Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 107983993 |
| ensemblid | ENSG00000284981.2 |
| hgncid | 53444 |
| symbol | UPK3BL2 |
| name | uroplakin 3B like 2 |
| refseq_nuc | NM_001363506.2 |
| refseq_prot | NP_001350435.1 |
| ensembl_nuc | ENST00000644544.2 |
| ensembl_prot | ENSP00000494359.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 102537919 |
| end | 102543696 |
| strand | - |
| ver | v1.2 |
| region | chr7:102537919-102543696 |
| region5000 | chr7:102532919-102548696 |
| regionname0 | UPK3BL2_chr7_102537919_102543696 |
| regionname5000 | UPK3BL2_chr7_102532919_102548696 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 263 | 175 | 24 | 31 | 90 | 9 | 19 | 66 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | MDNSW others(258): Show |
chr7 | 102532919 | 102548696 |
| a0002 | 0/0 | 37 | 7 | 0 | 5 | 0 | 1 | 1 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | MDNSW others(32): Show |
chr7 | 102532919 | 102548696 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 789 | 171 | 24 | 31 | 87 | 9 | 19 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ATGGA others(784): Show |
chr7 | 102532919 | 102548696 | ||
| a0001c0003 | 0/0 | 789 | 3 | 0 | 0 | 3 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ATGGA others(784): Show |
chr7 | 102532919 | 102548696 | ||
| a0001c0004 | 0/1 | 789 | 1 | 0 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ATGGA others(784): Show |
chr7 | 102532919 | 102548696 | ||
| a0002c0002 | 0/0 | 112 | 7 | 0 | 5 | 0 | 1 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ATGGA others(107): Show |
chr7 | 102532919 | 102548696 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1350 | 153 | 17 | 30 | 79 | 7 | 19 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(1345): Show |
chr7 | 102532919 | 102548696 |
| a0001c0001t0002 | 0/0 | 1348 | 16 | 5 | 1 | 8 | 2 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(1343): Show |
chr7 | 102532919 | 102548696 |
| a0001c0001t0004 | 0/0 | 1348 | 2 | 2 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(1343): Show |
chr7 | 102532919 | 102548696 |
| a0001c0003t0001 | 0/0 | 1350 | 3 | 0 | 0 | 3 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(1345): Show |
chr7 | 102532919 | 102548696 |
| a0001c0004t0005 | 0/1 | 1350 | 1 | 0 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(1345): Show |
chr7 | 102532919 | 102548696 |
| a0002c0002t0003 | 0/0 | 172 | 7 | 0 | 5 | 0 | 1 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | ACAGA others(167): Show |
chr7 | 102532919 | 102548696 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 81 | 8 | 14 | 46 | 2 | 10 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0002 | 0/0 | 56 | 7 | 12 | 27 | 4 | 6 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0005 | 0/0 | 4 | 1 | 1 | 0 | 1 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0007 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0002g0003 | 0/0 | 14 | 3 | 1 | 8 | 2 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0002g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0001t0004g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0003t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0001c0004t0005g0015 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| a0002c0002t0003g0004 | 0/0 | 7 | 0 | 5 | 0 | 1 | 1 | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0005 | EUR | GBR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | GBR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | GBR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0003 | EUR | FIN | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00280 | hp2 | a0002 | c0002 | t0003 | g0004 | EUR | FIN | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0003 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01255 | hp1 | a0002 | c0002 | t0003 | g0004 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01258 | hp2 | a0002 | c0002 | t0003 | g0004 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01433 | hp1 | a0002 | c0002 | t0003 | g0004 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01496 | hp1 | a0002 | c0002 | t0003 | g0004 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01517 | hp1 | a0001 | c0001 | t0002 | g0003 | EUR | IBS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01934 | hp2 | a0002 | c0002 | t0003 | g0004 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02280 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02738 | hp1 | a0002 | c0002 | t0003 | g0004 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | GWD | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | STU | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | STU | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | STU | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18982 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18985 | hp2 | a0001 | c0003 | t0001 | g0006 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18991 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19005 | hp2 | a0001 | c0003 | t0001 | g0006 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19030 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | LWK | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | LWK | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19054 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19054 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19056 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19066 | hp2 | a0001 | c0003 | t0001 | g0006 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03471 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | MSL | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | LWK | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| homoSapiens | chm13v2 | a0001 | c0004 | t0005 | g0015 | REF | REF | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | UPK3BL2_chr7_102532919_102548696 | UPK3BL2 | chr7 | 102532919 | 102548696 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102538517 | C | G | 1 | a0001 | 2 | HG02257.hp1 HG02257.hp2 |
