Item | Value |
---|---|
geneid | 392197 |
ensemblid | ENSG00000226430.7 |
hgncid | 37180 |
symbol | USP17L7 |
name | ubiquitin specific peptidase 17 like family member 7 |
refseq_nuc | NM_001256869.2 |
refseq_prot | NP_001243798.1 |
ensembl_nuc | ENST00000530447.5 |
ensembl_prot | ENSP00000485337.2 |
mane_status | MANE Select |
chr | chr8 |
start | 12132417 |
end | 12134099 |
strand | - |
ver | v1.2 |
region | chr8:12132417-12134099 |
region5000 | chr8:12127417-12139099 |
regionname0 | USP17L7_chr8_12132417_12134099 |
regionname5000 | USP17L7_chr8_12127417_12139099 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 530 | 172 | 23 | 32 | 97 | 4 | 15 | 77 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
a0002 | 0/0 | 530 | 13 | 9 | 0 | 2 | 0 | 2 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
a0003 | 0/0 | 530 | 3 | 2 | 0 | 1 | 0 | 0 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
a0004 | 0/0 | 530 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
a0005 | 0/0 | 530 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
a0006 | 0/0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 | |
a0007 | 0/0 | 31 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | MNTGT others(26): Show |
chr8 | 12127417 | 12139099 |
a0008 | 0/1 | 530 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | MEDDS others(525): Show |
chr8 | 12127417 | 12139099 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 1590 | 172 | 23 | 32 | 97 | 4 | 15 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 | ||
a0002c0002 | 0/0 | 1590 | 13 | 9 | 0 | 2 | 0 | 2 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 | ||
a0003c0003 | 0/0 | 1590 | 3 | 2 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 | ||
a0004c0004 | 0/0 | 1590 | 2 | 2 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 | ||
a0005c0007 | 0/0 | 1590 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 | ||
a0006c0000 | 0/0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 | |||
a0007c0006 | 0/0 | 113 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | AACCG others(108): Show |
chr8 | 12127417 | 12139099 | ||
a0008c0008 | 0/1 | 1590 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | ATGGA others(1585): Show |
chr8 | 12127417 | 12139099 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 1683 | 172 | 23 | 32 | 97 | 4 | 15 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
a0002c0002t0001 | 0/0 | 1683 | 13 | 9 | 0 | 2 | 0 | 2 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
a0003c0003t0001 | 0/0 | 1683 | 3 | 2 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
a0004c0004t0001 | 0/0 | 1683 | 2 | 2 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
a0005c0007t0001 | 0/0 | 1683 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
a0006c0000t0000 | 0/0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 | |
a0007c0006t0003 | 0/0 | 116 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | AACCG others(111): Show |
chr8 | 12127417 | 12139099 |
a0008c0008t0001 | 0/1 | 1683 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | GGTCA others(1678): Show |
chr8 | 12127417 | 12139099 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0000 | 1/0 | 172 | 23 | 32 | 97 | 4 | 15 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0002c0002t0001g0000 | 0/0 | 13 | 9 | 0 | 2 | 0 | 2 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0003c0003t0001g0000 | 0/0 | 3 | 2 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0004c0004t0001g0000 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0005c0007t0001g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0006c0000t0000g0000 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0007c0006t0003g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
a0008c0008t0001g0000 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0000 | EUR | GBR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0000 | EUR | GBR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0000 | EUR | IBS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0000 | EUR | IBS | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02080 | hp1 | a0005 | c0007 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02145 | hp2 | a0003 | c0003 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02300 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02523 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02897 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02922 | hp1 | a0002 | c0002 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02965 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02970 | hp1 | a0003 | c0003 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02970 | hp2 | a0004 | c0004 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03041 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03130 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03139 | hp1 | a0002 | c0002 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03209 | hp1 | a0002 | c0002 | t0001 | g0000 | AFR | MSL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03453 