PDMR-381249~077-R~GFN-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABL1p.P937L
Missense
SNP
0.565
2-ND
AC007326.4-
-
-
-
1LossND
AC093668.1-
-
-
-
0DelND
AC093668.2-
-
-
-
0DelND
AC093668.3-
-
-
-
0DelND
AC105052.1-
-
-
-
0DelND
AC105052.3-
-
-
-
0DelND
ACVR1p.R375H
Missense
SNP
0.475
2-ND
ADAM29p.R723H
Missense
SNP
0.466
2-ND
ADD1p.V585I
Missense
SNP
0.480
2-ND
AMY2A-
-
-
-
3GainND
AMY2B-
-
-
-
3GainND
ARSFp.A112P
Missense
SNP
0.496
NDNDND
ATRIPp.C487Y
Missense
SNP
0.467
2-ND
AUP1p.R227C
Missense
SNP
0.539
2-ND
B3GNT6p.G221D
Missense
SNP
0.518
2-ND
B4GALNT4p.V625M
Missense
SNP
0.424
2-ND
BCL9p.R371C
Missense
SNP
0.477
2-ND
BICC1p.K156*
Nonsense
SNP
0.427
2-ND
BRINP3p.R159*
Nonsense
SNP
0.526
2-ND
BSNDp.D3N
Missense
SNP
0.500
2-ND
BTNL3-
-
-
-
1LossND
C12orf42p.P244L
Missense
SNP
0.610
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C6orf47p.P214L
Missense
SNP
0.538
2-ND
CASS4p.S232N
Missense
SNP
0.418
2-ND
CCDC39p.R214C
Missense
SNP
0.583
2-ND
CCDC53p.T37I
Missense
SNP
0.558
NDNDND
CCDC77p.X348_splice
Splice_Site
SNP
0.536
2-ND
CD93p.V32M
Missense
SNP
0.511
2-ND
CDH10-
-
-
-
3GainND
CDH12-
-
-
-
3GainND
CDH18-
-
-
-
3GainND
CDH6-
-
-
-
3GainND
CDH9-
-
-
-
3GainND
CDHR2p.P1221H
Missense
SNP
0.416
2-ND
CEL-
-
-
-
3GainND
CHADLp.R708S
Missense
SNP
0.439
2-ND
CHL1p.G874E
Missense
SNP
0.524
2-ND
CIZ1p.R740*
Nonsense
SNP
0.533
2-ND
CLEC14Ap.R161*
Nonsense
SNP
0.480
2-ND
CNTNAP2-
-
-
-
3GainND
COL11A1-
-
-
-
3GainND
COL6A3p.M1610T
Missense
SNP
0.439
2-ND
DDX54p.I393V
Missense
SNP
0.506
2-ND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DGCR6-
-
-
-
1LossND
DNAJC18p.A3V
Missense
SNP
0.450
2-ND
DROSHA-
-
-
-
3GainND
DSCAML1p.T1105M
p.A917T
Missense
Missense
SNP
SNP
0.465
0.481
2-ND
ELFN2p.R739H
Missense
SNP
0.537
2-ND
ERC2p.A835T
Missense
SNP
0.457
2-ND
FAM110Dp.P79L
Missense
SNP
0.502
2-ND
FAM185A-
-
-
-
0DelND
FAT4p.I3286M
Missense
SNP
0.502
2-ND
FBXL13-
-
-
-
0DelND
FLGp.G2251*
Nonsense
SNP
0.495
2-ND
FLRT2-
-
-
-
3GainND
FP565260.1-
-
-
-
1LossND
FP565260.2-
-
-
-
1LossND
FP565260.3-
-
-
-
1LossND
FP565260.4-
-
-
-
1LossND
GATD3B-
-
-
-
1LossND
GFI1B-
-
-
-
3GainND
GLCCI1-
-
-
-
3GainND
GLRA4p.R106H
Missense
SNP
0.394
NDNDND
GTF3C1p.R1245C
Missense
SNP
0.484
2-ND
GTF3C5-
-
-
-
3GainND
GUF1p.R631Q
Missense
SNP
0.500
2-ND
HNRNPABp.S296L
Missense
SNP
0.483
2-ND
HRNRp.H893Q
Missense
SNP
0.413
2-ND
HYOU1p.R98S
Missense
SNP
0.449
2-ND
ICA1-
-
-
-
3GainND
IFT140p.R989C
p.E790K
Missense
Missense
SNP
SNP
0.115
0.431
2-ND
IREB2p.R51*
Nonsense
SNP
0.541
2-ND
KANK4p.R219Q
Missense
SNP
0.457
2-ND
KCNA7p.A262T
Missense
SNP
0.520
2-ND
KCTD18p.P383L
Missense
SNP
0.461
2-ND
KIAA1024p.P754L
Missense
SNP
0.555
2-ND
KIF13Bp.R306S
Missense
SNP
0.498
2-ND
KRASp.G13D
Missense
SNP
0.423
2-ND
KRT10p.R370H
Missense
SNP
0.415
2-ND
LRP12p.R746*
Nonsense
SNP
0.503
2-ND
LRRTM1p.A395V
Missense
SNP
0.504
2-ND
LTN1p.A211T
Missense
SNP
0.441
2-ND
MAGEL2p.R899C
Missense
SNP
0.563
2-ND
MARCH7p.T36S
Missense
SNP
0.400
2-ND
MAXp.H28R
Missense
SNP
0.450
2-ND
MED12p.R1627C
Missense
SNP