missense_variant | MODERATE | c.692G>C | p.Ser231Thr | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 752/1350 | 692/792 | 231/263 | chr7 | 102538517 | |||
| chr7:102539714 | C | T | 1 | a0001 | 1 | HG00099.hp2 | missense_variant | MODERATE | c.575G>A | p.Arg192Gln | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/6 | 635/1350 | 575/792 | 192/263 | chr7 | 102539714 | |||
| chr7:102540026 | C | T | 1 | a0001 | 51 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(48): Show |
missense_variant | MODERATE | c.551G>A | p.Arg184His | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/6 | 611/1350 | 551/792 | 184/263 | chr7 | 102540026 | |||
| chr7:102540066 | C | T | 1 | a0001 | 2 | HG03492.hp1 HG03831.hp1 |
missense_variant | MODERATE | c.511G>A | p.Glu171Lys | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/6 | 571/1350 | 511/792 | 171/263 | chr7 | 102540066 | |||
| chr7:102541195 | T | C | 1 | a0001 | 3 | HG02723.hp1 HG03486.hp1 HG03486.hp2 |
missense_variant | MODERATE | c.383A>G | p.Gln128Arg | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/6 | 443/1350 | 383/792 | 128/263 | chr7 | 102541195 | |||
| chr7:102541222 | G | A | 1 | a0001 | 2 | HG00280.hp1 HG01169.hp1 |
missense_variant | MODERATE | c.356C>T | p.Thr119Ile | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/6 | 416/1350 | 356/792 | 119/263 | chr7 | 102541222 | |||
| chr7:102541584 | G | A | 1 | a0001 | 10 | HG01515.hp1 HG01928.hp1 HG01943.hp2 others(7): Show |
missense_variant | MODERATE | c.191C>T | p.Thr64Met | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 2/6 | 251/1350 | 191/792 | 64/263 | chr7 | 102541584 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102539652 | G | A | 1 | a0001c0001 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.637C>T | p.Leu213Leu | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/6 | 697/1350 | 637/792 | 213/263 | chr7 | 102539652 | |||
| chr7:102540046 | T | G | 1 | a0001c0001 | 91 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(88): Show |
synonymous_variant | LOW | c.531A>C | p.Thr177Thr | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/6 | 591/1350 | 531/792 | 177/263 | chr7 | 102540046 | |||
| chr7:102541248 | G | A | 1 | a0001c0001 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.330C>T | p.Asn110Asn | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/6 | 390/1350 | 330/792 | 110/263 | chr7 | 102541248 | |||
| chr7:102543568 | C | G | 1 | a0001c0003 | 3 | NA18985.hp2 NA19005.hp2 NA19066.hp2 |
synonymous_variant | LOW | c.69G>C | p.Ser23Ser | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/6 | 129/1350 | 69/792 | 23/263 | chr7 | 102543568 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102537924 | T | G | 2 | a0001c0001t0001 a0001c0003t0001 |
56 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*493A>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 493 | chr7 | 102537924 | ||||||
| chr7:102537942 | T | C | 1 | a0001c0001t0001 | 9 | HG00099.hp2 HG00597.hp2 HG01069.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*475A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 475 | chr7 | 102537942 | ||||||
| chr7:102537980 | G | A | 2 | a0001c0001t0001 a0001c0003t0001 |
80 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*437C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 437 | chr7 | 102537980 | ||||||
| chr7:102538006 | T | C | 2 | a0001c0001t0001 a0001c0003t0001 |
36 | HG00639.hp1 HG00735.hp1 HG01069.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*411A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 411 | chr7 | 102538006 | ||||||
| chr7:102538012 | A | G | 4 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show |
167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
3_prime_UTR_variant | MODIFIER | c.*405T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 405 | chr7 | 102538012 | ||||||
| chr7:102538018 | C | T | 2 | a0001c0001t0001 a0001c0003t0001 |
56 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*399G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 399 | chr7 | 102538018 | ||||||
| chr7:102538033 | C | T | 2 | a0001c0001t0001 a0001c0003t0001 |
34 | HG00639.hp1 HG00735.hp1 HG01069.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*384G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 384 | chr7 | 102538033 | ||||||
| chr7:102538059 | G | A | 2 | a0001c0001t0001 a0001c0003t0001 |
56 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*358C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 358 | chr7 | 102538059 | ||||||
| chr7:102538079 | T | A | 1 | a0001c0001t0001 | 3 | HG00438.hp1 HG01168.hp1 HG01496.hp2 |
3_prime_UTR_variant | MODIFIER | c.*338A>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 338 | chr7 | 102538079 | ||||||
| chr7:102538087 | C | T | 4 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show |
167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
3_prime_UTR_variant | MODIFIER | c.*330G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 330 | chr7 | 102538087 | ||||||
| chr7:102538206 | G | A | 1 | a0001c0001t0004 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*211C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 211 | chr7 | 102538206 | ||||||
| chr7:102538246 | G | A | 1 | a0001c0001t0001 | 4 | HG01261.hp1 HG01433.hp2 HG01928.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*171C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 171 | chr7 | 102538246 | ||||||
| chr7:102538278 | T | G | 1 | a0001c0001t0001 | 3 | HG02109.hp2 HG02257.hp1 HG02257.hp2 |
3_prime_UTR_variant | MODIFIER | c.*139A>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 139 | chr7 | 102538278 | ||||||
| chr7:102538279 | C | CA | 4 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show |
100 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*137dupT | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 137 | chr7 | 102538279 | ||||||
