Search by Gene
| Item | Value |
|---|---|
| geneid | 729877 |
| ensemblid | ENSG00000274226.6 |
| hgncid | 30708 |
| symbol | TBC1D3H |
| name | TBC1 domain family member 3H |
| refseq_nuc | NM_001123392.4 |
| refseq_prot | NP_001116864.3 |
| ensembl_nuc | ENST00000610350.4 |
| ensembl_prot | ENSP00000482630.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 36377531 |
| end | 36388435 |
| strand | - |
| ver | v1.2 |
| region | chr17:36377531-36388435 |
| region5000 | chr17:36372531-36393435 |
| regionname0 | TBC1D3H_chr17_36377531_36388435 |
| regionname5000 | TBC1D3H_chr17_36372531_36393435 |
Multiple Alignments (by translate haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
Multiple Alignments (by aa haplotype frequency)
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 45 | 0 | 13 | 24 | 2 | 6 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0002 | 0/0 | 549 | 22 | 5 | 3 | 7 | 2 | 5 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0003 | 0/0 | 549 | 18 | 2 | 1 | 14 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0004 | 0/0 | 549 | 13 | 1 | 3 | 8 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0005 | 0/0 | 549 | 10 | 2 | 2 | 3 | 1 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0006 | 0/0 | 549 | 8 | 2 | 1 | 3 | 1 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0007 | 0/0 | 549 | 5 | 5 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0008 | 0/0 | 549 | 5 | 0 | 1 | 0 | 0 | 4 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0009 | 0/0 | 549 | 4 | 0 | 2 | 1 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0010 | 0/0 | 525 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(520): Show |
chr17 | 36372531 | 36393435 |
| a0011 | 0/0 | 549 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0012 | 0/0 | 549 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDMVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0013 | 0/0 | 98 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(93): Show |
chr17 | 36372531 | 36393435 |
| a0014 | 0/0 | 472 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(467): Show |
chr17 | 36372531 | 36393435 |
| a0015 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0016 | 0/0 | 273 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(268): Show |
chr17 | 36372531 | 36393435 |
| a0017 | 0/0 | 60 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(55): Show |
chr17 | 36372531 | 36393435 |
| a0018 | 0/0 | 346 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(341): Show |
chr17 | 36372531 | 36393435 |
| a0019 | 0/0 | 472 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(467): Show |
chr17 | 36372531 | 36393435 |
| a0020 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0021 | 0/0 | 242 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(237): Show |
chr17 | 36372531 | 36393435 |
| a0022 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0023 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0024 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(184): Show |
chr17 | 36372531 | 36393435 |
| a0025 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0026 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(544): Show |
chr17 | 36372531 | 36393435 |
| a0027 | 0/0 | 19 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(14): Show |
chr17 | 36372531 | 36393435 |
| a0028 | 0/0 | 525 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(520): Show |
chr17 | 36372531 | 36393435 |
| a0029 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(184): Show |
chr17 | 36372531 | 36393435 |
| a0030 | 0/0 | 463 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(458): Show |
chr17 | 36372531 | 36393435 |
| a0031 | 0/0 | 243 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | MDVVE others(238): Show |
chr17 | 36372531 | 36393435 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1647 | 45 | 0 | 13 | 24 | 2 | 6 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0002c0003 | 0/0 | 1647 | 17 | 2 | 3 | 5 | 2 | 5 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0002c0013 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0002c0014 | 0/0 | 1647 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0002c0036 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0003c0002 | 0/0 | 1647 | 17 | 2 | 1 | 13 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0003c0026 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0004c0004 | 0/0 | 1647 | 11 | 0 | 3 | 7 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0004c0025 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0004c0041 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0005c0005 | 0/0 | 1647 | 7 | 0 | 2 | 3 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0005c0015 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0005c0023 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0005c0040 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0006c0006 | 0/0 | 1647 | 7 | 1 | 1 | 3 | 1 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0006c0043 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0007c0007 | 0/0 | 1647 | 5 | 5 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0008c0009 | 0/0 | 1647 | 3 | 0 | 1 | 0 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0008c0012 | 0/0 | 1647 | 2 | 0 | 0 | 0 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0009c0008 | 0/0 | 1647 | 3 | 0 | 1 | 1 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0009c0030 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0010c0010 | 0/0 | 1690 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1685): Show |
chr17 | 36372531 | 36393435 | ||
| a0011c0017 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0011c0018 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0012c0011 | 0/0 | 1647 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0013c0039 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0014c0034 | 0/0 | 1648 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1643): Show |
chr17 | 36372531 | 36393435 | ||
| a0015c0024 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0016c0044 | 0/0 | 1648 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1643): Show |
chr17 | 36372531 | 36393435 | ||
| a0017c0037 | 0/0 | 1652 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1647): Show |
chr17 | 36372531 | 36393435 | ||
| a0018c0042 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0019c0033 | 0/0 | 1648 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1643): Show |
chr17 | 36372531 | 36393435 | ||
| a0020c0029 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0021c0016 | 0/0 | 1646 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1641): Show |
chr17 | 36372531 | 36393435 | ||
| a0022c0032 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0023c0022 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0024c0020 | 0/0 | 1646 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1641): Show |
chr17 | 36372531 | 36393435 | ||
| a0025c0019 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0026c0027 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1642): Show |
chr17 | 36372531 | 36393435 | ||
| a0027c0038 | 0/0 | 1689 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1684): Show |
chr17 | 36372531 | 36393435 | ||
| a0028c0035 | 0/0 | 1690 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1685): Show |
chr17 | 36372531 | 36393435 | ||
| a0029c0031 | 0/0 | 1642 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1637): Show |
chr17 | 36372531 | 36393435 | ||
| a0030c0021 | 0/0 | 1646 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1641): Show |
chr17 | 36372531 | 36393435 | ||
| a0031c0028 | 0/0 | 1655 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | ATGGA others(1650): Show |
chr17 | 36372531 | 36393435 |
| acthapid | grch38/chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2076 | 45 | 0 | 13 | 24 | 2 | 6 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0002c0003t0001 | 0/0 | 2076 | 17 | 2 | 3 | 5 | 2 | 5 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0002c0013t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0002c0013t0004 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0002c0014t0001 | 0/0 | 2076 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0002c0036t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0003c0002t0002 | 0/0 | 2076 | 17 | 2 | 1 | 13 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0003c0026t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0004c0004t0001 | 0/0 | 2076 | 11 | 0 | 3 | 7 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0004c0025t0007 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0004c0041t0007 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0005c0005t0001 | 0/0 | 2076 | 7 | 0 | 2 | 3 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0005c0015t0004 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0005c0023t0004 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0005c0040t0001 | 0/0 | 2076 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0006c0006t0003 | 0/0 | 2076 | 7 | 1 | 1 | 3 | 1 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0006c0043t0003 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0007c0007t0001 | 0/0 | 2076 | 5 | 5 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0008c0009t0001 | 0/0 | 2076 | 3 | 0 | 1 | 0 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0008c0012t0004 | 0/0 | 2076 | 2 | 0 | 0 | 0 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0009c0008t0001 | 0/0 | 2076 | 2 | 0 | 0 | 1 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0009c0008t0006 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0009c0030t0001 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0010c0010t0005 | 0/0 | 2119 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2114): Show |
chr17 | 36372531 | 36393435 |
| a0011c0017t0006 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0011c0018t0006 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0012c0011t0001 | 0/0 | 2076 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0013c0039t0001 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0014c0034t0001 | 0/0 | 2077 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2072): Show |
chr17 | 36372531 | 36393435 |
| a0015c0024t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0016c0044t0010 | 0/0 | 2077 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2072): Show |
chr17 | 36372531 | 36393435 |
| a0017c0037t0009 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2076): Show |
chr17 | 36372531 | 36393435 |
| a0018c0042t0003 | 0/0 | 2076 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0019c0033t0001 | 0/0 | 2077 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2072): Show |
chr17 | 36372531 | 36393435 |
| a0020c0029t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0021c0016t0004 | 0/0 | 2075 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2070): Show |
chr17 | 36372531 | 36393435 |
| a0022c0032t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0023c0022t0008 | 0/0 | 2076 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0024c0020t0001 | 0/0 | 2075 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2070): Show |
chr17 | 36372531 | 36393435 |
| a0025c0019t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0026c0027t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2071): Show |
chr17 | 36372531 | 36393435 |
| a0027c0038t0005 | 0/0 | 2118 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2113): Show |
chr17 | 36372531 | 36393435 |
| a0028c0035t0005 | 0/0 | 2119 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2114): Show |
chr17 | 36372531 | 36393435 |
| a0029c0031t0001 | 0/0 | 2071 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2066): Show |
chr17 | 36372531 | 36393435 |
