Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 7179 |
|---|---|
| ensemblid | ENSG00000274391.5 |
| hgncid | 12023 |
| symbol | TPTE |
| name | transmembrane phosphatase with tensin homology |
| refseq_nuc | NM_199261.4 |
| refseq_prot | NP_954870.3 |
| ensembl_nuc | ENST00000618007.5 |
| ensembl_prot | ENSP00000484403.1 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 10521583 |
| end | 10605716 |
| strand | + |
| ver | v1.2 |
| region | chr21:10521583-10605716 |
| region5000 | chr21:10516583-10610716 |
| regionname0 | TPTE_chr21_10521583_10605716 |
| regionname5000 | TPTE_chr21_10516583_10610716 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 551 | 98 | 21 | 16 | 45 | 4 | 12 | 36 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0002 | 0/0 | 551 | 41 | 0 | 5 | 33 | 1 | 2 | 26 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0003 | 0/0 | 551 | 27 | 1 | 4 | 19 | 0 | 3 | 17 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0004 | 0/0 | 551 | 13 | 0 | 9 | 0 | 1 | 3 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0005 | 0/0 | 551 | 11 | 3 | 2 | 4 | 0 | 2 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0006 | 0/0 | 551 | 3 | 0 | 0 | 3 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0007 | 0/0 | 551 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0008 | 0/0 | 551 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0009 | 0/0 | 551 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0010 | 0/0 | 551 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0011 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0012 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0013 | 0/0 | 551 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0014 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0015 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0016 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0017 | 1/0 | 551 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0018 | 0/0 | 551 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0019 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0020 | 0/0 | 551 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1656 | 63 | 10 | 14 | 25 | 4 | 10 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0002 | 0/0 | 1656 | 41 | 0 | 5 | 33 | 1 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0003 | 0/0 | 1656 | 31 | 10 | 2 | 17 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0004 | 0/0 | 1656 | 27 | 1 | 4 | 19 | 0 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0005 | 0/0 | 1656 | 13 | 0 | 9 | 0 | 1 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0006 | 0/0 | 1656 | 11 | 3 | 2 | 4 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0007 | 0/0 | 1656 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0008 | 0/0 | 1656 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0009 | 0/0 | 1656 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0010 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0011 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0012 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0013 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0014 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0015 | 0/0 | 1656 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0016 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0017 | 0/0 | 1656 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0018 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0019 | 1/0 | 1656 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0020 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0021 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0022 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0023 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0024 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| c0025 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| 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 | 487 | 57 | 0 | 15 | 35 | 2 | 5 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0002 | 0/0 | 486 | 50 | 15 | 4 | 27 | 0 | 4 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0003 | 0/0 | 487 | 41 | 2 | 6 | 28 | 0 | 5 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0004 | 0/0 | 487 | 38 | 9 | 5 | 14 | 4 | 6 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0005 | 0/0 | 487 | 15 | 0 | 8 | 5 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0006 | 0/0 | 486 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0007 | 0/0 | 487 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0008 | 0/0 | 487 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0009 | 0/0 | 487 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0010 | 1/0 | 487 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| t0011 | 0/0 | 486 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| 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 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0006 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0007 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0008 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0136 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0164 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1656 | 63 | 10 | 14 | 25 | 4 | 10 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0003 | 0/0 | 1656 | 31 | 10 | 2 | 17 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0010 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0012 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0020 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0023 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0002c0002 | 0/0 | 1656 | 41 | 0 | 5 | 33 | 1 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0003c0004 | 0/0 | 1656 | 27 | 1 | 4 | 19 | 0 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0004c0005 | 0/0 | 1656 | 13 | 0 | 9 | 0 | 1 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0005c0006 | 0/0 | 1656 | 11 | 3 | 2 | 4 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0006c0007 | 0/0 | 1656 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0007c0008 | 0/0 | 1656 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0008c0009 | 0/0 | 1656 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0009c0025 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0010c0015 | 0/0 | 1656 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0011c0016 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0012c0014 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0013c0017 | 0/0 | 1656 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0014c0018 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0015c0013 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0016c0011 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0017c0019 | 1/0 | 1656 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0018c0021 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0019c0022 | 0/0 | 1656 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0020c0024 | 0/0 | 1656 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2142 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0001t0003 | 0/0 | 2142 | 10 | 0 | 2 | 6 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0001t0004 | 0/0 | 2142 | 35 | 8 | 5 | 12 | 4 | 6 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0001t0005 | 0/0 | 2142 | 13 | 0 | 7 | 4 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0001t0006 | 0/0 | 2141 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0003t0002 | 0/0 | 2141 | 30 | 10 | 2 | 16 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0003t0011 | 0/0 | 2141 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0010t0002 | 0/0 | 2141 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0012t0002 | 0/0 | 2141 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0020t0005 | 0/0 | 2142 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0001c0023t0003 | 0/0 | 2142 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0002c0002t0001 | 0/0 | 2142 | 39 | 0 | 5 | 31 | 1 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0002c0002t0007 | 0/0 | 2142 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0003c0004t0003 | 0/0 | 2142 | 27 | 1 | 4 | 19 | 0 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0004c0005t0001 | 0/0 | 2142 | 13 | 0 | 9 | 0 | 1 | 3 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0005c0006t0002 | 0/0 | 2141 | 11 | 3 | 2 | 4 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0006c0007t0002 | 0/0 | 2141 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0007c0008t0004 | 0/0 | 2142 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0008c0009t0008 | 0/0 | 2142 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0008c0009t0009 | 0/0 | 2142 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0009c0025t0002 | 0/0 | 2141 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0010c0015t0001 | 0/0 | 2142 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0011c0016t0001 | 0/0 | 2142 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0012c0014t0002 | 0/0 | 2141 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0013c0017t0005 | 0/0 | 2142 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0014c0018t0003 | 0/0 | 2142 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0015c0013t0002 | 0/0 | 2141 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0016c0011t0002 | 0/0 | 2141 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0017c0019t0010 | 1/0 | 2142 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0018c0021t0003 | 0/0 | 2142 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0019c0022t0003 | 0/0 | 2142 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| a0020c0024t0004 | 0/0 | 2142 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | copy fasta | chr21 | 10516583 | 10610716 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0006 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0007 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0008 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0004g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0005g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0006g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0001t0006g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0003t0011g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0010t0002g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0012t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0020t0005g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0001c0023t0003g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0002c0002t0007g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0003c0004t0003g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0004c0005t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0005c0006t0002g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0006c0007t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0006c0007t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0006c0007t0002g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0007c0008t0004g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0007c0008t0004g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0008c0009t0008g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0008c0009t0009g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0009c0025t0002g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0010c0015t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0011c0016t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0012c0014t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0013c0017t0005g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0014c0018t0003g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0015c0013t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0016c0011t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0017c0019t0010g0136 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0018c0021t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0019c0022t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| a0020c0024t0004g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0002 | c0002 | t0001 | g0174 | EUR | GBR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00099 | hp2 | a0001 | c0001 | t0004 | g0070 | EUR | GBR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00423 | hp1 | a0001 | c0003 | t0002 | g0111 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00423 | hp2 | a0002 | c0002 | t0001 | g0010 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00544 | hp1 | a0002 | c0002 | t0001 | g0146 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00544 | hp2 | a0001 | c0003 | t0002 | g0100 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00597 | hp1 | a0001 | c0003 | t0002 | g0001 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00597 | hp2 | a0002 | c0002 | t0001 | g0152 | EAS | CHS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00733 | hp1 | a0001 | c0001 | t0004 | g0083 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00733 | hp2 | a0001 | c0001 | t0005 | g0048 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00738 | hp1 | a0002 | c0002 | t0001 | g0196 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00738 | hp2 | a0001 | c0001 | t0004 | g0008 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00741 | hp1 | a0001 | c0001 | t0005 | g0053 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG00741 | hp2 | a0004 | c0005 | t0001 | g0161 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01099 | hp1 | a0003 | c0004 | t0003 | g0032 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01099 | hp2 | a0004 | c0005 | t0001 | g0162 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01169 | hp1 | a0001 | c0003 | t0002 | g0128 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01169 | hp2 | a0001 | c0001 | t0004 | g0065 | AMR | PUR | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01256 | hp1 | a0001 | c0001 | t0004 | g0068 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01256 | hp2 | a0005 | c0006 | t0002 | g0131 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01257 | hp1 | a0004 | c0005 | t0001 | g0191 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01257 | hp2 | a0001 | c0001 | t0005 | g0051 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01258 | hp1 | a0001 | c0001 | t0005 | g0052 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01258 | hp2 | a0001 | c0001 | t0004 | g0069 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01346 | hp1 | a0005 | c0006 | t0002 | g0132 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01346 | hp2 | a0004 | c0005 | t0001 | g0145 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01358 | hp1 | a0013 | c0017 | t0005 | g0055 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01358 | hp2 | a0002 | c0002 | t0001 | g0195 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01361 | hp1 | a0001 | c0001 | t0005 | g0050 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01361 | hp2 | a0002 | c0002 | t0001 | g0180 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01496 | hp1 | a0001 | c0003 | t0002 | g0120 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01496 | hp2 | a0004 | c0005 | t0001 | g0178 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01516 | hp1 | a0001 | c0001 | t0004 | g0007 | EUR | IBS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01516 | hp2 | a0001 | c0001 | t0004 | g0008 | EUR | IBS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01517 | hp1 | a0001 | c0001 | t0004 | g0007 | EUR | IBS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01517 | hp2 | a0004 | c0005 | t0001 | g0164 | EUR | IBS | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01928 | hp1 | a0004 | c0005 | t0001 | g0155 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01928 | hp2 | a0001 | c0001 | t0003 | g0022 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01943 | hp1 | a0003 | c0004 | t0003 | g0095 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01943 | hp2 | a0004 | c0005 | t0001 | g0154 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01993 | hp1 | a0001 | c0001 | t0005 | g0043 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01993 | hp2 | a0010 | c0015 | t0001 | g0156 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02004 | hp1 | a0002 | c0002 | t0001 | g0149 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02004 | hp2 | a0001 | c0001 | t0003 | g0021 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02027 | hp1 | a0001 | c0001 | t0004 | g0084 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02027 | hp2 | a0002 | c0002 | t0001 | g0163 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0167 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02040 | hp2 | a0001 | c0003 | t0002 | g0101 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02056 | hp1 | a0011 | c0016 | t0001 | g0184 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02056 | hp2 | a0006 | c0007 | t0002 | g0144 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02071 | hp1 | a0006 | c0007 | t0002 | g0139 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02071 | hp2 | a0003 | c0004 | t0003 | g0045 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02083 | hp1 | a0002 | c0002 | t0001 | g0153 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02083 | hp2 | a0003 | c0004 | t0003 | g0060 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02129 | hp1 | a0001 | c0010 | t0002 | g0114 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02129 | hp2 | a0001 | c0001 | t0004 | g0066 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02132 | hp1 | a0005 | c0006 | t0002 | g0142 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02132 | hp2 | a0002 | c0002 | t0001 | g0151 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02135 | hp1 | a0007 | c0008 | t0004 | g0074 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | KHV | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0189 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02273 | hp2 | a0003 | c0004 | t0003 | g0096 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02280 | hp1 | a0001 | c0003 | t0002 | g0009 | AFR | ACB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02280 | hp2 | a0001 | c0003 | t0002 | g0137 | AFR | ACB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02300 | hp1 | a0004 | c0005 | t0001 | g0187 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02300 | hp2 | a0001 | c0001 | t0005 | g0047 | AMR | PEL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02602 | hp1 | a0002 | c0002 | t0001 | g0171 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02602 | hp2 | a0002 | c0002 | t0001 | g0190 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02630 | hp1 | a0001 | c0003 | t0002 | g0127 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02630 | hp2 | a0001 | c0001 | t0004 | g0077 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02647 | hp1 | a0001 | c0001 | t0004 | g0094 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02647 | hp2 | a0001 | c0012 | t0002 | g0129 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02683 | hp1 | a0001 | c0001 | t0004 | g0089 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02683 | hp2 | a0001 | c0003 | t0002 | g0117 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02698 | hp1 | a0001 | c0001 | t0003 | g0042 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02698 | hp2 | a0005 | c0006 | t0002 | g0197 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02717 | hp1 | a0005 | c0006 | t0002 | g0133 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02717 | hp2 | a0008 | c0009 | t0008 | g0016 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02735 | hp1 | a0004 | c0005 | t0001 | g0185 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02735 | hp2 | a0003 | c0004 | t0003 | g0026 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02886 | hp1 | a0001 | c0003 | t0002 | g0122 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0099 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0076 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02895 | hp2 | a0001 | c0003 | t0002 | g0126 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02897 | hp1 | a0001 | c0003 | t0002 | g0123 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0075 | AFR | GWD | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03017 | hp1 | a0001 | c0001 | t0003 | g0041 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03017 | hp2 | a0001 | c0001 | t0004 | g0081 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03098 | hp1 | a0001 | c0003 | t0002 | g0124 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03098 | hp2 | a0001 | c0001 | t0004 | g0012 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03195 | hp1 | a0001 | c0001 | t0004 | g0078 | AFR | ESN | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03195 | hp2 | a0005 | c0006 | t0002 | g0130 | AFR | ESN | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03225 | hp1 | a0009 | c0025 | t0002 | g0119 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03225 | hp2 | a0001 | c0003 | t0002 | g0125 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03490 | hp1 | a0001 | c0001 | t0005 | g0017 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03490 | hp2 | a0001 | c0001 | t0004 | g0079 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03491 | hp1 | a0003 | c0004 | t0003 | g0018 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03491 | hp2 | a0005 | c0006 | t0002 | g0141 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03516 | hp1 | a0020 | c0024 | t0004 | g0088 | AFR | ESN | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03516 | hp2 | a0001 | c0003 | t0002 | g0009 | AFR | ESN | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03654 | hp1 | a0001 | c0001 | t0004 | g0006 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03654 | hp2 | a0004 | c0005 | t0001 | g0150 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03669 | hp1 | a0004 | c0005 | t0001 | g0147 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03669 | hp2 | a0001 | c0001 | t0005 | g0014 | SAS | PJL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03688 | hp1 | a0001 | c0003 | t0002 | g0109 | SAS | STU | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03688 | hp2 | a0001 | c0001 | t0004 | g0067 | SAS | STU | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03927 | hp1 | a0001 | c0001 | t0004 | g0006 | SAS | BEB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03927 | hp2 | a0003 | c0004 | t0003 | g0039 | SAS | BEB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18612 | hp1 | a0005 | c0006 | t0002 | g0134 | EAS | CHB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18612 | hp2 | a0001 | c0003 | t0002 | g0108 | EAS | CHB | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18940 | hp1 | a0001 | c0003 | t0002 | g0103 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18940 | hp2 | a0001 | c0001 | t0004 | g0087 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18941 | hp1 | a0001 | c0001 | t0004 | g0072 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18941 | hp2 | a0012 | c0014 | t0002 | g0104 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18942 | hp1 | a0001 | c0001 | t0005 | g0019 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18942 | hp2 | a0006 | c0007 | t0002 | g0143 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18945 | hp1 | a0001 | c0023 | t0003 | g0028 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18945 | hp2 | a0001 | c0003 | t0002 | g0001 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18948 | hp1 | a0001 | c0001 | t0003 | g0029 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18948 | hp2 | a0002 | c0002 | t0001 | g0194 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18949 | hp1 | a0003 | c0004 | t0003 | g0005 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18953 | hp1 | a0003 | c0004 | t0003 | g0054 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18953 | hp2 | a0001 | c0003 | t0002 | g0107 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18954 | hp1 | a0001 | c0001 | t0004 | g0082 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18954 | hp2 | a0003 | c0004 | t0003 | g0044 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18956 | hp1 | a0002 | c0002 | t0001 | g0170 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18956 | hp2 | a0001 | c0001 | t0004 | g0086 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18957 | hp2 | a0001 | c0001 | t0004 | g0085 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18963 | hp1 | a0003 | c0004 | t0003 | g0035 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18963 | hp2 | a0001 | c0003 | t0002 | g0115 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18964 | hp1 | a0002 | c0002 | t0001 | g0165 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18964 | hp2 | a0001 | c0003 | t0002 | g0102 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18967 | hp1 | a0001 | c0003 | t0002 | g0116 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18967 | hp2 | a0001 | c0001 | t0004 | g0093 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18969 | hp1 | a0002 | c0002 | t0001 | g0173 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18969 | hp2 | a0003 | c0004 | t0003 | g0005 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18970 | hp1 | a0002 | c0002 | t0001 | g0177 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18970 | hp2 | a0001 | c0001 | t0004 | g0091 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18971 | hp1 | a0001 | c0001 | t0004 | g0092 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18971 | hp2 | a0001 | c0001 | t0004 | g0090 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18973 | hp1 | a0001 | c0003 | t0011 | g0112 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18973 | hp2 | a0001 | c0001 | t0003 | g0063 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18974 | hp1 | a0002 | c0002 | t0001 | g0158 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18974 | hp2 | a0003 | c0004 | t0003 | g0013 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18975 | hp1 | a0003 | c0004 | t0003 | g0059 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18975 | hp2 | a0001 | c0003 | t0002 | g0001 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18981 | hp1 | a0002 | c0002 | t0001 | g0010 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18981 | hp2 | a0003 | c0004 | t0003 | g0040 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18982 | hp1 | a0014 | c0018 | t0003 | g0024 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18982 | hp2 | a0002 | c0002 | t0001 | g0175 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18993 | hp1 | a0001 | c0001 | t0003 | g0030 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18993 | hp2 | a0002 | c0002 | t0001 | g0172 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0179 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18995 | hp2 | a0016 | c0011 | t0002 | g0105 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18997 | hp1 | a0002 | c0002 | t0001 | g0168 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18997 | hp2 | a0019 | c0022 | t0003 | g0064 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19000 | hp1 | a0001 | c0001 | t0003 | g0004 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19000 | hp2 | a0001 | c0003 | t0002 | g0118 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19002 | hp1 | a0002 | c0002 | t0001 | g0192 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19002 | hp2 | a0003 | c0004 | t0003 | g0036 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19003 | hp1 | a0001 | c0001 | t0005 | g0020 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19003 | hp2 | a0002 | c0002 | t0001 | g0186 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19004 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0061 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19005 | hp1 | a0001 | c0001 | t0005 | g0062 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19005 | hp2 | a0015 | c0013 | t0002 | g0110 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19006 | hp1 | a0003 | c0004 | t0003 | g0058 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19006 | hp2 | a0001 | c0003 | t0002 | g0098 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19010 | hp1 | a0003 | c0004 | t0003 | g0031 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19010 | hp2 | a0002 | c0002 | t0001 | g0176 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19011 | hp1 | a0001 | c0001 | t0005 | g0004 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19011 | hp2 | a0007 | c0008 | t0004 | g0073 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19043 | hp1 | a0005 | c0006 | t0002 | g0138 | AFR | LWK | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19043 | hp2 | a0001 | c0001 | t0006 | g0097 | AFR | LWK | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19055 | hp1 | a0003 | c0004 | t0003 | g0037 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19055 | hp2 | a0002 | c0002 | t0001 | g0148 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19056 | hp1 | a0002 | c0002 | t0007 | g0003 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19056 | hp2 | a0003 | c0004 | t0003 | g0034 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19057 | hp1 | a0003 | c0004 | t0003 | g0057 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19057 | hp2 | a0002 | c0002 | t0001 | g0169 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19064 | hp1 | a0002 | c0002 | t0007 | g0003 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19064 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0181 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19067 | hp2 | a0001 | c0020 | t0005 | g0049 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19072 | hp1 | a0002 | c0002 | t0001 | g0160 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19072 | hp2 | a0005 | c0006 | t0002 | g0135 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19081 | hp1 | a0002 | c0002 | t0001 | g0183 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19081 | hp2 | a0003 | c0004 | t0003 | g0027 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19082 | hp1 | a0001 | c0003 | t0002 | g0106 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19082 | hp2 | a0003 | c0004 | t0003 | g0033 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19085 | hp1 | a0001 | c0003 | t0002 | g0113 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19085 | hp2 | a0002 | c0002 | t0001 | g0166 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19086 | hp1 | a0003 | c0004 | t0003 | g0056 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19086 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19090 | hp1 | a0001 | c0001 | t0003 | g0023 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA19090 | hp2 | a0002 | c0002 | t0001 | g0193 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01123 | hp1 | a0004 | c0005 | t0001 | g0157 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG01123 | hp2 | a0003 | c0004 | t0003 | g0025 | AMR | CLM | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03471 | hp1 | a0008 | c0009 | t0009 | g0015 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG03471 | hp2 | a0001 | c0001 | t0004 | g0071 | AFR | MSL | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG06807 | hp1 | a0003 | c0004 | t0003 | g0038 | AFR | USA | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| HG06807 | hp2 | a0001 | c0003 | t0002 | g0121 | AFR | USA | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18955 | hp1 | a0005 | c0006 | t0002 | g0140 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA18955 | hp2 | a0001 | c0001 | t0004 | g0080 | EAS | JPT | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA21309 | hp1 | a0018 | c0021 | t0003 | g0046 | AFR | LWK | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| NA21309 | hp2 | a0001 | c0001 | t0004 | g0011 | AFR | LWK | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| homoSapiens_grch38 | hp1 | a0017 | c0019 | t0010 | g0136 | REF | REF | TPTE_chr21_10516583_10610716 | TPTE | chr21 | 10516583 | 10610716 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:10541120