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | MSL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03492 | hp1 | a0002 | c0002 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03540 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03540 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | GWD | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03688 | hp1 | a0002 | c0002 | t0001 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | BEB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | BEB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG04115 | hp2 | a0006 | c0000 | t0000 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG04199 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18747 | hp2 | a0002 | c0002 | t0001 | g0000 | EAS | CHB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18940 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18949 | hp1 | a0003 | c0003 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18949 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18966 | hp2 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18970 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18981 | hp2 | a0007 | c0006 | t0003 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA18999 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19006 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19007 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19012 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | LWK | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19030 | hp2 | a0004 | c0004 | t0001 | g0000 | AFR | LWK | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19059 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19059 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19063 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19072 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19076 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19076 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19083 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02109 | hp1 | a0002 | c0002 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | USA | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | USA | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
homoSapiens | chm13v2 | a0008 | c0008 | t0001 | g0000 | REF | REF | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0000 | REF | REF | USP17L7_chr8_12127417_12139099 | USP17L7 | chr8 | 12127417 | 12139099 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12132456 | A | C | 2 | a0004 a0005 |
3 | HG02080.hp1 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1554T>G | p.Asn518Lys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1644/1683 | 1554/1593 | 518/530 | chr8 | 12132456 | |||
chr8:12132477 | G | C | 3 | a0002 a0003 a0004 |
18 | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(15): Show |
missense_variant | MODERATE | c.1533C>G | p.Ser511Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1623/1683 | 1533/1593 | 511/530 | chr8 | 12132477 | |||
chr8:12132529 | G | A | 1 | a0002 | 13 | HG02109.hp1 HG02922.hp1 HG02965.hp2 others(10): Show |
missense_variant | MODERATE | c.1481C>T | p.Pro494Leu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1571/1683 | 1481/1593 | 494/530 | chr8 | 12132529 | |||
chr8:12132530 | G | A | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1480C>T | p.Pro494Ser | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1570/1683 | 1480/1593 | 494/530 | chr8 | 12132530 | |||
chr8:12132531 | T | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1479A>C | p.Lys493Asn | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1569/1683 | 1479/1593 | 493/530 | chr8 | 12132531 | |||
chr8:12132532 | TTCGTCGA others(4744): Show |
T | 1 | a0007 | 1 | NA18981.hp2 | frameshift_variant&start_lost | HIGH | c.-3274_1477del | p.Met1fs | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1567/1683 | 1/1593 | 1/530 | chr8 | 12132532 | |||
chr8:12132535 | G | A | 2 | a0001 a0004 |
7 | HG02145.hp1 HG02258.hp2 HG02615.hp1 others(4): Show |
missense_variant | MODERATE | c.1475C>T | p.Thr492Met | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1565/1683 | 1475/1593 | 492/530 | chr8 | 12132535 | |||
chr8:12132656 | C | T | 1 | a0001 | 1 | HG03017.hp2 | missense_variant | MODERATE | c.1354G>A | p.Val452Ile | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1444/1683 | 1354/1593 | 452/530 | chr8 | 12132656 | |||
chr8:12132673 | G | A | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1337C>T | p.Thr446Met | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1427/1683 | 1337/1593 | 446/530 | chr8 | 12132673 | |||
chr8:12132686 | C | T | 3 | a0001 a0003 a0005 |
155 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(152): Show |
missense_variant | MODERATE | c.1324G>A | p.Glu442Lys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1414/1683 | 1324/1593 | 442/530 | chr8 | 12132686 | |||
