Fig. 1: Characterization of known and novel IGK alleles in a cohort of 36 individuals.

A Diagram of alleles for the single IGKC gene, 5 IGKJ genes, and 47 IGKV genes. Individuals (rows) are split into two sub-rows, each indicating the allele for a gene (column). Tile colors correspond to allele sequences cataloged in the IMGT database, which have numerical designations. Allele sequences absent from IMGT are considered novel and colored lime-green. Gray tiles represent allele absence due to structural variation (deletion); white tiles represent regions unresolveable due to V(D)J recombination artifacts (see Fig. S8), which we have shown previously to occur in DNA derived from some LCLs [7, 8]. Locally phased assemblies were created for the proximal and distal regions separately; individual sub-rows do not represent locus-wide haplotypes. B Bar plot of the percent of individuals in each population that are heterozygous for 47 IGKV genes. C Stacked bar plot of the number of known and novel alleles for each of 47 IGKV genes; at least one novel allele was identified for 33 of these genes. D Bar plot of the number of individuals that have at least one allele for each of 67 novel alleles. Each novel allele is colored to indicate the presence of a) only synonymous, b) at least one non-synonymous, or c) a frame-shift substitution. E Bar plot of the average number of novel alleles identified per individual for each population. F Venn diagram illustrating the distribution of 67 novel alleles among populations. G Stacked bar plot of the number of individuals (colored by population) with at least one novel allele for each of 33 IGKV genes.