PDMR-175126~011-R~TCEPF2-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AARS2p.T89A
Missense
SNP
0.543
2--
ABCA9p.V1389M
Missense
SNP
0.555
2--
ABCB9-
-
-
-
3Gain-
ABCC4p.G1174E
Missense
SNP
0.509
2--
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABHD2p.D43A
Missense
SNP
0.495
2--
AC002996.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACBD5p.D281G
Missense
SNP
0.410
2--
ACMSDp.A154V
Missense
SNP
0.475
2--
ACOT11p.N583S
Missense
SNP
0.420
2--
ACRBP-
-
-
-
3Gain-
ACSF2p.P157T
Missense
SNP
0.421
2--
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTN4-
-
-
-
2-AL139099.4--ACTN4
ACTR6-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ADAM22p.Q553*
Nonsense
SNP
0.551
2--
ADAMTS16p.T702I
Missense
SNP
0.421
2--
ADAMTS20-
-
-
-
3Gain-
ADAMTS6p.A526S
Missense
SNP
0.453
2--
ADCK1p.T382M
Missense
SNP
0.462
2--
ADCY3p.R478H
Missense
SNP
0.480
2--
ADCY6-
-
-
-
3Gain-
ADCY9p.L323P
Missense
SNP
0.528
2--
ADGRB3p.G145W
p.R1279I
Missense
Missense
SNP
SNP
0.414
0.463
2--
ADGRD1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
ADRA1Dp.A69S
Missense
SNP
0.433
2--
ADRB3p.R286W
Missense
SNP
0.366
2--
AEBP2-
-
-
-
3Gain-
AFAP1L2p.R498C
Missense
SNP
0.531
2--
AFG3L2p.A411V
Missense
SNP
0.532
2--
AGAP2-
-
-
-
3Gain-
AGLp.I1144M
Missense
SNP
0.471
2--
AGPSp.M321T
Missense
SNP
0.479
2--
AHNAKp.L1380P
Missense
SNP
0.456
2--
AHRp.F594S
Missense
SNP
0.503
2--
AICDA-
-
-
-
3Gain-
AJUBAp.E497D
Missense
SNP
0.413
2--
AKAP11p.N843K
p.A1570T
Missense
Missense
SNP
SNP
0.521
0.506
2--
AKAP3-
-
-
-
3Gain-
AKAP8Lp.X272_splice
Splice_Site
SNP
0.497
2--
AL021546.1-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--ACTN4
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH4A1p.R139C
Missense
SNP
0.547
2--
ALG10p.P409H
Missense
SNP
0.650
3Gain-
ALG10B-
-
-
-
3Gain-
ALKp.E427G
Missense
SNP
0.566
2--
ALKBH2-
-
-
-
3Gain-
ALOX5p.L317P
Missense
SNP
0.396
2--
ALPK2p.A202V
Missense
SNP
0.395
2--
ALX1p.R312*
Nonsense
SNP
0.374
3Gain-
ALYREFp.Y146C
Missense
SNP
0.506
2--
AMDHD1-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGEL1p.P650L
Missense
SNP
0.466
2--
ANHX-
-
-
-
3Gain-
ANK3p.R290*
Nonsense
SNP
0.468
2--
ANKLE2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD35p.L206P
Missense
SNP
0.482
2--
ANKRD50p.I1332M
Missense
SNP
0.519
2--
ANKRD52-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APCDD1Lp.Y220C
Missense
SNP
0.462
2--
APOBEC1-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOHp.P53S
Missense
SNP
0.495
2--
APOLD1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARHGAP25p.D388Y
Missense
SNP
0.462
2--
ARHGAP31p.G1235*
Nonsense
SNP
0.485
2--
ARHGAP9p.R342G
Missense
SNP
0.640
3Gain-
ARHGDIBp.A79V
Missense
SNP
0.620
3Gain-
ARHGDIGp.X25_splice
Splice_Site
SNP
0.370
2--
ARHGEF10p.G360R
Missense
SNP
0.474
2--
ARHGEF12p.P1078S
Missense
SNP
0.487
2--
ARHGEF25-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARID2-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL10p.P5A
Missense
SNP
0.493
2--
ARL15p.F18S
Missense
SNP
0.459
2--
ARL6IP4-
-
-
-
3Gain-
ARMCX3p.Y22C
p.A183V
Missense
Missense
SNP
SNP
0.348
0.278
NDND-
ARNTL2-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
ARXp.V64M
Missense
SNP
0.306
NDND-
ASB8-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASS1p.A258T
Missense
SNP
0.468
2--
ASTE1p.A467S
Missense
SNP
0.438
2--
ATAD2p.G561R
Missense
SNP
0.507
2--
ATAD3Ap.R256H
Missense
SNP
0.639
2--
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG4Bp.G254C
Missense
SNP
0.518
2--
ATG9Bp.R524H
Missense
SNP
0.519
2--
ATL2p.L478R
Missense
SNP
0.478
2--
ATN1-
-
-
-
3Gain-
ATP10Ap.G1328R
Missense
SNP
0.450
2--
ATP10Dp.L839I
Missense
SNP
0.496
2--
ATP11Cp.A468T
Missense
SNP
0.290
NDND-
ATP1A1p.E1003K
p.Y1023C
Missense
Missense
SNP
SNP
0.487
0.477
2--
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP8B3p.L222P
p.P218L
Missense
Missense
SNP
SNP
0.381
0.624
2--
ATXN2-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AURKAp.H366R
Missense
SNP
0.495
2--
AVIL-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AVPR1Bp.V285G
Missense
SNP
0.480
2--
AXIN2p.V539A
p.T536M
Missense
Missense
SNP
SNP
0.525
0.500
2--
B3GAT1p.L115I
Missense
SNP
0.492
2--
B3GNT4-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT4p.R301W
Missense
SNP
0.481
2--
BACE1p.R296H
Missense
SNP
0.419
2--
BAHD1p.A702V
Missense
SNP
0.496
2--
BANPp.A153T
Missense
SNP
0.526
2--
BAZ2A-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BCAR1p.R612W
p.G267C
Missense
Missense
SNP
SNP
0.489
0.485
2--
BCAS4p.P200T
Missense
SNP
0.537
2--
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCKDHBp.R111*
Nonsense
SNP
0.383
2--
BCL2L14-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BEND3p.D364G
Missense
SNP
0.458
2--
BEST3-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BICC1p.A3T
Missense
SNP
0.560
2--
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIN3p.K113R
Missense
SNP
0.485
2--
BLACEp.I5S
Missense
SNP
0.508
NDND-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BMPR2-
-
-
-
2-BMPR2--FAM117B
BORCS5-
-
-
-
3Gain-
BRAFp.V600E
Missense
SNP
0.421
2--
BRAP-
-
-
-
3Gain-
BRI3BP-
-
-
-
3Gain-
BRINP3p.K541T
Missense
SNP
0.526
3Gain-
BTBD11-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
C10orf71p.A11V
Missense
SNP
0.444
2--
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C14orf37p.A151V
