Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 101060351 |
| ensemblid | ENSG00000273513.2 |
| hgncid | 51245 |
| symbol | TBC1D3K |
| name | TBC1 domain family member 3K |
| refseq_nuc | NM_001291464.2 |
| refseq_prot | NP_001278393.1 |
| ensembl_nuc | ENST00000620247.2 |
| ensembl_prot | ENSP00000484181.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 37924415 |
| end | 37935371 |
| strand | + |
| ver | v1.2 |
| region | chr17:37924415-37935371 |
| region5000 | chr17:37919415-37940371 |
| regionname0 | TBC1D3K_chr17_37924415_37935371 |
| regionname5000 | TBC1D3K_chr17_37919415_37940371 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 61 | 3 | 7 | 45 | 1 | 5 | 26 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0002 | 0/0 | 549 | 12 | 0 | 0 | 10 | 1 | 1 | 9 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0003 | 0/0 | 549 | 9 | 5 | 1 | 2 | 0 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0004 | 0/0 | 549 | 5 | 1 | 2 | 1 | 0 | 1 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0005 | 0/0 | 549 | 4 | 1 | 3 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0006 | 0/0 | 14 | 3 | 0 | 1 | 2 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(9): Show |
chr17 | 37919415 | 37940371 |
| a0007 | 0/0 | 549 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0008 | 0/0 | 549 | 3 | 0 | 0 | 3 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0009 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0010 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0011 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0012 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0013 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0014 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0015 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0016 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0017 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0018 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0019 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| a0020 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | MDVVE others(544): Show |
chr17 | 37919415 | 37940371 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1647 | 43 | 2 | 7 | 28 | 1 | 5 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0001c0002 | 0/0 | 1647 | 15 | 1 | 0 | 14 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0001c0010 | 0/0 | 1647 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0001c0018 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0002c0004 | 0/0 | 1647 | 5 | 0 | 0 | 5 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0002c0008 | 0/0 | 1647 | 3 | 0 | 0 | 2 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0002c0009 | 0/0 | 1647 | 3 | 0 | 0 | 2 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0002c0026 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0003c0003 | 0/0 | 1647 | 5 | 3 | 1 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0003c0021 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0003c0022 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0003c0025 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0003c0027 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0004c0012 | 0/0 | 1647 | 2 | 0 | 1 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0004c0023 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0004c0030 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0004c0031 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0005c0005 | 0/0 | 1647 | 4 | 1 | 3 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0006c0011 | 0/0 | 1647 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0006c0034 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0007c0007 | 0/0 | 1647 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0008c0006 | 0/0 | 1647 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0009c0028 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0010c0016 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0011c0014 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0012c0029 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0013c0013 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0014c0015 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0015c0019 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0016c0020 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0017c0033 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0018c0017 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0019c0032 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 | ||
| a0020c0024 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | ATGGA others(1642): Show |
chr17 | 37919415 | 37940371 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2121 | 38 | 1 | 5 | 26 | 1 | 5 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0001t0002 | 0/0 | 2121 | 3 | 0 | 2 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0001t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0001t0007 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0002t0001 | 0/0 | 2121 | 14 | 0 | 0 | 14 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0002t0002 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0010t0001 | 0/0 | 2121 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0001c0018t0001 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0004t0003 | 0/0 | 2121 | 4 | 0 | 0 | 4 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0004t0009 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0008t0004 | 0/0 | 2121 | 2 | 0 | 0 | 1 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0008t0006 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0009t0004 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0009t0006 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0002c0009t0010 | 0/0 | 2101 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2096): Show |
chr17 | 37919415 | 37940371 |
| a0002c0026t0004 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0003t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0003t0005 | 0/0 | 2121 | 3 | 1 | 1 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0003t0011 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0021t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0022t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0025t0008 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0003c0027t0007 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0004c0012t0005 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0004c0012t0008 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0004c0023t0006 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0004c0030t0005 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0004c0031t0012 | 0/0 | 2131 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2126): Show |