| a0030c0021t0001 | 0/0 | 2075 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2070): Show |
chr17 | 36372531 | 36393435 |
| a0031c0028t0002 | 0/0 | 2084 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | AGTGG others(2079): Show |
chr17 | 36372531 | 36393435 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 5 | 0 | 5 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0004 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0006 | 0/0 | 4 | 0 | 0 | 3 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0007 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0008 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0016 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0017 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0001 | 0/0 | 7 | 0 | 2 | 1 | 2 | 2 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0003t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0013t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0013t0004g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0014t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0014t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0002c0036t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0002 | 0/0 | 7 | 0 | 1 | 6 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0002t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0003c0026t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0012 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0004t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0025t0007g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0004c0041t0007g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0005t0001g0009 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0005t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0005t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0005t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0005t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0015t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0023t0004g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0005c0040t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0010 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0006t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0006c0043t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0007c0007t0001g0005 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0007c0007t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0008c0009t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0008c0009t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0008c0009t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0008c0012t0004g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0008c0012t0004g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0009c0008t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0009c0008t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0009c0008t0006g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0009c0030t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0010c0010t0005g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0010c0010t0005g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0010c0010t0005g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0011c0017t0006g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0011c0018t0006g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0012c0011t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0013c0039t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0014c0034t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0015c0024t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0016c0044t0010g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0017c0037t0009g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0018c0042t0003g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0019c0033t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0020c0029t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0021c0016t0004g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0022c0032t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0023c0022t0008g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0024c0020t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0025c0019t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0026c0027t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0027c0038t0005g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0028c0035t0005g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0029c0031t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0030c0021t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| a0031c0028t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| sampleid | haplotypeid | ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0002 | c0003 | t0001 | g0001 | EUR | GBR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00099 | hp2 | a0006 | c0006 | t0003 | g0010 | EUR | GBR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0096 | EUR | FIN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00280 | hp2 | a0002 | c0003 | t0001 | g0001 | EUR | FIN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | CHS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00544 | hp2 | a0003 | c0002 | t0002 | g0085 | EAS | CHS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00558 | hp1 | a0005 | c0005 | t0001 | g0009 | EAS | CHS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00558 | hp2 | a0006 | c0006 | t0003 | g0047 | EAS | CHS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00642 | hp2 | a0005 | c0005 | t0001 | g0103 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00738 | hp2 | a0004 | c0004 | t0001 | g0012 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00741 | hp1 | a0002 | c0003 | t0001 | g0001 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG00741 | hp2 | a0005 | c0005 | t0001 | g0076 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01069 | hp2 | a0002 | c0003 | t0001 | g0001 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01070 | hp2 | a0009 | c0008 | t0006 | g0023 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01106 | hp2 | a0013 | c0039 | t0001 | g0044 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01192 | hp2 | a0014 | c0034 | t0001 | g0038 | AMR | PUR | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0104 | AMR | CLM | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01346 | hp2 | a0006 | c0006 | t0003 | g0010 | AMR | CLM | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01517 | hp1 | a0005 | c0040 | t0001 | g0110 | EUR | IBS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0101 | EUR | IBS | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01884 | hp1 | a0007 | c0007 | t0001 | g0053 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01884 | hp2 | a0006 | c0006 | t0003 | g0052 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01891 | hp1 | a0007 | c0007 | t0001 | g0005 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01891 | hp2 | a0003 | c0002 | t0002 | g0081 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01952 | hp2 | a0003 | c0002 | t0002 | g0002 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01981 | hp1 | a0004 | c0004 | t0001 | g0019 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG01981 | hp2 | a0008 | c0009 | t0001 | g0037 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02027 | hp1 | a0005 | c0005 | t0001 | g0009 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02027 | hp2 | a0003 | c0002 | t0002 | g0089 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02040 | hp2 | a0004 | c0004 | t0001 | g0070 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02055 | hp1 | a0011 | c0018 | t0006 | g0079 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02055 | hp2 | a0007 | c0007 | t0001 | g0005 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02056 | hp1 | a0012 | c0011 | t0001 | g0014 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02056 | hp2 | a0003 | c0002 | t0002 | g0002 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02071 | hp1 | a0004 | c0004 | t0001 | g0072 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02071 | hp2 | a0002 | c0014 | t0001 | g0036 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02129 | hp1 | a0003 | c0002 | t0002 | g0086 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02129 | hp2 | a0006 | c0006 | t0003 | g0051 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02148 | hp1 | a0004 | c0004 | t0001 | g0091 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02148 | hp2 | a0002 | c0003 | t0001 | g0040 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02155 | hp1 | a0003 | c0026 | t0001 | g0112 | EAS | CDX | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02155 | hp2 | a0002 | c0014 | t0001 | g0032 | EAS | CDX | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02258 | hp1 | a0015 | c0024 | t0001 | g0071 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02258 | hp2 | a0002 | c0036 | t0001 | g0056 | AFR | ACB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02273 | hp2 | a0009 | c0030 | t0001 | g0025 | AMR | PEL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02523 | hp2 | a0016 | c0044 | t0010 | g0062 | EAS | KHV | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02602 | hp1 | a0005 | c0005 | t0001 | g0098 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02602 | hp2 | a0002 | c0003 | t0001 | g0035 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02723 | hp1 | a0017 | c0037 | t0009 | g0043 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02723 | hp2 | a0005 | c0023 | t0004 | g0067 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02735 | hp1 | a0002 | c0003 | t0001 | g0001 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02735 | hp2 | a0018 | c0042 | t0003 | g0045 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02738 | hp2 | a0019 | c0033 | t0001 | g0030 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02818 | hp1 | a0020 | c0029 | t0001 | g0054 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02818 | hp2 | a0002 | c0013 | t0004 | g0057 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02895 | hp1 | a0003 | c0002 | t0002 | g0087 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG02895 | hp2 | a0021 | c0016 | t0004 | g0066 | AFR | GWD | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03017 | hp1 | a0002 | c0003 | t0001 | g0031 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03017 | hp2 | a0008 | c0012 | t0004 | g0039 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03130 | hp1 | a0002 | c0003 | t0001 | g0075 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03130 | hp2 | a0006 | c0043 | t0003 | g0050 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03139 | hp1 | a0004 | c0041 | t0007 | g0061 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03139 | hp2 | a0007 | c0007 | t0001 | g0005 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0017 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03490 | hp2 | a0008 | c0012 | t0004 | g0034 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0017 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03492 | hp2 | a0009 | c0008 | t0001 | g0022 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03516 | hp1 | a0007 | c0007 | t0001 | g0005 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03516 | hp2 | a0002 | c0013 | t0001 | g0058 | AFR | ESN | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03669 | hp1 | a0004 | c0004 | t0001 | g0077 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03669 | hp2 | a0003 | c0002 | t0002 | g0113 | SAS | PJL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0008 | SAS | BEB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03831 | hp2 | a0008 | c0009 | t0001 | g0028 | SAS | BEB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04115 | hp1 | a0005 | c0005 | t0001 | g0099 | SAS | STU | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04115 | hp2 | a0023 | c0022 | t0008 | g0108 | SAS | STU | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04184 | hp1 | a0002 | c0003 | t0001 | g0001 | SAS | BEB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04184 | hp2 | a0006 | c0006 | t0003 | g0048 | SAS | BEB | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0016 | SAS | STU | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG04204 | hp2 | a0002 | c0003 | t0001 | g0033 | SAS | STU | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18939 | hp1 | a0024 | c0020 | t0001 | g0097 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18939 | hp2 | a0025 | c0019 | t0001 | g0092 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18941 | hp2 | a0003 | c0002 | t0002 | g0088 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18945 | hp2 | a0006 | c0006 | t0003 | g0049 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18948 | hp1 | a0010 | c0010 | t0005 | g0021 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18950 | hp1 | a0026 | c0027 | t0001 | g0082 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18950 | hp2 | a0003 | c0002 | t0002 | g0002 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18954 | hp1 | a0004 | c0025 | t0007 | g0069 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18954 | hp2 | a0005 | c0005 | t0001 | g0009 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18966 | hp2 | a0002 | c0003 | t0001 | g0001 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18969 | hp2 | a0003 | c0002 | t0002 | g0080 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18984 | hp1 | a0010 | c0010 | t0005 | g0046 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18990 | hp1 | a0003 | c0002 | t0002 | g0011 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18990 | hp2 | a0002 | c0003 | t0001 | g0064 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18995 | hp2 | a0003 | c0002 | t0002 | g0011 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18997 | hp2 | a0004 | c0004 | t0001 | g0013 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18998 | hp2 | a0002 | c0003 | t0001 | g0063 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19003 | hp1 | a0003 | c0002 | t0002 | g0002 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19003 | hp2 | a0002 | c0003 | t0001 | g0041 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19007 | hp1 | a0027 | c0038 | t0005 | g0020 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19009 | hp1 | a0004 | c0004 | t0001 | g0013 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19009 | hp2 | a0003 | c0002 | t0002 | g0002 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19056 | hp1 | a0010 | c0010 | t0005 | g0060 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19057 | hp1 | a0028 | c0035 | t0005 | g0027 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19062 | hp1 | a0004 | c0004 | t0001 | g0068 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19062 | hp2 | a0029 | c0031 | t0001 | g0026 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19064 | hp1 | a0012 | c0011 | t0001 | g0014 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19064 | hp2 | a0004 | c0004 | t0001 | g0012 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19065 | hp2 | a0030 | c0021 | t0001 | g0042 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19068 | hp2 | a0003 | c0002 | t0002 | g0002 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19080 | hp2 | a0002 | c0003 | t0001 | g0074 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19088 | hp2 | a0009 | c0008 | t0001 | g0024 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19089 | hp1 | a0031 | c0028 | t0002 | g0090 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA19090 | hp2 | a0003 | c0002 | t0002 | g0002 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0109 | SAS | GIH | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA20905 | hp2 | a0008 | c0009 | t0001 | g0029 | SAS | GIH | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03471 | hp1 | a0022 | c0032 | t0001 | g0059 | AFR | MSL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG03471 | hp2 | a0002 | c0003 | t0001 | g0055 | AFR | MSL | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG06807 | hp1 | a0011 | c0017 | t0006 | g0078 | AFR | USA | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| HG06807 | hp2 | a0005 | c0015 | t0004 | g0065 | AFR | USA | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| NA18955 | hp2 | a0004 | c0004 | t0001 | g0073 | EAS | JPT | TBC1D3H_chr17_36372531_36393435 | TBC1D3H | chr17 | 36372531 | 36393435 |
| view | chr:pos | ref | alt | # # of ahapid:amio-acid(protein) level
|
ahapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:36377531 | T | G | 7 | a0003a0006a0016others(4): Show | 30 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
splice_region_variant | LOW | c.*315A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | chr17 | 36377531 | |||||||
| chr17:36377902 | C | G | 1 | a0015 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.1594G>C | p.Gly532Arg | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1706/2077 | 1594/1650 | 532/549 | chr17 | 36377902 | |||
| chr17:36377916 | C | T | 1 | a0023 | 1 | HG04115.hp2 | missense_variant | MODERATE | c.1580G>A | p.Cys527Tyr | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1692/2077 | 1580/1650 | 527/549 | chr17 | 36377916 | |||
| chr17:36377941 | A | AG | 1 | a0018 | 1 | HG02735.hp2 | frameshift_variant | HIGH | c.1554dupC | p.Phe519fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1666/2077 | 1554/1650 | 518/549 | chr17 | 36377941 | |||
| chr17:36377968 | T | C | 3 | a0006a0016a0018 | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
missense_variant | MODERATE | c.1528A>G | p.Ser510Gly | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1640/2077 | 1528/1650 | 510/549 | chr17 | 36377968 | |||
| chr17:36377970 | G | GGTGCACT others(36): Show |
3 | a0010a0027a0028 | 5 | NA18948.hp1 NA18984.hp1 NA19007.hp1 others(2): Show |
frameshift_variant | HIGH | c.1525_1526insTGAGCC others(37): Show |
p.Pro509fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1637/2077 | 1525/1650 | 509/549 | chr17 | 36377970 | |||
| chr17:36377977 | C | CG | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.1518dupC | p.Ala507fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1630/2077 | 1518/1650 | 506/549 | chr17 | 36377977 | |||
| chr17:36377978 | GA | G | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.1517delT | p.Phe506fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1629/2077 | 1517/1650 | 506/549 | chr17 | 36377978 | |||
| chr17:36378002 | A | AG | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.1493dupC | p.Ala499fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1605/2077 | 1493/1650 | 498/549 | chr17 | 36378002 | |||
| chr17:36378009 | T | TC | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.1486dupG | p.Glu496fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1598/2077 | 1486/1650 | 496/549 | chr17 | 36378009 | |||
| chr17:36378045 | G | T | 1 | a0009 | 4 | HG01070.hp2 HG02273.hp2 HG03492.hp2 others(1): Show |
missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1563/2077 | 1451/1650 | 484/549 | chr17 | 36378045 | |||
| chr17:36378057 | A | G | 1 | a0009 | 4 | HG01070.hp2 HG02273.hp2 HG03492.hp2 others(1): Show |
missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1551/2077 | 1439/1650 | 480/549 | chr17 | 36378057 | |||
| chr17:36378094 | AAG | A | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.1400_1401delCT | p.Pro467fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1513/2077 | 1400/1650 | 467/549 | chr17 | 36378094 | |||
| chr17:36378126 | C | T | 1 | a0007 | 5 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(2): Show |
missense_variant | MODERATE | c.1370G>A | p.Arg457His | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1482/2077 | 1370/1650 | 457/549 | chr17 | 36378126 | |||
| chr17:36378228 | TC | T | 1 | a0018 | 1 | HG02735.hp2 | frameshift_variant | HIGH | c.1267delG | p.Glu423fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1379/2077 | 1267/1650 | 423/549 | chr17 | 36378228 | |||
| chr17:36378245 | A | AG | 2 | a0014a0031 | 2 | HG01192.hp2 NA19089.hp1 |
frameshift_variant | HIGH | c.1250dupC | p.Gly418fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1362/2077 | 1250/1650 | 417/549 | chr17 | 36378245 | |||
| chr17:36378261 | GA | G | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.1234delT | p.Ser412fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1346/2077 | 1234/1650 | 412/549 | chr17 | 36378261 | |||
| chr17:36378278 | C | CG | 2 | a0016a0019 | 2 | HG02523.hp2 HG02738.hp2 |
frameshift_variant | HIGH | c.1217dupC | p.Pro407fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1329/2077 | 1217/1650 | 406/549 | chr17 | 36378278 | |||
| chr17:36378279 | G | A | 1 | a0009 | 4 | HG01070.hp2 HG02273.hp2 HG03492.hp2 others(1): Show |
missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1329/2077 | 1217/1650 | 406/549 | chr17 | 36378279 | |||
| chr17:36378302 | C | CG | 1 | a0018 | 1 | HG02735.hp2 | frameshift_variant | HIGH | c.1193dupC | p.Arg399fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1305/2077 | 1193/1650 | 398/549 | chr17 | 36378302 | |||
| chr17:36378310 | G | A | 2 | a0013a0026 | 2 | HG01106.hp2 NA18950.hp1 |
missense_variant | MODERATE | c.1186C>T | p.Arg396Trp | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1298/2077 | 1186/1650 | 396/549 | chr17 | 36378310 | |||
| chr17:36378326 | A | AG | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.1169dupC | p.Pro391fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1281/2077 | 1169/1650 | 390/549 | chr17 | 36378326 | |||
| chr17:36379397 | TG | T | 1 | a0030 | 1 | NA19065.hp2 | frameshift_variant&splice_region_variant | HIGH | c.1079delC | p.Pro360fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1191/2077 | 1079/1650 | 360/549 | chr17 | 36379397 | |||
| chr17:36379417 | G | T | 7 | a0002a0009a0014others(4): Show | 31 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(28): Show |
missense_variant | MODERATE | c.1060C>A | p.Gln354Lys | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1172/2077 | 1060/1650 | 354/549 | chr17 | 36379417 | |||
| chr17:36379438 | T | C | 1 | a0022 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1039A>G | p.Met347Val | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1151/2077 | 1039/1650 | 347/549 | chr17 | 36379438 | |||
| chr17:36379469 | C | A | 6 | a0003a0006a0016others(3): Show | 30 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
missense_variant | MODERATE | c.1008G>T | p.Glu336Asp | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1120/2077 | 1008/1650 | 336/549 | chr17 | 36379469 | |||
| chr17:36379473 | TC | T | 1 | a0018 | 1 | HG02735.hp2 | frameshift_variant | HIGH | c.1003delG | p.Asp335fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1115/2077 | 1003/1650 | 335/549 | chr17 | 36379473 | |||
| chr17:36379479 | G | GC | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.997dupG | p.Ala333fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1109/2077 | 997/1650 | 333/549 | chr17 | 36379479 | |||
| chr17:36379503 | C | CA | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.973dupT | p.Cys325fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1085/2077 | 973/1650 | 325/549 | chr17 | 36379503 | |||
| chr17:36379520 | G | GC | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.956dupG | p.Trp321fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1068/2077 | 956/1650 | 319/549 | chr17 | 36379520 | |||
