Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 23784 |
|---|---|
| ensemblid | ENSG00000198062.16 |
| hgncid | 133 |
| symbol | POTEH |
| name | POTE ankyrin domain family member H |
| refseq_nuc | NM_001136213.1 |
| refseq_prot | NP_001129685.1 |
| ensembl_nuc | ENST00000343518.11 |
| ensembl_prot | ENSP00000340610.6 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 15690026 |
| end | 15721631 |
| strand | + |
| ver | v1.2 |
| region | chr22:15690026-15721631 |
| region5000 | chr22:15685026-15726631 |
| regionname0 | POTEH_chr22_15690026_15721631 |
| regionname5000 | POTEH_chr22_15685026_15726631 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 545 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0002 | 0/0 | 545 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0003 | 0/0 | 582 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1749 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| c0002 | 1/0 | 1638 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| c0003 | 0/0 | 1638 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 1/0 | 1638 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0002c0003 | 0/0 | 1638 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0003c0001 | 0/0 | 1749 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 1/0 | 2036 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0002c0003t0001 | 0/0 | 2036 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| a0003c0001t0002 | 0/0 | 2147 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | copy fasta | chr22 | 15685026 | 15726631 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| a0002c0003t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| a0003c0001t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NA21309 | hp1 | a0003 | c0001 | t0002 | g0003 | AFR | LWK | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| NA21309 | hp2 | a0002 | c0003 | t0001 | g0001 | AFR | LWK | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0002 | REF | REF | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:15690174
|
G | C | 1 | a0003 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.97G>C | p.Ala33Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 149/2037 | 97/1638 | 33/545 | chr22 | 15690174 | ||
| chr22:15690273
|
T | C | 1 | a0003 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.196T>C | p.Cys66Arg | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 248/2037 | 196/1638 | 66/545 | chr22 | 15690273 | ||
| chr22:15690401
|
C | CTGCAGGG others(104): Show |
1 | a0003 | 1 | NA21309.hp1 | disruptive_inframe_insertion | MODERATE | c.347_348insGGTGGGCA others(103): Show |
p.Ser115_Asn116insLy others(109): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 400/2037 | 348/1638 | 116/545 | INFO_REALIGN_3_PRIME | chr22 | 15690401 | |
| chr22:15690532
|
A | G | 1 | a0003 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.455A>G | p.Asn152Ser | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 507/2037 | 455/1638 | 152/545 | chr22 | 15690532 | ||
| chr22:15695450
|
A | G | 1 | a0002 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.712A>G | p.Ile238Val | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/11 | 764/2037 | 712/1638 | 238/545 | chr22 | 15695450 | ||
| chr22:15695784
|
T | C | 1 | a0003 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.887T>C | p.Leu296Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/11 | 939/2037 | 887/1638 | 296/545 | chr22 | 15695784 | ||
| chr22:15702725
|
A | G | 2 | a0002a0003 | 2 | NA21309.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.1206A>G | p.Ile402Met | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/11 | 1258/2037 | 1206/1638 | 402/545 | chr22 | 15702725 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:15690341
|
T | C | 1 | a0003c0001 | 1 | NA21309.hp1 | synonymous_variant | LOW | c.264T>C | p.Asp88Asp | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 316/2037 | 264/1638 | 88/545 | chr22 | 15690341 | ||
| chr22:15695401
|
A | G | 1 | a0002c0003 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.663A>G | p.Gly221Gly | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/11 | 715/2037 | 663/1638 | 221/545 | chr22 | 15695401 | ||
| chr22:15695704
|
G | A | 1 | a0002c0003 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.807G>A | p.Pro269Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/11 | 859/2037 | 807/1638 | 269/545 | chr22 | 15695704 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:15690058
|
T | C | 1 | a0003c0001t0002 | 1 | NA21309.hp1 | 5_prime_UTR_variant | MODIFIER | c.-20T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 20 | chr22 | 15690058 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:15690774
|
C | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+65C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690774 | ||||||
| chr22:15690800
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+91T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690800 | ||||||
| chr22:15690807
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+98A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690807 | ||||||
| chr22:15690914
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+205C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690914 | ||||||
| chr22:15690924
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+215T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690924 | ||||||
| chr22:15690936
|
G | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+227G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690936 | ||||||
| chr22:15690970
|
G | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+261G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690970 | ||||||
| chr22:15691331
|
T | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+622T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691331 | ||||||
| chr22:15691450
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+741T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691450 | ||||||
| chr22:15691451
|
G | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+742G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691451 | ||||||
| chr22:15691492
|
G | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+783G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691492 | ||||||
| chr22:15691494
|
A | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+785A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691494 | ||||||
| chr22:15691495
|
G | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.632+786G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691495 | ||||||
| chr22:15691764
|
C | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1055C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691764 | ||||||
| chr22:15691820
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1111T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691820 | ||||||
| chr22:15691981
|
G | GATATATA others(185): Show |
1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1275_632+1276i others(194): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | 15691981 | |||||
| chr22:15691985
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1276C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691985 | ||||||
| chr22:15692075
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1366A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692075 | ||||||
| chr22:15692162
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1453A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692162 | ||||||
| chr22:15692243
|
G | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.632+1534G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692243 | ||||||
| chr22:15692294
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1585C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692294 | ||||||
| chr22:15692421
|
G | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1712G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692421 | ||||||
| chr22:15692613
|
C | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1904C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692613 | ||||||
| chr22:15692762
|
A | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2053A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692762 | ||||||
| chr22:15692767
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2058A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692767 | ||||||
| chr22:15692769
|
C | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2060C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692769 | ||||||
| chr22:15692908
|
A | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2199A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692908 | ||||||