chr17 | 37919415 | 37940371 |
| a0005c0005t0002 | 0/0 | 2121 | 4 | 1 | 3 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0006c0011t0001 | 0/0 | 2121 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0006c0034t0002 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0007c0007t0002 | 0/0 | 2121 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0007c0007t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0008c0006t0001 | 0/0 | 2121 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0009c0028t0004 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0010c0016t0003 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0011c0014t0002 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0012c0029t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0013c0013t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0014c0015t0005 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0015c0019t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0016c0020t0013 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0017c0033t0005 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0018c0017t0005 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0019c0032t0002 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| a0020c0024t0003 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | GAATG others(2116): Show |
chr17 | 37919415 | 37940371 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 4 | 0 | 1 | 3 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0003 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0005 | 0/0 | 4 | 1 | 3 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0008 | 0/0 | 3 | 0 | 0 | 1 | 1 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0002g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0001t0007g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0001g0001 | 0/0 | 10 | 0 | 0 | 10 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0002t0002g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0010t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0001c0018t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0004t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0004t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0004t0003g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0004t0003g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0004t0009g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0008t0004g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0008t0004g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0008t0006g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0009t0004g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0009t0006g0029 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0009t0010g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0002c0026t0004g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0003t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0003t0005g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0003t0005g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0003t0005g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0003t0011g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0021t0004g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0022t0004g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0025t0008g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0003c0027t0007g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0004c0012t0005g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0004c0012t0008g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0004c0023t0006g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0004c0030t0005g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0004c0031t0012g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0005c0005t0002g0004 | 0/0 | 3 | 1 | 2 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0005c0005t0002g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0006c0011t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0006c0034t0002g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0007c0007t0002g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0007c0007t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0007c0007t0003g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0008c0006t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0008c0006t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0009c0028t0004g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0010c0016t0003g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0011c0014t0002g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0012c0029t0004g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0013c0013t0003g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0014c0015t0005g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0015c0019t0003g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0016c0020t0013g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0017c0033t0005g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0018c0017t0005g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0019c0032t0002g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| a0020c0024t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0008 | EUR | GBR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00140 | hp2 | a0002 | c0009 | t0006 | g0029 | EUR | GBR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00423 | hp1 | a0001 | c0002 | t0001 | g0049 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00438 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00544 | hp1 | a0003 | c0027 | t0007 | g0041 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | CHS | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG00639 | hp2 | a0009 | c0028 | t0004 | g0016 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01070 | hp1 | a0006 | c0034 | t0002 | g0004 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01081 | hp1 | a0005 | c0005 | t0002 | g0027 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01081 | hp2 | a0004 | c0012 | t0008 | g0038 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01192 | hp1 | a0010 | c0016 | t0003 | g0071 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01192 | hp2 | a0003 | c0003 | t0005 | g0026 | AMR | PUR | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01257 | hp1 | a0001 | c0001 | t0002 | g0006 | AMR | CLM | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01257 | hp2 | a0005 | c0005 | t0002 | g0004 | AMR | CLM | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0006 | AMR | CLM | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01258 | hp2 | a0005 | c0005 | t0002 | g0004 | AMR | CLM | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01891 | hp1 | a0011 | c0014 | t0002 | g0066 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01891 | hp2 | a0007 | c0007 | t0002 | g0067 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01928 | hp1 | a0004 | c0023 | t0006 | g0032 | AMR | PEL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02027 | hp1 | a0001 | c0002 | t0001 | g0055 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02027 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02055 | hp1 | a0005 | c0005 | t0002 | g0004 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02055 | hp2 | a0007 | c0007 | t0002 | g0068 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02056 | hp2 | a0006 | c0011 | t0001 | g0002 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02074 | hp1 | a0003 | c0003 | t0005 | g0023 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02080 | hp1 | a0006 | c0011 | t0001 | g0002 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02080 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02129 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02132 | hp2 | a0008 | c0006 | t0001 | g0013 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02135 | hp2 | a0002 | c0004 | t0003 | g0009 | EAS | KHV | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CDX | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02165 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CDX | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02622 | hp1 | a0013 | c0013 | t0003 | g0072 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02622 | hp2 | a0001 | c0002 | t0002 | g0065 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02630 | hp1 | a0014 | c0015 | t0005 | g0022 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02630 | hp2 | a0003 | c0003 | t0011 | g0044 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0046 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02717 | hp2 | a0003 | c0022 | t0004 | g0030 | AFR | GWD | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02970 | hp1 | a0003 | c0003 | t0005 | g0025 | AFR | ESN | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02970 | hp2 | a0015 | c0019 | t0003 | g0064 | AFR | ESN | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03225 | hp1 | a0004 | c0030 | t0005 | g0019 | AFR | MSL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03225 | hp2 | a0016 | c0020 | t0013 | g0028 | AFR | MSL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03492 | hp1 | a0018 | c0017 | t0005 | g0021 | SAS | PJL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03492 | hp2 | a0002 | c0008 | t0004 | g0014 | SAS | PJL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0008 | SAS | PJL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03704 | hp2 | a0019 | c0032 | t0002 | g0053 | SAS | PJL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0010 | SAS | BEB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03942 | hp2 | a0004 | c0012 | t0005 | g0037 | SAS | BEB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | STU | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | STU | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG04228 | hp1 | a0003 | c0025 | t0008 | g0024 | SAS | STU | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0054 | SAS | STU | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18612 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18612 | hp2 | a0008 | c0006 | t0001 | g0070 | EAS | CHB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18747 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18941 | hp1 | a0002 | c0004 | t0003 | g0040 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18942 | hp1 | a0002 | c0004 | t0003 | g0043 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18946 | hp2 | a0002 | c0008 | t0006 | g0033 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18965 | hp1 | a0002 | c0004 | t0003 | g0042 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18976 | hp1 | a0002 | c0009 | t0010 | g0045 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18976 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18985 | hp2 | a0002 | c0009 | t0004 | g0015 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18995 | hp1 | a0002 | c0026 | t0004 | g0018 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18997 | hp1 | a0002 | c0004 | t0009 | g0035 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19003 | hp1 | a0020 | c0024 | t0003 | g0009 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19011 | hp2 | a0001 | c0010 | t0001 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19065 | hp2 | a0001 | c0010 | t0001 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19066 | hp1 | a0001 | c0018 | t0001 | g0006 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19066 | hp2 | a0002 | c0008 | t0004 | g0017 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19070 | hp1 | a0001 | c0002 | t0001 | g0011 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19070 | hp2 | a0001 | c0001 | t0007 | g0002 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19082 | hp1 | a0008 | c0006 | t0001 | g0013 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19091 | hp1 | a0004 | c0031 | t0012 | g0020 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ASW | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA20129 | hp2 | a0003 | c0021 | t0004 | g0034 | AFR | ASW | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02486 | hp1 | a0012 | c0029 | t0004 | g0036 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG02486 | hp2 | a0007 | c0007 | t0003 | g0063 | AFR | ACB | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03471 | hp1 | a0003 | c0003 | t0004 | g0031 | AFR | MSL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| HG03471 | hp2 | a0017 | c0033 | t0005 | g0039 | AFR | MSL | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0051 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | TBC1D3K_chr17_37919415_37940371 | TBC1D3K | chr17 | 37919415 | 37940371 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37924558 | T | TCATCAGA others(3): Show |
1 | a0004 | 1 | NA19091.hp1 | splice_region_variant | LOW | c.-13_-4dupCATCAGAAT others(1): Show |
TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | 37924558 | ||||||
| chr17:37926042 | C | T | 1 | a0006 | 1 | HG01070.hp1 | stop_gained | HIGH | c.43C>T | p.Arg15* | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 2/14 | 200/2122 | 43/1650 | 15/549 | chr17 | 37926042 | |||
| chr17:37926048 | G | C | 2 | a0005 a0006 |
5 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(2): Show |
missense_variant | MODERATE | c.49G>C | p.Asp17His | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 2/14 | 206/2122 | 49/1650 | 17/549 | chr17 | 37926048 | |||
| chr17:37927631 | C | T | 1 | a0019 | 1 | HG03704.hp2 | missense_variant | MODERATE | c.187C>T | p.Arg63Trp | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/14 | 344/2122 | 187/1650 | 63/549 | chr17 | 37927631 | |||