chr8:12132722 | G | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1288C>G | p.Gln430Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1378/1683 | 1288/1593 | 430/530 | chr8 | 12132722 | |||
chr8:12132799 | G | A | 2 | a0002 a0003 |
15 | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(12): Show |
missense_variant | MODERATE | c.1211C>T | p.Thr404Met | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1301/1683 | 1211/1593 | 404/530 | chr8 | 12132799 | |||
chr8:12132803 | C | T | 1 | a0001 | 1 | NA18964.hp1 | missense_variant | MODERATE | c.1207G>A | p.Ala403Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1297/1683 | 1207/1593 | 403/530 | chr8 | 12132803 | |||
chr8:12132805 | G | C | 1 | a0001 | 6 | HG00733.hp1 HG02735.hp1 HG02809.hp1 others(3): Show |
missense_variant | MODERATE | c.1205C>G | p.Pro402Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1295/1683 | 1205/1593 | 402/530 | chr8 | 12132805 | |||
chr8:12132848 | C | T | 1 | a0001 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.1162G>A | p.Gly388Ser | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1252/1683 | 1162/1593 | 388/530 | chr8 | 12132848 | |||
chr8:12132938 | C | T | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1072G>A | p.Gly358Ser | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1162/1683 | 1072/1593 | 358/530 | chr8 | 12132938 | |||
chr8:12132940 | G | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1070C>G | p.Ser357Cys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1160/1683 | 1070/1593 | 357/530 | chr8 | 12132940 | |||
chr8:12132943 | G | A | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1067C>T | p.Ala356Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1157/1683 | 1067/1593 | 356/530 | chr8 | 12132943 | |||
chr8:12132989 | C | T | 1 | a0001 | 3 | HG02735.hp2 HG03017.hp1 HG03831.hp1 |
missense_variant | MODERATE | c.1021G>A | p.Ala341Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1111/1683 | 1021/1593 | 341/530 | chr8 | 12132989 | |||
chr8:12133010 | G | A | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1000C>T | p.His334Tyr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1090/1683 | 1000/1593 | 334/530 | chr8 | 12133010 | |||
chr8:12133016 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.994A>G | p.Asn332Asp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1084/1683 | 994/1593 | 332/530 | chr8 | 12133016 | |||
chr8:12133108 | C | A | 3 | a0001 a0004 a0005 |
72 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(69): Show |
missense_variant | MODERATE | c.902G>T | p.Arg301Leu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 992/1683 | 902/1593 | 301/530 | chr8 | 12133108 | |||
chr8:12133115 | T | C | 3 | a0001 a0004 a0005 |
72 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(69): Show |
missense_variant | MODERATE | c.895A>G | p.Lys299Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 985/1683 | 895/1593 | 299/530 | chr8 | 12133115 | |||
chr8:12133151 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.859A>G | p.Thr287Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 949/1683 | 859/1593 | 287/530 | chr8 | 12133151 | |||
chr8:12133187 | C | A | 1 | a0001 | 1 | NA19072.hp1 | missense_variant | MODERATE | c.823G>T | p.Val275Phe | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 913/1683 | 823/1593 | 275/530 | chr8 | 12133187 | |||
chr8:12133201 | G | T | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.809C>A | p.Pro270His | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 899/1683 | 809/1593 | 270/530 | chr8 | 12133201 | |||
chr8:12133215 | C | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.795G>C | p.Lys265Asn | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 885/1683 | 795/1593 | 265/530 | chr8 | 12133215 | |||
chr8:12133231 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.779A>G | p.Lys260Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 869/1683 | 779/1593 | 260/530 | chr8 | 12133231 | |||
chr8:12133280 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.730A>G | p.Lys244Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 820/1683 | 730/1593 | 244/530 | chr8 | 12133280 | |||
chr8:12133373 | C | T | 3 | a0001 a0003 a0004 |
78 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(75): Show |
missense_variant | MODERATE | c.637G>A | p.Val213Ile | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 727/1683 | 637/1593 | 213/530 | chr8 | 12133373 | |||
chr8:12133382 | A | G | 2 | a0002 a0003 |
15 | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(12): Show |
missense_variant | MODERATE | c.628T>C | p.Cys210Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 718/1683 | 628/1593 | 210/530 | chr8 | 12133382 | |||
chr8:12133390 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.620A>G | p.Tyr207Cys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 710/1683 | 620/1593 | 207/530 | chr8 | 12133390 | |||
chr8:12133411 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.599A>G | p.Tyr200Cys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 689/1683 | 599/1593 | 200/530 | chr8 | 12133411 | |||
