Distribution of mutational nucleotide classes between DX and REL paired samples. (A) Proportion of nucleotide transition and transversion mutations at DX and REL of 14 patients studied by WES. (B) Overall frequency of transversions at DX and REL (13 patients). Z test (proportion test) was used for statistical significance. (C-D) Mutational signature using a 96 substitution classification based on substitution classes and the sequence context immediately to the 5′ and 3′ ends of the mutated base. Mutation types are represented using different colors. Horizontal axes display type of mutations; vertical axes represent percentage of mutations in a specific mutation type. (E) Percentage contribution of the two mutational processes identified by EMu analysis.