PDMR-283339~068-R~GEXUJ5-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AC010615.4-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
1Loss-
ACTR8p.H183Y
Missense
SNP
0.435
2--
ACVRL1p.R145Q
Missense
SNP
0.556
2--
ADAMTS2p.P105R
Missense
SNP
0.472
2--
ADARp.S915P
Missense
SNP
0.516
2--
AEBP1p.A957T
Missense
SNP
0.426
2--
AL117339.5-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ANAPC7p.A6D
Missense
SNP
0.417
2--
ANKRD50p.G979*
Nonsense
SNP
0.444
2--
ANTXRLp.S129L
Missense
SNP
0.491
2--
AP5B1p.G299R
Missense
SNP
0.493
2--
APCp.R564*
Nonsense
SNP
0.394
2--
ARHGAP11B-
-
-
-
1Loss-
ARID1Bp.R1944*
Nonsense
SNP
0.494
2--
ARL17A-
-
-
-
2-ARL17A--KANSL1
ARNTLp.D531N
Missense
SNP
0.488
2--
ATP13A4p.N926I
Missense
SNP
0.552
2--
ATP4Bp.C21Y
Missense
SNP
0.517
2--
B3GNT2p.R126H
Missense
SNP
0.340
2--
BMP4p.P148H
Missense
SNP
0.500
2--
C2orf16p.T1058I
Missense
SNP
0.486
2--
C2orf57p.P326S
Missense
SNP
0.453
NDND-
CACNG8p.A320V
Missense
SNP
0.327
2--
CARD10p.R430P
Missense
SNP
0.626
2--
CARMIL3p.D636N
Missense
SNP
0.495
2--
CARNS1p.V866M
Missense
SNP
0.132
2--
CCAR2p.V259A
Missense
SNP
0.424
2--
CDH12p.E531D
Missense
SNP
0.396
2--
CEACAM1-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEP112p.R253C
Missense
SNP
0.546
2--
CHMP7p.F35L
Missense
SNP
0.470
2--
CHPFp.H332Y
Missense
SNP
0.496
2--
CHRFAM7A-
-
-
-
1Loss-
CLEC14Ap.P294S
Missense
SNP
0.538
2--
CMIPp.L148R
Missense
SNP
0.470
2--
CNMD-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNTNAP2-
-
-
-
4Gain-
CPAMD8p.A664T
Missense
SNP
0.628
2--
CPT1Bp.I460V
Missense
SNP
0.554
2--
CREB5p.T444I
Missense
SNP
0.429
2--
CSMD1p.C3562Y
Missense
SNP
0.376
2--
CTNNA1p.A363G
Missense
SNP
0.481
2--
CXCL17-
-
-
-
1Loss-
CYLC2p.H32Q
Missense
SNP
0.469
2--
CYP2D6p.T393R
Missense
SNP
0.487
2--
DACH1-
-
-
-
3Gain-
DCAF8p.D476G
Missense
SNP
0.581
2--
DCDC2Cp.A40T
Missense
SNP
0.522
2--
DCT-
-
-
-
3Gain-
DDX28p.M243V
Missense
SNP
0.492
2--
DHX58p.F662L
Missense
SNP
0.475
2--
DIXDC1p.R550H
Missense
SNP
0.520
2--
DLGAP2p.P205L
Missense
SNP
0.479
2--
DNAH6p.R2657H
Missense
SNP
0.490
2--
DOCK2p.K494E
Missense
SNP
0.451
2--
DPYSL2p.A25T
Missense
SNP
0.493
NDND-
DUOX2p.R1424H
Missense
SNP
0.500
2--
E4F1p.L499F
Missense
SNP
0.500
2--
EDAp.A390T
Missense
SNP
0.481
NDND-
EIF2AK4p.X896_splice
Splice_Site
SNP
0.498
2--
EIF2B5p.G369D
Missense
SNP
0.512
2--
EIF2S1p.Y235C
Missense
SNP
0.458
2--
ENGASEp.R313W
Missense
SNP
0.537
2--
ERI2p.P613L
Missense
SNP
0.458
2--
FAM118Bp.D309N
Missense
SNP
0.521
2--
FAM126Bp.M248T
Missense
SNP
0.468
2--
FAM172Ap.G370C
Missense
SNP
0.442
2--
FAM184Ap.A832T
Missense
SNP
0.558
2--
FAM47Ap.S461F
Missense
SNP
0.500
NDND-
FANCIp.R533Q
Missense
SNP
0.544
2--
FAT2p.S3605N
Missense
SNP
0.472
2--
FCGR1A-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLT1p.R508C
Missense
SNP
0.493
2--
FLT3p.T227M
Missense
SNP
1.000
2--
FNDC1p.A1419T
Missense
SNP
0.443
2--
GGNBP2p.S414N
Missense
SNP
0.558
2--
GIMAP1p.R123Q
Missense
SNP
0.498
2--
GLT1D1p.H12L
Missense
SNP
0.463
