587
2-ND
TMIGD2p.L156P
Missense
SNP
0.443
2-ND
TMX3p.K194N
Missense
SNP
0.400
2-ND
TNFAIP6p.A42T
Missense
SNP
0.370
2-ND
TNKSp.R1161W
Missense
SNP
0.417
2-ND
TNPO2p.M740I
p.V451I
Missense
Missense
SNP
SNP
0.534
0.505
2-ND
TNRC18p.R451C
Missense
SNP
0.462
2-ND
TNRC6Bp.Q1307E
Missense
SNP
0.420
2-ND
TNS2p.R37K
Missense
SNP
0.512
2-ND
TNS3p.G934C
Missense
SNP
0.515
2-ND
TNXB-
-
-
-
1LossND
TRAF7p.R71W
Missense
SNP
0.397
2-ND
TRAV8-7p.E81D
Missense
SNP
0.362
NDNDND
TRIM10p.V383M
Missense
SNP
0.562
2-ND
TRIM50p.D431N
Missense
SNP
0.517
2-ND
TRPC5p.R512C
Missense
SNP
0.343
NDNDND
TRPM3p.T1290M
Missense
SNP
0.468
2-ND
TRPM5p.L877P
Missense
SNP
0.477
2-ND
TRPV4p.E444D
Missense
SNP
0.387
2-ND
TTC27p.L376R
Missense
SNP
0.503
2-ND
TTC28p.V1585M
Missense
SNP
0.500
2-ND
TTC6p.R64C
Missense
SNP
0.524
2-ND
TTLL10p.M239V
Missense
SNP
0.494
2-ND
TTNp.G30849V
p.R1981K
Missense
Missense
SNP
SNP
0.421
0.473
2-ND
TUBA3Cp.A385T
Missense
SNP
0.521
2-ND
TUBA3Dp.G17S
Missense
SNP
0.480
2-ND
TUBB4Ap.T386M
p.L130I
Missense
Missense
SNP
SNP
0.511
0.409
2-ND
TYRP1p.G10C
Missense
SNP
0.490
2-ND
U2AF1L4p.R174M
Missense
SNP
0.461
2-ND
UEVLDp.X165_splice
Splice_Site
SNP
0.478
2-ND
UGT1A1-
-
-
-
1LossND
UGT1A10-
-
-
-
1LossND
UGT1A3-
-
-
-
1LossND
UGT1A4-
-
-
-
1LossND
UGT1A5-
-
-
-
1LossND
UGT1A6-
-
-
-
1LossND
UGT1A7-
-
-
-
1LossND
UGT1A8p.S141C
Missense
SNP
0.463
1LossND
UGT1A9-
-
-
-
1LossND
UGT2B4p.G341V
Missense
SNP
0.412
2-ND
UNC13Cp.Q1420R
Missense
SNP
0.432
2-ND
URB2p.A1028T
Missense
SNP
0.444
2-ND
USP19p.V498A
Missense
SNP
0.526
2-ND
USP27Xp.G186R
Missense
SNP
0.712
NDNDND
USP32p.T734A
Missense
SNP
0.477
2-ND
USP9Xp.A1875V
Missense
SNP
0.342
NDNDND
UTS2Rp.R329H
Missense
SNP
0.250
2-ND
VCAM1p.T79M
Missense
SNP
0.482
2-ND
VCPIP1p.V221L
Missense
SNP
0.478
2-ND
VPS13Dp.R3316H
Missense
SNP
0.505
2-ND
VSIG10p.S87F
Missense
SNP
0.483
2-ND
VSTM2Lp.G23S
Missense
SNP
0.535
2-ND
VWA2p.G412D
Missense
SNP
0.495
2-ND
WASp.G465*
Nonsense
SNP
0.379
NDNDND
WDFY4p.R94S
Missense
SNP
0.520
2-ND
WDR45p.R233H
Missense
SNP
0.333
NDNDND
WDR49p.R647H
Missense
SNP
0.574
2-ND
WDR7p.T1180M
Missense
SNP
0.507
2-ND
WNK3p.K1437Q
Missense
SNP
0.370
NDNDND
WNT5Ap.V147M
Missense
SNP
0.460
2-ND
XPNPEP2p.E639K
Missense
SNP
0.356
NDNDND
ZBTB20p.E728K
Missense
SNP
0.552
2-ND
ZBTB33.
Splice_Site
SNP
0.352
NDNDND
ZDHHC20p.F245V
Missense
SNP
0.484
2-ND
ZFHX4p.E2641K
p.V2648A
Missense
Missense
SNP
SNP
0.487
0.494
2-ND
ZMYND8p.C122Y
Missense
SNP
0.523
2-ND
ZNF185p.A116T
Missense
SNP
0.322
NDNDND
ZNF467p.A447V
Missense
SNP
0.577
2-ND
ZNF469p.N617S
p.T2559I
Missense
Missense
SNP
SNP
0.449
0.466
2-ND
ZNF518Ap.E95G
Missense
SNP
0.483
2-ND
ZNF585Bp.G714E
Missense
SNP
0.542
2-ND
ZNF665p.A69V
Missense
SNP
0.507
2-ND
ZNF711p.Q127H
Missense
SNP
0.623
NDNDND
ZNF746p.T131M
Missense
SNP
0.461
2-ND
ZNF804Ap.R770Q
Missense
SNP
0.461
2-ND
ZNRF3p.G96D
Missense
SNP
0.512
2-ND
ZSCAN12p.T79I
Missense
SNP
0.454
2-ND