| geneid | 8209 |
|---|---|
| ensemblid | ENSG00000160221.18 |
| hgncid | 1273 |
| symbol | GATD3 |
| name | glutamine amidotransferase class 1 domain containing 3 |
| refseq_nuc | NM_004649.8 |
| refseq_prot | NP_004640.4 |
| ensembl_nuc | ENST00000291577.11 |
| ensembl_prot | ENSP00000291577.6 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 44133683 |
| end | 44145711 |
| strand | + |
| ver | v1.2 |
| region | chr21:44133683-44145711 |
| region5000 | chr21:44128683-44150711 |
| regionname0 | GATD3_chr21_44133683_44145711 |
| regionname5000 | GATD3_chr21_44128683_44150711 |
| 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 | 268 | 34 | 24 | 5 | 5 | 0 | 0 | 3 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002 | 0/0 | 268 | 20 | 14 | 3 | 3 | 0 | 0 | 1 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| 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 | 807 | 34 | 24 | 5 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| c0002 | 0/0 | 807 | 20 | 14 | 3 | 3 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| 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 | 778 | 32 | 23 | 4 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0002 | 0/0 | 777 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0003 | 0/0 | 778 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0004 | 0/0 | 773 | 4 | 0 | 2 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0005 | 0/0 | 778 | 2 | 1 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0006 | 0/0 | 773 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| t0007 | 0/0 | 777 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| 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 | 8 | 8 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0002 | 0/0 | 6 | 0 | 2 | 4 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0003 | 0/0 | 5 | 1 | 2 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0004 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0005 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| 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 | 807 | 34 | 24 | 5 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002 | 0/0 | 807 | 20 | 14 | 3 | 3 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1584 | 32 | 23 | 4 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0001c0001t0005 | 0/0 | 1584 | 2 | 1 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002t0002 | 0/0 | 1583 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002t0003 | 0/0 | 1584 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002t0004 | 0/0 | 1579 | 4 | 0 | 2 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002t0006 | 0/0 | 1579 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| a0002c0002t0007 | 0/0 | 1583 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | copy fasta | chr21 | 44128683 | 44150711 |
| 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 | 8 | 8 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0002 | 0/0 | 6 | 0 | 2 | 4 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0005 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0005g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0001c0001t0005g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0002g0004 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0003g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0003g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0004g0003 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0004g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0006g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| a0002c0002t0007g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG01081 | hp2 | a0001 | c0001 | t0005 | g0020 | AMR | PUR | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG01358 | hp1 | a0002 | c0002 | t0004 | g0003 | AMR | CLM | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02148 | hp1 | a0002 | c0002 | t0004 | g0021 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02155 | hp2 | a0002 | c0002 | t0004 | g0003 | EAS | CDX | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02257 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02280 | hp2 | a0002 | c0002 | t0003 | g0012 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02300 | hp2 | a0002 | c0002 | t0006 | g0003 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02717 | hp1 | a0002 | c0002 | t0003 | g0008 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02809 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02922 | hp2 | a0002 | c0002 | t0002 | g0027 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02965 | hp1 | a0002 | c0002 | t0003 | g0007 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02976 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03139 | hp1 | a0002 | c0002 | t0003 | g0008 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03209 | hp2 | a0001 | c0001 | t0005 | g0009 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03453 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03516 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03516 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG03540 | hp2 | a0002 | c0002 | t0003 | g0011 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA18612 | hp1 | a0002 | c0002 | t0004 | g0003 | EAS | CHB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19043 | hp1 | a0002 | c0002 | t0003 | g0007 | AFR | LWK | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19058 | hp2 | a0002 | c0002 | t0007 | g0019 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| HG02559 | hp2 | a0002 | c0002 | t0003 | g0010 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44144884
|
C | G | 1 | a0002 | 20 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show |
missense_variant | MODERATE | c.742C>G | p.Leu248Val | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 757/1584 | 742/807 | 248/268 | chr21 | 44144884 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44145049
|
CT | C | 4 | a0002c0002t0002a0002c0002t0004a0002c0002t0006others(1): Show | 13 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*112delT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 112 | INFO_REALIGN_3_PRIME | chr21 | 44145049 | ||||
| chr21:44145133
|
G | T | 1 | a0002c0002t0007 | 1 | NA19058.hp2 | 3_prime_UTR_variant | MODIFIER | c.*184G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 184 | chr21 | 44145133 | |||||
| chr21:44145258
|
C | T | 1 | a0002c0002t0006 | 1 | HG02300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*309C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 309 | chr21 | 44145258 | |||||
| chr21:44145280
|
GGTTA | G | 2 | a0002c0002t0004a0002c0002t0006 | 5 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*339_*342delAGTT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 339 | INFO_REALIGN_3_PRIME | chr21 | 44145280 | ||||
| chr21:44145591
|
C | T | 6 | a0001c0001t0005a0002c0002t0002a0002c0002t0003others(3): Show | 22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*642C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 642 | chr21 | 44145591 | |||||
| chr21:44145679
|
G | A | 1 | a0002c0002t0003 | 7 | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*730G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 730 | chr21 | 44145679 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44133921
|
C | T | 2 | a0002c0002t0002g0004a0002c0002t0002g0027 | 6 | HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.141+83C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1/6 | chr21 | 44133921 | ||||||
| chr21:44134225
|
C | G | 1 | a0001c0001t0001g0026 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.194+71C>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44134225 | ||||||
| chr21:44135212
|
