Fig. 1

Multi-region WES revealed variable genomic heterogeneity in two rectal tumors. a The multiple regions of patient 1 divided by physical distance. b The distribution of nonsynonymous mutations in multiple regions of patient 1. The blue and the grey in heat map presented the mutations and the absences, respectively. The pink in heat map means this gene had two separate independent mutations. The color bars next to the heat map indicate classification of mutations according to whether they are ubiquitous, shared by some tumor regions but not all, or unique to the region (private). c The multiple regions of patient 2 divided by physical distance. d The distribution of nonsynonymous mutations in multiple regions of patient 2. e The phylogenetic tree of patient 1 deduced from multi-region WES. The blue trunk, yellow branches and red leaves represented the clonal, the subclonal and the private mutations, respectively. The red, the white and the blue background of mutations meant the gain (>2 N), normal (~2 N) and loss (<2 N) of copy number, respectively. The distance of the branch was based on similar probability between samples. f The phylogenetic tree of patient 2 deduced from multi-region WES. g The mutation spectrum of multiple regions in patient 1. h The mutation spectrum of multiple regions in patient 2. i The copy number profiles of multiple regions and blood in patient 1 and patient 2. The SCNAs of genomic DNA from multiple regions (blue) and matched blood (red) detected by whole-genome sequencing was visualized by Circos. P1: patient1; P2: patient 2