Item | Value |
---|---|
geneid | 30014 |
ensemblid | ENSG00000198021.8 |
hgncid | 11218 |
symbol | SPANXA1 |
name | sperm protein associated with the nucleus, X-linked, family member A1 |
refseq_nuc | NM_013453.3 |
refseq_prot | NP_038481.2 |
ensembl_nuc | ENST00000370519.4 |
ensembl_prot | ENSP00000359550.3 |
mane_status | MANE Select |
chr | chrX |
start | 141583674 |
end | 141584738 |
strand | - |
ver | v1.2 |
region | chrX:141583674-141584738 |
region5000 | chrX:141578674-141589738 |
regionname0 | SPANXA1_chrX_141583674_141584738 |
regionname5000 | SPANXA1_chrX_141578674_141589738 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 97 | 102 | 18 | 18 | 58 | 0 | 8 | 50 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0002 | 0/0 | 97 | 26 | 12 | 3 | 9 | 0 | 2 | 5 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0003 | 0/0 | 97 | 22 | 7 | 1 | 12 | 0 | 2 | 11 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0004 | 0/0 | 97 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0005 | 0/0 | 97 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0006 | 0/0 | 97 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0007 | 0/0 | 97 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0008 | 0/0 | 97 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
a0009 | 0/0 | 97 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | MDKQS others(92): Show |
chrX | 141578674 | 141589738 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 291 | 101 | 18 | 18 | 57 | 0 | 8 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0001c0010 | 0/0 | 291 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0002c0002 | 0/0 | 291 | 26 | 12 | 3 | 9 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0003c0003 | 0/0 | 291 | 22 | 7 | 1 | 12 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0004c0004 | 0/0 | 291 | 2 | 2 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0005c0007 | 0/0 | 291 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0006c0008 | 0/0 | 291 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0007c0006 | 0/0 | 291 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0008c0009 | 0/0 | 291 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 | ||
a0009c0005 | 0/0 | 291 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ATGGA others(286): Show |
chrX | 141578674 | 141589738 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 418 | 91 | 13 | 17 | 53 | 0 | 8 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0001c0001t0002 | 0/0 | 418 | 6 | 1 | 1 | 4 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGC others(413): Show |
chrX | 141578674 | 141589738 |
a0001c0001t0004 | 0/0 | 418 | 4 | 4 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGC others(413): Show |
chrX | 141578674 | 141589738 |
a0001c0010t0001 | 0/0 | 418 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0002c0002t0001 | 0/0 | 418 | 20 | 7 | 3 | 8 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0002c0002t0003 | 0/0 | 418 | 6 | 5 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0003c0003t0001 | 0/0 | 418 | 18 | 3 | 1 | 12 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0003c0003t0002 | 0/0 | 418 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGC others(413): Show |
chrX | 141578674 | 141589738 |
a0003c0003t0005 | 0/0 | 418 | 3 | 3 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0004c0004t0001 | 0/0 | 418 | 2 | 2 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0005c0007t0004 | 0/0 | 418 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGC others(413): Show |
chrX | 141578674 | 141589738 |
a0006c0008t0001 | 0/0 | 418 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0007c0006t0004 | 0/0 | 418 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGC others(413): Show |
chrX | 141578674 | 141589738 |
a0008c0009t0001 | 0/0 | 418 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
a0009c0005t0001 | 0/0 | 418 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | ACTGA others(413): Show |
chrX | 141578674 | 141589738 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 83 | 11 | 17 | 47 | 0 | 8 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0001g0006 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0002g0005 | 0/0 | 5 | 1 | 0 | 4 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0002g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0004g0009 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0001t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0001c0010t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0002c0002t0001g0002 | 0/0 | 19 | 6 | 3 | 8 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0002c0002t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0002c0002t0003g0004 | 0/0 | 5 | 4 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0002c0002t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0003c0003t0001g0003 | 0/0 | 15 | 0 | 1 | 12 | 0 | 2 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0003c0003t0001g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0003c0003t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0003c0003t0005g0008 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0004c0004t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0005c0007t0004g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0006c0008t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0007c0006t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0008c0009t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
