Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 2569 |
|---|---|
| ensemblid | ENSG00000146276.13 |
| hgncid | 4090 |
| symbol | GABRR1 |
| name | gamma-aminobutyric acid type A receptor subunit rho1 |
| refseq_nuc | NM_002042.5 |
| refseq_prot | NP_002033.2 |
| ensembl_nuc | ENST00000454853.7 |
| ensembl_prot | ENSP00000412673.2 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 89177504 |
| end | 89217358 |
| strand | - |
| ver | v1.2 |
| region | chr6:89177504-89217358 |
| region5000 | chr6:89172504-89222358 |
| regionname0 | GABRR1_chr6_89177504_89217358 |
| regionname5000 | GABRR1_chr6_89172504_89222358 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 479 | 25 | 0 | 2 | 18 | 0 | 4 | 8 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1440 | 12 | 0 | 1 | 10 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| c0002 | 0/0 | 1440 | 10 | 0 | 1 | 7 | 0 | 2 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| c0003 | 1/0 | 1440 | 3 | 0 | 0 | 1 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0008 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1440 | 12 | 0 | 1 | 10 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0002 | 0/0 | 1440 | 10 | 0 | 1 | 7 | 0 | 2 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0003 | 1/0 | 1440 | 3 | 0 | 0 | 1 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2742 | 2 | 0 | 1 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0001t0002 | 0/0 | 2742 | 10 | 0 | 0 | 9 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0002t0001 | 0/0 | 2742 | 10 | 0 | 1 | 7 | 0 | 2 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0003t0001 | 1/0 | 2742 | 1 | 0 | 0 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| a0001c0003t0002 | 0/0 | 2742 | 2 | 0 | 0 | 1 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | copy fasta | chr6 | 89172504 | 89222358 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0003t0001g0008 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0003t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| a0001c0003t0002g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00558 | hp1 | a0001 | c0003 | t0002 | g0006 | EAS | CHS | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG00558 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | CHS | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | CHS | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG00621 | hp2 | a0001 | c0001 | t0002 | g0025 | EAS | CHS | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG00642 | hp2 | a0001 | c0002 | t0001 | g0015 | AMR | PUR | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0016 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0012 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02056 | hp2 | a0001 | c0001 | t0002 | g0021 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0024 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0022 | EAS | KHV | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0007 | SAS | PJL | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG03654 | hp2 | a0001 | c0003 | t0002 | g0017 | SAS | PJL | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0020 | SAS | STU | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| HG04228 | hp2 | a0001 | c0002 | t0001 | g0018 | SAS | STU | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18942 | hp1 | a0001 | c0002 | t0001 | g0014 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18965 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18965 | hp2 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18966 | hp1 | a0001 | c0001 | t0002 | g0009 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA18966 | hp2 | a0001 | c0002 | t0001 | g0010 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0013 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| NA19068 | hp2 | a0001 | c0001 | t0002 | g0019 | EAS | JPT | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| homoSapiens_grch38 | hp1 | a0001 | c0003 | t0001 | g0008 | REF | REF | GABRR1_chr6_89172504_89222358 | GABRR1 | chr6 | 89172504 | 89222358 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:89179025
|
C | T | 1 | a0001c0002 | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
synonymous_variant | LOW | c.1185G>A | p.Ala395Ala | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 10/10 | 1221/2742 | 1185/1440 | 395/479 | chr6 | 89179025 | ||
| chr6:89198154
|
G | A | 2 | a0001c0001a0001c0002 | 22 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(19): Show |
synonymous_variant | LOW | c.438C>T | p.Asp146Asp | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/10 | 474/2742 | 438/1440 | 146/479 | chr6 | 89198154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:89178724
|
T | C | 2 | a0001c0001t0002a0001c0003t0002 | 12 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*46A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 10/10 | 46 | chr6 | 89178724 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:89179495
|
C | T | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.1147-432G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 9/9 | chr6 | 89179495 | ||||||
| chr6:89179519
|
C | T | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.1147-456G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 9/9 | chr6 | 89179519 | ||||||
| chr6:89179742
|
G | A | 12 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(9): Show | 12 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(9): Show |
intron_variant | MODIFIER | c.1146+550C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 9/9 | chr6 | 89179742 | ||||||
| chr6:89180074
|
CA | C | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.1146+217delT | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 9/9 | chr6 | 89180074 | ||||||
| chr6:89180081
|
A | G | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.1146+211T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 9/9 | chr6 | 89180081 | ||||||
| chr6:89180656
|
C | T | 22 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(19): Show | 22 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(19): Show |
intron_variant | MODIFIER | c.950-168G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 8/9 | chr6 | 89180656 | ||||||
| chr6:89181863
|
T | C | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.949+42A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 8/9 | chr6 | 89181863 | ||||||
| chr6:89182328
|
T | G | 24 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.797-271A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89182328 | ||||||
