Targeted sequencing of NT5C2 did not identify any missense variants associated with rs72846714 or <sub>wm</sub>Ery-TGN/<sub>wm</sub>DNA-TG. rs72846714 was not associated with relapse risk, but in a separate cohort of 180 children with relapsed ALL, rs72846714-A genotype was associated with increased occurrence of relapse-specific NT5C2 gain-of-function mutations that reduce cytosol TGN levels (P = 0.03).