G | A | 1 | a0001c0001t0005g0009 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.195-848G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135212 | ||||||
| chr21:44135389
|
C | T | 2 | a0001c0001t0001g0024a0001c0001t0001g0025 | 2 | HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.195-671C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135389 | ||||||
| chr21:44135999
|
G | T | 1 | a0001c0001t0001g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.195-61G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135999 | ||||||
| chr21:44136053
|
C | T | 1 | a0001c0001t0001g0022 | 1 | HG02300.hp1 | splice_region_variant&intron_variant | LOW | c.195-7C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44136053 | ||||||
| chr21:44136275
|
C | A | 5 | a0002c0002t0003g0007a0002c0002t0003g0008a0002c0002t0003g0010others(2): Show | 7 | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.308+102C>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136275 | ||||||
| chr21:44136304
|
A | G | 16 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0005g0009others(13): Show | 24 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(21): Show |
intron_variant | MODIFIER | c.308+131A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136304 | ||||||
| chr21:44136558
|
T | C | 1 | a0001c0001t0001g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.308+385T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136558 | ||||||
| chr21:44137345
|
G | A | 2 | a0001c0001t0001g0001a0001c0001t0001g0013 | 9 | HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.428+49G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44137345 | ||||||
| chr21:44137866
|
G | GT | 7 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(4): Show | 9 | HG02148.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.428+585dupT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr21 | 44137866 | |||||
| chr21:44137906
|
T | C | 3 | a0002c0002t0003g0007a0002c0002t0003g0010a0002c0002t0003g0011 | 4 | HG02559.hp2 HG02965.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.428+610T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44137906 | ||||||
| chr21:44138079
|
C | T | 2 | a0001c0001t0005g0009a0001c0001t0005g0020 | 2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.428+783C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44138079 | ||||||
| chr21:44138123
|
T | C | 29 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(26): Show | 54 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(51): Show |
intron_variant | MODIFIER | c.428+827T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44138123 | ||||||
| chr21:44139098
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.429-1152C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139098 | ||||||
| chr21:44139579
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.429-671G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139579 | ||||||
| chr21:44139652
|
G | A | 1 | a0001c0001t0001g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.429-598G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139652 | ||||||
| chr21:44139811
|
A | G | 14 | a0001c0001t0005g0009a0001c0001t0005g0020a0002c0002t0002g0003others(11): Show | 22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
intron_variant | MODIFIER | c.429-439A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139811 | ||||||
| chr21:44139893
|
G | A | 1 | a0002c0002t0007g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.429-357G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139893 | ||||||
| chr21:44140164
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.429-86G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44140164 | ||||||
| chr21:44140517
|
G | C | 29 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(26): Show | 54 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(51): Show |
intron_variant | MODIFIER | c.521+175G>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44140517 | ||||||
| chr21:44140873
|
G | A | 8 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(5): Show | 22 | HG01358.hp2 HG02148.hp2 HG02155.hp1 others(19): Show |
intron_variant | MODIFIER | c.521+531G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44140873 | ||||||
| chr21:44141067
|
A | G | 1 | a0001c0001t0001g0015 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+725A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141067 | ||||||
| chr21:44141942
|
A | G | 1 | a0001c0001t0001g0014 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.522-1263A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141942 | ||||||
| chr21:44141972
|
G | GT | 12 | a0001c0001t0005g0009a0001c0001t0005g0020a0002c0002t0002g0003others(9): Show | 16 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-1229dupT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | 44141972 | |||||
| chr21:44141976
|
T | TG | 2 | a0002c0002t0002g0004a0002c0002t0002g0027 | 6 | HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.522-1224dupG | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | 44141976 | |||||
| chr21:44141983
|
G | A | 1 | a0002c0002t0002g0027 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.522-1222G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141983 | ||||||
| chr21:44142061
|
A | G | 1 | a0002c0002t0003g0011 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-1144A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142061 | ||||||
| chr21:44142364
|
G | T | 1 | a0002c0002t0007g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.522-841G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142364 | ||||||
| chr21:44142382
|
A | C | 1 | a0001c0001t0001g0018 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.522-823A>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142382 | ||||||
| chr21:44142425
|
GGGATGGG others(5): Show |
G | 1 | a0002c0002t0003g0010 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-779_522-768del others(12): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142425 | ||||||
| chr21:44143110
|
G | T | 1 | a0002c0002t0007g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.522-95G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44143110 | ||||||
| chr21:44143762
|
C | T | 2 | a0001c0001t0001g0001a0001c0001t0001g0013 | 9 | HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.678+401C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44143762 | ||||||
| chr21:44143935
|
ACCAAGAA others(17): Show |
A | 12 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0027others(9): Show | 20 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show |
intron_variant | MODIFIER | c.678+577_678+600del others(24): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr21 | 44143935 | |||||
| chr21:44144178
|
A | G | 15 | a0001c0001t0001g0013a0001c0001t0005g0009a0001c0001t0005g0020others(12): Show | 23 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(20): Show |
intron_variant | MODIFIER | c.679-643A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144178 | ||||||
| chr21:44144179
|
T | C | 1 | a0002c0002t0007g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.679-642T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144179 | ||||||
| chr21:44144184
|
C | T | 1 | a0002c0002t0003g0012 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.679-637C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144184 | ||||||
| chr21:44144185
|
T | C | 1 | a0002c0002t0003g0012 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.679-636T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144185 | ||||||
| chr21:44144578
|
T | A | 14 | a0001c0001t0005g0009a0001c0001t0005g0020a0002c0002t0002g0003others(11): Show | 22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
intron_variant | MODIFIER | c.679-243T>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144578 |