| chr7:102538297 | T | A | 2 | a0001c0001t0001 a0001c0001t0002 |
97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
3_prime_UTR_variant | MODIFIER | c.*120A>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 120 | chr7 | 102538297 | ||||||
| chr7:102538323 | C | T | 1 | a0001c0001t0001 | 4 | HG02723.hp1 HG03471.hp2 HG03486.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*94G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | 94 | chr7 | 102538323 | ||||||
| chr7:102543671 | C | T | 1 | a0001c0001t0004 | 2 | HG03471.hp1 NA19030.hp1 |
5_prime_UTR_variant | MODIFIER | c.-35G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/6 | 35 | chr7 | 102543671 | ||||||
| chr7:102543674 | A | G | 1 | a0001c0001t0004 | 2 | HG03471.hp1 NA19030.hp1 |
5_prime_UTR_variant | MODIFIER | c.-38T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/6 | 38 | chr7 | 102543674 | ||||||
| chr7:102543681 | CCT | C | 2 | a0001c0001t0002 a0001c0001t0004 |
18 | HG00280.hp1 HG01169.hp1 HG01517.hp1 others(15): Show |
5_prime_UTR_variant | MODIFIER | c.-47_-46delAG | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/6 | 46 | chr7 | 102543681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102538572 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(1): Show |
55 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.684-47C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538572 | |||||||
| chr7:102538648 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
21 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(18): Show |
intron_variant | MODIFIER | c.684-123A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538648 | |||||||
| chr7:102538676 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.684-151G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538676 | |||||||
| chr7:102538733 | C | G | 1 | a0001c0001t0001g0002 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.684-208G>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538733 | |||||||
| chr7:102538763 | C | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
21 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(18): Show |
intron_variant | MODIFIER | c.684-238G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538763 | |||||||
| chr7:102538806 | G | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
20 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(17): Show |
intron_variant | MODIFIER | c.684-281C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538806 | |||||||
| chr7:102538828 | A | AGCCCAGT others(11): Show |
1 | a0001c0001t0002g0003 | 2 | HG02897.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.684-321_684-304dup others(18): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538828 | |||||||
| chr7:102538834 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
15 | HG00099.hp2 HG00597.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.684-309C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538834 | |||||||
| chr7:102538882 | ACCCCTCC others(2): Show |
A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show |
8 | HG00735.hp2 HG01071.hp2 HG02004.hp2 others(5): Show |
intron_variant | MODIFIER | c.684-366_684-358del others(9): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538882 | |||||||
| chr7:102538961 | A | C | 9 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
77 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.684-436T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102538961 | |||||||
| chr7:102539056 | C | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0003t0001g0006 |
34 | HG00639.hp1 HG00735.hp1 HG01069.hp2 others(31): Show |
intron_variant | MODIFIER | c.684-531G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539056 | |||||||
| chr7:102539061 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.684-536G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539061 | |||||||
| chr7:102539061 | CT | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show |
17 | HG00099.hp2 HG01069.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.684-537delA | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539061 | |||||||
| chr7:102539062 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 |
5 | HG00438.hp1 HG01496.hp2 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.684-537A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539062 | |||||||
| chr7:102539118 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
13 | HG00438.hp1 HG00735.hp2 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.683+488T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539118 | |||||||
| chr7:102539136 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.683+470G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539136 | |||||||
| chr7:102539146 | A | C | 13 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.683+460T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539146 | |||||||
| chr7:102539209 | ACACCC | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.683+392_683+396del others(5): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539209 | |||||||
| chr7:102539215 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
20 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(17): Show |
intron_variant | MODIFIER | c.683+391C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539215 | |||||||
| chr7:102539283 | G | C | 2 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
13 | HG00099.hp2 HG00597.hp2 HG01069.hp1 others(10): Show |
intron_variant | MODIFIER | c.683+323C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539283 | |||||||
| chr7:102539299 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.683+307G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539299 | |||||||
| chr7:102539311 | T | C | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.683+295A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539311 | |||||||
