| geneid | 8293 |
|---|---|
| ensemblid | ENSG00000172058.16 |
| hgncid | 10755 |
| symbol | SERF1A |
| name | small EDRK-rich factor 1A |
| refseq_nuc | NM_022968.2 |
| refseq_prot | NP_075257.1 |
| ensembl_nuc | ENST00000317633.14 |
| ensembl_prot | ENSP00000321791.8 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 70900669 |
| end | 70908115 |
| strand | + |
| ver | v1.2 |
| region | chr5:70900669-70908115 |
| region5000 | chr5:70895669-70913115 |
| regionname0 | SERF1A_chr5_70900669_70908115 |
| regionname5000 | SERF1A_chr5_70895669_70913115 |
| 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 | 62 | 4 | 0 | 0 | 2 | 0 | 2 | 2 | SERF1A_chr5_70895669_70913115 | SERF1A | copy fasta | chr5 | 70895669 | 70913115 |
| 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 | 189 | 4 | 0 | 0 | 2 | 0 | 2 | SERF1A_chr5_70895669_70913115 | SERF1A | copy fasta | chr5 | 70895669 | 70913115 |
| 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 | 511 | 4 | 0 | 0 | 2 | 0 | 2 | SERF1A_chr5_70895669_70913115 | SERF1A | copy fasta | chr5 | 70895669 | 70913115 |
| 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 | 2 | 0 | 0 | 1 | 0 | 1 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| 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 | 189 | 4 | 0 | 0 | 2 | 0 | 2 | SERF1A_chr5_70895669_70913115 | SERF1A | copy fasta | chr5 | 70895669 | 70913115 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 699 | 4 | 0 | 0 | 2 | 0 | 2 | SERF1A_chr5_70895669_70913115 | SERF1A | copy fasta | chr5 | 70895669 | 70913115 |
| 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 | 2 | 0 | 0 | 1 | 0 | 1 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | GIH | SERF1A_chr5_70895669_70913115 | SERF1A | chr5 | 70895669 | 70913115 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70903743
|
C | T | 1 | a0001c0001t0001g0003 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.116+1810C>T | SERF1A | ENSG00000172058.16 | transcript | ENST00000317633.14 | protein_coding | 2/2 | chr5 | 70903743 | ||||||
| chr5:70905179
|
T | C | 1 | a0001c0001t0001g0002 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.117-2555T>C | SERF1A | ENSG00000172058.16 | transcript | ENST00000317633.14 | protein_coding | 2/2 | chr5 | 70905179 |