Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 3753 |
|---|---|
| ensemblid | ENSG00000180509.13 |
| hgncid | 6240 |
| symbol | KCNE1 |
| name | potassium voltage-gated channel subfamily E regulatory subunit 1 |
| refseq_nuc | NM_000219.6 |
| refseq_prot | NP_000210.2 |
| ensembl_nuc | ENST00000399286.3 |
| ensembl_prot | ENSP00000382226.2 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 34446690 |
| end | 34512210 |
| strand | - |
| ver | v1.2 |
| region | chr21:34446690-34512210 |
| region5000 | chr21:34441690-34517210 |
| regionname0 | KCNE1_chr21_34446690_34512210 |
| regionname5000 | KCNE1_chr21_34441690_34517210 |
| 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 | 1/0 | 129 | 15 | 2 | 5 | 0 | 3 | 4 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0002 | 0/1 | 129 | 3 | 0 | 1 | 0 | 1 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| 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 | 1/0 | 390 | 15 | 2 | 5 | 0 | 3 | 4 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| c0002 | 0/1 | 390 | 3 | 0 | 1 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| 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 | 3117 | 10 | 1 | 4 | 0 | 3 | 2 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0002 | 0/0 | 3117 | 2 | 0 | 1 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0003 | 0/0 | 3116 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0004 | 1/0 | 3116 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0005 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0006 | 0/0 | 3116 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0007 | 0/1 | 3117 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| t0008 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| 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 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0006 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0013 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| 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 | 1/0 | 390 | 15 | 2 | 5 | 0 | 3 | 4 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0002c0002 | 0/1 | 390 | 3 | 0 | 1 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3506 | 10 | 1 | 4 | 0 | 3 | 2 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0001c0001t0002 | 0/0 | 3506 | 2 | 0 | 1 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0001c0001t0004 | 1/0 | 3505 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0001c0001t0005 | 0/0 | 3506 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0001c0001t0008 | 0/0 | 3506 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0002c0002t0003 | 0/0 | 3505 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0002c0002t0006 | 0/0 | 3505 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| a0002c0002t0007 | 0/1 | 3506 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | copy fasta | chr21 | 34441690 | 34517210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0002g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0004g0013 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0005g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0001c0001t0008g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0002c0002t0003g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0002c0002t0006g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| a0002c0002t0007g0006 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0015 | EUR | GBR | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG00140 | hp2 | a0002 | c0002 | t0003 | g0005 | EUR | GBR | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG01433 | hp2 | a0002 | c0002 | t0006 | g0001 | AMR | CLM | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0003 | AMR | PEL | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PEL | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG02717 | hp1 | a0001 | c0001 | t0008 | g0018 | AFR | GWD | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG04228 | hp1 | a0001 | c0001 | t0005 | g0017 | SAS | STU | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | STU | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0014 | EUR | TSI | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0011 | EUR | TSI | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0007 | g0006 | REF | REF | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0004 | g0013 | REF | REF | KCNE1_chr21_34441690_34517210 | KCNE1 | chr21 | 34441690 | 34517210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:34449523
|
T | C | 1 | a0002 | 3 | HG00140.hp2 HG01433.hp2 homoSapiens_chm13v2.hp1 |
missense_variant | MODERATE | c.112A>G | p.Ser38Gly | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 672/3505 | 112/390 | 38/129 | chr21 | 34449523 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:34446716
|
G | A | 4 | a0001c0001t0005a0002c0002t0003a0002c0002t0006others(1): Show | 4 | HG00140.hp2 HG01433.hp2 HG04228.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2529C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 2529 | chr21 | 34446716 | |||||
| chr21:34447697
|
G | GC | 7 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | 17 | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1547dupG | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 1547 | chr21 | 34447697 | |||||
| chr21:34447923
|
T | C | 1 | a0002c0002t0007 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1322A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 1322 | chr21 | 34447923 | |||||
| chr21:34448026
|
T | C | 2 | a0002c0002t0003a0002c0002t0006 | 2 | HG00140.hp2 HG01433.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1219A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 1219 | chr21 | 34448026 | |||||
| chr21:34448298
|
AC | A | 2 | a0002c0002t0003a0002c0002t0006 | 2 | HG00140.hp2 HG01433.hp2 |
3_prime_UTR_variant | MODIFIER | c.*946delG | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 946 | chr21 | 34448298 | |||||
| chr21:34448667
|
A | G | 1 | a0002c0002t0007 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*578T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 578 | chr21 | 34448667 | |||||
| chr21:34448755
|
C | G | 1 | a0002c0002t0007 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*490G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 490 | chr21 | 34448755 | |||||
| chr21:34449113
|
T | C | 1 | a0002c0002t0007 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*132A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 4/4 | 132 | chr21 | 34449113 | |||||
| chr21:34511191
|
C | T | 2 | a0001c0001t0002a0002c0002t0003 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
5_prime_UTR_variant | MODIFIER | c.-252G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/4 | 61557 | chr21 | 34511191 | |||||