| chr6:89182457
|
G | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.797-400C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89182457 | ||||||
| chr6:89182730
|
A | G | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.797-673T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89182730 | ||||||
| chr6:89182896
|
T | C | 1 | a0001c0002t0001g0012 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.797-839A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89182896 | ||||||
| chr6:89183146
|
GA | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(8): Show | 11 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.797-1090delT | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183146 | ||||||
| chr6:89183158
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.797-1101C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183158 | ||||||
| chr6:89183158
|
G | C | 1 | a0001c0003t0002g0006 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.797-1101C>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183158 | ||||||
| chr6:89183160
|
C | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0003t0002g0006 | 3 | HG00558.hp1 HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.797-1103G>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183160 | ||||||
| chr6:89183160
|
C | CAAA | 11 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(8): Show | 11 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.797-1106_797-1104d others(5): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183160 | ||||||
| chr6:89183443
|
G | A | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.797-1386C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183443 | ||||||
| chr6:89183494
|
G | A | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.797-1437C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183494 | ||||||
| chr6:89183503
|
A | AGC | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.797-1447_797-1446i others(4): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183503 | ||||||
| chr6:89183680
|
T | TA | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007others(5): Show | 8 | HG00558.hp1 HG00642.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.797-1624dupT | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183680 | ||||||
| chr6:89183815
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007others(5): Show | 8 | HG00558.hp1 HG00642.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.796+1495T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183815 | ||||||
| chr6:89183859
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007others(5): Show | 8 | HG00558.hp1 HG00642.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.796+1451C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183859 | ||||||
| chr6:89183867
|
A | G | 14 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(11): Show | 14 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.796+1443T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183867 | ||||||
| chr6:89183998
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007others(5): Show | 8 | HG00558.hp1 HG00642.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.796+1312T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89183998 | ||||||
| chr6:89184015
|
C | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007 | 3 | HG00642.hp1 HG03654.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.796+1295G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184015 | ||||||
| chr6:89184120
|
A | G | 1 | a0001c0003t0002g0017 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.796+1190T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184120 | ||||||
| chr6:89184264
|
A | AT | 5 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(2): Show | 5 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(2): Show |
intron_variant | MODIFIER | c.796+1045_796+1046i others(3): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184264 | ||||||
| chr6:89184264
|
A | T | 1 | a0001c0001t0002g0022 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.796+1046T>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184264 | ||||||
| chr6:89184297
|
C | G | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.796+1013G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184297 | ||||||
| chr6:89184387
|
T | C | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.796+923A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184387 | ||||||
| chr6:89184400
|
G | T | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.796+910C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184400 | ||||||
| chr6:89184794
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.796+516G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184794 | ||||||
| chr6:89184801
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.796+509C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184801 | ||||||
| chr6:89184885
|
C | CT | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(4): Show |
intron_variant | MODIFIER | c.796+424dupA | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184885 | ||||||
| chr6:89184995
|
C | T | 1 | a0001c0003t0002g0006 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.796+315G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89184995 | ||||||
| chr6:89185249
|
G | A | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG00642.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.796+61C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 7/9 | chr6 | 89185249 | ||||||
| chr6:89185483
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(5): Show | 8 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(5): Show |
intron_variant | MODIFIER | c.656-33C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89185483 | ||||||
| chr6:89185488
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(5): Show | 8 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(5): Show |
intron_variant | MODIFIER | c.656-38C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89185488 | ||||||
| chr6:89186089
|
C | T | 6 | a0001c0001t0002g0007a0001c0001t0002g0021a0001c0001t0002g0023others(3): Show | 6 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.656-639G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89186089 | ||||||
| chr6:89187185
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.656-1735A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89187185 | ||||||