| chr17:36379534 | T | TC | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.942dupG | p.Thr315fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1054/2077 | 942/1650 | 314/549 | chr17 | 36379534 | |||
| chr17:36379930 | T | A | 1 | a0016 | 1 | HG02523.hp2 | missense_variant | MODERATE | c.917A>T | p.Lys306Met | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/14 | 1029/2077 | 917/1650 | 306/549 | chr17 | 36379930 | |||
| chr17:36380484 | C | G | 3 | a0006a0016a0018 | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
missense_variant&splice_region_variant | MODERATE | c.826G>C | p.Gly276Arg | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/14 | 938/2077 | 826/1650 | 276/549 | chr17 | 36380484 | |||
| chr17:36380504 | A | AG | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.805dupC | p.Leu269fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/14 | 917/2077 | 805/1650 | 269/549 | chr17 | 36380504 | |||
| chr17:36380937 | GC | G | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.756delG | p.His253fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 868/2077 | 756/1650 | 252/549 | chr17 | 36380937 | |||
| chr17:36380943 | TG | T | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.750delC | p.Met251fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 862/2077 | 750/1650 | 250/549 | chr17 | 36380943 | |||
| chr17:36380949 | TG | T | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.744delC | p.Lys249fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 856/2077 | 744/1650 | 248/549 | chr17 | 36380949 | |||
| chr17:36380952 | G | A | 9 | a0006a0010a0013others(6): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
missense_variant | MODERATE | c.742C>T | p.Pro248Ser | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 854/2077 | 742/1650 | 248/549 | chr17 | 36380952 | |||
| chr17:36380975 | TC | T | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.718delG | p.Glu240fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 830/2077 | 718/1650 | 240/549 | chr17 | 36380975 | |||
| chr17:36380979 | GT | G | 1 | a0021 | 1 | HG02895.hp2 | frameshift_variant | HIGH | c.714delA | p.Gln238fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 826/2077 | 714/1650 | 238/549 | chr17 | 36380979 | |||
| chr17:36380987 | T | TG | 1 | a0016 | 1 | HG02523.hp2 | frameshift_variant | HIGH | c.706dupC | p.Gln236fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 818/2077 | 706/1650 | 236/549 | chr17 | 36380987 | |||
| chr17:36381018 | T | TG | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.675dupC | p.Ser226fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 787/2077 | 675/1650 | 225/549 | chr17 | 36381018 | |||
| chr17:36381752 | G | GC | 1 | a0031 | 1 | NA19089.hp1 | frameshift_variant | HIGH | c.654dupG | p.His219fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/14 | 766/2077 | 654/1650 | 218/549 | chr17 | 36381752 | |||
| chr17:36381806 | G | A | 2 | a0010a0027 | 4 | NA18948.hp1 NA18984.hp1 NA19007.hp1 others(1): Show |
missense_variant | MODERATE | c.601C>T | p.Leu201Phe | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/14 | 713/2077 | 601/1650 | 201/549 | chr17 | 36381806 | |||
| chr17:36381814 | AG | A | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.592delC | p.Leu198fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/14 | 704/2077 | 592/1650 | 198/549 | chr17 | 36381814 | |||
| chr17:36381841 | TC | T | 1 | a0029 | 1 | NA19062.hp2 | frameshift_variant | HIGH | c.565delG | p.Asp189fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/14 | 677/2077 | 565/1650 | 189/549 | chr17 | 36381841 | |||
| chr17:36381847 | C | A | 1 | a0020 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.560G>T | p.Cys187Phe | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/14 | 672/2077 | 560/1650 | 187/549 | chr17 | 36381847 | |||
| chr17:36382418 | C | CA | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.531dupT | p.Glu178fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/14 | 643/2077 | 531/1650 | 177/549 | chr17 | 36382418 | |||
| chr17:36382451 | GC | G | 1 | a0024 | 1 | NA18939.hp1 | frameshift_variant&splice_region_variant | HIGH | c.498delG | p.Lys166fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/14 | 610/2077 | 498/1650 | 166/549 | chr17 | 36382451 | |||
| chr17:36383727 | C | T | 10 | a0002a0005a0008others(7): Show | 47 | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(44): Show |
missense_variant | MODERATE | c.471G>A | p.Met157Ile | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 583/2077 | 471/1650 | 157/549 | chr17 | 36383727 | |||
| chr17:36383734 | T | C | 3 | a0006a0016a0018 | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
missense_variant | MODERATE | c.464A>G | p.Lys155Arg | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 576/2077 | 464/1650 | 155/549 | chr17 | 36383734 | |||
| chr17:36383744 | TC | T | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.453delG | p.Thr152fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 565/2077 | 453/1650 | 151/549 | chr17 | 36383744 | |||
| chr17:36383753 | T | C | 10 | a0002a0005a0008others(7): Show | 47 | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(44): Show |
missense_variant | MODERATE | c.445A>G | p.Ile149Val | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 557/2077 | 445/1650 | 149/549 | chr17 | 36383753 | |||
| chr17:36383790 | C | CT | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.407dupA | p.Arg137fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 519/2077 | 407/1650 | 136/549 | chr17 | 36383790 | |||
| chr17:36384151 | C | CG | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.375dupC | p.Gly126fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/14 | 487/2077 | 375/1650 | 125/549 | chr17 | 36384151 | |||
| chr17:36384177 | G | A | 23 | a0002a0003a0004others(20): Show | 94 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(91): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/14 | 462/2077 | 350/1650 | 117/549 | chr17 | 36384177 | |||
| chr17:36384230 | G | C | 1 | a0013 | 1 | HG01106.hp2 | stop_gained | HIGH | c.297C>G | p.Tyr99* | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/14 | 409/2077 | 297/1650 | 99/549 | chr17 | 36384230 | |||
| chr17:36384718 | G | T | 1 | a0025 | 1 | NA18939.hp2 | missense_variant | MODERATE | c.252C>A | p.Asp84Glu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/14 | 364/2077 | 252/1650 | 84/549 | chr17 | 36384718 | |||
| chr17:36385261 | T | TC | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.190dupG | p.Glu64fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/14 | 302/2077 | 190/1650 | 64/549 | chr17 | 36385261 | |||
| chr17:36386654 | C | T | 1 | a0011 | 2 | HG02055.hp1 HG06807.hp1 |
missense_variant | MODERATE | c.80G>A | p.Arg27Gln | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/14 | 192/2077 | 80/1650 | 27/549 | chr17 | 36386654 | |||
| chr17:36386824 | C | CT | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant&splice_region_variant | HIGH | c.71dupA | p.His26fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 183/2077 | 71/1650 | 24/549 | chr17 | 36386824 | |||
| chr17:36386847 | C | G | 1 | a0013 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.49G>C | p.Asp17His | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 161/2077 | 49/1650 | 17/549 | chr17 | 36386847 | |||
| chr17:36386861 | GC | G | 1 | a0027 | 1 | NA19007.hp1 | frameshift_variant | HIGH | c.34delG | p.Ala12fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 146/2077 | 34/1650 | 12/549 | chr17 | 36386861 | |||
| chr17:36386869 | A | AC | 1 | a0017 | 1 | HG02723.hp1 | frameshift_variant | HIGH | c.26dupG | p.Ser9fs | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 138/2077 | 26/1650 | 9/549 | chr17 | 36386869 | |||
| chr17:36386889 | C | T | 1 | a0012 | 2 | HG02056.hp1 NA19064.hp1 |
missense_variant | MODERATE | c.7G>A | p.Val3Met | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 119/2077 | 7/1650 | 3/549 | chr17 | 36386889 |
| view | chr:pos | ref | alt | # # of chapid
|
chapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:36377957 | G | A | 1 | a0002c0014 | 2 | HG02071.hp2 HG02155.hp2 |
synonymous_variant | LOW | c.1539C>T | p.Ser513Ser | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1651/2077 | 1539/1650 | 513/549 | chr17 | 36377957 | |||
| chr17:36378026 | G | A | 3 | a0010c0010a0027c0038a0028c0035 | 5 | NA18948.hp1 NA18984.hp1 NA19007.hp1 others(2): Show |
synonymous_variant | LOW | c.1470C>T | p.Ala490Ala | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1582/2077 | 1470/1650 | 490/549 | chr17 | 36378026 | |||
| chr17:36378098 | G | C | 11 | a0003c0002a0004c0025a0006c0006others(8): Show | 35 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(32): Show |
synonymous_variant | LOW | c.1398C>G | p.Gly466Gly | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1510/2077 | 1398/1650 | 466/549 | chr17 | 36378098 | |||
| chr17:36378374 | C | T | 2 | a0011c0017a0011c0018 | 2 | HG02055.hp1 HG06807.hp1 |
synonymous_variant | LOW | c.1122G>A | p.Pro374Pro | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1234/2077 | 1122/1650 | 374/549 | chr17 | 36378374 | |||
| chr17:36378395 | C | T | 1 | a0011c0017 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.1101G>A | p.Ser367Ser | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 1213/2077 | 1101/1650 | 367/549 | chr17 | 36378395 | |||
| chr17:36379517 | C | T | 3 | a0006c0006a0016c0044a0018c0042 | 9 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(6): Show |
synonymous_variant | LOW | c.960G>A | p.Pro320Pro | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/14 | 1072/2077 | 960/1650 | 320/549 | chr17 | 36379517 | |||
| chr17:36379958 | A | G | 5 | a0002c0013a0002c0036a0009c0008others(2): Show | 8 | HG01070.hp2 HG02258.hp2 HG02273.hp2 others(5): Show |
synonymous_variant | LOW | c.889T>C | p.Leu297Leu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/14 | 1001/2077 | 889/1650 | 297/549 | chr17 | 36379958 | |||
| chr17:36379992 | C | T | 1 | a0008c0012 | 2 | HG03017.hp2 HG03490.hp2 |
synonymous_variant | LOW | c.855G>A | p.Leu285Leu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/14 | 967/2077 | 855/1650 | 285/549 | chr17 | 36379992 | |||
| chr17:36381016 | G | A | 1 | a0002c0036 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.678C>T | p.Ser226Ser | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/14 | 790/2077 | 678/1650 | 226/549 | chr17 | 36381016 | |||
| chr17:36382410 | A | G | 14 | a0002c0003a0002c0013a0002c0014others(11): Show | 37 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(34): Show |
synonymous_variant | LOW | c.540T>C | p.Tyr180Tyr | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/14 | 652/2077 | 540/1650 | 180/549 | chr17 | 36382410 | |||
| chr17:36383741 | A | G | 1 | a0009c0030 | 1 | HG02273.hp2 | synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/14 | 569/2077 | 457/1650 | 153/549 | chr17 | 36383741 | |||
| chr17:36386848 | C | T | 2 | a0005c0015a0021c0016 | 2 | HG02895.hp2 HG06807.hp2 |
synonymous_variant | LOW | c.48G>A | p.Glu16Glu | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 160/2077 | 48/1650 | 16/549 | chr17 | 36386848 | |||
| chr17:36386872 | G | A | 10 | a0004c0041a0005c0040a0006c0006others(7): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
synonymous_variant | LOW | c.24C>T | p.Gly8Gly | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/14 | 136/2077 | 24/1650 | 8/549 | chr17 | 36386872 |
| view | chr:pos | ref | alt | # # of thapid:transcript level
|
thapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:36377562 | A | G | 8 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(5): Show | 30 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*284T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 284 | chr17 | 36377562 | ||||||