chr8:12133414 | G | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.596C>G | p.Ala199Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 686/1683 | 596/1593 | 199/530 | chr8 | 12133414 | |||
chr8:12133463 | G | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.547C>G | p.Leu183Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 637/1683 | 547/1593 | 183/530 | chr8 | 12133463 | |||
chr8:12133528 | G | A | 2 | a0002 a0004 |
3 | HG02970.hp2 HG03139.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.482C>T | p.Ala161Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 572/1683 | 482/1593 | 161/530 | chr8 | 12133528 | |||
chr8:12133528 | G | C | 2 | a0001 a0003 |
19 | HG00733.hp2 HG01168.hp1 HG01169.hp2 others(16): Show |
missense_variant | MODERATE | c.482C>G | p.Ala161Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 572/1683 | 482/1593 | 161/530 | chr8 | 12133528 | |||
chr8:12133541 | C | T | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.469G>A | p.Glu157Lys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 559/1683 | 469/1593 | 157/530 | chr8 | 12133541 | |||
chr8:12133546 | C | G | 3 | a0001 a0002 a0003 |
16 | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(13): Show |
missense_variant | MODERATE | c.464G>C | p.Arg155Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 554/1683 | 464/1593 | 155/530 | chr8 | 12133546 | |||
chr8:12133567 | A | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.443T>C | p.Val148Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 533/1683 | 443/1593 | 148/530 | chr8 | 12133567 | |||
chr8:12133570 | T | G | 1 | a0001 | 1 | NA18977.hp1 | missense_variant | MODERATE | c.440A>C | p.Gln147Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 530/1683 | 440/1593 | 147/530 | chr8 | 12133570 | |||
chr8:12133598 | T | G | 4 | a0001 a0002 a0003 others(1): Show |
170 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(167): Show |
missense_variant | MODERATE | c.412A>C | p.Ser138Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 502/1683 | 412/1593 | 138/530 | chr8 | 12133598 | |||
chr8:12133601 | G | A | 4 | a0001 a0002 a0003 others(1): Show |
170 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(167): Show |
missense_variant | MODERATE | c.409C>T | p.His137Tyr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 499/1683 | 409/1593 | 137/530 | chr8 | 12133601 | |||
chr8:12133621 | G | C | 1 | a0001 | 2 | HG02647.hp1 HG03540.hp1 |
missense_variant | MODERATE | c.389C>G | p.Ala130Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 479/1683 | 389/1593 | 130/530 | chr8 | 12133621 | |||
chr8:12133637 | A | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.373T>C | p.Phe125Leu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 463/1683 | 373/1593 | 125/530 | chr8 | 12133637 | |||
chr8:12133651 | T | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.359A>C | p.His120Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 449/1683 | 359/1593 | 120/530 | chr8 | 12133651 | |||
chr8:12133654 | A | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.356T>G | p.Leu119Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 446/1683 | 356/1593 | 119/530 | chr8 | 12133654 | |||
chr8:12133656 | A | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.354T>G | p.His118Gln | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 444/1683 | 354/1593 | 118/530 | chr8 | 12133656 | |||
chr8:12133663 | G | T | 1 | a0001 | 3 | HG02145.hp1 HG02258.hp2 HG02615.hp1 |
missense_variant | MODERATE | c.347C>A | p.Thr116Lys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 437/1683 | 347/1593 | 116/530 | chr8 | 12133663 | |||
chr8:12133673 | C | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.337G>C | p.Asp113His | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 427/1683 | 337/1593 | 113/530 | chr8 | 12133673 | |||
chr8:12133697 | A | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.313T>G | p.Ser105Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 403/1683 | 313/1593 | 105/530 | chr8 | 12133697 | |||
chr8:12133732 | A | G | 2 | a0001 a0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.278T>C | p.Val93Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 368/1683 | 278/1593 | 93/530 | chr8 | 12133732 | |||
chr8:12133738 | A | T | 2 | a0001 a0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.272T>A | p.Val91Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 362/1683 | 272/1593 | 91/530 | chr8 | 12133738 | |||
chr8:12133744 | A | C | 2 | a0001 a0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.266T>G | p.Phe89Cys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 356/1683 | 266/1593 | 89/530 | chr8 | 12133744 | |||
chr8:12133755 | T | C | 2 | a0001 a0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.255A>G | p.Ile85Met | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 345/1683 | 255/1593 | 85/530 | chr8 | 12133755 | |||
chr8:12133758 | C | A | 2 | a0001 a0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.252G>T | p.Lys84Asn | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 342/1683 | 252/1593 | 84/530 | chr8 | 12133758 | |||