| chr6:89187208
|
G | T | 13 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(10): Show | 13 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(10): Show |
intron_variant | MODIFIER | c.656-1758C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89187208 | ||||||
| chr6:89187210
|
T | G | 1 | a0001c0001t0001g0002 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.656-1760A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89187210 | ||||||
| chr6:89187817
|
C | T | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+2348G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89187817 | ||||||
| chr6:89188198
|
A | G | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.655+1967T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188198 | ||||||
| chr6:89188378
|
T | G | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+1787A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188378 | ||||||
| chr6:89188396
|
A | C | 6 | a0001c0001t0002g0007a0001c0001t0002g0021a0001c0001t0002g0023others(3): Show | 6 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+1769T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188396 | ||||||
| chr6:89188608
|
T | TTTG | 7 | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0001t0002g0021others(4): Show | 7 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.655+1554_655+1556d others(5): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188608 | ||||||
| chr6:89188783
|
T | C | 6 | a0001c0001t0002g0007a0001c0001t0002g0021a0001c0001t0002g0023others(3): Show | 6 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+1382A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188783 | ||||||
| chr6:89188820
|
C | T | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+1345G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188820 | ||||||
| chr6:89188989
|
T | A | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.655+1176A>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89188989 | ||||||
| chr6:89189042
|
C | CTGTG | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+1119_655+1122d others(6): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89189042 | ||||||
| chr6:89189271
|
A | C | 6 | a0001c0001t0002g0007a0001c0001t0002g0021a0001c0001t0002g0023others(3): Show | 6 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+894T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89189271 | ||||||
| chr6:89189585
|
G | A | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.655+580C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89189585 | ||||||
| chr6:89189608
|
A | T | 2 | a0001c0002t0001g0004a0001c0002t0001g0005 | 2 | HG00558.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.655+557T>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 6/9 | chr6 | 89189608 | ||||||
| chr6:89190656
|
A | C | 6 | a0001c0001t0002g0007a0001c0001t0002g0021a0001c0001t0002g0023others(3): Show | 6 | HG00558.hp1 HG02056.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.573-409T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89190656 | ||||||
| chr6:89190880
|
C | T | 10 | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(7): Show | 10 | HG00558.hp2 HG00642.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.573-633G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89190880 | ||||||
| chr6:89190968
|
C | T | 1 | a0001c0001t0002g0007 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.573-721G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89190968 | ||||||
| chr6:89191224
|
T | G | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.573-977A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89191224 | ||||||
| chr6:89191322
|
T | C | 1 | a0001c0001t0002g0003 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.573-1075A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89191322 | ||||||
| chr6:89191622
|
T | C | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.573-1375A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89191622 | ||||||
| chr6:89192040
|
GA | G | 6 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.573-1794delT | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89192040 | ||||||
| chr6:89192368
|
A | G | 12 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0009others(9): Show | 12 | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(9): Show |
intron_variant | MODIFIER | c.573-2121T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89192368 | ||||||
| chr6:89192564
|
CT | C | 9 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(6): Show | 9 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(6): Show |
intron_variant | MODIFIER | c.573-2318delA | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89192564 | ||||||
| chr6:89193506
|
C | T | 6 | a0001c0001t0002g0003a0001c0001t0002g0016a0001c0001t0002g0019others(3): Show | 6 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.573-3259G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89193506 | ||||||
| chr6:89193601
|
C | T | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.573-3354G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89193601 | ||||||
| chr6:89194161
|
C | T | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.572+3859G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89194161 | ||||||
| chr6:89195153
|
G | A | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2867C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195153 | ||||||
| chr6:89195278
|
C | T | 1 | a0001c0001t0002g0009 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.572+2742G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195278 | ||||||
| chr6:89195443
|
G | A | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2577C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195443 | ||||||
| chr6:89195453
|
A | G | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.572+2567T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195453 | ||||||
| chr6:89195707
|
A | C | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2313T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195707 | ||||||
| chr6:89195715
|
G | T | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2305C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195715 | ||||||
| chr6:89195724
|
C | T | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2296G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195724 | ||||||
| chr6:89195864
|