|
C | T | 1 | a0009 | 1 | HG03225.hp1 | missense_variant | MODERATE | c.20C>T | p.Pro7Leu | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/24 | 342/2142 | 20/1656 | 7/551 | chr21 | 10541120 | ||
| chr21:10543334
|
A | T | 1 | a0020 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.125A>T | p.His42Leu | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/24 | 447/2142 | 125/1656 | 42/551 | chr21 | 10543334 | ||
| chr21:10552668
|
G | A | 1 | a0010 | 1 | HG01993.hp2 | missense_variant | MODERATE | c.185G>A | p.Arg62Gln | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/24 | 507/2142 | 185/1656 | 62/551 | chr21 | 10552668 | ||
| chr21:10552686
|
T | A | 1 | a0011 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.203T>A | p.Val68Asp | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/24 | 525/2142 | 203/1656 | 68/551 | chr21 | 10552686 | ||
| chr21:10561065
|
C | G | 1 | a0012 | 1 | NA18941.hp2 | missense_variant | MODERATE | c.320C>G | p.Thr107Ser | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/24 | 642/2142 | 320/1656 | 107/551 | chr21 | 10561065 | ||
| chr21:10561079
|
G | A | 1 | a0006 | 3 | HG02056.hp2 HG02071.hp1 NA18942.hp2 |
missense_variant | MODERATE | c.334G>A | p.Asp112Asn | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/24 | 656/2142 | 334/1656 | 112/551 | chr21 | 10561079 | ||
| chr21:10561184
|
G | A | 1 | a0013 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.439G>A | p.Val147Ile | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/24 | 761/2142 | 439/1656 | 147/551 | chr21 | 10561184 | ||
| chr21:10569534
|
C | T | 2 | a0003a0019 | 28 | HG01099.hp1 HG01123.hp2 HG01943.hp1 others(25): Show |
missense_variant&splice_region_variant | MODERATE | c.664C>T | p.Arg222Trp | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 12/24 | 986/2142 | 664/1656 | 222/551 | chr21 | 10569534 | ||
| chr21:10577469
|
C | T | 1 | a0018 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.805C>T | p.Arg269Trp | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/24 | 1127/2142 | 805/1656 | 269/551 | chr21 | 10577469 | ||
| chr21:10577479
|
A | G | 1 | a0008 | 2 | HG02717.hp2 HG03471.hp1 |
missense_variant | MODERATE | c.815A>G | p.Asp272Gly | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/24 | 1137/2142 | 815/1656 | 272/551 | chr21 | 10577479 | ||
| chr21:10578378
|
G | A | 1 | a0014 | 1 | NA18982.hp1 | missense_variant | MODERATE | c.898G>A | p.Val300Ile | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 16/24 | 1220/2142 | 898/1656 | 300/551 | chr21 | 10578378 | ||
| chr21:10578533
|
A | G | 1 | a0019 | 1 | NA18997.hp2 | missense_variant | MODERATE | c.955A>G | p.Thr319Ala | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/24 | 1277/2142 | 955/1656 | 319/551 | chr21 | 10578533 | ||
| chr21:10590489
|
T | G | 1 | a0008 | 2 | HG02717.hp2 HG03471.hp1 |
missense_variant | MODERATE | c.1055T>G | p.Phe352Cys | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/24 | 1377/2142 | 1055/1656 | 352/551 | chr21 | 10590489 | ||
| chr21:10592359
|
A | G | 19 | a0001a0002a0003others(16): Show | 208 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(205): Show |
missense_variant | MODERATE | c.1156A>G | p.Lys386Glu | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/24 | 1478/2142 | 1156/1656 | 386/551 | chr21 | 10592359 | ||
| chr21:10596045
|
C | T | 1 | a0018 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.1234C>T | p.Arg412Trp | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/24 | 1556/2142 | 1234/1656 | 412/551 | chr21 | 10596045 | ||
| chr21:10602110
|
T | C | 17 | a0001a0002a0003others(14): Show | 194 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(191): Show |
missense_variant | MODERATE | c.1409T>C | p.Leu470Pro | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/24 | 1731/2142 | 1409/1656 | 470/551 | chr21 | 10602110 | ||
| chr21:10602146
|
A | C | 15 | a0001a0003a0005others(12): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
missense_variant | MODERATE | c.1445A>C | p.Tyr482Ser | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/24 | 1767/2142 | 1445/1656 | 482/551 | chr21 | 10602146 | ||
| chr21:10603571
|
A | G | 1 | a0015 | 1 | NA19005.hp2 | missense_variant | MODERATE | c.1459A>G | p.Thr487Ala | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/24 | 1781/2142 | 1459/1656 | 487/551 | chr21 | 10603571 | ||
| chr21:10605526
|
A | G | 1 | a0016 | 1 | NA18995.hp2 | missense_variant | MODERATE | c.1630A>G | p.Ser544Gly | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 24/24 | 1952/2142 | 1630/1656 | 544/551 | chr21 | 10605526 | ||
| chr21:10605542
|
G | A | 2 | a0005a0006 | 14 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(11): Show |
missense_variant | MODERATE | c.1646G>A | p.Gly549Glu | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 24/24 | 1968/2142 | 1646/1656 | 549/551 | chr21 | 10605542 | ||
| chr21:10605547
|
G | A | 2 | a0007a0019 | 3 | HG02135.hp1 NA18997.hp2 NA19011.hp2 |
missense_variant | MODERATE | c.1651G>A | p.Asp551Asn | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 24/24 | 1973/2142 | 1651/1656 | 551/551 | chr21 | 10605547 | ||
| chr21:10605716
|
A | C | 7 | a0001a0005a0006others(4): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
splice_region_variant | LOW | c.*164A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 24/24 | chr21 | 10605716 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:10542440
|
G | A | 9 | a0001c0003a0001c0010a0001c0012others(6): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
synonymous_variant | LOW | c.111G>A | p.Ala37Ala | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/24 | 433/2142 | 111/1656 | 37/551 | chr21 | 10542440 | ||
| chr21:10561078
|
C | T | 1 | a0001c0023 | 1 | NA18945.hp1 | synonymous_variant | LOW | c.333C>T | p.Ala111Ala | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/24 | 655/2142 | 333/1656 | 111/551 | chr21 | 10561078 | ||
| chr21:10577501
|
T | C | 1 | a0001c0010 | 1 | HG02129.hp1 | synonymous_variant | LOW | c.837T>C | p.Tyr279Tyr | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/24 | 1159/2142 | 837/1656 | 279/551 | chr21 | 10577501 | ||
| chr21:10602147
|
T | C | 1 | a0001c0020 | 1 | NA19067.hp2 | synonymous_variant | LOW | c.1446T>C | p.Tyr482Tyr | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/24 | 1768/2142 | 1446/1656 | 482/551 | chr21 | 10602147 | ||
| chr21:10605468
|
G | A | 8 | a0001c0003a0001c0010a0005c0006others(5): Show | 50 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
synonymous_variant | LOW | c.1572G>A | p.Arg524Arg | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 24/24 | 1894/2142 | 1572/1656 | 524/551 | chr21 | 10605468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:10521658
|
G | C | 9 | a0001c0001t0003a0001c0001t0005a0001c0020t0005others(6): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
5_prime_UTR_variant | MODIFIER | c.-247G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/24 | 17066 | chr21 | 10521658 | |||||
| chr21:10521673
|
T | A | 5 | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(2): Show | 57 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(54): Show |
5_prime_UTR_variant | MODIFIER | c.-232T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/24 | 17051 | chr21 | 10521673 | |||||
| chr21:10521677
|
C | A | 2 | a0008c0009t0008a0008c0009t0009 | 2 | HG02717.hp2 HG03471.hp1 |
5_prime_UTR_variant | MODIFIER | c.-228C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/24 | 17047 | chr21 | 10521677 | |||||
| chr21:10524592
|
C | T | 1 | a0002c0002t0007 | 2 | NA19056.hp1 NA19064.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-198C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/24 | chr21 | 10524592 | ||||||
| chr21:10524595
|
C | T | 1 | a0008c0009t0009 | 1 | HG03471.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-195C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/24 | chr21 | 10524595 | ||||||
| chr21:10524654
|
C | A | 21 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | 157 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(154): Show |
5_prime_UTR_variant | MODIFIER | c.-136C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/24 | 14070 | chr21 | 10524654 | |||||
| chr21:10524659
|
C | T | 1 | a0001c0003t0011 | 1 | NA18973.hp1 | 5_prime_UTR_variant | MODIFIER | c.-131C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/24 | 14065 | chr21 | 10524659 | |||||
| chr21:10527367
|
A | G | 3 | a0001c0001t0005a0001c0020t0005a0013c0017t0005 | 15 | HG00733.hp2 HG00741.hp1 HG01257.hp2 others(12): Show |
5_prime_UTR_variant | MODIFIER | c.-89A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/24 | 11357 | chr21 | 10527367 | |||||
| chr21:10527390
|
CT | C | 11 | a0001c0001t0006a0001c0003t0002a0001c0003t0011others(8): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
5_prime_UTR_variant | MODIFIER | c.-64delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/24 | 11332 | INFO_REALIGN_3_PRIME | chr21 | 10527390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:10521702
|
C | T | 55 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(52): Show | 58 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(55): Show |
splice_region_variant&intron_variant | LOW | c.-211+8C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521702 | ||||||
| chr21:10521712
|
G | A | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-211+18G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521712 | ||||||
| chr21:10521742
|
G | T | 1 | a0002c0002t0001g0196 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-211+48G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521742 | ||||||
| chr21:10521760
|
G | T | 54 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(51): Show | 57 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(54): Show |
intron_variant | MODIFIER | c.-211+66G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521760 | ||||||
| chr21:10521806
|
A | C | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-211+112A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521806 | ||||||
| chr21:10521904
|
G | A | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-211+210G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521904 | ||||||
| chr21:10521932
|
T | C | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 154 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(151): Show |
intron_variant | MODIFIER | c.-211+238T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521932 | ||||||
| chr21:10521939
|
C | T | 6 | a0005c0006t0002g0140a0005c0006t0002g0141a0005c0006t0002g0142others(3): Show | 6 | HG02056.hp2 HG02071.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.-211+245C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521939 | ||||||
| chr21:10521989
|
T | C | 181 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(178): Show | 192 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(189): Show |
intron_variant | MODIFIER | c.-211+295T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10521989 | ||||||
| chr21:10522000
|
C | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-211+306C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522000 | ||||||
| chr21:10522029
|
G | A | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(55): Show |
intron_variant | MODIFIER | c.-211+335G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522029 | ||||||
| chr21:10522058
|
G | GC | 9 | a0001c0001t0004g0065a0001c0001t0004g0066a0001c0001t0005g0014others(6): Show | 9 | HG00544.hp1 HG01169.hp2 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.-211+370dupC | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr21 | 10522058 | |||||
| chr21:10522151
|
C | G | 32 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(29): Show | 35 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-211+457C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522151 | ||||||
| chr21:10522161
|
C | T | 1 | a0002c0002t0001g0148 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.-211+467C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522161 | ||||||
| chr21:10522164
|
G | C | 181 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(178): Show | 192 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(189): Show |
intron_variant | MODIFIER | c.-211+470G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522164 | ||||||
| chr21:10522540
|
G | A | 1 | a0002c0002t0001g0149 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-211+846G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522540 | ||||||
| chr21:10522542
|
C | T | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-211+848C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522542 | ||||||
| chr21:10522614
|
A | G | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-211+920A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522614 | ||||||
| chr21:10522675
|
G | A | 182 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(179): Show | 193 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(190): Show |
intron_variant | MODIFIER | c.-211+981G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522675 | ||||||
| chr21:10522725
|
A | G | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-211+1031A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522725 | ||||||
| chr21:10522748
|
A | C | 13 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0009others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.-211+1054A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522748 | ||||||
| chr21:10522837
|
T | C | 182 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(179): Show | 193 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(190): Show |
intron_variant | MODIFIER | c.-211+1143T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522837 | ||||||
| chr21:10522882
|
A | G | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-211+1188A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10522882 | ||||||
| chr21:10523258
|
C | T | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.-210-1322C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523258 | ||||||
| chr21:10523304
|
A | AT | 155 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(152): Show | 164 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(161): Show |
intron_variant | MODIFIER | c.-210-1268dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr21 | 10523304 | |||||
| chr21:10523312
|
T | TA | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-210-1267dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr21 | 10523312 | |||||
| chr21:10523326
|
T | A | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.-210-1254T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523326 | ||||||
| chr21:10523398
|
C | G | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-210-1182C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523398 | ||||||
| chr21:10523401
|
A | T | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-210-1179A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523401 | ||||||
| chr21:10523504
|
C | T | 1 | a0001c0003t0002g0128 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-210-1076C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523504 | ||||||
| chr21:10523506
|
T | G | 1 | a0004c0005t0001g0150 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-210-1074T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523506 | ||||||
| chr21:10523594
|
A | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-210-986A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523594 | ||||||
| chr21:10523595
|
A | G | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-210-985A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523595 | ||||||
| chr21:10523684
|
A | G | 1 | a0005c0006t0002g0138 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-210-896A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523684 | ||||||
| chr21:10523705
|
C | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-210-875C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523705 | ||||||
| chr21:10523706
|
A | G | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-210-874A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523706 | ||||||
| chr21:10523720
|
C | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-210-860C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523720 | ||||||
| chr21:10523862
|
G | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-210-718G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523862 | ||||||
| chr21:10523867
|
C | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.-210-713C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523867 | ||||||
| chr21:10523871
|
A | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-210-709A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523871 | ||||||
| chr21:10523999
|
T | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-210-581T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10523999 | ||||||
| chr21:10524117
|
C | T | 1 | a0001c0003t0002g0118 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.-210-463C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524117 | ||||||
| chr21:10524143
|
G | A | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.-210-437G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524143 | ||||||
| chr21:10524157
|
G | T | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-210-423G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524157 | ||||||
| chr21:10524179
|
T | C | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-210-401T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524179 | ||||||
| chr21:10524322
|
G | C | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-210-258G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524322 | ||||||
| chr21:10524322
|
G | T | 1 | a0001c0001t0003g0063 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-210-258G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524322 | ||||||
| chr21:10524507
|
A | G | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-210-73A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524507 | ||||||
| chr21:10524573
|
C | G | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | splice_region_variant&intron_variant | LOW | c.-210-7C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 1/23 | chr21 | 10524573 | ||||||
| chr21:10524979
|
T | G | 1 | a0001c0001t0005g0017 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-102+291T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10524979 | ||||||
| chr21:10525038
|
G | A | 3 | a0003c0004t0003g0018a0003c0004t0003g0095a0003c0004t0003g0096 | 3 | HG01943.hp1 HG02273.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.-102+350G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525038 | ||||||
| chr21:10525086
|
C | A | 1 | a0001c0003t0002g0009 | 2 | HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-102+398C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525086 | ||||||
| chr21:10525215
|
G | A | 1 | a0002c0002t0001g0151 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-102+527G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525215 | ||||||
| chr21:10525255
|
A | C | 55 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(52): Show | 59 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.-102+567A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525255 | ||||||
| chr21:10525400
|
C | G | 147 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(144): Show | 155 | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(152): Show |
intron_variant | MODIFIER | c.-102+712C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525400 | ||||||
| chr21:10525465
|
A | T | 1 | a0002c0002t0001g0195 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.-102+777A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525465 | ||||||
| chr21:10525478
|
C | T | 1 | a0002c0002t0001g0194 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.-102+790C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525478 | ||||||
| chr21:10525620
|
C | T | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.-102+932C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525620 | ||||||
| chr21:10525650
|
C | G | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-102+962C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525650 | ||||||
| chr21:10525747
|
C | T | 1 | a0002c0002t0001g0193 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.-102+1059C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525747 | ||||||
| chr21:10525852
|
A | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-102+1164A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525852 | ||||||
| chr21:10525863
|
G | A | 1 | a0001c0001t0005g0019 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-102+1175G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525863 | ||||||
| chr21:10525889
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-102+1201A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525889 | ||||||
| chr21:10525902
|
A | G | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-102+1214A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525902 | ||||||
| chr21:10525904
|
C | A | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-102+1216C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525904 | ||||||
| chr21:10525971
|
A | T | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-102+1283A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10525971 | ||||||
| chr21:10526003
|
G | T | 3 | a0005c0006t0002g0134a0005c0006t0002g0135a0005c0006t0002g0197 | 3 | HG02698.hp2 NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.-102+1315G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526003 | ||||||
| chr21:10526008
|
T | C | 1 | a0001c0001t0005g0020 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-102+1320T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526008 | ||||||
| chr21:10526058
|
CCT | C | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.-101-1296_-101-129 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526058 | ||||||
| chr21:10526076
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-101-1279T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526076 | ||||||
| chr21:10526077
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.-101-1278G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526077 | ||||||
| chr21:10526254
|
G | C | 4 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(1): Show | 4 | HG01928.hp2 HG02004.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-101-1101G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526254 | ||||||
| chr21:10526335
|
T | C | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.-101-1020T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526335 | ||||||
| chr21:10526466
|
T | G | 2 | a0003c0004t0003g0095a0003c0004t0003g0096 | 2 | HG01943.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.-101-889T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526466 | ||||||
| chr21:10526517
|
T | C | 1 | a0003c0004t0003g0025 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.-101-838T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526517 | ||||||
| chr21:10526737
|
G | C | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-101-618G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526737 | ||||||
| chr21:10526893
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-101-462C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526893 | ||||||
| chr21:10526960
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-101-395G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10526960 | ||||||
| chr21:10527126
|
T | A | 1 | a0005c0006t0002g0130 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-101-229T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527126 | ||||||
| chr21:10527133
|
C | CCT | 60 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(57): Show | 61 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(58): Show |
intron_variant | MODIFIER | c.-101-198_-101-197d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527133 | |||||
| chr21:10527135
|
T | C | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.-101-220T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527135 | ||||||
| chr21:10527149
|
T | TCA | 5 | a0005c0006t0002g0140a0005c0006t0002g0141a0005c0006t0002g0142others(2): Show | 5 | HG02071.hp1 HG02132.hp1 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.-101-205_-101-204i others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527149 | |||||
| chr21:10527149
|
T | TCACACA | 7 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0132others(4): Show | 7 | HG01346.hp1 HG02280.hp2 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.-101-205_-101-204i others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527149 | |||||
| chr21:10527149
|
T | TCACACAC others(3): Show |
2 | a0001c0012t0002g0129a0005c0006t0002g0131 | 2 | HG01256.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.-101-205_-101-204i others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527149 | |||||
| chr21:10527151
|
T | A | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-101-204T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527151 | ||||||
| chr21:10527153
|
T | A | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-101-202T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527153 | ||||||
| chr21:10527153
|
T | TCACACAC others(3): Show |
9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-101-201_-101-200i others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527153 | |||||
| chr21:10527153
|
T | TCACACAC others(7): Show |
1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-101-201_-101-200i others(16): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527153 | |||||
| chr21:10527155
|
T | A | 26 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(23): Show | 27 | HG01256.hp2 HG01346.hp1 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.-101-200T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527155 | ||||||
| chr21:10527155
|
T | TCACACAC others(3): Show |
1 | a0001c0003t0002g0128 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-101-199_-101-198i others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527155 | |||||
| chr21:10527155
|
T | TCACATAC others(1): Show |
21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.-101-199_-101-198i others(10): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527155 | |||||
| chr21:10527157
|
T | A | 50 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-101-198T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527157 | ||||||
| chr21:10527157
|
T | TCACA | 8 | a0001c0001t0006g0097a0001c0001t0006g0099a0002c0002t0001g0149others(5): Show | 8 | HG01123.hp1 HG01346.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.-101-187_-101-184d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527157 | |||||
| chr21:10527159
|
A | T | 1 | a0001c0001t0004g0093 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.-101-196A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | chr21 | 10527159 | ||||||
| chr21:10527172
|
G | GAC | 7 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(4): Show | 8 | HG01928.hp2 HG02004.hp2 HG03098.hp2 others(5): Show |
intron_variant | MODIFIER | c.-101-167_-101-166d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | 10527172 | |||||
| chr21:10527427
|
C | T | 1 | a0001c0003t0002g0009 | 2 | HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-44+15C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527427 | ||||||
| chr21:10527524
|
A | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.-44+112A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527524 | ||||||
| chr21:10527651
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+239G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527651 | ||||||
| chr21:10527662
|
G | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+250G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527662 | ||||||
| chr21:10527727
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+315C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527727 | ||||||
| chr21:10527735
|
G | C | 1 | a0003c0004t0003g0027 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-44+323G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527735 | ||||||
| chr21:10527848
|
TGAG | T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.-44+440_-44+442del others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10527848 | |||||
| chr21:10527958
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-44+546A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10527958 | ||||||
| chr21:10528018
|
T | TAAAG | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+608_-44+609ins others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10528018 | |||||
| chr21:10528200
|
C | CA | 110 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(107): Show | 114 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.-44+799dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10528200 | |||||
| chr21:10528200
|
C | CAA | 71 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0008others(68): Show | 78 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.-44+798_-44+799dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10528200 | |||||
| chr21:10528200
|
C | CAAA | 16 | a0001c0001t0006g0097a0001c0003t0002g0137a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-44+797_-44+799dup others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10528200 | |||||
| chr21:10528220
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+808A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528220 | ||||||
| chr21:10528298
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-44+886G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528298 | ||||||
| chr21:10528308
|
A | G | 1 | a0004c0005t0001g0191 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-44+896A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528308 | ||||||
| chr21:10528370
|
C | T | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.-44+958C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528370 | ||||||
| chr21:10528430
|
A | T | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-44+1018A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528430 | ||||||
| chr21:10528438
|
T | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.-44+1026T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528438 | ||||||
| chr21:10528517
|
G | A | 22 | a0001c0001t0005g0020a0001c0003t0002g0001a0001c0003t0002g0098others(19): Show | 24 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-44+1105G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528517 | ||||||
| chr21:10528641
|
T | C | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-44+1229T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528641 | ||||||
| chr21:10528877
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+1465G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528877 | ||||||
| chr21:10528924
|
A | G | 1 | a0002c0002t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-44+1512A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10528924 | ||||||
| chr21:10529012
|
C | T | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.-44+1600C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529012 | ||||||
| chr21:10529045
|
A | G | 50 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+1633A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529045 | ||||||
| chr21:10529183
|
C | CA | 93 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(90): Show | 98 | HG00099.hp2 HG00733.hp1 HG00733.hp2 others(95): Show |
intron_variant | MODIFIER | c.-44+1789dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10529183 | |||||
| chr21:10529183
|
CA | C | 7 | a0001c0001t0001g0188a0001c0001t0006g0099a0001c0012t0002g0129others(4): Show | 7 | HG02273.hp1 HG02300.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.-44+1789delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10529183 | |||||
