WU-0021-T2-X1P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
ABCA6p.F1531Sfs*14
p.L306Yfs*7
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.975
0.960
2--
ABCB7p.F522L
Missense
SNP
0.507
NDND-
ABHD12p.H6Afs*63
Frame_Shift_Ins
INS
0.340
2--
AC073612.1-
-
-
-
3Gain-
AC092143.1-
-
-
-
3Gain-
ACAP3-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACRBPp.S359L
Missense
SNP
0.464
2--
ACSF3-
-
-
-
3Gain-
ACTG2p.R29Pfs*30
Frame_Shift_Ins
INS
0.326
2--
ACTL8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.476
2--
ADAM28p.N75Kfs*54
Frame_Shift_Ins
INS
0.311
2--
ADAMTS1p.K735R
Missense
SNP
0.426
2--
ADAMTS18p.K522E
Missense
SNP
0.445
2--
ADAMTS2p.C1080R
Missense
SNP
0.570
2--
ADCY5p.R1098W
Missense
SNP
0.563
2--
ADCY8p.R678Q
Missense
SNP
0.453
2--
ADGRL2p.C602R
Missense
SNP
0.429
2--
ADNP2p.A325Cfs*59
Frame_Shift_Ins
INS
0.269
2--
ADSSL1p.K291Qfs*16
Frame_Shift_Ins
INS
0.260
2--
AGMAT-
-
-
-
1Loss-
AGRN-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AHI1p.T304Nfs*6
Frame_Shift_Ins
INS
0.287
2--
AHNAKp.I1103T
Missense
SNP
0.485
2--
AHNAK2p.D5274V
Missense
MNP
0.545
2--
AJAP1-
-
-
-
1Loss-
AKAP9p.K39Rfs*17
Frame_Shift_Del
DEL
0.491
2--
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALS2CR11p.Q730Tfs*24
p.D428N
Frame_Shift_Ins
Missense
INS
SNP
0.318
0.573
NDND-
AMDHD2p.R346Qfs*56
Frame_Shift_Ins
INS
0.288
2--
ANGPTL7-
-
-
-
1Loss-
ANKRD11-
-
-
-
3Gain-
ANKRD65-
-
-
-
1Loss-
ANTXR2p.L21P
Missense
SNP
0.489
2--
APBA1p.A99V
Missense
SNP
0.481
2--
APCp.D849Rfs*2
p.R232*
Frame_Shift_Ins
Nonsense
INS
SNP
0.362
0.333
2--
APRT-
-
-
-
3Gain-
ARHGAP28p.D197*
Frame_Shift_Ins
INS
0.306
2--
ARHGAP35p.R972Pfs*40
Frame_Shift_Ins
INS
0.320
2--
ARHGAP40p.T470M
Missense
SNP
0.333
2--
ARHGAP5p.N943Kfs*10
Frame_Shift_Ins
INS
0.256
2--
ARHGEF10L-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARID1Ap.D1850Gfs*4
Frame_Shift_Ins
INS
0.467
2--
ARID4Bp.K493*
Nonsense
SNP
0.475
2--
ARL15p.V103Gfs*13
Frame_Shift_Ins
INS
0.293
2--
ASB4p.T375A
Missense
SNP
0.527
2--
ASCC3p.G2096*
p.E530G
Nonsense
Missense
SNP
SNP
0.090
0.578
2--
ASXL1p.G792D
Missense
SNP
0.494
2--
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATMp.K2811Sfs*46
Frame_Shift_Del
DEL
0.296
2--
ATP13A2-
-
-
-
1Loss-
AURKAIP1-
-
-
-
1Loss-
B3GALT6-
-
-
-
1Loss-
BANP-
-
-
-
3Gain-
BAZ1Ap.A74Qfs*12
Frame_Shift_Del
DEL
0.549
2--
BCL9Lp.P449Lfs*14
Frame_Shift_Del
DEL
0.392
2--
BCORp.Q1208Tfs*8
Frame_Shift_Ins
INS
0.305
NDND-
BRWD3p.R1447Q
Missense
SNP
0.489
NDND-
C10orf88p.N134Ifs*2
Frame_Shift_Del
