Extended Data Figure 6 : UK10K-exomes, sequence variant statistics.

From: The UK10K project identifies rare variants in health and disease

Extended Data Figure 6

Number of variants (×103) that are found in one or more of the three UK10K-exomes disease data sets, as a function of allele frequency (AF) of the non-reference allele. Variants are split into allele counts (AC) AC = 1, AC = 2 and non-overlapping AF bins for AC > 2. Allele frequency is the frequency of the alternative allele. The distributions of SNVs and INDELs across frequencies and disease collections are similar, except that there is a lower proportion of INDELs with AF > 1% compared to SNVs. a, SNVs. Multiallelic sites are included (1.6%), and non-reference alleles at the same site are treated as separate variants. b, INDELs. Counts are given in c. c, Variants are classed by whether they were found in more than one disease collection or unique to a specific group. d, Comparison of UK10K patient set with European-Americans individuals from the NHLBI Exome Sequencing project (EA ESP). The left panel shows the variants identified in UK10K and the percentage shared with EA ESP. Both the total number of variants and the number within the EA ESP bait regions (intersection of bait sets) are given. The right panel shows the variants identified in EA ESP and the percentage shared with UK10K. Both the total number of variants, and the number within the UK10K baits after removing any that failed UK10K quality control, are given. There is some overlap in the ranges of AC and AF for EA ESP variants because different numbers of individuals were included.