| regionname | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0/0 | c0002 | 153 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMIM46 | chr19 | 14107324 | 14117476 |
|
0/0 | c0003 | 98 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMIM46 | chr19 | 14107324 | 14117476 |
|
1/1 | c0001 | 87 | 351 | 90 | 78 | 125 | 12 | 44 | copy fasta | SMIM47 | chr19 | 50780728 | 50791160 |
|
0/0 | c0002 | 87 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMIM47 | chr19 | 50780728 | 50791160 |
|
1/1 | c0001 | 234 | 407 | 94 | 74 | 173 | 14 | 50 | copy fasta | SMIM5 | chr17 | 75628434 | 75646404 |
|
0/0 | c0002 | 234 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | SMIM5 | chr17 | 75628434 | 75646404 |
|
0/0 | c0003 | 234 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | SMIM5 | chr17 | 75628434 | 75646404 |
|
0/0 | c0004 | 234 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMIM5 | chr17 | 75628434 | 75646404 |
|
1/1 | c0001 | 189 | 410 | 96 | 70 | 180 | 14 | 48 | copy fasta | SMIM6 | chr17 | 75641251 | 75652974 |
|
0/0 | c0002 | 189 | 6 | 0 | 0 | 6 | 0 | 0 | copy fasta | SMIM6 | chr17 | 75641251 | 75652974 |
|
1/1 | c0001 | 228 | 359 | 94 | 72 | 139 | 14 | 38 | copy fasta | SMIM7 | chr19 | 16641148 | 16665144 |
|
0/0 | c0002 | 228 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMIM7 | chr19 | 16641148 | 16665144 |
|
1/0 | c0001 | 294 | 355 | 68 | 61 | 168 | 15 | 42 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
0/1 | c0002 | 294 | 49 | 9 | 7 | 27 | 1 | 4 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
0/0 | c0003 | 294 | 12 | 12 | 0 | 0 | 0 | 0 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
0/0 | c0004 | 294 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
0/0 | c0005 | 294 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
0/0 | c0006 | 294 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMIM8 | chr6 | 87317588 | 87347329 |
|
1/1 | c0001 | 300 | 269 | 45 | 56 | 125 | 11 | 30 | copy fasta | SMIM9 | chrX | 154818348 | 154839662 |
|
0/0 | c0002 | 300 | 31 | 29 | 2 | 0 | 0 | 0 | copy fasta | SMIM9 | chrX | 154818348 | 154839662 |
|
1/1 | c0001 | 198 | 410 | 85 | 82 | 175 | 17 | 49 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0002 | 195 | 5 | 5 | 0 | 0 | 0 | 0 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0003 | 198 | 3 | 3 | 0 | 0 | 0 | 0 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0004 | 198 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0005 | 168 | 1 | 0 | 0 | 0 | 0 | 1 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0006 | 198 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0007 | 198 | 1 | 0 | 0 | 0 | 1 | 0 | copy fasta | SMKR1 | chr7 | 129497531 | 129517918 |
|
0/0 | c0001 | 324 | 234 | 45 | 26 | 134 | 4 | 25 | copy fasta | SMLR1 | chr6 | 130822406 | 130842135 |
|
1/1 | c0002 | 324 | 198 | 45 | 56 | 64 | 12 | 19 | copy fasta | SMLR1 | chr6 | 130822406 | 130842135 |
|
0/0 | c0003 | 324 | 4 | 0 | 0 | 0 | 0 | 4 | copy fasta | SMLR1 | chr6 | 130822406 | 130842135 |
|
0/0 | c0004 | 324 | 3 | 3 | 0 | 0 | 0 | 0 | copy fasta | SMLR1 | chr6 | 130822406 | 130842135 |
|
0/0 | c0005 | 324 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMLR1 | chr6 | 130822406 | 130842135 |
|
0/0 | c0001 | 885 | 31 | 29 | 1 | 1 | 0 | 0 | copy fasta | SMN1 | chr5 | 70920087 | 70958015 |
|
0/0 | c0002 | 885 | 4 | 0 | 3 | 1 | 0 | 0 | copy fasta | SMN1 | chr5 | 70920087 | 70958015 |
|
0/0 | c0003 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMN1 | chr5 | 70920087 | 70958015 |
|
0/0 | c0001 | 885 | 67 | 10 | 8 | 33 | 2 | 14 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0002 | 885 | 15 | 1 | 3 | 5 | 0 | 6 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0003 | 885 | 14 | 4 | 3 | 4 | 1 | 2 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0004 | 885 | 4 | 0 | 2 | 0 | 0 | 2 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0005 | 834 | 3 | 0 | 3 | 0 | 0 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0006 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0007 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0008 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0009 | 885 | 1 | 0 | 1 | 0 | 0 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
0/0 | c0010 | 885 | 1 | 0 | 0 | 0 | 1 | 0 | copy fasta | SMN2 | chr5 | 70044669 | 70082595 |
|
1/1 | c0001 | 717 | 379 | 88 | 60 | 178 | 14 | 37 | copy fasta | SMNDC1 | chr10 | 110285730 | 110309920 |
|
0/0 | c0002 | 717 | 9 | 0 | 5 | 0 | 0 | 4 | copy fasta | SMNDC1 | chr10 | 110285730 | 110309920 |
|
0/0 | c0003 | 717 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMNDC1 | chr10 | 110285730 | 110309920 |
|
0/0 | c0004 | 717 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | SMNDC1 | chr10 | 110285730 | 110309920 |
|
0/0 | c0005 | 717 | 1 | 0 | 0 | 0 | 0 | 1 | copy fasta | SMNDC1 | chr10 | 110285730 | 110309920 |