C | G | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.572+2156G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89195864 | ||||||
| chr6:89196301
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+1719G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196301 | ||||||
| chr6:89196697
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+1323C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196697 | ||||||
| chr6:89196822
|
G | GGAAAGAA others(1): Show |
7 | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0002t0001g0004others(4): Show | 7 | HG00558.hp1 HG00558.hp2 HG00642.hp2 others(4): Show |
intron_variant | MODIFIER | c.572+1190_572+1197d others(10): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196822 | ||||||
| chr6:89196822
|
G | GGAAAGAA others(5): Show |
2 | a0001c0001t0001g0002a0001c0001t0002g0007 | 2 | HG03654.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.572+1186_572+1197d others(14): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196822 | ||||||
| chr6:89196822
|
G | GGAAAGAA others(9): Show |
2 | a0001c0001t0002g0024a0001c0002t0001g0010 | 2 | HG02523.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.572+1182_572+1197d others(18): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196822 | ||||||
| chr6:89196822
|
GGAAA | G | 2 | a0001c0001t0001g0011a0001c0002t0001g0012 | 2 | HG00642.hp1 HG02040.hp2 |
intron_variant | MODIFIER | c.572+1194_572+1197d others(6): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196822 | ||||||
| chr6:89196826
|
A | G | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.572+1194T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196826 | ||||||
| chr6:89196875
|
G | GAAAGAAA others(6): Show |
1 | a0001c0001t0002g0016 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.572+1144_572+1145i others(15): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196875 | ||||||
| chr6:89196875
|
G | GAAAGAAA others(10): Show |
4 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0019others(1): Show | 4 | HG00621.hp1 HG02523.hp2 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.572+1144_572+1145i others(19): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196875 | ||||||
| chr6:89196875
|
G | GAAAGAAA others(18): Show |
1 | a0001c0001t0002g0025 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.572+1144_572+1145i others(27): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196875 | ||||||
| chr6:89196881
|
G | A | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.572+1139C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196881 | ||||||
| chr6:89196906
|
T | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+1114A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196906 | ||||||
| chr6:89196908
|
A | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+1112T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196908 | ||||||
| chr6:89196969
|
G | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+1051C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89196969 | ||||||
| chr6:89197024
|
A | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+996T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197024 | ||||||
| chr6:89197296
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+724G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197296 | ||||||
| chr6:89197304
|
A | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+716T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197304 | ||||||
| chr6:89197390
|
T | G | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.572+630A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197390 | ||||||
| chr6:89197465
|
C | T | 1 | a0001c0001t0002g0021 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.572+555G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197465 | ||||||
| chr6:89197544
|
T | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.572+476A>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197544 | ||||||
| chr6:89197842
|
C | G | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.572+178G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | 89197842 | ||||||
| chr6:89198857
|
A | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.348+505T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 4/9 | chr6 | 89198857 | ||||||
| chr6:89199018
|
G | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.348+344C>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 4/9 | chr6 | 89199018 | ||||||
| chr6:89199772
|
C | T | 7 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0016others(4): Show | 7 | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.281-343G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89199772 | ||||||
| chr6:89199838
|
A | C | 22 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(19): Show | 22 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(19): Show |
intron_variant | MODIFIER | c.281-409T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89199838 | ||||||
| chr6:89200045
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0002t0001g0005 | 3 | HG03654.hp1 NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.281-616G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200045 | ||||||
| chr6:89200241
|
CT | C | 16 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0016others(13): Show | 16 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.281-813delA | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200241 | ||||||
| chr6:89200241
|
CTTTTT | C | 3 | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0002t0001g0005 | 3 | HG03654.hp1 NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.281-817_281-813del others(5): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200241 | ||||||
| chr6:89200561
|
C | T | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.280+598G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200561 | ||||||
| chr6:89200584
|
A | AT | 16 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0007others(13): Show | 16 | HG00558.hp2 HG00642.hp1 HG00642.hp2 others(13): Show |
intron_variant | MODIFIER | c.280+574dupA | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200584 | ||||||
| chr6:89200754
|
A | G | 24 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.280+405T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200754 | ||||||
| chr6:89200966
|
C | CTG | 24 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.280+191_280+192dup others(2): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200966 | ||||||
| chr6:89200996
|
