Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 2969 |
|---|---|
| ensemblid | ENSG00000263001.8 |
| hgncid | 4659 |
| symbol | GTF2I |
| name | general transcription factor IIi |
| refseq_nuc | NM_032999.4 |
| refseq_prot | NP_127492.1 |
| ensembl_nuc | ENST00000573035.6 |
| ensembl_prot | ENSP00000460070.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 74657718 |
| end | 74760692 |
| strand | + |
| ver | v1.2 |
| region | chr7:74657718-74760692 |
| region5000 | chr7:74652718-74765692 |
| regionname0 | GTF2I_chr7_74657718_74760692 |
| regionname5000 | GTF2I_chr7_74652718_74765692 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 998 | 170 | 70 | 35 | 33 | 10 | 20 | 23 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0002 | 0/0 | 998 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0003 | 0/0 | 998 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 2997 | 140 | 62 | 29 | 29 | 7 | 13 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0002 | 1/1 | 2997 | 26 | 6 | 6 | 3 | 2 | 7 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0003 | 0/0 | 2997 | 3 | 2 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0004 | 0/0 | 2997 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0005 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0006 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| c0007 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 1519 | 84 | 45 | 12 | 11 | 5 | 9 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0002 | 0/0 | 1519 | 77 | 21 | 20 | 20 | 5 | 11 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0003 | 0/0 | 1519 | 5 | 0 | 3 | 2 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0004 | 0/0 | 1520 | 4 | 4 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0005 | 0/0 | 1519 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0006 | 0/0 | 1519 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0007 | 0/0 | 1519 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| t0008 | 0/0 | 1519 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0094 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0104 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2997 | 140 | 62 | 29 | 29 | 7 | 13 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0002 | 1/1 | 2997 | 26 | 6 | 6 | 3 | 2 | 7 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0004 | 0/0 | 2997 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0005 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0007 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0002c0003 | 0/0 | 2997 | 3 | 2 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0003c0006 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4515 | 52 | 35 | 5 | 7 | 3 | 2 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0002 | 0/0 | 4515 | 75 | 21 | 20 | 19 | 4 | 11 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0003 | 0/0 | 4515 | 5 | 0 | 3 | 2 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0004 | 0/0 | 4516 | 4 | 4 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0005 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0006 | 0/0 | 4515 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0007 | 0/0 | 4515 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0001t0008 | 0/0 | 4515 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0002t0001 | 1/1 | 4515 | 26 | 6 | 6 | 3 | 2 | 7 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0004t0001 | 0/0 | 4515 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0005t0002 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0001c0007t0002 | 0/0 | 4515 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0002c0003t0001 | 0/0 | 4515 | 3 | 2 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| a0003c0006t0001 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | copy fasta | chr7 | 74652718 | 74765692 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0005g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0006g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0007g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0008g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0094 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0104 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0004t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0004t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0005t0002g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0007t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0003c0006t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0141 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00099 | hp2 | a0001 | c0002 | t0001 | g0106 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00140 | hp2 | a0001 | c0001 | t0002 | g0162 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0166 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0159 | EAS | CHS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | CHS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0041 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00738 | hp1 | a0001 | c0001 | t0007 | g0147 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0148 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0153 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01070 | hp2 | a0001 | c0001 | t0003 | g0020 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01071 | hp2 | a0001 | c0001 | t0003 | g0018 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0011 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01074 | hp2 | a0002 | c0003 | t0001 | g0009 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01109 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01168 | hp2 | a0001 | c0002 | t0001 | g0115 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01169 | hp1 | a0001 | c0002 | t0001 | g0111 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0161 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0113 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0164 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0127 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0116 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0140 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0040 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01258 | hp2 | a0001 | c0002 | t0001 | g0117 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01346 | hp1 | a0001 | c0001 | t0003 | g0017 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0154 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01515 | hp1 | a0001 | c0007 | t0002 | g0036 | EUR | IBS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01515 | hp2 | a0001 | c0002 | t0001 | g0100 | EUR | IBS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0121 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01891 | hp2 | a0001 | c0001 | t0004 | g0023 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0130 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0145 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01993 | hp2 | a0001 | c0002 | t0001 | g0105 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0169 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02056 | hp2 | a0001 | c0001 | t0002 | g0173 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02071 | hp1 | a0001 | c0001 | t0003 | g0019 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0170 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0045 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02148 | hp1 | a0001 | c0001 | t0002 | g0157 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0129 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0156 | EAS | CDX | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | CDX | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0086 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02280 | hp1 | a0001 | c0001 | t0004 | g0024 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0134 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0015 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0059 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02572 | hp1 | a0001 | c0001 | t0004 | g0022 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02615 | hp1 | a0001 | c0001 | t0002 | g0128 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02615 | hp2 | a0001 | c0002 | t0001 | g0098 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0058 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0042 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0060 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0138 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0050 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0125 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0047 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0055 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0048 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02896 | hp1 | a0001 | c0001 | t0002 | g0126 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02896 | hp2 | a0002 | c0003 | t0001 | g0008 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0123 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0043 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0066 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0039 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02965 | hp2 | a0001 | c0002 | t0001 | g0095 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03017 | hp1 | a0001 | c0002 | t0001 | g0101 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0152 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0032 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0049 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03130 | hp2 | a0001 | c0001 | t0008 | g0026 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0096 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0027 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03195 | hp2 | a0001 | c0001 | t0006 | g0072 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0025 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03225 | hp1 | a0001 | c0004 | t0001 | g0082 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0122 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0107 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0151 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0070 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03490 | hp1 | a0001 | c0002 | t0001 | g0002 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0144 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0143 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0033 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03540 | hp2 | a0002 | c0003 | t0001 | g0010 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0142 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0088 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0146 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0102 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0004 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03927 | hp2 | a0001 | c0001 | t0002 | g0013 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04184 | hp1 | a0001 | c0002 | t0001 | g0003 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04184 | hp2 | a0001 | c0002 | t0001 | g0109 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0112 | SAS | STU | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0149 | SAS | STU | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | YRI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18522 | hp2 | a0001 | c0001 | t0002 | g0046 | AFR | YRI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0135 | EAS | CHB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18612 | hp2 | a0001 | c0002 | t0001 | g0174 | EAS | CHB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18946 | hp1 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0136 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0155 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0132 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18949 | hp1 | a0001 | c0001 | t0002 | g0172 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18949 | hp2 | a0001 | c0002 | t0001 | g0114 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0171 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18973 | hp1 | a0001 | c0001 | t0002 | g0168 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18973 | hp2 | a0001 | c0001 | t0005 | g0118 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18979 | hp1 | a0001 | c0005 | t0002 | g0165 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0137 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0150 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19056 | hp2 | a0003 | c0006 | t0001 | g0133 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0167 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19082 | hp1 | a0001 | c0001 | t0002 | g0131 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | ASW | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0053 | AFR | ASW | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0119 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0139 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0163 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0087 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0124 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0108 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0075 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0038 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0103 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03471 | hp1 | a0001 | c0002 | t0001 | g0097 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0031 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA21309 | hp2 | a0001 | c0004 | t0001 | g0110 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0001 | g0094 | REF | REF | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0104 | REF | REF | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74728861