| chr21:10529270
|
A | G | 3 | a0001c0001t0004g0066a0001c0001t0006g0097a0001c0001t0006g0099 | 3 | HG02129.hp2 HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-44+1858A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529270 | ||||||
| chr21:10529286
|
G | A | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.-44+1874G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529286 | ||||||
| chr21:10529474
|
C | T | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-44+2062C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529474 | ||||||
| chr21:10529494
|
C | A | 1 | a0002c0002t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-44+2082C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529494 | ||||||
| chr21:10529569
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.-44+2157C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529569 | ||||||
| chr21:10529619
|
A | G | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-44+2207A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529619 | ||||||
| chr21:10529808
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+2396T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529808 | ||||||
| chr21:10529892
|
C | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-44+2480C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529892 | ||||||
| chr21:10529914
|
A | AT | 46 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(43): Show | 49 | HG00423.hp1 HG00597.hp1 HG01169.hp1 others(46): Show |
intron_variant | MODIFIER | c.-44+2512dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10529914 | |||||
| chr21:10529924
|
T | A | 5 | a0001c0001t0004g0067a0001c0001t0004g0068a0001c0001t0004g0069others(2): Show | 5 | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44+2512T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529924 | ||||||
| chr21:10529925
|
A | T | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.-44+2513A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529925 | ||||||
| chr21:10529926
|
A | T | 2 | a0001c0003t0002g0009a0001c0003t0002g0127 | 3 | HG02280.hp1 HG02630.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-44+2514A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10529926 | ||||||
| chr21:10530086
|
T | C | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.-44+2674T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530086 | ||||||
| chr21:10530106
|
T | C | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.-44+2694T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530106 | ||||||
| chr21:10530313
|
A | G | 1 | a0020c0024t0004g0088 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-44+2901A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530313 | ||||||
| chr21:10530517
|
C | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.-44+3105C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530517 | ||||||
| chr21:10530518
|
G | A | 1 | a0002c0002t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-44+3106G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530518 | ||||||
| chr21:10530708
|
A | G | 1 | a0001c0001t0005g0062 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-44+3296A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10530708 | ||||||
| chr21:10531228
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-44+3816G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531228 | ||||||
| chr21:10531360
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+3948C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531360 | ||||||
| chr21:10531642
|
G | T | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-44+4230G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531642 | ||||||
| chr21:10531856
|
G | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.-44+4444G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531856 | ||||||
| chr21:10531874
|
G | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+4462G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531874 | ||||||
| chr21:10531882
|
G | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.-44+4470G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531882 | ||||||
| chr21:10531967
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+4555C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10531967 | ||||||
| chr21:10532072
|
A | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.-44+4660A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532072 | ||||||
| chr21:10532234
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+4822C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532234 | ||||||
| chr21:10532507
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-44+5095T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532507 | ||||||
| chr21:10532511
|
T | C | 1 | a0001c0003t0002g0101 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.-44+5099T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532511 | ||||||
| chr21:10532551
|
A | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-44+5139A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532551 | ||||||
| chr21:10532661
|
A | G | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-44+5249A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532661 | ||||||
| chr21:10532721
|
C | T | 1 | a0002c0002t0001g0186 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-44+5309C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532721 | ||||||
| chr21:10532810
|
A | G | 1 | a0006c0007t0002g0144 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-44+5398A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532810 | ||||||
| chr21:10532930
|
G | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.-44+5518G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10532930 | ||||||
| chr21:10533153
|
A | C | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-43-5528A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533153 | ||||||
| chr21:10533177
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-43-5504A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533177 | ||||||
| chr21:10533216
|
G | A | 1 | a0001c0003t0002g0009 | 2 | HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-43-5465G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533216 | ||||||
| chr21:10533216
|
G | T | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.-43-5465G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533216 | ||||||
| chr21:10533305
|
C | T | 1 | a0004c0005t0001g0185 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-43-5376C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533305 | ||||||
| chr21:10533359
|
T | G | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.-43-5322T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533359 | ||||||
| chr21:10533423
|
C | T | 1 | a0002c0002t0001g0192 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-43-5258C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533423 | ||||||
| chr21:10533729
|
C | T | 1 | a0001c0001t0003g0061 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-43-4952C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533729 | ||||||
| chr21:10533949
|
C | T | 1 | a0001c0001t0003g0063 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-43-4732C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533949 | ||||||
| chr21:10533981
|
A | T | 1 | a0004c0005t0001g0157 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-43-4700A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10533981 | ||||||
| chr21:10534005
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.-43-4676C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534005 | ||||||
| chr21:10534091
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-4590G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534091 | ||||||
| chr21:10534194
|
A | T | 1 | a0001c0001t0005g0014 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-43-4487A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534194 | ||||||
| chr21:10534473
|
A | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.-43-4208A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534473 | ||||||
| chr21:10534675
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.-43-4006T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534675 | ||||||
| chr21:10534775
|
C | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-43-3906C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534775 | ||||||
| chr21:10534832
|
C | T | 1 | a0001c0003t0002g0101 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.-43-3849C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10534832 | ||||||
| chr21:10535204
|
T | C | 1 | a0001c0003t0002g0102 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-43-3477T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535204 | ||||||
| chr21:10535336
|
C | T | 1 | a0001c0001t0004g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-43-3345C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535336 | ||||||
| chr21:10535368
|
A | G | 1 | a0001c0001t0004g0087 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.-43-3313A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535368 | ||||||
| chr21:10535454
|
G | A | 2 | a0001c0001t0001g0159a0002c0002t0001g0148 | 2 | HG02135.hp2 NA19055.hp2 |
intron_variant | MODIFIER | c.-43-3227G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535454 | ||||||
| chr21:10535530
|
G | A | 1 | a0001c0001t0003g0029 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.-43-3151G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535530 | ||||||
| chr21:10535548
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-3133C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535548 | ||||||
| chr21:10535627
|
A | G | 1 | a0011c0016t0001g0184 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-43-3054A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535627 | ||||||
| chr21:10535700
|
C | T | 1 | a0010c0015t0001g0156 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-43-2981C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10535700 | ||||||
| chr21:10536049
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-2632A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536049 | ||||||
| chr21:10536195
|
T | C | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.-43-2486T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536195 | ||||||
| chr21:10536255
|
G | A | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-43-2426G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536255 | ||||||
| chr21:10536622
|
A | G | 1 | a0002c0002t0001g0183 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.-43-2059A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536622 | ||||||
| chr21:10536660
|
T | G | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-43-2021T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536660 | ||||||
| chr21:10536661
|
G | A | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-43-2020G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536661 | ||||||
| chr21:10536690
|
A | G | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-43-1991A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536690 | ||||||
| chr21:10536868
|
G | A | 51 | a0001c0001t0004g0008a0001c0001t0006g0097a0001c0001t0006g0099others(48): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.-43-1813G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536868 | ||||||
| chr21:10536878
|
C | T | 51 | a0001c0001t0004g0008a0001c0001t0006g0097a0001c0001t0006g0099others(48): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.-43-1803C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536878 | ||||||
| chr21:10536921
|
C | T | 56 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(53): Show | 60 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.-43-1760C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536921 | ||||||
| chr21:10536939
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-1742C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536939 | ||||||
| chr21:10536976
|
C | T | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-43-1705C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10536976 | ||||||
| chr21:10537144
|
G | A | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-1537G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537144 | ||||||
| chr21:10537145
|
A | T | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-1536A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537145 | ||||||
| chr21:10537190
|
T | C | 142 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(139): Show | 149 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(146): Show |
intron_variant | MODIFIER | c.-43-1491T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537190 | ||||||
| chr21:10537393
|
T | C | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-43-1288T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537393 | ||||||
| chr21:10537403
|
C | G | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-1278C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537403 | ||||||
| chr21:10537477
|
C | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-1204C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537477 | ||||||
| chr21:10537505
|
C | T | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-43-1176C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537505 | ||||||
| chr21:10537523
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-43-1158A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537523 | ||||||
| chr21:10537534
|
C | T | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.-43-1147C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537534 | ||||||
| chr21:10537550
|
T | C | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-43-1131T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537550 | ||||||
| chr21:10537564
|
G | C | 1 | a0002c0002t0001g0193 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.-43-1117G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537564 | ||||||
| chr21:10537571
|
A | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-43-1110A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537571 | ||||||
| chr21:10537595
|
G | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-43-1086G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537595 | ||||||
| chr21:10537627
|
G | A | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-43-1054G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537627 | ||||||
| chr21:10537665
|
G | A | 15 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(12): Show | 16 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.-43-1016G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537665 | ||||||
| chr21:10537677
|
CA | C | 45 | a0001c0001t0004g0008a0001c0003t0002g0001a0001c0003t0002g0009others(42): Show | 49 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-43-989delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | 10537677 | |||||
| chr21:10537741
|
A | C | 8 | a0005c0006t0002g0132a0005c0006t0002g0133a0005c0006t0002g0140others(5): Show | 8 | HG01346.hp1 HG02056.hp2 HG02071.hp1 others(5): Show |
intron_variant | MODIFIER | c.-43-940A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537741 | ||||||
| chr21:10537819
|
A | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.-43-862A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10537819 | ||||||
| chr21:10538343
|
C | T | 2 | a0001c0001t0005g0017a0013c0017t0005g0055 | 2 | HG01358.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-43-338C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538343 | ||||||
| chr21:10538351
|
G | A | 1 | a0004c0005t0001g0187 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-43-330G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538351 | ||||||
| chr21:10538394
|
A | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-43-287A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538394 | ||||||
| chr21:10538483
|
C | A | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-198C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538483 | ||||||
| chr21:10538484
|
A | G | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-197A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538484 | ||||||
| chr21:10538485
|
G | C | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.-43-196G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538485 | ||||||
| chr21:10538642
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.-43-39G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538642 | ||||||
| chr21:10538659
|
A | G | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.-43-22A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538659 | ||||||
| chr21:10538670
|
A | T | 142 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(139): Show | 149 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(146): Show |
intron_variant | MODIFIER | c.-43-11A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | chr21 | 10538670 | ||||||
| chr21:10538749
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.11+15C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10538749 | ||||||
| chr21:10538816
|
A | C | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.11+82A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10538816 | ||||||
| chr21:10538957
|
C | T | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.11+223C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10538957 | ||||||
| chr21:10539127
|
A | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.11+393A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539127 | ||||||
| chr21:10539128
|
G | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.11+394G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539128 | ||||||
| chr21:10539174
|
CAGAA | C | 3 | a0001c0001t0004g0084a0001c0001t0004g0085a0001c0001t0004g0086 | 3 | HG02027.hp1 NA18956.hp2 NA18957.hp2 |
intron_variant | MODIFIER | c.11+443_11+446delAA others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr21 | 10539174 | |||||
| chr21:10539195
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.11+461A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539195 | ||||||
| chr21:10539249
|
A | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.11+515A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539249 | ||||||
| chr21:10539289
|
C | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.11+555C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539289 | ||||||
| chr21:10539306
|
C | T | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.11+572C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539306 | ||||||
| chr21:10539307
|
A | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.11+573A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539307 | ||||||
| chr21:10539353
|
G | GGATGCAG others(27): Show |
1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.11+620_11+653dupGA others(32): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr21 | 10539353 | |||||
| chr21:10539484
|
G | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.11+750G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539484 | ||||||
| chr21:10539549
|
T | C | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.11+815T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539549 | ||||||
| chr21:10539649
|
G | C | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11+915G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539649 | ||||||
| chr21:10539658
|
A | G | 1 | a0003c0004t0003g0054 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.11+924A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539658 | ||||||
| chr21:10539782
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.11+1048C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539782 | ||||||
| chr21:10539793
|
C | A | 2 | a0003c0004t0003g0018a0003c0004t0003g0026 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.11+1059C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10539793 | ||||||
| chr21:10540024
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.12-1088A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540024 | ||||||
| chr21:10540037
|
AAAAC | A | 17 | a0001c0001t0003g0004a0001c0001t0003g0029a0001c0001t0004g0008others(14): Show | 18 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.12-1071_12-1068del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr21 | 10540037 | |||||
| chr21:10540038
|
AAAC | A | 39 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(36): Show | 40 | HG01099.hp1 HG01123.hp2 HG01928.hp2 others(37): Show |
intron_variant | MODIFIER | c.12-1071_12-1069del others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr21 | 10540038 | |||||
| chr21:10540118
|
T | C | 1 | a0003c0004t0003g0013 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.12-994T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540118 | ||||||
| chr21:10540159
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.12-953T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540159 | ||||||
| chr21:10540173
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.12-939T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540173 | ||||||
| chr21:10540187
|
A | G | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.12-925A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540187 | ||||||
| chr21:10540212
|
C | G | 4 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122others(1): Show | 4 | HG01496.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.12-900C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540212 | ||||||
| chr21:10540233
|
A | G | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.12-879A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540233 | ||||||
| chr21:10540261
|
G | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.12-851G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540261 | ||||||
| chr21:10540506
|
C | T | 2 | a0001c0001t0004g0007a0001c0001t0004g0083 | 3 | HG00733.hp1 HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.12-606C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540506 | ||||||
| chr21:10540565
|
C | T | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.12-547C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540565 | ||||||
| chr21:10540616
|
G | A | 1 | a0001c0003t0002g0107 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.12-496G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540616 | ||||||
| chr21:10540660
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.12-452C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540660 | ||||||
| chr21:10540824
|
G | T | 1 | a0001c0001t0005g0014 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.12-288G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540824 | ||||||
| chr21:10540891
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12-221G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540891 | ||||||
| chr21:10540892
|
C | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.12-220C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540892 | ||||||
| chr21:10540932
|
G | C | 1 | a0004c0005t0001g0191 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.12-180G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10540932 | ||||||
| chr21:10541004
|
A | G | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.12-108A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10541004 | ||||||
| chr21:10541021
|
T | A | 4 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(1): Show | 4 | HG01928.hp2 HG02004.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.12-91T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10541021 | ||||||
| chr21:10541032
|
A | G | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.12-80A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | chr21 | 10541032 | ||||||
| chr21:10541043
|
CTG | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.12-67_12-66delGT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr21 | 10541043 | |||||
| chr21:10541186
|
A | G | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.65+21A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541186 | ||||||
| chr21:10541247
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.65+82C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541247 | ||||||
| chr21:10541414
|
A | G | 1 | a0005c0006t0002g0142 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.65+249A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541414 | ||||||
| chr21:10541432
|
C | T | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.65+267C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541432 | ||||||
| chr21:10541441
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.65+276C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541441 | ||||||
| chr21:10541479
|
A | G | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 56 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(53): Show |
intron_variant | MODIFIER | c.65+314A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541479 | ||||||
| chr21:10541494
|
G | GCA | 26 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(23): Show | 27 | HG01169.hp1 HG01256.hp2 HG01346.hp1 others(24): Show |
intron_variant | MODIFIER | c.65+344_65+345dupCA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr21 | 10541494 | |||||
| chr21:10541506
|
A | G | 20 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(17): Show | 22 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(19): Show |
intron_variant | MODIFIER | c.65+341A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541506 | ||||||
| chr21:10541510
|
A | G | 1 | a0004c0005t0001g0185 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.65+345A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541510 | ||||||
| chr21:10541808
|
G | A | 13 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0079others(10): Show | 14 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(11): Show |
intron_variant | MODIFIER | c.66-587G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10541808 | ||||||
| chr21:10542004
|
C | T | 6 | a0002c0002t0001g0149a0004c0005t0001g0145a0004c0005t0001g0154others(3): Show | 6 | HG01123.hp1 HG01346.hp2 HG01928.hp1 others(3): Show |
intron_variant | MODIFIER | c.66-391C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10542004 | ||||||
| chr21:10542038
|
G | C | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.66-357G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10542038 | ||||||
| chr21:10542107
|
A | G | 4 | a0001c0001t0006g0097a0001c0001t0006g0099a0008c0009t0008g0016others(1): Show | 4 | HG02717.hp2 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.66-288A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10542107 | ||||||
| chr21:10542370
|
A | G | 1 | a0001c0003t0002g0123 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.66-25A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | chr21 | 10542370 | ||||||
| chr21:10542449
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
splice_donor_variant&intron_variant | HIGH | c.119+1G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542449 | ||||||
| chr21:10542454
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
splice_region_variant&intron_variant | LOW | c.119+6C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542454 | ||||||
| chr21:10542530
|
C | CCCAT | 21 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(18): Show | 22 | HG00099.hp2 HG01099.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.119+111_119+114dup others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10542530 | |||||
| chr21:10542530
|
C | CCCATCCA others(1): Show |
26 | a0001c0001t0006g0097a0001c0003t0002g0001a0001c0003t0002g0009others(23): Show | 29 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.119+107_119+114dup others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10542530 | |||||
| chr21:10542530
|
C | CCCATCCA others(5): Show |
5 | a0001c0001t0006g0099a0001c0003t0002g0103a0001c0003t0002g0108others(2): Show | 5 | HG01169.hp1 HG02647.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.119+103_119+114dup others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10542530 | |||||
| chr21:10542530
|
CCCAT | C | 5 | a0001c0001t0004g0082a0001c0001t0004g0084a0001c0001t0004g0085others(2): Show | 5 | HG02027.hp1 HG02071.hp2 NA18954.hp1 others(2): Show |
intron_variant | MODIFIER | c.119+111_119+114del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10542530 | |||||
| chr21:10542543
|
CCATCCAT others(13): Show |
C | 1 | a0020c0024t0004g0088 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.119+115_119+134del others(20): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10542543 | |||||
| chr21:10542591
|
T | C | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.119+143T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542591 | ||||||
| chr21:10542936
|
T | C | 1 | a0001c0001t0005g0062 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.120-393T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542936 | ||||||
| chr21:10542978
|
G | C | 5 | a0001c0001t0003g0030a0003c0004t0003g0027a0003c0004t0003g0031others(2): Show | 5 | NA18993.hp1 NA19010.hp1 NA19056.hp2 others(2): Show |
intron_variant | MODIFIER | c.120-351G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542978 | ||||||
| chr21:10542992
|
G | A | 1 | a0018c0021t0003g0046 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.120-337G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542992 | ||||||
| chr21:10542999
|
C | T | 1 | a0001c0003t0002g0116 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.120-330C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10542999 | ||||||
| chr21:10543002
|
TCTGACTG others(291): Show |
T | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.120-310_120-13del | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10543002 | |||||
| chr21:10543014
|
C | CT | 44 | a0001c0001t0001g0188a0001c0001t0004g0065a0001c0001t0004g0087others(41): Show | 47 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.120-289dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10543014 | |||||
| chr21:10543014
|
C | CTT | 12 | a0001c0001t0001g0159a0001c0001t0001g0182a0002c0002t0001g0153others(9): Show | 12 | HG00738.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.120-290_120-289dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | 10543014 | |||||
| chr21:10543094
|
A | G | 1 | a0001c0001t0004g0081 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.120-235A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10543094 | ||||||
| chr21:10543191
|
A | G | 35 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0011others(32): Show | 38 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(35): Show |
intron_variant | MODIFIER | c.120-138A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10543191 | ||||||
| chr21:10543284
|
G | A | 1 | a0001c0001t0004g0084 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.120-45G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | chr21 | 10543284 | ||||||
| chr21:10543506
|
CACAA | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.173+131_173+134del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10543506 | |||||
| chr21:10543575
|
C | G | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.173+193C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10543575 | ||||||
| chr21:10543718
|
T | TAGTGTAT others(13): Show |
2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.173+337_173+356dup others(20): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10543718 | |||||
| chr21:10543790
|
T | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.173+408T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10543790 | ||||||
| chr21:10544094
|
C | A | 1 | a0001c0001t0004g0079 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.173+712C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544094 | ||||||
| chr21:10544139
|
T | A | 1 | a0003c0004t0003g0045 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.173+757T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544139 | ||||||
