Fig. 2

Discovery and functional potential of rare and novel variants using Immunoseq. a Proportion of novel variants (all, Genomic Evolutionary Rate Profiling (GERP++) > =1 and GERP++ > =2) identified in DHS (red) compared to the exome (blue). b Distribution of proportion of common (red), rare (blue) and novel (green) variants according to GERP++ score and Combined annotation dependent depletion (CADD) score. c Fold enrichment of rare (blue), novel (green) or rare and novel combined (red) variants compared to common variants found at shared or cell-type specific DHSs. Linear regression slope: rare =0.119 p-value = 1.35e-05, novel = 0.093 p-value = 5.81e-05, rare and novel = 0.113 p-value = 2.41e-06. d Proportion of common (red), rare (blue) and novel (green) variants localized at a DHS that either disrupt or create a transcription-factor binding motif. P-values are calculated using Fisher’s exact test (***p < 0.001)