Missense
SNP
0.512
NDND-
C1GALT1C1p.H37P
Missense
SNP
0.668
NDND-
C1orf204p.A149T
Missense
SNP
0.534
NDND-
C1orf228p.A23T
Missense
SNP
0.479
NDND-
C1QL4-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2CD4Dp.P184L
Missense
SNP
0.435
2--
C2CD5-
-
-
-
3Gain-
C2orf16p.L1534H
Missense
SNP
0.468
2--
C3AR1-
-
-
-
3Gain-
C4B-
-
-
-
1Loss-
CA4p.A13V
Missense
SNP
0.429
2--
CABP1-
-
-
-
3Gain-
CACNA1Ap.P2421V
Missense
DNP
0.481
2--
CACNA1Bp.S761L
Missense
SNP
0.387
2--
CACNA1Cp.A1668T
Missense
SNP
0.315
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CADM2-
-
-
-
3Gain-
CALCOCO1-
-
-
-
3Gain-
CALCRLp.R355*
Nonsense
SNP
0.534
2--
CAMKK2-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CAPNS1p.F164S
Missense
SNP
0.500
2--
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CARD10p.A310P
Missense
SNP
1.000
2--
CARNS1p.L454P
p.S528N
p.R809W
Missense
Missense
Missense
SNP
SNP
SNP
0.579
0.416
0.520
2--
CASC1-
-
-
-
3Gain-
CATIPp.F354L
Missense
SNP
0.424
2--
CBLN4p.T134P
Missense
SNP
0.423
2--
CBX5-
-
-
-
3Gain-
CCDC102Bp.D477Y
Missense
SNP
0.401
2--
CCDC13p.L415P
Missense
SNP
0.540
2--
CCDC184-
-
-
-
3Gain-
CCDC27p.R76W
Missense
SNP
0.516
2--
CCDC38-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65p.X394_splice
Splice_Site
SNP
0.693
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC94p.E170K
Missense
SNP
0.593
NDND-
CCER1-
-
-
-
3Gain-
CCND2-
-
-
-
3Gain-
CCNJp.S267L
Missense
SNP
0.494
2--
CCNT1-
-
-
-
3Gain-
CCNYL1p.N180D
Missense
SNP
0.521
2--
CCSER1p.L531R
Missense
SNP
0.560
2--
CCT2-
-
-
-
3Gain-
CD101p.D772A
Missense
SNP
0.489
2--
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD22p.E203*
Nonsense
SNP
0.444
2--
CD27-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD53p.R165Q
Missense
SNP
0.484
2--
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDC42BPGp.V304M
p.V205A
Missense
Missense
SNP
SNP
0.513
0.502
2--
CDCA3-
-
-
-
3Gain-
CDH4p.W113C
Missense
SNP
0.361
2--
CDH5p.R621Q
Missense
SNP
0.524
2--
CDK17-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4p.R210Q
Missense
SNP
0.420
3Gain-
CDK5p.R200W
Missense
SNP
0.513
2--
CDK5R2p.G357R
Missense
SNP
0.471
2--
CDKN1B-
-
-
-
3Gain-
CDRT1p.I76T
Missense
SNP
0.478
2--
CECR6p.G159S
Missense
SNP
1.000
NDND-
CELA1-
-
-
-
3Gain-
CELF3p.X76_splice
Splice_Site
SNP
0.446
2--
CELSR1p.R2406*
p.R291H
Nonsense
Missense
SNP
SNP
1.000
1.000
2--
CEMIPp.G118D
Missense
SNP
0.591
2--
CEP290p.X314_splice
Splice_Site
SNP
0.297
3Gain-
CEP295p.L482R
Missense
SNP
0.446
2--
CEP63p.W43R
Missense
SNP
0.449
2--
CEP83-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CES2p.G88D
Missense
SNP
0.525
2--
CFAP221p.G716R
Missense
SNP
0.519
2--
CFAP47p.D385G
Missense
SNP
0.404
NDND-
CFAP54-
-
-
-
3Gain-
CFAP65p.S48R
Missense
SNP
0.535
2--
CFAP73-
-
-
-
3Gain-
CFHp.G486E
Missense
DNP
0.440
2--
CFHR4p.D424N
Missense
SNP
0.456
2--
CGRRF1p.P238S
Missense
SNP
0.471
2--
CHCHD2p.A37V
Missense
SNP
0.350
2--
CHCHD7p.S43L
Missense
SNP
0.457
2--
CHD4-
-
-
-
3Gain-
CHFR-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRNA4p.L619M
Missense
SNP
0.524
2--
CHST11-
-
-
-
3Gain-
CHST2p.D441N
Missense
SNP
0.524
2--
CHST7p.G415S
Missense
SNP
0.355
NDND-
CICp.R863C
Missense
SNP
0.514
2--
CIT-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CLASP2p.R1236W
Missense
SNP
0.428
2--
CLASRPp.D81N
Missense
SNP
0.523
2--
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC16Ap.T848A
Missense
SNP
0.366
2--
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLHC1p.X272_splice
Splice_Site
SNP
0.471
2--
CLIP1-
-
-
-
3Gain-
CLIP2p.M653V
Missense
SNP
0.516
2--
CLLU1OS-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLTAp.R213W
Missense
SNP
0.529
2--
CMAS-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CNN1p.D52G
Missense
SNP
0.508
2--
CNOT2-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN6p.G664S
Missense
SNP
0.417
2--
CNTNAP2-
-
-
-
4Gain-
COL15A1p.D639G
Missense
SNP
0.547
2--
COL2A1-
-
-
-
3Gain-
COL5A1p.G607R
Missense
SNP
0.463
2--
COLQp.G231*
Nonsense
SNP
0.551
2--
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
CPp.P87S
Missense
SNP
0.546
2--
CPM-
-
-
-
3Gain-
CPNE8-
-
-
-
3Gain-
CPSF4Lp.R73Q
Missense
SNP
0.441
2--
CPSF6-
-
-
-
3Gain-
CPXM1p.V356M
Missense
SNP
0.437
2--
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CRATp.K426E
Missense
SNP
0.438
2--
CRB1p.K553T
Missense
SNP
0.513
2--
CREB3L1p.S68R
Missense
SNP
0.464
2--
CREBL2-
-
-
-
3Gain-
CRIPAKp.H442N
Missense
SNP
0.423
NDND-
CRTAC1p.H556R
Missense
SNP
0.585
2--
CRY1-
-
-
-
3Gain-
CSp.K382R
Missense
SNP
0.612
3Gain-
CSAD-
-
-
-
3Gain-
CSMD1p.I1814F
Missense
SNP
0.444
2--
CSNK2A1p.Y125C
Missense
SNP
0.365
2--
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CSTBp.Y97*
Nonsense
SNP
0.508
2--
CTAGE1p.R556S
Missense
SNP
0.440
2--
CTAGE8-
-
-
-
1Loss-
CTC-260F20.3p.A106V
Missense
SNP
0.467
NDND-
CTDSP2-
-
-
-
3Gain-
CTPS1p.G558D
Missense
SNP
0.503
2--
CUBNp.N2576D
Missense
SNP
0.410
2--
CUX2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP26C1p.A164V
Missense
SNP
0.466
2--
CYP27B1-
-
-
-
3Gain-
CYP2E1-
-
-
-
3Gain-
DACH1-
-
-
-
3Gain-
DACT3p.P495H
Missense
SNP
0.541
2--
DAO-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DBX2-
-
-
-
3Gain-
DCCp.P234T
Missense
SNP
0.446
2--
DCD-
-
-
-
3Gain-
DCHS2p.A309D
Missense
SNP
0.435
2--