| chr7:102539348 | C | G | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.683+258G>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539348 | |||||||
| chr7:102539351 | G | A | 1 | a0001c0001t0001g0002 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.683+255C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539351 | |||||||
| chr7:102539484 | G | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.683+122C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539484 | |||||||
| chr7:102539495 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.683+111C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539495 | |||||||
| chr7:102539509 | C | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.683+97G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539509 | |||||||
| chr7:102539530 | T | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 |
19 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(16): Show |
intron_variant | MODIFIER | c.683+76A>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539530 | |||||||
| chr7:102539562 | G | T | 2 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
10 | HG00408.hp2 HG00544.hp1 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.683+44C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539562 | |||||||
| chr7:102539596 | G | C | 2 | a0001c0001t0001g0005 a0001c0001t0004g0011 |
2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.683+10C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | 102539596 | |||||||
| chr7:102539786 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.563-60T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/5 | chr7 | 102539786 | |||||||
| chr7:102539876 | T | C | 14 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(11): Show |
173 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
intron_variant | MODIFIER | c.562+139A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/5 | chr7 | 102539876 | |||||||
| chr7:102539913 | G | C | 10 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(7): Show |
95 | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.562+102C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/5 | chr7 | 102539913 | |||||||
| chr7:102539979 | TGCCCCTA others(20): Show |
T | 1 | a0001c0001t0001g0001 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.562+9_562+35delCAG others(24): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/5 | chr7 | 102539979 | |||||||
| chr7:102540008 | C | A | 1 | a0001c0001t0001g0009 | 1 | NA19087.hp2 | splice_region_variant&intron_variant | LOW | c.562+7G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4/5 | chr7 | 102540008 | |||||||
| chr7:102540115 | A | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(1): Show |
68 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.486-24T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540115 | |||||||
| chr7:102540193 | G | A | 1 | a0001c0001t0001g0002 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.486-102C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540193 | |||||||
| chr7:102540204 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show |
11 | HG00639.hp1 HG02004.hp2 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.486-113C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540204 | |||||||
| chr7:102540294 | C | A | 1 | a0001c0001t0001g0010 | 2 | HG00544.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.486-203G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540294 | |||||||
| chr7:102540322 | GA | G | 2 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.486-232delT | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540322 | |||||||
| chr7:102540331 | A | G | 9 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
49 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.486-240T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540331 | |||||||
| chr7:102540370 | A | G | 7 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(4): Show |
29 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(26): Show |
intron_variant | MODIFIER | c.486-279T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540370 | |||||||
| chr7:102540399 | C | T | 1 | a0001c0001t0001g0002 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.486-308G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540399 | |||||||
| chr7:102540447 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
6 | HG00544.hp2 HG02109.hp1 NA18951.hp2 others(3): Show |
intron_variant | MODIFIER | c.486-356C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540447 | |||||||
| chr7:102540470 | T | C | 1 | a0001c0001t0001g0002 | 2 | HG02109.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.486-379A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540470 | |||||||
| chr7:102540499 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0004g0011 |
15 | HG00280.hp1 HG01169.hp1 HG01517.hp1 others(12): Show |
intron_variant | MODIFIER | c.486-408A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540499 | |||||||
| chr7:102540546 | CCTTCA | C | 13 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
145 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
intron_variant | MODIFIER | c.486-460_486-456del others(5): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540546 | |||||||
| chr7:102540580 | C | G | 1 | a0001c0001t0001g0016 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.486-489G>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540580 | |||||||
| chr7:102540580 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.486-489G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540580 | |||||||
| chr7:102540615 | A | C | 1 | a0001c0001t0001g0001 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.485+478T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540615 | |||||||
| chr7:102540695 | G | T | 14 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(11): Show |