| chr21:10544163
|
T | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.173+781T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544163 | ||||||
| chr21:10544181
|
A | AAATG | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.173+801_173+804dup others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10544181 | |||||
| chr21:10544255
|
T | A | 1 | a0001c0001t0005g0047 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.173+873T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544255 | ||||||
| chr21:10544351
|
G | T | 1 | a0004c0005t0001g0187 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.173+969G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544351 | ||||||
| chr21:10544412
|
A | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.173+1030A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544412 | ||||||
| chr21:10544418
|
G | A | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.173+1036G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544418 | ||||||
| chr21:10544461
|
T | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.173+1079T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544461 | ||||||
| chr21:10544575
|
G | A | 1 | a0003c0004t0003g0035 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.173+1193G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544575 | ||||||
| chr21:10544586
|
A | G | 1 | a0003c0004t0003g0044 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.173+1204A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544586 | ||||||
| chr21:10544690
|
C | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.173+1308C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544690 | ||||||
| chr21:10544765
|
A | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.173+1383A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544765 | ||||||
| chr21:10544769
|
A | G | 1 | a0003c0004t0003g0032 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.173+1387A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544769 | ||||||
| chr21:10544777
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.173+1395A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544777 | ||||||
| chr21:10544932
|
G | A | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.173+1550G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10544932 | ||||||
| chr21:10544977
|
AT | A | 4 | a0004c0005t0001g0161a0004c0005t0001g0162a0004c0005t0001g0178others(1): Show | 4 | HG00741.hp2 HG01099.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.173+1597delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10544977 | |||||
| chr21:10545001
|
T | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.173+1619T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545001 | ||||||
| chr21:10545002
|
A | T | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.173+1620A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545002 | ||||||
| chr21:10545017
|
G | A | 142 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(139): Show | 150 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.173+1635G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545017 | ||||||
| chr21:10545064
|
T | G | 1 | a0005c0006t0002g0135 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.173+1682T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545064 | ||||||
| chr21:10545069
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.173+1687G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545069 | ||||||
| chr21:10545072
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.173+1690A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545072 | ||||||
| chr21:10545236
|
T | TAAAATTC others(311): Show |
1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.173+1869_173+1870i others(320): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545236 | |||||
| chr21:10545236
|
T | TAAAATTC others(311): Show |
1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.173+1869_173+1870i others(320): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545236 | |||||
| chr21:10545357
|
A | G | 1 | a0001c0001t0004g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.173+1975A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545357 | ||||||
| chr21:10545429
|
A | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.173+2047A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545429 | ||||||
| chr21:10545511
|
G | A | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.173+2129G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545511 | ||||||
| chr21:10545632
|
A | G | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.173+2250A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545632 | ||||||
| chr21:10545635
|
T | TAC | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.173+2269_173+2270d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545635
|
T | TACAC | 32 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(29): Show | 34 | HG00099.hp2 HG01169.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.173+2267_173+2270d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545635
|
T | TACACAC | 9 | a0001c0003t0002g0102a0001c0003t0002g0120a0001c0012t0002g0129others(6): Show | 9 | HG01496.hp1 HG02056.hp2 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.173+2265_173+2270d others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545635
|
T | TACACACA others(1): Show |
19 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(16): Show | 21 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(18): Show |
intron_variant | MODIFIER | c.173+2263_173+2270d others(10): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545635
|
T | TACACACA others(3): Show |
1 | a0001c0003t0002g0109 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.173+2261_173+2270d others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545635
|
TACAC | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.173+2267_173+2270d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10545635 | |||||
| chr21:10545692
|
G | T | 1 | a0008c0009t0008g0016 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.173+2310G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545692 | ||||||
| chr21:10545780
|
C | T | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.173+2398C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10545780 | ||||||
| chr21:10546221
|
A | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.173+2839A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546221 | ||||||
| chr21:10546347
|
C | T | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.173+2965C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546347 | ||||||
| chr21:10546441
|
TG | T | 1 | a0001c0001t0004g0007 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.173+3060delG | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546441 | ||||||
| chr21:10546558
|
A | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.173+3176A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546558 | ||||||
| chr21:10546848
|
A | G | 1 | a0001c0003t0002g0115 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.173+3466A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546848 | ||||||
| chr21:10546891
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.173+3509C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10546891 | ||||||
| chr21:10547160
|
G | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.173+3778G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547160 | ||||||
| chr21:10547196
|
A | G | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.173+3814A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547196 | ||||||
| chr21:10547207
|
G | T | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.173+3825G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547207 | ||||||
| chr21:10547232
|
A | T | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.173+3850A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547232 | ||||||
| chr21:10547341
|
C | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.173+3959C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547341 | ||||||
| chr21:10547385
|
T | C | 3 | a0005c0006t0002g0134a0005c0006t0002g0135a0005c0006t0002g0197 | 3 | HG02698.hp2 NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.173+4003T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547385 | ||||||
| chr21:10547425
|
G | A | 2 | a0001c0003t0002g0123a0001c0003t0002g0128 | 2 | HG01169.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.173+4043G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547425 | ||||||
| chr21:10547722
|
C | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.173+4340C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547722 | ||||||
| chr21:10547825
|
C | G | 1 | a0002c0002t0001g0152 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.173+4443C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547825 | ||||||
| chr21:10547901
|
A | G | 1 | a0001c0001t0004g0078 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.173+4519A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547901 | ||||||
| chr21:10547904
|
T | A | 1 | a0001c0001t0004g0078 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.173+4522T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547904 | ||||||
| chr21:10547929
|
C | T | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.173+4547C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547929 | ||||||
| chr21:10547965
|
A | G | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.173+4583A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10547965 | ||||||
| chr21:10548025
|
C | G | 1 | a0001c0001t0004g0080 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.174-4632C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548025 | ||||||
| chr21:10548043
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.174-4614G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548043 | ||||||
| chr21:10548137
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-4520A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548137 | ||||||
| chr21:10548272
|
C | G | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.174-4385C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548272 | ||||||
| chr21:10548273
|
A | C | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.174-4384A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548273 | ||||||
| chr21:10548273
|
A | G | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.174-4384A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548273 | ||||||
| chr21:10548285
|
T | G | 1 | a0015c0013t0002g0110 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.174-4372T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548285 | ||||||
| chr21:10548318
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-4339G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548318 | ||||||
| chr21:10548356
|
A | T | 18 | a0001c0001t0003g0004a0001c0001t0003g0029a0001c0001t0003g0061others(15): Show | 18 | HG00733.hp2 HG00741.hp1 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.174-4301A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548356 | ||||||
| chr21:10548466
|
G | A | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.174-4191G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548466 | ||||||
| chr21:10548702
|
C | T | 1 | a0001c0003t0002g0122 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.174-3955C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548702 | ||||||
| chr21:10548715
|
T | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.174-3942T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548715 | ||||||
| chr21:10548892
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.174-3765G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548892 | ||||||
| chr21:10548948
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.174-3709A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10548948 | ||||||
| chr21:10549148
|
T | C | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.174-3509T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549148 | ||||||
| chr21:10549252
|
T | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.174-3405T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549252 | ||||||
| chr21:10549279
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.174-3378C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549279 | ||||||
| chr21:10549371
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-3286T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549371 | ||||||
| chr21:10549490
|
A | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.174-3167A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549490 | ||||||
| chr21:10549645
|
CA | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-3005delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10549645 | |||||
| chr21:10549694
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.174-2963A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549694 | ||||||
| chr21:10549784
|
G | A | 1 | a0008c0009t0009g0015 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.174-2873G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549784 | ||||||
| chr21:10549846
|
C | T | 1 | a0005c0006t0002g0197 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.174-2811C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549846 | ||||||
| chr21:10549865
|
C | CATT | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-2789_174-2787d others(5): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10549865 | |||||
| chr21:10549874
|
C | T | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.174-2783C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10549874 | ||||||
| chr21:10550046
|
G | C | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.174-2611G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550046 | ||||||
| chr21:10550270
|
C | T | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.174-2387C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550270 | ||||||
| chr21:10550426
|
G | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.174-2231G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550426 | ||||||
| chr21:10550633
|
C | T | 1 | a0001c0003t0002g0098 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.174-2024C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550633 | ||||||
| chr21:10550769
|
A | T | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.174-1888A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550769 | ||||||
| chr21:10550918
|
T | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-1739T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10550918 | ||||||
| chr21:10551017
|
GAAATT | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.174-1637_174-1633d others(7): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10551017 | |||||
| chr21:10551179
|
C | A | 1 | a0002c0002t0001g0179 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.174-1478C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551179 | ||||||
| chr21:10551301
|
G | A | 1 | a0001c0001t0004g0085 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.174-1356G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551301 | ||||||
| chr21:10551301
|
G | C | 1 | a0002c0002t0001g0160 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.174-1356G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551301 | ||||||
| chr21:10551342
|
G | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.174-1315G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551342 | ||||||
| chr21:10551365
|
A | G | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.174-1292A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551365 | ||||||
| chr21:10551431
|
A | AT | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.174-1225dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10551431 | |||||
| chr21:10551432
|
T | TA | 92 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(89): Show | 96 | HG00099.hp2 HG00733.hp1 HG00733.hp2 others(93): Show |
intron_variant | MODIFIER | c.174-1215dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10551432 | |||||
| chr21:10551456
|
A | T | 3 | a0001c0001t0004g0090a0001c0001t0004g0091a0001c0001t0004g0094 | 3 | HG02647.hp1 NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.174-1201A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551456 | ||||||
| chr21:10551480
|
T | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.174-1177T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551480 | ||||||
| chr21:10551600
|
C | A | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.174-1057C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551600 | ||||||
| chr21:10551674
|
A | T | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.174-983A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551674 | ||||||
| chr21:10551714
|
CA | C | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 57 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(54): Show |
intron_variant | MODIFIER | c.174-934delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10551714 | |||||
| chr21:10551778
|
G | C | 1 | a0004c0005t0001g0161 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.174-879G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551778 | ||||||
| chr21:10551837
|
C | T | 1 | a0018c0021t0003g0046 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.174-820C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551837 | ||||||
| chr21:10551937
|
A | G | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.174-720A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551937 | ||||||
| chr21:10551946
|
T | C | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.174-711T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10551946 | ||||||
| chr21:10552041
|
C | G | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.174-616C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552041 | ||||||
| chr21:10552096
|
C | T | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.174-561C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552096 | ||||||
| chr21:10552143
|
A | C | 3 | a0005c0006t0002g0134a0005c0006t0002g0135a0005c0006t0002g0197 | 3 | HG02698.hp2 NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.174-514A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552143 | ||||||
| chr21:10552256
|
AT | A | 4 | a0001c0001t0004g0082a0001c0001t0004g0084a0001c0001t0004g0085others(1): Show | 4 | HG02027.hp1 NA18954.hp1 NA18956.hp2 others(1): Show |
intron_variant | MODIFIER | c.174-398delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10552256 | |||||
| chr21:10552337
|
A | G | 1 | a0001c0003t0002g0108 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.174-320A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552337 | ||||||
| chr21:10552369
|
A | G | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.174-288A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552369 | ||||||
| chr21:10552383
|
A | G | 1 | a0007c0008t0004g0074 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.174-274A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552383 | ||||||
| chr21:10552408
|
G | C | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.174-249G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552408 | ||||||
| chr21:10552506
|
C | T | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.174-151C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552506 | ||||||
| chr21:10552576
|
C | T | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.174-81C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552576 | ||||||
| chr21:10552579
|
T | C | 1 | a0001c0001t0003g0029 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.174-78T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552579 | ||||||
| chr21:10552599
|
C | G | 13 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0079others(10): Show | 14 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(11): Show |
intron_variant | MODIFIER | c.174-58C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552599 | ||||||
| chr21:10552636
|
CT | C | 15 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(12): Show | 16 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.174-12delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | 10552636 | |||||
| chr21:10552651
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
splice_region_variant&intron_variant | LOW | c.174-6C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | chr21 | 10552651 | ||||||
| chr21:10552742
|
A | G | 1 | a0001c0010t0002g0114 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.233+26A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10552742 | ||||||
| chr21:10552787
|
C | T | 1 | a0002c0002t0001g0177 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.233+71C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10552787 | ||||||
| chr21:10552809
|
G | A | 1 | a0002c0002t0001g0163 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.233+93G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10552809 | ||||||
| chr21:10552886
|
A | T | 1 | a0001c0003t0002g0128 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.233+170A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10552886 | ||||||
| chr21:10552992
|
A | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+276A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10552992 | ||||||
| chr21:10553054
|
A | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+338A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10553054 | ||||||
| chr21:10553081
|
C | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+365C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10553081 | ||||||
| chr21:10553087
|
G | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+371G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10553087 | ||||||
| chr21:10553099
|
A | G | 1 | a0001c0001t0004g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.233+383A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10553099 | ||||||
| chr21:10553125
|
A | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+409A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10553125 | ||||||
| chr21:10554059
|
A | G | 34 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0011others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.233+1343A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554059 | ||||||
| chr21:10554067
|
CT | C | 34 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0011others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.233+1358delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr21 | 10554067 | |||||
| chr21:10554080
|
C | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.233+1364C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554080 | ||||||
| chr21:10554119
|
A | ATTAC | 34 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0011others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.233+1406_233+1407i others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr21 | 10554119 | |||||
| chr21:10554134
|
G | A | 34 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0011others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.233+1418G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554134 | ||||||
| chr21:10554243
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.233+1527T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554243 | ||||||
| chr21:10554385
|
C | T | 2 | a0001c0001t0004g0008a0002c0002t0001g0183 | 3 | HG00738.hp2 HG01516.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.233+1669C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554385 | ||||||
| chr21:10554441
|
C | T | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.233+1725C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554441 | ||||||
| chr21:10554469
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.233+1753A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554469 | ||||||
| chr21:10554522
|
C | T | 6 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(3): Show | 6 | HG01928.hp2 HG02004.hp2 NA18945.hp1 others(3): Show |
intron_variant | MODIFIER | c.233+1806C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554522 | ||||||
| chr21:10554616
|
T | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.233+1900T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554616 | ||||||
| chr21:10554712
|
C | A | 1 | a0004c0005t0001g0187 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.233+1996C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554712 | ||||||
| chr21:10554731
|
T | C | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.233+2015T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10554731 | ||||||
| chr21:10555032
|
C | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.233+2316C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555032 | ||||||
| chr21:10555187
|
G | A | 1 | a0001c0001t0005g0062 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.233+2471G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555187 | ||||||
| chr21:10555263
|
A | G | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.233+2547A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555263 | ||||||
| chr21:10555291
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.233+2575C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555291 | ||||||
| chr21:10555319
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.233+2603G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555319 | ||||||
| chr21:10555374
|
T | C | 1 | a0003c0004t0003g0025 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.233+2658T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555374 | ||||||
| chr21:10555409
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.233+2693C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555409 | ||||||
| chr21:10555496
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.233+2780G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555496 | ||||||
| chr21:10555506
|
G | A | 1 | a0013c0017t0005g0055 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.233+2790G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555506 | ||||||
| chr21:10555558
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.233+2842T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555558 | ||||||
| chr21:10555562
|
G | A | 3 | a0002c0002t0001g0194a0008c0009t0008g0016a0008c0009t0009g0015 | 3 | HG02717.hp2 HG03471.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.233+2846G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555562 | ||||||
| chr21:10555669
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.233+2953C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555669 | ||||||
| chr21:10555734
|
T | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.233+3018T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555734 | ||||||
| chr21:10555784
|
C | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.233+3068C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555784 | ||||||
| chr21:10555876
|
G | A | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.233+3160G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10555876 | ||||||
| chr21:10556041
|
C | CT | 32 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(29): Show | 35 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.233+3333dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr21 | 10556041 | |||||
| chr21:10556150
|
A | T | 1 | a0003c0004t0003g0025 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.234-3344A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556150 | ||||||
| chr21:10556263
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.234-3231A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556263 | ||||||
| chr21:10556563
|
T | A | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.234-2931T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556563 | ||||||
| chr21:10556585
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.234-2909G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556585 | ||||||
| chr21:10556634
|
G | T | 1 | a0005c0006t0002g0132 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.234-2860G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556634 | ||||||
| chr21:10556894
|
A | AT | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.234-2593dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr21 | 10556894 | |||||
| chr21:10556944
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.234-2550T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556944 | ||||||
| chr21:10556962
|
G | A | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.234-2532G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556962 | ||||||
| chr21:10556994
|
G | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.234-2500G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10556994 | ||||||
| chr21:10557026
|
A | G | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.234-2468A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557026 | ||||||
| chr21:10557091
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.234-2403T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557091 | ||||||
| chr21:10557095
|
C | G | 1 | a0002c0002t0001g0193 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.234-2399C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557095 | ||||||
| chr21:10557267
|
T | G | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.234-2227T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557267 | ||||||
| chr21:10557433
|
A | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.234-2061A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557433 | ||||||
| chr21:10557629
|
C | G | 1 | a0013c0017t0005g0055 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.234-1865C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557629 | ||||||
| chr21:10557819
|
T | G | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.234-1675T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557819 | ||||||
| chr21:10557891
|
C | T | 1 | a0001c0001t0004g0080 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.234-1603C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557891 | ||||||
| chr21:10557913
|
C | T | 1 | a0002c0002t0001g0189 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.234-1581C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10557913 | ||||||
| chr21:10558059
|
T | C | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.234-1435T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558059 | ||||||
| chr21:10558106
|
T | G | 11 | a0002c0002t0001g0149a0004c0005t0001g0145a0004c0005t0001g0154others(8): Show | 11 | HG00741.hp2 HG01099.hp2 HG01123.hp1 others(8): Show |
intron_variant | MODIFIER | c.234-1388T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558106 | ||||||
| chr21:10558147
|
A | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.234-1347A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558147 | ||||||
| chr21:10558207
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.234-1287A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558207 | ||||||
| chr21:10558511
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.234-983C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558511 | ||||||
| chr21:10558626
|
C | T | 2 | a0002c0002t0001g0190a0002c0002t0001g0195 | 2 | HG01358.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.234-868C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558626 | ||||||
| chr21:10558629
|
G | A | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.234-865G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558629 | ||||||
| chr21:10558726
|
T | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.234-768T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558726 | ||||||
| chr21:10558737
|
T | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.234-757T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558737 | ||||||
| chr21:10558846
|
C | A | 4 | a0002c0002t0001g0002a0002c0002t0001g0165a0002c0002t0001g0166others(1): Show | 6 | NA18964.hp1 NA18995.hp1 NA19004.hp1 others(3): Show |
