WES was performed in DIC 2 and DIC 5 (Table 1) using germline DNA extracted from bone marrow fibroblasts with normal karyotype. All variations identified by WES were confirmed as somatic on matched tumor/normal samples and tested on the remaining three DIC cases by Sanger sequencing. Illumina paired-end libraries were generated according to manufacturer’s protocol (Illumina San Diego, CA). Image processing and basecall were performed using the Illumina Real Time Analysis Software. Paired whole-exome fastq data were aligned to the human reference genome (GRCh38/hg38) with the BWA-MEM algorithm (10 (link)). Duplicates were marked using Samblaster. Quality of the aligned reads, somatic variant calling and copy number analysis were performed through CEQer2 tool, as previously described (11 (link)). Variants were annotated using dbSNP142. Variants with Minor Allele Frequency < 0.01 or carrying a ‘Clinical’ dbSNP flag were further processed; the other variants were discarded from subsequent analyses. Filtered variants were exported as vcf files and used as input for Annovar (12 (link)) analysis/annotation.