DEL
0.474
2--
C1GALT1-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf168p.E618Rfs*6
Frame_Shift_Ins
INS
0.278
NDND-
C1orf174-
-
-
-
1Loss-
C1QTNF12-
-
-
-
1Loss-
CA5A-
-
-
-
3Gain-
CA6-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CBFA2T3-
-
-
-
3Gain-
CBLN3p.S125G
Missense
SNP
0.420
2--
CBSL-
-
-
-
1Loss-
CC2D1Ap.R783Afs*28
Frame_Shift_Ins
INS
0.265
2--
CCDC27-
-
-
-
1Loss-
CCDC77p.R411C
Missense
SNP
0.380
2--
CCNL2-
-
-
-
1Loss-
CCZ1B-
-
-
-
3Gain-
CDA-
-
-
-
1Loss-
CDCP1p.K474T
Missense
SNP
0.521
2--
CDH1p.E739G
Missense
SNP
0.489
2--
CDH15-
-
-
-
3Gain-
CDK10-
-
-
-
3Gain-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDKN2Dp.N101S
Missense
SNP
0.471
2--
CDT1-
-
-
-
3Gain-
CEBPBp.A60Rfs*181
Frame_Shift_Ins
INS
0.301
2--
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CENPBD1-
-
-
-
3Gain-
CENPEp.I1996Lfs*7
Frame_Shift_Del
DEL
0.422
2--
CENPS-CORT-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP83-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFHR2p.R85G
Missense
SNP
0.389
2--
CHATp.D316G
Missense
SNP
0.378
2--
CHD5-
-
-
-
1Loss-
CHMp.S629R
Missense
SNP
0.367
NDND-
CHMP1A-
-
-
-
3Gain-
CHRNA7p.Q51*
Nonsense
SNP
0.486
2--
CIITAp.X314_splice
Splice_Site
SNP
0.468
2--
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
COL22A1-
-
-
-
1Loss-
COLGALT2p.K158Nfs*9
Frame_Shift_Del
DEL
0.483
2--
CORT-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPNE2p.A74T
Missense
SNP
0.411
2--
CPNE7-
-
-
-
3Gain-
CPTP-
-
-
-
1Loss-
CPXCR1p.C218Sfs*16
Frame_Shift_Del
DEL
0.494
NDND-
CROCC-
-
-
-
1Loss-
CROTp.F86I
Missense
SNP
0.625
2--
CRYAA2-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CYBA-
-
-
-
3Gain-
CYFIP1p.S643P
Missense
SNP
0.408
2--
DAB1p.I116T
Missense
SNP
0.450
2--
DBNDD1-
-
-
-
3Gain-
DCAF12L1p.R408G
Missense
SNP
0.557
NDND-
DDI2-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DEF8-
-
-
-
3Gain-
DENND4Ap.G977Rfs*3
Frame_Shift_Ins
INS
0.333
2--
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHX8p.H32Afs*42
Frame_Shift_Ins
INS
0.493
2--
DIP2Ap.S1145Pfs*18
Frame_Shift_Del
DEL
0.394
2--
DIP2Cp.R86C
Missense
SNP
0.259
2--
DISP3-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DPEP1-
-
-
-
3Gain-
DRAXIN-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EHMT2p.V949M
Missense
SNP
0.463
2--
EIF4G3-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
ENDOUp.N107I
Missense
SNP
0.505
2--
ENO1-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPM2AIP1p.A367T
Missense
SNP
0.341
2--
EPN2p.T470Qfs*5