169 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
intron_variant | MODIFIER | c.485+398C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540695 | |||||||
| chr7:102540736 | C | T | 1 | a0001c0001t0001g0016 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.485+357G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540736 | |||||||
| chr7:102540759 | G | A | 1 | a0001c0001t0001g0002 | 3 | HG02257.hp1 HG03209.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.485+334C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540759 | |||||||
| chr7:102540793 | G | A | 1 | a0001c0001t0001g0001 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.485+300C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540793 | |||||||
| chr7:102540801 | A | C | 1 | a0001c0001t0001g0002 | 2 | HG02109.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.485+292T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540801 | |||||||
| chr7:102540843 | C | CA | 1 | a0001c0001t0001g0001 | 3 | HG01346.hp2 NA19000.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.485+249dupT | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540843 | |||||||
| chr7:102540843 | C | CAAA | 3 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
5 | NA18951.hp2 NA19074.hp1 NA19085.hp2 others(2): Show |
intron_variant | MODIFIER | c.485+247_485+249dup others(3): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540843 | |||||||
| chr7:102540843 | C | CAAAA | 2 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
4 | HG02071.hp2 NA18951.hp1 NA19004.hp2 others(1): Show |
intron_variant | MODIFIER | c.485+246_485+249dup others(4): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540843 | |||||||
| chr7:102540843 | C | CAAAAA | 1 | a0001c0001t0001g0001 | 8 | HG00544.hp1 HG01169.hp2 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.485+245_485+249dup others(5): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540843 | |||||||
| chr7:102540843 | C | CAAAAAAA others(3): Show |
1 | a0001c0001t0001g0001 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.485+249_485+250ins others(10): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540843 | |||||||
| chr7:102540845 | A | AAAAAC | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(1): Show |
4 | HG00544.hp2 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.485+243_485+247dup others(5): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540845 | |||||||
| chr7:102540846 | AAAAC | A | 1 | a0001c0001t0001g0001 | 3 | HG00099.hp2 HG01070.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.485+243_485+246del others(4): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540846 | |||||||
| chr7:102540850 | C | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(1): Show |
31 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.485+243G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540850 | |||||||
| chr7:102540855 | C | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(1): Show |
32 | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.485+238G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAA | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
33 | HG00735.hp1 HG01070.hp2 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.485+236_485+237dup others(2): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAAACAA others(4): Show |
1 | a0001c0001t0001g0002 | 2 | HG00735.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.485+237_485+238ins others(11): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAAACAA others(5): Show |
1 | a0001c0001t0001g0002 | 3 | HG01261.hp2 HG03492.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.485+237_485+238ins others(12): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAAACAA others(6): Show |
4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
9 | HG00099.hp1 HG00639.hp2 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.485+237_485+238ins others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAAACAA others(7): Show |
2 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
10 | HG00280.hp1 HG00639.hp1 HG01517.hp1 others(7): Show |
intron_variant | MODIFIER | c.485+237_485+238ins others(14): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAAACAA others(8): Show |
1 | a0001c0001t0002g0003 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.485+237_485+238ins others(15): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540855 | C | CAAACAAA others(6): Show |
1 | a0001c0001t0002g0012 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.485+237_485+238ins others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540855 | |||||||
| chr7:102540856 | AAAAAAAA others(23): Show |
A | 1 | a0001c0001t0001g0001 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.485+207_485+236del others(30): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540856 | |||||||
| chr7:102540857 | A | AAAAAAAA others(5): Show |
1 | a0001c0001t0001g0002 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.485+235_485+236ins others(12): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540857 | |||||||
| chr7:102540857 | A | AAAC | 5 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show |
30 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(27): Show |
intron_variant | MODIFIER | c.485+235_485+236ins others(3): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540857 | |||||||
| chr7:102540857 | A | AAACAAAA others(6): Show |
1 | a0001c0001t0001g0002 | 4 | HG01346.hp1 HG01952.hp1 NA18968.hp1 others(1): Show |
intron_variant | MODIFIER | c.485+235_485+236ins others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540857 | |||||||
| chr7:102540857 | A | AAACAAAA others(6): Show |
1 | a0001c0001t0001g0005 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.485+235_485+236ins others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540857 | |||||||
| chr7:102540858 | A | AAC | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 |