|
A | G | 1 | a0002 | 3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1019A>G | p.Asn340Ser | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/35 | 1375/4515 | 1019/2997 | 340/998 | chr7 | 74728861 | ||
| chr7:74749412
|
T | C | 1 | a0003 | 1 | NA19056.hp2 | missense_variant | MODERATE | c.2381T>C | p.Ile794Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/35 | 2737/4515 | 2381/2997 | 794/998 | chr7 | 74749412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74735489
|
T | A | 1 | a0001c0005 | 1 | NA18979.hp1 | synonymous_variant | LOW | c.1392T>A | p.Thr464Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/35 | 1748/4515 | 1392/2997 | 464/998 | chr7 | 74735489 | ||
| chr7:74753158
|
C | T | 1 | a0001c0004 | 2 | HG03225.hp1 NA21309.hp2 |
synonymous_variant | LOW | c.2622C>T | p.Asp874Asp | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/35 | 2978/4515 | 2622/2997 | 874/998 | chr7 | 74753158 | ||
| chr7:74753919
|
A | G | 6 | a0001c0001a0001c0004a0001c0005others(3): Show | 148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
synonymous_variant | LOW | c.2715A>G | p.Val905Val | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/35 | 3071/4515 | 2715/2997 | 905/998 | chr7 | 74753919 | ||
| chr7:74754021
|
G | A | 1 | a0001c0007 | 1 | HG01515.hp1 | synonymous_variant | LOW | c.2817G>A | p.Thr939Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/35 | 3173/4515 | 2817/2997 | 939/998 | chr7 | 74754021 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74657836
|
C | A | 1 | a0001c0001t0005 | 1 | NA18973.hp2 | 5_prime_UTR_variant | MODIFIER | c.-238C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/35 | 31293 | chr7 | 74657836 | |||||
| chr7:74758851
|
C | T | 2 | a0001c0001t0003a0001c0001t0008 | 6 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*13C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/35 | 13 | chr7 | 74758851 | |||||
| chr7:74758852
|
T | A | 1 | a0001c0001t0006 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*14T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/35 | 14 | chr7 | 74758852 | |||||
| chr7:74759825
|
T | G | 4 | a0001c0001t0002a0001c0001t0007a0001c0005t0002others(1): Show | 78 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(75): Show |
3_prime_UTR_variant | MODIFIER | c.*295T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 987 | chr7 | 74759825 | |||||
| chr7:74760078
|
G | GT | 1 | a0001c0001t0004 | 4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*555dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1248 | INFO_REALIGN_3_PRIME | chr7 | 74760078 | ||||
| chr7:74760242
|
G | A | 1 | a0001c0001t0008 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*712G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1404 | chr7 | 74760242 | |||||
| chr7:74760558
|
T | G | 1 | a0001c0001t0007 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1028T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1720 | chr7 | 74760558 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74658277
|
C | A | 1 | a0001c0002t0001g0001 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-6+209C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658277 | ||||||
| chr7:74658535
|
G | C | 3 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004 | 3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+467G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658535 | ||||||
| chr7:74658543
|
G | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+475G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658543 | ||||||
| chr7:74658827
|
G | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-6+759G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658827 | ||||||
| chr7:74659028
|
G | A | 5 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(2): Show | 5 | HG01071.hp1 HG01074.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+960G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659028 | ||||||
| chr7:74659066
|
G | GCTGA | 45 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0002g0131others(42): Show | 45 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.-6+1001_-6+1004dup others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74659066 | |||||
| chr7:74659158
|
A | G | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+1090A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659158 | ||||||
| chr7:74659188
|
G | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-6+1120G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659188 | ||||||
| chr7:74659260
|
G | A | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+1192G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659260 | ||||||
| chr7:74659394
|
A | AT | 8 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(5): Show | 8 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+1339dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74659394 | |||||
| chr7:74659534
|
C | T | 1 | a0001c0001t0002g0173 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-6+1466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659534 | ||||||
| chr7:74659789
|
C | T | 40 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(37): Show | 40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+1721C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659789 | ||||||
| chr7:74660181
|
T | TC | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+2113_-6+2114ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660181 | ||||||
| chr7:74660621
|
C | CT | 79 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0044others(76): Show | 79 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.-6+2568dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74660621 | |||||
| chr7:74660621
|
CT | C | 6 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(3): Show | 6 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6+2568delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74660621 | |||||
| chr7:74660661
|
G | A | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.-6+2593G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660661 | ||||||
| chr7:74660710
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+2642C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660710 | ||||||
| chr7:74660781
|
C | T | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-6+2713C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660781 | ||||||
| chr7:74661682
|
A | AAAAAAT | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+3625_-6+3630dup others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74661682 | |||||
| chr7:74661847
|
G | A | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-6+3779G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74661847 | ||||||
| chr7:74662009
|
A | G | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-6+3941A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662009 | ||||||
| chr7:74662156
|
G | A | 77 | a0001c0001t0001g0044a0001c0001t0002g0011a0001c0001t0002g0012others(74): Show | 77 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.-6+4088G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662156 | ||||||
| chr7:74662204
|
CT | C | 50 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0052others(47): Show | 50 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.-6+4163delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | |||||
| chr7:74662204
|
CTT | C | 12 | a0001c0001t0001g0021a0001c0001t0001g0060a0001c0001t0001g0061others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.-6+4162_-6+4163del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | |||||
| chr7:74662204
|
CTTTTTTT | C | 7 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051others(4): Show | 7 | HG02145.hp1 HG02615.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-6+4157_-6+4163del others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | |||||
| chr7:74662204
|
CTTTTTTT others(1): Show |
C | 75 | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0002g0011others(72): Show | 75 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.-6+4156_-6+4163del others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | |||||
| chr7:74662204
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0059 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-6+4153_-6+4163del others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | |||||
| chr7:74662251
|
G | T | 2 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | HG00639.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.-6+4183G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662251 | ||||||
| chr7:74662511
|
C | CTTT | 40 | a0001c0001t0001g0050a0001c0001t0001g0077a0001c0001t0002g0011others(37): Show | 40 | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+4470_-6+4472dup others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTT | 22 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051others(19): Show | 22 | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.-6+4469_-6+4472dup others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTT | 8 | a0001c0001t0001g0044a0001c0001t0002g0042a0001c0001t0002g0043others(5): Show | 8 | HG02145.hp2 HG02630.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+4468_-6+4472dup others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTT | 8 | a0001c0001t0001g0021a0001c0001t0002g0048a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+4467_-6+4472dup others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0054 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-6+4463_-6+4472dup others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(4): Show |
11 | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0056others(8): Show | 11 | HG00140.hp1 HG01169.hp2 HG02886.hp2 others(8): Show |
intron_variant | MODIFIER | c.-6+4462_-6+4472dup others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(5): Show |
4 | a0001c0001t0001g0058a0001c0001t0001g0078a0001c0001t0001g0085others(1): Show | 4 | HG01978.hp1 HG02622.hp2 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6+4461_-6+4472dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0079 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-6+4460_-6+4472dup others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-6+4459_-6+4472dup others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
C | CTTTTTTT others(9): Show |
1 | a0001c0001t0001g0062 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-6+4457_-6+4472dup others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
CT | C | 8 | a0001c0001t0001g0005a0001c0001t0003g0016a0001c0001t0003g0017others(5): Show | 8 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+4472delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
CTT | C | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+4471_-6+4472del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662511
|
CTTTTTTT | C | 20 | a0001c0001t0001g0052a0001c0001t0001g0063a0001c0001t0001g0064others(17): Show | 20 | HG00639.hp2 HG01109.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.-6+4466_-6+4472del others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | |||||
| chr7:74662569
|
C | T | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-6+4501C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662569 | ||||||
| chr7:74662604
|
C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-6+4536C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662604 | ||||||
| chr7:74662852
|
A | G | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-6+4784A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662852 | ||||||
| chr7:74663220
|
G | A | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-6+5152G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663220 | ||||||
| chr7:74663385
|
A | G | 40 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(37): Show | 40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+5317A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663385 | ||||||
| chr7:74663440
|
C | G | 2 | a0001c0002t0001g0101a0001c0002t0001g0102 | 2 | HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.-6+5372C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663440 | ||||||
| chr7:74663551
|
C | T | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+5483C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663551 | ||||||
| chr7:74663745
|
C | A | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-6+5677C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663745 | ||||||
| chr7:74663978
|
C | T | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-6+5910C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663978 | ||||||
| chr7:74664741
|
A | G | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-6+6673A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74664741 | ||||||
| chr7:74665016
|
C | T | 1 | a0001c0001t0002g0127 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-6+6948C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665016 | ||||||
| chr7:74665332
|
A | G | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-6+7264A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665332 | ||||||
| chr7:74665386
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-6+7318G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665386 | ||||||
| chr7:74665661
|
G | T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-6+7593G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665661 | ||||||
| chr7:74665865
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+7797C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665865 | ||||||