| chr17:37928719 | T | C | 7 | a0005 a0006 a0010 others(4): Show |
10 | HG01070.hp1 HG01081.hp1 HG01192.hp1 others(7): Show |
missense_variant | MODERATE | c.350T>C | p.Ile117Thr | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 6/14 | 507/2122 | 350/1650 | 117/549 | chr17 | 37928719 | |||
| chr17:37929108 | A | G | 14 | a0002 a0003 a0004 others(11): Show |
40 | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(37): Show |
missense_variant | MODERATE | c.410A>G | p.Lys137Arg | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/14 | 567/2122 | 410/1650 | 137/549 | chr17 | 37929108 | |||
| chr17:37929143 | G | A | 1 | a0016 | 1 | HG03225.hp2 | missense_variant | MODERATE | c.445G>A | p.Val149Ile | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/14 | 602/2122 | 445/1650 | 149/549 | chr17 | 37929143 | |||
| chr17:37929149 | G | C | 1 | a0017 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.451G>C | p.Gly151Arg | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/14 | 608/2122 | 451/1650 | 151/549 | chr17 | 37929149 | |||
| chr17:37929169 | A | G | 1 | a0016 | 1 | HG03225.hp2 | missense_variant | MODERATE | c.471A>G | p.Ile157Met | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/14 | 628/2122 | 471/1650 | 157/549 | chr17 | 37929169 | |||
| chr17:37930497 | C | A | 1 | a0013 | 1 | HG02622.hp1 | missense_variant&splice_region_variant | MODERATE | c.545C>A | p.Pro182Gln | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/14 | 702/2122 | 545/1650 | 182/549 | chr17 | 37930497 | |||
| chr17:37931120 | G | A | 1 | a0008 | 3 | HG02132.hp2 NA18612.hp2 NA19082.hp1 |
missense_variant | MODERATE | c.625G>A | p.Ala209Thr | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/14 | 782/2122 | 625/1650 | 209/549 | chr17 | 37931120 | |||
| chr17:37933379 | T | A | 1 | a0006 | 2 | HG02056.hp2 HG02080.hp1 |
stop_gained | HIGH | c.954T>A | p.Cys318* | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/14 | 1111/2122 | 954/1650 | 318/549 | chr17 | 37933379 | |||
| chr17:37933485 | A | C | 7 | a0004 a0005 a0006 others(4): Show |
14 | HG01070.hp1 HG01081.hp1 HG01081.hp2 others(11): Show |
missense_variant | MODERATE | c.1060A>C | p.Lys354Gln | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/14 | 1217/2122 | 1060/1650 | 354/549 | chr17 | 37933485 | |||
| chr17:37934601 | C | T | 1 | a0015 | 1 | HG02970.hp2 | missense_variant | MODERATE | c.1195C>T | p.Arg399Trp | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1352/2122 | 1195/1650 | 399/549 | chr17 | 37934601 | |||
| chr17:37934623 | C | T | 7 | a0002 a0007 a0009 others(4): Show |
20 | HG00140.hp2 HG00639.hp2 HG01192.hp1 others(17): Show |
missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1374/2122 | 1217/1650 | 406/549 | chr17 | 37934623 | |||
| chr17:37934845 | T | C | 3 | a0002 a0019 a0020 |
14 | HG00140.hp2 HG02135.hp2 HG03492.hp2 others(11): Show |
missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1596/2122 | 1439/1650 | 480/549 | chr17 | 37934845 | |||
| chr17:37934857 | C | A | 4 | a0002 a0009 a0010 others(1): Show |
15 | HG00140.hp2 HG00639.hp2 HG01192.hp1 others(12): Show |
missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1608/2122 | 1451/1650 | 484/549 | chr17 | 37934857 | |||
| chr17:37934983 | A | C | 1 | a0009 | 1 | HG00639.hp2 | missense_variant | MODERATE | c.1577A>C | p.Gln526Pro | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1734/2122 | 1577/1650 | 526/549 | chr17 | 37934983 |
| 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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37926023 | C | T | 3 | a0005c0005 a0006c0034 a0017c0033 |
6 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(3): Show |
synonymous_variant | LOW | c.24C>T | p.Gly8Gly | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 2/14 | 181/2122 | 24/1650 | 8/549 | chr17 | 37926023 | |||
| chr17:37928172 | G | C | 1 | a0013c0013 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.246G>C | p.Leu82Leu | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/14 | 403/2122 | 246/1650 | 82/549 | chr17 | 37928172 | |||
| chr17:37929151 | G | C | 1 | a0013c0013 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.453G>C | p.Gly151Gly | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/14 | 610/2122 | 453/1650 | 151/549 | chr17 | 37929151 | |||
| chr17:37930492 | T | C | 14 | a0002c0004 a0002c0008 a0003c0003 others(11): Show |
28 | HG01070.hp1 HG01081.hp1 HG01081.hp2 others(25): Show |
synonymous_variant | LOW | c.540T>C | p.Tyr180Tyr | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/14 | 697/2122 | 540/1650 | 180/549 | chr17 | 37930492 | |||
| chr17:37931155 | C | T | 2 | a0004c0031 a0018c0017 |
2 | HG03492.hp1 NA19091.hp1 |
synonymous_variant | LOW | c.660C>T | p.Ser220Ser | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/14 | 817/2122 | 660/1650 | 220/549 | chr17 | 37931155 | |||
| chr17:37932944 | T | C | 6 | a0001c0018 a0002c0008 a0003c0021 others(3): Show |
8 | HG01891.hp1 HG01928.hp1 HG02717.hp2 others(5): Show |
synonymous_variant | LOW | c.889T>C | p.Leu297Leu | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/14 | 1046/2122 | 889/1650 | 297/549 | chr17 | 37932944 | |||
| chr17:37933370 | G | A | 1 | a0001c0010 | 2 | NA19011.hp2 NA19065.hp2 |
synonymous_variant | LOW | c.945G>A | p.Thr315Thr | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/14 | 1102/2122 | 945/1650 | 315/549 | chr17 | 37933370 | |||
| chr17:37933496 | G | A | 1 | a0002c0026 | 1 | NA18995.hp1 | synonymous_variant | LOW | c.1071G>A | p.Leu357Leu | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/14 | 1228/2122 | 1071/1650 | 357/549 | chr17 | 37933496 | |||
| chr17:37934600 | G | A | 1 | a0003c0027 | 1 | HG00544.hp1 | synonymous_variant | LOW | c.1194G>A | p.Pro398Pro | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1351/2122 | 1194/1650 | 398/549 | chr17 | 37934600 | |||
| chr17:37934831 | G | A | 26 | a0001c0002 a0002c0004 a0002c0008 others(23): Show |
58 | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(55): Show |
synonymous_variant | LOW | c.1425G>A | p.Arg475Arg | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 1582/2122 | 1425/1650 | 475/549 | chr17 | 37934831 |
| 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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37924434 | C | A | 9 | a0002c0004t0009 a0002c0008t0004 a0002c0009t0004 others(6): Show |
10 | HG00639.hp2 HG02486.hp1 HG02717.hp2 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-138C>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | 1566 | chr17 | 37924434 | ||||||
| chr17:37924439 | A | G | 20 | a0002c0004t0009 a0002c0008t0004 a0002c0009t0004 others(17): Show |