| chr21:34511192
|
T | C | 1 | a0001c0001t0008 | 1 | HG02717.hp1 | 5_prime_UTR_variant | MODIFIER | c.-253A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/4 | 61558 | chr21 | 34511192 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:34449743
|
A | G | 2 | a0002c0002t0003g0005a0002c0002t0006g0001 | 2 | HG00140.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.-50-59T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34449743 | ||||||
| chr21:34449813
|
A | G | 3 | a0002c0002t0003g0005a0002c0002t0006g0001a0002c0002t0007g0006 | 3 | HG00140.hp2 HG01433.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-50-129T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34449813 | ||||||
| chr21:34449972
|
T | C | 3 | a0001c0001t0001g0016a0001c0001t0005g0017a0002c0002t0007g0006 | 3 | HG03704.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-50-288A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34449972 | ||||||
| chr21:34450274
|
A | G | 5 | a0001c0001t0001g0002a0001c0001t0005g0017a0002c0002t0003g0005others(2): Show | 5 | HG00140.hp2 HG01433.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.-50-590T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450274 | ||||||
| chr21:34450460
|
T | C | 13 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.-50-776A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450460 | ||||||
| chr21:34450707
|
T | C | 1 | a0002c0002t0006g0001 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-50-1023A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450707 | ||||||
| chr21:34450851
|
T | TTTTA | 2 | a0001c0001t0001g0009a0002c0002t0007g0006 | 2 | HG03704.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-50-1171_-50-1168d others(6): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450851 | ||||||
| chr21:34450851
|
T | TTTTATTT others(9): Show |
3 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008 | 3 | HG01106.hp2 HG01433.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-50-1183_-50-1168d others(18): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450851 | ||||||
| chr21:34450851
|
T | TTTTATTT others(13): Show |
1 | a0001c0001t0001g0014 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-50-1187_-50-1168d others(22): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34450851 | ||||||
| chr21:34451000
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-1316G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34451000 | ||||||
| chr21:34451388
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-1704G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34451388 | ||||||
| chr21:34451481
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(5): Show | 8 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(5): Show |
intron_variant | MODIFIER | c.-50-1797C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34451481 | ||||||
| chr21:34451700
|
C | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.-50-2016G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34451700 | ||||||
| chr21:34451932
|
T | C | 9 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.-50-2248A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34451932 | ||||||
| chr21:34452170
|
G | A | 10 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.-50-2486C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452170 | ||||||
| chr21:34452304
|
T | C | 1 | a0001c0001t0001g0011 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-50-2620A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452304 | ||||||
| chr21:34452416
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-50-2732C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452416 | ||||||
| chr21:34452802
|
A | C | 10 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.-50-3118T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452802 | ||||||
| chr21:34452834
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-50-3150C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452834 | ||||||
| chr21:34452917
|
G | C | 2 | a0001c0001t0001g0002a0002c0002t0007g0006 | 2 | HG02717.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-50-3233C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452917 | ||||||
| chr21:34452968
|
A | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.-50-3284T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34452968 | ||||||
| chr21:34453112
|
G | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0011 | 2 | HG02717.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.-50-3428C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453112 | ||||||
| chr21:34453152
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-3468G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453152 | ||||||
| chr21:34453364
|
C | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-50-3680G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453364 | ||||||
| chr21:34453380
|
A | G | 17 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 17 | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.-50-3696T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453380 | ||||||
| chr21:34453769
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-4085G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453769 | ||||||
| chr21:34453940
|
T | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-4256A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453940 | ||||||
| chr21:34453955
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-50-4271A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453955 | ||||||
| chr21:34453970
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0008g0018 | 3 | HG01106.hp1 HG02717.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-50-4286C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34453970 | ||||||
| chr21:34454062
|
G | A | 6 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.-50-4378C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454062 | ||||||
| chr21:34454478
|
A | G | 13 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(10): Show | 13 | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-51+4176T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454478 | ||||||
| chr21:34454530
|
T | A | 2 | a0001c0001t0001g0002a0002c0002t0007g0006 | 2 | HG02717.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-51+4124A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454530 | ||||||
| chr21:34454579
|
C | T | 9 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG00140.hp1 HG01106.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.-51+4075G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454579 | ||||||
| chr21:34454655
|
C | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+3999G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454655 | ||||||
