Figure 2.
Verifying the association of common putative ASXL1 variants with age can help distinguish true variants from recurrent artifacts. (A) Association of all ASXL1 variants present ≥20 times in the UKB exome data set and ≥15 times in the All of Us whole genome data set. Variants not associated with age- or a CHIP-associated TERT promoter variant (rs7705526) are colored in red. Variants associated with rs7705526 only are colored in blue. (B-C) Association of ASXL1 G646Wfs∗12 and G645Vfs∗58 with age across VAF strata identifies specific large VAF subsets of G646Wfs∗12 as somatic mutations, whereas G645Vfs∗58 appears to be an artifact of exome sequencing that is not present in All of Us. (D) There is a significant association of ASXL1 variants passing filtering with myeloid cancer, death, and smoking, but a minimal association with variants that were removed, supporting that these removed variants are artifacts.

Verifying the association of common putative ASXL1 variants with age can help distinguish true variants from recurrent artifacts. (A) Association of all ASXL1 variants present ≥20 times in the UKB exome data set and ≥15 times in the All of Us whole genome data set. Variants not associated with age- or a CHIP-associated TERT promoter variant (rs7705526) are colored in red. Variants associated with rs7705526 only are colored in blue. (B-C) Association of ASXL1 G646Wfs∗12 and G645Vfs∗58 with age across VAF strata identifies specific large VAF subsets of G646Wfs∗12 as somatic mutations, whereas G645Vfs∗58 appears to be an artifact of exome sequencing that is not present in All of Us. (D) There is a significant association of ASXL1 variants passing filtering with myeloid cancer, death, and smoking, but a minimal association with variants that were removed, supporting that these removed variants are artifacts.

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