| chr22:15693106
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-2265C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693106 | ||||||
| chr22:15693700
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-1671A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693700 | ||||||
| chr22:15693909
|
T | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-1462T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693909 | ||||||
| chr22:15694278
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.633-1093A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694278 | ||||||
| chr22:15694521
|
A | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-850A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694521 | ||||||
| chr22:15694524
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-847T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694524 | ||||||
| chr22:15694663
|
C | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-708C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694663 | ||||||
| chr22:15694706
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-665T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694706 | ||||||
| chr22:15694784
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-587G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694784 | ||||||
| chr22:15694937
|
C | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-434C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694937 | ||||||
| chr22:15694946
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-425T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694946 | ||||||
| chr22:15695210
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-161A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695210 | ||||||
| chr22:15695271
|
C | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-100C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695271 | ||||||
| chr22:15695299
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-72G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695299 | ||||||
| chr22:15695363
|
C | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | splice_region_variant&intron_variant | LOW | c.633-8C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695363 | ||||||
| chr22:15695500
|
A | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+15A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695500 | ||||||
| chr22:15695506
|
T | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+21T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695506 | ||||||
| chr22:15695515
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+30A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695515 | ||||||
| chr22:15695975
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.921+157T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15695975 | ||||||
| chr22:15696006
|
GTT | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.921+200_921+201del others(2): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr22 | 15696006 | |||||
| chr22:15696106
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+288A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696106 | ||||||
| chr22:15696196
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+378T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696196 | ||||||
| chr22:15696375
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.921+557G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696375 | ||||||
| chr22:15696413
|
T | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+595T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696413 | ||||||
| chr22:15696429
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+611A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696429 | ||||||
| chr22:15696755
|
A | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.921+937A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696755 | ||||||
| chr22:15696863
|
C | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.921+1045C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696863 | ||||||
| chr22:15697033
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.921+1215A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697033 | ||||||
| chr22:15697150
|
G | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+1332G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697150 | ||||||
| chr22:15697164
|
A | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.921+1346A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697164 | ||||||
| chr22:15697469
|
T | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.922-1193T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697469 | ||||||
| chr22:15697481
|
G | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.922-1181G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697481 | ||||||
| chr22:15697540
|
T | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.922-1122T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697540 | ||||||
| chr22:15697541
|
T | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.922-1121T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697541 | ||||||
| chr22:15697708
|
CTATCAGG others(5): Show |
C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.922-941_922-930del others(12): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr22 | 15697708 | |||||
| chr22:15697880
|
A | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.922-782A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697880 | ||||||
| chr22:15698123
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.922-539G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15698123 | ||||||
| chr22:15698895
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1028+127C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15698895 | ||||||
| chr22:15699016
|
A | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1028+248A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15699016 | ||||||
| chr22:15699563
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-515C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15699563 | ||||||
| chr22:15699703
|
G | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1029-375G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15699703 | ||||||
| chr22:15700032
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-46A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15700032 | ||||||
| chr22:15700040
|
A | C | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-38A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15700040 | ||||||
| chr22:15700322
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+107A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700322 | ||||||
| chr22:15700329
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+114T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700329 | ||||||
| chr22:15700331
|
T | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1166+116T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700331 | ||||||
| chr22:15700341
|
C | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+126C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700341 | ||||||
| chr22:15700749
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+534G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700749 | ||||||
| chr22:15701074
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+859T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701074 | ||||||
| chr22:15701426
|
A | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1166+1211A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701426 | ||||||
| chr22:15701490
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-1196T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701490 | ||||||
| chr22:15701681
|
A | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-1005A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701681 | ||||||
| chr22:15701803
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-883A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701803 | ||||||
| chr22:15701842
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-844G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701842 | ||||||
| chr22:15701918
|
A | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-768A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701918 | ||||||
| chr22:15702111
|
C | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-575C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702111 | ||||||
| chr22:15702430
|
T | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-256T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702430 | ||||||
| chr22:15702479