p.P231L
Frame_Shift_Del
Missense
DEL
SNP
0.581
0.405
2--
ERBB2p.G776V
Missense
SNP
1.000
2--
ERBB3p.E928G
Missense
SNP
0.494
2--
ERRFI1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
F8p.N1460Kfs*2
Frame_Shift_Ins
INS
0.264
NDND-
FAAP20-
-
-
-
1Loss-
FAM104Ap.Q90Pfs*6
Frame_Shift_Ins
INS
0.482
2--
FAM131C-
-
-
-
1Loss-
FAM135Ap.M426T
Missense
SNP
0.338
2--
FAM135B-
-
-
-
1Loss-
FAM196Ap.R246G
Missense
SNP
0.488
NDND-
FAM243B-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM81Bp.S18T
Missense
SNP
0.475
2--
FANCA-
-
-
-
3Gain-
FAT3p.T3619M
Missense
SNP
0.459
2--
FAT4p.A3494D
Missense
SNP
0.398
2--
FBLIM1-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO31-
-
-
-
3Gain-
FBXO42-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO45p.Y124C
Missense
SNP
0.496
2--
FBXO6-
-
-
-
1Loss-
FBXW5p.V546D
Missense
SNP
0.522
2--
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FER1L5p.D1747N
Missense
SNP
0.483
2--
FHAD1-
-
-
-
1Loss-
FILIP1p.T1011M
Missense
SNP
0.478
2--
FILIP1Lp.L750Tfs*16
Frame_Shift_Ins
INS
0.322
2--
FMR1p.H355Tfs*15
Frame_Shift_Ins
INS
0.176
NDND-
FNDC10-
-
-
-
1Loss-
FOXL1p.R158H
Missense
SNP
0.466
2--
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGT-TNNI3Kp.Y85C
Missense
SNP
0.544
2--
FSIP2p.S5488Ffs*16
p.V2642A
Frame_Shift_Ins
Missense
INS
SNP
0.338
0.250
2--
FTSJ1p.Y262H
Missense
SNP
0.421
NDND-
GABRD-
-
-
-
1Loss-
GALNS-
-
-
-
3Gain-
GAS7p.M1?
Frame_Shift_Del
DEL
0.624
2--
GAS8-
-
-
-
3Gain-
GATA6p.X435_splice
Splice_Site
SNP
0.370
2--
GATD3B-
-
-
-
1Loss-
GBP6p.K110R
Missense
SNP
0.189
2--
GCN1-
-
-
-
1Loss-
GFI1-
-
-
-
1Loss-
GGTLC3-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GNAS-
-
-
-
1Loss-
GNB1-
-
-
-
1Loss-
GNL3p.A336G
Missense
SNP
0.447
2--
GPCPD1p.T221A
Missense
SNP
0.418
2--
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPRC5Cp.G366D
Missense
SNP
0.103
2--
GPSM2p.M8T
Missense
SNP
0.280
2--
GRIA3p.I844M
Missense
SNP
0.436
NDND-
GRIN1p.N99Tfs*23
Frame_Shift_Del
DEL
0.390
2--
GRPRp.C113Y
Missense
SNP
0.354
NDND-
GTF3C1p.F1755Lfs*50
Frame_Shift_Del
DEL
0.483
1Loss-
H2BFS-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HBQ1p.Q61R
Missense
SNP
0.479
2--
HCN4p.A1014Lfs*4
Frame_Shift_Del
DEL
0.575
2--
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HOXA5p.A153T
Missense
SNP
0.488
2--
HP1BP3-
-
-
-
1Loss-
HSD17B3p.A283V
Missense
SNP
0.476
2--
HSPB7-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HYOU1p.Y497H
Missense
SNP
0.525
2--
IARS2p.G509D
Missense
SNP
0.542
2--
