Table 1.
Position | Size (bp) | Variant | EUR | CSA | EA | ME | AMR | OCE | Gene | PBS Rank (%) | Neanderthal | Denisova |
---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1: 64992619–64992994 | 375 | DEL | 0 | 0 | 0 | 0 | 0 | 0.44 | JAK1a | 98.4 | REF | DEL |
chr2:3684113–3690212 | 6,099 | DEL | 0.02 | 0.003 | 0.05 | 0.03 | 0 | 0.26 | ALLCa | 90.3 | DEL Vindija | REF |
chr3:177287011–177292441 | 5,430 | DEL | 0 | 0 | 0 | 0 | 0 | 0.39 | LINC00501 | 97.7 | REF | DEL |
chr8:23124835–23130567 | 5,732 | DEL | 0 | 0.02 | 0 | 0 | 0 | 0.36 | TNFRSF10D | 96.8 | DEL | REF |
chr8:23134649–23164796 | 30,147 | DUP | 0 | 0 | 0 | 0 | 0 | 0.48 | TNFRSF10Da | 99 | DUP | DUP |
chr11:60460681–60461880 | 1,199 | DEL | 0 | 0 | 0.02 | 0 | 0.17 | 0 | MS4A1a | – | DEL | REF |
chr12:101882163–101883377 | 1,214 | DEL | 0.02 | 0.08 | 0.32 | 0.01 | 0.01 | 0.33 | DRAM1a | – | DEL | REF |
chr12:104799951–104803150 | 3,199 | DUP | 0.003 | 0.009 | 0 | 0.01 | 0 | 0.33 | SLC41A2a | 96.8 | DUP | REF |
chr15:34920811–34925992 | 5,181 | DEL | 0 | 0 | 0 | 0 | 0 | 0.63 | AQRa | 99.8 | REF | DEL |
chr16p12.2 | complex | DUP | 0 | 0 | 0 | 0 | 0 | 0.82 | multiple | 99.99 | REF | DUP |
chr16:75059992–75060055 | 63 | DEL | 0 | 0 | 0 | 0 | 0 | 0.34 | ZNRF1a | 96.4 | DEL | DEL |
chr17:3038851–3041981 | 3,130 | DEL | 0 | 0 | 0 | 0 | 0 | 0.16 | RAP1GAP2 | 86.1 | DEL | DEL |
chr19:42529806–42531042 | 1,236 | DEL | 0 | 0 | 0 | 0 | 0 | 0.54 | CEACAM1a | 99.4 | DEL | DEL |
Neanderthal refers to both published high-coverage genomes. The deletion within ALLC is only shared with the Vindija Neanderthal. The TNFRSF10D duplication common in Oceania is also present at low frequency (5%) in Africa. Africans do not have both deletion and duplication variants, which are in linkage disequilibrium in Oceanians (r2 = 0.48). The duplications at chr16p12.2 at high frequency in Oceania (82%) are part of a complex structural variant (Figures S6 and S7). Population branch statistic (PBS) rank is presented for stratified variants common only in Oceania. REF, Reference; DEL, Deletion; DUP, Duplication; EUR, Europe; EA, East Asia; ME, Middle East; AMR, America; CSA, Central South Asia; OCE, Oceania.
A variant that lies within or intersects a gene; otherwise, the nearest gene is presented.