23 | HG00639.hp2 HG01081.hp2 HG01192.hp2 others(20): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-133A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | chr17 | 37924439 | |||||||
| chr17:37924445 | T | C | 1 | a0003c0003t0011 | 1 | HG02630.hp2 | 5_prime_UTR_variant | MODIFIER | c.-127T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | 1555 | chr17 | 37924445 | ||||||
| chr17:37924452 | C | T | 10 | a0001c0001t0003 a0001c0001t0007 a0002c0004t0003 others(7): Show |
13 | HG00544.hp1 HG01192.hp1 HG02135.hp2 others(10): Show |
5_prime_UTR_variant | MODIFIER | c.-120C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | 1548 | chr17 | 37924452 | ||||||
| chr17:37924457 | G | C | 32 | a0001c0001t0003 a0001c0001t0007 a0002c0004t0003 others(29): Show |
38 | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(35): Show |
5_prime_UTR_variant | MODIFIER | c.-115G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | 1543 | chr17 | 37924457 | ||||||
| chr17:37924520 | GGTTTTCT others(13): Show |
G | 1 | a0002c0009t0010 | 1 | NA18976.hp1 | 5_prime_UTR_variant | MODIFIER | c.-50_-31delTTTTCTCC others(12): Show |
TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/14 | 1459 | INFO_REALIGN_3_PRIME | chr17 | 37924520 | |||||
| chr17:37935237 | A | G | 11 | a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(8): Show |
65 | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(62): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 14/14 | 181 | chr17 | 37935237 |
| 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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37924612 | G | A | 34 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(31): Show |
36 | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.-2+42G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37924612 | |||||||
| chr17:37924758 | C | T | 1 | a0013c0013t0003g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-2+188C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37924758 | |||||||
| chr17:37924838 | C | T | 6 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(3): Show |
6 | HG00544.hp1 HG02135.hp2 NA18941.hp1 others(3): Show |
intron_variant | MODIFIER | c.-2+268C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37924838 | |||||||
| chr17:37924942 | C | T | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-2+372C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37924942 | |||||||
| chr17:37925088 | G | A | 14 | a0002c0008t0004g0014 a0002c0008t0004g0017 a0002c0009t0004g0015 others(11): Show |
14 | HG00639.hp2 HG01192.hp2 HG02074.hp1 others(11): Show |
intron_variant | MODIFIER | c.-2+518G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925088 | |||||||
| chr17:37925234 | G | A | 1 | a0002c0009t0010g0045 | 1 | NA18976.hp1 | intron_variant | MODIFIER | c.-2+664G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925234 | |||||||
| chr17:37925275 | G | A | 1 | a0005c0005t0002g0027 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-2+705G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925275 | |||||||
| chr17:37925426 | C | T | 13 | a0002c0009t0010g0045 a0003c0003t0005g0023 a0003c0003t0005g0025 others(10): Show |
13 | HG01081.hp2 HG01192.hp2 HG02074.hp1 others(10): Show |
intron_variant | MODIFIER | c.-1-573C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925426 | |||||||
| chr17:37925434 | C | T | 3 | a0005c0005t0002g0004 a0005c0005t0002g0027 a0006c0034t0002g0004 |
5 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1-565C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925434 | |||||||
| chr17:37925440 | C | A | 1 | a0004c0030t0005g0019 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-1-559C>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925440 | |||||||
| chr17:37925581 | G | T | 3 | a0005c0005t0002g0004 a0005c0005t0002g0027 a0006c0034t0002g0004 |
5 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1-418G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925581 | |||||||
| chr17:37925586 | G | C | 3 | a0005c0005t0002g0004 a0005c0005t0002g0027 a0006c0034t0002g0004 |
5 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1-413G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925586 | |||||||
| chr17:37925690 | G | A | 1 | a0016c0020t0013g0028 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-1-309G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925690 | |||||||
| chr17:37925800 | T | C | 10 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0005g0026 others(7): Show |
10 | HG01192.hp2 HG02074.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-1-199T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925800 | |||||||
| chr17:37925968 | G | A | 29 | a0001c0001t0001g0047 a0001c0001t0003g0046 a0002c0004t0009g0035 others(26): Show |
31 | HG00140.hp2 HG00639.hp2 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.-1-31G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 1/13 | chr17 | 37925968 | |||||||
| chr17:37926088 | T | G | 1 | a0004c0031t0012g0020 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.72+17T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 2/13 | chr17 | 37926088 | |||||||
| chr17:37926207 | C | T | 1 | a0010c0016t0003g0071 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.73-27C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 2/13 | chr17 | 37926207 | |||||||
| chr17:37926357 | G | A | 1 | a0003c0003t0011g0044 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.158+38G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926357 | |||||||
| chr17:37926380 | CT | C | 2 | a0004c0030t0005g0019 a0004c0031t0012g0020 |
2 | HG03225.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.158+65delT | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | 37926380 | ||||||
| chr17:37926481 | C | T | 2 | a0008c0006t0001g0013 a0008c0006t0001g0070 |
3 | HG02132.hp2 NA18612.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.158+162C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926481 | |||||||
| chr17:37926482 | G | A | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.158+163G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926482 | |||||||
| chr17:37926636 | CA | C | 2 | a0004c0030t0005g0019 a0016c0020t0013g0028 |
2 | HG03225.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.158+320delA | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | 37926636 | ||||||
| chr17:37926639 | A | C | 45 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(42): Show |
49 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.158+320A>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926639 | |||||||
| chr17:37926643 | G | A | 1 | a0001c0001t0001g0007 | 3 | HG00423.hp2 NA18997.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.158+324G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926643 | |||||||
