Fig. 1.

Identification of DOT1L mutations in human melanoma. a Somatic CNVs identified by GISTIC analysis of SNP6 data. Significantly deleted chromosome regions are shown. The deletion in red contains the DOT1L gene. b Gene-based burden test by ANNOVAR. c Percentages of melanoma samples with DOT1L mutations identified from the TCGA data portal, Queensland, and two published papers from the Broad Institute. DOT1L mutations from TCGA data portal and the published papers from the Broad Institute were identified by GATK and MuTect/VarScan using data from both melanoma tissues and paired germline DNA samples. DOT1L mutations from Queensland were analyzed according to the Illumina protocols