| chr7:74666523
|
T | C | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-6+8455T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74666523 | ||||||
| chr7:74666530
|
C | CT | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+8462_-6+8463ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74666530 | ||||||
| chr7:74666811
|
CA | C | 86 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(83): Show | 86 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(83): Show |
intron_variant | MODIFIER | c.-6+8762delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74666811 | |||||
| chr7:74666811
|
CAA | C | 42 | a0001c0001t0001g0030a0001c0001t0001g0052a0001c0001t0001g0053others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-6+8761_-6+8762del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74666811 | |||||
| chr7:74667016
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-6+8948G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667016 | ||||||
| chr7:74667075
|
G | T | 82 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0044others(79): Show | 82 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.-6+9007G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667075 | ||||||
| chr7:74667222
|
A | G | 3 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004 | 3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+9154A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667222 | ||||||
| chr7:74667536
|
G | A | 3 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0038 | 3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-6+9468G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667536 | ||||||
| chr7:74667656
|
C | T | 2 | a0001c0001t0002g0158a0001c0001t0002g0171 | 2 | NA18960.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.-6+9588C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667656 | ||||||
| chr7:74667682
|
G | T | 3 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004 | 3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+9614G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667682 | ||||||
| chr7:74667836
|
C | CT | 6 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(3): Show | 6 | HG01256.hp1 HG01258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+9784dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74667836 | |||||
| chr7:74667876
|
C | T | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-6+9808C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667876 | ||||||
| chr7:74667981
|
G | A | 1 | a0001c0001t0002g0162 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-6+9913G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667981 | ||||||
| chr7:74668026
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+9958G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668026 | ||||||
| chr7:74668055
|
G | A | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+9987G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668055 | ||||||
| chr7:74668173
|
C | CT | 85 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(82): Show | 85 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.-6+10128dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | |||||
| chr7:74668173
|
C | CTT | 7 | a0001c0001t0001g0076a0001c0001t0002g0013a0001c0001t0002g0031others(4): Show | 7 | HG02559.hp1 HG02572.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+10127_-6+10128d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | |||||
| chr7:74668173
|
CT | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0119a0001c0001t0001g0120others(7): Show | 10 | HG01071.hp2 HG01346.hp1 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.-6+10128delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | |||||
| chr7:74668331
|
TTGTG | T | 20 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(17): Show | 20 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(17): Show |
intron_variant | MODIFIER | c.-6+10285_-6+10288d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668331 | |||||
| chr7:74668331
|
TTGTGTG | T | 125 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(122): Show | 125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.-6+10283_-6+10288d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668331 | |||||
| chr7:74668384
|
T | C | 7 | a0001c0001t0001g0044a0001c0001t0002g0039a0001c0001t0002g0043others(4): Show | 7 | HG02145.hp2 HG02895.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.-6+10316T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668384 | ||||||
| chr7:74668508
|
G | A | 2 | a0001c0002t0001g0101a0001c0002t0001g0102 | 2 | HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.-6+10440G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668508 | ||||||
| chr7:74668695
|
A | C | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+10627A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668695 | ||||||
| chr7:74668903
|
A | C | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+10835A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668903 | ||||||
| chr7:74669027
|
G | A | 1 | a0001c0001t0002g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-6+10959G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74669027 | ||||||
| chr7:74669224
|
G | GT | 6 | a0001c0001t0002g0113a0001c0001t0003g0019a0001c0001t0004g0024others(3): Show | 6 | HG01175.hp2 HG02071.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6+11180dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | |||||
| chr7:74669224
|
GT | G | 27 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0057others(24): Show | 27 | HG00735.hp1 HG01074.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.-6+11180delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | |||||
| chr7:74669224
|
GTT | G | 104 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(101): Show | 104 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
intron_variant | MODIFIER | c.-6+11179_-6+11180d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | |||||
| chr7:74669892
|
G | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+11824G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74669892 | ||||||
| chr7:74670204
|
G | C | 2 | a0001c0001t0001g0119a0001c0001t0005g0118 | 2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-6+12136G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670204 | ||||||
| chr7:74670513
|
A | G | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-6+12445A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670513 | ||||||
| chr7:74670622
|
G | A | 3 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0002g0137 | 3 | HG01978.hp2 HG02148.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.-6+12554G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670622 | ||||||
| chr7:74670689
|
C | CA | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+12630dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74670689 | |||||
| chr7:74670706
|
A | C | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+12638A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670706 | ||||||
| chr7:74670714
|
A | C | 7 | a0001c0001t0002g0038a0001c0001t0002g0170a0001c0001t0003g0018others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+12646A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670714 | ||||||
| chr7:74670814
|
G | A | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+12746G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670814 | ||||||
| chr7:74671038
|
G | C | 3 | a0001c0001t0002g0138a0001c0001t0002g0139a0001c0001t0002g0163 | 3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.-6+12970G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671038 | ||||||
| chr7:74671079
|
C | CT | 5 | a0001c0001t0002g0113a0001c0001t0003g0019a0001c0002t0001g0004others(2): Show | 5 | HG01175.hp2 HG02071.hp1 HG03927.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+13036dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671079 | |||||
| chr7:74671079
|
CT | C | 98 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(95): Show | 98 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(95): Show |
intron_variant | MODIFIER | c.-6+13036delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671079 | |||||
| chr7:74671079
|
CTT | C | 11 | a0001c0001t0001g0029a0001c0001t0001g0044a0001c0001t0001g0063others(8): Show | 11 | HG01168.hp1 HG01891.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-6+13035_-6+13036d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671079 | |||||
| chr7:74671475
|
G | GT | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+13419dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671475 | |||||
| chr7:74671525
|
G | A | 1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-6+13457G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671525 | ||||||
| chr7:74671705
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+13637G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671705 | ||||||
| chr7:74671888
|
G | GT | 2 | a0001c0001t0003g0018a0001c0001t0003g0020 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-6+13821dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671888 | |||||
| chr7:74671923
|
A | G | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+13855A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671923 | ||||||
| chr7:74672082
|
ATATG | A | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+14019_-6+14022d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74672082 | |||||
| chr7:74672169
|
A | G | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+14101A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672169 | ||||||
| chr7:74672310
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-6+14242G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672310 | ||||||
| chr7:74672564
|
A | C | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-6+14496A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672564 | ||||||
| chr7:74672569
|
A | C | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-6+14501A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672569 | ||||||
| chr7:74672951
|
C | T | 3 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0038 | 3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-6+14883C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672951 | ||||||
| chr7:74673141
|
T | C | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+15073T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673141 | ||||||
| chr7:74673680
|
C | CT | 10 | a0001c0001t0001g0051a0001c0001t0002g0013a0001c0001t0002g0039others(7): Show | 10 | HG01175.hp1 HG01515.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-15424dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74673680 | |||||
| chr7:74673680
|
CT | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 10 | HG00140.hp2 HG01074.hp2 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-15424delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74673680 | |||||
| chr7:74673793
|
G | A | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-15331G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673793 | ||||||
| chr7:74673959
|
G | A | 1 | a0001c0001t0002g0158 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-5-15165G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673959 | ||||||
| chr7:74674069
|
CT | C | 83 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | HG00639.hp1 HG00673.hp1 HG00735.hp2 others(80): Show |
intron_variant | MODIFIER | c.-5-15035delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74674069 | |||||
| chr7:74674069
|
CTT | C | 48 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show |
intron_variant | MODIFIER | c.-5-15036_-5-15035d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74674069 | |||||
| chr7:74674154
|
C | T | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG02886.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-5-14970C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674154 | ||||||
| chr7:74674395
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-5-14729G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674395 | ||||||
| chr7:74674569
|
A | G | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.-5-14555A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674569 | ||||||
| chr7:74674736
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-5-14388G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674736 | ||||||
| chr7:74674864
|
A | T | 2 | a0001c0001t0001g0062a0001c0001t0002g0048 | 2 | HG02895.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.-5-14260A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674864 | ||||||
| chr7:74674956
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-14168G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674956 | ||||||
| chr7:74675072
|
C | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-14052C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675072 | ||||||
| chr7:74675072
|
C | T | 1 | a0001c0001t0002g0137 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-5-14052C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675072 | ||||||
| chr7:74675495
|
C | G | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.-5-13629C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675495 | ||||||
| chr7:74675791
|
C | T | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-13333C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675791 | ||||||
| chr7:74675852
|
A | G | 1 | a0001c0001t0002g0170 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-5-13272A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675852 | ||||||
| chr7:74675881
|
G | A | 7 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0062others(4): Show | 7 | HG00673.hp2 HG02056.hp1 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.-5-13243G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675881 | ||||||