| chr21:34454741
|
G | T | 1 | a0001c0001t0001g0011 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-51+3913C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454741 | ||||||
| chr21:34454769
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-51+3885G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454769 | ||||||
| chr21:34454885
|
A | G | 14 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-51+3769T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454885 | ||||||
| chr21:34454924
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-51+3730C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34454924 | ||||||
| chr21:34455075
|
C | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+3579G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34455075 | ||||||
| chr21:34455133
|
A | G | 14 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-51+3521T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34455133 | ||||||
| chr21:34455182
|
T | TA | 8 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(5): Show | 8 | HG00140.hp1 HG01106.hp2 HG02300.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+3471dupT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34455182 | ||||||
| chr21:34456103
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-51+2551T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456103 | ||||||
| chr21:34456172
|
C | G | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+2482G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456172 | ||||||
| chr21:34456586
|
T | C | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-51+2068A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456586 | ||||||
| chr21:34456772
|
C | A | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+1882G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456772 | ||||||
| chr21:34456921
|
C | T | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+1733G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456921 | ||||||
| chr21:34456936
|
G | T | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+1718C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34456936 | ||||||
| chr21:34457315
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-51+1339C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457315 | ||||||
| chr21:34457378
|
C | A | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-51+1276G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457378 | ||||||
| chr21:34457484
|
T | C | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+1170A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457484 | ||||||
| chr21:34457560
|
A | G | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-51+1094T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457560 | ||||||
| chr21:34457587
|
G | T | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+1067C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457587 | ||||||
| chr21:34457596
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-51+1058G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457596 | ||||||
| chr21:34457935
|
C | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-51+719G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457935 | ||||||
| chr21:34457954
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-51+700G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34457954 | ||||||
| chr21:34458137
|
A | ACT | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+515_-51+516dup others(2): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458137 | ||||||
| chr21:34458137
|
A | ACTCT | 6 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.-51+513_-51+516dup others(4): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458137 | ||||||
| chr21:34458142
|
A | C | 2 | a0002c0002t0003g0005a0002c0002t0006g0001 | 2 | HG00140.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.-51+512T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458142 | ||||||
| chr21:34458150
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-51+504T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458150 | ||||||
| chr21:34458152
|
G | A | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-51+502C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458152 | ||||||
| chr21:34458583
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-51+71A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 3/3 | chr21 | 34458583 | ||||||
| chr21:34459204
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-440A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459204 | ||||||
| chr21:34459261
|
T | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-497A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459261 | ||||||
| chr21:34459268
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-161-504C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459268 | ||||||
| chr21:34459330
|
A | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-566T>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459330 | ||||||
| chr21:34459517
|
A | C | 17 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 17 | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.-161-753T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459517 | ||||||
| chr21:34459639
|
C | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-875G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459639 | ||||||
| chr21:34459645
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-881T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459645 | ||||||
| chr21:34459754
|
G | GC | 4 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | HG01433.hp1 HG02300.hp2 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-161-991dupG | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459754 | ||||||
| chr21:34459978
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-1214G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34459978 | ||||||
| chr21:34460037
|
G | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-1273C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460037 | ||||||
| chr21:34460387
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-1623T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460387 | ||||||
| chr21:34460431
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-1667G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460431 | ||||||
| chr21:34460580
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-1816G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460580 | ||||||
| chr21:34460764
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-2000C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460764 | ||||||
| chr21:34460827