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCST2p.M314L
Missense
SNP
0.591
2--
DCTN2-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDNp.Q29*
Nonsense
SNP
0.331
3Gain-
DDX11p.K209N
Missense
SNP
0.232
3Gain-
DDX23-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC1Bp.Y156C
Missense
SNP
0.503
2--
DEPDC4-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DGKAp.P454S
Missense
SNP
0.356
3Gain-
DHHp.G304S
Missense
SNP
0.665
3Gain-
DHX37p.R1097G
Missense
SNP
0.320
3Gain-
DIABLO-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DISP1p.S957L
Missense
SNP
0.534
2--
DMRTA2p.R105C
Missense
SNP
0.500
2--
DNAH1p.H3607L
Missense
SNP
0.497
2--
DNAH10p.Q3307H
Missense
SNP
0.300
3Gain-
DNAH11p.L1636F
Missense
SNP
0.470
2--
DNAH3p.F2236V
Missense
SNP
0.433
2--
DNAJC14-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC6p.R806*
Nonsense
SNP
0.539
2--
DNM1p.L452I
Missense
SNP
0.533
2--
DNM1L-
-
-
-
3Gain-
DNMT1p.V1284A
Missense
SNP
0.437
2--
DOC2Bp.A60T
Missense
SNP
0.643
2--
DOCK3p.E901D
p.H1605R
Missense
Missense
SNP
SNP
0.647
0.479
2--
DOCK6-
-
-
-
3Gain-
DPCR1p.A1237T
Missense
SNP
0.459
NDND-
DPPA3-
-
-
-
3Gain-
DPTp.S47G
Missense
SNP
0.502
2--
DPY19L2p.R147H
Missense
SNP
0.307
3Gain-
DRAM1-
-
-
-
3Gain-
DRD3p.P247L
Missense
SNP
0.457
2--
DRD4p.A234V
Missense
SNP
0.505
2--
DSEp.K834E
Missense
SNP
0.362
2--
DSPPp.S293G
Missense
SNP
0.541
2--
DSTYKp.G30V
Missense
SNP
0.435
2--
DTD1p.V133A
Missense
SNP
0.401
2--
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
ECT2p.X749_splice
Splice_Site
SNP
0.509
2--
EDRF1p.R953*
Nonsense
SNP
0.454
2--
EEA1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EFNA1p.L197F
Missense
SNP
0.485
2--
EGFL6p.A48V
Missense
SNP
0.401
NDND-
EGR4p.P376L
Missense
SNP
0.493
2--
EHBP1p.V29A
Missense
SNP
0.421
2--
EID3-
-
-
-
3Gain-
EIF1-
-
-
-
2-EIF1--FCGBP
EIF2B1-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF3Gp.S217R
Missense
SNP
0.502
2--
EIF4B-
-
-
-
3Gain-
EIF4G1p.R901C
Missense
SNP
0.440
2--
ELK3-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EMP1-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
EOMESp.R602S
Missense
SNP
0.495
2--
EP400-
-
-
-
3Gain-
EPB41p.T798S
Missense
SNP
0.388
2--
EPB41L1p.A143E
Missense
SNP
0.472
2--
EPHA5p.Q511H
Missense
SNP
0.554
2--
EPHA7p.R811W
Missense
SNP
0.436
2--
EPS8-
-
-
-
3Gain-
EPS8L1p.R290C
Missense
SNP
0.502
2--
EPYC-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EVCp.A756T
Missense
SNP
0.652
2--
EYSp.R164Q
Missense
SNP
0.538
2--
F10p.A474T
Missense
SNP
0.494
2--
FAIM2-
-
-
-
3Gain-
FAM117B-
-
-
-
2-BMPR2--FAM117B
FAM161Ap.E477K
p.C426R
Missense
Missense
SNP
SNP
0.463
0.506
2--
FAM179Bp.R722W
Missense
SNP
0.372
NDND-
FAM184Ap.P1109S
Missense
SNP
0.479
2--
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM193Ap.E838*
Nonsense
SNP
0.485
2--
FAM199Xp.D45N
Missense
SNP
0.328
NDND-
FAM19A2-
-
-
-
3Gain-
FAM213Ap.V212I
Missense
SNP
0.474
NDND-
FAM216A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM71C-
-
-
-
3Gain-
FAM9Bp.G25*
Nonsense
SNP
0.358
NDND-
FAR2-
-
-
-
3Gain-
FAT4p.A4625T
Missense
SNP
0.549
2--
FBLL1p.A229V
Missense
SNP
0.530
2--
FBN2p.A1032S
Missense
SNP
0.469
2--
FBN3p.R2688*
Nonsense
SNP
0.419
2--
FBRSL1-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL18p.R672W
Missense
SNP
0.115
2--
FBXL19p.P191T
Missense
SNP
0.549
2--
FBXL8p.L354M
Missense
SNP
0.472
2--
FBXO21-
-
-
-
3Gain-
FBXO40p.H565R
Missense
SNP
0.437
2--
FBXW10p.P223T
Missense
SNP
0.435
2--
FBXW8-
-
-
-
3Gain-
FCGBP-
-
-
-
2-EIF1--FCGBP
FDPSp.D317G
Missense
SNP
0.481
2--
FEVp.A165P
Missense
SNP
0.475
2--
FGD4-
-
-
-
3Gain-
FGD6p.E795A
Missense
SNP
0.649
3Gain-
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FHDC1p.H593R
Missense
SNP
0.498
2--
FIBCD1p.F449C
Missense
SNP
0.489
2--
FICD-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP8p.S130L
Missense
SNP
0.386
2--
FLG2-
-
-
-
3Gain-
FLNAp.G1302D
Missense
SNP
0.320
NDND-
FLNBp.T1076M
Missense
SNP
0.502
2--
FLRT2p.S173N
Missense
SNP
0.536
3Gain-
FMNL2p.F14I
Missense
SNP
0.514
2--
FMNL3-
-
-
-
3Gain-
FOXC1p.F167I
Missense
SNP
0.445
2--
FOXE3p.D110N
Missense
SNP
0.539
2--
FOXG1-
-
-
-
3Gain-
FOXJ2-
-
-
-
3Gain-
FOXK1p.V676A
Missense
SNP
0.423
2--
FOXM1-
-
-
-
3Gain-
FOXN4-
-
-
-
3Gain-
FRG2B-
-
-
-
3Gain-
FRMPD3p.R1386H
Missense
SNP
0.667
NDND-
FRS2-
-
-
-
3Gain-
FSIP2p.X343_splice
Splice_Site
SNP
0.561
2--
FUT9p.M50T
Missense
SNP
0.498
2--
FZD10-
-
-
-
3Gain-
FZD7p.Y179C
Missense
SNP
0.461
2--
GABARAPL1-
-
-
-
3Gain-
GABPB2p.D304V
Missense
SNP
0.534
2--
GAL3ST4p.A368V
Missense
SNP
0.465
2--
GALNT14p.V540I
Missense
SNP
0.548
2--
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GAR1p.G61D
Missense
SNP
0.496
2--
GAS2L3-
-
-
-
3Gain-
GATAD2Bp.R310H
Missense
SNP
0.472
2--
GATC-
-
-
-
3Gain-
GCC1p.R558Q
Missense
SNP
0.510
2--
GCGRp.X91_splice
Splice_Site
SNP
0.565
2--
GCN1-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF6p.R62W
Missense
SNP
0.513
2--
GET4p.F203L
Missense
SNP
0.477
2--
GFPT1p.P109T
Missense
SNP
0.405
2--
GINS4p.K200M
Missense
SNP
0.414
2--
GIT2-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLRX3p.N134D
Missense
SNP
0.500
2--
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLTSCR1p.N1324I
Missense
SNP
0.493
NDND-
GNB3-
-
-
-
3Gain-
GNPTAB-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPM6Ap.A223T
Missense
SNP
0.545
2--
