geneid | 728042 |
---|---|
ensemblid | ENSG00000226600.3 |
hgncid | 33290 |
symbol | CT47A9 |
name | cancer/testis antigen family 47 member A9 |
refseq_nuc | NM_001080138.2 |
refseq_prot | NP_001073607.1 |
ensembl_nuc | ENST00000417256.3 |
ensembl_prot | ENSP00000408204.2 |
mane_status | MANE Select |
chr | chrX |
start | 120943561 |
end | 120946883 |
strand | - |
ver | v1.2 |
region | chrX:120943561-120946883 |
region5000 | chrX:120938561-120951883 |
regionname0 | CT47A9_chrX_120943561_120946883 |
regionname5000 | CT47A9_chrX_120938561_120951883 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 288 | 6 | 0 | 0 | 6 | 0 | 0 | 6 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0002 | 0/0 | 288 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0003 | 0/0 | 31 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 867 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
c0002 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
c0003 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 432 | 8 | 0 | 0 | 8 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 867 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0002c0002 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0003c0003 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1298 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0002c0002t0001 | 0/0 | 1298 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
a0003c0003t0001 | 0/0 | 1299 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | copy fasta | chrX | 120938561 | 120951883 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
a0002c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
a0003c0003t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00597 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | CHS | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
HG00597 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA19086 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A9_chrX_120938561_120951883 | CT47A9 | chrX | 120938561 | 120951883 |
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:120946462
|
C | T | 1 | a0002 | 1 | HG00597.hp2 | missense_variant | MODERATE | c.163G>A | p.Ala55Thr | CT47A9 | ENSG00000226600.3 | transcript | ENST00000417256.3 | protein_coding | 1/3 | 422/1298 | 163/867 | 55/288 | chrX | 120946462 | ||
chrX:120946608
|
T | TC | 1 | a0003 | 1 | HG00597.hp1 | frameshift_variant | HIGH | c.16dupG | p.Asp6fs | CT47A9 | ENSG00000226600.3 | transcript | ENST00000417256.3 | protein_coding | 1/3 | 275/1298 | 16/867 | 6/288 | chrX | 120946608 |
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 |
---|
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 |
---|
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 |
---|