Item | Value |
---|---|
geneid | 728712 |
ensemblid | ENSG00000203926.5 |
hgncid | 14328 |
symbol | SPANXA2 |
name | SPANX family member A2 |
refseq_nuc | NM_145662.4 |
refseq_prot | NP_663695.1 |
ensembl_nuc | ENST00000370518.4 |
ensembl_prot | ENSP00000359549.3 |
mane_status | MANE Select |
chr | chrX |
start | 141589708 |
end | 141590762 |
strand | + |
ver | v1.2 |
region | chrX:141589708-141590762 |
region5000 | chrX:141584708-141595762 |
regionname0 | SPANXA2_chrX_141589708_141590762 |
regionname5000 | SPANXA2_chrX_141584708_141595762 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 97 | 183 | 42 | 22 | 104 | 2 | 13 | 90 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | MDKQS others(92): Show |
chrX | 141584708 | 141595762 |
a0002 | 0/0 | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 291 | 183 | 42 | 22 | 104 | 2 | 13 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | ATGGA others(286): Show |
chrX | 141584708 | 141595762 | ||
a0002c0000 | 0/0 | 0 | 2 | 0 | 0 | 2 | 0 | 0 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 408 | 183 | 42 | 22 | 104 | 2 | 13 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | ACTGA others(403): Show |
chrX | 141584708 | 141595762 |
a0002c0000t0000 | 0/0 | 0 | 2 | 0 | 0 | 2 | 0 | 0 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 183 | 42 | 22 | 104 | 2 | 13 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
a0002c0000t0000g0000 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00408 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01346 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01358 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01891 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02896 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03209 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG04184 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18946 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18957 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18968 | hp1 | a0002 | c0000 | t0000 | g0000 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18989 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18991 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18991 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18998 | hp2 | a0002 | c0000 | t0000 | g0000 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19057 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19065 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19067 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19075 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02109 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
NA21309 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPANXA2_chrX_141584708_141595762 | SPANXA2 | chrX | 141584708 | 141595762 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:141589772 | A | G | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.5A>G | p.Asp2Gly | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 65/408 | 5/294 | 2/97 | chrX | 141589772 | |||
chrX:141589774 | A | C | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.7A>C | p.Lys3Gln | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 67/408 | 7/294 | 3/97 | chrX | 141589774 | |||
chrX:141589787 | C | T | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.20C>T | p.Ala7Val | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 80/408 | 20/294 | 7/97 | chrX | 141589787 | |||
chrX:141589789 | G | C | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.22G>C | p.Gly8Arg | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 82/408 | 22/294 | 8/97 | chrX | 141589789 | |||
chrX:141589792 | G | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.25G>A | p.Gly9Arg | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 85/408 | 25/294 | 9/97 | chrX | 141589792 | |||
chrX:141589792 | G | C | 1 | a0001 | 1 | NA18965.hp1 | missense_variant | MODERATE | c.25G>C | p.Gly9Arg | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 85/408 | 25/294 | 9/97 | chrX | 141589792 | |||
chrX:141589795 | G | C | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.28G>C | p.Val10Leu | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 88/408 | 28/294 | 10/97 | chrX | 141589795 | |||
chrX:141589818 | T | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.51T>A | p.Asp17Glu | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 111/408 | 51/294 | 17/97 | chrX | 141589818 | |||
chrX:141589829 | C | T | 1 | a0001 | 1 | HG02451.hp1 | missense_variant | MODERATE | c.62C>T | p.Ala21Val | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 122/408 | 62/294 | 21/97 | chrX | 141589829 | |||
chrX:141589834 | G | GAGGCCAA others(11): Show |
1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
conservative_inframe_insertion&splice_region_variant | MODERATE | c.69_70insGCCAATGAGG others(8): Show |
p.Glu23_Met24insAlaA others(14): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 130/408 | 70/294 | 24/97 | INFO_REALIGN_3_PRIME | chrX | 141589834 | ||
chrX:141589838 | T | C | 1 | a0001 | 5 | HG02451.hp1 HG02615.hp2 HG02818.hp1 others(2): Show |
missense_variant&splice_region_variant | MODERATE | c.71T>C | p.Met24Thr | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 131/408 | 71/294 | 24/97 | chrX | 141589838 | |||