GPN3-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR37L1p.Q306K
Missense
SNP
0.489
2--
GPR39p.R375H
Missense
SNP
0.523
2--
GPR84-
-
-
-
3Gain-
GPR89A-
-
-
-
1Loss-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GREB1Lp.A971V
Missense
SNP
0.542
2--
GRIA3p.Q619*
Nonsense
SNP
0.273
NDND-
GRIN2B-
-
-
-
3Gain-
GRIP1p.R905C
Missense
SNP
0.381
3Gain-
GRM1p.S1163R
Missense
SNP
0.493
2--
GSE1p.R361C
Missense
SNP
0.467
2--
GSG1-
-
-
-
3Gain-
GSG2p.H746R
Missense
SNP
0.504
NDND-
GTF2H3-
-
-
-
3Gain-
GTF3C1p.R1514Q
Missense
SNP
0.372
2--
GTSF1p.A55V
Missense
SNP
0.341
3Gain-
GUCY1A2p.E679K
Missense
SNP
0.414
2--
GUCY2C-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HBQ1p.L49M
Missense
SNP
0.509
2--
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HEATR4p.Y344*
Nonsense
SNP
0.480
2--
HEBP1-
-
-
-
3Gain-
HECTD4p.L3686P
p.K1147N
Missense
Missense
SNP
SNP
0.640
0.653
3Gain-
HECW1p.A775S
Missense
SNP
0.462
2--
HECW2p.R1119Q
p.A422V
Missense
Missense
SNP
SNP
0.492
0.465
2--
HELB-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
1Loss-
HIST4H4-
-
-
-
3Gain-
HMCN2p.P3867H
Missense
SNP
0.526
2--
HMGA2-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNRNPA1-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HRp.S930P
Missense
SNP
0.455
2--
HRK-
-
-
-
3Gain-
HSD17B6-
-
-
-
3Gain-
HSH2Dp.A282T
Missense
SNP
0.466
2--
HSP90B1-
-
-
-
3Gain-
HSPA1Lp.D595N
Missense
SNP
0.505
2--
HSPB8-
-
-
-
3Gain-
HUNKp.D494N
Missense
SNP
0.568
2--
HVCN1-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IARSp.F339S
Missense
SNP
0.525
2--
IBTKp.I526V
Missense
SNP
0.531
2--
ICA1-
-
-
-
3Gain-
ICAM4p.R26C
Missense
SNP
0.533
2--
IDI1p.T141M
Missense
SNP
0.422
2--
IFFO1-
-
-
-
3Gain-
IFIT1p.Q410H
Missense
SNP
0.449
2--
IFNG-
-
-
-
3Gain-
IFT74p.F191L
Missense
SNP
0.370
2--
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF2Rp.Y2115C
Missense
SNP
0.440
2--
IGFBP6-
-
-
-
3Gain-
IGSF11p.I354M
Missense
SNP
0.442
2--
IGSF9Bp.A804T
Missense
SNP
0.440
2--
IKBIP-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL18RAPp.T401M
Missense
SNP
0.461
2--
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL2RGp.Y189H
Missense
SNP
0.242
NDND-
IL31-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBAp.K163E
Missense
SNP
0.542
2--
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IQCB1-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IRAK2p.S172L
Missense
SNP
0.525
2--
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF9p.R13W
Missense
SNP
0.486
2--
IRX1p.G121D
Missense
SNP
0.457
2--
ISCU-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA4p.G31S
Missense
SNP
0.454
2--
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA9p.L645M
Missense
SNP
0.531
2--
ITGADp.D529G
Missense
SNP
0.538
2--
ITGB7-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
IZUMO4p.T221P
Missense
SNP
0.363
2--
JMYp.Y443H
Missense
SNP
0.426
2--
KALRNp.R1137C
Missense
SNP
0.453
2--
KANK2-
-
-
-
3Gain-
KANSL1Lp.E474K
Missense
SNP
0.558
2--
KANSL2-
-
-
-
3Gain-
KAZNp.T416M
Missense
SNP
0.267
2--
KCNA1-
-
-
-
3Gain-
KCNA4p.C586F
Missense
SNP
0.484
2--
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNG3p.A86V
Missense
SNP
0.481
2--
KCNH3-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNK15p.G201D
Missense
SNP
0.530
2--
KCNMA1p.D1107N
Missense
SNP
0.511
2--
KCNMB4-
-
-
-
3Gain-
KCNS2p.V230M
Missense
SNP
0.429
2--
KCTD10-
-
-
-
3Gain-
KDF1p.R146W
Missense
SNP
0.555
2--
KDM2B-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KIAA0319p.R791*
Nonsense
SNP
0.504
2--
KIAA0368p.T911N
Missense
SNP
0.429
NDND-
KIAA0556p.V970I
Missense
SNP
0.495
2--
KIAA0895Lp.P164T
Missense
SNP
0.443
2--
KIAA1109p.A3291T
Missense
SNP
0.294
2--
KIAA1217p.S930L
Missense
SNP
0.449
2--
KIAA1551-
-
-
-
3Gain-
KIF13Bp.E944K
Missense
SNP
0.500
2--
KIF21A-
-
-
-
3Gain-
KIF3Cp.S216C
Missense
SNP
0.463
2--
KIF5A-
-
-
-
3Gain-
KIF5Bp.A461V
Missense
SNP
0.452
2--
KIF7p.R691C
Missense
SNP
0.527
2--
KITLG-
-
-
-
3Gain-
KLC3p.E50D
Missense
SNP
0.614
2--
KLF9p.V43A
Missense
SNP
0.435
2--
KLHL1-
-
-
-
3Gain-
KLHL34p.S584L
p.T260M
Missense
Missense
SNP
SNP
0.403
0.347
NDND-
KLHL42-
-
-
-
3Gain-
KLK14p.A60V
Missense
SNP
0.549
2--
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2Bp.D1349E
Missense
SNP
0.404
2--
KMT2Dp.Q1302R
Missense
SNP
0.309
3Gain-
KMT5A-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA5p.A103T
Missense
SNP
0.472
2--
KRAS-
-
-
-
3Gain-
KREMEN2p.T374M
Missense
SNP
0.432
2--
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT12p.M129I
Missense
SNP
0.463
2--
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP19-1p.G61C
Missense
SNP
0.466
2--
KSR2-
-
-
-
3Gain-
KYp.A446V
Missense
SNP
0.506
2--
LACRT-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMB3p.C584*
Nonsense
SNP
0.462
2--
LARP4-
-
-
-
3Gain-
LARS2p.E294K
Missense
SNP
0.485
2--
LCE5Ap.S61I
Missense
SNP
0.443
2--
LDHB-
-
-
-
3Gain-
LDLR-
-
-
-
3Gain-
LDOC1p.P47L
p.A18T
Missense
Missense
SNP
SNP
0.363
0.361
NDND-
LEKR1p.L102H
Missense
SNP
0.452
2--
LEMD3-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LGR5-
-
-
-
3Gain-
LHPPp.E177V
Missense
SNP
0.416
2--
LHX5-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIN28Ap.R132Q
Missense
DNP
0.479
2--
LIN7A-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMTK3p.A1076T
Missense
SNP
0.523
2--
LOXHD1p.R615Q
p.K82E
Missense
Missense