a0009c0005t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00423 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00423 | hp2 | a0001 | c0001 | t0002 | g0005 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00544 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00544 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00558 | hp2 | a0001 | c0001 | t0002 | g0005 | EAS | CHS | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00733 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01106 | hp1 | a0001 | c0001 | t0002 | g0024 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01358 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | CLM | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01891 | hp1 | a0002 | c0002 | t0003 | g0004 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01891 | hp2 | a0001 | c0001 | t0004 | g0009 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01975 | hp2 | a0003 | c0003 | t0001 | g0003 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG01981 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02055 | hp1 | a0003 | c0003 | t0001 | g0007 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02056 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02071 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | KHV | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02145 | hp1 | a0004 | c0004 | t0001 | g0010 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02258 | hp1 | a0002 | c0002 | t0001 | g0017 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02280 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02451 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02451 | hp2 | a0003 | c0003 | t0001 | g0007 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02572 | hp1 | a0001 | c0001 | t0002 | g0005 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02602 | hp1 | a0003 | c0003 | t0001 | g0003 | SAS | PJL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02615 | hp2 | a0003 | c0003 | t0005 | g0008 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02647 | hp1 | a0002 | c0002 | t0003 | g0019 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02738 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | PJL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02886 | hp1 | a0002 | c0002 | t0003 | g0004 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02970 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02976 | hp1 | a0002 | c0002 | t0003 | g0004 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02976 | hp2 | a0001 | c0001 | t0004 | g0009 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03041 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03041 | hp2 | a0005 | c0007 | t0004 | g0021 | AFR | GWD | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03098 | hp1 | a0002 | c0002 | t0003 | g0004 | AFR | MSL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03130 | hp1 | a0004 | c0004 | t0001 | g0010 | AFR | ESN | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03209 | hp1 | a0003 | c0003 | t0005 | g0008 | AFR | MSL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03927 | hp2 | a0002 | c0002 | t0001 | g0002 | SAS | BEB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG03942 | hp1 | a0003 | c0003 | t0001 | g0003 | SAS | BEB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18906 | hp1 | a0001 | c0001 | t0004 | g0022 | AFR | YRI | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18906 | hp2 | a0003 | c0003 | t0001 | g0007 | AFR | YRI | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18956 | hp2 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18957 | hp1 | a0001 | c0001 | t0002 | g0005 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18960 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18961 | hp1 | a0006 | c0008 | t0001 | g0014 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18965 | hp1 | a0001 | c0010 | t0001 | g0018 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18966 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18973 | hp2 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18991 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18991 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18993 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18994 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19001 