intron_variant | MODIFIER | c.234-648C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558846 | ||||||
| chr21:10558909
|
G | A | 1 | a0005c0006t0002g0130 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.234-585G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558909 | ||||||
| chr21:10558927
|
C | T | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.234-567C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558927 | ||||||
| chr21:10558928
|
G | A | 4 | a0001c0001t0003g0029a0001c0001t0005g0020a0001c0001t0005g0048others(1): Show | 4 | HG00733.hp2 NA18948.hp1 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.234-566G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558928 | ||||||
| chr21:10558928
|
G | C | 15 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(12): Show | 16 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.234-566G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558928 | ||||||
| chr21:10558998
|
T | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.234-496T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10558998 | ||||||
| chr21:10559027
|
C | T | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.234-467C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10559027 | ||||||
| chr21:10559048
|
A | G | 1 | a0004c0005t0001g0147 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.234-446A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10559048 | ||||||
| chr21:10559442
|
C | T | 1 | a0002c0002t0001g0166 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.234-52C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10559442 | ||||||
| chr21:10559445
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.234-49T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10559445 | ||||||
| chr21:10559490
|
G | A | 1 | a0001c0001t0004g0012 | 1 | HG03098.hp2 | splice_region_variant&intron_variant | LOW | c.234-4G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 8/23 | chr21 | 10559490 | ||||||
| chr21:10559593
|
G | C | 1 | a0020c0024t0004g0088 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.284+49G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559593 | ||||||
| chr21:10559659
|
A | G | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.284+115A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559659 | ||||||
| chr21:10559772
|
G | T | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.284+228G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559772 | ||||||
| chr21:10559788
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.284+244C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559788 | ||||||
| chr21:10559797
|
C | T | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.284+253C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559797 | ||||||
| chr21:10559811
|
T | A | 1 | a0001c0003t0002g0125 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.284+267T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559811 | ||||||
| chr21:10559845
|
G | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.284+301G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559845 | ||||||
| chr21:10559872
|
T | TA | 6 | a0001c0001t0004g0008a0001c0001t0004g0011a0001c0001t0004g0012others(3): Show | 7 | HG00738.hp2 HG01123.hp2 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.284+349dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | 10559872 | |||||
| chr21:10559872
|
T | TAA | 13 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(10): Show | 13 | HG01256.hp2 HG01346.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.284+348_284+349dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | 10559872 | |||||
| chr21:10559872
|
TA | T | 29 | a0001c0001t0004g0065a0001c0001t0005g0017a0001c0001t0006g0097others(26): Show | 31 | HG00544.hp2 HG00597.hp1 HG01169.hp2 others(28): Show |
intron_variant | MODIFIER | c.284+349delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | 10559872 | |||||
| chr21:10559929
|
T | C | 142 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(139): Show | 150 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.284+385T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559929 | ||||||
| chr21:10559933
|
CA | C | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.284+390delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10559933 | ||||||
| chr21:10560185
|
A | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.284+641A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10560185 | ||||||
| chr21:10560297
|
A | G | 6 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(3): Show | 6 | HG01928.hp2 HG02004.hp2 NA18945.hp1 others(3): Show |
intron_variant | MODIFIER | c.285-733A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10560297 | ||||||
| chr21:10560681
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.285-349A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10560681 | ||||||
| chr21:10560724
|
AACAG | A | 2 | a0001c0001t0003g0041a0001c0001t0003g0042 | 2 | HG02698.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.285-301_285-298del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | 10560724 | |||||
| chr21:10560821
|
T | A | 1 | a0001c0001t0003g0041 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.285-209T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10560821 | ||||||
| chr21:10560983
|
C | T | 28 | a0001c0001t0003g0030a0003c0004t0003g0005a0003c0004t0003g0013others(25): Show | 29 | HG01099.hp1 HG01123.hp2 HG01943.hp1 others(26): Show |
intron_variant | MODIFIER | c.285-47C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | chr21 | 10560983 | ||||||
| chr21:10560994
|
CATTTATT others(1): Show |
C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.285-19_285-12delAT others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | 10560994 | |||||
| chr21:10561201
|
A | G | 1 | a0003c0004t0003g0032 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.446+10A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561201 | ||||||
| chr21:10561240
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.446+49A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561240 | ||||||
| chr21:10561295
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.446+104G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561295 | ||||||
| chr21:10561296
|
A | G | 39 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(36): Show | 41 | HG00099.hp1 HG00544.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.446+105A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561296 | ||||||
| chr21:10561424
|
A | T | 2 | a0007c0008t0004g0073a0007c0008t0004g0074 | 2 | HG02135.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.446+233A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561424 | ||||||
| chr21:10561491
|
C | CA | 10 | a0001c0001t0004g0089a0001c0001t0004g0094a0001c0001t0005g0014others(7): Show | 10 | HG01358.hp2 HG02040.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.446+318dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10561491 | |||||
| chr21:10561491
|
CA | C | 19 | a0001c0001t0004g0080a0001c0001t0004g0087a0001c0001t0004g0092others(16): Show | 20 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.446+318delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10561491 | |||||
| chr21:10561491
|
CAA | C | 22 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(19): Show | 24 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.446+317_446+318del others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10561491 | |||||
| chr21:10561516
|
T | A | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.446+325T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561516 | ||||||
| chr21:10561602
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.446+411C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561602 | ||||||
| chr21:10561603
|
C | G | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.446+412C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561603 | ||||||
| chr21:10561607
|
C | A | 4 | a0001c0001t0004g0075a0001c0001t0004g0076a0001c0001t0004g0077others(1): Show | 4 | HG02630.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.446+416C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561607 | ||||||
| chr21:10561677
|
A | G | 4 | a0001c0001t0004g0086a0001c0003t0002g0102a0001c0003t0002g0106others(1): Show | 4 | NA18956.hp2 NA18964.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.446+486A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561677 | ||||||
| chr21:10561826
|
A | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.446+635A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10561826 | ||||||
| chr21:10562042
|
A | T | 1 | a0014c0018t0003g0024 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.446+851A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562042 | ||||||
| chr21:10562049
|
CTGTT | C | 22 | a0001c0001t0004g0012a0001c0003t0002g0001a0001c0003t0002g0098others(19): Show | 24 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.446+865_446+868del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10562049 | |||||
| chr21:10562192
|
C | A | 3 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122 | 3 | HG01496.hp1 HG02886.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.446+1001C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562192 | ||||||
| chr21:10562204
|
T | C | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.446+1013T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562204 | ||||||
| chr21:10562224
|
C | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.446+1033C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562224 | ||||||
| chr21:10562240
|
A | G | 1 | a0003c0004t0003g0044 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.446+1049A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562240 | ||||||
| chr21:10562331
|
A | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.446+1140A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562331 | ||||||
| chr21:10562362
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.446+1171T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562362 | ||||||
| chr21:10562420
|
C | G | 1 | a0001c0001t0003g0042 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.446+1229C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562420 | ||||||
| chr21:10562715
|
T | C | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.446+1524T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562715 | ||||||
| chr21:10562746
|
C | T | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.446+1555C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562746 | ||||||
| chr21:10562749
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.446+1558C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562749 | ||||||
| chr21:10562820
|
T | C | 1 | a0020c0024t0004g0088 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.446+1629T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562820 | ||||||
| chr21:10562844
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.446+1653A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562844 | ||||||
| chr21:10562913
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.446+1722A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562913 | ||||||
| chr21:10562965
|
C | T | 1 | a0001c0003t0002g0103 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.446+1774C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10562965 | ||||||
| chr21:10563038
|
C | T | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.446+1847C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563038 | ||||||
| chr21:10563077
|
G | A | 1 | a0003c0004t0003g0045 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.446+1886G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563077 | ||||||
| chr21:10563108
|
T | C | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.446+1917T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563108 | ||||||
| chr21:10563361
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.446+2170C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563361 | ||||||
| chr21:10563429
|
G | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.446+2238G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563429 | ||||||
| chr21:10563532
|
ATTAG | A | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.446+2344_446+2347d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10563532 | |||||
| chr21:10563651
|
G | A | 1 | a0004c0005t0001g0147 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.446+2460G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563651 | ||||||
| chr21:10563676
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.446+2485T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563676 | ||||||
| chr21:10563714
|
C | T | 5 | a0002c0002t0001g0149a0004c0005t0001g0154a0004c0005t0001g0155others(2): Show | 5 | HG01123.hp1 HG01928.hp1 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.446+2523C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563714 | ||||||
| chr21:10563776
|
G | T | 9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.446+2585G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563776 | ||||||
| chr21:10563778
|
G | T | 32 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(29): Show | 34 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.446+2587G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10563778 | ||||||
| chr21:10564010
|
A | T | 14 | a0005c0006t0002g0130a0005c0006t0002g0131a0005c0006t0002g0132others(11): Show | 14 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(11): Show |
intron_variant | MODIFIER | c.446+2819A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564010 | ||||||
| chr21:10564030
|
C | T | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.446+2839C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564030 | ||||||
| chr21:10564271
|
A | G | 2 | a0002c0002t0001g0176a0002c0002t0001g0186 | 2 | NA19003.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.446+3080A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564271 | ||||||
| chr21:10564338
|
T | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.446+3147T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564338 | ||||||
| chr21:10564607
|
A | G | 2 | a0005c0006t0002g0134a0005c0006t0002g0135 | 2 | NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.447-3063A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564607 | ||||||
| chr21:10564729
|
C | T | 1 | a0001c0001t0005g0053 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.447-2941C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564729 | ||||||
| chr21:10564744
|
A | G | 4 | a0003c0004t0003g0013a0005c0006t0002g0134a0005c0006t0002g0135others(1): Show | 4 | HG02698.hp2 NA18612.hp1 NA18974.hp2 others(1): Show |
intron_variant | MODIFIER | c.447-2926A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564744 | ||||||
| chr21:10564767
|
T | G | 1 | a0001c0001t0004g0066 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.447-2903T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564767 | ||||||
| chr21:10564827
|
A | C | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.447-2843A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564827 | ||||||
| chr21:10564944
|
A | G | 1 | a0003c0004t0003g0040 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.447-2726A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564944 | ||||||
| chr21:10564968
|
G | A | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.447-2702G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564968 | ||||||
| chr21:10564985
|
C | T | 34 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0065others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.447-2685C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10564985 | ||||||
| chr21:10565270
|
G | A | 143 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(140): Show | 151 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.447-2400G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10565270 | ||||||
| chr21:10565499
|
G | A | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.447-2171G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10565499 | ||||||
| chr21:10565746
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.447-1924G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10565746 | ||||||
| chr21:10565908
|
C | G | 1 | a0002c0002t0001g0175 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.447-1762C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10565908 | ||||||
| chr21:10565963
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.447-1707G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10565963 | ||||||
| chr21:10566042
|
A | G | 6 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(3): Show | 6 | HG01928.hp2 HG02004.hp2 NA18945.hp1 others(3): Show |
intron_variant | MODIFIER | c.447-1628A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566042 | ||||||
| chr21:10566051
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.447-1619G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566051 | ||||||
| chr21:10566198
|
A | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.447-1472A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566198 | ||||||
| chr21:10566308
|
A | G | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.447-1362A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566308 | ||||||
| chr21:10566311
|
A | G | 47 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(44): Show | 50 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.447-1359A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566311 | ||||||
| chr21:10566338
|
T | A | 2 | a0002c0002t0001g0151a0002c0002t0001g0192 | 2 | HG02132.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.447-1332T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566338 | ||||||
| chr21:10566399
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.447-1271C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566399 | ||||||
| chr21:10566533
|
A | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.447-1137A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566533 | ||||||
| chr21:10566587
|
A | G | 1 | a0004c0005t0001g0155 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.447-1083A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566587 | ||||||
| chr21:10566643
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.447-1027G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566643 | ||||||
| chr21:10566694
|
C | T | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.447-976C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566694 | ||||||
| chr21:10566792
|
C | T | 1 | a0002c0002t0001g0160 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.447-878C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566792 | ||||||
| chr21:10566799
|
A | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.447-871A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566799 | ||||||
| chr21:10566850
|
A | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.447-820A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566850 | ||||||
| chr21:10566870
|
G | A | 2 | a0002c0002t0001g0152a0002c0002t0001g0175 | 2 | HG00597.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.447-800G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566870 | ||||||
| chr21:10566925
|
C | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.447-745C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10566925 | ||||||
| chr21:10566977
|
C | CA | 42 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0065others(39): Show | 44 | HG00741.hp2 HG01099.hp2 HG01169.hp1 others(41): Show |
intron_variant | MODIFIER | c.447-675dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10566977 | |||||
| chr21:10566977
|
C | CAA | 6 | a0001c0001t0006g0099a0001c0003t0002g0125a0001c0003t0002g0126others(3): Show | 6 | HG02630.hp1 HG02886.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.447-676_447-675dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10566977 | |||||
| chr21:10566977
|
CA | C | 7 | a0001c0001t0003g0023a0001c0001t0004g0090a0001c0001t0004g0091others(4): Show | 9 | HG00597.hp1 NA18612.hp2 NA18945.hp2 others(6): Show |
intron_variant | MODIFIER | c.447-675delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10566977 | |||||
| chr21:10567002
|
C | T | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.447-668C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567002 | ||||||
| chr21:10567107
|
T | TAA | 8 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(5): Show | 9 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.447-546_447-545dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10567107 | |||||
| chr21:10567107
|
TA | T | 31 | a0001c0001t0003g0004a0001c0001t0003g0061a0001c0001t0005g0004others(28): Show | 33 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.447-545delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10567107 | |||||
| chr21:10567107
|
TAA | T | 36 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(33): Show | 38 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(35): Show |
intron_variant | MODIFIER | c.447-546_447-545del others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10567107 | |||||
| chr21:10567180
|
A | T | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.447-490A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567180 | ||||||
| chr21:10567233
|
G | C | 2 | a0001c0003t0002g0128a0009c0025t0002g0119 | 2 | HG01169.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.447-437G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567233 | ||||||
| chr21:10567264
|
A | G | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.447-406A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567264 | ||||||
| chr21:10567298
|
A | G | 3 | a0005c0006t0002g0134a0005c0006t0002g0135a0005c0006t0002g0197 | 3 | HG02698.hp2 NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.447-372A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567298 | ||||||
| chr21:10567370
|
T | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.447-300T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567370 | ||||||
| chr21:10567390
|
G | A | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.447-280G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567390 | ||||||
| chr21:10567478
|
A | G | 2 | a0001c0001t0004g0077a0001c0001t0004g0078 | 2 | HG02630.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.447-192A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | chr21 | 10567478 | ||||||
| chr21:10567621
|
CTCT | C | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.447-44_447-42delCT others(1): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | 10567621 | |||||
| chr21:10567799
|
A | G | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.566+10A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10567799 | ||||||
| chr21:10567821
|
T | G | 1 | a0003c0004t0003g0054 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.566+32T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10567821 | ||||||
| chr21:10567978
|
G | A | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.566+189G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10567978 | ||||||
| chr21:10568094
|
A | G | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.566+305A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568094 | ||||||
| chr21:10568108
|
T | G | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.566+319T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568108 | ||||||
| chr21:10568181
|
T | C | 1 | a0004c0005t0001g0185 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.566+392T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568181 | ||||||
| chr21:10568219
|
A | G | 33 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(30): Show | 35 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(32): Show |
intron_variant | MODIFIER | c.566+430A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568219 | ||||||
| chr21:10568371
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.566+582G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568371 | ||||||
| chr21:10568434
|
G | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.566+645G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568434 | ||||||
| chr21:10568479
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.566+690G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568479 | ||||||
| chr21:10568719
|
A | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.567-718A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10568719 | ||||||
| chr21:10569151
|
G | C | 48 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.567-286G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10569151 | ||||||
| chr21:10569180
|
T | C | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.567-257T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 11/23 | chr21 | 10569180 | ||||||
| chr21:10569615
|
C | G | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.667-68C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 12/23 | chr21 | 10569615 | ||||||
| chr21:10569769
|
T | C | 4 | a0002c0002t0001g0146a0002c0002t0001g0163a0002c0002t0001g0167others(1): Show | 4 | HG00544.hp1 HG02027.hp2 HG02040.hp1 others(1): Show |
intron_variant | MODIFIER | c.730+23T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 13/23 | chr21 | 10569769 | ||||||
| chr21:10569793
|
CTTGTAA | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.730+53_730+58delAT others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr21 | 10569793 | |||||
| chr21:10569829
|
C | T | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.730+83C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 13/23 | chr21 | 10569829 | ||||||
| chr21:10569898
|
A | T | 2 | a0004c0005t0001g0162a0004c0005t0001g0178 | 2 | HG01099.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.730+152A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 13/23 | chr21 | 10569898 | ||||||
| chr21:10570049
|
C | A | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.730+303C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 13/23 | chr21 | 10570049 | ||||||
| chr21:10570664
|
GA | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.795+123delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10570664 | |||||
| chr21:10570680
|
G | A | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.795+131G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10570680 | ||||||
| chr21:10570954
|
C | T | 9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.795+405C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10570954 | ||||||
| chr21:10570985
|
C | T | 1 | a0001c0001t0005g0053 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.795+436C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10570985 | ||||||
| chr21:10571004
|
C | T | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.795+455C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571004 | ||||||
| chr21:10571005
|
C | T | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.795+456C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571005 | ||||||
| chr21:10571103
|
T | C | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.795+554T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571103 | ||||||
| chr21:10571124
|
C | T | 1 | a0005c0006t0002g0197 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.795+575C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571124 | ||||||
| chr21:10571139
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.795+590C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571139 | ||||||
| chr21:10571145
|
C | T | 1 | a0001c0001t0001g0182 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.795+596C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571145 | ||||||
| chr21:10571240
|
A | G | 1 | a0004c0005t0001g0164 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.795+691A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571240 | ||||||
| chr21:10571401
|
A | G | 1 | a0002c0002t0001g0183 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.795+852A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571401 | ||||||
| chr21:10571442
|
G | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.795+893G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571442 | ||||||
| chr21:10571648
|
G | GAT | 3 | a0001c0001t0004g0090a0001c0001t0004g0091a0001c0001t0006g0097 | 3 | NA18970.hp2 NA18971.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.795+1108_795+1109d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10571648 | |||||
| chr21:10571716
|
A | G | 13 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.795+1167A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571716 | ||||||
| chr21:10571850
|
C | G | 2 | a0003c0004t0003g0095a0003c0004t0003g0096 | 2 | HG01943.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.795+1301C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571850 | ||||||
| chr21:10571875
|
C | T | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.795+1326C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571875 | ||||||
| chr21:10571902
|
G | T | 2 | a0004c0005t0001g0162a0004c0005t0001g0178 | 2 | HG01099.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.795+1353G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10571902 | ||||||
| chr21:10572004
|
C | CA | 5 | a0001c0001t0004g0008a0001c0001t0004g0011a0001c0003t0002g0001others(2): Show | 9 | HG00597.hp1 HG00738.hp2 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.795+1471dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572004 | |||||
| chr21:10572004
|
CA | C | 72 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(69): Show | 73 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(70): Show |
intron_variant | MODIFIER | c.795+1471delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572004 | |||||
| chr21:10572059
|
T | C | 1 | a0001c0003t0002g0106 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.795+1510T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572059 | ||||||
| chr21:10572229
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.795+1680C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572229 | ||||||
| chr21:10572277
|
G | A | 49 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(46): Show | 52 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.795+1728G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572277 | ||||||
| chr21:10572295
|
C | CA | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.795+1753dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572295 | |||||
| chr21:10572417
|
A | G | 1 | a0003c0004t0003g0060 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.795+1868A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572417 | ||||||
| chr21:10572439
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.795+1890G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572439 | ||||||
| chr21:10572450
|
C | CA | 10 | a0001c0001t0003g0021a0001c0001t0005g0017a0001c0001t0005g0048others(7): Show | 10 | HG00733.hp2 HG01257.hp2 HG01361.hp2 others(7): Show |
intron_variant | MODIFIER | c.795+1923dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572450 | |||||
| chr21:10572450
|
CA | C | 30 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(27): Show | 32 | HG00099.hp2 HG01099.hp2 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.795+1923delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572450 | |||||
| chr21:10572450
|
CAAAA | C | 35 | a0001c0001t0006g0097a0001c0003t0002g0001a0001c0003t0002g0098others(32): Show | 37 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.795+1920_795+1923d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572450 | |||||
| chr21:10572450
|
CAAAAA | C | 10 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122others(7): Show | 10 | HG01169.hp1 HG01496.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.795+1919_795+1923d others(7): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572450 | |||||
| chr21:10572505
|
