Fig. 1. Landscape of somatic alterations in acral and sun-exposed melanomas.

a, b Genomic and clinical characterization of acral and sun-exposed melanoma samples sequenced in this work. a The number of nonsynonymous SNVs and indels per melanoma exome (columns), cohort, age, frequently mutated genes in either subtype (Methods), nonsynonymous base substitution frequencies, and dominant COSMIC mutational signatures^{122, 123}. Sig. signature, 5mC 5-methylcytosine. See also Supplementary Data 2b, c for the results of mutational significance analysis with MutSigCV¹⁰². b The number of significant focal amplifications and deletions (GISTIC Q < 0.05) per melanoma exome (columns), ordered identically to panel a. Cytobands with focal amplifications or deletions with at least 10% recurrence frequency in either melanoma subtype are shown (GISTIC Q < 10^–5), ordered by the relative difference in recurrence frequency in acral versus sun-exposed melanoma. c Genes are plotted according to the fraction of acral (y-axis) or sun-exposed (x-axis) tumors where they are present with ≥4 copies. Considering the genome-wide distribution of differences in recurrence frequencies between melanoma subtypes, genes are identified as significantly recurrent in acral or sun-exposed melanomas if their |z-score | ≥ 3 (dashed lines). Significantly recurrent genes are colored according to their cytoband location (inset). For clarity, a small amount of jitter was added to distinguish overlapping genes. Source data are provided as a Source Data file.