Across-platforms HTS and Sanger orthogonal validation uncover a 1 bp annotation error in GM07829. (A) IGV snapshots supporting the absence of the 556delA indel (Chr 7: 117,531,049 bp) annotated in Coriell for GM07829 but instead a 1 bp downstream T deletion (Chr 7: 117,531,050 bp) with the same detrimental functional effect. (B) Orthogonal validation of the HTS results through Sanger sequencing.