| chr17:37926672 | T | A | 1 | a0002c0009t0006g0029 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.158+353T>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926672 | |||||||
| chr17:37926681 | T | G | 50 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(47): Show |
54 | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.158+362T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926681 | |||||||
| chr17:37926707 | G | C | 55 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(52): Show |
65 | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(62): Show |
intron_variant | MODIFIER | c.158+388G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926707 | |||||||
| chr17:37926831 | G | C | 1 | a0002c0009t0006g0029 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.158+512G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926831 | |||||||
| chr17:37926832 | GA | G | 2 | a0016c0020t0013g0028 a0017c0033t0005g0039 |
2 | HG03225.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.158+514delA | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926832 | |||||||
| chr17:37926897 | G | A | 1 | a0018c0017t0005g0021 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.158+578G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37926897 | |||||||
| chr17:37927032 | C | T | 2 | a0016c0020t0013g0028 a0017c0033t0005g0039 |
2 | HG03225.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.159-571C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927032 | |||||||
| chr17:37927068 | T | C | 1 | a0018c0017t0005g0021 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.159-535T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927068 | |||||||
| chr17:37927071 | G | C | 1 | a0016c0020t0013g0028 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.159-532G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927071 | |||||||
| chr17:37927109 | C | T | 2 | a0016c0020t0013g0028 a0017c0033t0005g0039 |
2 | HG03225.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.159-494C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927109 | |||||||
| chr17:37927184 | A | C | 2 | a0008c0006t0001g0013 a0008c0006t0001g0070 |
3 | HG02132.hp2 NA18612.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.159-419A>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927184 | |||||||
| chr17:37927202 | C | T | 11 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0005g0026 others(8): Show |
11 | HG01192.hp2 HG02074.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.159-401C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927202 | |||||||
| chr17:37927249 | G | A | 1 | a0013c0013t0003g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.159-354G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927249 | |||||||
| chr17:37927265 | C | A | 1 | a0004c0012t0005g0037 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.159-338C>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927265 | |||||||
| chr17:37927292 | CT | C | 9 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0005g0026 others(6): Show |
9 | HG01192.hp2 HG02074.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.159-310delT | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927292 | |||||||
| chr17:37927356 | G | GC | 5 | a0002c0009t0006g0029 a0002c0009t0010g0045 a0003c0003t0005g0026 others(2): Show |
5 | HG00140.hp2 HG01192.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.159-241dupC | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | 37927356 | ||||||
| chr17:37927368 | A | G | 1 | a0002c0009t0006g0029 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.159-235A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927368 | |||||||
| chr17:37927438 | G | A | 2 | a0016c0020t0013g0028 a0017c0033t0005g0039 |
2 | HG03225.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.159-165G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927438 | |||||||
| chr17:37927450 | G | C | 1 | a0007c0007t0002g0068 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.159-153G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927450 | |||||||
| chr17:37927558 | C | G | 1 | a0001c0002t0002g0065 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.159-45C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 3/13 | chr17 | 37927558 | |||||||
| chr17:37927657 | C | T | 1 | a0007c0007t0002g0067 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.198+15C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/13 | chr17 | 37927657 | |||||||
| chr17:37927732 | G | T | 1 | a0003c0003t0005g0025 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.198+90G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/13 | chr17 | 37927732 | |||||||
| chr17:37927733 | T | G | 1 | a0003c0003t0005g0025 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.198+91T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/13 | chr17 | 37927733 | |||||||
| chr17:37927766 | G | A | 1 | a0003c0022t0004g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.198+124G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/13 | chr17 | 37927766 | |||||||
| chr17:37928066 | C | T | 1 | a0001c0002t0002g0065 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.199-59C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 4/13 | chr17 | 37928066 | |||||||
| chr17:37928337 | G | A | 1 | a0018c0017t0005g0021 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.279+132G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928337 | |||||||
| chr17:37928406 | A | G | 1 | a0008c0006t0001g0070 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.279+201A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928406 | |||||||
| chr17:37928436 | T | G | 4 | a0003c0003t0005g0025 a0004c0012t0008g0038 a0016c0020t0013g0028 others(1): Show |
4 | HG01081.hp2 HG02970.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.280-213T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928436 | |||||||
| chr17:37928472 | C | G | 1 | a0002c0004t0003g0043 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.280-177C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928472 | |||||||
| chr17:37928507 | G | A | 1 | a0001c0001t0001g0005 | 4 | HG00639.hp1 HG01928.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.280-142G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928507 | |||||||
| chr17:37928566 | C | T | 8 | a0001c0001t0003g0046 a0003c0003t0005g0025 a0003c0003t0005g0026 others(5): Show |
8 | HG01192.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.280-83C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 5/13 | chr17 | 37928566 | |||||||
| chr17:37928978 | C | T | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.388-108C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 6/13 | chr17 | 37928978 | |||||||