ICMT-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF8p.G161Rfs*18
Frame_Shift_Ins
INS
0.281
2--
IL17C-
-
-
-
3Gain-
IL21R-
-
-
-
1Loss-
IL27RAp.V368A
Missense
SNP
0.613
2--
IL4R-
-
-
-
1Loss-
INTS11-
-
-
-
1Loss-
IQSEC2p.P533S
Missense
SNP
0.439
NDND-
ISG15-
-
-
-
1Loss-
ITGAEp.L601Pfs*8
Frame_Shift_Ins
INS
0.339
2--
ITIH6p.P1129L
Missense
SNP
0.421
NDND-
IVNS1ABPp.F562Yfs*26
Frame_Shift_Del
DEL
0.106
2--
IYD-
-
-
-
1Loss-
JARID2p.A396Gfs*25
p.R425Afs*99
Frame_Shift_Ins
Frame_Shift_Ins
INS
INS
0.322
0.181
2--
JPH3-
-
-
-
3Gain-
KAZN-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNB1p.K776Qfs*23
Frame_Shift_Ins
INS
0.295
2--
KCNC1p.R33W
Missense
SNP
0.511
2--
KCNN1p.P28H
Missense
SNP
0.571
2--
KHDRBS3-
-
-
-
1Loss-
KIAA0232p.A461S
Missense
SNP
0.436
2--
KIAA0556-
-
-
-
1Loss-
KIAA1468p.E819G
Missense
SNP
0.463
NDND-
KIAA1671p.F1028Lfs*40
Frame_Shift_Del
DEL
0.347
2--
KIAA2013-
-
-
-
1Loss-
KIF17-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF1BPp.I506Nfs*3
Frame_Shift_Ins
INS
0.465
2--
KIF21Ap.K129Nfs*3
Frame_Shift_Del
DEL
0.400
2--
KLHDC4-
-
-
-
3Gain-
KLHDC7A-
-
-
-
1Loss-
KLHL17-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KMT2Bp.K553Qfs*46
Frame_Shift_Ins
INS
0.288
2--
KMT2Cp.R2066*
Nonsense
SNP
0.532
2--
KMT2Dp.Q3919dup
In_Frame_Ins
INS
0.254
2--
KYNUp.R15H
Missense
SNP
0.532
2--
LAMC2p.V643A
Missense
SNP
0.356
2--
LDLRAD2-
-
-
-
1Loss-
LILRA6p.R205Gfs*24
Frame_Shift_Del
DEL
0.158
2--
LONP2p.R759W
Missense
SNP
0.400
2--
LONRF1p.R742Q
Missense
SNP
0.372
2--
LRFN4p.L227Pfs*6
Frame_Shift_Ins
INS
0.321
2--
LRP1p.D4193Rfs*9
Frame_Shift_Ins
INS
0.286
2--
LRRC3p.A99T
Missense
SNP
0.494
2--
LRRC38-
-
-
-
1Loss-
LRRC47-
-
-
-
1Loss-
LURAP1p.R13Q
Missense
SNP
0.364
2--
LUZP1p.R509*
Nonsense
SNP
0.486
2--
LZIC-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MAP1Bp.T1503A
Missense
SNP
0.492
2--
MAP1LC3B-
-
-
-
3Gain-
MASP2-
-
-
-
1Loss-
MAST4p.H880R
Missense
SNP
0.400
2--
MBL2p.G71A
Missense
SNP
0.475
2--
MC1R-
-
-
-
3Gain-
MCAMp.R459Gfs*23
Frame_Shift_Del
DEL
0.469
2--
MCF2L2p.V383G
Missense
SNP
0.514
2--
MDGA2p.N376Kfs*9
Frame_Shift_Ins
INS
0.290
2--
MED12p.L624I
Missense
SNP
0.467
NDND-
MEGF6-
-
-
-
1Loss-
MEIOCp.D880G
Missense
SNP
0.412
2--
METTL7Ap.L212R
Missense
SNP
0.108
2--
MFAP2-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MIB2-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MLIPp.E480Gfs*6
Frame_Shift_Ins
INS
0.350
2--
MMEL1-
-
-
-
1Loss-
MMP23B-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MRPL20-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MSH6p.N404T