C | T | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.280+163G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 3/9 | chr6 | 89200996 | ||||||
| chr6:89201501
|
C | T | 1 | a0001c0001t0002g0007 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.174-236G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89201501 | ||||||
| chr6:89201507
|
C | T | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.174-242G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89201507 | ||||||
| chr6:89201778
|
CAA | C | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.174-515_174-514del others(2): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89201778 | ||||||
| chr6:89201819
|
C | A | 24 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.174-554G>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89201819 | ||||||
| chr6:89201968
|
G | A | 4 | a0001c0001t0002g0009a0001c0001t0002g0019a0001c0001t0002g0025others(1): Show | 4 | HG00621.hp2 HG04228.hp2 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.174-703C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89201968 | ||||||
| chr6:89202002
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.174-737G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202002 | ||||||
| chr6:89202051
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.174-786C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202051 | ||||||
| chr6:89202065
|
A | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.174-800T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202065 | ||||||
| chr6:89202146
|
A | G | 19 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(16): Show | 19 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.174-881T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202146 | ||||||
| chr6:89202283
|
TTTTG | T | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.174-1022_174-1019d others(6): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202283 | ||||||
| chr6:89202307
|
G | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.174-1042C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202307 | ||||||
| chr6:89202324
|
C | T | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.174-1059G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202324 | ||||||
| chr6:89202647
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+788C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202647 | ||||||
| chr6:89202717
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+718C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202717 | ||||||
| chr6:89202737
|
C | T | 1 | a0001c0001t0002g0007 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.173+698G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89202737 | ||||||
| chr6:89203004
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+431C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89203004 | ||||||
| chr6:89203176
|
A | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+259T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89203176 | ||||||
| chr6:89203267
|
G | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+168C>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89203267 | ||||||
| chr6:89203389
|
C | G | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+46G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89203389 | ||||||
| chr6:89203393
|
G | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+42C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 2/9 | chr6 | 89203393 | ||||||
| chr6:89203490
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
splice_region_variant&intron_variant | LOW | c.123-5G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89203490 | ||||||
| chr6:89203499
|
T | A | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.123-14A>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89203499 | ||||||
| chr6:89203567
|
T | C | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.123-82A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89203567 | ||||||
| chr6:89203801
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.123-316G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89203801 | ||||||
| chr6:89203965
|
C | T | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-480G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89203965 | ||||||
| chr6:89204419
|
G | C | 16 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0016others(13): Show | 16 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.123-934C>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89204419 | ||||||
| chr6:89204468
|
T | C | 18 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0016others(15): Show | 18 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(15): Show |
intron_variant | MODIFIER | c.123-983A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89204468 | ||||||
| chr6:89204720
|
A | G | 1 | a0001c0001t0002g0007 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.123-1235T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89204720 | ||||||
| chr6:89204758
|
G | A | 24 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0002g0003others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.123-1273C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89204758 | ||||||
| chr6:89205044
|
C | T | 3 | a0001c0001t0002g0009a0001c0001t0002g0019a0001c0002t0001g0018 | 3 | HG04228.hp2 NA18966.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.123-1559G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205044 | ||||||
| chr6:89205120
|
C | T | 21 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0009others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.123-1635G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205120 | ||||||
| chr6:89205685
|
C | A | 2 | a0001c0003t0002g0006a0001c0003t0002g0017 | 2 | HG00558.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.123-2200G>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205685 | ||||||
| chr6:89205735
|
A | C | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2250T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205735 | ||||||
| chr6:89205787
|
C | T | 20 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0007others(17): Show | 20 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(17): Show |
intron_variant | MODIFIER | c.123-2302G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205787 | ||||||
| chr6:89205821
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.123-2336A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205821 | ||||||
