Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 101060376 |
| ensemblid | ENSG00000274512.6 |
| hgncid | 51246 |
| symbol | TBC1D3L |
| name | TBC1 domain family member 3L |
| refseq_nuc | NM_001369500.1 |
| refseq_prot | NP_001356429.1 |
| ensembl_nuc | ENST00000612727.5 |
| ensembl_prot | ENSP00000481508.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 37978155 |
| end | 37989060 |
| strand | - |
| ver | v1.2 |
| region | chr17:37978155-37989060 |
| region5000 | chr17:37973155-37994060 |
| regionname0 | TBC1D3L_chr17_37978155_37989060 |
| regionname5000 | TBC1D3L_chr17_37973155_37994060 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0002 | 0/0 | 549 | 2 | 1 | 0 | 1 | 0 | 0 | 1 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0003 | 0/0 | 549 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0004 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0005 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0006 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0007 | 0/0 | 484 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(479): Show |
chr17 | 37973155 | 37994060 |
| a0008 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| a0009 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | MDVVE others(544): Show |
chr17 | 37973155 | 37994060 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1647 | 5 | 5 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0002c0002 | 0/0 | 1647 | 2 | 1 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0003c0003 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0003c0009 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0004c0010 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0005c0004 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0006c0007 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0007c0005 | 0/0 | 1595 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1590): Show |
chr17 | 37973155 | 37994060 | ||
| a0008c0006 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 | ||
| a0009c0008 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | ATGGA others(1642): Show |
chr17 | 37973155 | 37994060 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3491 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0001c0001t0003 | 0/0 | 3491 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0002c0002t0004 | 0/0 | 3491 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0002c0002t0010 | 0/0 | 3505 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3500): Show |
chr17 | 37973155 | 37994060 |
| a0003c0003t0002 | 0/0 | 3491 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0003c0009t0005 | 0/0 | 3491 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0004c0010t0009 | 0/0 | 3505 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3500): Show |
chr17 | 37973155 | 37994060 |
| a0005c0004t0006 | 0/0 | 3491 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3486): Show |
chr17 | 37973155 | 37994060 |
| a0006c0007t0007 | 0/0 | 3505 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3500): Show |
chr17 | 37973155 | 37994060 |
| a0007c0005t0011 | 0/0 | 3453 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3448): Show |
chr17 | 37973155 | 37994060 |
| a0008c0006t0008 | 0/0 | 3505 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3500): Show |
chr17 | 37973155 | 37994060 |
| a0009c0008t0012 | 0/0 | 3505 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | AGTGG others(3500): Show |
chr17 | 37973155 | 37994060 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0001c0001t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0001c0001t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0002c0002t0004g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0002c0002t0010g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0003c0003t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0003c0009t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0004c0010t0009g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0005c0004t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0006c0007t0007g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0007c0005t0011g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0008c0006t0008g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| a0009c0008t0012g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0007 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG02809 | hp2 | a0004 | c0010 | t0009 | g0011 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03139 | hp1 | a0002 | c0002 | t0004 | g0003 | AFR | ESN | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03139 | hp2 | a0003 | c0003 | t0002 | g0001 | AFR | ESN | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03453 | hp1 | a0003 | c0003 | t0002 | g0001 | AFR | MSL | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03453 | hp2 | a0005 | c0004 | t0006 | g0005 | AFR | MSL | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03540 | hp1 | a0003 | c0009 | t0005 | g0004 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03540 | hp2 | a0006 | c0007 | t0007 | g0009 | AFR | GWD | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| HG03579 | hp2 | a0001 | c0001 | t0003 | g0008 | AFR | MSL | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| NA18975 | hp1 | a0002 | c0002 | t0010 | g0012 | EAS | JPT | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| NA18975 | hp2 | a0007 | c0005 | t0011 | g0013 | EAS | JPT | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| NA19009 | hp1 | a0008 | c0006 | t0008 | g0010 | EAS | JPT | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| NA19009 | hp2 | a0009 | c0008 | t0012 | g0014 | EAS | JPT | TBC1D3L_chr17_37973155_37994060 | TBC1D3L | chr17 | 37973155 | 37994060 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37978543 | G | T | 7 | a0001 a0003 a0004 others(4): Show |
13 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(10): Show |
missense_variant | MODERATE | c.1577C>A | p.Pro526Gln | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 3117/3505 | 1577/1650 | 526/549 | chr17 | 37978543 | |||
| chr17:37978667 | GGGATATG others(45): Show |
G | 1 | a0007 | 1 | NA18975.hp2 | frameshift_variant | HIGH | c.1401_1452delTTGGTT others(46): Show |
p.Trp468fs | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 2992/3505 | 1401/1650 | 467/549 | chr17 | 37978667 | |||
| chr17:37978669 | G | T | 1 | a0008 | 1 | NA19009.hp1 | missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 2991/3505 | 1451/1650 | 484/549 | chr17 | 37978669 | |||
| chr17:37978678 | C | T | 1 | a0006 | 1 | HG03540.hp2 | missense_variant | MODERATE | c.1442G>A | p.Arg481His | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 2982/3505 | 1442/1650 | 481/549 | chr17 | 37978678 | |||
| chr17:37978681 | A | G | 1 | a0008 | 1 | NA19009.hp1 | missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 2979/3505 | 1439/1650 | 480/549 | chr17 | 37978681 | |||
| chr17:37978903 | G | A | 1 | a0008 | 1 | NA19009.hp1 | missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 2757/3505 | 1217/1650 | 406/549 | chr17 | 37978903 | |||
| chr17:37980028 | T | G | 7 | a0001 a0003 a0004 others(4): Show |
13 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(10): Show |
missense_variant | MODERATE | c.1073A>C | p.Gln358Pro | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 12/13 | 2613/3505 | 1073/1650 | 358/549 | chr17 | 37980028 | |||
| chr17:37980041 | G | T | 3 | a0001 a0006 a0008 |
7 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(4): Show |
missense_variant | MODERATE | c.1060C>A | p.Gln354Lys | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 12/13 | 2600/3505 | 1060/1650 | 354/549 | chr17 | 37980041 | |||
| chr17:37984801 | G | A | 6 | a0001 a0003 a0006 others(3): Show |
12 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(9): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 5/13 | 1890/3505 | 350/1650 | 117/549 | chr17 | 37984801 | |||
| chr17:37984825 | G | A | 1 | a0001 | 5 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(2): Show |
missense_variant | MODERATE | c.326C>T | p.Pro109Leu | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 5/13 | 1866/3505 | 326/1650 | 109/549 | chr17 | 37984825 | |||
| chr17:37987472 | C | G | 1 | a0004 | 1 | HG02809.hp2 | missense_variant | MODERATE | c.49G>C | p.Asp17His | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 1589/3505 | 49/1650 | 17/549 | chr17 | 37987472 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37980582 | A | G | 1 | a0008c0006 | 1 | NA19009.hp1 | synonymous_variant | LOW | c.889T>C | p.Leu297Leu | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 11/13 | 2429/3505 | 889/1650 | 297/549 | chr17 | 37980582 | |||
| chr17:37982398 | C | G | 1 | a0007c0005 | 1 | NA18975.hp2 | synonymous_variant | LOW | c.633G>C | p.Val211Val | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/13 | 2173/3505 | 633/1650 | 211/549 | chr17 | 37982398 | |||
| chr17:37982449 | G | A | 1 | a0003c0009 | 1 | HG03540.hp1 | synonymous_variant | LOW | c.582C>T | p.Ala194Ala | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/13 | 2122/3505 | 582/1650 | 194/549 | chr17 | 37982449 | |||
| chr17:37983034 | A | G | 7 | a0001c0001 a0003c0003 a0004c0010 others(4): Show |
12 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(9): Show |
synonymous_variant | LOW | c.540T>C | p.Tyr180Tyr | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 7/13 | 2080/3505 | 540/1650 | 180/549 | chr17 | 37983034 | |||
| chr17:37984365 | A | G | 2 | a0003c0003 a0007c0005 |
3 | HG03139.hp2 HG03453.hp1 NA18975.hp2 |
synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/13 | 1997/3505 | 457/1650 | 153/549 | chr17 | 37984365 | |||
