Additional file 8: of MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy

MitoRS output file for the analysis of the CEPH family 1463. Tab1: Raw MitoRS output for the CEPH family 1463 analysis. Column headers are detailed in the Additional files 14: Table S1 legend. Data from the 17 samples are populated in consecutive columns. As explained in the Additional file 2, the rCRS position 3’107-N is deleted from the reference for proper alignment. Positions are shifted accordingly and match the rCRS numbering. Tab2: List of all variants identified in the CEPH family 1463. The parameters used to identify a variant are presented in the main text. Homoplasmic variants passing filters are highlighted in red, high frequency heteroplasmy in orange, low frequency heteroplasmy in yellow, and positions not passing filters are left in blank. For each variant, the relative coverage (in percentage), the nature of the variant (SNV or Indel), and the VarScan p-value are shown. The positions highlighted in blue were validated by Sanger sequencing. Tab 3 to Tab 7: Variant sharing within the CEPH family 1463. Same data as Tab2 but from selected individuals to highlight how variant are shared within the CEPH 1463 family. The data are similar to Tables 1 and 2 with extra details. Tab8: Reminder of the CEPH family 1463 pedigree. Figure 5 data are shown as a reminder of the CEPH family 1463 pedigree. Tab9: CEPH family 1463 haplogroup. Haplofind output obtained from the CEPH family 1463 fastA file generated by MitoRS. See the Additional file 10: Table S2 legend for details. (XLSX 29419 kb)