| chr6:89205959
|
C | T | 2 | a0001c0001t0002g0019a0001c0002t0001g0018 | 2 | HG04228.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.123-2474G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205959 | ||||||
| chr6:89205965
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0002g0019a0001c0002t0001g0005others(1): Show | 4 | HG04228.hp2 NA18942.hp2 NA18965.hp1 others(1): Show |
intron_variant | MODIFIER | c.123-2480A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205965 | ||||||
| chr6:89205970
|
T | C | 2 | a0001c0001t0002g0019a0001c0002t0001g0018 | 2 | HG04228.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.123-2485A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89205970 | ||||||
| chr6:89206011
|
G | A | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2526C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206011 | ||||||
| chr6:89206042
|
T | C | 22 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0007others(19): Show | 22 | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(19): Show |
intron_variant | MODIFIER | c.123-2557A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206042 | ||||||
| chr6:89206082
|
A | C | 3 | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0002t0001g0005 | 3 | HG03654.hp1 NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2597T>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206082 | ||||||
| chr6:89206087
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0002t0001g0005 | 3 | HG03654.hp1 NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2602G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206087 | ||||||
| chr6:89206246
|
T | TCCC | 5 | a0001c0001t0001g0002a0001c0001t0002g0019a0001c0002t0001g0005others(2): Show | 5 | HG00558.hp1 HG04228.hp2 NA18942.hp2 others(2): Show |
intron_variant | MODIFIER | c.123-2762_123-2761i others(5): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206246 | ||||||
| chr6:89206280
|
G | A | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2795C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206280 | ||||||
| chr6:89206327
|
T | C | 5 | a0001c0001t0001g0002a0001c0001t0002g0019a0001c0002t0001g0005others(2): Show | 5 | HG00558.hp1 HG04228.hp2 NA18942.hp2 others(2): Show |
intron_variant | MODIFIER | c.123-2842A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206327 | ||||||
| chr6:89206330
|
A | G | 2 | a0001c0001t0001g0002a0001c0002t0001g0005 | 2 | NA18942.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.123-2845T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206330 | ||||||
| chr6:89206381
|
G | A | 2 | a0001c0001t0002g0019a0001c0002t0001g0018 | 2 | HG04228.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.123-2896C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206381 | ||||||
| chr6:89206922
|
C | T | 2 | a0001c0002t0001g0005a0001c0003t0002g0006 | 2 | HG00558.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.123-3437G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206922 | ||||||
| chr6:89206973
|
G | A | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-3488C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89206973 | ||||||
| chr6:89207198
|
G | T | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-3713C>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89207198 | ||||||
| chr6:89207235
|
T | C | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-3750A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89207235 | ||||||
| chr6:89207523
|
T | C | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-4038A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89207523 | ||||||
| chr6:89208084
|
C | G | 1 | a0001c0003t0002g0006 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.123-4599G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208084 | ||||||
| chr6:89208183
|
G | A | 1 | a0001c0003t0002g0006 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.123-4698C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208183 | ||||||
| chr6:89208195
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.123-4710A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208195 | ||||||
| chr6:89208524
|
G | A | 1 | a0001c0003t0002g0006 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.123-5039C>T | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208524 | ||||||
| chr6:89208545
|
C | G | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-5060G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208545 | ||||||
| chr6:89208623
|
A | G | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-5138T>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208623 | ||||||
| chr6:89208667
|
C | T | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-5182G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208667 | ||||||
| chr6:89208843
|
C | T | 2 | a0001c0002t0001g0005a0001c0003t0002g0006 | 2 | HG00558.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.123-5358G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208843 | ||||||
| chr6:89208878
|
T | C | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-5393A>G | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208878 | ||||||
| chr6:89208919
|
C | G | 1 | a0001c0002t0001g0005 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.123-5434G>C | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89208919 | ||||||
| chr6:89209639
|
C | T | 1 | a0001c0002t0001g0004 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.123-6154G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89209639 | ||||||
| chr6:89210021
|
C | T | 1 | a0001c0001t0002g0003 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.123-6536G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89210021 | ||||||
| chr6:89210182
|
A | AT | 3 | a0001c0001t0001g0002a0001c0001t0002g0021a0001c0002t0001g0001 | 3 | HG02056.hp1 HG02056.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.123-6698dupA | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89210182 | ||||||
| chr6:89212089
|
C | T | 1 | a0001c0002t0001g0001 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.122+5112G>A | GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89212089 | ||||||
| chr6:89212657
|
GTTAT | G | 5 | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0023others(2): Show | 5 | HG00621.hp2 HG02056.hp2 HG02523.hp1 others(2): Show |
intron_variant | MODIFIER | c.122+4540_122+4543d others(6): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 1/9 | chr6 | 89212657 |