0.441
NDNDND
MIS18BP1p.R237Q
Missense
SNP
0.465
2-ND
MISPp.A196V
Missense
SNP
0.465
2-ND
MRPL11p.R154C
Missense
SNP
0.448
2-ND
MUC17p.R2342C
Missense
SNP
0.484
2-ND
N4BP3p.A174T
Missense
SNP
0.122
2-ND
NDUFA4-
-
-
-
3GainND
NPHP3p.N123K
Missense
SNP
0.472
2-ND
NTNG1-
-
-
-
3GainND
NUP205p.R1990*
Nonsense
SNP
0.423
2-ND
NXPH1-
-
-
-
3GainND
OBSCNp.A470T
Missense
SNP
0.389
2-ND
OR4K5p.S6Y
Missense
SNP
0.457
2-ND
PABPC4L-
-
-
-
3GainND
PAGE1p.R11H
Missense
SNP
0.483
NDNDND
PCDH10-
-
-
-
3GainND
PCDH7-
-
-
-
3GainND
PCIF1p.E200K
Missense
SNP
0.507
2-ND
PDE6Bp.A471T
Missense
SNP
0.524
2-ND
PHF14-
-
-
-
3GainND
PIK3R1p.R358*
p.X582_splice
Nonsense
Splice_Site
SNP
SNP
0.465
0.511
2-ND
PLOD1p.H225R
Missense
SNP
0.456
2-ND
POLR2J2-
-
-
-
0DelND
POLR2J3-
-
-
-
0DelND
PPFIBP2p.R110C
Missense
SNP
0.485
2-ND
PPM1Fp.R167H
Missense
SNP
0.567
2-ND
PPP2CAp.R206H
Missense
SNP
0.466
2-ND
PRAG1-
-
-
-
1LossND
PRDM9-
-
-
-
3GainND
PRMT6-
-
-
-
3GainND
PRODH-
-
-
-
1LossND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PSG1-
-
-
-
1LossND
PSG11-
-
-
-
1LossND
PSG2-
-
-
-
1LossND
PSG4-
-
-
-
1LossND
PSG5-
-
-
-
1LossND
PSG6-
-
-
-
1LossND
PSG7-
-
-
-
1LossND
PSG8-
-
-
-
1LossND
PTPRDp.P1257L
Missense
SNP
0.502
2-ND
PTPRHp.R946W
Missense
SNP
0.144
2-ND
PTPRSp.A918V
Missense
SNP
0.568
2-ND
PTRFp.E188K
Missense
SNP
0.484
NDNDND
RAB11FIP1p.A413S
Missense
SNP
0.533
2-ND
RASA4-
-
-
-
0DelND
RASA4B-
-
-
-
0DelND
RNF214p.R482H
Missense
SNP
0.503
2-ND
RNPC3-
-
-
-
3GainND
RPA3-
-
-
-
3GainND
RSAD1p.R396Q
Missense
SNP
0.448
2-ND
SERPINF2p.G68*
Nonsense
SNP
0.538
2-ND
SETD2p.R540Q
Missense
SNP
0.483
2-ND
SH2D3Cp.A443S
Missense
SNP
0.600
2-ND
SKIp.A540V
Missense
SNP
0.545
2-ND
SLC22A8p.R50C
Missense
SNP
0.500
2-ND
SLC38A5p.R339H
Missense
SNP
0.418
NDNDND
SLCO1A2p.E297K
Missense
SNP
0.552
2-ND
SOX3p.R22W
Missense
SNP
0.484
NDNDND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPATA31D3-
-
-
-
1LossND
SPATA31D4-
-
-
-
1LossND
SYBUp.D239N
Missense
SNP
0.232
2-ND
TAF1p.G1292E
Missense
SNP
0.457
NDNDND
TCEB3Bp.R235C
Missense
SNP
0.505
NDNDND
TEX2p.V785M
Missense
SNP
0.552
2-ND
THSD4p.L898M
Missense
SNP
0.453
2-ND
TMEM132Dp.R853W
Missense
SNP
0.465
2-ND
TMEM178Ap.A141T
Missense
SNP
0.479
2-ND
TOR4Ap.A208V
Missense
SNP
0.582
2-ND
TRIM52p.C227*
Nonsense
SNP
0.518
2-ND
TUBAL3p.V216I
Missense
SNP
0.522
2-ND
UBASH3Bp.E436K
Missense
SNP
0.459
2-ND
UMAD1-
-
-
-
3GainND
UNC13Bp.R1085C
Missense
SNP
0.421
2-ND
UNC5CLp.R244H
Missense
SNP
0.594
2-ND
UPK3BL1-
-
-
-
0DelND
UROC1p.G72R
Missense
SNP
0.459
2-ND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
USPL1p.S248L
Missense
SNP
0.510
2-ND
VPS13Cp.N23S
Missense
SNP
0.481
2-ND
ZBTB7Bp.R397L
Missense
SNP
0.500
2-ND
ZC3H7Ap.L389V
Missense
SNP
0.512
2-ND
ZDHHC11p.C81R
Missense
SNP
0.372
2-ND
ZFP36L2p.C299Y
Missense
SNP
0.509
2-ND
ZKSCAN7-
-
-
-
1LossND
ZNF169p.R549C
Missense
SNP
0.560
2-ND
ZNF197-
-
-
-
1LossND
ZNF35-
-
-
-
1LossND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF660-
-
-
-
1LossND
ZNF83p.K290R
Missense
SNP
0.241
2-ND
ZNF852-
-
-
-
1LossND