| chr17:37987497 | G | A | 1 | a0004c0010 | 1 | HG02809.hp2 | synonymous_variant | LOW | c.24C>T | p.Gly8Gly | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 1564/3505 | 24/1650 | 8/549 | chr17 | 37987497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37978258 | T | G | 1 | a0005c0004t0006 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*212A>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 212 | chr17 | 37978258 | ||||||
| chr17:37978289 | T | C | 4 | a0003c0009t0005 a0005c0004t0006 a0006c0007t0007 others(1): Show |
4 | HG03453.hp2 HG03540.hp1 HG03540.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 13/13 | 181 | chr17 | 37978289 | ||||||
| chr17:37987552 | C | T | 6 | a0001c0001t0001 a0002c0002t0010 a0003c0009t0005 others(3): Show |
8 | HG02615.hp1 HG02809.hp1 HG02809.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-32G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 32 | chr17 | 37987552 | ||||||
| chr17:37987590 | G | C | 1 | a0002c0002t0004 | 1 | HG03139.hp1 | 5_prime_UTR_variant | MODIFIER | c.-70C>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 70 | chr17 | 37987590 | ||||||
| chr17:37987591 | C | G | 1 | a0002c0002t0004 | 1 | HG03139.hp1 | 5_prime_UTR_variant | MODIFIER | c.-71G>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 71 | chr17 | 37987591 | ||||||
| chr17:37987720 | A | G | 5 | a0001c0001t0001 a0001c0001t0003 a0003c0009t0005 others(2): Show |
8 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-200T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 200 | chr17 | 37987720 | ||||||
| chr17:37987934 | C | G | 1 | a0004c0010t0009 | 1 | HG02809.hp2 | 5_prime_UTR_variant | MODIFIER | c.-414G>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 414 | chr17 | 37987934 | ||||||
| chr17:37987939 | C | A | 2 | a0003c0009t0005 a0004c0010t0009 |
2 | HG02809.hp2 HG03540.hp1 |
5_prime_UTR_variant | MODIFIER | c.-419G>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 419 | chr17 | 37987939 | ||||||
| chr17:37987975 | C | T | 1 | a0005c0004t0006 | 1 | HG03453.hp2 | 5_prime_UTR_variant | MODIFIER | c.-455G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 455 | chr17 | 37987975 | ||||||
| chr17:37988086 | G | A | 1 | a0004c0010t0009 | 1 | HG02809.hp2 | 5_prime_UTR_variant | MODIFIER | c.-566C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 566 | chr17 | 37988086 | ||||||
| chr17:37988094 | A | G | 9 | a0001c0001t0001 a0001c0001t0003 a0003c0009t0005 others(6): Show |
12 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(9): Show |
5_prime_UTR_variant | MODIFIER | c.-574T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 574 | chr17 | 37988094 | ||||||
| chr17:37988227 | G | A | 1 | a0009c0008t0012 | 1 | NA19009.hp2 | 5_prime_UTR_variant | MODIFIER | c.-707C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 707 | chr17 | 37988227 | ||||||
| chr17:37988286 | C | T | 1 | a0009c0008t0012 | 1 | NA19009.hp2 | 5_prime_UTR_variant | MODIFIER | c.-766G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 766 | chr17 | 37988286 | ||||||
| chr17:37988318 | G | A | 1 | a0007c0005t0011 | 1 | NA18975.hp2 | 5_prime_UTR_variant | MODIFIER | c.-798C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 798 | chr17 | 37988318 | ||||||
| chr17:37988390 | C | T | 1 | a0003c0003t0002 | 2 | HG03139.hp2 HG03453.hp1 |
5_prime_UTR_variant | MODIFIER | c.-870G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 870 | chr17 | 37988390 | ||||||
| chr17:37988526 | GTACCAGT others(7): Show |
G | 6 | a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 others(3): Show |
10 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-1020_-1007delTAGA others(10): Show |
TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 1007 | chr17 | 37988526 | ||||||
| chr17:37988831 | G | A | 1 | a0009c0008t0012 | 1 | NA19009.hp2 | 5_prime_UTR_variant | MODIFIER | c.-1311C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 1311 | chr17 | 37988831 | ||||||
| chr17:37988891 | C | T | 1 | a0003c0009t0005 | 1 | HG03540.hp1 | 5_prime_UTR_variant | MODIFIER | c.-1371G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | 1371 | chr17 | 37988891 | ||||||
| chr17:37988980 | G | A | 11 | a0001c0001t0001 a0001c0001t0003 a0002c0002t0010 others(8): Show |
15 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(12): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1460C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 1/13 | chr17 | 37988980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:37979133 | G | A | 1 | a0005c0004t0006g0005 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1082-95C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 12/12 | chr17 | 37979133 | |||||||
| chr17:37979206 | G | A | 1 | a0008c0006t0008g0010 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1082-168C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 12/12 | chr17 | 37979206 | |||||||
| chr17:37979522 | GGCCCGGG others(11): Show |