SNP
SNP
0.537
0.447
2--
LOXL2p.R338C
Missense
SNP
0.502
2--
LOXL4p.R427C
Missense
SNP
0.404
2--
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LRCH4p.V663I
Missense
SNP
0.568
2--
LRCOL1-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP2p.D297Y
Missense
SNP
0.541
2--
LRP6-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC75Bp.L215P
Missense
SNP
1.000
2--
LRRIQ1-
-
-
-
3Gain-
LRRIQ3p.T128A
Missense
SNP
0.496
2--
LRRK1p.V1320A
Missense
SNP
0.470
2--
LRRK2-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LY6G5Bp.T27M
Missense
SNP
0.516
2--
LYZ-
-
-
-
3Gain-
LZICp.L138I
Missense
SNP
0.486
2--
M6PR-
-
-
-
3Gain-
MAD1L1p.L113I
Missense
SNP
0.512
2--
MADCAM1p.R188H
Missense
SNP
0.565
2--
MAFAp.E251D
Missense
SNP
0.408
2--
MAGEB5p.I140T
Missense
SNP
0.308
NDND-
MAGEB6P1p.A365S
Missense
SNP
0.330
NDND-
MAGEC1p.D91N
p.S713R
Missense
Missense
SNP
SNP
0.335
0.381
NDND-
MAGI2p.X180_splice
Splice_Site
SNP
0.486
2--
MAGOHB-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP3K1p.V569I
Missense
SNP
0.506
2--
MAP3K12p.G229C
Missense
SNP
0.385
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MAPKBP1p.X725_splice
Splice_Site
SNP
0.388
2--
MARCH9-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MAST2p.R1202P
Missense
SNP
0.484
2--
MAST4p.T1769M
Missense
SNP
0.517
2--
MBD1p.N554S
Missense
SNP
0.429
2--
MBD6-
-
-
-
3Gain-
MCIDASp.A252V
Missense
SNP
0.477
2--
MCOLN1p.R318C
Missense
SNP
0.598
2--
MCRS1p.E183V
Missense
SNP
0.684
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MED13p.X2098_splice
Splice_Site
SNP
0.481
2--
MED13L-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MEGF8p.S1358P
Missense
SNP
0.502
2--
MEI1p.A1074V
Missense
SNP
1.000
2--
MELTFp.A383V
Missense
SNP
0.404
2--
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL11Bp.V134I
Missense
SNP
0.397
2--
METTL13p.S99G
Missense
SNP
0.391
2--
METTL25p.R232S
Missense
SNP
0.555
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MEX3Bp.P211S
Missense
SNP
0.499
2--
MFAP5-
-
-
-
3Gain-
MFSD5-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT5p.C145R
Missense
SNP
0.459
2--
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MLXIPLp.E30Q
Missense
SNP
0.444
2--
MMAB-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP28p.Y283C
p.A206V
Missense
Missense
SNP
SNP
0.496
0.563
2--
MMS22Lp.H1047Y
Missense
SNP
0.448
2--
MOB4p.A102T
Missense
SNP
0.447
2--
MON2-
-
-
-
3Gain-
MORC4p.D88N
Missense
SNP
0.297
NDND-
MORN3-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MPLp.G343E
Missense
SNP
0.379
2--
MPOp.E282K
Missense
SNP
0.455
2--
MPZL2p.H80R
Missense
SNP
0.540
2--
MRM3p.A259T
Missense
SNP
0.576
2--
MROH2Ap.Q997K
Missense
SNP
0.526
2--
MRPL42-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTF2p.G486*
Nonsense
SNP
0.444
2--
MUC19-
-
-
-
3Gain-
MUC5Bp.P1436L
Missense
SNP
0.446
2--
MUCL1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MXRA5p.Q486R
Missense
SNP
0.331
NDND-
MYBPC1-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH8p.D1344N
Missense
SNP
0.538
2--
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYO15Bp.A1123V
Missense
SNP
0.445
2--
MYO1A-
-
-
-
3Gain-
MYO1Gp.Q420L
Missense
SNP
0.484
2--
MYO1H-
-
-
-
3Gain-
MYOZ1p.A157V
Missense
SNP
0.519
2--
MYRFL-
-
-
-
3Gain-
MZT2Ap.Q155H
Missense
SNP
0.515
2--
NAA25-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NALCNp.R297H
Missense
SNP
0.482
2--
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L6p.E104V
Missense
SNP
0.282
NDND-
NAT8p.P50A
Missense
SNP
0.504
2--
NAV3-
-
-
-
3Gain-
NBPF15-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NCAPD2-
-
-
-
3Gain-
NCBP2p.R91C
Missense
SNP
0.491
2--
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCOR1p.A317S
Missense
SNP
0.412
2--
NCOR2-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NEBp.R8481*
Nonsense
SNP
0.490
2--
NECAP1-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEFMp.R204H
Missense
SNP
0.470
2--
NEIL2p.Q284*
Nonsense
SNP
0.484
2--
NEK4p.L56I
Missense
SNP
0.479
2--
NELL2-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NEUROD4-
-
-
-
3Gain-
NFE2-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NHSp.R137W
Missense
SNP
0.385
NDND-
NID1p.C414R
Missense
SNP
0.484
2--
NINJ2p.A23T
Missense
SNP
0.611
3Gain-
NIPBLp.R834*
p.M2398T
Nonsense
Missense
SNP
SNP
0.461
0.492
2--
NKIRAS2p.G45S
Missense
SNP
0.564
2--
NKX2-3p.A294V
Missense
SNP
0.488
2--
NKX2-6p.V137M
Missense
SNP
0.466
2--
NLGN3p.M457V
Missense
SNP
0.303
NDND-
NLRC5p.L28P
p.A728T
p.D1782V
Missense
Missense
Missense
SNP
SNP
SNP
0.580
0.456
0.448
2--
NLRP4p.Q533K
Missense
SNP
0.528
2--
NOC4L-
-
-
-
3Gain-
NOGp.R182C
Missense
SNP
0.474
2--
NOL4p.L585M
Missense
SNP
0.487
2--
NOMO1-
-
-
-
2-NOMO1--RNA5-8SN2
NOP2-
-
-
-
3Gain-
NOP56p.P506H
Missense
SNP
0.492
2--
NOS1-
-
-
-
3Gain-
NOTCH4p.T1083A
Missense
SNP
0.533
2--
NOVA1-
-
-
-
3Gain-
NPAP1p.A561T
Missense
SNP
0.540
2--
NPAS4p.V167M
Missense
SNP
0.485
2--
NPFF-
-
-
-
3Gain-
NPWp.E122*
Nonsense
SNP
0.583
2--
NR1H3p.R160L
Missense
SNP
0.483
2--
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR4A1-
-
-
-
3Gain-
NRIP2-
-
-
-
3Gain-
NSUN2p.P504H
Missense
SNP
0.462
2--
NSUN6p.G328E
Missense
SNP
0.569
2--
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUDT11p.R40W
Missense
SNP
0.341
NDND-
NUDT4-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP210p.R1871H