| chr7:74675925
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-5-13199G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675925 | ||||||
| chr7:74675987
|
G | A | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-13137G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675987 | ||||||
| chr7:74676009
|
AAAACAAA others(1): Show |
A | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-13098_-5-13091d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74676009 | |||||
| chr7:74676610
|
A | G | 1 | a0001c0001t0001g0071 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-5-12514A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74676610 | ||||||
| chr7:74677124
|
T | A | 2 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-12000T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677124 | ||||||
| chr7:74677153
|
G | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-11971G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677153 | ||||||
| chr7:74677389
|
A | G | 1 | a0001c0001t0002g0166 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-5-11735A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677389 | ||||||
| chr7:74677643
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-5-11481G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677643 | ||||||
| chr7:74677781
|
C | CAA | 6 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0062others(3): Show | 6 | HG00673.hp2 NA18960.hp1 NA19012.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-11329_-5-11328d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | |||||
| chr7:74677781
|
C | CAAAAAAA others(2): Show |
105 | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0001g0051others(102): Show | 105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.-5-11336_-5-11328d others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | |||||
| chr7:74677781
|
C | CAAAAAAA others(3): Show |
20 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0027others(17): Show | 20 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.-5-11337_-5-11328d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | |||||
| chr7:74677781
|
C | CAAAAAAA others(4): Show |
6 | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0119others(3): Show | 6 | HG01074.hp2 HG02145.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-11338_-5-11328d others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | |||||
| chr7:74677781
|
C | CAAAAAAA others(5): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-5-11339_-5-11328d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | |||||
| chr7:74677865
|
A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-11259A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677865 | ||||||
| chr7:74677978
|
A | T | 1 | a0001c0002t0001g0111 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-5-11146A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677978 | ||||||
| chr7:74678218
|
C | CT | 16 | a0001c0001t0001g0029a0001c0001t0002g0045a0001c0001t0002g0129others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(13): Show |
intron_variant | MODIFIER | c.-5-10886dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74678218 | |||||
| chr7:74678218
|
CT | C | 5 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0038others(2): Show | 5 | HG01169.hp1 HG02559.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-10886delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74678218 | |||||
| chr7:74678324
|
T | A | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-10800T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678324 | ||||||
| chr7:74678417
|
T | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-10707T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678417 | ||||||
| chr7:74678456
|
G | T | 3 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0038 | 3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-5-10668G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678456 | ||||||
| chr7:74678623
|
G | A | 1 | a0001c0001t0002g0035 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-5-10501G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678623 | ||||||
| chr7:74678795
|
A | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-10329A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678795 | ||||||
| chr7:74678833
|
G | A | 2 | a0001c0001t0002g0143a0001c0001t0002g0144 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-5-10291G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678833 | ||||||
| chr7:74679062
|
G | A | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-10062G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679062 | ||||||
| chr7:74679172
|
G | A | 9 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(6): Show | 9 | HG00735.hp2 HG01071.hp1 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.-5-9952G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679172 | ||||||
| chr7:74679363
|
G | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9761G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679363 | ||||||
| chr7:74679364
|
C | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9760C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679364 | ||||||
| chr7:74679792
|
A | C | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-5-9332A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679792 | ||||||
| chr7:74679873
|
G | C | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-5-9251G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679873 | ||||||
| chr7:74679907
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-9217C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679907 | ||||||
| chr7:74679993
|
C | T | 1 | a0001c0001t0002g0169 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-5-9131C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679993 | ||||||
| chr7:74680003
|
C | T | 1 | a0001c0001t0002g0045 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-9121C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680003 | ||||||
| chr7:74680079
|
C | CA | 49 | a0001c0001t0001g0030a0001c0001t0002g0011a0001c0001t0002g0012others(46): Show | 49 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.-5-9024dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | |||||
| chr7:74680079
|
C | CAA | 14 | a0001c0001t0001g0050a0001c0001t0002g0013a0001c0001t0002g0039others(11): Show | 14 | HG01175.hp1 HG01515.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9024dup others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | |||||
| chr7:74680079
|
C | CAAA | 5 | a0001c0001t0001g0044a0001c0001t0002g0031a0001c0001t0002g0032others(2): Show | 5 | HG02559.hp1 HG03041.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-9026_-5-9024dup others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | |||||
| chr7:74680079
|
CAA | C | 6 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0062others(3): Show | 6 | NA18947.hp2 NA18960.hp1 NA19012.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9024del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | |||||
| chr7:74680089
|
AAAAAAAA others(5): Show |
A | 1 | a0001c0001t0001g0084 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-5-9033_-5-9022del others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680089 | |||||
| chr7:74680093
|
A | AT | 3 | a0001c0002t0001g0099a0001c0002t0001g0114a0001c0004t0001g0110 | 3 | NA18946.hp1 NA18949.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-5-9031_-5-9030ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680093 | ||||||
| chr7:74680095
|
A | AT | 5 | a0001c0002t0001g0098a0001c0002t0001g0102a0001c0002t0001g0109others(2): Show | 5 | HG01168.hp2 HG02615.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-9029_-5-9028ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | ||||||
| chr7:74680095
|
A | ATAT | 2 | a0001c0002t0001g0094a0001c0002t0001g0101 | 2 | HG03017.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-5-9029_-5-9028ins others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | ||||||
| chr7:74680095
|
A | ATATAT | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-9029_-5-9028ins others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | ||||||
| chr7:74680095
|
A | T | 6 | a0001c0002t0001g0099a0001c0002t0001g0103a0001c0002t0001g0111others(3): Show | 6 | HG01169.hp1 HG02559.hp2 HG04228.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-9029A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | ||||||
| chr7:74680096
|
AAAAAT | A | 6 | a0001c0001t0001g0052a0001c0001t0001g0068a0001c0001t0001g0069others(3): Show | 6 | HG02258.hp1 HG02572.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9026_-5-9022del others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680096 | |||||
| chr7:74680097
|
A | AT | 5 | a0001c0001t0002g0107a0001c0001t0002g0113a0001c0002t0001g0002others(2): Show | 5 | HG01175.hp2 HG03239.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-9027_-5-9026ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680097 | ||||||
| chr7:74680097
|
A | T | 20 | a0001c0001t0001g0077a0001c0002t0001g0001a0001c0002t0001g0094others(17): Show | 20 | HG00673.hp2 HG01109.hp2 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.-5-9027A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680097 | ||||||
| chr7:74680097
|
AAAAT | A | 19 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(16): Show | 19 | HG00140.hp1 HG00639.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9022del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680097 | |||||
| chr7:74680099
|
A | AAAAAAAA others(34): Show |
1 | a0001c0001t0003g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(41): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(20): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(27): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(26): Show |
1 | a0001c0001t0003g0017 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(21): Show |
1 | a0001c0001t0001g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(28): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(29): Show |
1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(36): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(20): Show |
1 | a0001c0001t0001g0006 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(27): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(24): Show |
1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(31): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(26): Show |
1 | a0002c0003t0001g0008 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(28): Show |
3 | a0001c0001t0001g0120a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG01070.hp2 HG01071.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(35): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(9): Show |
1 | a0001c0001t0004g0022 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(25): Show |
1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(32): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(8): Show |
3 | a0001c0001t0004g0023a0001c0001t0004g0024a0001c0001t0004g0025 | 3 | HG01891.hp2 HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(21): Show |
1 | a0002c0003t0001g0009 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(28): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(23): Show |
1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(30): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AAAAAAAA others(8): Show |
1 | a0001c0001t0008g0026 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | |||||
| chr7:74680099
|
A | AT | 2 | a0001c0002t0001g0116a0001c0002t0001g0117 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.-5-9025_-5-9024ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | ||||||
| chr7:74680099
|
A | G | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-9025A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | ||||||
| chr7:74680099
|
A | T | 26 | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0085others(23): Show | 26 | HG00099.hp2 HG00673.hp2 HG01109.hp2 others(23): Show |
intron_variant | MODIFIER | c.-5-9025A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | ||||||
| chr7:74680100
|
AT | A | 2 | a0001c0001t0002g0086a0001c0001t0002g0126 | 2 | HG02258.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.-5-9023delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680100 | ||||||
| chr7:74680100
|
ATAT | A | 3 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028 | 3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-9023_-5-9021del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680100 | ||||||
| chr7:74680101
|
T | A | 56 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0050others(53): Show | 56 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-5-9023T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680101 | ||||||
| chr7:74680103
|
T | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051others(7): Show | 10 | HG00673.hp1 HG01515.hp1 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-5-9021T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680103 | ||||||
| chr7:74680105
|
T | A | 3 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028 | 3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-9019T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680105 | ||||||
| chr7:74680107
|
T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-9017T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680107 | ||||||
| chr7:74680114
|
ATATG | A | 3 | a0001c0001t0001g0060a0001c0001t0001g0073a0001c0001t0001g0080 | 3 | HG02109.hp1 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-5-8994_-5-8991del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680114 | |||||