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-2063G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460827 | ||||||
| chr21:34460886
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-2122A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460886 | ||||||
| chr21:34460915
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-2151G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34460915 | ||||||
| chr21:34461245
|
G | A | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-161-2481C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34461245 | ||||||
| chr21:34461848
|
T | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-3084A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34461848 | ||||||
| chr21:34462029
|
C | T | 13 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-161-3265G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462029 | ||||||
| chr21:34462103
|
G | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-3339C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462103 | ||||||
| chr21:34462332
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-3568T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462332 | ||||||
| chr21:34462416
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-3652T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462416 | ||||||
| chr21:34462446
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-3682C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462446 | ||||||
| chr21:34462885
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-4121G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462885 | ||||||
| chr21:34462934
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-4170G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34462934 | ||||||
| chr21:34463232
|
C | CT | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-161-4469dupA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463232 | ||||||
| chr21:34463291
|
C | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-161-4527G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463291 | ||||||
| chr21:34463337
|
C | T | 13 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-161-4573G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463337 | ||||||
| chr21:34463347
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-4583G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463347 | ||||||
| chr21:34463482
|
T | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-4718A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463482 | ||||||
| chr21:34463657
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-4893G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463657 | ||||||
| chr21:34463823
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-5059A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463823 | ||||||
| chr21:34463859
|
T | A | 13 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-161-5095A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34463859 | ||||||
| chr21:34464210
|
G | C | 2 | a0002c0002t0003g0005a0002c0002t0006g0001 | 2 | HG00140.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.-161-5446C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34464210 | ||||||
| chr21:34464301
|
G | A | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-161-5537C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34464301 | ||||||
| chr21:34464400
|
A | G | 16 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(13): Show | 16 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.-161-5636T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34464400 | ||||||
| chr21:34464815
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-6051T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34464815 | ||||||
| chr21:34465508
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-6744G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34465508 | ||||||
| chr21:34465627
|
G | A | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-6863C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34465627 | ||||||
| chr21:34465965
|
A | C | 1 | a0001c0001t0005g0017 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-161-7201T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34465965 | ||||||
| chr21:34466235
|
T | C | 16 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(13): Show | 16 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.-161-7471A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466235 | ||||||
| chr21:34466504
|
G | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-161-7740C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466504 | ||||||
| chr21:34466609
|
G | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-161-7845C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466609 | ||||||
| chr21:34466769
|
C | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8005G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466769 | ||||||
| chr21:34466831
|
G | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8067C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466831 | ||||||
| chr21:34466843
|
C | G | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8079G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466843 | ||||||
| chr21:34466903
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-8139T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466903 | ||||||
| chr21:34466936
|
G | A | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8172C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466936 | ||||||
| chr21:34466976
|
T | C | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8212A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34466976 | ||||||
| chr21:34467101
|
C | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8337G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34467101 | ||||||
| chr21:34467325
|
C | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-161-8561G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34467325 | ||||||
| chr21:34467539
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-8775G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34467539 | ||||||
| chr21:34467665
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-8901G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34467665 | ||||||
| chr21:34467948
|
C | CA | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-9185dupT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34467948 | ||||||
| chr21:34468110
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-9346G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34468110 | ||||||
| chr21:34468601
|
C | T | 4 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | HG01433.hp1 HG02300.hp2 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-161-9837G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34468601 | ||||||