| chr17:36377570 | G | A | 8 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(5): Show | 30 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*276C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 276 | chr17 | 36377570 | ||||||
| chr17:36377590 | G | A | 8 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(5): Show | 30 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*256C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 256 | chr17 | 36377590 | ||||||
| chr17:36377611 | G | A | 4 | a0006c0006t0003a0006c0043t0003a0016c0044t0010others(1): Show | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*235C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 235 | chr17 | 36377611 | ||||||
| chr17:36377644 | G | C | 1 | a0016c0044t0010 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*202C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 202 | chr17 | 36377644 | ||||||
| chr17:36377645 | C | T | 1 | a0016c0044t0010 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*201G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 201 | chr17 | 36377645 | ||||||
| chr17:36377647 | G | T | 7 | a0006c0006t0003a0006c0043t0003a0009c0008t0006others(4): Show | 13 | HG00099.hp2 HG00558.hp2 HG01070.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*199C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 199 | chr17 | 36377647 | ||||||
| chr17:36377665 | T | C | 5 | a0002c0013t0004a0005c0015t0004a0005c0023t0004others(2): Show | 6 | HG02723.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 181 | chr17 | 36377665 | ||||||
| chr17:36377716 | C | G | 7 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(4): Show | 29 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*130G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 130 | chr17 | 36377716 | ||||||
| chr17:36377723 | G | A | 7 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(4): Show | 29 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*123C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 123 | chr17 | 36377723 | ||||||
| chr17:36377747 | T | A | 7 | a0003c0002t0002a0006c0006t0003a0006c0043t0003others(4): Show | 29 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*99A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 99 | chr17 | 36377747 | ||||||
| chr17:36377779 | T | C | 10 | a0003c0002t0002a0004c0025t0007a0004c0041t0007others(7): Show | 32 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(29): Show |
3_prime_UTR_variant | MODIFIER | c.*67A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 67 | chr17 | 36377779 | ||||||
| chr17:36377817 | T | C | 3 | a0010c0010t0005a0027c0038t0005a0028c0035t0005 | 5 | NA18948.hp1 NA18984.hp1 NA19007.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*29A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 14/14 | 29 | chr17 | 36377817 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level
|
ghapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:36378476 | G | T | 20 | a0003c0002t0002g0002a0003c0002t0002g0011a0003c0002t0002g0080others(17): Show | 28 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.1082-62C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378476 | |||||||
| chr17:36378492 | G | A | 25 | a0001c0001t0001g0083a0001c0001t0001g0109a0003c0002t0002g0002others(22): Show | 33 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.1082-78C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378492 | |||||||
| chr17:36378496 | CT | C | 25 | a0001c0001t0001g0083a0001c0001t0001g0109a0003c0002t0002g0002others(22): Show | 33 | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.1082-83delA | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378496 | |||||||
| chr17:36378513 | T | C | 4 | a0001c0001t0001g0083a0001c0001t0001g0109a0023c0022t0008g0108others(1): Show | 4 | HG04115.hp2 NA19065.hp1 NA19065.hp2 others(1): Show |
intron_variant | MODIFIER | c.1082-99A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378513 | |||||||
| chr17:36378522 | C | T | 1 | a0002c0003t0001g0063 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1082-108G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378522 | |||||||
| chr17:36378582 | A | G | 30 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(27): Show | 36 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.1082-168T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378582 | |||||||
| chr17:36378629 | G | T | 1 | a0016c0044t0010g0062 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1082-215C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378629 | |||||||
| chr17:36378806 | G | A | 1 | a0015c0024t0001g0071 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1082-392C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378806 | |||||||
| chr17:36378867 | A | G | 2 | a0002c0003t0001g0055a0002c0013t0004g0057 | 2 | HG02818.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1082-453T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378867 | |||||||
| chr17:36378887 | C | G | 1 | a0023c0022t0008g0108 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1082-473G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378887 | |||||||
| chr17:36378898 | GGCCCGGG others(11): Show |
G | 28 | a0001c0001t0001g0083a0001c0001t0001g0094a0003c0002t0002g0002others(25): Show | 40 | HG00544.hp2 HG00738.hp2 HG01884.hp1 others(37): Show |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378898 | |||||||
| chr17:36378946 | A | G | 79 | a0001c0001t0001g0083a0001c0001t0001g0094a0002c0003t0001g0001others(76): Show | 98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1081+450T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378946 | |||||||
| chr17:36378947 | G | A | 6 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0019others(3): Show | 7 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.1081+449C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378947 | |||||||
| chr17:36378951 | C | T | 1 | a0004c0025t0007g0069 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1081+445G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378951 | |||||||
| chr17:36378952 | G | C | 12 | a0003c0002t0002g0080a0003c0002t0002g0081a0003c0002t0002g0087others(9): Show | 13 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1081+444C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378952 | |||||||
| chr17:36378963 | T | A | 13 | a0003c0002t0002g0080a0003c0002t0002g0081a0003c0002t0002g0087others(10): Show | 14 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.1081+433A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36378963 | |||||||
| chr17:36379191 | G | A | 11 | a0001c0001t0001g0083a0001c0001t0001g0094a0003c0026t0001g0112others(8): Show | 12 | HG01928.hp2 HG01981.hp1 HG02040.hp2 others(9): Show |
intron_variant | MODIFIER | c.1081+205C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36379191 | |||||||
| chr17:36379238 | C | CCGGTGGG others(19): Show |
1 | a0006c0006t0003g0048 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1081+132_1081+157d others(28): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36379238 | |||||||
| chr17:36379241 | G | A | 1 | a0001c0001t0001g0016 | 2 | HG01192.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1081+155C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36379241 | |||||||
| chr17:36379329 | C | T | 1 | a0023c0022t0008g0108 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1081+67G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36379329 | |||||||
| chr17:36379380 | T | C | 1 | a0002c0003t0001g0041 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1081+16A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 13/13 | chr17 | 36379380 | |||||||
| chr17:36379607 | T | C | 62 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(59): Show | 76 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.929-59A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379607 | |||||||
| chr17:36379610 | C | A | 15 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0040others(12): Show | 21 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.929-62G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379610 | |||||||
| chr17:36379635 | G | T | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-87C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379635 | |||||||
| chr17:36379643 | G | A | 3 | a0001c0001t0001g0096a0011c0017t0006g0078a0011c0018t0006g0079 | 3 | HG00280.hp1 HG02055.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.929-95C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379643 | |||||||
| chr17:36379677 | T | C | 9 | a0002c0003t0001g0033a0004c0025t0007g0069a0005c0015t0004g0065others(6): Show | 9 | HG01192.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.929-129A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379677 | |||||||
| chr17:36379702 | C | T | 1 | a0005c0005t0001g0099 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.929-154G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379702 | |||||||
| chr17:36379703 | G | A | 1 | a0015c0024t0001g0071 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.929-155C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379703 | |||||||
| chr17:36379705 | T | C | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-157A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379705 | |||||||
| chr17:36379707 | CGG | C | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-161_929-160del others(2): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379707 | |||||||
| chr17:36379711 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-163G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379711 | |||||||
| chr17:36379713 | G | T | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-165C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379713 | |||||||
| chr17:36379715 | G | A | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-167C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379715 | |||||||
| chr17:36379719 | TGCTCA | T | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-176_929-172del others(5): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379719 | |||||||
| chr17:36379726 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-178G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379726 | |||||||
| chr17:36379728 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-180G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379728 | |||||||
| chr17:36379730 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-182G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379730 | |||||||
| chr17:36379732 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.929-184G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379732 | |||||||
| chr17:36379734 | C | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+185G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379734 | |||||||
| chr17:36379735 | G | GTGAGC | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+183_928+184ins others(5): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379735 | |||||||
| chr17:36379740 | T | C | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+179A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379740 | |||||||
| chr17:36379741 | C | CCT | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+177_928+178ins others(2): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379741 | |||||||
| chr17:36379742 | A | G | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+177T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379742 | |||||||
| chr17:36379745 | T | C | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+174A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379745 | |||||||