Missense
SNP
0.486
2--
NUP37-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OBSCNp.V5179M
p.R6883H
p.G8883D
Missense
Missense
Missense
SNP
SNP
SNP
0.474
0.494
0.502
2--
OGDHLp.A400T
Missense
SNP
0.476
2--
OGFOD2-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR1M1p.L82R
Missense
SNP
0.452
2--
OR2A1-
-
-
-
1Loss-
OR2AP1-
-
-
-
3Gain-
OR51F1p.Y261H
Missense
SNP
0.467
2--
OR52B4p.L84S
Missense
SNP
0.549
2--
OR52E8p.H111R
Missense
SNP
0.468
2--
OR5BS1P-
-
-
-
3Gain-
OR5L1p.D89V
Missense
SNP
0.531
2--
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR7E47P-
-
-
-
3Gain-
OR8S1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSGIN1p.R80L
Missense
SNP
0.518
2--
OTOGL-
-
-
-
3Gain-
OTUD7Ap.R672Q
Missense
SNP
0.470
2--
OVCH1-
-
-
-
3Gain-
OVOS2p.Y1125H
Missense
SNP
0.627
NDND-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P3H2p.S550T
Missense
SNP
0.472
2--
P3H3-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAN2-
-
-
-
3Gain-
PANX2p.R427C
Missense
SNP
1.000
2--
PAPD5p.A107T
Missense
SNP
0.500
NDND-
PARP11-
-
-
-
3Gain-
PARPBP-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX6p.L336I
Missense
SNP
0.543
2--
PCBP2-
-
-
-
3Gain-
PCDH10p.R970H
Missense
SNP
0.393
2--
PCDH17-
-
-
-
3Gain-
PCDH7p.R197C
Missense
SNP
0.606
2--
PCDH9-
-
-
-
3Gain-
PCDHA10p.S679L
Missense
SNP
0.458
2--
PCDHA11p.V507M
Missense
SNP
0.556
2--
PCDHA7p.V740E
Missense
SNP
0.530
2--
PCDHGA11p.A697V
Missense
SNP
0.481
2--
PCDHGA2p.R32H
Missense
SNP
0.496
2--
PCED1B-
-
-
-
3Gain-
PCSK1p.R669Q
Missense
SNP
0.444
2--
PCTPp.L44R
Missense
SNP
0.534
2--
PDE1B-
-
-
-
3Gain-
PDE3A-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDZD4p.L373M
Missense
SNP
0.340
NDND-
PDZD8p.R772C
Missense
SNP
0.467
2--
PDZRN4p.Q177P
Missense
SNP
0.614
3Gain-
PEBP1-
-
-
-
3Gain-
PEG3p.D560V
p.D142N
Missense
Missense
SNP
SNP
0.515
0.465
2--
PELP1p.L416R
Missense
SNP
0.476
2--
PEX5-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PHACTR2p.E68*
Nonsense
SNP
0.438
2--
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF3p.R142Q
Missense
SNP
0.460
2--
PHF8p.A946T
p.R676W
Missense
Missense
SNP
SNP
0.279
0.234
NDND-
PHIPp.V732A
Missense
SNP
0.500
2--
PHKA2p.X1113_splice
Splice_Site
SNP
0.325
NDND-
PHLDA1-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIEZO1p.W1403*
Nonsense
SNP
0.522
2--
PIGGp.R465G
Missense
SNP
0.498
2--
PIGHp.C151R
Missense
SNP
0.514
2--
PIGZp.T542I
Missense
SNP
0.539
2--
PIK3C2G-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PITX1p.L104P
Missense
SNP
0.423
2--
PIWIL1-
-
-
-
3Gain-
PJA1p.T50M
Missense
SNP
0.328
NDND-
PKHD1p.R3482H
Missense
SNP
0.466
2--
PKP2-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCL2p.L172P
Missense
SNP
0.484
2--
PLCZ1-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLXNB2p.V219M
Missense
SNP
1.000
2--
PLXNB3p.A188V
Missense
SNP
0.260
NDND-
PLXNC1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMLp.C754Y
Missense
SNP
0.419
2--
PMP22p.L62M
Missense
SNP
0.642
2--
PNPLA7p.R60G
Missense
SNP
0.543
2--
POC1Ap.V169A
Missense
SNP
0.500
2--
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
POLD2p.S479I
Missense
SNP
0.580
2--
POLE-
-
-
-
3Gain-
POLR1Bp.R1080W
Missense
SNP
0.442
2--
POLR2Ap.X919_splice
Splice_Site
SNP
0.479
2--
POLR3B-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POTECp.L57F
Missense
SNP
0.500
2--
POTEEp.T860S
Missense
SNP
0.370
NDND-
POU5F1Bp.P14H
Missense
SNP
0.481
2--
POU6F1-
-
-
-
3Gain-
PPARGC1Bp.A397V
Missense
SNP
0.392
2--
PPFIA2-
-
-
-
3Gain-
PPFIA3p.R539Q
Missense
SNP
0.460
2--
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM10p.T1144I
Missense
SNP
0.479
2--
PRDM13p.A369V
Missense
SNP
0.592
2--
PRDM16p.A1063T
Missense
SNP
0.463
2--
PRDM4-
-
-
-
3Gain-
PREX2p.A1036V
Missense
SNP
0.474
2--
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKCHp.A299V
Missense
SNP
0.500
2--
PRKCQp.R146W
Missense
SNP
0.451
2--
PRKDCp.V323A
Missense
SNP
0.475
2--
PRMT8-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPF8p.X1874_splice
p.E534*
Splice_Site
Nonsense
SNP
SNP
0.539
0.459
2--
PRPH-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR4-
-
-
-
3Gain-
PRRC2Bp.R262*
Nonsense
SNP
0.462
2--
PSMA3p.D252G
Missense
SNP
0.565
2--
PSMD9-
-
-
-
3Gain-
PTCHD4p.R744Q
Missense
SNP
0.542
2--
PTENp.G251V
Missense
SNP
0.480
2--
PTGDRp.T12A
Missense
SNP
0.385
2--
PTGES3-
-
-
-
3Gain-
PTH2p.P38R
Missense
SNP
0.508
2--
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRNp.K934T
Missense
SNP
0.430
2--
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRUp.P698H
Missense
SNP
0.434
2--
PTTG1IPp.E133G
Missense
SNP
0.486
2--
PUS1-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZPp.N1044K
Missense
SNP
0.275
3Gain-
R3HDM2-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAP1GAPp.A540T
Missense
SNP
0.551
2--
RAPGEF3-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RBFOX3p.I309V
Missense
SNP
0.407
2--
RBM19-
-
-
-
3Gain-
RBM5p.G447D
Missense
SNP
0.488
2--
RBMS2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RELAp.Y349C
Missense
SNP
0.452
2--
RELNp.T1919I
p.K329*
Missense
Nonsense
SNP
SNP
0.518
0.533
2--
REP15-
-
-
-
3Gain-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFTN1p.E230D
Missense
SNP
0.532
2--
RFX4-
-
-
-
3Gain-
RFX7p.Q820R
Missense
SNP
0.572
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOp.Y10C
Missense
SNP