Missense
SNP
0.530
2--
MSRAp.K235Nfs*14
Frame_Shift_Del
DEL
0.431
2--
MTHFR-
-
-
-
1Loss-
MTOR-
-
-
-
1Loss-
MUC5Bp.R5131H
Missense
SNP
0.472
2--
MUL1-
-
-
-
1Loss-
MVD-
-
-
-
3Gain-
MXRA8-
-
-
-
1Loss-
MYBp.N715Kfs*12
Frame_Shift_Ins
INS
0.331
2--
MYH1p.R1845H
Missense
SNP
0.596
2--
MYLKp.S1015R
Missense
SNP
0.483
2--
MYO15Ap.K613T
Missense
SNP
0.525
2--
MYO1Ap.L500R
Missense
SNP
0.482
2--
N4BP2p.Y711Ifs*45
Frame_Shift_Del
DEL
0.141
2--
NAA16p.E630D
Missense
SNP
0.543
2--
NADK-
-
-
-
1Loss-
NAV3p.P1741L
p.L2294I
Missense
Missense
SNP
SNP
0.255
0.067
2--
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NCAPD3p.X490_splice
p.R207Q
Splice_Site
Missense
SNP
SNP
0.536
0.406
2--
NCOR2p.R986Pfs*76
Frame_Shift_Ins
INS
0.281
2--
NDST4p.T605Nfs*22
Frame_Shift_Ins
INS
0.086
2--
NECAP2-
-
-
-
1Loss-
NELFCD-
-
-
-
1Loss-
NFATC3p.S690Kfs*22
Frame_Shift_Ins
INS
0.360
2--
NFE2p.S90P
Missense
SNP
0.376
2--
NHSL1p.T97R
Missense
SNP
0.416
2--
NMNAT1-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOS3p.C441Lfs*57
Frame_Shift_Ins
INS
0.292
2--
NPHP4-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPR1p.L23P
Missense
SNP
0.475
2--
NRAP-
-
-
-
1Loss-
NRARPp.S58P
Missense
SNP
0.412
2--
NSMCE1-
-
-
-
1Loss-
NUP188p.L253P
Missense
SNP
0.500
2--
OBSCNp.E3977A
Missense
SNP
0.533
2--
OLFM1-
-
-
-
1Loss-
OR10R2p.T295M
Missense
SNP
0.491
2--
OR1D2p.T167A
Missense
SNP
0.523
2--
OR51S1p.G226S
Missense
SNP
0.495
2--
OR8D4p.F104Sfs*48
Frame_Shift_Del
DEL
0.483
2--
ORC3p.R368H
Missense
SNP
0.462
2--
OSBPL1Ap.N793Mfs*15
Frame_Shift_Del
DEL
0.480
2--
OSBPL7p.D729Rfs*3
Frame_Shift_Ins
INS
0.244
2--
OTUD3-
-
-
-
1Loss-
PABPN1L-
-
-
-
3Gain-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAK4p.R96H
Missense
SNP
0.108
2--
PANK4-
-
-
-
1Loss-
PARK2p.V330Rfs*17
Frame_Shift_Ins
INS
0.287
NDND-
PARK7-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAX9p.Y286C
Missense
SNP
0.515
2--
PAXBP1p.A825Pfs*4
Frame_Shift_Del
DEL
0.500
2--
PBXIP1-
-
-
-
1Loss-
PCDHA5p.F462S
Missense
SNP
0.511
2--
PCDHB9p.V722A
Missense
SNP
0.482
2--
PDE4Bp.R581H
Missense
SNP
0.590
2--
PDE6B-
-
-
-
1Loss-
PDGFRBp.R641H
Missense
SNP
0.442
2--
PDPN-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PEX10-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PGCp.R30S
Missense
SNP
0.414
2--
PGD-
-
-
-
1Loss-
PHACTR2p.T240Nfs*5
Frame_Shift_Ins
INS
0.373
2--
PHF13-
-
-
-
1Loss-
PHKBp.A601V
Missense
SNP
0.278
2--
PHTF2p.L536Ffs*10
Frame_Shift_Ins
INS
0.273
