| 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 |
|---|