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-207A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702479 | ||||||
| chr22:15702581
|
T | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1167-105T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702581 | ||||||
| chr22:15702617
|
C | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-69C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702617 | ||||||
| chr22:15703232
|
G | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+476G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15703232 | ||||||
| chr22:15703650
|
C | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+894C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15703650 | ||||||
| chr22:15703694
|
C | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+938C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15703694 | ||||||
| chr22:15703890
|
C | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+1134C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15703890 | ||||||
| chr22:15704181
|
G | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+1425G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704181 | ||||||
| chr22:15704277
|
C | T | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1237+1521C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704277 | ||||||
| chr22:15704433
|
A | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+1677A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704433 | ||||||
| chr22:15704567
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+1811T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704567 | ||||||
| chr22:15704954
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+2198T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704954 | ||||||
| chr22:15705355
|
T | TTG | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+2600_1237+260 others(6): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr22 | 15705355 | |||||
| chr22:15705361
|
T | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1237+2605T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705361 | ||||||
| chr22:15705455
|
C | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2565C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705455 | ||||||
| chr22:15705477
|
T | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2543T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705477 | ||||||
| chr22:15705997
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2023A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705997 | ||||||
| chr22:15706376
|
G | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-1644G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15706376 | ||||||
| chr22:15707016
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-1004A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707016 | ||||||
| chr22:15707164
|
G | A | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-856G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707164 | ||||||
| chr22:15707284
|
T | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1238-736T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707284 | ||||||
| chr22:15707475
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1238-545A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707475 | ||||||
| chr22:15707882
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-138A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707882 | ||||||
| chr22:15708134
|
A | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+44A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708134 | ||||||
| chr22:15708158
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+68A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708158 | ||||||
| chr22:15708184
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1308+94T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708184 | ||||||
| chr22:15708364
|
A | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+274A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708364 | ||||||
| chr22:15708479
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+389G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708479 | ||||||
| chr22:15708497
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1308+407A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708497 | ||||||
| chr22:15708778
|
T | C | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1308+688T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708778 | ||||||
| chr22:15708946
|
GTTAAAGA others(11): Show |
G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-833_1309-816d others(20): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr22 | 15708946 | |||||
| chr22:15708998
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-784T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708998 | ||||||
| chr22:15709249
|
G | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-533G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709249 | ||||||
| chr22:15709335
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-447G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709335 | ||||||
| chr22:15709358
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-424A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709358 | ||||||
| chr22:15709482
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-300T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709482 | ||||||
| chr22:15709582
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-200G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709582 | ||||||
| chr22:15709668
|
A | G | 1 | a0003c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1309-114A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709668 | ||||||
| chr22:15709852
|
C | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+26C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15709852 | ||||||
| chr22:15710038
|
A | G | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+212A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710038 | ||||||
| chr22:15710048
|
G | A | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+222G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710048 | ||||||
| chr22:15710248
|
A | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+422A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710248 | ||||||
| chr22:15710405
|
A | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1354-463A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710405 | ||||||
| chr22:15710425
|
T | C | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1354-443T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710425 | ||||||
| chr22:15710496
|
G | T | 1 | a0002c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1354-372G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710496 | ||||||
| chr22:15711737
|
G | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1520+703G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15711737 | ||||||
| chr22:15712910
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1520+1876G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15712910 | ||||||
| chr22:15714196
|
C | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1520+3162C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15714196 | ||||||
| chr22:15715669
|
G | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-3991G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15715669 | ||||||
| chr22:15716435
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-3225G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15716435 | ||||||
| chr22:15716551
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-3109G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15716551 | ||||||
| chr22:15717128
|
GAT | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-2521_1521-252 others(6): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr22 | 15717128 | |||||
| chr22:15717296
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-2364G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15717296 | ||||||
| chr22:15717462
|
T | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-2198T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | chr22 | 15717462 | ||||||
| chr22:15717650
|
GT | G | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1521-2004delT | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr22 | 15717650 | |||||
| chr22:15720256
|
G | A | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.*1+478G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 10/10 | chr22 | 15720256 | ||||||
| chr22:15720773
|
C | T | 2 | a0002c0003t0001g0001a0003c0001t0002g0003 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.*2-513C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 10/10 | chr22 | 15720773 |