2--
PIK3CAp.H1047R
Missense
SNP
0.367
2--
PIK3CD-
-
-
-
1Loss-
PILRBp.I63T
p.V64A
Missense
Missense
SNP
SNP
0.286
0.306
2--
PINK1-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4Dp.P731L
Missense
SNP
0.451
2--
PLA2G5-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLEKHM1p.S956F
Missense
SNP
1.000
2--
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLPPR4p.S523P
Missense
SNP
0.480
2--
PLXNA2p.H465Pfs*27
Frame_Shift_Ins
INS
0.351
2--
PLXNA3p.A17Pfs*12
Frame_Shift_Del
DEL
0.456
NDND-
PLXNC1-
-
-
-
1Loss-
PMVK-
-
-
-
1Loss-
PNMAL2p.E440K
Missense
SNP
0.141
NDND-
POLQp.L1430*
Nonsense
SNP
0.516
2--
PPFIA2p.N111S
Missense
SNP
0.447
2--
PPWD1p.R390W
Missense
SNP
0.382
2--
PQLC2-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF10-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF17-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF27-
-
-
-
1Loss-
PRAMEF33-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAMEF8-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM7-
-
-
-
3Gain-
PREX1p.L1659F
Missense
SNP
0.374
2--
PRKAR1Bp.Y185C
Missense
SNP
0.093
2--
PRKCZ-
-
-
-
1Loss-
PRR12p.Q800Pfs*26
Frame_Shift_Ins
INS
0.248
2--
PRXL2B-
-
-
-
1Loss-
PTPN3p.R355W
Missense
SNP
0.504
2--
PUSL1-
-
-
-
1Loss-
PYGO2-
-
-
-
1Loss-
RAB21-
-
-
-
3Gain-
RADILp.G882Wfs*32
Frame_Shift_Ins
INS
0.298
2--
RAP1GAP-
-
-
-
1Loss-
RASAL2p.D390Gfs*4
Frame_Shift_Ins
INS
0.267
2--
RBM17p.A282T
Missense
SNP
0.535
2--
RBM20p.I1090Hfs*4
Frame_Shift_Ins
INS
0.280
2--
RBM27p.Q817Tfs*63
Frame_Shift_Ins
INS
0.316
2--
RBM42p.A254V
Missense
SNP
0.369
2--
RBP7-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RECQL4p.T858A
Missense
SNP
0.476
2--
RELNp.P520L
Missense
SNP
0.604
2--
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
REXO1p.Y1173Ifs*179
Frame_Shift_Ins
INS
0.270
2--
RGS12p.Q1292Rfs*49
Frame_Shift_Del
DEL
0.478
2--
RIMBP3-
-
-
-
3Gain-
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP62-
-
-
-
NDNDRN7SKP80--RN7SKP62
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP80-
-
-
-
NDNDRN7SKP80--RN7SKP62
RNF141p.T9A
Missense
SNP
0.435
2--
RNF166-
-
-
-
3Gain-
RNF186-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
ROS1p.Y363Lfs*25
Frame_Shift_Ins
INS
0.330
2--
RP1p.P153Hfs*4
Frame_Shift_Del
DEL
0.469
2--
RPAP2-
-
-
-
1Loss-
RPE65p.R296Gfs*29
Frame_Shift_Del
DEL
0.417
2--
RPL13-
-
-
-
3Gain-
RPL22-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSPH10B2-
-
-
-
3Gain-
SACSp.K1717Nfs*8
Frame_Shift_Del
DEL
0.598
2--
SAMD11-
-
-
-
1Loss-