A | G | 3 | a0001c0001t0003g0029a0001c0001t0005g0048a0001c0020t0005g0049 | 3 | HG00733.hp2 NA18948.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.795+1956A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572505 | ||||||
| chr21:10572596
|
T | C | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.795+2047T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572596 | ||||||
| chr21:10572606
|
C | T | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.795+2057C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572606 | ||||||
| chr21:10572611
|
G | GA | 55 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0006g0097others(52): Show | 58 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.795+2072dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572611 | |||||
| chr21:10572642
|
G | A | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.795+2093G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572642 | ||||||
| chr21:10572642
|
G | T | 14 | a0001c0001t0001g0159a0001c0001t0004g0007a0001c0001t0004g0066others(11): Show | 15 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(12): Show |
intron_variant | MODIFIER | c.795+2093G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572642 | ||||||
| chr21:10572649
|
A | C | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.795+2100A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572649 | ||||||
| chr21:10572669
|
A | G | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.795+2120A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572669 | ||||||
| chr21:10572795
|
C | CA | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.795+2251dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572795 | |||||
| chr21:10572833
|
T | C | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.795+2284T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572833 | ||||||
| chr21:10572899
|
T | TA | 48 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.795+2360dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10572899 | |||||
| chr21:10572905
|
A | AG | 4 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122others(1): Show | 4 | HG01496.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.795+2356_795+2357i others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10572905 | ||||||
| chr21:10573059
|
T | TA | 19 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(16): Show | 20 | HG00099.hp2 HG01099.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.795+2524dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10573059 | |||||
| chr21:10573059
|
T | TAAA | 37 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(34): Show | 40 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(37): Show |
intron_variant | MODIFIER | c.795+2522_795+2524d others(5): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10573059 | |||||
| chr21:10573059
|
T | TAAAA | 8 | a0001c0003t0002g0121a0001c0003t0002g0124a0001c0012t0002g0129others(5): Show | 8 | HG01346.hp1 HG02056.hp2 HG02071.hp1 others(5): Show |
intron_variant | MODIFIER | c.795+2521_795+2524d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10573059 | |||||
| chr21:10573114
|
GT | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.795+2566delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573114 | ||||||
| chr21:10573292
|
T | C | 15 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(12): Show | 16 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.795+2743T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573292 | ||||||
| chr21:10573425
|
A | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.795+2876A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573425 | ||||||
| chr21:10573580
|
C | A | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.795+3031C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573580 | ||||||
| chr21:10573589
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.795+3040G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573589 | ||||||
| chr21:10573598
|
ATATTTGA others(18): Show |
A | 1 | a0005c0006t0002g0142 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.795+3053_795+3077d others(27): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10573598 | |||||
| chr21:10573616
|
A | G | 1 | a0003c0004t0003g0039 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.795+3067A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573616 | ||||||
| chr21:10573671
|
C | T | 1 | a0001c0003t0002g0113 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.795+3122C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573671 | ||||||
| chr21:10573834
|
A | T | 1 | a0004c0005t0001g0185 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.795+3285A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573834 | ||||||
| chr21:10573856
|
C | T | 6 | a0001c0001t0001g0159a0001c0001t0004g0080a0001c0001t0004g0082others(3): Show | 6 | HG02027.hp1 HG02135.hp2 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.795+3307C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573856 | ||||||
| chr21:10573925
|
C | G | 14 | a0001c0001t0001g0159a0001c0001t0004g0007a0001c0001t0004g0066others(11): Show | 15 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(12): Show |
intron_variant | MODIFIER | c.795+3376C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10573925 | ||||||
| chr21:10574214
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.796-3246T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574214 | ||||||
| chr21:10574223
|
C | T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.796-3237C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574223 | ||||||
| chr21:10574319
|
G | A | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.796-3141G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574319 | ||||||
| chr21:10574323
|
T | C | 2 | a0005c0006t0002g0130a0005c0006t0002g0138 | 2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.796-3137T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574323 | ||||||
| chr21:10574407
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.796-3053A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574407 | ||||||
| chr21:10574533
|
C | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-2927C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574533 | ||||||
| chr21:10574535
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-2925C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574535 | ||||||
| chr21:10574547
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-2913G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574547 | ||||||
| chr21:10574678
|
C | T | 37 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(34): Show | 39 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(36): Show |
intron_variant | MODIFIER | c.796-2782C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574678 | ||||||
| chr21:10574682
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.796-2778G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574682 | ||||||
| chr21:10574770
|
C | A | 5 | a0003c0004t0003g0013a0003c0004t0003g0035a0003c0004t0003g0036others(2): Show | 5 | NA18963.hp1 NA18974.hp2 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.796-2690C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574770 | ||||||
| chr21:10574772
|
T | C | 17 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0137others(14): Show | 17 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(14): Show |
intron_variant | MODIFIER | c.796-2688T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10574772 | ||||||
| chr21:10575014
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-2446G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575014 | ||||||
| chr21:10575045
|
C | T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.796-2415C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575045 | ||||||
| chr21:10575111
|
C | T | 1 | a0001c0003t0002g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.796-2349C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575111 | ||||||
| chr21:10575192
|
A | G | 56 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(53): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.796-2268A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575192 | ||||||
| chr21:10575203
|
A | G | 1 | a0002c0002t0001g0177 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.796-2257A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575203 | ||||||
| chr21:10575283
|
A | G | 4 | a0001c0001t0004g0011a0001c0001t0004g0012a0008c0009t0008g0016others(1): Show | 4 | HG02717.hp2 HG03098.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.796-2177A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575283 | ||||||
| chr21:10575339
|
TCTATGGA | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.796-2119_796-2113d others(9): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10575339 | |||||
| chr21:10575342
|
A | G | 2 | a0002c0002t0001g0174a0002c0002t0001g0180 | 2 | HG00099.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.796-2118A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575342 | ||||||
| chr21:10575440
|
G | T | 5 | a0003c0004t0003g0013a0003c0004t0003g0035a0003c0004t0003g0036others(2): Show | 5 | NA18963.hp1 NA18974.hp2 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.796-2020G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575440 | ||||||
| chr21:10575466
|
G | A | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.796-1994G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575466 | ||||||
| chr21:10575516
|
C | A | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.796-1944C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575516 | ||||||
| chr21:10575554
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.796-1906C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575554 | ||||||
| chr21:10575565
|
G | A | 5 | a0003c0004t0003g0013a0003c0004t0003g0035a0003c0004t0003g0036others(2): Show | 5 | NA18963.hp1 NA18974.hp2 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.796-1895G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575565 | ||||||
| chr21:10575761
|
A | T | 1 | a0004c0005t0001g0145 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.796-1699A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575761 | ||||||
| chr21:10575779
|
G | A | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.796-1681G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10575779 | ||||||
| chr21:10575826
|
G | GA | 39 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(36): Show | 42 | HG00099.hp2 HG00733.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.796-1623dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10575826 | |||||
| chr21:10576026
|
A | C | 1 | a0019c0022t0003g0064 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.796-1434A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576026 | ||||||
| chr21:10576167
|
A | G | 18 | a0001c0001t0003g0004a0001c0001t0003g0029a0001c0001t0003g0061others(15): Show | 18 | HG00733.hp2 HG00741.hp1 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.796-1293A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576167 | ||||||
| chr21:10576191
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.796-1269G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576191 | ||||||
| chr21:10576229
|
G | A | 1 | a0003c0004t0003g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.796-1231G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576229 | ||||||
| chr21:10576234
|
A | G | 1 | a0008c0009t0009g0015 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.796-1226A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576234 | ||||||
| chr21:10576248
|
C | T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.796-1212C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576248 | ||||||
| chr21:10576390
|
A | G | 1 | a0006c0007t0002g0143 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.796-1070A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576390 | ||||||
| chr21:10576547
|
T | C | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.796-913T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576547 | ||||||
| chr21:10576596
|
T | C | 1 | a0004c0005t0001g0150 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.796-864T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576596 | ||||||
| chr21:10576601
|
T | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.796-859T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576601 | ||||||
| chr21:10576716
|
C | T | 1 | a0011c0016t0001g0184 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.796-744C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576716 | ||||||
| chr21:10576804
|
ATTTG | A | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.796-652_796-649del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576804 | |||||
| chr21:10576838
|
C | CAT | 10 | a0001c0001t0004g0093a0001c0003t0002g0109a0002c0002t0001g0149others(7): Show | 10 | HG00099.hp1 HG01346.hp2 HG01993.hp2 others(7): Show |
intron_variant | MODIFIER | c.796-584_796-583dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
C | CATAT | 6 | a0001c0003t0002g0113a0001c0003t0002g0120a0001c0003t0002g0121others(3): Show | 6 | HG01496.hp1 HG02273.hp1 HG02300.hp1 others(3): Show |
intron_variant | MODIFIER | c.796-586_796-583dup others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
C | CATATATA others(1): Show |
3 | a0001c0003t0002g0128a0002c0002t0001g0158a0002c0002t0001g0195 | 3 | HG01169.hp1 HG01358.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.796-590_796-583dup others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
C | CATATATA others(3): Show |
1 | a0002c0002t0001g0173 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.796-592_796-583dup others(10): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CAT | C | 24 | a0001c0001t0004g0012a0001c0001t0004g0066a0001c0003t0002g0001others(21): Show | 26 | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(23): Show |
intron_variant | MODIFIER | c.796-584_796-583del others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATAT | C | 15 | a0001c0001t0004g0007a0001c0001t0004g0011a0001c0001t0004g0079others(12): Show | 16 | HG00544.hp1 HG00733.hp1 HG01516.hp1 others(13): Show |
intron_variant | MODIFIER | c.796-586_796-583del others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATAT | C | 4 | a0001c0001t0004g0071a0001c0001t0004g0072a0001c0001t0004g0090others(1): Show | 4 | HG03471.hp2 NA18941.hp1 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.796-588_796-583del others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(1): Show |
C | 14 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0067others(11): Show | 15 | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.796-590_796-583del others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(3): Show |
C | 5 | a0001c0001t0004g0065a0001c0001t0004g0078a0001c0001t0004g0082others(2): Show | 7 | HG01169.hp2 HG02280.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.796-592_796-583del others(10): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(5): Show |
C | 3 | a0003c0004t0003g0039a0003c0004t0003g0059a0020c0024t0004g0088 | 3 | HG03516.hp1 HG03927.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.796-594_796-583del others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(7): Show |
C | 33 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(30): Show | 34 | HG01099.hp1 HG01123.hp2 HG01928.hp2 others(31): Show |
intron_variant | MODIFIER | c.796-596_796-583del others(14): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(9): Show |
C | 20 | a0001c0001t0003g0004a0001c0001t0003g0029a0001c0001t0003g0061others(17): Show | 20 | HG00733.hp2 HG00741.hp1 HG01257.hp2 others(17): Show |
intron_variant | MODIFIER | c.796-598_796-583del others(16): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(11): Show |
C | 3 | a0001c0001t0005g0014a0001c0001t0005g0050a0005c0006t0002g0132 | 3 | HG01346.hp1 HG01361.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.796-600_796-583del others(18): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(13): Show |
C | 16 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0137others(13): Show | 16 | HG01256.hp2 HG02056.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.796-602_796-583del others(20): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(17): Show |
C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.796-606_796-583del others(24): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576838
|
CATATATA others(23): Show |
C | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.796-612_796-583del others(30): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576838 | |||||
| chr21:10576848
|
T | C | 1 | a0001c0001t0004g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.796-612T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576848 | ||||||
| chr21:10576850
|
T | C | 1 | a0001c0001t0004g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.796-610T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576850 | ||||||
| chr21:10576875
|
A | ATG | 1 | a0002c0002t0001g0010 | 2 | HG00423.hp2 NA18981.hp1 |
intron_variant | MODIFIER | c.796-584_796-583ins others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10576875 | |||||
| chr21:10576882
|
C | A | 1 | a0001c0003t0002g0128 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.796-578C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10576882 | ||||||
| chr21:10577288
|
TCA | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-169_796-168del others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | 10577288 | |||||
| chr21:10577310
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.796-150G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10577310 | ||||||
| chr21:10577341
|
A | C | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.796-119A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10577341 | ||||||
| chr21:10577413
|
A | G | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.796-47A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | chr21 | 10577413 | ||||||
| chr21:10577692
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.856+172C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10577692 | ||||||
| chr21:10577785
|
C | T | 4 | a0001c0001t0006g0097a0001c0001t0006g0099a0003c0004t0003g0095others(1): Show | 4 | HG01943.hp1 HG02273.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.856+265C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10577785 | ||||||
| chr21:10577806
|
C | G | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.856+286C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10577806 | ||||||
| chr21:10577894
|
A | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.856+374A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10577894 | ||||||
| chr21:10578112
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.857-225A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10578112 | ||||||
| chr21:10578172
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.857-165T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10578172 | ||||||
| chr21:10578183
|
C | T | 1 | a0002c0002t0001g0193 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.857-154C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10578183 | ||||||
| chr21:10578184
|
G | A | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.857-153G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 15/23 | chr21 | 10578184 | ||||||
| chr21:10578451
|
G | A | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.938+33G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 16/23 | chr21 | 10578451 | ||||||
| chr21:10578964
|
T | C | 1 | a0001c0003t0002g0108 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1027+359T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10578964 | ||||||
| chr21:10579035
|
G | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1027+430G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579035 | ||||||
| chr21:10579036
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+431G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579036 | ||||||
| chr21:10579128
|
C | A | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1027+523C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579128 | ||||||
| chr21:10579189
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+584A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579189 | ||||||
| chr21:10579220
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+615A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579220 | ||||||
| chr21:10579356
|
G | A | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1027+751G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579356 | ||||||
| chr21:10579431
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1027+826G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579431 | ||||||
| chr21:10579541
|
A | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+936A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579541 | ||||||
| chr21:10579625
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+1020A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579625 | ||||||
| chr21:10579689
|
C | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+1084C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10579689 | ||||||
| chr21:10580036
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+1431G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580036 | ||||||
| chr21:10580268
|
A | G | 1 | a0001c0003t0002g0124 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1027+1663A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580268 | ||||||
| chr21:10580284
|
T | C | 1 | a0001c0001t0004g0066 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1027+1679T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580284 | ||||||
| chr21:10580632
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+2027C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580632 | ||||||
| chr21:10580782
|
C | G | 1 | a0001c0003t0002g0009 | 2 | HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1027+2177C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580782 | ||||||
| chr21:10580865
|
G | GA | 13 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0009others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1027+2260_1027+226 others(5): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580865 | ||||||
| chr21:10580866
|
G | A | 108 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(105): Show | 113 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.1027+2261G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10580866 | ||||||
| chr21:10581201
|
A | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1027+2596A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581201 | ||||||
| chr21:10581418
|
A | G | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1027+2813A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581418 | ||||||
| chr21:10581584
|
G | C | 1 | a0002c0002t0001g0160 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1027+2979G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581584 | ||||||
| chr21:10581609
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1027+3004T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581609 | ||||||
| chr21:10581641
|
G | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1027+3036G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581641 | ||||||
| chr21:10581678
|
C | G | 11 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(8): Show | 12 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.1027+3073C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581678 | ||||||
| chr21:10581769
|
G | A | 1 | a0001c0001t0004g0065 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1027+3164G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10581769 | ||||||
| chr21:10582029
|
C | G | 1 | a0001c0001t0005g0062 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1027+3424C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582029 | ||||||
| chr21:10582057
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+3452A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582057 | ||||||
| chr21:10582060
|
G | A | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1027+3455G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582060 | ||||||
| chr21:10582190
|
A | G | 1 | a0003c0004t0003g0018 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1027+3585A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582190 | ||||||
| chr21:10582241
|
G | C | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1027+3636G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582241 | ||||||
| chr21:10582249
|
A | G | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1027+3644A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582249 | ||||||
| chr21:10582582
|
T | TGTTCATT others(150): Show |
1 | a0003c0004t0003g0057 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1027+3988_1027+398 others(161): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10582582 | |||||
| chr21:10582731
|
T | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1027+4126T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582731 | ||||||
| chr21:10582858
|
A | G | 1 | a0002c0002t0001g0171 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1027+4253A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582858 | ||||||
| chr21:10582923
|
G | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1027+4318G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582923 | ||||||
| chr21:10582995
|
A | G | 1 | a0003c0004t0003g0056 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1027+4390A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10582995 | ||||||
| chr21:10583022
|
C | T | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.1027+4417C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583022 | ||||||
| chr21:10583268
|
G | A | 1 | a0001c0003t0002g0128 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1027+4663G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583268 | ||||||
| chr21:10583459
|
G | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1027+4854G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583459 | ||||||
| chr21:10583491
|
T | C | 13 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0009others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1027+4886T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583491 | ||||||
| chr21:10583841
|
T | C | 1 | a0002c0002t0001g0195 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1027+5236T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583841 | ||||||
| chr21:10583878
|
T | C | 3 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122 | 3 | HG01496.hp1 HG02886.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1027+5273T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583878 | ||||||
| chr21:10583933
|
T | A | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1027+5328T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10583933 | ||||||
| chr21:10584230
|
T | G | 13 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0009others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1027+5625T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584230 | ||||||
| chr21:10584275
|
G | A | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1027+5670G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584275 | ||||||
| chr21:10584337
|
CT | C | 9 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0078others(6): Show | 9 | HG02683.hp2 HG02717.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.1027+5751delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584337 | |||||
| chr21:10584337
|
CTT | C | 44 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(41): Show | 47 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.1027+5750_1027+575 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584337 | |||||
| chr21:10584437
|
A | T | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1027+5832A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584437 | ||||||
| chr21:10584498
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+5893T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584498 | ||||||
| chr21:10584520
|
G | A | 2 | a0001c0001t0004g0068a0001c0001t0004g0069 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1027+5915G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584520 | ||||||
| chr21:10584524
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1027+5919A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584524 | ||||||
| chr21:10584563
|
T | G | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1028-5899T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584563 | ||||||
| chr21:10584581
|
C | T | 183 | a0001c0001t0001g0159a0001c0001t0001g0182a0001c0001t0001g0188others(180): Show | 194 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(191): Show |
intron_variant | MODIFIER | c.1028-5881C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584581 | ||||||
| chr21:10584613
|
A | G | 2 | a0002c0002t0001g0174a0002c0002t0001g0180 | 2 | HG00099.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1028-5849A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584613 | ||||||
| chr21:10584624
|
T | C | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-5838T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584624 | ||||||
| chr21:10584693
|
T | C | 8 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0079others(5): Show | 9 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1028-5769T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584693 | ||||||
| chr21:10584809
|
C | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-5653C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584809 | ||||||
| chr21:10584879
|
A | AGT | 17 | a0001c0001t0004g0008a0001c0003t0002g0001a0001c0003t0002g0100others(14): Show | 21 | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(18): Show |
intron_variant | MODIFIER | c.1028-5548_1028-554 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584879 | |||||
| chr21:10584879
|
A | AGTGT | 11 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0066others(8): Show | 11 | HG02129.hp2 HG03098.hp2 NA18941.hp2 others(8): Show |
intron_variant | MODIFIER | c.1028-5550_1028-554 others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584879 | |||||
| chr21:10584879
|
A | AGTGTGT | 2 | a0002c0002t0007g0003a0018c0021t0003g0046 | 3 | NA19056.hp1 NA19064.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1028-5552_1028-554 others(10): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584879 | |||||
| chr21:10584879
|
AGT | A | 45 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(42): Show | 46 | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(43): Show |
intron_variant | MODIFIER | c.1028-5548_1028-554 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584879 | |||||
| chr21:10584879
|
AGTGT | A | 20 | a0001c0003t0002g0120a0001c0003t0002g0137a0002c0002t0001g0176others(17): Show | 20 | HG01256.hp2 HG01346.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.1028-5550_1028-554 others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10584879 | |||||
| chr21:10584921
|
T | C | 1 | a0003c0004t0003g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1028-5541T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584921 | ||||||
| chr21:10584986
|
T | A | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1028-5476T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10584986 | ||||||
| chr21:10585025
|
A | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-5437A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585025 | ||||||
| chr21:10585096
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1028-5366G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585096 | ||||||
| chr21:10585143
|
T | C | 1 | a0001c0001t0005g0017 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1028-5319T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585143 | ||||||
| chr21:10585241
|
