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. 2016 Sep;2(5):a001057. doi: 10.1101/mcs.a001057

Table 1.

Somatic mutations identified by tumor whole-exome sequencing

Gene Genomic coordinates (hg19) HGVS cDNA HGVS protein Variant type COSMIC ID Variant allele fraction
FGFR1 Chr 8: 38274849 NM_023110: c.1638C>A p.N546K Missense COSM19176 0.29
PIK3CA Chr 3: 178952085 NM_006218: c.3140A>G p.H1047R Missense COSM775 0.33
PPP1R1A Chr 12: 54975791 NM_006741: c.372_373 delinsCA p.E124_S125 delinsDT Dinucleotide substitution N/A 0.38
RNF216 Chr 7: 5662795 NM_207116: c.2297G>A p.R766H Missense N/A 0.21

HGVS, Human Genome Variation Society; COSMIC, Catalogue of Somatic Mutations in Cancer; N/A, not applicable.