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19001 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19010 | hp1 | a0001 | c0001 | t0002 | g0005 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19010 | hp2 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19011 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19011 | hp2 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19012 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19030 | hp1 | a0007 | c0006 | t0004 | g0020 | AFR | LWK | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19030 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | LWK | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19065 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19066 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19067 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19075 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19079 | hp1 | a0002 | c0002 | t0003 | g0004 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19081 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19083 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19088 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19240 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | YRI | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA19240 | hp2 | a0008 | c0009 | t0001 | g0015 | AFR | YRI | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02109 | hp1 | a0003 | c0003 | t0002 | g0023 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02109 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA20300 | hp1 | a0003 | c0003 | t0005 | g0008 | AFR | USA | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
NA20300 | hp2 | a0009 | c0005 | t0001 | g0012 | AFR | USA | SPANXA1_chrX_141578674_141589738 | SPANXA1 | chrX | 141578674 | 141589738 |
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:141583793 | A | T | 2 | a0004 a0006 |
3 | HG02145.hp1 HG03130.hp1 NA18961.hp1 |
missense_variant | MODERATE | c.239T>A | p.Leu80His | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 299/418 | 239/294 | 80/97 | chrX | 141583793 | |||
chrX:141583794 | G | C | 2 | a0004 a0006 |
3 | HG02145.hp1 HG03130.hp1 NA18961.hp1 |
missense_variant | MODERATE | c.238C>G | p.Leu80Val | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 298/418 | 238/294 | 80/97 | chrX | 141583794 | |||
chrX:141583830 | G | C | 2 | a0006 a0008 |
2 | NA18961.hp1 NA19240.hp2 |
missense_variant | MODERATE | c.202C>G | p.Leu68Val | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 262/418 | 202/294 | 68/97 | chrX | 141583830 | |||
chrX:141583855 | A | C | 2 | a0003 a0007 |
23 | HG00423.hp1 HG01975.hp2 HG02055.hp1 others(20): Show |
missense_variant | MODERATE | c.177T>G | p.Phe59Leu | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 237/418 | 177/294 | 59/97 | chrX | 141583855 | |||
chrX:141583857 | A | C | 2 | a0003 a0007 |
23 | HG00423.hp1 HG01975.hp2 HG02055.hp1 others(20): Show |
missense_variant | MODERATE | c.175T>G | p.Phe59Val | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 235/418 | 175/294 | 59/97 | chrX | 141583857 | |||
chrX:141583906 | C | T | 2 | a0002 a0008 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
missense_variant | MODERATE | c.126G>A | p.Met42Ile | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 186/418 | 126/294 | 42/97 | chrX | 141583906 | |||
chrX:141583908 | T | G | 2 | a0002 a0008 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
missense_variant | MODERATE | c.124A>C | p.Met42Leu | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 184/418 | 124/294 | 42/97 | chrX | 141583908 | |||
chrX:141583938 | C | A | 2 | a0002 a0008 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
missense_variant | MODERATE | c.94G>T | p.Asp32Tyr | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 154/418 | 94/294 | 32/97 | chrX | 141583938 | |||
chrX:141583943 | G | C | 2 | a0002 a0008 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
missense_variant | MODERATE | c.89C>G | p.Thr30Ser | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 149/418 | 89/294 | 30/97 | chrX | 141583943 | |||
chrX:141583947 | G | A | 2 | a0002 a0008 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
missense_variant | MODERATE | c.85C>T | p.Pro29Ser | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 145/418 | 85/294 | 29/97 | chrX | 141583947 | |||
chrX:141584608 | A | G | 2 | a0005 a0007 |
2 | HG03041.hp2 NA19030.hp1 |
missense_variant&splice_region_variant | MODERATE | c.71T>C | p.Met24Thr | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 131/418 | 71/294 | 24/97 | chrX | 141584608 | |||
chrX:141584617 | G | A | 2 | a0005 a0007 |
2 | HG03041.hp2 NA19030.hp1 |
missense_variant | MODERATE | c.62C>T | p.Ala21Val | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 122/418 | 62/294 | 21/97 | chrX | 141584617 | |||
chrX:141584628 | A | T | 3 | a0005 a0007 a0009 |
3 | HG03041.hp2 NA19030.hp1 NA20300.hp2 |