C | CA | 14 | a0001c0003t0002g0001a0001c0003t0002g0101a0001c0003t0002g0106others(11): Show | 16 | HG00423.hp1 HG00597.hp1 HG02040.hp2 others(13): Show |
intron_variant | MODIFIER | c.1028-5206dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10585241 | |||||
| chr21:10585241
|
CA | C | 35 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0065others(32): Show | 36 | HG01123.hp1 HG01169.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1028-5206delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10585241 | |||||
| chr21:10585241
|
CAA | C | 53 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(50): Show | 55 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-5207_1028-520 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10585241 | |||||
| chr21:10585254
|
AAAG | A | 5 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0098others(2): Show | 5 | HG02886.hp2 NA18940.hp1 NA19006.hp2 others(2): Show |
intron_variant | MODIFIER | c.1028-5205_1028-520 others(7): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10585254 | |||||
| chr21:10585295
|
GT | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1028-5156delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10585295 | |||||
| chr21:10585322
|
G | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1028-5140G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585322 | ||||||
| chr21:10585419
|
C | G | 3 | a0001c0001t0003g0004a0001c0001t0003g0061a0001c0001t0005g0004 | 3 | NA19000.hp1 NA19004.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.1028-5043C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585419 | ||||||
| chr21:10585504
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-4958C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585504 | ||||||
| chr21:10585505
|
G | A | 9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1028-4957G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585505 | ||||||
| chr21:10585533
|
G | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1028-4929G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585533 | ||||||
| chr21:10585989
|
C | G | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-4473C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585989 | ||||||
| chr21:10585998
|
C | A | 1 | a0001c0001t0004g0067 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1028-4464C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10585998 | ||||||
| chr21:10586150
|
G | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1028-4312G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586150 | ||||||
| chr21:10586271
|
C | T | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-4191C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586271 | ||||||
| chr21:10586301
|
GT | G | 51 | a0001c0001t0004g0080a0001c0003t0002g0001a0001c0003t0002g0009others(48): Show | 54 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.1028-4150delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10586301 | |||||
| chr21:10586650
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-3812C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586650 | ||||||
| chr21:10586674
|
T | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1028-3788T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586674 | ||||||
| chr21:10586680
|
G | A | 2 | a0001c0001t0003g0022a0014c0018t0003g0024 | 2 | HG01928.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1028-3782G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586680 | ||||||
| chr21:10586680
|
G | C | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-3782G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586680 | ||||||
| chr21:10586785
|
A | T | 107 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(104): Show | 112 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1028-3677A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586785 | ||||||
| chr21:10586985
|
T | C | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1028-3477T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10586985 | ||||||
| chr21:10587186
|
A | C | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1028-3276A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587186 | ||||||
| chr21:10587313
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-3149C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587313 | ||||||
| chr21:10587348
|
T | G | 1 | a0001c0003t0002g0009 | 2 | HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1028-3114T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587348 | ||||||
| chr21:10587470
|
T | C | 1 | a0001c0003t0002g0116 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1028-2992T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587470 | ||||||
| chr21:10587610
|
C | T | 1 | a0003c0004t0003g0018 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1028-2852C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587610 | ||||||
| chr21:10587688
|
T | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-2774T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587688 | ||||||
| chr21:10587763
|
T | G | 1 | a0002c0002t0001g0160 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1028-2699T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587763 | ||||||
| chr21:10587769
|
C | T | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1028-2693C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587769 | ||||||
| chr21:10587842
|
G | A | 1 | a0005c0006t0002g0133 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1028-2620G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587842 | ||||||
| chr21:10587872
|
T | C | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1028-2590T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587872 | ||||||
| chr21:10587934
|
C | T | 1 | a0001c0001t0005g0020 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1028-2528C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587934 | ||||||
| chr21:10587937
|
C | T | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1028-2525C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587937 | ||||||
| chr21:10587951
|
C | T | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1028-2511C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587951 | ||||||
| chr21:10587984
|
G | A | 1 | a0009c0025t0002g0119 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1028-2478G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10587984 | ||||||
| chr21:10588000
|
C | A | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1028-2462C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588000 | ||||||
| chr21:10588088
|
A | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1028-2374A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588088 | ||||||
| chr21:10588117
|
G | A | 9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1028-2345G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588117 | ||||||
| chr21:10588197
|
G | GT | 4 | a0001c0001t0004g0008a0001c0012t0002g0129a0004c0005t0001g0155others(1): Show | 5 | HG00738.hp2 HG01257.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.1028-2252dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10588197 | |||||
| chr21:10588197
|
GT | G | 119 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(116): Show | 125 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(122): Show |
intron_variant | MODIFIER | c.1028-2252delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10588197 | |||||
| chr21:10588274
|
G | A | 1 | a0003c0004t0003g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1028-2188G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588274 | ||||||
| chr21:10588468
|
T | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1994T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588468 | ||||||
| chr21:10588475
|
G | C | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1028-1987G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588475 | ||||||
| chr21:10588525
|
C | T | 1 | a0018c0021t0003g0046 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1028-1937C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588525 | ||||||
| chr21:10588652
|
A | G | 2 | a0001c0003t0002g0128a0009c0025t0002g0119 | 2 | HG01169.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1028-1810A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588652 | ||||||
| chr21:10588761
|
A | G | 4 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122others(1): Show | 4 | HG01496.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1028-1701A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10588761 | ||||||
| chr21:10589059
|
T | C | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1028-1403T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589059 | ||||||
| chr21:10589173
|
A | G | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1028-1289A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589173 | ||||||
| chr21:10589212
|
T | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1250T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589212 | ||||||
| chr21:10589221
|
A | G | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1241A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589221 | ||||||
| chr21:10589229
|
A | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1233A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589229 | ||||||
| chr21:10589234
|
A | G | 1 | a0005c0006t0002g0133 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1028-1228A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589234 | ||||||
| chr21:10589244
|
G | A | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1218G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589244 | ||||||
| chr21:10589246
|
G | T | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.1028-1216G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589246 | ||||||
| chr21:10589253
|
C | A | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1209C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589253 | ||||||
| chr21:10589303
|
A | G | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1159A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589303 | ||||||
| chr21:10589325
|
T | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1137T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589325 | ||||||
| chr21:10589326
|
G | A | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1028-1136G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589326 | ||||||
| chr21:10589344
|
A | G | 142 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(139): Show | 150 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.1028-1118A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589344 | ||||||
| chr21:10589372
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-1090T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589372 | ||||||
| chr21:10589441
|
CCTGAGTA others(60): Show |
C | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1028-1019_1028-953 others(70): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | 10589441 | |||||
| chr21:10589482
|
A | G | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 57 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.1028-980A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589482 | ||||||
| chr21:10589498
|
C | T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 57 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.1028-964C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589498 | ||||||
| chr21:10589548
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1028-914C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589548 | ||||||
| chr21:10589679
|
G | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1028-783G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589679 | ||||||
| chr21:10589823
|
G | C | 1 | a0003c0004t0003g0054 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1028-639G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589823 | ||||||
| chr21:10589905
|
G | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1028-557G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10589905 | ||||||
| chr21:10590120
|
A | G | 1 | a0001c0003t0002g0111 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1028-342A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10590120 | ||||||
| chr21:10590174
|
T | G | 107 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(104): Show | 112 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1028-288T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10590174 | ||||||
| chr21:10590291
|
A | G | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1028-171A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10590291 | ||||||
| chr21:10590315
|
T | C | 9 | a0001c0001t0004g0067a0001c0001t0004g0068a0001c0001t0004g0069others(6): Show | 9 | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.1028-147T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10590315 | ||||||
| chr21:10590327
|
C | T | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1028-135C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | chr21 | 10590327 | ||||||
| chr21:10590691
|
T | G | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1089+168T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10590691 | ||||||
| chr21:10590822
|
A | G | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1089+299A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10590822 | ||||||
| chr21:10591260
|
T | G | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1089+737T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591260 | ||||||
| chr21:10591512
|
G | T | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.1090-781G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591512 | ||||||
| chr21:10591559
|
C | G | 1 | a0006c0007t0002g0143 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1090-734C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591559 | ||||||
| chr21:10591587
|
T | C | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1090-706T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591587 | ||||||
| chr21:10591652
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1090-641G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591652 | ||||||
| chr21:10591675
|
T | G | 4 | a0001c0003t0002g0120a0001c0003t0002g0121a0001c0003t0002g0122others(1): Show | 4 | HG01496.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1090-618T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591675 | ||||||
| chr21:10591736
|
T | A | 1 | a0002c0002t0001g0148 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.1090-557T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591736 | ||||||
| chr21:10591897
|
T | A | 7 | a0001c0003t0002g0098a0001c0003t0002g0101a0001c0003t0002g0103others(4): Show | 7 | HG00423.hp1 HG02040.hp2 NA18940.hp1 others(4): Show |
intron_variant | MODIFIER | c.1090-396T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10591897 | ||||||
| chr21:10592019
|
G | C | 1 | a0001c0001t0004g0089 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1090-274G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10592019 | ||||||
| chr21:10592162
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1090-131C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10592162 | ||||||
| chr21:10592166
|
A | C | 13 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(10): Show | 14 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1090-127A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10592166 | ||||||
| chr21:10592204
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1090-89G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10592204 | ||||||
| chr21:10592267
|
T | C | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1090-26T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 18/23 | chr21 | 10592267 | ||||||
| chr21:10592390
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1170+17A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592390 | ||||||
| chr21:10592416
|
G | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1170+43G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592416 | ||||||
| chr21:10592439
|
T | C | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.1170+66T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592439 | ||||||
| chr21:10592488
|
G | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1170+115G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592488 | ||||||
| chr21:10592509
|
G | T | 15 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(12): Show | 15 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.1170+136G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592509 | ||||||
| chr21:10592551
|
C | T | 2 | a0001c0001t0004g0077a0001c0001t0004g0078 | 2 | HG02630.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1170+178C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592551 | ||||||
| chr21:10592629
|
T | C | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1170+256T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592629 | ||||||
| chr21:10592696
|
T | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1170+323T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592696 | ||||||
| chr21:10592716
|
T | C | 2 | a0005c0006t0002g0134a0005c0006t0002g0135 | 2 | NA18612.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.1170+343T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592716 | ||||||
| chr21:10592792
|
T | C | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1170+419T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592792 | ||||||
| chr21:10592805
|
G | GGT | 9 | a0001c0001t0004g0093a0002c0002t0001g0148a0002c0002t0001g0167others(6): Show | 10 | HG01346.hp2 HG02040.hp1 HG03491.hp1 others(7): Show |
intron_variant | MODIFIER | c.1170+459_1170+460d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGT | 32 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0065others(29): Show | 33 | HG00099.hp2 HG00544.hp1 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.1170+457_1170+460d others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGT | 2 | a0001c0001t0004g0007a0001c0001t0004g0082 | 3 | HG01516.hp1 HG01517.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1170+455_1170+460d others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(5): Show |
4 | a0001c0003t0002g0124a0005c0006t0002g0138a0008c0009t0008g0016others(1): Show | 4 | HG02717.hp2 HG03098.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1170+449_1170+460d others(14): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(7): Show |
6 | a0001c0003t0002g0137a0005c0006t0002g0130a0005c0006t0002g0131others(3): Show | 6 | HG01256.hp2 HG01346.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.1170+447_1170+460d others(16): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(9): Show |
15 | a0001c0001t0006g0099a0001c0003t0002g0101a0001c0003t0002g0116others(12): Show | 15 | HG01169.hp1 HG01496.hp1 HG02040.hp2 others(12): Show |
intron_variant | MODIFIER | c.1170+445_1170+460d others(18): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(11): Show |
11 | a0001c0003t0002g0001a0001c0003t0002g0103a0001c0003t0002g0108others(8): Show | 13 | HG00423.hp1 HG00597.hp1 HG02683.hp2 others(10): Show |
intron_variant | MODIFIER | c.1170+443_1170+460d others(20): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(13): Show |
13 | a0001c0001t0006g0097a0001c0003t0002g0009a0001c0003t0002g0098others(10): Show | 14 | HG00544.hp2 HG02129.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1170+441_1170+460d others(22): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTGTGTG others(15): Show |
2 | a0001c0003t0002g0125a0015c0013t0002g0110 | 2 | HG03225.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.1170+439_1170+460d others(24): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592805
|
G | GGTTGTGT others(10): Show |
1 | a0001c0003t0002g0123 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1170+434_1170+435i others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10592805 | |||||
| chr21:10592819
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+446T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592819 | ||||||
| chr21:10592831
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+458T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592831 | ||||||
| chr21:10592841
|
G | A | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1170+468G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592841 | ||||||
| chr21:10592857
|
G | A | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1170+484G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592857 | ||||||
| chr21:10592858
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+485T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592858 | ||||||
| chr21:10592886
|
A | T | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+513A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592886 | ||||||
| chr21:10592892
|
A | T | 16 | a0001c0003t0002g0137a0001c0012t0002g0129a0005c0006t0002g0130others(13): Show | 16 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.1170+519A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592892 | ||||||
| chr21:10592940
|
A | G | 1 | a0007c0008t0004g0073 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1170+567A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592940 | ||||||
| chr21:10592950
|
A | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+577A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592950 | ||||||
| chr21:10592965
|
G | A | 52 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(49): Show | 55 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1170+592G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592965 | ||||||
| chr21:10592974
|
A | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+601A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592974 | ||||||
| chr21:10592995
|
T | C | 48 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(45): Show | 51 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.1170+622T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10592995 | ||||||
| chr21:10593089
|
A | T | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+716A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593089 | ||||||
| chr21:10593106
|
C | T | 9 | a0004c0005t0001g0145a0004c0005t0001g0154a0004c0005t0001g0155others(6): Show | 9 | HG01099.hp2 HG01123.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.1170+733C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593106 | ||||||
| chr21:10593111
|
G | T | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+738G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593111 | ||||||
| chr21:10593121
|
A | T | 1 | a0001c0001t0004g0066 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1170+748A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593121 | ||||||
| chr21:10593129
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+756T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593129 | ||||||
| chr21:10593136
|
C | T | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+763C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593136 | ||||||
| chr21:10593137
|
T | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+764T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593137 | ||||||
| chr21:10593138
|
C | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+765C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593138 | ||||||
| chr21:10593147
|
C | A | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+774C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593147 | ||||||
| chr21:10593159
|
A | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1170+786A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593159 | ||||||
| chr21:10593174
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+801T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593174 | ||||||
| chr21:10593195
|
G | T | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.1170+822G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593195 | ||||||
| chr21:10593212
|
C | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1170+839C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593212 | ||||||
| chr21:10593291
|
T | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+918T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593291 | ||||||
| chr21:10593304
|
A | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+931A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593304 | ||||||
| chr21:10593308
|
T | A | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+935T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593308 | ||||||
| chr21:10593309
|
A | G | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+936A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593309 | ||||||
| chr21:10593330
|
A | C | 1 | a0001c0023t0003g0028 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1170+957A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593330 | ||||||
| chr21:10593526
|
G | A | 1 | a0003c0004t0003g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1170+1153G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593526 | ||||||
| chr21:10593636
|
C | T | 1 | a0001c0003t0002g0106 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1170+1263C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593636 | ||||||
| chr21:10593682
|
T | G | 1 | a0004c0005t0001g0150 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1170+1309T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593682 | ||||||
| chr21:10593754
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1170+1381C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593754 | ||||||
| chr21:10593779
|
G | A | 1 | a0005c0006t0002g0132 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1170+1406G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10593779 | ||||||
| chr21:10594031
|
C | T | 1 | a0001c0001t0004g0083 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1170+1658C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594031 | ||||||
| chr21:10594058
|
T | C | 107 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(104): Show | 112 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1170+1685T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594058 | ||||||
| chr21:10594138
|
T | C | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1170+1765T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594138 | ||||||
| chr21:10594537
|
G | A | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 55 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(52): Show |
intron_variant | MODIFIER | c.1171-1445G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594537 | ||||||
| chr21:10594618
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1171-1364C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594618 | ||||||
| chr21:10594664
|
C | G | 1 | a0001c0003t0002g0108 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1171-1318C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594664 | ||||||
| chr21:10594687
|
C | T | 2 | a0001c0001t0004g0008a0002c0002t0001g0171 | 3 | HG00738.hp2 HG01516.hp2 HG02602.hp1 |
intron_variant | MODIFIER | c.1171-1295C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594687 | ||||||
| chr21:10594743
|
A | G | 1 | a0001c0001t0004g0065 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1171-1239A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594743 | ||||||
| chr21:10594835
|
G | A | 2 | a0003c0004t0003g0095a0003c0004t0003g0096 | 2 | HG01943.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.1171-1147G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594835 | ||||||
| chr21:10594979
|
C | T | 1 | a0001c0003t0002g0108 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1171-1003C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10594979 | ||||||
| chr21:10595041
|
T | C | 1 | a0004c0005t0001g0185 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1171-941T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595041 | ||||||
| chr21:10595051
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1171-931T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595051 | ||||||
| chr21:10595082
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1171-900G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595082 | ||||||
| chr21:10595128
|
G | A | 8 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0079others(5): Show | 9 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1171-854G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595128 | ||||||
| chr21:10595290
|
G | A | 143 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(140): Show | 150 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.1171-692G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595290 | ||||||
| chr21:10595302
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1171-680C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595302 | ||||||
| chr21:10595541
|
T | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1171-441T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595541 | ||||||
| chr21:10595729
|
A | C | 1 | a0018c0021t0003g0046 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1171-253A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595729 | ||||||
| chr21:10595784
|
A | C | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1171-198A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | chr21 | 10595784 | ||||||
| chr21:10595796
|
A | AT | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1171-181dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10595796 | |||||
| chr21:10595909
|
C | CA | 40 | a0001c0001t0006g0097a0001c0003t0002g0001a0001c0003t0002g0098others(37): Show | 43 | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.1171-60dupA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10595909 | |||||
| chr21:10595909
|
C | CAA | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 58 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.1171-61_1171-60dup others(2): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10595909 | |||||
| chr21:10595909
|
C | CAAA | 36 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(33): Show | 38 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(35): Show |
intron_variant | MODIFIER | c.1171-62_1171-60dup others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | 10595909 | |||||
| chr21:10596135
|
C | T | 53 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(50): Show | 56 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1276+48C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596135 | ||||||
| chr21:10596164
|
T | C | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1276+77T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596164 | ||||||
| chr21:10596167
|
A | G | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+80A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596167 | ||||||
| chr21:10596195
|
T | C | 1 | a0001c0001t0004g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1276+108T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596195 | ||||||
| chr21:10596282
|
C | G | 3 | a0001c0003t0002g0100a0001c0003t0002g0107a0001c0003t0002g0118 | 3 | HG00544.hp2 NA18953.hp2 NA19000.hp2 |
intron_variant | MODIFIER | c.1276+195C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596282 | ||||||
| chr21:10596383
|
G | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1276+296G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596383 | ||||||
| chr21:10596390
|
G | A | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+303G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596390 | ||||||
| chr21:10596410
|
G | A | 1 | a0001c0001t0003g0041 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1276+323G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596410 | ||||||
| chr21:10596465
|
A | G | 2 | a0001c0003t0002g0123a0001c0003t0002g0128 | 2 | HG01169.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1276+378A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596465 | ||||||
| chr21:10596469
|
