Fig. 2

Somatic mutation frequencies in 40 patients having WES data, grouped by cancer type: breast, colorectal, medullary thyroid carcinoma (MTC), and other. Each dot represents a tumor-normal sample pair from a patient; patients with multiple tumors are shown as multiple points, one per tumor. The bottom panel shows the distribution of six possible base pair substitutions in each tumor (see “Methods” for mutation nomenclature), ordered to correspond with frequency data points. Only non-synonymous SNVs and SNVs altering the canonical splice sites are counted and only if this functional impact is in a canonical protein isoform of the gene. Frequencies were obtained by dividing these mutation counts by the genomic area in coding exons in WES-targeted regions. Patient P0003 was omitted because the purity of WES-sequenced tumor was <5 % based on the allelic fraction distribution of somatic mutations (Additional file 2: Supplementary Results)