Fig. 1: Analysis of VNTR6-1 and VNTR6-2 within TERT intron 6 in relation to the multi-cancer GWAS signals rs10069690 and rs2242652.

a The chr 5p15.33 genomic region with GWAS signals rs10069690 and rs2242652 within TERT intron 4 and VNTRs within intron 6. b, c Distribution of repeat copies in 226 controls of diverse ancestries (n = 452 long-read WGS assemblies, with individual sample sizes for each group indicated in the figure) for (b) VNTR6-1 (38-bp repeat unit) and (c) VNTR6-2 (36-bp repeat unit). The dots represent repeat copies for each chromosome assembly. The box plots define the minima and maxima (ends of the whiskers), the center (median, shown as a horizontal black line), the bounds of the box (first and third quartiles, representing the interquartile range), and the means (black dots, with values displayed above the corresponding plots). Half-violin plots show the density distribution of the data. Five VNTR6-1 alleles—24, 25.5, 27, and 40.5 repeats —were observed above the 5% frequency threshold and accounted for 90.04% of all alleles in the set; VNTR6-2 alleles were scattered between 8 and 155 repeat copies, all under the 5% threshold. P-values were calculated for unpaired two-sided Wilcoxon–Mann–Whitney tests comparing the number of repeat copies between the genotype groups. The source data are provided in the Source Data file.