T | G | 3 | a0001c0001t0004g0094a0008c0009t0008g0016a0008c0009t0009g0015 | 3 | HG02647.hp1 HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1276+382T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596469 | ||||||
| chr21:10596492
|
G | A | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1276+405G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596492 | ||||||
| chr21:10596500
|
T | C | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1276+413T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596500 | ||||||
| chr21:10596512
|
C | T | 1 | a0004c0005t0001g0147 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1276+425C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596512 | ||||||
| chr21:10596527
|
T | TA | 54 | a0001c0001t0004g0071a0001c0001t0006g0097a0001c0001t0006g0099others(51): Show | 57 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.1276+440_1276+441i others(3): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596527 | ||||||
| chr21:10596566
|
C | G | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+479C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596566 | ||||||
| chr21:10596626
|
T | C | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1276+539T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596626 | ||||||
| chr21:10596632
|
T | G | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1276+545T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596632 | ||||||
| chr21:10596643
|
G | A | 3 | a0001c0001t0004g0090a0001c0001t0004g0091a0001c0020t0005g0049 | 3 | NA18970.hp2 NA18971.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.1276+556G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596643 | ||||||
| chr21:10596649
|
G | A | 1 | a0002c0002t0001g0151 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1276+562G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596649 | ||||||
| chr21:10596650
|
C | A | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1276+563C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596650 | ||||||
| chr21:10596669
|
G | A | 4 | a0001c0001t0004g0081a0001c0001t0004g0090a0001c0001t0004g0091others(1): Show | 4 | HG03017.hp2 NA18970.hp2 NA18971.hp2 others(1): Show |
intron_variant | MODIFIER | c.1276+582G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596669 | ||||||
| chr21:10596672
|
G | A | 1 | a0005c0006t0002g0132 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1276+585G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596672 | ||||||
| chr21:10596674
|
T | G | 2 | a0001c0001t0004g0081a0001c0020t0005g0049 | 2 | HG03017.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.1276+587T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596674 | ||||||
| chr21:10596687
|
C | T | 3 | a0001c0001t0001g0159a0001c0001t0004g0081a0002c0002t0007g0003 | 4 | HG02135.hp2 HG03017.hp2 NA19056.hp1 others(1): Show |
intron_variant | MODIFIER | c.1276+600C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596687 | ||||||
| chr21:10596695
|
C | A | 1 | a0001c0001t0004g0081 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1276+608C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596695 | ||||||
| chr21:10596696
|
A | G | 1 | a0001c0001t0004g0081 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1276+609A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596696 | ||||||
| chr21:10596765
|
A | G | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1276+678A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596765 | ||||||
| chr21:10596839
|
A | C | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+752A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596839 | ||||||
| chr21:10596844
|
T | A | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+757T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596844 | ||||||
| chr21:10596886
|
T | C | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+799T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596886 | ||||||
| chr21:10596930
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1276+843A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596930 | ||||||
| chr21:10596940
|
A | G | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1276+853A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596940 | ||||||
| chr21:10596976
|
C | T | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1276+889C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10596976 | ||||||
| chr21:10597308
|
T | A | 16 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(13): Show | 17 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-707T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597308 | ||||||
| chr21:10597412
|
C | CT | 5 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0020t0005g0049others(2): Show | 6 | HG03098.hp2 NA18997.hp1 NA19056.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-584dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr21 | 10597412 | |||||
| chr21:10597412
|
CT | C | 16 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0071others(13): Show | 17 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-584delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr21 | 10597412 | |||||
| chr21:10597412
|
CTT | C | 47 | a0001c0001t0006g0097a0001c0003t0002g0001a0001c0003t0002g0009others(44): Show | 50 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.1277-585_1277-584d others(4): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr21 | 10597412 | |||||
| chr21:10597417
|
T | C | 3 | a0003c0004t0003g0035a0003c0004t0003g0036a0003c0004t0003g0040 | 3 | NA18963.hp1 NA18981.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.1277-598T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597417 | ||||||
| chr21:10597421
|
T | C | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1277-594T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597421 | ||||||
| chr21:10597483
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1277-532C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597483 | ||||||
| chr21:10597522
|
C | G | 2 | a0001c0003t0002g0128a0009c0025t0002g0119 | 2 | HG01169.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1277-493C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597522 | ||||||
| chr21:10597667
|
G | A | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1277-348G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597667 | ||||||
| chr21:10597699
|
G | A | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1277-316G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597699 | ||||||
| chr21:10597703
|
C | A | 2 | a0003c0004t0003g0057a0003c0004t0003g0059 | 2 | NA18975.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.1277-312C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597703 | ||||||
| chr21:10597712
|
G | A | 1 | a0001c0001t0004g0083 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1277-303G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597712 | ||||||
| chr21:10597713
|
C | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1277-302C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597713 | ||||||
| chr21:10597730
|
T | C | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1277-285T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597730 | ||||||
| chr21:10597739
|
G | C | 2 | a0005c0006t0002g0130a0005c0006t0002g0138 | 2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1277-276G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597739 | ||||||
| chr21:10597761
|
C | G | 1 | a0003c0004t0003g0013 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.1277-254C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597761 | ||||||
| chr21:10597788
|
AT | A | 53 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(50): Show | 56 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1277-219delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr21 | 10597788 | |||||
| chr21:10597862
|
A | G | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1277-153A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 20/23 | chr21 | 10597862 | ||||||
| chr21:10598274
|
T | G | 16 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(13): Show | 17 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.1356+180T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598274 | ||||||
| chr21:10598435
|
G | A | 1 | a0005c0006t0002g0138 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1356+341G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598435 | ||||||
| chr21:10598454
|
T | C | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 56 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(53): Show |
intron_variant | MODIFIER | c.1356+360T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598454 | ||||||
| chr21:10598524
|
G | C | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1356+430G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598524 | ||||||
| chr21:10598603
|
T | C | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1356+509T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598603 | ||||||
| chr21:10598662
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1356+568G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598662 | ||||||
| chr21:10598771
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1356+677A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598771 | ||||||
| chr21:10598783
|
C | T | 16 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(13): Show | 17 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.1356+689C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598783 | ||||||
| chr21:10598831
|
A | G | 8 | a0001c0001t0004g0007a0001c0001t0004g0066a0001c0001t0004g0079others(5): Show | 9 | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1356+737A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598831 | ||||||
| chr21:10598836
|
T | G | 1 | a0005c0006t0002g0132 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1356+742T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598836 | ||||||
| chr21:10598840
|
C | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1356+746C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598840 | ||||||
| chr21:10598851
|
C | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1356+757C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10598851 | ||||||
| chr21:10599016
|
A | G | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1356+922A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599016 | ||||||
| chr21:10599159
|
C | T | 27 | a0001c0001t0003g0030a0001c0001t0003g0061a0003c0004t0003g0005others(24): Show | 28 | HG01099.hp1 HG01123.hp2 HG01943.hp1 others(25): Show |
intron_variant | MODIFIER | c.1356+1065C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599159 | ||||||
| chr21:10599193
|
C | T | 1 | a0001c0001t0006g0097 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1356+1099C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599193 | ||||||
| chr21:10599196
|
C | G | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1356+1102C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599196 | ||||||
| chr21:10599222
|
C | T | 1 | a0001c0012t0002g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1356+1128C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599222 | ||||||
| chr21:10599224
|
CTG | C | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1356+1132_1356+113 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599224 | |||||
| chr21:10599252
|
A | T | 1 | a0002c0002t0001g0165 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.1356+1158A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599252 | ||||||
| chr21:10599279
|
G | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1356+1185G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599279 | ||||||
| chr21:10599365
|
T | C | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.1356+1271T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599365 | ||||||
| chr21:10599537
|
A | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1356+1443A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599537 | ||||||
| chr21:10599772
|
C | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1356+1678C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599772 | ||||||
| chr21:10599799
|
T | TTTAG | 2 | a0002c0002t0007g0003a0009c0025t0002g0119 | 3 | HG03225.hp1 NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1356+1732_1356+173 others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599799 | |||||
| chr21:10599799
|
TTTAG | T | 41 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(38): Show | 44 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.1356+1732_1356+173 others(8): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599799 | |||||
| chr21:10599799
|
TTTAGTTA others(1): Show |
T | 55 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(52): Show | 56 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.1356+1728_1356+173 others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599799 | |||||
| chr21:10599830
|
G | A | 10 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(7): Show | 11 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1356+1736G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599830 | ||||||
| chr21:10599831
|
G | GTTAGTTA others(9): Show |
1 | a0001c0003t0002g0120 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1356+1739_1356+174 others(20): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599831 | |||||
| chr21:10599831
|
G | GTTAGTTG others(5): Show |
4 | a0001c0003t0002g0009a0001c0003t0002g0121a0001c0003t0002g0122others(1): Show | 5 | HG02280.hp1 HG02886.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1356+1739_1356+174 others(16): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599831 | |||||
| chr21:10599831
|
G | GTTGTTTC others(1): Show |
5 | a0001c0003t0002g0123a0001c0003t0002g0125a0001c0003t0002g0126others(2): Show | 5 | HG01169.hp1 HG02630.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.1356+1739_1356+174 others(12): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599831 | |||||
| chr21:10599831
|
G | T | 40 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(37): Show | 42 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(39): Show |
intron_variant | MODIFIER | c.1356+1737G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10599831 | ||||||
| chr21:10599860
|
CT | C | 17 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0137others(14): Show | 17 | HG01256.hp2 HG01346.hp1 HG02056.hp2 others(14): Show |
intron_variant | MODIFIER | c.1356+1778delT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10599860 | |||||
| chr21:10600094
|
G | C | 11 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(8): Show | 12 | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1357-1964G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600094 | ||||||
| chr21:10600103
|
CATT | C | 16 | a0001c0001t0004g0006a0001c0001t0004g0065a0001c0001t0004g0067others(13): Show | 17 | HG00099.hp2 HG01169.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.1357-1951_1357-194 others(7): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10600103 | |||||
| chr21:10600140
|
C | CT | 70 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0004g0006others(67): Show | 75 | HG00099.hp2 HG00733.hp1 HG00738.hp2 others(72): Show |
intron_variant | MODIFIER | c.1357-1902dupT | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10600140 | |||||
| chr21:10600140
|
C | CTT | 48 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(45): Show | 49 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(46): Show |
intron_variant | MODIFIER | c.1357-1903_1357-190 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10600140 | |||||
| chr21:10600140
|
C | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1357-1918C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600140 | ||||||
| chr21:10600142
|
T | TTC | 18 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0101others(15): Show | 20 | HG00423.hp1 HG00597.hp1 HG02040.hp2 others(17): Show |
intron_variant | MODIFIER | c.1357-1915_1357-191 others(6): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | 10600142 | |||||
| chr21:10600200
|
C | T | 1 | a0001c0001t0006g0099 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1357-1858C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600200 | ||||||
| chr21:10600201
|
G | A | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1357-1857G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600201 | ||||||
| chr21:10600241
|
G | C | 1 | a0002c0002t0001g0194 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1357-1817G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600241 | ||||||
| chr21:10600339
|
G | A | 2 | a0001c0001t0004g0075a0001c0001t0004g0076 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1357-1719G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600339 | ||||||
| chr21:10600577
|
G | A | 3 | a0001c0020t0005g0049a0008c0009t0008g0016a0008c0009t0009g0015 | 3 | HG02717.hp2 HG03471.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.1357-1481G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600577 | ||||||
| chr21:10600809
|
G | T | 107 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(104): Show | 112 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1357-1249G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10600809 | ||||||
| chr21:10601064
|
A | G | 54 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(51): Show | 56 | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(53): Show |
intron_variant | MODIFIER | c.1357-994A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601064 | ||||||
| chr21:10601331
|
C | T | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1357-727C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601331 | ||||||
| chr21:10601535
|
C | A | 21 | a0001c0003t0002g0001a0001c0003t0002g0098a0001c0003t0002g0100others(18): Show | 23 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1357-523C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601535 | ||||||
| chr21:10601565
|
A | T | 9 | a0001c0003t0002g0009a0001c0003t0002g0120a0001c0003t0002g0121others(6): Show | 10 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1357-493A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601565 | ||||||
| chr21:10601655
|
C | G | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1357-403C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601655 | ||||||
| chr21:10601663
|
C | G | 53 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(50): Show | 56 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1357-395C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601663 | ||||||
| chr21:10601670
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1357-388T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601670 | ||||||
| chr21:10601743
|
C | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1357-315C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601743 | ||||||
| chr21:10601751
|
G | A | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1357-307G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601751 | ||||||
| chr21:10601802
|
G | A | 1 | a0003c0004t0003g0025 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1357-256G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601802 | ||||||
| chr21:10601809
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1357-249T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601809 | ||||||
| chr21:10601830
|
G | A | 1 | a0001c0001t0004g0071 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1357-228G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601830 | ||||||
| chr21:10601880
|
C | T | 3 | a0001c0003t0002g0125a0001c0003t0002g0126a0001c0003t0002g0127 | 3 | HG02630.hp1 HG02895.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1357-178C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601880 | ||||||
| chr21:10601954
|
C | G | 6 | a0001c0001t0001g0159a0001c0001t0004g0080a0001c0001t0004g0082others(3): Show | 6 | HG02027.hp1 HG02135.hp2 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.1357-104C>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | chr21 | 10601954 | ||||||
| chr21:10602166
|
G | A | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1449+16G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602166 | ||||||
| chr21:10602204
|
C | A | 43 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(40): Show | 46 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(43): Show |
intron_variant | MODIFIER | c.1449+54C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602204 | ||||||
| chr21:10602204
|
C | T | 3 | a0005c0006t0002g0131a0008c0009t0008g0016a0008c0009t0009g0015 | 3 | HG01256.hp2 HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1449+54C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602204 | ||||||
| chr21:10602207
|
G | T | 3 | a0005c0006t0002g0131a0008c0009t0008g0016a0008c0009t0009g0015 | 3 | HG01256.hp2 HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1449+57G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602207 | ||||||
| chr21:10602209
|
A | C | 1 | a0005c0006t0002g0131 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1449+59A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602209 | ||||||
| chr21:10602227
|
A | G | 2 | a0001c0001t0005g0062a0001c0023t0003g0028 | 2 | NA18945.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1449+77A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602227 | ||||||
| chr21:10602246
|
T | G | 5 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0071others(2): Show | 5 | HG02717.hp2 HG03098.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1449+96T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602246 | ||||||
| chr21:10602254
|
A | G | 3 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0071 | 3 | HG03098.hp2 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1449+104A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602254 | ||||||
| chr21:10602262
|
A | G | 1 | a0001c0003t0002g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1449+112A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602262 | ||||||
| chr21:10602298
|
G | A | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.1449+148G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602298 | ||||||
| chr21:10602314
|
A | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1449+164A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602314 | ||||||
| chr21:10602371
|
C | T | 50 | a0001c0001t0006g0097a0001c0001t0006g0099a0001c0003t0002g0001others(47): Show | 53 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.1449+221C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602371 | ||||||
| chr21:10602427
|
TA | T | 140 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(137): Show | 147 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(144): Show |
intron_variant | MODIFIER | c.1449+289delA | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr21 | 10602427 | |||||
| chr21:10602468
|
T | A | 106 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(103): Show | 111 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1449+318T>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602468 | ||||||
| chr21:10602510
|
A | G | 1 | a0003c0004t0003g0038 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1449+360A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602510 | ||||||
| chr21:10602529
|
G | C | 1 | a0003c0004t0003g0038 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1449+379G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602529 | ||||||
| chr21:10602554
|
A | G | 35 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(32): Show | 37 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(34): Show |
intron_variant | MODIFIER | c.1449+404A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602554 | ||||||
| chr21:10602745
|
G | A | 7 | a0001c0001t0001g0159a0001c0001t0004g0080a0001c0001t0004g0082others(4): Show | 7 | HG02027.hp1 HG02135.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.1449+595G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602745 | ||||||
| chr21:10602757
|
ACTTCG | A | 27 | a0001c0001t0003g0030a0001c0001t0003g0061a0003c0004t0003g0005others(24): Show | 28 | HG01099.hp1 HG01123.hp2 HG01943.hp1 others(25): Show |
intron_variant | MODIFIER | c.1449+609_1449+613d others(7): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr21 | 10602757 | |||||
| chr21:10602774
|
A | G | 28 | a0001c0001t0003g0030a0001c0001t0003g0061a0002c0002t0007g0003others(25): Show | 30 | HG01099.hp1 HG01123.hp2 HG01943.hp1 others(27): Show |
intron_variant | MODIFIER | c.1449+624A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602774 | ||||||
| chr21:10602791
|
A | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1449+641A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602791 | ||||||
| chr21:10602805
|
C | T | 53 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(50): Show | 54 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(51): Show |
intron_variant | MODIFIER | c.1449+655C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602805 | ||||||
| chr21:10602877
|
G | T | 1 | a0001c0001t0005g0048 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1450-685G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602877 | ||||||
| chr21:10602900
|
C | A | 1 | a0001c0001t0005g0048 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1450-662C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602900 | ||||||
| chr21:10602901
|
G | A | 17 | a0001c0003t0002g0137a0003c0004t0003g0025a0003c0004t0003g0054others(14): Show | 17 | HG01123.hp2 HG01256.hp2 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.1450-661G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602901 | ||||||
| chr21:10602906
|
G | A | 1 | a0001c0001t0005g0048 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1450-656G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602906 | ||||||
| chr21:10602911
|
A | T | 3 | a0002c0002t0001g0152a0002c0002t0001g0153a0002c0002t0001g0194 | 3 | HG00597.hp2 HG02083.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.1450-651A>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602911 | ||||||
| chr21:10602923
|
T | C | 1 | a0001c0001t0005g0048 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1450-639T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602923 | ||||||
| chr21:10602933
|
T | C | 1 | a0001c0001t0005g0048 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1450-629T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10602933 | ||||||
| chr21:10603019
|
T | C | 2 | a0001c0001t0006g0097a0001c0001t0006g0099 | 2 | HG02886.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1450-543T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603019 | ||||||
| chr21:10603121
|
G | A | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1450-441G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603121 | ||||||
| chr21:10603148
|
C | T | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1450-414C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603148 | ||||||
| chr21:10603201
|
A | G | 47 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(44): Show | 50 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.1450-361A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603201 | ||||||
| chr21:10603424
|
T | C | 2 | a0001c0001t0004g0090a0001c0001t0004g0091 | 2 | NA18970.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1450-138T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603424 | ||||||
| chr21:10603554
|
C | T | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG03098.hp2 NA21309.hp2 |
splice_region_variant&intron_variant | LOW | c.1450-8C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 22/23 | chr21 | 10603554 | ||||||
| chr21:10603654
|
A | G | 1 | a0011c0016t0001g0184 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1520+22A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603654 | ||||||
| chr21:10603732
|
A | G | 1 | a0001c0001t0004g0008 | 2 | HG00738.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.1520+100A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603732 | ||||||
| chr21:10603867
|
G | A | 1 | a0002c0002t0001g0149 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1520+235G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603867 | ||||||
| chr21:10603929
|
A | G | 34 | a0001c0001t0001g0159a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 36 | HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1520+297A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603929 | ||||||
| chr21:10603953
|
A | G | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1520+321A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603953 | ||||||
| chr21:10603973
|
T | C | 1 | a0002c0002t0007g0003 | 2 | NA19056.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.1520+341T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10603973 | ||||||
| chr21:10604243
|
C | A | 3 | a0001c0001t0003g0041a0001c0001t0003g0042a0001c0001t0003g0063 | 3 | HG02698.hp1 HG03017.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.1520+611C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604243 | ||||||
| chr21:10604253
|
A | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1520+621A>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604253 | ||||||
| chr21:10604299
|
C | T | 1 | a0001c0001t0005g0052 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1520+667C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604299 | ||||||
| chr21:10604474
|
T | C | 2 | a0008c0009t0008g0016a0008c0009t0009g0015 | 2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1520+842T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604474 | ||||||
| chr21:10604548
|
A | G | 4 | a0001c0001t0003g0022a0001c0001t0003g0023a0003c0004t0003g0013others(1): Show | 4 | HG01928.hp2 NA18974.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.1521-869A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604548 | ||||||
| chr21:10604587
|
T | G | 144 | a0001c0001t0001g0159a0001c0001t0003g0004a0001c0001t0003g0021others(141): Show | 152 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.1521-830T>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604587 | ||||||
| chr21:10604806
|
C | A | 18 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0029others(15): Show | 18 | HG00733.hp2 HG00741.hp1 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.1521-611C>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604806 | ||||||
| chr21:10604829
|
G | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1521-588G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604829 | ||||||
| chr21:10604915
|
A | G | 1 | a0012c0014t0002g0104 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.1521-502A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10604915 | ||||||
| chr21:10605008
|
C | T | 1 | a0001c0020t0005g0049 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1521-409C>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605008 | ||||||
| chr21:10605078
|
A | G | 1 | a0001c0001t0004g0094 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1521-339A>G | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605078 | ||||||
| chr21:10605249
|
G | T | 47 | a0001c0003t0002g0001a0001c0003t0002g0009a0001c0003t0002g0098others(44): Show | 50 | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.1521-168G>T | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605249 | ||||||
| chr21:10605294
|
G | A | 1 | a0001c0001t0004g0065 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1521-123G>A | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605294 | ||||||
| chr21:10605300
|
G | C | 1 | a0001c0003t0011g0112 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1521-117G>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605300 | ||||||
| chr21:10605320
|
T | C | 53 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0022others(50): Show | 54 | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(51): Show |
intron_variant | MODIFIER | c.1521-97T>C | TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 23/23 | chr21 | 10605320 |