| chr21:34468722
|
C | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-9958G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34468722 | ||||||
| chr21:34468888
|
T | C | 10 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(7): Show | 10 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(7): Show |
intron_variant | MODIFIER | c.-161-10124A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34468888 | ||||||
| chr21:34469002
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0004others(2): Show | 5 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-10238C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34469002 | ||||||
| chr21:34469030
|
A | AAAAC | 5 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0004others(2): Show | 5 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-10270_-161-10 others(10): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34469030 | ||||||
| chr21:34469030
|
A | AAAACAAA others(5): Show |
4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-10278_-161-10 others(18): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34469030 | ||||||
| chr21:34469264
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0004others(2): Show | 5 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-10500C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34469264 | ||||||
| chr21:34469442
|
C | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-10678G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34469442 | ||||||
| chr21:34471876
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-13112T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34471876 | ||||||
| chr21:34472070
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-161-13306C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34472070 | ||||||
| chr21:34472602
|
T | C | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-13838A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34472602 | ||||||
| chr21:34472837
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-14073G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34472837 | ||||||
| chr21:34473187
|
G | C | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-14423C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34473187 | ||||||
| chr21:34473347
|
A | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-14583T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34473347 | ||||||
| chr21:34473473
|
G | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-14709C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34473473 | ||||||
| chr21:34473525
|
C | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.-161-14761G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34473525 | ||||||
| chr21:34473733
|
C | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-14969G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34473733 | ||||||
| chr21:34474060
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-15296T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34474060 | ||||||
| chr21:34474306
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-15542C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34474306 | ||||||
| chr21:34474916
|
G | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-16152C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34474916 | ||||||
| chr21:34475705
|
T | A | 1 | a0001c0001t0001g0011 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-161-16941A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34475705 | ||||||
| chr21:34475841
|
GA | G | 9 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(6): Show | 9 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(6): Show |
intron_variant | MODIFIER | c.-161-17078delT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34475841 | ||||||
| chr21:34475842
|
A | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-17078T>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34475842 | ||||||
| chr21:34476412
|
A | G | 5 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0004others(2): Show | 5 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-17648T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34476412 | ||||||
| chr21:34476612
|
T | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-17848A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34476612 | ||||||
| chr21:34476674
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-17910C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34476674 | ||||||
| chr21:34476749
|
T | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(2): Show | 5 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-17985A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34476749 | ||||||
| chr21:34477023
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-18259G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34477023 | ||||||
| chr21:34477049
|
C | CAT | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-18287_-161-18 others(8): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34477049 | ||||||
| chr21:34477107
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-18343G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34477107 | ||||||
| chr21:34477452
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-18688C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34477452 | ||||||
| chr21:34477700
|
C | G | 2 | a0001c0001t0008g0018a0002c0002t0007g0006 | 2 | HG02717.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-161-18936G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34477700 | ||||||
| chr21:34478004
|
A | G | 12 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(9): Show |
intron_variant | MODIFIER | c.-161-19240T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34478004 | ||||||
| chr21:34478447
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-161-19683C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34478447 | ||||||
| chr21:34479031
|
A | G | 10 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(7): Show | 10 | HG00140.hp1 HG01433.hp1 HG02300.hp2 others(7): Show |
intron_variant | MODIFIER | c.-161-20267T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479031 | ||||||
| chr21:34479063
|
A | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(2): Show | 5 | HG01433.hp1 HG02300.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.-161-20299T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479063 | ||||||
| chr21:34479312
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-20548C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479312 | ||||||
| chr21:34479588
|