| chr7:74680118
|
G | A | 128 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(125): Show | 128 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.-5-9006G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680118 | ||||||
| chr7:74680135
|
T | C | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-8989T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680135 | ||||||
| chr7:74680139
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-8985C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680139 | ||||||
| chr7:74680141
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-5-8983T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680141 | ||||||
| chr7:74680148
|
ATG | A | 4 | a0001c0001t0001g0060a0001c0001t0001g0062a0001c0001t0001g0075others(1): Show | 4 | HG02486.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-8974_-5-8973del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680148 | |||||
| chr7:74680150
|
G | A | 37 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(34): Show | 37 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(34): Show |
intron_variant | MODIFIER | c.-5-8974G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680150 | ||||||
| chr7:74680386
|
G | T | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-5-8738G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680386 | ||||||
| chr7:74680552
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-5-8572G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680552 | ||||||
| chr7:74680757
|
ATGT | A | 81 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0044others(78): Show | 81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-8360_-5-8358del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680757 | |||||
| chr7:74681340
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-7784C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681340 | ||||||
| chr7:74681352
|
T | A | 81 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0044others(78): Show | 81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-7772T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681352 | ||||||
| chr7:74681440
|
T | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-7684T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681440 | ||||||
| chr7:74681458
|
G | GA | 6 | a0001c0001t0001g0076a0001c0001t0004g0022a0001c0001t0004g0023others(3): Show | 6 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-7657dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74681458 | |||||
| chr7:74681634
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-5-7490G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681634 | ||||||
| chr7:74681797
|
A | G | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-5-7327A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681797 | ||||||
| chr7:74681910
|
C | CA | 6 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0002g0011others(3): Show | 6 | HG01071.hp1 HG01074.hp1 HG01175.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-7199dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74681910 | |||||
| chr7:74681983
|
C | T | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-7141C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681983 | ||||||
| chr7:74682024
|
G | A | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-7100G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682024 | ||||||
| chr7:74682146
|
T | C | 3 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0019 | 3 | HG01346.hp1 HG02071.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.-5-6978T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682146 | ||||||
| chr7:74682390
|
A | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-6734A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682390 | ||||||
| chr7:74682482
|
A | C | 1 | a0001c0001t0002g0157 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-5-6642A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682482 | ||||||
| chr7:74682548
|
G | A | 1 | a0001c0001t0002g0145 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.-5-6576G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682548 | ||||||
| chr7:74682971
|
G | A | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-5-6153G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682971 | ||||||
| chr7:74683028
|
TA | T | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-6093delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74683028 | |||||
| chr7:74683128
|
G | A | 3 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028 | 3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-5996G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683128 | ||||||
| chr7:74683154
|
C | T | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-5970C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683154 | ||||||
| chr7:74683288
|
A | G | 2 | a0001c0001t0002g0140a0001c0001t0002g0145 | 2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.-5-5836A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683288 | ||||||
| chr7:74683290
|
C | T | 3 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0038 | 3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-5-5834C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683290 | ||||||
| chr7:74683612
|
G | A | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-5-5512G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683612 | ||||||
| chr7:74683647
|
G | A | 2 | a0001c0001t0002g0143a0001c0001t0002g0144 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-5-5477G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683647 | ||||||
| chr7:74683713
|
T | G | 3 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0019 | 3 | HG01346.hp1 HG02071.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.-5-5411T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683713 | ||||||
| chr7:74683722
|
G | A | 129 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(126): Show | 129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.-5-5402G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683722 | ||||||
| chr7:74683743
|
C | G | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-5-5381C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683743 | ||||||
| chr7:74683960
|
G | A | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-5-5164G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683960 | ||||||
| chr7:74684098
|
A | T | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-5-5026A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684098 | ||||||
| chr7:74684288
|
A | T | 2 | a0001c0002t0001g0099a0001c0002t0001g0114 | 2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.-5-4836A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684288 | ||||||
| chr7:74684334
|
C | T | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-4790C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684334 | ||||||
| chr7:74684615
|
G | A | 84 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(81): Show | 84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.-5-4509G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684615 | ||||||
| chr7:74684787
|
G | A | 2 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-4337G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684787 | ||||||
| chr7:74684804
|
C | T | 81 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0044others(78): Show | 81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-4320C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684804 | ||||||
| chr7:74684920
|
A | G | 2 | a0001c0001t0002g0040a0001c0001t0002g0041 | 2 | HG00735.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.-5-4204A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684920 | ||||||
| chr7:74684983
|
T | C | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-4141T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684983 | ||||||
| chr7:74685092
|
G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-4032G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685092 | ||||||
| chr7:74685118
|
C | T | 1 | a0001c0001t0002g0168 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.-5-4006C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685118 | ||||||
| chr7:74685235
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-3889C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685235 | ||||||
| chr7:74685272
|
G | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-3852G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685272 | ||||||
| chr7:74685343
|
A | C | 78 | a0001c0001t0001g0044a0001c0001t0002g0011a0001c0001t0002g0012others(75): Show | 78 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.-5-3781A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685343 | ||||||
| chr7:74685413
|
C | G | 2 | a0001c0001t0002g0140a0001c0001t0002g0145 | 2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.-5-3711C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685413 | ||||||
| chr7:74685492
|
G | C | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-3632G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685492 | ||||||
| chr7:74685691
|
C | T | 1 | a0001c0001t0002g0152 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-5-3433C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685691 | ||||||
| chr7:74685744
|
G | T | 4 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(1): Show | 4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3380G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685744 | ||||||
| chr7:74685745
|
C | T | 4 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(1): Show | 4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3379C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685745 | ||||||
| chr7:74685911
|
C | G | 133 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 133 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.-5-3213C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685911 | ||||||
| chr7:74685922
|
G | A | 5 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-3202G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685922 | ||||||
| chr7:74686118
|
A | G | 1 | a0001c0002t0001g0108 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-5-3006A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686118 | ||||||
| chr7:74686233
|
C | T | 1 | a0001c0002t0001g0108 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-5-2891C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686233 | ||||||
| chr7:74686732
|
T | C | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-2392T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686732 | ||||||
| chr7:74686895
|
G | GT | 8 | a0001c0001t0001g0120a0001c0001t0002g0034a0001c0001t0002g0158others(5): Show | 8 | HG02965.hp2 HG03139.hp1 HG03471.hp1 others(5): Show |
intron_variant | MODIFIER | c.-5-2217dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74686895 | |||||
| chr7:74686895
|
G | T | 6 | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(3): Show | 6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-2229G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686895 | ||||||
| chr7:74687079
|
CAG | C | 2 | a0001c0001t0001g0119a0001c0001t0005g0118 | 2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-5-2044_-5-2043del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687079 | ||||||
| chr7:74687142
|
C | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-1982C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687142 | ||||||
| chr7:74687404
|
A | G | 1 | a0001c0001t0002g0141 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-5-1720A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687404 | ||||||
| chr7:74687493
|
G | A | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-5-1631G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687493 | ||||||
| chr7:74687575
|
C | T | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-1549C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687575 | ||||||
| chr7:74688209
|
G | C | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-915G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688209 | ||||||
| chr7:74688219
|
C | T | 1 | a0001c0001t0002g0141 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-5-905C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688219 | ||||||
| chr7:74688289
|
G | T | 1 | a0001c0001t0002g0160 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-5-835G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688289 | ||||||
| chr7:74688331
|
G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-793G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688331 | ||||||
| chr7:74688561
|
A | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-5-563A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688561 | ||||||
| chr7:74688610
|
T | A | 171 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(168): Show | 171 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(168): Show |
intron_variant | MODIFIER | c.-5-514T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688610 | ||||||
| chr7:74688650
|
C | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-474C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688650 | ||||||
| chr7:74689008
|
C | T | 2 | a0001c0002t0001g0111a0001c0002t0001g0115 | 2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.-5-116C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74689008 | ||||||
| chr7:74689348
|
C | CT | 9 | a0001c0001t0001g0030a0001c0001t0001g0074a0001c0001t0002g0113others(6): Show | 9 | HG01175.hp1 HG01175.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.99+145dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689348 | |||||
| chr7:74689348
|