G | 5 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(2): Show |
6 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 12/12 | chr17 | 37979522 | |||||||
| chr17:37980234 | C | A | 5 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(2): Show |
6 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.929-62G>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 11/12 | chr17 | 37980234 | |||||||
| chr17:37980301 | C | T | 7 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(4): Show |
8 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.929-129G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 11/12 | chr17 | 37980301 | |||||||
| chr17:37980425 | A | G | 1 | a0004c0010t0009g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.928+118T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 11/12 | chr17 | 37980425 | |||||||
| chr17:37980798 | G | A | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.829-156C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 10/12 | chr17 | 37980798 | |||||||
| chr17:37980819 | T | C | 3 | a0003c0003t0002g0001 a0007c0005t0011g0013 a0009c0008t0012g0014 |
4 | HG03139.hp2 HG03453.hp1 NA18975.hp2 others(1): Show |
intron_variant | MODIFIER | c.829-177A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 10/12 | chr17 | 37980819 | |||||||
| chr17:37980998 | G | T | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.828+108C>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 10/12 | chr17 | 37980998 | |||||||
| chr17:37981191 | T | G | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.763-20A>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 9/12 | chr17 | 37981191 | |||||||
| chr17:37981245 | C | G | 4 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(1): Show |
5 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.763-74G>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 9/12 | chr17 | 37981245 | |||||||
| chr17:37981346 | C | T | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.763-175G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 9/12 | chr17 | 37981346 | |||||||
| chr17:37981439 | A | G | 3 | a0003c0003t0002g0001 a0007c0005t0011g0013 a0009c0008t0012g0014 |
4 | HG03139.hp2 HG03453.hp1 NA18975.hp2 others(1): Show |
intron_variant | MODIFIER | c.762+117T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 9/12 | chr17 | 37981439 | |||||||
| chr17:37981442 | C | A | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.762+114G>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 9/12 | chr17 | 37981442 | |||||||
| chr17:37981767 | A | G | 1 | a0008c0006t0008g0010 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.668-117T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37981767 | |||||||
| chr17:37981922 | G | A | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.668-272C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37981922 | |||||||
| chr17:37981966 | A | G | 4 | a0003c0003t0002g0001 a0003c0009t0005g0004 a0007c0005t0011g0013 others(1): Show |
5 | HG03139.hp2 HG03453.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.668-316T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37981966 | |||||||
| chr17:37982013 | G | A | 10 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(7): Show |
12 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(9): Show |
intron_variant | MODIFIER | c.667+351C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982013 | |||||||
| chr17:37982038 | A | G | 1 | a0001c0001t0001g0006 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.667+326T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982038 | |||||||
| chr17:37982096 | A | G | 4 | a0001c0001t0001g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 others(1): Show |
5 | HG02615.hp1 HG02615.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.667+268T>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982096 | |||||||
| chr17:37982175 | G | C | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.667+189C>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982175 | |||||||
| chr17:37982205 | C | T | 2 | a0003c0003t0002g0001 a0007c0005t0011g0013 |
3 | HG03139.hp2 HG03453.hp1 NA18975.hp2 |
intron_variant | MODIFIER | c.667+159G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982205 | |||||||
| chr17:37982302 | T | C | 1 | a0004c0010t0009g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.667+62A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 8/12 | chr17 | 37982302 | |||||||
| chr17:37982540 | T | C | 1 | a0005c0004t0006g0005 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.547-56A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 7/12 | chr17 | 37982540 | |||||||
| chr17:37982833 | T | C | 2 | a0001c0001t0001g0006 a0008c0006t0008g0010 |
2 | HG02809.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 7/12 | chr17 | 37982833 | |||||||
