Fig. 2

Differences in mutational representation between DLBCL molecular subgroups. a An enhancer proximal to PAX5 was preferentially mutated in GCB cases. A nearby peak in GRHPR near PAX5 was more commonly mutated in ABC cases. Non-coding mutation of the enhancer proximal to PAX5 has been reported in CLL but has not, to our knowledge, been described in other lymphoid cancers. The mutation pattern in DLBCL resembles that of other super-enhancers (Supplementary Figure 6B). b S1PR2 is a known target of aSHM, and the mutations mainly affect the first intron. DNMT1 is adjacent to S1PR2 and has a similar mutation pattern. Both of these peaks were enriched for mutations in GCB, indicating the potential for co-regulation of these genes using a common set of regulatory regions. c Coding and non-coding mutations that may be associated with either ABC or GCB COO are shown based on our recurrence cohort and are ordered on the strength of the association. For genes with missense mutation hot spots or (for NFKBIZ) a 3′ UTR hot spot, only mutations affecting that region were considered (indicated in parentheses beside the gene). Either hot spot, coding, or all mutations were used for this calculation, depending on the gene, as indicated in the legend. d The mutations detected in these genes are shown for each patient in our validation cohort. For genes affected by aSHM, mutations are represented using grey scale to indicate the number of mutations detected in each patient