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Table 1 List of single nucleotide variants with specific consequence on OncoKB in the selected tumors

From: Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows

OncoKB alteration Gene Tumor site
Exon 14 splice mutation MET Non-Small Cell Lung Cancer (NSCLC)
Exon 17 mutations KIT Melanoma
Exon 19 deletion EGFR Non-Small Cell Lung Cancer (NSCLC)
Exon 19 insertion EGFR Non-Small Cell Lung Cancer (NSCLC)
Exon 20 insertion EGFR Non-Small Cell Lung Cancer (NSCLC)
Oncogenic Mutations KRAS Colorectal cancer, All solid tumors
Oncogenic Mutations NRAS Colorectal cancer, Melanoma
Oncogenic Mutations ALK NSCLC
Oncogenic Mutations BRCA1 Breast Cancer (BC)
Oncogenic Mutations BRCA2 BC
Oncogenic Mutations ERBB2 BC, NSCLC
Oncogenic Mutations FGFR2 All solid tumors
Oncogenic Mutations FGFR3 All solid tumors
Oncogenic Mutations KIT Melanoma
Oncogenic Mutations PIK3CA BC
Oncogenic Mutations TSC1 CNS
Oncogenic Mutations TSC2 CNS
Oncogenic Mutations ARAF NSCLC
Oncogenic Mutations ESR1 BC
Oncogenic Mutations FGFR1 All solid tumors
Oncogenic Mutations MAP2K1 Melanoma, NSCLC
Oncogenic Mutations MTOR All solid tumors
Oncogenic Mutations ATM All solid tumors
Oncogenic Mutations CDKN2A All solid tumors
Oncogenic Mutations NF1 All solid tumors
Oncogenic Mutations PTEN All solid tumors
Oncogenic Mutations SMARCB1 All solid tumors
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BMC Medical Genomics

ISSN: 1755-8794

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