| chr17:37982940 | G | T | 10 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(7): Show |
12 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(9): Show |
intron_variant | MODIFIER | c.546+88C>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 7/12 | chr17 | 37982940 | |||||||
| chr17:37983309 | A | ATTTTTT | 3 | a0003c0003t0002g0001 a0004c0010t0009g0011 a0007c0005t0011g0013 |
4 | HG02809.hp2 HG03139.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-239_498-234dup others(6): Show |
TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983309 | |||||||
| chr17:37983309 | A | T | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.498-233T>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983309 | |||||||
| chr17:37983379 | G | A | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.498-303C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983379 | |||||||
| chr17:37983395 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.498-319G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983395 | |||||||
| chr17:37983464 | C | A | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.498-388G>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983464 | |||||||
| chr17:37983488 | C | T | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.498-412G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983488 | |||||||
| chr17:37983564 | T | G | 4 | a0002c0002t0004g0003 a0002c0002t0010g0012 a0003c0009t0005g0004 others(1): Show |
4 | HG03139.hp1 HG03540.hp1 NA18975.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-488A>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983564 | |||||||
| chr17:37983572 | C | T | 1 | a0008c0006t0008g0010 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.498-496G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983572 | |||||||
| chr17:37983573 | T | C | 1 | a0008c0006t0008g0010 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.498-497A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983573 | |||||||
| chr17:37983882 | G | T | 1 | a0003c0009t0005g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.497+443C>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983882 | |||||||
| chr17:37983953 | C | T | 1 | a0001c0001t0003g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.497+372G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983953 | |||||||
| chr17:37983986 | G | C | 8 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(5): Show |
10 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.497+339C>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983986 | |||||||
| chr17:37983989 | T | G | 11 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(8): Show |
13 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(10): Show |
intron_variant | MODIFIER | c.497+336A>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37983989 | |||||||
| chr17:37984113 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.497+212G>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 6/12 | chr17 | 37984113 | |||||||
| chr17:37985448 | G | A | 1 | a0005c0004t0006g0005 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.199-53C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 3/12 | chr17 | 37985448 | |||||||
| chr17:37985697 | T | C | 1 | a0001c0001t0001g0002 | 2 | HG02615.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.198+181A>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 3/12 | chr17 | 37985697 | |||||||
| chr17:37985769 | G | T | 1 | a0004c0010t0009g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.198+109C>A | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 3/12 | chr17 | 37985769 | |||||||
| chr17:37986047 | G | A | 1 | a0002c0002t0010g0012 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.159-130C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37986047 | |||||||
| chr17:37986092 | G | C | 2 | a0002c0002t0004g0003 a0009c0008t0012g0014 |
2 | HG03139.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.159-175C>G | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37986092 | |||||||
| chr17:37986101 | C | G | 1 | a0006c0007t0007g0009 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.159-184G>C | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37986101 | |||||||
| chr17:37986410 | G | A | 1 | a0004c0010t0009g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.159-493C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37986410 | |||||||
| chr17:37986510 | T | A | 1 | a0002c0002t0004g0003 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.159-593A>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37986510 | |||||||
| chr17:37987011 | G | A | 2 | a0007c0005t0011g0013 a0008c0006t0008g0010 |
2 | NA18975.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.158+190C>T | TBC1D3L | ENSG00000274512.6 | transcript | ENST00000612727.5 | protein_coding | 2/12 | chr17 | 37987011 |