CT | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0068others(7): Show | 10 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.99+145delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689348 | |||||
| chr7:74689454
|
A | G | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.99+227A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689454 | ||||||
| chr7:74689704
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.99+477C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689704 | ||||||
| chr7:74689708
|
C | CATTCATT others(1): Show |
2 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.99+488_99+489insAA others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689708 | |||||
| chr7:74689745
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.99+518C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689745 | ||||||
| chr7:74690372
|
T | C | 84 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(81): Show | 84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.100-601T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690372 | ||||||
| chr7:74690682
|
A | G | 40 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(37): Show | 40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.100-291A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690682 | ||||||
| chr7:74690699
|
G | A | 7 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(4): Show | 7 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.100-274G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690699 | ||||||
| chr7:74690864
|
T | C | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.100-109T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690864 | ||||||
| chr7:74690887
|
ATG | A | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.100-84_100-83delGT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74690887 | |||||
| chr7:74690887
|
ATGT | A | 67 | a0001c0001t0001g0044a0001c0001t0002g0011a0001c0001t0002g0012others(64): Show | 67 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.100-81_100-79delGT others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74690887 | |||||
| chr7:74690890
|
T | A | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.100-83T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690890 | ||||||
| chr7:74690915
|
C | T | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.100-58C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690915 | ||||||
| chr7:74691188
|
TTTTCTTT others(5): Show |
T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.238+89_238+100delC others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74691188 | |||||
| chr7:74691188
|
TTTTCTTT others(9): Show |
T | 2 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.238+85_238+100delC others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74691188 | |||||
| chr7:74691353
|
C | T | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.238+242C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74691353 | ||||||
| chr7:74692025
|
C | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+914C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692025 | ||||||
| chr7:74692111
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.238+1000G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692111 | ||||||
| chr7:74692143
|
C | T | 1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.238+1032C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692143 | ||||||
| chr7:74692144
|
G | A | 1 | a0001c0001t0002g0128 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.238+1033G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692144 | ||||||
| chr7:74692147
|
C | G | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.238+1036C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692147 | ||||||
| chr7:74692301
|
C | G | 1 | a0001c0007t0002g0036 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.238+1190C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692301 | ||||||
| chr7:74692369
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+1258C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692369 | ||||||
| chr7:74692543
|
C | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.238+1432C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692543 | ||||||
| chr7:74692840
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+1729G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692840 | ||||||
| chr7:74693042
|
A | G | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.238+1931A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693042 | ||||||
| chr7:74693061
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.238+1950C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693061 | ||||||
| chr7:74693216
|
A | G | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.238+2105A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693216 | ||||||
| chr7:74693265
|
A | AT | 42 | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0050others(39): Show | 42 | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.238+2182dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | |||||
| chr7:74693265
|
A | ATT | 5 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0076others(2): Show | 5 | HG01192.hp2 HG02572.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.238+2181_238+2182d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | |||||
| chr7:74693265
|
AT | A | 11 | a0001c0001t0001g0059a0001c0001t0001g0071a0001c0001t0001g0089others(8): Show | 11 | HG01070.hp1 HG01169.hp2 HG01515.hp2 others(8): Show |
intron_variant | MODIFIER | c.238+2182delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | |||||
| chr7:74693312
|
G | A | 2 | a0001c0001t0001g0119a0001c0001t0005g0118 | 2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.238+2201G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693312 | ||||||
| chr7:74693499
|
T | C | 1 | a0001c0001t0001g0052 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.238+2388T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693499 | ||||||
| chr7:74693530
|
C | T | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.238+2419C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693530 | ||||||
| chr7:74693601
|
C | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(4): Show | 7 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.238+2490C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693601 | ||||||
| chr7:74693725
|
A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.238+2614A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693725 | ||||||
| chr7:74693745
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.238+2634C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693745 | ||||||
| chr7:74693802
|
C | T | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.238+2691C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693802 | ||||||
| chr7:74693803
|
A | G | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.238+2692A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693803 | ||||||
| chr7:74693854
|
A | G | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.238+2743A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693854 | ||||||
| chr7:74693883
|
A | G | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.238+2772A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693883 | ||||||
| chr7:74693917
|
C | G | 144 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(141): Show | 144 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.238+2806C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693917 | ||||||
| chr7:74694107
|
T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.238+2996T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694107 | ||||||
| chr7:74694176
|
A | G | 1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.238+3065A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694176 | ||||||
| chr7:74694416
|
G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.238+3305G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694416 | ||||||
| chr7:74694588
|
A | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+3477A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694588 | ||||||
| chr7:74694640
|
C | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.238+3529C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694640 | ||||||
| chr7:74694916
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.238+3805A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694916 | ||||||
| chr7:74695191
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.239-3770C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695191 | ||||||
| chr7:74695449
|
G | A | 6 | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(3): Show | 6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-3512G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695449 | ||||||
| chr7:74695605
|
A | G | 1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.239-3356A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695605 | ||||||
| chr7:74695984
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.239-2977T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695984 | ||||||
| chr7:74695996
|
AT | A | 5 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0050others(2): Show | 5 | HG02735.hp1 HG02735.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-2949delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74695996 | |||||
| chr7:74696373
|
A | G | 12 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(9): Show | 12 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.239-2588A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74696373 | ||||||
| chr7:74696493
|
AT | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0054others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-2452delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74696493 | |||||
| chr7:74696821
|
T | C | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.239-2140T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74696821 | ||||||
| chr7:74697459
|
G | C | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.239-1502G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697459 | ||||||
| chr7:74697943
|
AT | A | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0055others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.239-1012delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74697943 | |||||
| chr7:74697949
|
TG | T | 84 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(81): Show | 84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.239-1011delG | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697949 | ||||||
| chr7:74697950
|
G | T | 44 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(41): Show | 44 | HG00099.hp2 HG01070.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.239-1011G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697950 | ||||||
| chr7:74697954
|
G | T | 6 | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(3): Show | 6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-1007G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697954 | ||||||
| chr7:74698037
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-924G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698037 | ||||||
| chr7:74698038
|
C | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-923C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698038 | ||||||
| chr7:74698139
|
T | C | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.239-822T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698139 | ||||||
| chr7:74698389
|
C | CT | 6 | a0001c0001t0002g0113a0001c0001t0003g0019a0001c0002t0001g0102others(3): Show | 6 | HG01175.hp2 HG02071.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-545dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | |||||
| chr7:74698389
|
CT | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0057others(30): Show | 33 | HG01074.hp2 HG01175.hp1 HG01256.hp1 others(30): Show |
intron_variant | MODIFIER | c.239-545delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | |||||
| chr7:74698389
|
CTT | C | 106 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(103): Show | 106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.239-546_239-545del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | |||||
| chr7:74698389
|
CTTT | C | 5 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0002g0013others(2): Show | 5 | HG01169.hp2 HG02895.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-547_239-545del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | |||||
| chr7:74698416
|
T | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.239-545T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698416 | ||||||
| chr7:74698651
|
ATCC | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-305_239-303del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698651 | |||||
| chr7:74698811
|
A | G | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.239-150A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698811 | ||||||
| chr7:74699298
|
G | GT | 14 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(11): Show | 14 | HG01074.hp2 HG02145.hp2 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.373+215dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr7 | 74699298 | |||||
| chr7:74699442
|
G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.373+347G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699442 | ||||||
| chr7:74699504
|
C | G | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.373+409C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699504 | ||||||
| chr7:74699516
|
C | T | 2 | a0001c0001t0002g0143a0001c0001t0002g0144 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.373+421C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699516 | ||||||
| chr7:74700176
|