chrX:141590499 | C | T | 1 | a0001 | 28 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(25): Show |
missense_variant | MODERATE | c.85C>T | p.Pro29Ser | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 145/408 | 85/294 | 29/97 | chrX | 141590499 | |||
chrX:141590503 | C | G | 1 | a0001 | 28 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(25): Show |
missense_variant | MODERATE | c.89C>G | p.Thr30Ser | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 149/408 | 89/294 | 30/97 | chrX | 141590503 | |||
chrX:141590508 | G | T | 1 | a0001 | 28 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(25): Show |
missense_variant | MODERATE | c.94G>T | p.Asp32Tyr | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 154/408 | 94/294 | 32/97 | chrX | 141590508 | |||
chrX:141590538 | A | C | 1 | a0001 | 29 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(26): Show |
missense_variant | MODERATE | c.124A>C | p.Met42Leu | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 184/408 | 124/294 | 42/97 | chrX | 141590538 | |||
chrX:141590540 | G | A | 1 | a0001 | 29 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(26): Show |
missense_variant | MODERATE | c.126G>A | p.Met42Ile | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 186/408 | 126/294 | 42/97 | chrX | 141590540 | |||
chrX:141590589 | T | G | 1 | a0001 | 35 | HG00733.hp2 HG01168.hp1 HG02109.hp2 others(32): Show |
missense_variant | MODERATE | c.175T>G | p.Phe59Val | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 235/408 | 175/294 | 59/97 | chrX | 141590589 | |||
chrX:141590591 | T | G | 1 | a0001 | 35 | HG00733.hp2 HG01168.hp1 HG02109.hp2 others(32): Show |
missense_variant | MODERATE | c.177T>G | p.Phe59Leu | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 237/408 | 177/294 | 59/97 | chrX | 141590591 | |||
chrX:141590616 | C | G | 1 | a0001 | 6 | HG02280.hp1 HG02615.hp2 HG02698.hp1 others(3): Show |
missense_variant | MODERATE | c.202C>G | p.Leu68Val | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 262/408 | 202/294 | 68/97 | chrX | 141590616 | |||
chrX:141590631 | C | T | 1 | a0001 | 1 | HG02886.hp2 | stop_gained | HIGH | c.217C>T | p.Arg73* | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 277/408 | 217/294 | 73/97 | chrX | 141590631 | |||
chrX:141590634 | G | A | 1 | a0001 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.220G>A | p.Glu74Lys | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 280/408 | 220/294 | 74/97 | chrX | 141590634 | |||
chrX:141590652 | C | G | 1 | a0001 | 5 | HG02615.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
missense_variant | MODERATE | c.238C>G | p.Leu80Val | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 298/408 | 238/294 | 80/97 | chrX | 141590652 | |||
chrX:141590653 | T | A | 1 | a0001 | 5 | HG02615.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
missense_variant | MODERATE | c.239T>A | p.Leu80His | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 299/408 | 239/294 | 80/97 | chrX | 141590653 | |||
chrX:141590678 | G | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.264G>A | p.Met88Ile | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 324/408 | 264/294 | 88/97 | chrX | 141590678 | |||
chrX:141590686 | T | C | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.272T>C | p.Met91Thr | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 332/408 | 272/294 | 91/97 | chrX | 141590686 | |||
chrX:141590688 | G | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.274G>A | p.Val92Ile | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 334/408 | 274/294 | 92/97 | chrX | 141590688 | |||
chrX:141590689 | T | C | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.275T>C | p.Val92Ala | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 335/408 | 275/294 | 92/97 | chrX | 141590689 | |||
chrX:141590695 | T | G | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.281T>G | p.Ile94Arg | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 341/408 | 281/294 | 94/97 | chrX | 141590695 | |||
chrX:141590700 | G | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.286G>A | p.Ala96Thr | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 346/408 | 286/294 | 96/97 | chrX | 141590700 | |||
chrX:141590701 | C | A | 1 | a0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.287C>A | p.Ala96Glu | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 347/408 | 287/294 | 96/97 | chrX | 141590701 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:141589830 | C | G | 1 | a0001c0001 | 1 | HG02451.hp1 | synonymous_variant | LOW | c.63C>G | p.Ala21Ala | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 123/408 | 63/294 | 21/97 | chrX | 141589830 | |||
chrX:141589833 | C | T | 1 | a0001c0001 | 1 | HG02451.hp1 | synonymous_variant | LOW | c.66C>T | p.Asn22Asn | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 126/408 | 66/294 | 22/97 | chrX | 141589833 | |||
chrX:141590501 | A | G | 1 | a0001c0001 | 28 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(25): Show |
synonymous_variant | LOW | c.87A>G | p.Pro29Pro | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 147/408 | 87/294 | 29/97 | chrX | 141590501 | |||
chrX:141590531 | T | G | 1 | a0001c0001 | 28 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(25): Show |
