Extended Data Table 1 Associations of mosaic CN-LOH mutations with inherited rare coding or splice variants in cis.

From: Monogenic and polygenic inheritance become instruments for clonal selection

  1. P values from two independent statistical tests are reported: (i) a two-sided Fisher’s exact test treating individuals with a mosaic CN-LOH mutation in cis as cases (n ≥ 378,307 individuals varying slightly among tests; Supplementary Table 6); and (ii) a binomial test for biased allelic imbalance in heterozygous cases. Loci reaching genome-wide significance in the first test are reported. At these loci, additional independently associated coding or splice variants reaching Bonferroni significance are also reported.
  2. aBase pair position in hg19 coordinates.
  3. bVariant effects (using evidence reported in ClinVar21 for splice variants).
  4. cReference or alternative allele.
  5. dAlternative allele frequency (in UK Biobank individuals of European ancestry).
  6. eNumber of mosaic individuals heterozygous for the variant in which the somatic event shifted the allelic balance in favour of the reference allele (by duplication of its chromosomal segment and loss of the homologous segment).
  7. fThis approximately 70-kb deletion spans 15:102.15–102.22Mb, deleting TM2D3 and part of TARS39.
  8. gThis 454-bp deletion spans 1:43,814,729—43,815,182, deleting MPL exon 10 (Extended Data Fig. 5).
  9. hThis 9-base-pair inframe deletion in ATM has alleles CTCTAGAATT/C.
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