2--
GNALp.V311D
Missense
SNP
0.459
2--
GOLGA8R-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPR3p.V240M
Missense
SNP
0.517
2--
GPRC5Ap.V162I
Missense
SNP
0.454
2--
GRHL2p.G588D
Missense
SNP
0.473
2--
GRID2IPp.F719S
Missense
SNP
0.398
2--
GRIN2Ap.N515D
Missense
SNP
0.511
2--
GRM5p.R925W
Missense
SNP
0.483
2--
GSX1p.Q158*
Nonsense
SNP
0.426
2--
HAPLN4p.R203C
Missense
SNP
0.538
2--
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HTR1Ap.A131T
Missense
SNP
0.496
2--
IDH3Gp.A218D
Missense
SNP
0.331
NDND-
ITIH5p.Q606L
Missense
SNP
0.491
2--
JAGN1p.S106N
Missense
SNP
0.495
2--
JAK3p.A518V
Missense
SNP
0.558
2--
KANSL1-
-
-
-
2-ARL17A--KANSL1
KDM1Ap.C380R
Missense
SNP
0.438
2--
KDRp.T1258M
Missense
SNP
0.509
2--
KITp.R177H
Missense
SNP
0.480
2--
KLHL1-
-
-
-
3Gain-
KMT2Bp.E663*
p.L2431W
Nonsense
Missense
SNP
SNP
0.499
0.528
2--
KRT34p.Q299R
Missense
SNP
0.495
2--
KRTAP10-8p.R214C
Missense
SNP
0.446
2--
LAMA3p.T3099I
Missense
SNP
0.448
2--
LARP4p.L285I
Missense
SNP
0.473
2--
LPCAT1p.R104H
Missense
SNP
0.540
2--
LRRC38-
-
-
-
1Loss-
MAGEE1p.T342A
Missense
SNP
0.443
NDND-
MAGEL2p.N7I
Missense
SNP
0.564
2--
MAJINp.V72A
Missense
SNP
0.539
2--
MAN2B1p.D548N
Missense
SNP
0.426
2--
MAPK1p.R135I
Missense
SNP
0.457
2--
MBOAT2p.S48*
Nonsense
SNP
0.481
2--
MED12Lp.A872V
Missense
SNP
0.474
2--
MED22p.A66T
Missense
SNP
0.547
2--
MEX3Dp.P537L
Missense
SNP
0.386
2--
MOB1Bp.M48V
Missense
SNP
0.502
2--
MROH1p.R1339M
Missense
SNP
0.381
2--
MROH7p.V987M
Missense
SNP
0.531
2--
MUC3Ap.C128W
Missense
SNP
0.206
2--
MYT1Lp.S1019N
Missense
SNP
0.552
2--
NBPF19-
-
-
-
1Loss-
NBPF9-
-
-
-
1Loss-
NELFAp.L150P
Missense
SNP
0.482
2--
NEUROG3p.G157R
Missense
SNP
0.464
2--
NKX2-4p.G284S
Missense
SNP
0.420
2--
NMT1p.R339Q
Missense
SNP
0.477
2--
NOS2p.S1119N
Missense
SNP
0.420
2--
NPLOC4p.L114I
Missense
SNP
0.451
2--
NPTX2p.R103H
Missense
SNP
0.542
2--
NRXN1p.S966Y
Missense
SNP
0.496
2--
NSD1p.W1280*
Nonsense
SNP
0.585
2--
NUP205-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OR13C8p.N172K
Missense
SNP
0.477
2--
OR2T10-
-
-
-
1Loss-
OR2T11-
-
-
-
1Loss-
OR2T27-
-
-
-
1Loss-
OR2T34-
-
-
-
1Loss-
OR2T35-
-
-
-
1Loss-
OR4K13p.E2Q
Missense
SNP
0.511
2--
OR9Q1p.W23R
Missense
SNP
0.496
2--
OXGR1p.L260S
Missense
SNP
0.511
2--
PARP11p.G262D
Missense
SNP
0.476
2--
PCDH17-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA13p.A615V
Missense
SNP
0.503
2--
PCDHB12p.R530H
Missense
SNP
0.375
2--
PCDHGA9p.V699I
Missense
SNP
0.501
2--
PDE2Ap.R108W
Missense
SNP
0.433
2--
PHLPP2p.A809T
Missense
SNP
0.525
2--
PIK3CAp.H1047R
Missense
SNP
1.000
2--
PLA2G5p.C137Y
Missense
SNP
0.551
2--
PLCD3p.A23S
Missense
SNP
0.495
2--
PLEKHG4p.Q1179H
Missense
SNP
0.379
2--
PNPLA6p.S1346N
Missense
SNP
0.424
2--
POLHp.R111H
Missense
SNP
0.498
2--
PRAMEF1-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRDM16p.A845V
Missense
SNP
0.613
2--
PRR21p.R95L
Missense
SNP
0.979
NDND-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PTGER4p.R256C
Missense
SNP
0.488
2--
PTPN5p.H550Y