A | G | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.374-71A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74700176 | ||||||
| chr7:74700517
|
C | T | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.557+87C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 5/34 | chr7 | 74700517 | ||||||
| chr7:74700676
|
G | A | 1 | a0001c0002t0001g0108 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.586+42G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74700676 | ||||||
| chr7:74700928
|
C | T | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.586+294C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74700928 | ||||||
| chr7:74701009
|
C | T | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.586+375C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701009 | ||||||
| chr7:74701630
|
G | A | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.586+996G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701630 | ||||||
| chr7:74701717
|
G | A | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.586+1083G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701717 | ||||||
| chr7:74702227
|
CT | C | 63 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(60): Show | 63 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(60): Show |
intron_variant | MODIFIER | c.586+1608delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74702227 | |||||
| chr7:74702375
|
G | A | 1 | a0001c0001t0002g0107 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.586+1741G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702375 | ||||||
| chr7:74702873
|
C | T | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.586+2239C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702873 | ||||||
| chr7:74702909
|
C | G | 3 | a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010 | 3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.587-2255C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702909 | ||||||
| chr7:74703019
|
G | A | 1 | a0001c0001t0002g0135 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.587-2145G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703019 | ||||||
| chr7:74703188
|
A | T | 5 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0002g0037others(2): Show | 5 | HG02258.hp2 HG02451.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.587-1976A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703188 | ||||||
| chr7:74703460
|
ACC | A | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.587-1703_587-1702d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703460 | ||||||
| chr7:74703566
|
T | G | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.587-1598T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703566 | ||||||
| chr7:74703752
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-1412T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703752 | ||||||
| chr7:74703931
|
T | C | 173 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 173 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
intron_variant | MODIFIER | c.587-1233T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703931 | ||||||
| chr7:74704024
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-1140T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704024 | ||||||
| chr7:74704252
|
T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.587-912T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704252 | ||||||
| chr7:74704266
|
A | ATATTTAT others(5): Show |
1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-897_587-896ins others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704266 | |||||
| chr7:74704268
|
T | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-896T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704268 | ||||||
| chr7:74704268
|
T | TCTTATTT others(5): Show |
1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.587-896_587-895ins others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704268 | ||||||
| chr7:74704268
|
T | TTTTATTT others(1): Show |
43 | a0001c0001t0001g0030a0001c0001t0001g0052a0001c0001t0001g0054others(40): Show | 43 | HG00639.hp2 HG00673.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.587-876_587-869dup others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | |||||
| chr7:74704268
|
T | TTTTATTT others(5): Show |
70 | a0001c0001t0001g0029a0001c0001t0001g0051a0001c0001t0001g0053others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.587-880_587-869dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | |||||
| chr7:74704268
|
T | TTTTATTT others(9): Show |
7 | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(4): Show | 7 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.587-884_587-869dup others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | |||||
| chr7:74704284
|
A | ATTTATTT others(5): Show |
6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.587-867_587-856dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704284 | |||||
| chr7:74704293
|
T | TTTATTTA others(4): Show |
1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.587-869_587-868ins others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704293 | |||||
| chr7:74704855
|
T | TA | 6 | a0001c0002t0001g0001a0001c0002t0001g0095a0001c0002t0001g0101others(3): Show | 6 | HG01109.hp2 HG02965.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.587-279dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | |||||
| chr7:74704855
|
TA | T | 12 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.587-279delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | |||||
| chr7:74704855
|
TAA | T | 10 | a0001c0001t0001g0044a0001c0001t0001g0075a0001c0001t0001g0076others(7): Show | 10 | HG02486.hp2 HG02572.hp2 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.587-280_587-279del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | |||||
| chr7:74704855
|
TAAA | T | 101 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(98): Show | 101 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(98): Show |
intron_variant | MODIFIER | c.587-281_587-279del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | |||||
| chr7:74704855
|
TAAAA | T | 20 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0061others(17): Show | 20 | HG00735.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.587-282_587-279del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | |||||
| chr7:74705553
|
CT | C | 126 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.641+350delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr7 | 74705553 | |||||
| chr7:74705647
|
C | G | 1 | a0001c0001t0001g0081 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.641+429C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74705647 | ||||||
| chr7:74705932
|
T | G | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.642-458T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74705932 | ||||||
| chr7:74706038
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.642-352C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74706038 | ||||||
| chr7:74706039
|
A | G | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.642-351A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74706039 | ||||||
| chr7:74706674
|
A | AT | 13 | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0094others(10): Show | 13 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.685+250dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr7 | 74706674 | |||||
| chr7:74706683
|
T | C | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+250T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706683 | ||||||
| chr7:74706874
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.685+441G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706874 | ||||||
| chr7:74706896
|
A | G | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.685+463A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706896 | ||||||
| chr7:74706905
|
C | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+472C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706905 | ||||||
| chr7:74706914
|
G | T | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+481G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706914 | ||||||
| chr7:74707009
|
A | T | 4 | a0001c0001t0002g0134a0001c0001t0002g0153a0001c0001t0002g0157others(1): Show | 4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.685+576A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707009 | ||||||
| chr7:74707207
|
G | A | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.685+774G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707207 | ||||||
| chr7:74707296
|
C | T | 2 | a0001c0001t0002g0031a0001c0001t0002g0032 | 2 | HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.685+863C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707296 | ||||||
| chr7:74707366
|
G | A | 1 | a0001c0001t0002g0152 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.685+933G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707366 | ||||||
| chr7:74707895
|
C | T | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.685+1462C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707895 | ||||||
| chr7:74708117
|
T | C | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.685+1684T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708117 | ||||||
| chr7:74708389
|
A | T | 83 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(80): Show | 83 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.685+1956A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708389 | ||||||
| chr7:74708523
|
G | A | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.685+2090G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708523 | ||||||
| chr7:74708526
|
G | A | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.685+2093G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708526 | ||||||
| chr7:74708572
|
G | A | 1 | a0001c0001t0001g0057 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.685+2139G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708572 | ||||||
| chr7:74708676
|
C | T | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.685+2243C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708676 | ||||||
| chr7:74709373
|
C | T | 2 | a0001c0001t0001g0119a0001c0001t0005g0118 | 2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.686-1659C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709373 | ||||||
| chr7:74709449
|
G | T | 1 | a0001c0001t0001g0080 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.686-1583G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709449 | ||||||
| chr7:74709745
|
T | A | 1 | a0001c0002t0001g0002 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.686-1287T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709745 | ||||||
| chr7:74710005
|
T | A | 1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.686-1027T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710005 | ||||||
| chr7:74710139
|
G | A | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.686-893G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710139 | ||||||
| chr7:74710314
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.686-718T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710314 | ||||||
| chr7:74710374
|
G | A | 2 | a0001c0001t0002g0136a0001c0001t0002g0167 | 2 | NA18946.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.686-658G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710374 | ||||||
| chr7:74710440
|
C | T | 1 | a0001c0002t0001g0004 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.686-592C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710440 | ||||||
| chr7:74710579
|
C | A | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.686-453C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710579 | ||||||
| chr7:74710589
|
A | C | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.686-443A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710589 | ||||||
| chr7:74711187
|
A | G | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.763+78A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711187 | ||||||
| chr7:74711246
|
C | A | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+137C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711246 | ||||||
| chr7:74711703
|
C | T | 3 | a0001c0001t0002g0142a0001c0001t0002g0150a0001c0001t0002g0155 | 3 | HG03704.hp1 NA18947.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.763+594C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711703 | ||||||
| chr7:74711837
|
T | C | 161 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.763+728T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711837 | ||||||
| chr7:74711949
|
C | CT | 14 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(11): Show |
intron_variant | MODIFIER | c.763+858dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74711949 | |||||
| chr7:74712011
|
G | A | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.763+902G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712011 | ||||||
| chr7:74712069
|
C | A | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.763+960C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712069 | ||||||
| chr7:74712101
|
C | G | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.763+992C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712101 | ||||||
| chr7:74712367
|
T | C | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.763+1258T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712367 | ||||||
| chr7:74712469
|
C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.763+1360C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712469 | ||||||
| chr7:74712487
|
AGT | A | 29 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0029others(26): Show | 29 | HG00140.hp2 HG01346.hp2 HG01993.hp2 others(26): Show |