SATB1p.Q639dup
In_Frame_Ins
INS
0.278
2--
SCAF1p.E729G
Missense
SNP
0.400
2--
SCN10Ap.T709Yfs*3
Frame_Shift_Ins
INS
0.340
2--
SCNN1D-
-
-
-
1Loss-
SCNN1Gp.S302Qfs*27
Frame_Shift_Ins
INS
0.276
2--
SDF4-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SEC14L5p.I435F
Missense
SNP
0.547
2--
SEC31Bp.A700E
Missense
SNP
0.556
2--
SH2D5-
-
-
-
1Loss-
SHANK3p.T1606Pfs*24
Frame_Shift_Del
DEL
0.478
2--
SHC1-
-
-
-
1Loss-
SHOC2p.L333P
Missense
SNP
0.389
2--
SIK1B-
-
-
-
1Loss-
SKI-
-
-
-
1Loss-
SLC16A1p.D15Rfs*34
Frame_Shift_Ins
INS
0.326
2--
SLC16A7p.F347Lfs*53
Frame_Shift_Del
DEL
0.466
2--
SLC22A31-
-
-
-
3Gain-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A7p.Y380C
Missense
SNP
0.679
1Loss-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC5A8p.A35T
Missense
SNP
0.469
2--
SLC7A5-
-
-
-
3Gain-
SLCO3A1p.A573T
Missense
SNP
0.410
2--
SMARCA4p.E365G
Missense
SNP
0.539
2--
SMARCC2p.G1044Lfs*18
Frame_Shift_Ins
INS
0.210
2--
SMC2p.N337Ifs*9
Frame_Shift_Del
DEL
0.056
2--
SMIM1-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMPDL3Bp.R17G
Missense
SNP
0.429
2--
SNAI3-
-
-
-
3Gain-
SNED1p.R1341H
Missense
SNP
0.374
2--
SOX9p.H169R
Missense
SNP
1.000
2--
SPATA21-
-
-
-
1Loss-
SPATA2L-
-
-
-
3Gain-
SPATA33-
-
-
-
3Gain-
SPEGp.S1915Vfs*324
p.R1617H
Frame_Shift_Del
Missense
DEL
SNP
0.457
0.360
2--
SPEN-
-
-
-
1Loss-
SPG21p.L191S
Missense
SNP
0.347
2--
SPG7-
-
-
-
3Gain-
SPIRE2-
-
-
-
3Gain-
SPSB1-
-
-
-
1Loss-
SRA1-
-
-
-
3Gain-
SRARP-
-
-
-
1Loss-
SRFBP1p.N236Kfs*5
Frame_Shift_Ins
INS
0.282
2--
SRM-
-
-
-
1Loss-
SRMSp.L9R
Missense
SNP
0.421
2--
SRPX2p.Y26F
p.A124T
Missense
Missense
SNP
SNP
0.643
0.379
NDND-
SSU72-
-
-
-
1Loss-
ST8SIA6p.A252Pfs*53
Frame_Shift_Del
DEL
0.361
2--
STAB1p.G134E
Missense
SNP
0.536
2--
SYNMp.V459I
Missense
SNP
0.429
2--
SYNPO2p.K752E
Missense
SNP
0.436
2--
SYVN1p.R535Pfs*10
Frame_Shift_Ins
INS
0.299
2--
TAF1p.R122Q
Missense
SNP
0.463
NDND-
TAF4Bp.A599P
Missense
SNP
0.500
2--
TARDBP-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TCF25-
-
-
-
3Gain-
TEX41.
Splice_Site
SNP
0.455
NDND-
TGIF2LXp.L159Pfs*22
Frame_Shift_Ins
INS
0.322
NDND-
THAP2-
-
-
-
3Gain-
THAP3-
-
-
-
1Loss-
TICAM1p.P643Tfs*123
Frame_Shift_Ins
INS
0.318
2--
TMCO4-
-
-
-
1Loss-
TMEM104p.V312M
Missense
SNP
0.548
2--
TMEM126Bp.A198V
Missense
SNP
0.153
2--
TMEM19-
-
-
-
3Gain-
TMEM191B-
-
-
-
3Gain-
TMEM201-
-
-
-
1Loss-
TMEM240-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM97p.K176Nfs*188
Frame_Shift_Del
DEL
0.393
2--
TMPRSS6p.A596G
Missense
SNP
0.423
2--