5 | HG02109.hp2 HG02257.hp2 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.485+234_485+235ins others(2): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540858 | |||||||
| chr7:102540872 | A | G | 1 | a0001c0001t0001g0001 | 2 | HG01069.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.485+221T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540872 | |||||||
| chr7:102540873 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.485+220T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540873 | |||||||
| chr7:102540873 | AAAAGAAG others(21): Show |
A | 2 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
7 | HG01515.hp1 HG02080.hp1 NA18991.hp2 others(4): Show |
intron_variant | MODIFIER | c.485+192_485+219del others(28): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540873 | |||||||
| chr7:102540874 | A | G | 7 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(4): Show |
75 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(72): Show |
intron_variant | MODIFIER | c.485+219T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540874 | |||||||
| chr7:102540874 | AAAGAAGA others(20): Show |
A | 1 | a0001c0001t0001g0014 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.485+192_485+218del others(27): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540874 | |||||||
| chr7:102540874 | AAAGAAGA others(25): Show |
A | 1 | a0001c0001t0001g0001 | 2 | HG01069.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.485+187_485+218del others(32): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540874 | |||||||
| chr7:102540875 | AAGAAGAA others(24): Show |
A | 1 | a0001c0001t0001g0001 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.485+187_485+217del others(31): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540875 | |||||||
| chr7:102540876 | AGAAGAAA others(23): Show |
A | 1 | a0001c0001t0001g0001 | 2 | HG01928.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.485+187_485+216del others(30): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540876 | |||||||
| chr7:102540877 | G | A | 2 | a0001c0001t0001g0002 a0001c0001t0001g0005 |
2 | HG01258.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.485+216C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540877 | |||||||
| chr7:102540879 | AGAAAAGG others(20): Show |
A | 1 | a0001c0001t0001g0001 | 4 | HG00099.hp2 HG01070.hp1 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.485+187_485+213del others(27): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540879 | |||||||
| chr7:102540885 | G | A | 1 | a0001c0001t0001g0002 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.485+208C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540885 | |||||||
| chr7:102540886 | G | GA | 10 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(7): Show |
69 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(66): Show |
intron_variant | MODIFIER | c.485+206dupT | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540886 | |||||||
| chr7:102540887 | A | G | 1 | a0001c0001t0001g0002 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.485+206T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540887 | |||||||
| chr7:102540890 | A | C | 1 | a0001c0001t0001g0001 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.485+203T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540890 | |||||||
| chr7:102540905 | AG | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0003 |
8 | HG01515.hp1 HG02080.hp1 HG03239.hp1 others(5): Show |
intron_variant | MODIFIER | c.485+187delC | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540905 | |||||||
| chr7:102540940 | T | C | 1 | a0001c0001t0001g0001 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.485+153A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102540940 | |||||||
| chr7:102541024 | G | T | 1 | a0001c0001t0001g0002 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.485+69C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102541024 | |||||||
| chr7:102541042 | T | C | 1 | a0001c0001t0001g0002 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.485+51A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102541042 | |||||||
| chr7:102541052 | G | A | 1 | a0001c0001t0001g0001 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.485+41C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | 102541052 | |||||||
| chr7:102541321 | G | C | 1 | a0001c0001t0001g0002 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.275-18C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 2/5 | chr7 | 102541321 | |||||||
| chr7:102541323 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.275-20G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 2/5 | chr7 | 102541323 | |||||||
| chr7:102541687 | A | C | 1 | a0001c0001t0002g0012 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.113-25T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541687 | |||||||
| chr7:102541698 | G | C | 1 | a0001c0001t0001g0001 | 4 | HG01070.hp2 NA19007.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.113-36C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541698 | |||||||
| chr7:102541698 | G | T | 1 | a0001c0001t0001g0001 | 17 | HG00544.hp1 HG01515.hp1 HG01928.hp1 others(14): Show |
intron_variant | MODIFIER | c.113-36C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541698 | |||||||
| chr7:102541884 | C | T | 2 | a0001c0001t0002g0003 a0001c0001t0002g0012 |
6 | HG01884.hp2 HG02080.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.113-222G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541884 | |||||||
| chr7:102541963 | C | A | 1 | a0001c0001t0001g0002 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.113-301G>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541963 | |||||||
| chr7:102541965 | C | T | 2 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
3 | HG00544.hp2 NA19079.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.113-303G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541965 | |||||||
