Item | Value |
---|---|
geneid | 198437 |
ensemblid | ENSG00000171695.11 |
hgncid | 33718 |
symbol | LKAAEAR1 |
name | LKAAEAR motif containing 1 |
refseq_nuc | NM_001353425.2 |
refseq_prot | NP_001340354.1 |
ensembl_nuc | ENST00000302096.5 |
ensembl_prot | ENSP00000302763.4 |
mane_status | MANE Select |
chr | chr20 |
start | 64083376 |
end | 64084398 |
strand | - |
ver | v1.2 |
region | chr20:64083376-64084398 |
region5000 | chr20:64078376-64089398 |
regionname0 | LKAAEAR1_chr20_64083376_64084398 |
regionname5000 | LKAAEAR1_chr20_64078376_64089398 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 194 | 80 | 13 | 17 | 22 | 0 | 26 | 17 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | MPPPA others(189): Show |
chr20 | 64078376 | 64089398 |
a0002 | 0/0 | 194 | 20 | 6 | 1 | 10 | 0 | 3 | 9 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | MPPPA others(189): Show |
chr20 | 64078376 | 64089398 |
a0003 | 0/0 | 194 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | MPPPA others(189): Show |
chr20 | 64078376 | 64089398 |
a0004 | 0/0 | 194 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | MPPPA others(189): Show |
chr20 | 64078376 | 64089398 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 582 | 79 | 12 | 17 | 22 | 0 | 26 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | ATGCC others(577): Show |
chr20 | 64078376 | 64089398 | ||
a0001c0003 | 0/0 | 582 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | ATGCC others(577): Show |
chr20 | 64078376 | 64089398 | ||
a0002c0002 | 0/0 | 582 | 20 | 6 | 1 | 10 | 0 | 3 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | ATGCC others(577): Show |
chr20 | 64078376 | 64089398 | ||
a0003c0004 | 0/0 | 582 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | ATGCC others(577): Show |
chr20 | 64078376 | 64089398 | ||
a0004c0005 | 0/0 | 582 | 1 | 0 | 0 | 0 | 0 | 1 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | ATGCC others(577): Show |
chr20 | 64078376 | 64089398 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 823 | 58 | 8 | 12 | 16 | 0 | 20 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0001c0001t0002 | 0/0 | 823 | 21 | 4 | 5 | 6 | 0 | 6 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0001c0003t0001 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0002c0002t0002 | 0/0 | 823 | 18 | 4 | 1 | 10 | 0 | 3 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0002c0002t0003 | 0/0 | 823 | 2 | 2 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0003c0004t0002 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
a0004c0005t0001 | 0/0 | 823 | 1 | 0 | 0 | 0 | 0 | 1 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | GGAGA others(818): Show |
chr20 | 64078376 | 64089398 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/1 | 56 | 6 | 12 | 16 | 0 | 20 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0001c0001t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0001c0001t0002g0002 | 0/0 | 21 | 4 | 5 | 6 | 0 | 6 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0001c0003t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0002c0002t0002g0003 | 0/0 | 18 | 4 | 1 | 10 | 0 | 3 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0002c0002t0003g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0003c0004t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
a0004c0005t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00741 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01074 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01167 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01169 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01192 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01433 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01496 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01884 | hp1 | a0002 | c0002 | t0003 | g0004 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02071 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02071 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | KHV | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02074 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02145 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02145 | hp2 | a0002 | c0002 | t0002 | g0003 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02165 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CDX | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02165 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | CDX | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02622 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02698 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02698 | hp2 | a0002 | c0002 | t0002 | g0003 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02738 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02886 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02886 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02970 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | ESN | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02970 | hp2 | a0003 | c0004 | t0002 | g0007 | AFR | ESN | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03453 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03453 | hp2 | a0002 | c0002 | t0003 | g0004 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03579 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03579 | hp2 | a0001 | c0003 | t0001 | g0006 | AFR | MSL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03669 | hp2 | a0002 | c0002 | t0002 | g0003 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03704 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03834 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03942 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04184 | hp1 | a0004 | c0005 | t0001 | g0008 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04199 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04199 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG04228 | hp2 | a0002 | c0002 | t0002 | g0003 | SAS | STU | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18940 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18942 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18967 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18967 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18981 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18981 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA18999 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19002 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19007 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19011 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19060 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19064 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0001 | REF | REF | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | LKAAEAR1_chr20_64078376_64089398 | LKAAEAR1 | chr20 | 64078376 | 64089398 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:64083629 | G | A | 1 | a0004 | 1 | HG04184.hp1 | missense_variant | MODERATE | c.479C>T | p.Pro160Leu | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 2/3 | 658/823 | 479/585 | 160/194 | chr20 | 64083629 | |||
chr20:64083852 | A | T | 1 | a0003 | 1 | HG02970.hp2 | missense_variant | MODERATE | c.368T>A | p.Val123Asp | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/3 | 547/823 | 368/585 | 123/194 | chr20 | 64083852 | |||
chr20:64084195 | C | A | 1 | a0002 | 20 | HG01192.hp1 HG01884.hp1 HG02071.hp2 others(17): Show |
missense_variant | MODERATE | c.25G>T | p.Gly9Trp | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/3 | 204/823 | 25/585 | 9/194 | chr20 | 64084195 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:64084043 | G | T | 1 | a0001c0003 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.177C>A | p.Arg59Arg | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/3 | 356/823 | 177/585 | 59/194 | chr20 | 64084043 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:64083430 | C | G | 4 | a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 others(1): Show |
42 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*5G>C | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 3/3 | 5 | chr20 | 64083430 | ||||||
chr20:64084299 | C | T | 1 | a0002c0002t0003 | 2 | HG01884.hp1 HG03453.hp2 |
5_prime_UTR_variant | MODIFIER | c.-80G>A | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/3 | 80 | chr20 | 64084299 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:64083728 | C | A | 1 | a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.403-23G>T | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/2 | chr20 | 64083728 | |||||||
chr20:64083736 | G | A | 1 | a0002c0002t0002g0003 | 18 | HG01192.hp1 HG02071.hp2 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.403-31C>T | LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 1/2 | chr20 | 64083736 |