| chr17:36379746 | G | A | 1 | a0004c0025t0007g0069 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.928+173C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379746 | |||||||
| chr17:36379748 | G | A | 3 | a0013c0039t0001g0044a0023c0022t0008g0108a0026c0027t0001g0082 | 3 | HG01106.hp2 HG04115.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.928+171C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379748 | |||||||
| chr17:36379756 | G | A | 18 | a0004c0025t0007g0069a0006c0006t0003g0010a0006c0006t0003g0047others(15): Show | 19 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.928+163C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379756 | |||||||
| chr17:36379768 | G | A | 2 | a0001c0001t0001g0094a0030c0021t0001g0042 | 2 | HG01928.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.928+151C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379768 | |||||||
| chr17:36379801 | A | G | 18 | a0004c0025t0007g0069a0006c0006t0003g0010a0006c0006t0003g0047others(15): Show | 19 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.928+118T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379801 | |||||||
| chr17:36379825 | A | C | 21 | a0001c0001t0001g0094a0004c0025t0007g0069a0004c0041t0007g0061others(18): Show | 22 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.928+94T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 12/13 | chr17 | 36379825 | |||||||
| chr17:36380074 | T | A | 1 | a0029c0031t0001g0026 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.829-56A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380074 | |||||||
| chr17:36380134 | C | G | 6 | a0007c0007t0001g0005a0007c0007t0001g0053a0010c0010t0005g0021others(3): Show | 9 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.829-116G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380134 | |||||||
| chr17:36380221 | A | C | 1 | a0001c0001t0001g0100 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.829-203T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380221 | |||||||
| chr17:36380261 | T | A | 1 | a0001c0001t0001g0017 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.828+221A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380261 | |||||||
| chr17:36380267 | C | T | 2 | a0001c0001t0001g0017a0017c0037t0009g0043 | 3 | HG02723.hp1 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.828+215G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380267 | |||||||
| chr17:36380281 | G | C | 1 | a0001c0001t0001g0017 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.828+201C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380281 | |||||||
| chr17:36380316 | G | T | 18 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(15): Show | 19 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.828+166C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380316 | |||||||
| chr17:36380330 | C | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.828+152G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380330 | |||||||
| chr17:36380333 | C | T | 17 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.828+149G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380333 | |||||||
| chr17:36380384 | C | T | 2 | a0013c0039t0001g0044a0026c0027t0001g0082 | 2 | HG01106.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.828+98G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380384 | |||||||
| chr17:36380420 | G | A | 1 | a0006c0006t0003g0049 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.828+62C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 11/13 | chr17 | 36380420 | |||||||
| chr17:36380621 | C | G | 9 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(6): Show | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.763-74G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380621 | |||||||
| chr17:36380692 | G | A | 1 | a0002c0003t0001g0075 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.763-145C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380692 | |||||||
| chr17:36380722 | T | C | 53 | a0001c0001t0001g0102a0002c0003t0001g0001a0002c0003t0001g0031others(50): Show | 60 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.763-175A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380722 | |||||||
| chr17:36380723 | G | C | 1 | a0010c0010t0005g0046 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.763-176C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380723 | |||||||
| chr17:36380737 | C | T | 1 | a0029c0031t0001g0026 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.763-190G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380737 | |||||||
| chr17:36380859 | T | C | 17 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.762+73A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380859 | |||||||
| chr17:36380868 | C | G | 18 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(15): Show | 24 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.762+64G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 10/13 | chr17 | 36380868 | |||||||
| chr17:36381115 | C | A | 1 | a0026c0027t0001g0082 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.668-89G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381115 | |||||||
| chr17:36381129 | C | CTA | 17 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.668-104_668-103ins others(2): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381129 | |||||||
| chr17:36381143 | A | C | 9 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0084others(6): Show | 14 | HG00544.hp1 HG02523.hp1 NA18939.hp2 others(11): Show |
intron_variant | MODIFIER | c.668-117T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381143 | |||||||
| chr17:36381143 | A | G | 9 | a0002c0003t0001g0055a0002c0013t0001g0058a0002c0013t0004g0057others(6): Show | 9 | HG01070.hp2 HG02258.hp2 HG02273.hp2 others(6): Show |
intron_variant | MODIFIER | c.668-117T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381143 | |||||||
| chr17:36381214 | A | C | 2 | a0003c0002t0002g0080a0004c0041t0007g0061 | 2 | HG03139.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.668-188T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381214 | |||||||
| chr17:36381257 | A | G | 1 | a0030c0021t0001g0042 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.668-231T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381257 | |||||||
| chr17:36381283 | T | C | 9 | a0001c0001t0001g0093a0007c0007t0001g0005a0007c0007t0001g0053others(6): Show | 12 | HG00738.hp1 HG01884.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.668-257A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381283 | |||||||
| chr17:36381287 | C | T | 1 | a0004c0041t0007g0061 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.668-261G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381287 | |||||||
| chr17:36381314 | G | A | 16 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0106others(13): Show | 18 | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.668-288C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381314 | |||||||
| chr17:36381342 | A | AG | 19 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(16): Show | 23 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.668-317dupC | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381342 | |||||||
| chr17:36381342 | A | G | 11 | a0002c0003t0001g0055a0002c0013t0001g0058a0002c0013t0004g0057others(8): Show | 11 | HG01070.hp2 HG02258.hp2 HG02273.hp2 others(8): Show |
intron_variant | MODIFIER | c.668-316T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381342 | |||||||
| chr17:36381348 | C | CAGGGGAT others(6): Show |
8 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(5): Show | 10 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.668-335_668-323dup others(13): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381348 | |||||||
| chr17:36381389 | A | G | 1 | a0008c0009t0001g0029 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.667+351T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381389 | |||||||
| chr17:36381418 | C | T | 12 | a0003c0002t0002g0002a0003c0002t0002g0011a0003c0002t0002g0085others(9): Show | 19 | HG00544.hp2 HG01952.hp2 HG02027.hp2 others(16): Show |
intron_variant | MODIFIER | c.667+322G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381418 | |||||||
| chr17:36381488 | G | A | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.667+252C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381488 | |||||||
| chr17:36381528 | A | G | 6 | a0001c0001t0001g0105a0006c0006t0003g0047a0006c0006t0003g0048others(3): Show | 6 | HG00558.hp2 HG02129.hp2 HG02523.hp2 others(3): Show |
intron_variant | MODIFIER | c.667+212T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381528 | |||||||
| chr17:36381551 | G | C | 66 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 92 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381551 | |||||||
| chr17:36381556 | G | A | 1 | a0026c0027t0001g0082 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.667+184C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381556 | |||||||
| chr17:36381579 | A | T | 11 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(8): Show | 13 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(10): Show |
intron_variant | MODIFIER | c.667+161T>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381579 | |||||||
| chr17:36381615 | T | C | 58 | a0001c0001t0001g0003a0001c0001t0001g0093a0001c0001t0001g0094others(55): Show | 69 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(66): Show |
intron_variant | MODIFIER | c.667+125A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381615 | |||||||
| chr17:36381678 | T | C | 17 | a0001c0001t0001g0100a0006c0006t0003g0010a0006c0006t0003g0047others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.667+62A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381678 | |||||||
| chr17:36381720 | C | T | 9 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(6): Show | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.667+20G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 9/13 | chr17 | 36381720 | |||||||
| chr17:36381902 | G | A | 1 | a0003c0002t0002g0080 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.547-42C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36381902 | |||||||
| chr17:36382056 | C | A | 9 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(6): Show | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.547-196G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382056 | |||||||
| chr17:36382195 | G | A | 48 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(45): Show | 64 | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.546+209C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382195 | |||||||
| chr17:36382202 | G | A | 1 | a0003c0002t0002g0081 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.546+202C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382202 | |||||||
| chr17:36382209 | T | C | 30 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(27): Show | 36 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382209 | |||||||
| chr17:36382241 | C | A | 2 | a0011c0017t0006g0078a0011c0018t0006g0079 | 2 | HG02055.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.546+163G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382241 | |||||||
| chr17:36382316 | T | G | 2 | a0002c0013t0001g0058a0022c0032t0001g0059 | 2 | HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.546+88A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382316 | |||||||
| chr17:36382324 | A | G | 6 | a0005c0005t0001g0009a0005c0005t0001g0076a0005c0005t0001g0098others(3): Show | 8 | HG00558.hp1 HG00642.hp2 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.546+80T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 8/13 | chr17 | 36382324 | |||||||