| chr7:102541973 | G | A | 1 | a0001c0001t0001g0001 | 6 | HG00544.hp1 HG01934.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.113-311C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102541973 | |||||||
| chr7:102542124 | AG | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.113-463delC | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542124 | |||||||
| chr7:102542130 | C | G | 2 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
7 | HG01169.hp2 HG02109.hp1 NA18951.hp2 others(4): Show |
intron_variant | MODIFIER | c.113-468G>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542130 | |||||||
| chr7:102542199 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.113-537G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542199 | |||||||
| chr7:102542290 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(3): Show |
61 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(58): Show |
intron_variant | MODIFIER | c.113-628T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542290 | |||||||
| chr7:102542362 | A | G | 1 | a0001c0001t0001g0001 | 11 | HG01515.hp1 HG01928.hp1 HG01943.hp2 others(8): Show |
intron_variant | MODIFIER | c.113-700T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542362 | |||||||
| chr7:102542477 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0012 others(1): Show |
58 | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.113-815A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542477 | |||||||
| chr7:102542511 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0012 others(1): Show |
58 | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.113-849A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542511 | |||||||
| chr7:102542567 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(3): Show |
62 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.113-905G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542567 | |||||||
| chr7:102542568 | G | A | 2 | a0001c0001t0001g0001 a0001c0001t0001g0008 |
3 | HG02004.hp2 HG02523.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.113-906C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542568 | |||||||
| chr7:102542616 | G | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0012 others(1): Show |
58 | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.112+909C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542616 | |||||||
| chr7:102542617 | A | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0012 others(1): Show |
58 | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.112+908T>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542617 | |||||||
| chr7:102542642 | G | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(1): Show |
20 | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(17): Show |
intron_variant | MODIFIER | c.112+883C>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542642 | |||||||
| chr7:102542656 | A | C | 1 | a0001c0001t0001g0001 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.112+869T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542656 | |||||||
| chr7:102542680 | T | C | 9 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
143 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
intron_variant | MODIFIER | c.112+845A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542680 | |||||||
| chr7:102542681 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.112+844C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542681 | |||||||
| chr7:102542694 | G | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0012 others(1): Show |
58 | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.112+831C>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542694 | |||||||
| chr7:102542742 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.112+783C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542742 | |||||||
| chr7:102542930 | G | A | 5 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0003 others(2): Show |
83 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(80): Show |
intron_variant | MODIFIER | c.112+595C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542930 | |||||||
| chr7:102542998 | G | GA | 4 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(1): Show |
10 | HG00099.hp1 HG00438.hp1 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.112+526dupT | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542998 | |||||||
| chr7:102542999 | A | G | 2 | a0001c0001t0001g0008 a0001c0001t0001g0016 |
3 | HG02004.hp2 HG02523.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.112+526T>C | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102542999 | |||||||
| chr7:102543015 | AG | A | 2 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
5 | HG01168.hp2 HG02280.hp1 NA18959.hp1 others(2): Show |
intron_variant | MODIFIER | c.112+509delC | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543015 | |||||||
| chr7:102543016 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(1): Show |
15 | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(12): Show |
intron_variant | MODIFIER | c.112+509C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543016 | |||||||
| chr7:102543058 | G | A | 1 | a0001c0001t0001g0010 | 2 | HG00544.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.112+467C>T | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543058 | |||||||
| chr7:102543141 | T | C | 1 | a0001c0001t0001g0016 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.112+384A>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543141 | |||||||
| chr7:102543259 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.112+266G>A | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543259 | |||||||
| chr7:102543320 | A | C | 1 | a0001c0001t0001g0013 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.112+205T>G | UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/5 | chr7 | 102543320 |