T | C | 1 | a0001c0001t0002g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-161-20824A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479588 | ||||||
| chr21:34479749
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-20985G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479749 | ||||||
| chr21:34479750
|
A | G | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG01433.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-20986T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34479750 | ||||||
| chr21:34480236
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-21472T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480236 | ||||||
| chr21:34480383
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-21619G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480383 | ||||||
| chr21:34480537
|
C | CT | 3 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0002g0004 | 3 | HG02717.hp2 HG03704.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-161-21774dupA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480537 | ||||||
| chr21:34480537
|
CT | C | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG01106.hp2 HG01433.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.-161-21774delA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480537 | ||||||
| chr21:34480591
|
G | A | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-161-21827C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480591 | ||||||
| chr21:34480746
|
A | T | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-161-21982T>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480746 | ||||||
| chr21:34480878
|
T | C | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-22114A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480878 | ||||||
| chr21:34480905
|
T | G | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-161-22141A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34480905 | ||||||
| chr21:34481330
|
T | C | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-161-22566A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481330 | ||||||
| chr21:34481451
|
G | A | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-161-22687C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481451 | ||||||
| chr21:34481467
|
A | C | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-22703T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481467 | ||||||
| chr21:34481480
|
C | CAAAAAAA others(10): Show |
1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-161-22733_-161-22 others(23): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481480 | ||||||
| chr21:34481480
|
CA | C | 3 | a0001c0001t0002g0003a0002c0002t0003g0005a0002c0002t0006g0001 | 3 | HG00140.hp2 HG01433.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.-161-22717delT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481480 | ||||||
| chr21:34481480
|
CAA | C | 3 | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0005g0017 | 3 | HG03704.hp1 HG04228.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.-161-22718_-161-22 others(8): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481480 | ||||||
| chr21:34481601
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-22837C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34481601 | ||||||
| chr21:34482259
|
C | CA | 3 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0002g0004 | 3 | HG00140.hp1 HG02717.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.-161-23496dupT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34482259 | ||||||
| chr21:34482259
|
CA | C | 4 | a0001c0001t0001g0016a0001c0001t0002g0003a0001c0001t0008g0018others(1): Show | 4 | HG02300.hp1 HG02717.hp1 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-23496delT | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34482259 | ||||||
| chr21:34482301
|
T | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-23537A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34482301 | ||||||
| chr21:34482560
|
G | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-23796C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34482560 | ||||||
| chr21:34482997
|
A | G | 2 | a0001c0001t0008g0018a0002c0002t0007g0006 | 2 | HG02717.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-161-24233T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34482997 | ||||||
| chr21:34483078
|
A | T | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-161-24314T>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34483078 | ||||||
| chr21:34483297
|
C | T | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-161-24533G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34483297 | ||||||
| chr21:34483345
|
A | G | 10 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(7): Show | 10 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(7): Show |
intron_variant | MODIFIER | c.-161-24581T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34483345 | ||||||
| chr21:34483447
|
T | C | 8 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-161-24683A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34483447 | ||||||
| chr21:34483454
|
T | A | 1 | a0001c0001t0002g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-161-24690A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34483454 | ||||||
| chr21:34484015
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-25251G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484015 | ||||||
| chr21:34484206
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-25442G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484206 | ||||||
| chr21:34484346
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-161-25582G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484346 | ||||||
| chr21:34484348
|
T | C | 1 | a0001c0001t0002g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-161-25584A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484348 | ||||||
| chr21:34484593
|
C | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-161-25829G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484593 | ||||||
| chr21:34484853
|
A | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG00140.hp1 HG03704.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.-161-26089T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34484853 | ||||||
| chr21:34485007
|
G | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+26094C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485007 | ||||||
| chr21:34485356
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+25745G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485356 | ||||||
| chr21:34485402
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(8): Show | 11 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(8): Show |
