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OncoKB Gene Panel: Listing of All Nonsynonymous Variants in Genes of Interest; Variant May or May Not Play a Role in Cancer Predisposition
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Patient ID
CN0330
Open Patient
Specimen ID
F216
Open Specimen
Sample ID
M519M2M218
Open Sample
OncoKB Version
Chr
chr14
Chr Start
105246551
Chr End
105246551
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.49G>A
HGVS Protein Change
p.E17K
Existing Variant
rs121434592,COSM33765
Variant Class
Missense_Mutation
Total Reads
165
PolyPhen
probably_damaging(1)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function