| chr17:36382480 | T | G | 1 | a0016c0044t0010g0062 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.498-28A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382480 | |||||||
| chr17:36382601 | G | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.498-149C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382601 | |||||||
| chr17:36382662 | C | T | 1 | a0001c0001t0001g0105 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.498-210G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382662 | |||||||
| chr17:36382685 | A | ATTTTT | 17 | a0001c0001t0001g0101a0002c0013t0001g0058a0006c0006t0003g0010others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.498-238_498-234dup others(5): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382685 | |||||||
| chr17:36382685 | A | ATTTTTTT | 24 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(21): Show | 30 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(27): Show |
intron_variant | MODIFIER | c.498-240_498-234dup others(7): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382685 | |||||||
| chr17:36382726 | G | T | 6 | a0010c0010t0005g0021a0010c0010t0005g0046a0010c0010t0005g0060others(3): Show | 6 | HG01106.hp2 NA18948.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.498-274C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382726 | |||||||
| chr17:36382755 | G | A | 40 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(37): Show | 47 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.498-303C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382755 | |||||||
| chr17:36382840 | A | C | 65 | a0001c0001t0001g0093a0002c0003t0001g0001a0002c0003t0001g0031others(62): Show | 81 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(78): Show |
intron_variant | MODIFIER | c.498-388T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382840 | |||||||
| chr17:36382940 | T | G | 17 | a0005c0015t0004g0065a0005c0023t0004g0067a0006c0006t0003g0010others(14): Show | 18 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.498-488A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36382940 | |||||||
| chr17:36383008 | C | A | 1 | a0001c0001t0001g0109 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.498-556G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383008 | |||||||
| chr17:36383009 | G | A | 13 | a0003c0002t0002g0002a0003c0002t0002g0011a0003c0002t0002g0080others(10): Show | 20 | HG00544.hp2 HG01891.hp2 HG01952.hp2 others(17): Show |
intron_variant | MODIFIER | c.498-557C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383009 | |||||||
| chr17:36383076 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.498-624G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383076 | |||||||
| chr17:36383082 | C | T | 16 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(13): Show | 17 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(14): Show |
intron_variant | MODIFIER | c.497+619G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383082 | |||||||
| chr17:36383104 | G | A | 1 | a0001c0001t0001g0111 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.497+597C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383104 | |||||||
| chr17:36383119 | G | C | 1 | a0023c0022t0008g0108 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.497+582C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383119 | |||||||
| chr17:36383177 | G | C | 16 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(13): Show | 17 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(14): Show |
intron_variant | MODIFIER | c.497+524C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383177 | |||||||
| chr17:36383258 | T | G | 40 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(37): Show | 48 | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.497+443A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383258 | |||||||
| chr17:36383319 | A | G | 1 | a0001c0001t0001g0100 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.497+382T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383319 | |||||||
| chr17:36383359 | TG | T | 16 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(13): Show | 17 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(14): Show |
intron_variant | MODIFIER | c.497+341delC | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383359 | |||||||
| chr17:36383362 | G | C | 6 | a0005c0005t0001g0009a0005c0005t0001g0076a0005c0005t0001g0098others(3): Show | 8 | HG00558.hp1 HG00642.hp2 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.497+339C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383362 | |||||||
| chr17:36383416 | C | T | 1 | a0005c0005t0001g0098 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.497+285G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383416 | |||||||
| chr17:36383444 | C | T | 8 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(5): Show | 9 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.497+257G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383444 | |||||||
| chr17:36383468 | G | A | 3 | a0007c0007t0001g0005a0007c0007t0001g0053a0020c0029t0001g0054 | 6 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+233C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383468 | |||||||
| chr17:36383479 | C | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.497+222G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383479 | |||||||
| chr17:36383494 | G | C | 4 | a0005c0005t0001g0009a0005c0005t0001g0076a0005c0005t0001g0103others(1): Show | 6 | HG00558.hp1 HG00642.hp2 HG00741.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+207C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383494 | |||||||
| chr17:36383563 | C | T | 2 | a0005c0015t0004g0065a0021c0016t0004g0066 | 2 | HG02895.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.497+138G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383563 | |||||||
| chr17:36383691 | G | A | 24 | a0003c0002t0002g0002a0003c0002t0002g0011a0003c0002t0002g0080others(21): Show | 33 | HG00544.hp2 HG00738.hp2 HG01891.hp2 others(30): Show |
intron_variant | MODIFIER | c.497+10C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383691 | |||||||
| chr17:36383691 | G | T | 7 | a0010c0010t0005g0021a0010c0010t0005g0046a0010c0010t0005g0060others(4): Show | 7 | HG01106.hp2 HG02723.hp1 NA18948.hp1 others(4): Show |
intron_variant | MODIFIER | c.497+10C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 7/13 | chr17 | 36383691 | |||||||
| chr17:36383829 | A | C | 21 | a0004c0004t0001g0068a0005c0005t0001g0098a0005c0005t0001g0099others(18): Show | 22 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.388-19T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/13 | chr17 | 36383829 | |||||||
| chr17:36383900 | C | T | 1 | a0002c0003t0001g0075 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.388-90G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/13 | chr17 | 36383900 | |||||||
| chr17:36383918 | G | A | 3 | a0005c0015t0004g0065a0005c0023t0004g0067a0021c0016t0004g0066 | 3 | HG02723.hp2 HG02895.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.388-108C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/13 | chr17 | 36383918 | |||||||
| chr17:36384070 | C | T | 3 | a0002c0003t0001g0031a0008c0009t0001g0029a0019c0033t0001g0030 | 3 | HG02738.hp2 HG03017.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.387+70G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 6/13 | chr17 | 36384070 | |||||||
| chr17:36384263 | G | A | 6 | a0010c0010t0005g0021a0010c0010t0005g0046a0010c0010t0005g0060others(3): Show | 6 | HG01106.hp2 NA18948.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.280-16C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384263 | |||||||
| chr17:36384329 | C | T | 2 | a0013c0039t0001g0044a0026c0027t0001g0082 | 2 | HG01106.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.280-82G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384329 | |||||||
| chr17:36384330 | G | A | 20 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(17): Show | 26 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.280-83C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384330 | |||||||
| chr17:36384393 | G | C | 1 | a0025c0019t0001g0092 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.280-146C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384393 | |||||||
| chr17:36384417 | C | G | 20 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(17): Show | 23 | HG00099.hp2 HG00558.hp2 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.280-170G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384417 | |||||||
| chr17:36384424 | G | A | 5 | a0010c0010t0005g0021a0010c0010t0005g0046a0010c0010t0005g0060others(2): Show | 5 | HG01106.hp2 NA18948.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.280-177C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384424 | |||||||
| chr17:36384460 | C | A | 55 | a0001c0001t0001g0104a0002c0003t0001g0001a0002c0003t0001g0031others(52): Show | 64 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(61): Show |
intron_variant | MODIFIER | c.280-213G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384460 | |||||||
| chr17:36384632 | C | CA | 2 | a0013c0039t0001g0044a0026c0027t0001g0082 | 2 | HG01106.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.279+58dupT | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 5/13 | chr17 | 36384632 | |||||||
| chr17:36384824 | G | A | 7 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0084others(4): Show | 12 | HG00544.hp1 HG02523.hp1 NA18939.hp2 others(9): Show |
intron_variant | MODIFIER | c.199-53C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36384824 | |||||||
| chr17:36384830 | G | A | 3 | a0001c0001t0001g0107a0004c0004t0001g0077a0004c0004t0001g0091 | 3 | HG02148.hp1 HG03669.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.199-59C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36384830 | |||||||
| chr17:36384841 | C | T | 10 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(7): Show | 12 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(9): Show |
intron_variant | MODIFIER | c.199-70G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36384841 | |||||||
| chr17:36384867 | C | T | 3 | a0005c0015t0004g0065a0005c0023t0004g0067a0021c0016t0004g0066 | 3 | HG02723.hp2 HG02895.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.199-96G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36384867 | |||||||
| chr17:36385029 | G | A | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.198+225C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36385029 | |||||||
| chr17:36385084 | C | G | 1 | a0004c0004t0001g0077 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.198+170G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 4/13 | chr17 | 36385084 | |||||||
| chr17:36385338 | G | C | 9 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(6): Show | 10 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.159-45C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385338 | |||||||
| chr17:36385364 | C | T | 1 | a0024c0020t0001g0097 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.159-71G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385364 | |||||||
| chr17:36385458 | T | C | 59 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(56): Show | 68 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(65): Show |
intron_variant | MODIFIER | c.159-165A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385458 | |||||||
| chr17:36385465 | G | A | 9 | a0004c0004t0001g0012a0004c0004t0001g0013a0004c0004t0001g0019others(6): Show | 11 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.159-172C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385465 | |||||||
| chr17:36385535 | G | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(6): Show | 17 | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.159-242C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385535 | |||||||
