PDMR-119177~322-R1~PXWJH4-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ADCK5-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKRD35p.S188L
Missense
SNP
0.347
2--
ANKRD55p.D262N
Missense
SNP
0.536
2--
BOP1-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DUOX1p.V1050M
Missense
SNP
0.541
2--
EIF4EBP3-
-
-
-
1Loss-
EPPK1-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
FAM163Bp.R120H
Missense
SNP
0.534
2--
FAM83H-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPRIN2-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HHIPp.T618N
Missense
SNP
0.441
2--
HSF1-
-
-
-
3Gain-
IGHV1OR15-9p.A111T
Missense
SNP
0.435
NDND-
IMMP2L-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRIQ3-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
NEGR1-
-
-
-
3Gain-
NPY4R-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PCNX3p.R490Q
Missense
SNP
0.145
2--
PDZD2-
-
-
-
3Gain-
PITPNM1p.A990T
Missense
SNP
0.500
2--
PLEC-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PRKAG1p.V322I
Missense
SNP
0.523
2--
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RNF17p.R1167K
Missense
SNP
0.490
2--
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SHARPIN-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SNORA20-
-
-
-
NDNDSNORA20--SNORA20B
SNORA20B-
-
-
-
NDNDSNORA20--SNORA20B
SPATC1-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SS18-
-
-
-
2-SS18--SSX1
SSX1-
-
-
-
NDNDSS18--SSX1
SYCP2-
-
-
-
1Loss-
SYT15-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TNFRSF11Bp.G187R
Missense
SNP
0.494
2--
TONSL-
-
-
-
3Gain-
TTNp.T5346I
Missense
SNP
0.503
2--
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
ZNF610p.V29M
Missense
SNP
0.521
2--