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNRp.L364P
Missense
SNP
0.099
2--
TOP3Ap.R758Qfs*3
Frame_Shift_Ins
INS
0.280
2--
TOPAZ1p.P1447S
Missense
SNP
0.509
2--
TP73-
-
-
-
1Loss-
TPH2p.L81M
Missense
SNP
0.625
2--
TPRG1L-
-
-
-
1Loss-
TPST2p.A44Gfs*5
Frame_Shift_Ins
INS
0.286
2--
TRA2Ap.R83Q
Missense
SNP
1.000
2--
TRAPPC2L-
-
-
-
3Gain-
TRIM10p.T129A
Missense
SNP
0.500
2--
TRIM26p.R464C
Missense
SNP
0.468
2--
TRIM51p.M144Cfs*15
Frame_Shift_Del
DEL
0.451
2--
TRIP11p.M308Wfs*8
Frame_Shift_Del
DEL
0.127
2--
TRMT6p.K153Nfs*9
Frame_Shift_Del
DEL
0.545
2--
TRPA1p.N109Tfs*23
Frame_Shift_Del
DEL
0.554
2--
TRPM8p.E768Rfs*14
Frame_Shift_Ins
INS
0.302
2--
TRPS1p.P578S
Missense
SNP
0.483
2--
TRRAPp.M826V
Missense
SNP
0.486
2--
TSC22D4p.V382A
Missense
SNP
0.519
2--
TSHZ3p.Y197*
Nonsense
SNP
0.500
2--
TTC34-
-
-
-
1Loss-
TTKp.K857Nfs*36
Frame_Shift_Del
DEL
0.423
2--
TTLL10-
-
-
-
1Loss-
TTNp.G30595V
Missense
SNP
0.100
2--
TUBB3-
-
-
-
3Gain-
TYW1Bp.D303G
Missense
SNP
0.447
2--
U2AF1L5-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
ULK2p.S279Ifs*64
Frame_Shift_Ins
INS
0.341
2--
UNC79p.K1316Sfs*12
Frame_Shift_Del
DEL
0.459
2--
UQCRHL-
-
-
-
1Loss-
USP18-
-
-
-
3Gain-
USP2p.D575N
Missense
SNP
0.417
2--
USP48-
-
-
-
1Loss-
UTRNp.G594D
Missense
SNP
0.506
2--
UTS2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VPS13Dp.L2118P
Missense
SNP
0.252
1Loss-
VPS9D1-
-
-
-
3Gain-
VWA1-
-
-
-
1Loss-
VWA5B1-
-
-
-
1Loss-
WDFY3p.Q41R
Missense
SNP
0.556
2--
WDR17p.X866_splice
Splice_Site
SNP
0.547
2--
WDR6p.R838Afs*3
Frame_Shift_Ins
INS
0.275
2--
WDR62p.X234_splice
Splice_Site
SNP
0.493
2--
WDR64p.S136R
Missense
SNP
0.471
2--
WDR66p.L436Tfs*4
Frame_Shift_Ins
INS
0.288
2--
WFDC3p.C56R
Missense
SNP
0.500
2--
WNT7Ap.G288R
Missense
SNP
0.579
2--
WRAP73-
-
-
-
1Loss-
WWP2p.R542H
Missense
SNP
0.447
2--
YLPM1p.G255Wfs*3
Frame_Shift_Ins
INS
0.297
2--
ZBED5p.P105Tfs*7
Frame_Shift_Ins
INS
0.309
2--
ZBTB17-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZC3H18-
-
-
-
3Gain-
ZCCHC14-
-
-
-
3Gain-
ZER1p.X104_splice
Splice_Site
SNP
0.516
2--
ZFPM1-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF276-
-
-
-
3Gain-
ZNF469p.R3417Afs*58
Frame_Shift_Ins
INS
0.347
3Gain-
ZNF480p.I504M
Missense
SNP
0.490
2--
ZNF644p.R291Kfs*19
Frame_Shift_Ins
INS
0.254
2--
ZNF687p.R939Pfs*36
Frame_Shift_Ins
INS
0.301
2--
ZNF778-
-
-
-
3Gain-
ZNF880p.E135K
Missense
SNP
0.115
2--
ZNF98p.N102Ifs*6
Frame_Shift_Del
DEL
0.425
2--
ZNHIT6p.R315G
Missense
SNP
0.483
2--
ZNRF3p.P517L
Missense
SNP
0.234
2--