intron_variant | MODIFIER | c.-162+25699A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485402 | ||||||
| chr21:34485452
|
T | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+25649A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485452 | ||||||
| chr21:34485545
|
C | A | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+25556G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485545 | ||||||
| chr21:34485799
|
G | A | 2 | a0001c0001t0008g0018a0002c0002t0007g0006 | 2 | HG02717.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-162+25302C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34485799 | ||||||
| chr21:34486356
|
G | C | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+24745C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34486356 | ||||||
| chr21:34486915
|
G | A | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+24186C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34486915 | ||||||
| chr21:34487035
|
G | GT | 3 | a0001c0001t0002g0003a0001c0001t0005g0017a0002c0002t0007g0006 | 3 | HG02300.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-162+24065dupA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34487035 | ||||||
| chr21:34487444
|
G | A | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+23657C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34487444 | ||||||
| chr21:34487524
|
A | C | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+23577T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34487524 | ||||||
| chr21:34487889
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+23212G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34487889 | ||||||
| chr21:34488185
|
C | T | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+22916G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488185 | ||||||
| chr21:34488221
|
T | C | 2 | a0001c0001t0008g0018a0002c0002t0007g0006 | 2 | HG02717.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-162+22880A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488221 | ||||||
| chr21:34488354
|
T | C | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+22747A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488354 | ||||||
| chr21:34488359
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-162+22742G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488359 | ||||||
| chr21:34488646
|
A | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+22455T>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488646 | ||||||
| chr21:34488832
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+22269T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488832 | ||||||
| chr21:34488943
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+22158G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34488943 | ||||||
| chr21:34489419
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+21682T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34489419 | ||||||
| chr21:34489494
|
G | A | 1 | a0001c0001t0008g0018 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-162+21607C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34489494 | ||||||
| chr21:34490397
|
G | A | 1 | a0001c0001t0001g0011 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-162+20704C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34490397 | ||||||
| chr21:34491033
|
G | A | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+20068C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491033 | ||||||
| chr21:34491092
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0004others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+20009G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491092 | ||||||
| chr21:34491125
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+19976G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491125 | ||||||
| chr21:34491138
|
TAA | T | 6 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(3): Show | 6 | HG01433.hp1 HG02300.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.-162+19961_-162+19 others(8): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491138 | ||||||
| chr21:34491138
|
TAAAA | T | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(2): Show | 5 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162+19959_-162+19 others(10): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491138 | ||||||
| chr21:34491138
|
TAAAAAAA others(3): Show |
T | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+19953_-162+19 others(16): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491138 | ||||||
| chr21:34491138
|
TAAAAAAA others(4): Show |
T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+19952_-162+19 others(17): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491138 | ||||||
| chr21:34491437
|
G | GT | 4 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | HG01433.hp1 HG02300.hp2 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+19663dupA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491437 | ||||||
| chr21:34491591
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+19510C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34491591 | ||||||
| chr21:34492155
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+18946C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34492155 | ||||||
| chr21:34492527
|
T | C | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+18574A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34492527 | ||||||
| chr21:34492531
|
T | A | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+18570A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34492531 | ||||||
| chr21:34492808
|
G | GT | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+18292dupA | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34492808 | ||||||
| chr21:34494967
|
C | T | 8 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0003others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-162+16134G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34494967 | ||||||
| chr21:34495307
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+15794G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34495307 | ||||||
| chr21:34495510
|
C | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+15591G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34495510 | ||||||
| chr21:34495644
|
C | G | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+15457G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34495644 | ||||||
| chr21:34495846
|
T | C | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+15255A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34495846 | ||||||
| chr21:34496068
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+15033G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34496068 | ||||||
| chr21:34496324
|