synonymous_variant | LOW | c.117T>G | p.Pro39Pro | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 177/408 | 117/294 | 39/97 | chrX | 141590531 | |||
chrX:141590558 | G | C | 1 | a0001c0001 | 1 | HG02818.hp2 | synonymous_variant | LOW | c.144G>C | p.Ser48Ser | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 204/408 | 144/294 | 48/97 | chrX | 141590558 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:141589712 | A | C | 1 | a0001c0001t0001 | 8 | HG01891.hp2 HG02451.hp1 HG02615.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-56A>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 56 | chrX | 141589712 | ||||||
chrX:141589725 | C | G | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-43C>G | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 43 | chrX | 141589725 | ||||||
chrX:141589728 | A | C | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-40A>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 40 | chrX | 141589728 | ||||||
chrX:141589734 | G | A | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-34G>A | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 34 | chrX | 141589734 | ||||||
chrX:141589738 | G | A | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-30G>A | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 30 | chrX | 141589738 | ||||||
chrX:141589740 | C | T | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-28C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 28 | chrX | 141589740 | ||||||
chrX:141589741 | A | G | 1 | a0001c0001t0001 | 30 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(27): Show |
5_prime_UTR_variant | MODIFIER | c.-27A>G | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 27 | chrX | 141589741 | ||||||
chrX:141589742 | C | T | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-26C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | chrX | 141589742 | |||||||
chrX:141589743 | T | A | 1 | a0001c0001t0001 | 7 | HG01891.hp2 HG02451.hp1 HG02615.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-25T>A | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 25 | chrX | 141589743 | ||||||
chrX:141589749 | T | C | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-19T>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 19 | chrX | 141589749 | ||||||
chrX:141590723 | T | C | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*15T>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 15 | chrX | 141590723 | ||||||
chrX:141590729 | C | A | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*21C>A | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 21 | chrX | 141590729 | ||||||
chrX:141590733 | G | C | 1 | a0001c0001t0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*25G>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 25 | chrX | 141590733 | ||||||
chrX:141590742 | A | C | 1 | a0001c0001t0001 | 2 | HG02280.hp1 HG03209.hp1 |
3_prime_UTR_variant | MODIFIER | c.*34A>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 34 | chrX | 141590742 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:141589846 | C | T | 1 | a0001c0001t0001g0001 | 5 | HG02451.hp1 HG02615.hp2 HG02818.hp1 others(2): Show |
splice_region_variant&intron_variant | LOW | c.72+7C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141589846 | |||||||
chrX:141589856 | C | T | 1 | a0001c0001t0001g0001 | 4 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+17C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141589856 | |||||||
chrX:141589900 | C | T | 1 | a0001c0001t0001g0001 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.72+61C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141589900 | |||||||
chrX:141589984 | G | A | 1 | a0001c0001t0001g0001 | 8 | HG02109.hp1 HG02451.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.72+145G>A | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141589984 | |||||||
chrX:141589985 | G | C | 1 | a0001c0001t0001g0001 | 8 | HG02109.hp1 HG02451.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.72+146G>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141589985 | |||||||
chrX:141590044 | A | G | 1 | a0001c0001t0001g0001 | 4 | HG01891.hp2 HG02451.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+205A>G | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590044 | |||||||
chrX:141590083 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.72+244C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590083 | |||||||
chrX:141590304 | C | G | 1 | a0001c0001t0001g0001 | 2 | HG02258.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.73-183C>G | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590304 | |||||||
chrX:141590373 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.73-114C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590373 | |||||||
chrX:141590391 | C | T | 1 | a0001c0001t0001g0001 | 5 | HG01346.hp2 HG02145.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.73-96C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590391 | |||||||
chrX:141590413 | T | C | 1 | a0001c0001t0001g0001 | 14 | HG01175.hp2 HG01346.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.73-74T>C | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590413 | |||||||
chrX:141590475 | C | T | 1 | a0001c0001t0001g0001 | 38 | HG00408.hp2 HG00733.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.73-12C>T | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/1 | chrX | 141590475 |