0.528
2--
RHOBTB1p.Y185S
Missense
SNP
0.557
2--
RHOF-
-
-
-
3Gain-
RIC8B-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2p.Y212S
Missense
SNP
0.280
3Gain-
RIMKLB-
-
-
-
3Gain-
RIOK1p.G88*
Nonsense
SNP
0.517
2--
RITA1-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDNOMO1--RNA5-8SN2
STT3A--RNA5-8SN2
SIPA1L2--RNA5-8SN2
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF123p.A477V
Missense
SNP
0.542
2--
RNF17p.H686R
Missense
SNP
0.542
2--
RNF181p.P93L
Missense
SNP
0.609
2--
RNF34-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RPAP2p.R504L
Missense
SNP
0.568
2--
RPAP3-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPL10p.R21C
Missense
SNP
0.342
NDND-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RTFDC1p.V211M
Missense
SNP
0.564
NDND-
RWDD3p.G253V
Missense
SNP
0.540
2--
RXYLT1-
-
-
-
3Gain-
RYR2p.T4072M
Missense
SNP
0.475
2--
RYR3p.R4043H
Missense
SNP
0.471
2--
S1PR5p.R111W
Missense
SNP
0.508
2--
SAFBp.R718W
Missense
SNP
0.436
2--
SAMD7p.N163K
Missense
SNP
0.489
2--
SAP130p.C986L
Missense
DNP
0.420
2--
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SAV1p.R242*
Nonsense
SNP
0.408
2--
SBK1p.T248A
Missense
SNP
0.418
2--
SBK2p.R327H
Missense
SNP
0.536
2--
SBNO1-
-
-
-
3Gain-
SCAF11-
-
-
-
3Gain-
SCAPERp.R590*
Nonsense
SNP
0.457
2--
SCARA5p.A304T
Missense
SNP
0.478
2--
SCARB1-
-
-
-
3Gain-
SCART1-
-
-
-
3Gain-
SCN7Ap.S530M
Missense
DNP
0.298
2--
SCN8A-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCUBE3p.L477R
Missense
SNP
0.470
2--
SCYL2-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEMA3Dp.R113W
Missense
SNP
0.488
2--
SEMA6Ap.Y472C
Missense
SNP
0.482
2--
SEMA7Ap.R261H
Missense
SNP
0.524
2--
SENP1-
-
-
-
3Gain-
SENP7p.K582N
Missense
SNP
0.466
2--
SETD1B-
-
-
-
3Gain-
SFSWAP-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D4Ap.R247C
Missense
SNP
0.453
2--
SH3GL1p.A125V
Missense
SNP
0.534
2--
SH3TC2p.R641H
Missense
SNP
0.447
2--
SHANK1p.V1207M
Missense
SNP
0.548
2--
SHMT2-
-
-
-
3Gain-
SIM1p.X248_splice
Splice_Site
SNP
0.394
2--
SINHCAF-
-
-
-
3Gain-
SIPA1L2p.E1180K
Missense
SNP
0.451
2-SIPA1L2--RNA5-8SN2
SIRT1p.R384*
Nonsense
SNP
0.512
2--
SIRT2p.R381G
Missense
SNP
0.459
2--
SIRT4-
-
-
-
3Gain-
SLC11A2-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A7-
-
-
-
3Gain-
SLC17A8-
-
-
-
3Gain-
SLC22A11p.S332L
Missense
SNP
0.571
2--
SLC22A18p.R89W
Missense
SNP
0.527
2--
SLC25A3-
-
-
-
3Gain-
SLC26A10-
-
-
-
3Gain-
SLC27A6p.Q544*
Nonsense
SNP
0.244
2--
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC2A8p.R215C
Missense
SNP
0.469
2--
SLC34A2p.C622R
Missense
SNP
0.521
2--
SLC35A5p.A375T
Missense
SNP
0.545
2--
SLC35E3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A3p.L178P
Missense
SNP
0.538
2--
SLC38A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC3A1p.G376S
Missense
SNP
0.524
2--
SLC41A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A10p.R63*
Nonsense
SNP
0.455
2--
SLC4A8-
-
-
-
3Gain-
SLC5A11p.A383V
Missense
SNP
0.456
2--
SLC5A5p.F247L
Missense
SNP
0.475
2--
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A5p.S168Y
Missense
SNP
0.474
2--
SLC6A6p.R278C
Missense
SNP
0.484
2--
SLC7A4p.G187*
p.R135H
Nonsense
Missense
SNP
SNP
0.996
1.000
2--
SLC7A8p.W182*
Nonsense
SNP
0.529
2--
SLC8A3p.K601R
Missense
SNP
0.583
2--
SLC8B1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK5p.D161N
Missense
SNP
0.518
3Gain-
SLITRK6-
-
-
-
3Gain-
SMAD3p.H85R
Missense
SNP
0.522
2--
SMAGP-
-
-
-
3Gain-
SMARCA4p.R842W
Missense
SNP
0.494
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMC3p.R186W
Missense
SNP
0.556
2--
SMCO2p.P331S
Missense
SNP
0.646
3Gain-
SMCO3-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTB1p.R241W
Missense
SNP
0.422
2--
SNX13p.Q160H
Missense
SNP
0.645
2--
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS5p.R263M
Missense
SNP
0.416
2--
SOGA3p.R206M
Missense
SNP
0.456
2--
SONp.V1558I
Missense
SNP
0.471
2--
SOX21p.A218T
Missense
SNP
0.651
2--
SOX3p.I26M
Missense
SNP
0.331
NDND-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP140p.G549W
Missense
SNP
0.454
2--
SP7-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPC24-
-
-
-
3Gain-
SPG11p.S464P
Missense
SNP
0.498
2--
SPIC-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTBN4p.A1686V
Missense
SNP
0.582
2--
SPX-
-
-
-
3Gain-
SRCAPp.Q3205R
Missense
SNP
0.543
2--
SRGAP1-
-
-
-
3Gain-
SRGAP2B-
-
-
-
1Loss-
SRPK3p.E501A
Missense
SNP
0.440
NDND-
SRRM4-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SS18p.I16N
Missense
SNP
0.459
2--
SSH1-
-
-
-
3Gain-
SSH2p.A1410T
Missense
SNP
0.462
2--
SSPN-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT4p.I105V
Missense
SNP
0.488
2--
STAT6-
-
-
-
3Gain-
STK38L-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STRN4p.D519Y
p.D419N
Missense
Missense
SNP
SNP
0.500
0.559
2--
STT3A-
-
-
-
2-STT3A--RNA5-8SN2
STX2-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SURF6p.E286K
Missense
SNP
0.497
2--
SVOP-
-
-
-
3Gain-
SYCE1-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TAGAPp.R412H
Missense
SNP
0.483
2--
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TBC1D1p.Q238R
Missense
SNP
0.493
2--
TBC1D15-
-
-
-
3Gain-
TBC1D22Bp.A487V
Missense
SNP
0.420
2--
TBC1D30-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX4p.V55A
Missense
SNP
0.300
2--
TBX5-
-
-
-
3Gain-
TBXA2Rp.R53W
Missense
SNP
0.512
2--