T | C | 10 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0015others(7): Show | 10 | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(7): Show |
intron_variant | MODIFIER | c.-162+14777A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34496324 | ||||||
| chr21:34496812
|
G | A | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+14289C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34496812 | ||||||
| chr21:34497422
|
T | A | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+13679A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34497422 | ||||||
| chr21:34497427
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+13674G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34497427 | ||||||
| chr21:34499081
|
C | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-162+12020G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499081 | ||||||
| chr21:34499142
|
G | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+11959C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499142 | ||||||
| chr21:34499437
|
A | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+11664T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499437 | ||||||
| chr21:34499581
|
C | A | 8 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0003others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-162+11520G>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499581 | ||||||
| chr21:34499723
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+11378G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499723 | ||||||
| chr21:34499765
|
A | C | 1 | a0001c0001t0001g0007 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-162+11336T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499765 | ||||||
| chr21:34499847
|
C | T | 9 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(6): Show | 9 | HG01106.hp1 HG01106.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.-162+11254G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34499847 | ||||||
| chr21:34500065
|
C | T | 8 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0003others(5): Show | 8 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.-162+11036G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34500065 | ||||||
| chr21:34501851
|
A | G | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+9250T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34501851 | ||||||
| chr21:34502115
|
T | C | 1 | a0001c0001t0001g0014 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-162+8986A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34502115 | ||||||
| chr21:34503832
|
G | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+7269C>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34503832 | ||||||
| chr21:34504140
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+6961G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34504140 | ||||||
| chr21:34505386
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+5715G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34505386 | ||||||
| chr21:34505414
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+5687G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34505414 | ||||||
| chr21:34505794
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+5307G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34505794 | ||||||
| chr21:34506970
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+4131G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34506970 | ||||||
| chr21:34507052
|
T | G | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-162+4049A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34507052 | ||||||
| chr21:34507084
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+4017G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34507084 | ||||||
| chr21:34507774
|
G | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+3327C>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34507774 | ||||||
| chr21:34507918
|
C | G | 1 | a0001c0001t0001g0015 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-162+3183G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34507918 | ||||||
| chr21:34508218
|
A | G | 9 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0003others(6): Show | 9 | HG00140.hp1 HG00140.hp2 HG01433.hp2 others(6): Show |
intron_variant | MODIFIER | c.-162+2883T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34508218 | ||||||
| chr21:34508303
|
T | C | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005others(1): Show | 4 | HG00140.hp2 HG02300.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162+2798A>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34508303 | ||||||
| chr21:34508588
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+2513G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34508588 | ||||||
| chr21:34508819
|
T | G | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+2282A>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34508819 | ||||||
| chr21:34509137
|
C | T | 1 | a0002c0002t0007g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162+1964G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34509137 | ||||||
| chr21:34510732
|
G | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0005g0017others(1): Show | 4 | HG00140.hp1 HG01433.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162+369C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34510732 | ||||||
| chr21:34510766
|
G | A | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+335C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34510766 | ||||||
| chr21:34510787
|
A | G | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-162+314T>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34510787 | ||||||
| chr21:34511033
|
G | A | 1 | a0002c0002t0003g0005 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-162+68C>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 2/3 | chr21 | 34511033 | ||||||
| chr21:34511445
|
T | A | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-376-130A>T | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 1/3 | chr21 | 34511445 | ||||||
| chr21:34511446
|
C | G | 3 | a0001c0001t0002g0003a0001c0001t0002g0004a0002c0002t0003g0005 | 3 | HG00140.hp2 HG02300.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-376-131G>C | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 1/3 | chr21 | 34511446 | ||||||
| chr21:34511469
|
A | C | 1 | a0001c0001t0001g0002 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-376-154T>G | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 1/3 | chr21 | 34511469 | ||||||
| chr21:34511546
|
C | T | 1 | a0002c0002t0006g0001 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-376-231G>A | KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 1/3 | chr21 | 34511546 |