missense_variant | MODERATE | c.51T>A | p.Asp17Glu | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 111/418 | 51/294 | 17/97 | chrX | 141584628 |
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:141583915 | A | C | 2 | a0002c0002 a0008c0009 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
synonymous_variant | LOW | c.117T>G | p.Pro39Pro | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 177/418 | 117/294 | 39/97 | chrX | 141583915 | |||
chrX:141583945 | T | C | 2 | a0002c0002 a0008c0009 |
27 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(24): Show |
synonymous_variant | LOW | c.87A>G | p.Pro29Pro | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 147/418 | 87/294 | 29/97 | chrX | 141583945 | |||
chrX:141584613 | G | A | 3 | a0001c0010 a0005c0007 a0007c0006 |
3 | HG03041.hp2 NA18965.hp1 NA19030.hp1 |
synonymous_variant | LOW | c.66C>T | p.Asn22Asn | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 126/418 | 66/294 | 22/97 | chrX | 141584613 | |||
chrX:141584616 | G | C | 2 | a0005c0007 a0007c0006 |
2 | HG03041.hp2 NA19030.hp1 |
synonymous_variant | LOW | c.63C>G | p.Ala21Ala | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 123/418 | 63/294 | 21/97 | chrX | 141584616 |
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:141583727 | G | A | 1 | a0003c0003t0005 | 3 | HG02615.hp2 HG03209.hp1 NA20300.hp1 |
3_prime_UTR_variant | MODIFIER | c.*11C>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 2/2 | 11 | chrX | 141583727 | ||||||
chrX:141584703 | A | T | 3 | a0001c0001t0004 a0005c0007t0004 a0007c0006t0004 |
6 | HG01891.hp2 HG02451.hp1 HG02976.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-25T>A | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 25 | chrX | 141584703 | ||||||
chrX:141584705 | T | C | 6 | a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 others(3): Show |
19 | HG00423.hp2 HG00558.hp2 HG01106.hp1 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-27A>G | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 27 | chrX | 141584705 | ||||||
chrX:141584734 | T | G | 5 | a0001c0001t0002 a0001c0001t0004 a0003c0003t0002 others(2): Show |
13 | HG00423.hp2 HG00558.hp2 HG01106.hp1 others(10): Show |
5_prime_UTR_variant | MODIFIER | c.-56A>C | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/2 | 56 | chrX | 141584734 |
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:141583971 | G | A | 6 | a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0003g0004 others(3): Show |
30 | HG00544.hp1 HG00544.hp2 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-12C>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141583971 | |||||||
chrX:141584033 | A | G | 7 | a0001c0001t0001g0013 a0001c0001t0004g0009 a0001c0001t0004g0022 others(4): Show |
12 | HG01891.hp2 HG02055.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.73-74T>C | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584033 | |||||||
chrX:141584059 | T | A | 1 | a0001c0001t0001g0016 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.73-100A>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584059 | |||||||
chrX:141584142 | G | C | 1 | a0002c0002t0001g0017 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.73-183C>G | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584142 | |||||||
chrX:141584313 | G | T | 1 | a0001c0001t0001g0006 | 4 | NA18951.hp1 NA18991.hp2 NA18992.hp2 others(1): Show |
intron_variant | MODIFIER | c.72+294C>A | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584313 | |||||||
chrX:141584363 | G | A | 3 | a0001c0001t0001g0011 a0005c0007t0004g0021 a0007c0006t0004g0020 |
4 | HG02717.hp1 HG02965.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.72+244C>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584363 | |||||||
chrX:141584402 | T | C | 2 | a0001c0001t0002g0024 a0001c0001t0004g0009 |
4 | HG01106.hp1 HG01891.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+205A>G | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584402 | |||||||
chrX:141584461 | C | G | 2 | a0002c0002t0003g0019 a0003c0003t0001g0007 |
4 | HG02055.hp1 HG02451.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+146G>C | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584461 | |||||||
chrX:141584462 | C | T | 2 | a0002c0002t0003g0019 a0003c0003t0001g0007 |
4 | HG02055.hp1 HG02451.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+145G>A | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584462 | |||||||
chrX:141584590 | G | A | 2 | a0005c0007t0004g0021 a0007c0006t0004g0020 |
2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.72+17C>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584590 | |||||||
chrX:141584600 | G | A | 2 | a0005c0007t0004g0021 a0007c0006t0004g0020 |
2 | HG03041.hp2 NA19030.hp1 |
splice_region_variant&intron_variant | LOW | c.72+7C>T | SPANXA1 | ENSG00000198021.8 | transcript | ENST00000370519.4 | protein_coding | 1/1 | chrX | 141584600 |