Missense
SNP
0.477
2--
PTPRHp.M394V
Missense
SNP
0.589
2--
PXDNp.R1161W
Missense
SNP
0.535
2--
RAB26p.P38L
Missense
SNP
0.492
2--
RAPGEF4p.L844F
Missense
SNP
0.471
2--
RAXp.R110Q
Missense
SNP
0.101
2--
RBM20p.E1091K
Missense
SNP
0.509
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RIMBP2p.T383M
Missense
SNP
0.490
2--
RIMS3p.T87M
Missense
SNP
0.525
2--
RNF145p.E234K
Missense
SNP
0.440
2--
RNF19Bp.W336C
Missense
SNP
0.526
2--
RREB1p.K1183E
Missense
SNP
0.478
2--
RSPH6Ap.F362S
Missense
SNP
0.474
2--
RYR2p.N4787I
Missense
SNP
0.543
2--
SART3p.L144S
Missense
SNP
0.495
2--
SAT1p.R47W
Missense
SNP
0.534
NDND-
SCAF11p.A1390P
Missense
SNP
0.511
2--
SCRT1p.A33T
Missense
SNP
0.485
2--
SEMA3Cp.A668V
Missense
SNP
0.485
2--
SEPT5p.P221S
Missense
SNP
0.468
2--
SERINC5p.M216T
Missense
SNP
0.481
2--
SERPINA7p.I387N
Missense
SNP
0.439
NDND-
SETBP1p.S1272N
Missense
SNP
0.494
2--
SF3A3p.K29E
Missense
SNP
0.575
2--
SFXN3p.L260P
Missense
SNP
0.595
2--
SIPA1L1p.Y334H
Missense
SNP
0.524
2--
SLC12A1p.A244T
Missense
SNP
0.542
2--
SLC1A7p.R537W
Missense
SNP
0.473
2--
SLC25A3p.A176T
Missense
SNP
0.312
2--
SLC2A4RGp.D12A
Missense
SNP
0.286
2--
SLC2A5p.X367_splice
Splice_Site
SNP
0.456
2--
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SMARCD2p.R118H
Missense
SNP
0.500
2--
SNX8p.R416S
Missense
SNP
0.269
2--
SOX1p.A203V
Missense
SNP
0.628
2--
SP8p.F48S
Missense
SNP
0.484
2--
SPATA31D3-
-
-
-
0Del-
SPATA31D4-
-
-
-
0Del-
ST3GAL6p.A65V
Missense
SNP
0.476
2--
STEAP3p.V242I
Missense
SNP
0.505
2--
STK11IPp.V55I
Missense
SNP
0.426
2--
SYAP1p.L299F
Missense
SNP
0.488
NDND-
SYT7p.Q225*
Nonsense
SNP
0.488
2--
TCEAL1p.T18I
Missense
SNP
0.402
NDND-
TFAP2Dp.R120W
Missense
SNP
0.463
2--
THEGp.W217*
Nonsense
SNP
0.462
2--
TIGARp.T211I
Missense
SNP
0.505
2--
TNKS2p.H96R
Missense
SNP
0.485
2--
TP53p.R290H
Missense
SNP
0.472
2--
TRHp.R61Q
Missense
SNP
0.533
2--
TRPC5p.M817T
Missense
SNP
0.521
NDND-
UBB-
-
-
-
2-UBB--UBBP5
UBBP5-
-
-
-
NDNDUBB--UBBP5
UBR4-
-
-
-
1Loss-
UNC5Bp.R631H
Missense
SNP
0.486
2--
UNC5Dp.R328Q
Missense
SNP
0.471
2--
USF3p.P1763T
Missense
SNP
0.447
2--
USP35p.L39M
Missense
SNP
0.521
2--
VPS13Dp.E224D
p.G2649*
Missense
Nonsense
SNP
SNP
0.397
0.451
2--
VPS37Bp.E122G
Missense
SNP
0.538
2--
WWOXp.D267V
Missense
SNP
0.505
2--
ZBTB40p.A154T
Missense
SNP
0.407
2--
ZC3H12Bp.R694H
Missense
SNP
0.470
NDND-
ZFP28p.G230D
Missense
SNP
0.563
2--
ZKSCAN7-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF107-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF138-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF227p.R540*
Nonsense
SNP
0.451
2--
ZNF25-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF273-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF358p.R161C
Missense
SNP
0.466
2--
ZNF37A-
-
-
-
1Loss-
ZNF384p.A82E
Missense
SNP
0.335
2--
ZNF407p.A1672T
Missense
SNP
0.508
2--
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726p.V47I
Missense
SNP
0.516
1Loss-
ZNF727-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-