PDMR-283339~068-R~GFCUG5-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AATK-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACTG1-
-
-
-
1Loss-
ADAMTS2p.P105R
Missense
SNP
0.457
2--
ADGRB1-
-
-
-
1Loss-
AL117348.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ARC-
-
-
-
1Loss-
ATP13A4p.N926I
Missense
SNP
0.489
2--
ATP4Bp.C21Y
Missense
SNP
0.414
2--
BAHCC1-
-
-
-
1Loss-
BAIAP2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
3Gain-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CARD10p.R430P
Missense
SNP
0.578
2--
CCDC168-
-
-
-
3Gain-
CCNG1-
-
-
-
3Gain-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CEP131-
-
-
-
1Loss-
CHMP6-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
COL3A1-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
CSF2-
-
-
-
1Loss-
CTNNA1p.A363G
Missense
SNP
0.464
2--
DACH1-
-
-
-
3Gain-
DCAF8p.D476G
Missense
SNP
0.548
2--
DCDC2Cp.A40T
Missense
SNP
0.491
2--
DIRC1-
-
-
-
3Gain-
DLGAP2p.P205L
Missense
SNP
0.568
2--
DNAJC27-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DUOX2p.R1424H
Missense
SNP
0.567
2--
EFR3B-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EPHX1-
-
-
-
1Loss-
FAM184Ap.A832T
Missense
SNP
0.573
2--
FAM47Ap.S461F
Missense
SNP
0.493
NDND-
FNDC1p.A1419T
Missense
SNP
0.556
2--
GABRA1-
-
-
-
3Gain-
GABRA6-
-
-
-
3Gain-
GABRG2-
-
-
-
3Gain-
GALNT14-
-
-
-
1Loss-
GLT1D1p.H12L
Missense
SNP
0.519
2--
GLT8D1-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GRHL2p.G588D
Missense
SNP
0.400
2--
GRID2IPp.F719S
Missense
SNP
0.340
2--
GULP1-
-
-
-
3Gain-
HAPLN4p.R203C
Missense
SNP
0.468
2--
HIST1H2BI-
-
-
-
2-RNA5-8SN2--HIST1H2BI
HMMR-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
IGFN1p.N1677D
Missense
SNP
0.245
2--
IL3-
-
-
-
1Loss-
ITGA4-
-
-
-
3Gain-
JAK3p.A518V
Missense
SNP
0.362
2--
JRK-
-
-
-
1Loss-
KLHL1-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
LARP4p.L285I
Missense
SNP
0.603
2--
LEFTY1-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
MAT2B-
-
-
-
3Gain-
MED22p.A66T
Missense
SNP
0.549
2--
MEMO1-
-
-
-
1Loss-
MROH5-
-
-
-
1Loss-
MYT1Lp.S1019N
Missense
SNP
0.618
2--
MZT1-
-
-
-
3Gain-
NAT14-
-
-
-
1Loss-
NDUFAF8-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NOS2p.S1119N
Missense
SNP
0.450
2--
NPTX2p.R103H
Missense
SNP
0.540
2--
NUDCD2-
-
-
-
3Gain-
OR4K13p.E2Q
Missense
SNP
0.500
2--
P4HA2-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHB12p.R530H
Missense
SNP
0.571
2--
PDLIM4-
-
-
-
1Loss-
PFAS-
-
-
-
3Gain-
PHLPP2p.A809T
Missense
SNP
0.578
2--
PIK3CAp.H1047R
Missense
SNP
0.988
2--
PLCD3p.A23S
Missense
SNP
0.559
2--
PNPLA6p.S1346N
Missense
SNP
0.451
2--
POMC-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRR21p.R95L
Missense
SNP
0.966
NDND-
PVALEF-
-
-
-
1Loss-
PYCR2-
-
-
-
1Loss-
RAB26p.P38L
Missense
SNP
0.510
2--
RANGRF-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--HIST1H2BI
RSPH6Ap.F362S
Missense
SNP
0.392
2--
RYR2p.N4787I
Missense
SNP
0.612
2--
SCAF11p.A1390P
Missense
SNP
0.425
2--
SCRT1p.A33T
Missense
SNP
0.452
2--
SCX-
-
-
-
1Loss-
SEPT5p.P221S
Missense
SNP
0.566
2--
SF3A3p.K29E
Missense
SNP
0.405
2--
SLC25A3p.A176T
Missense
SNP
0.541
2--
SLC38A10-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SPATA31D3-
-
-
-
0Del-
SPATA31D4-
-
-
-
0Del-
SPCS1-
-
-
-
3Gain-
SRD5A2-
-
-
-
1Loss-
SSC5D-
-
-
-
1Loss-
STK11IPp.V55I
Missense
SNP
0.483
2--
SYT7p.Q225*
Nonsense
SNP
0.545
2--
TCEAL1p.T18I
Missense
SNP
0.378
NDND-
TEPSIN-
-
-
-
1Loss-
TMEM105-
-
-
-
1Loss-
TMEM63A-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
UBE2E3-
-
-
-
3Gain-
VPS13Dp.E224D
Missense
SNP
0.559
2--
VPS37Bp.E122G
Missense
SNP
0.450
2--
XDH-
-
-
-
1Loss-
ZFP28p.G230D
Missense
SNP
0.423
2--
ZNF100-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF227p.R540*
Nonsense
SNP
0.495
2--
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726p.V47I
Missense
SNP
0.470
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-