chr8:12133819 | G | A | 1 | a0001 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.191C>T | p.Pro64Leu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 281/1683 | 191/1593 | 64/530 | chr8 | 12133819 | |||
chr8:12133843 | G | T | 1 | a0001 | 1 | HG02965.hp1 | missense_variant | MODERATE | c.167C>A | p.Ala56Asp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 257/1683 | 167/1593 | 56/530 | chr8 | 12133843 | |||
chr8:12133865 | A | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.145T>G | p.Phe49Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 235/1683 | 145/1593 | 49/530 | chr8 | 12133865 | |||
chr8:12133898 | A | G | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.112T>C | p.Ser38Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 202/1683 | 112/1593 | 38/530 | chr8 | 12133898 | |||
chr8:12133910 | G | A | 1 | a0001 | 1 | HG02809.hp1 | missense_variant | MODERATE | c.100C>T | p.Arg34Trp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 190/1683 | 100/1593 | 34/530 | chr8 | 12133910 | |||
chr8:12133936 | A | G | 3 | a0002 a0003 a0004 |
17 | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(14): Show |
missense_variant | MODERATE | c.74T>C | p.Leu25Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 164/1683 | 74/1593 | 25/530 | chr8 | 12133936 | |||
chr8:12133940 | G | A | 2 | a0001 a0005 |
69 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(66): Show |
missense_variant | MODERATE | c.70C>T | p.Arg24Trp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 160/1683 | 70/1593 | 24/530 | chr8 | 12133940 | |||
chr8:12133977 | G | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.33C>G | p.Asp11Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 123/1683 | 33/1593 | 11/530 | chr8 | 12133977 | |||
chr8:12134001 | G | T | 1 | a0001 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.9C>A | p.Asp3Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 99/1683 | 9/1593 | 3/530 | chr8 | 12134001 | |||
chr8:12134005 | T | C | 1 | a0004 | 2 | HG02970.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.5A>G | p.Glu2Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 95/1683 | 5/1593 | 2/530 | chr8 | 12134005 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12132576 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.1434T>C | p.His478His | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1524/1683 | 1434/1593 | 478/530 | chr8 | 12132576 | |||
chr8:12132588 | A | C | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.1422T>G | p.Gly474Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1512/1683 | 1422/1593 | 474/530 | chr8 | 12132588 | |||
chr8:12132630 | A | C | 1 | a0001c0001 | 5 | HG02145.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
synonymous_variant | LOW | c.1380T>G | p.Pro460Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1470/1683 | 1380/1593 | 460/530 | chr8 | 12132630 | |||
chr8:12132645 | A | G | 1 | a0001c0001 | 3 | NA18940.hp1 NA18961.hp1 NA18969.hp1 |
synonymous_variant | LOW | c.1365T>C | p.Val455Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1455/1683 | 1365/1593 | 455/530 | chr8 | 12132645 | |||
chr8:12132747 | G | A | 1 | a0001c0001 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.1263C>T | p.Asp421Asp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1353/1683 | 1263/1593 | 421/530 | chr8 | 12132747 | |||
chr8:12132825 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.1185T>C | p.Gly395Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1275/1683 | 1185/1593 | 395/530 | chr8 | 12132825 | |||
chr8:12132843 | C | T | 1 | a0001c0001 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.1167G>A | p.Arg389Arg | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1257/1683 | 1167/1593 | 389/530 | chr8 | 12132843 | |||
chr8:12132930 | G | A | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.1080C>T | p.Thr360Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1170/1683 | 1080/1593 | 360/530 | chr8 | 12132930 | |||
chr8:12133173 | T | G | 2 | a0001c0001 a0004c0004 |
3 | HG02809.hp1 HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.837A>C | p.Val279Val | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 927/1683 | 837/1593 | 279/530 | chr8 | 12133173 | |||
chr8:12133179 | A | G | 2 | a0001c0001 a0004c0004 |
3 | HG02809.hp1 HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.831T>C | p.Ile277Ile | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 921/1683 | 831/1593 | 277/530 | chr8 | 12133179 | |||
chr8:12133224 | A | C | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.786T>G | p.Pro262Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 876/1683 | 786/1593 | 262/530 | chr8 | 12133224 | |||
chr8:12133248 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.762T>C | p.Cys254Cys | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 852/1683 | 762/1593 | 254/530 | chr8 | 12133248 | |||