| chr17:36385555 | A | G | 14 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(11): Show | 15 | HG00099.hp2 HG00558.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.159-262T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385555 | |||||||
| chr17:36385602 | GA | G | 20 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(17): Show | 26 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.159-310delT | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385602 | |||||||
| chr17:36385694 | G | A | 38 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(35): Show | 54 | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.159-401C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385694 | |||||||
| chr17:36385787 | A | G | 60 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(57): Show | 69 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.159-494T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385787 | |||||||
| chr17:36385825 | C | G | 3 | a0007c0007t0001g0005a0007c0007t0001g0053a0020c0029t0001g0054 | 6 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.159-532G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385825 | |||||||
| chr17:36385828 | A | G | 2 | a0028c0035t0005g0027a0029c0031t0001g0026 | 2 | NA19057.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.159-535T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385828 | |||||||
| chr17:36385859 | G | C | 10 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(7): Show | 12 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(9): Show |
intron_variant | MODIFIER | c.159-566C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385859 | |||||||
| chr17:36385864 | A | G | 61 | a0001c0001t0001g0111a0002c0003t0001g0001a0002c0003t0001g0031others(58): Show | 70 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(67): Show |
intron_variant | MODIFIER | c.159-571T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385864 | |||||||
| chr17:36385913 | C | A | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.159-620G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36385913 | |||||||
| chr17:36386062 | C | CT | 59 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(56): Show | 68 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(65): Show |
intron_variant | MODIFIER | c.158+513_158+514ins others(1): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386062 | |||||||
| chr17:36386064 | C | T | 1 | a0003c0002t0002g0085 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.158+512G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386064 | |||||||
| chr17:36386117 | G | A | 1 | a0002c0003t0001g0075 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.158+459C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386117 | |||||||
| chr17:36386214 | C | A | 18 | a0003c0002t0002g0002a0003c0002t0002g0011a0003c0002t0002g0080others(15): Show | 28 | HG00544.hp2 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.158+362G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386214 | |||||||
| chr17:36386226 | C | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.158+350G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386226 | |||||||
| chr17:36386256 | T | G | 52 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(49): Show | 62 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.158+320A>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386256 | |||||||
| chr17:36386266 | A | C | 3 | a0003c0002t0002g0080a0003c0002t0002g0081a0026c0027t0001g0082 | 3 | HG01891.hp2 NA18950.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.158+310T>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386266 | |||||||
| chr17:36386266 | A | G | 6 | a0006c0006t0003g0010a0010c0010t0005g0021a0010c0010t0005g0060others(3): Show | 7 | HG00099.hp2 HG01106.hp2 HG01346.hp2 others(4): Show |
intron_variant | MODIFIER | c.158+310T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386266 | |||||||
| chr17:36386319 | G | A | 1 | a0002c0003t0001g0041 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.158+257C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386319 | |||||||
| chr17:36386372 | C | T | 3 | a0007c0007t0001g0005a0007c0007t0001g0053a0020c0029t0001g0054 | 6 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.158+204G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386372 | |||||||
| chr17:36386374 | G | C | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.158+202C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386374 | |||||||
| chr17:36386425 | G | T | 1 | a0004c0004t0001g0091 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.158+151C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 3/13 | chr17 | 36386425 | |||||||
| chr17:36386684 | G | C | 1 | a0001c0001t0001g0109 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.73-23C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 2/13 | chr17 | 36386684 | |||||||
| chr17:36386907 | G | A | 3 | a0010c0010t0005g0021a0010c0010t0005g0060a0027c0038t0005g0020 | 3 | NA18948.hp1 NA19007.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.-1-11C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36386907 | |||||||
| chr17:36386919 | G | A | 10 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(7): Show | 11 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.-1-23C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36386919 | |||||||
| chr17:36386927 | T | C | 1 | a0009c0008t0001g0024 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-1-31A>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36386927 | |||||||
| chr17:36386934 | G | C | 1 | a0004c0041t0007g0061 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-1-38C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36386934 | |||||||
| chr17:36387010 | G | A | 1 | a0001c0001t0001g0111 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.-1-114C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387010 | |||||||
| chr17:36387017 | C | A | 36 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(33): Show | 58 | HG00280.hp1 HG00558.hp1 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.-1-121G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387017 | |||||||
| chr17:36387028 | G | A | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-1-132C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387028 | |||||||
| chr17:36387095 | A | G | 21 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(18): Show | 27 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.-1-199T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387095 | |||||||
| chr17:36387307 | G | C | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-1-411C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387307 | |||||||
| chr17:36387309 | C | G | 1 | a0013c0039t0001g0044 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-1-413G>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387309 | |||||||
| chr17:36387314 | C | A | 11 | a0003c0026t0001g0112a0004c0004t0001g0012a0004c0004t0001g0013others(8): Show | 13 | HG00738.hp2 HG01106.hp2 HG01981.hp1 others(10): Show |
intron_variant | MODIFIER | c.-1-418G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387314 | |||||||
| chr17:36387318 | G | A | 1 | a0009c0030t0001g0025 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.-1-422C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387318 | |||||||
| chr17:36387337 | A | G | 10 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(7): Show | 11 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.-1-441T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387337 | |||||||
| chr17:36387341 | G | T | 10 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(7): Show | 11 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.-1-445C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387341 | |||||||
| chr17:36387350 | C | T | 10 | a0006c0006t0003g0010a0006c0006t0003g0047a0006c0006t0003g0048others(7): Show | 11 | HG00099.hp2 HG00558.hp2 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.-1-454G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387350 | |||||||
| chr17:36387367 | T | A | 1 | a0016c0044t0010g0062 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-1-471A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387367 | |||||||
| chr17:36387399 | A | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-1-503T>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387399 | |||||||
| chr17:36387461 | G | A | 1 | a0013c0039t0001g0044 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-1-565C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387461 | |||||||
| chr17:36387469 | G | A | 24 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(21): Show | 30 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(27): Show |
intron_variant | MODIFIER | c.-1-573C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387469 | |||||||
| chr17:36387620 | C | T | 1 | a0013c0039t0001g0044 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-2+705G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387620 | |||||||
| chr17:36387701 | C | T | 1 | a0004c0004t0001g0077 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-2+624G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387701 | |||||||
| chr17:36387727 | C | A | 1 | a0030c0021t0001g0042 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.-2+598G>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387727 | |||||||
| chr17:36387772 | A | G | 1 | a0005c0005t0001g0076 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-2+553T>C | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387772 | |||||||
| chr17:36387781 | A | T | 1 | a0017c0037t0009g0043 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-2+544T>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387781 | |||||||
| chr17:36387807 | C | T | 24 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(21): Show | 30 | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(27): Show |
intron_variant | MODIFIER | c.-2+518G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387807 | |||||||
| chr17:36387888 | C | T | 2 | a0010c0010t0005g0021a0027c0038t0005g0020 | 2 | NA18948.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-2+437G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387888 | |||||||
| chr17:36387901 | GTACCAGT others(7): Show |
G | 9 | a0004c0004t0001g0012a0004c0004t0001g0013a0004c0004t0001g0019others(6): Show | 11 | HG00738.hp2 HG01981.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.-2+410_-2+423delTA others(12): Show |
TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387901 | |||||||
| chr17:36387954 | G | T | 1 | a0003c0002t0002g0011 | 2 | NA18990.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.-2+371C>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36387954 | |||||||
| chr17:36388005 | T | A | 1 | a0003c0002t0002g0113 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-2+320A>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36388005 | |||||||
| chr17:36388086 | G | A | 1 | a0001c0001t0001g0114 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-2+239C>T | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36388086 | |||||||
| chr17:36388283 | C | T | 52 | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0001g0033others(49): Show | 62 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.-2+42G>A | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36388283 | |||||||
| chr17:36388308 | G | C | 1 | a0001c0001t0001g0115 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-2+17C>G | TBC1D3H | ENSG00000274226.6 | transcript | ENST00000610350.4 | protein_coding | 1/13 | chr17 | 36388308 |