| chr17:37928996 | G | A | 1 | a0003c0003t0011g0044 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.388-90G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 6/13 | chr17 | 37928996 | |||||||
| chr17:37929498 | C | T | 1 | a0011c0014t0002g0066 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.497+303C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37929498 | |||||||
| chr17:37929534 | C | G | 6 | a0003c0003t0005g0025 a0004c0030t0005g0019 a0010c0016t0003g0071 others(3): Show |
6 | HG01192.hp1 HG01891.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.497+339C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37929534 | |||||||
| chr17:37929638 | C | A | 1 | a0016c0020t0013g0028 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.497+443C>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37929638 | |||||||
| chr17:37929798 | C | T | 1 | a0011c0014t0002g0066 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.497+603C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37929798 | |||||||
| chr17:37929956 | A | C | 15 | a0001c0001t0003g0046 a0002c0004t0003g0009 a0002c0004t0003g0042 others(12): Show |
15 | HG00140.hp2 HG00639.hp2 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.498-494A>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37929956 | |||||||
| chr17:37930056 | G | T | 2 | a0013c0013t0003g0072 a0016c0020t0013g0028 |
2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.498-394G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930056 | |||||||
| chr17:37930141 | C | T | 7 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0005g0026 others(4): Show |
7 | HG01192.hp2 HG01891.hp1 HG02074.hp1 others(4): Show |
intron_variant | MODIFIER | c.498-309C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930141 | |||||||
| chr17:37930152 | C | T | 1 | a0013c0013t0003g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.498-298C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930152 | |||||||
| chr17:37930200 | G | GA | 19 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(16): Show |
19 | HG01081.hp2 HG01192.hp2 HG01928.hp1 others(16): Show |
intron_variant | MODIFIER | c.498-234dupA | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 37930200 | ||||||
| chr17:37930200 | GA | G | 8 | a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0003g0046 others(5): Show |
8 | HG02717.hp1 HG03225.hp1 HG03492.hp1 others(5): Show |
intron_variant | MODIFIER | c.498-234delA | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 37930200 | ||||||
| chr17:37930280 | G | A | 1 | a0013c0013t0003g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.498-170G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930280 | |||||||
| chr17:37930308 | G | A | 29 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(26): Show |
31 | HG01070.hp1 HG01081.hp1 HG01081.hp2 others(28): Show |
intron_variant | MODIFIER | c.498-142G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930308 | |||||||
| chr17:37930349 | A | C | 1 | a0003c0003t0011g0044 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.498-101A>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 7/13 | chr17 | 37930349 | |||||||
| chr17:37930586 | A | C | 4 | a0003c0021t0004g0034 a0005c0005t0002g0004 a0005c0005t0002g0027 others(1): Show |
6 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.546+88A>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/13 | chr17 | 37930586 | |||||||
| chr17:37930693 | A | G | 20 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(17): Show |
20 | HG01081.hp2 HG01192.hp2 HG01928.hp1 others(17): Show |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/13 | chr17 | 37930693 | |||||||
| chr17:37930707 | T | C | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.546+209T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/13 | chr17 | 37930707 | |||||||
| chr17:37930924 | T | C | 39 | a0001c0001t0001g0005 a0001c0001t0001g0050 a0002c0004t0003g0009 others(36): Show |
44 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.547-118T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 8/13 | chr17 | 37930924 | |||||||
| chr17:37931224 | A | G | 5 | a0003c0025t0008g0024 a0005c0005t0002g0004 a0005c0005t0002g0027 others(2): Show |
7 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.667+62A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931224 | |||||||
| chr17:37931259 | G | A | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.667+97G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931259 | |||||||
| chr17:37931287 | A | G | 27 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0004t0003g0042 others(24): Show |
29 | HG01070.hp1 HG01070.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.667+125A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931287 | |||||||
| chr17:37931351 | C | G | 27 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0059 others(24): Show |
29 | HG00140.hp2 HG00639.hp2 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931351 | |||||||
| chr17:37931374 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.667+212T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931374 | |||||||
| chr17:37931387 | G | A | 1 | a0005c0005t0002g0027 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.667+225G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931387 | |||||||
| chr17:37931484 | G | C | 1 | a0001c0001t0001g0048 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.667+322G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931484 | |||||||
| chr17:37931488 | T | C | 1 | a0004c0012t0008g0038 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.667+326T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931488 | |||||||
| chr17:37931513 | T | C | 8 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0002t0001g0055 others(5): Show |
10 | HG00544.hp2 HG01070.hp1 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.667+351T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931513 | |||||||
| chr17:37931546 | C | T | 1 | a0001c0002t0001g0049 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.668-330C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931546 | |||||||
| chr17:37931552 | C | G | 1 | a0009c0028t0004g0016 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.668-324C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931552 | |||||||
| chr17:37931560 | T | C | 12 | a0001c0001t0001g0003 a0001c0001t0001g0052 a0002c0004t0003g0042 others(9): Show |
16 | HG01891.hp1 HG01928.hp1 HG02129.hp2 others(13): Show |
intron_variant | MODIFIER | c.668-316T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931560 | |||||||
| chr17:37931619 | A | G | 2 | a0001c0001t0001g0057 a0016c0020t0013g0028 |
