PDMR-435261~313-R~H25M89-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AC008878.2-
-
-
-
3GainND
AC134980.3-
-
-
-
3GainND
AC135068.1-
-
-
-
3GainND
AC135068.3-
-
-
-
3GainND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
APCp.S583*
Nonsense
SNP
0.406
2-ND
ARGFX-
-
-
-
3GainND
AXIN1p.T58R
Missense
SNP
0.463
2-ND
BRINP3-
-
-
-
3GainND
C10orf71p.G1283R
Missense
SNP
0.470
2-ND
CACNA1Ep.A36V
Missense
SNP
0.382
2-ND
CADM2-
-
-
-
3GainND
CAMSAP3-
-
-
-
3GainND
CCDC115-
-
-
-
1LossND
CCDC171p.Q1026*
Nonsense
SNP
0.360
2-ND
CCDC74B-
-
-
-
1LossND
CELF6p.D215N
Missense
SNP
0.333
2-ND
CFAP61p.N43S
Missense
SNP
0.521
2-ND
DEFA4-
-
-
-
1LossND
DEFA5-
-
-
-
1LossND
DEFA6-
-
-
-
1LossND
DEFB1-
-
-
-
1LossND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
FAT4p.S3646I
Missense
SNP
0.436
2-ND
FBXO40-
-
-
-
3GainND
FCGR1A-
-
-
-
1LossND
FLG2-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FLT1p.R665*
Nonsense
SNP
0.103
2-ND
FLT4p.R1075Q
Missense
SNP
0.514
2-ND
GBE1-
-
-
-
3GainND
GJC3p.R144G
Missense
SNP
0.435
2-ND
GLT8D1-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GOLGB1-
-
-
-
3GainND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GRM2p.R118C
Missense
SNP
0.494
2-ND
HCLS1-
-
-
-
3GainND
HIST2H2AA3-
-
-
-
1LossND
HIST2H2AA4-
-
-
-
1LossND
HIST2H2AC-
-
-
-
1LossND
HIST2H2BE-
-
-
-
1LossND
HIST2H2BF-
-
-
-
1LossND
HIST2H3A-
-
-
-
1LossND
HIST2H3C-
-
-
-
1LossND
HIST2H3D-
-
-
-
1LossND
HIST2H4A-
-
-
-
1LossND
HIST2H4B-
-
-
-
1LossND
IL36RNp.E112K
Missense
SNP
0.534
2-ND
IMP4-
-
-
-
1LossND
IQCB1-
-
-
-
3GainND
LIMK1p.R389*
Nonsense
SNP
0.595
2-ND
LINC02203-
-
-
-
3GainND
LZTS2p.G234R
Missense
SNP
0.442
2-ND
MCOLN1-
-
-
-
3GainND
MXRA5p.R1165Q
Missense
SNP
0.980
NDNDND
MZT2B-
-
-
-
1LossND
NBPF19-
-
-
-
1LossND
NBPF9-
-
-
-
1LossND
NEK4-
-
-
-
3GainND
NTRK3p.R787C
Missense
SNP
0.581
2-ND
OR11G2-
-
-
-
3GainND
OR11H4-
-
-
-
3GainND
OR11H6-
-
-
-
3GainND
OR4K1-
-
-
-
3GainND
OR4K13-
-
-
-
3GainND
OR4K14-
-
-
-
3GainND
OR4K15-
-
-
-
3GainND
OR4K17-
-
-
-
3GainND
OR4K2-
-
-
-
3GainND
OR4K5-
-
-
-
3GainND
OR4L1-
-
-
-
3GainND
OR4M1-
-
-
-
3GainND
OR4M2-
-
-
-
3GainND
OR4N2-
-
-
-
3GainND
OR4N4-
-
-
-
3GainND
OR4N5-
-
-
-
3GainND
OR4Q2-
-
-
-
3GainND
OR4Q3-
-
-
-
3GainND
OR52E6p.L100I
Missense
SNP
0.464
2-ND
PCDH17-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PDLIM7p.E232Q
Missense
SNP
0.485
2-ND
PLA2G4A-
-
-
-
3GainND
PLXNB2p.R600*
Nonsense
SNP
0.446
2-ND
PNPLA6-
-
-
-
3GainND
POTEB-
-
-
-
3GainND
POTEB2-
-
-
-
3GainND
PRAG1-
-
-
-
1LossND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PTPN18-
-
-
-
1LossND
RAB6C-
-
-
-
1LossND
RB1p.R320*
Nonsense
SNP
0.289
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS18-
-
-
-
3GainND
RGS2-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
ROCK1-
-
-
-
3GainND
SAMD4Ap.R554W
Missense
SNP
0.498
2-ND
SEC31Ap.T406M
Missense
SNP
0.454
2-ND
SHEp.M229I
Missense
SNP
0.400
2-ND
SI-
-
-
-
3GainND
SLC36A4p.X60_splice
Splice_Site
SNP
0.435
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SMPD4-
-
-
-
1LossND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPCS1-
-
-
-
3GainND
TRIM67p.G136S
Missense
SNP
0.453
2-ND
TUBA3E-
-
-
-
1LossND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
ZNF648p.T271M
Missense
SNP
0.509
2-ND