TCF25p.W675G
Missense
SNP
0.479
2--
TCHP-
-
-
-
3Gain-
TCP11L2-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDO2p.E24K
Missense
SNP
0.466
2--
TEAD4-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX13Cp.M421I
Missense
SNP
0.304
NDND-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFAP2Bp.S45L
Missense
SNP
0.449
2--
TFCP2-
-
-
-
3Gain-
TFEBp.R329C
Missense
SNP
0.524
2--
TGFBR1p.X467_splice
Splice_Site
SNP
0.431
2--
THAP2-
-
-
-
3Gain-
TIGAR-
-
-
-
3Gain-
TIMELESS-
-
-
-
3Gain-
TJP2p.E329K
Missense
SNP
0.538
2--
TLE4p.S629I
Missense
SNP
0.472
2--
TM7SF3-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMEM101p.S20L
Missense
SNP
0.507
2--
TMEM102p.D59E
Missense
SNP
0.468
2--
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM131p.A449V
Missense
SNP
0.538
2--
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM143p.L249P
Missense
SNP
0.500
2--
TMEM184Ap.L50I
Missense
SNP
0.488
2--
TMEM19-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM255Bp.S25L
Missense
SNP
0.456
2--
TMEM263-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMIGD2p.L156P
Missense
SNP
0.513
2--
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMX3p.K194N
Missense
SNP
0.423
2--
TNFAIP6p.A42T
Missense
SNP
0.415
2--
TNFRSF1A-
-
-
-
3Gain-
TNKSp.R1161W
Missense
SNP
0.488
2--
TNPO2p.M740I
p.V451I
Missense
Missense
SNP
SNP
0.477
0.440
2--
TNRC18p.R451C
Missense
SNP
0.500
2--
TNRC6Bp.Q1307E
Missense
SNP
1.000
2--
TNS2p.R37K
Missense
SNP
0.295
3Gain-
TNS3p.G934C
Missense
SNP
0.466
2--
TNXB-
-
-
-
1Loss-
TONSLp.D183H
Missense
SNP
0.533
2--
TPCN1-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TRAF7p.R71W
Missense
SNP
0.583
2--
TRAFD1-
-
-
-
3Gain-
TRAV8-7p.E81D
Missense
SNP
0.435
NDND-
TRHDE-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIM10p.V383M
Missense
SNP
0.491
2--
TRIM50p.D431N
Missense
SNP
0.434
2--
TROAP-
-
-
-
3Gain-
TRPC3p.L252V
Missense
SNP
0.433
2--
TRPC5p.R512C
Missense
SNP
0.329
NDND-
TRPM3p.T1290M
Missense
SNP
0.549
2--
TRPM5p.L877P
Missense
SNP
0.464
2--
TRPV4p.E444D
Missense
SNP
0.269
3Gain-
TSC2p.A86V
Missense
SNP
0.475
2--
TSFM-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TTC27p.L376R
Missense
SNP
0.482
2--
TTC28p.V1585M
Missense
SNP
1.000
2--
TTC6p.R64C
Missense
SNP
0.516
2--
TTNp.G30849V
p.R1981K
Missense
Missense
SNP
SNP
0.496
0.509
2--
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBA3Cp.A385T
Missense
SNP
0.524
2--
TUBA3Dp.G17S
Missense
SNP
0.536
2--
TUBB4Ap.T386M
p.L130I
Missense
Missense
SNP
SNP
0.582
0.609
2--
TULP3-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TXNRD1-
-
-
-
3Gain-
TYRP1p.G10C
Missense
SNP
0.489
2--
U2AF1L4p.R174M
Missense
SNP
0.529
2--
UBC-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UEVLDp.X165_splice
Splice_Site
SNP
0.418
2--
UGT1A8p.S141C
Missense
SNP
0.446
2--
UHRF1BP1L-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13Cp.Q1420R
Missense
SNP
0.525
2--
UNG-
-
-
-
3Gain-
URB2p.A1028T
Missense
SNP
0.503
2--
USP15-
-
-
-
3Gain-
USP19p.V498A
Missense
SNP
0.391
2--
USP27Xp.G186R
Missense
SNP
0.604
NDND-
USP30-
-
-
-
3Gain-
USP32p.T734A
Missense
SNP
0.452
2--
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
USP9Xp.A1875V
Missense
SNP
0.326
NDND-
UTP20-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VCAM1p.T79M
Missense
SNP
0.480
2--
VCPIP1p.V221L
Missense
SNP
0.560
2--
VDR-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VPS13Dp.R3316H
Missense
SNP
0.473
2--
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VSIG10p.S87F
Missense
SNP
0.337
3Gain-
VSTM2Lp.G23S
Missense
SNP
0.479
2--
VWA2p.G412D
Missense
SNP
0.462
2--
VWF-
-
-
-
3Gain-
WASp.G465*
Nonsense
SNP
0.346
NDND-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WDFY4p.R94S
Missense
SNP
0.519
2--
WDR45p.R233H
Missense
SNP
0.329
NDND-
WDR66-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNK3p.K1437Q
Missense
SNP
0.369
NDND-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT5Ap.V147M
Missense
SNP
0.468
2--
WNT5B-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
XPNPEP2p.E639K
Missense
SNP
0.264
NDND-
XPOT-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
ZBTB20p.E728K
Missense
SNP
0.493
2--
ZBTB33.
Splice_Site
SNP
0.305
NDND-
ZBTB39-
-
-
-
3Gain-
ZC3H10-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZDHHC20p.F245V
Missense
SNP
0.448
2--
ZFC3H1-
-
-
-
3Gain-
ZFHX4p.E2641K
p.V2648A
Missense
Missense
SNP
SNP
0.466
0.442
2--
ZHX3p.N249K
Missense
SNP
0.469
2--
ZMPSTE24p.K321N
Missense
SNP
0.477
2--
ZMYM2p.L1147I
Missense
SNP
0.489
2--
ZMYND8p.C122Y
Missense
SNP
0.511
2--
ZNF10-
-
-
-
3Gain-
ZNF140-
-
-
-
3Gain-
ZNF185p.A116T
Missense
SNP
0.349
NDND-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF467p.A447V
Missense
SNP
0.414
2--
ZNF469p.N617S
p.T2559I
Missense
Missense
SNP
SNP
0.388
0.597
2--
ZNF518Ap.E95G
Missense
SNP
0.453
2--
ZNF585Bp.G714E
Missense
SNP
0.538
2--
ZNF605-
-
-
-
3Gain-
ZNF641-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF665p.A69V
Missense
SNP
0.468
2--
ZNF687p.L657I
Missense
SNP
0.342
2--
ZNF705A-
-
-
-
3Gain-
ZNF711p.Q127H
Missense
SNP
0.654
NDND-
ZNF740-
-
-
-
3Gain-
ZNF746p.T131M
Missense
SNP
0.506
2--
ZNF804Ap.R770Q
Missense
SNP
0.463
2--
ZNF84-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNRF3p.G96D
Missense
SNP
1.000
2--
ZSCAN12p.T79I
Missense
SNP
0.522
2--
ZWINT-
-
-
-
3Gain-