2 | HG00544.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.668-257A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931619 | |||||||
| chr17:37931688 | T | G | 1 | a0002c0026t0004g0018 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.668-188T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931688 | |||||||
| chr17:37931759 | C | T | 32 | a0001c0001t0003g0046 a0002c0004t0003g0009 a0002c0004t0003g0040 others(29): Show |
34 | HG00140.hp2 HG00639.hp2 HG01070.hp1 others(31): Show |
intron_variant | MODIFIER | c.668-117C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931759 | |||||||
| chr17:37931828 | C | T | 1 | a0005c0005t0002g0027 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.668-48C>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 9/13 | chr17 | 37931828 | |||||||
| chr17:37932034 | G | C | 6 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0005g0026 others(3): Show |
6 | HG01192.hp2 HG02074.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.762+64G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932034 | |||||||
| chr17:37932043 | A | AGCCCCTC others(11): Show |
2 | a0001c0001t0001g0069 a0001c0001t0002g0051 |
2 | HG00438.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.762+75_762+92dupCC others(16): Show |
TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | 37932043 | ||||||
| chr17:37932084 | G | T | 1 | a0004c0012t0008g0038 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.762+114G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932084 | |||||||
| chr17:37932087 | T | C | 3 | a0003c0022t0004g0030 a0011c0014t0002g0066 a0013c0013t0003g0072 |
3 | HG01891.hp1 HG02622.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.762+117T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932087 | |||||||
| chr17:37932180 | G | A | 2 | a0004c0012t0008g0038 a0017c0033t0005g0039 |
2 | HG01081.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.763-175G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932180 | |||||||
| chr17:37932242 | A | T | 1 | a0017c0033t0005g0039 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.763-113A>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932242 | |||||||
| chr17:37932281 | G | C | 1 | a0013c0013t0003g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.763-74G>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 10/13 | chr17 | 37932281 | |||||||
| chr17:37932655 | G | A | 25 | a0002c0008t0004g0014 a0002c0008t0004g0017 a0002c0008t0006g0033 others(22): Show |
27 | HG01070.hp1 HG01081.hp1 HG01081.hp2 others(24): Show |
intron_variant | MODIFIER | c.829-229G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 11/13 | chr17 | 37932655 | |||||||
| chr17:37932663 | G | T | 5 | a0002c0004t0003g0009 a0002c0004t0003g0040 a0002c0004t0003g0042 others(2): Show |
5 | HG02135.hp2 NA18941.hp1 NA18942.hp1 others(2): Show |
intron_variant | MODIFIER | c.829-221G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 11/13 | chr17 | 37932663 | |||||||
| chr17:37932707 | A | G | 1 | a0011c0014t0002g0066 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.829-177A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 11/13 | chr17 | 37932707 | |||||||
| chr17:37932820 | G | A | 1 | a0007c0007t0003g0063 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.829-64G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 11/13 | chr17 | 37932820 | |||||||
| chr17:37933077 | T | G | 1 | a0016c0020t0013g0028 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.928+94T>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933077 | |||||||
| chr17:37933101 | T | C | 3 | a0005c0005t0002g0004 a0006c0034t0002g0004 a0016c0020t0013g0028 |
5 | HG01070.hp1 HG01257.hp2 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.928+118T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933101 | |||||||
| chr17:37933195 | G | A | 1 | a0018c0017t0005g0021 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.929-159G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933195 | |||||||
| chr17:37933223 | G | A | 2 | a0004c0031t0012g0020 a0018c0017t0005g0021 |
2 | HG03492.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.929-131G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933223 | |||||||
| chr17:37933225 | G | A | 17 | a0002c0008t0004g0014 a0002c0008t0004g0017 a0002c0008t0006g0033 others(14): Show |
17 | HG01081.hp2 HG01928.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.929-129G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933225 | |||||||
| chr17:37933264 | C | G | 1 | a0001c0001t0001g0059 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.929-90C>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933264 | |||||||
| chr17:37933265 | T | C | 27 | a0001c0001t0001g0058 a0002c0008t0004g0014 a0002c0008t0004g0017 others(24): Show |
29 | HG01070.hp1 HG01081.hp1 HG01081.hp2 others(26): Show |
intron_variant | MODIFIER | c.929-89T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933265 | |||||||
| chr17:37933292 | G | T | 5 | a0003c0003t0005g0023 a0003c0003t0005g0025 a0003c0003t0011g0044 others(2): Show |
5 | HG02074.hp1 HG02630.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.929-62G>T | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933292 | |||||||
| chr17:37933295 | G | A | 2 | a0016c0020t0013g0028 a0017c0033t0005g0039 |
2 | HG03225.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.929-59G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933295 | |||||||
| chr17:37933300 | A | G | 1 | a0001c0001t0001g0050 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.929-54A>G | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 12/13 | chr17 | 37933300 | |||||||
| chr17:37933981 | AGGGCACA others(11): Show |
A | 6 | a0001c0002t0002g0065 a0005c0005t0002g0004 a0005c0005t0002g0027 others(3): Show |
8 | HG01070.hp1 HG01081.hp1 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | 37933981 | ||||||
| chr17:37934035 | T | C | 1 | a0003c0003t0004g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1082-453T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/13 | chr17 | 37934035 | |||||||
| chr17:37934144 | G | A | 1 | a0003c0003t0005g0025 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1082-344G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/13 | chr17 | 37934144 | |||||||
| chr17:37934320 | T | C | 27 | a0001c0001t0001g0011 a0001c0002t0001g0001 a0001c0002t0001g0011 others(24): Show |
38 | HG00423.hp1 HG00438.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.1082-168T>C | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/13 | chr17 | 37934320 | |||||||
| chr17:37934355 | G | A | 1 | a0003c0003t0005g0025 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1082-133G>A | TBC1D3K | ENSG00000273513.2 | transcript | ENST00000620247.2 | protein_coding | 13/13 | chr17 | 37934355 |