chr8:12133257 | G | A | 1 | a0001c0001 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.753C>T | p.Ala251Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 843/1683 | 753/1593 | 251/530 | chr8 | 12133257 | |||
chr8:12133362 | G | A | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.648C>T | p.Thr216Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 738/1683 | 648/1593 | 216/530 | chr8 | 12133362 | |||
chr8:12133374 | G | C | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.636C>G | p.Gly212Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 726/1683 | 636/1593 | 212/530 | chr8 | 12133374 | |||
chr8:12133410 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.600T>C | p.Tyr200Tyr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 690/1683 | 600/1593 | 200/530 | chr8 | 12133410 | |||
chr8:12133413 | C | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.597G>C | p.Ala199Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 687/1683 | 597/1593 | 199/530 | chr8 | 12133413 | |||
chr8:12133413 | C | T | 1 | a0001c0001 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.597G>A | p.Ala199Ala | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 687/1683 | 597/1593 | 199/530 | chr8 | 12133413 | |||
chr8:12133449 | G | A | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.561C>T | p.Ser187Ser | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 651/1683 | 561/1593 | 187/530 | chr8 | 12133449 | |||
chr8:12133473 | C | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.537G>C | p.Gly179Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 627/1683 | 537/1593 | 179/530 | chr8 | 12133473 | |||
chr8:12133509 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.501T>C | p.Phe167Phe | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 591/1683 | 501/1593 | 167/530 | chr8 | 12133509 | |||
chr8:12133533 | C | T | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.477G>A | p.Glu159Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 567/1683 | 477/1593 | 159/530 | chr8 | 12133533 | |||
chr8:12133542 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.468T>C | p.Gly156Gly | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 558/1683 | 468/1593 | 156/530 | chr8 | 12133542 | |||
chr8:12133662 | C | T | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.348G>A | p.Thr116Thr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 438/1683 | 348/1593 | 116/530 | chr8 | 12133662 | |||
chr8:12133701 | C | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.309G>C | p.Pro103Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 399/1683 | 309/1593 | 103/530 | chr8 | 12133701 | |||
chr8:12133701 | C | T | 1 | a0001c0001 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.309G>A | p.Pro103Pro | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 399/1683 | 309/1593 | 103/530 | chr8 | 12133701 | |||
chr8:12133740 | A | G | 2 | a0001c0001 a0004c0004 |
3 | HG00408.hp2 HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.270T>C | p.Tyr90Tyr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 360/1683 | 270/1593 | 90/530 | chr8 | 12133740 | |||
chr8:12133824 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.186T>C | p.Leu62Leu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 276/1683 | 186/1593 | 62/530 | chr8 | 12133824 | |||
chr8:12133893 | T | C | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.117A>G | p.Glu39Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 207/1683 | 117/1593 | 39/530 | chr8 | 12133893 | |||
chr8:12133965 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.45T>C | p.Asn15Asn | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 135/1683 | 45/1593 | 15/530 | chr8 | 12133965 | |||
chr8:12133989 | A | G | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.21T>C | p.Tyr7Tyr | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 111/1683 | 21/1593 | 7/530 | chr8 | 12133989 | |||
chr8:12134001 | G | A | 1 | a0003c0003 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.9C>T | p.Asp3Asp | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 99/1683 | 9/1593 | 3/530 | chr8 | 12134001 | |||
chr8:12134004 | T | C | 1 | a0004c0004 | 2 | HG02970.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.6A>G | p.Glu2Glu | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 96/1683 | 6/1593 | 2/530 | chr8 | 12134004 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12134027 | T | C | 1 | a0001c0001t0001 | 5 | HG02145.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-18A>G | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 18 | chr8 | 12134027 | ||||||
chr8:12134097 | A | G | 1 | a0001c0001t0001 | 1 | NA19079.hp2 | 5_prime_UTR_variant | MODIFIER | c.-88T>C | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 88 | chr8 | 12134097 | ||||||
chr8:12134099 | C | G | 2 | a0001c0001t0001 a0004c0004t0001 |
5 | HG02970.hp2 NA18940.hp1 NA18961.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-90G>C | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 90 | chr8 | 12134099 |
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 |
---|