intron_variant | MODIFIER | c.763+1427_763+1428d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGT | A | 49 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0015others(46): Show | 49 | HG00099.hp1 HG00738.hp1 HG00738.hp2 others(46): Show |
intron_variant | MODIFIER | c.763+1425_763+1428d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGT | A | 17 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0044others(14): Show | 17 | HG00639.hp1 HG00673.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.763+1423_763+1428d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(1): Show |
A | 11 | a0001c0001t0001g0120a0001c0001t0002g0040a0001c0001t0002g0041others(8): Show | 11 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.763+1421_763+1428d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(3): Show |
A | 8 | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0088others(5): Show | 8 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.763+1419_763+1428d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(5): Show |
A | 35 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(32): Show | 35 | HG00639.hp2 HG00673.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.763+1417_763+1428d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(7): Show |
A | 1 | a0001c0001t0001g0069 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.763+1415_763+1428d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(9): Show |
A | 2 | a0001c0002t0001g0116a0001c0002t0001g0117 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.763+1413_763+1428d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(15): Show |
A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.763+1407_763+1428d others(24): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712487
|
AGTGTGTG others(21): Show |
A | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.763+1401_763+1428d others(30): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | |||||
| chr7:74712652
|
C | CT | 52 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(49): Show | 52 | HG00140.hp1 HG00673.hp2 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.763+1560dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712652 | |||||
| chr7:74712672
|
C | T | 5 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+1563C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712672 | ||||||
| chr7:74712764
|
A | G | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+1655A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712764 | ||||||
| chr7:74712869
|
G | A | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.763+1760G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712869 | ||||||
| chr7:74713090
|
T | C | 1 | a0001c0001t0002g0150 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.764-1767T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713090 | ||||||
| chr7:74713147
|
C | T | 1 | a0001c0001t0002g0149 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.764-1710C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713147 | ||||||
| chr7:74713175
|
TA | T | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(86): Show | 89 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(86): Show |
intron_variant | MODIFIER | c.764-1674delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74713175 | |||||
| chr7:74713416
|
CTT | C | 11 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(8): Show | 11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.764-1438_764-1437d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74713416 | |||||
| chr7:74713639
|
G | T | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.764-1218G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713639 | ||||||
| chr7:74713641
|
A | C | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.764-1216A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713641 | ||||||
| chr7:74714467
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.764-390C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714467 | ||||||
| chr7:74714476
|
A | G | 1 | a0001c0001t0002g0168 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.764-381A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714476 | ||||||
| chr7:74714719
|
C | T | 1 | a0001c0001t0001g0064 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.764-138C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714719 | ||||||
| chr7:74714815
|
T | G | 3 | a0001c0001t0001g0021a0001c0001t0002g0034a0001c0001t0002g0035 | 3 | HG02155.hp2 NA18964.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.764-42T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714815 | ||||||
| chr7:74714941
|
C | T | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.823+25C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74714941 | ||||||
| chr7:74715616
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.823+700C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715616 | ||||||
| chr7:74715780
|
A | C | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.823+864A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715780 | ||||||
| chr7:74715846
|
A | G | 1 | a0001c0001t0002g0149 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.823+930A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715846 | ||||||
| chr7:74715992
|
C | T | 1 | a0001c0001t0002g0149 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.824-902C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715992 | ||||||
| chr7:74716354
|
T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.824-540T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74716354 | ||||||
| chr7:74717330
|
TC | T | 129 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(126): Show | 129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.880+381delC | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717330 | ||||||
| chr7:74717695
|
G | A | 129 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(126): Show | 129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.880+745G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717695 | ||||||
| chr7:74717913
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.880+963T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717913 | ||||||
| chr7:74717986
|
A | T | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.881-893A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717986 | ||||||
| chr7:74718516
|
A | G | 2 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.881-363A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718516 | ||||||
| chr7:74718748
|
T | C | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.881-131T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718748 | ||||||
| chr7:74718756
|
G | C | 1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.881-123G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718756 | ||||||
| chr7:74719366
|
C | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.943+425C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719366 | ||||||
| chr7:74719378
|
C | T | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.943+437C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719378 | ||||||
| chr7:74719610
|
C | T | 40 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(37): Show | 40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.943+669C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719610 | ||||||
| chr7:74719677
|
T | G | 1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.943+736T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719677 | ||||||
| chr7:74719771
|
C | G | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.943+830C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719771 | ||||||
| chr7:74719876
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.943+935C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719876 | ||||||
| chr7:74720098
|
T | C | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.943+1157T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720098 | ||||||
| chr7:74720530
|
C | T | 173 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 173 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
intron_variant | MODIFIER | c.943+1589C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720530 | ||||||
| chr7:74720592
|
C | T | 147 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.943+1651C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720592 | ||||||
| chr7:74720741
|
A | AT | 132 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.943+1819dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74720741 | |||||
| chr7:74720847
|
A | G | 2 | a0001c0001t0001g0074a0001c0001t0001g0084 | 2 | HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.943+1906A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720847 | ||||||
| chr7:74720983
|
C | CT | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.943+2045dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74720983 | |||||
| chr7:74721110
|
C | T | 1 | a0001c0001t0002g0152 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.943+2169C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721110 | ||||||
| chr7:74721111
|
G | A | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.943+2170G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721111 | ||||||
| chr7:74721405
|
A | C | 2 | a0001c0001t0001g0052a0001c0001t0001g0060 | 2 | HG02258.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.943+2464A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721405 | ||||||
| chr7:74721524
|
A | G | 5 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(2): Show | 5 | HG00140.hp1 HG01169.hp2 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+2583A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721524 | ||||||
| chr7:74721611
|
A | G | 1 | a0001c0001t0008g0026 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.943+2670A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721611 | ||||||
| chr7:74721887
|
G | A | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.943+2946G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721887 | ||||||
| chr7:74721965
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.943+3024G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721965 | ||||||
| chr7:74722629
|
AT | A | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.943+3690delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74722629 | |||||
| chr7:74722848
|
A | G | 1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.943+3907A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74722848 | ||||||
| chr7:74723123
|
G | GT | 83 | a0001c0001t0001g0021a0001c0001t0001g0028a0001c0001t0001g0029others(80): Show | 83 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.943+4200dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723123 | |||||
| chr7:74723123
|
G | GTT | 5 | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0002g0041others(2): Show | 5 | HG00735.hp2 HG02055.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+4199_943+4200d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723123 | |||||
| chr7:74723274
|
C | T | 2 | a0001c0001t0003g0018a0001c0001t0003g0020 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.943+4333C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723274 | ||||||
| chr7:74723293
|
T | C | 1 | a0001c0002t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.943+4352T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723293 | ||||||
| chr7:74723428
|
C | CCTTTTTT others(17): Show |
2 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.943+4487_943+4488i others(26): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723428 | ||||||
| chr7:74723428
|
C | CCTTTTTT others(30): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.943+4487_943+4488i others(39): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723428 | ||||||
| chr7:74723428
|
C | CTTTTTTT others(2): Show |
69 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.943+4499_943+4507d others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(3): Show |
20 | a0001c0001t0001g0030a0001c0001t0001g0050a0001c0001t0001g0051others(17): Show | 20 | HG00673.hp1 HG00738.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.943+4498_943+4507d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(6): Show |
8 | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0055others(5): Show | 8 | HG02258.hp1 HG02723.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.943+4495_943+4507d others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(7): Show |
12 | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0058others(9): Show | 12 | HG00735.hp1 HG02056.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.943+4494_943+4507d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(8): Show |
11 | a0001c0001t0001g0059a0001c0001t0001g0061a0001c0001t0001g0066others(8): Show | 11 | HG01109.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.943+4493_943+4507d others(17): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(9): Show |
6 | a0001c0001t0001g0075a0001c0001t0001g0088a0001c0001t0001g0089others(3): Show | 6 | HG00140.hp1 HG01169.hp2 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.943+4492_943+4507d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(10): Show |
2 | a0001c0001t0001g0065a0001c0001t0001g0081 | 2 | HG00639.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.943+4491_943+4507d others(19): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723428
|
C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0077 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.943+4490_943+4507d others(20): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | |||||
| chr7:74723429
|
T | C | 3 | a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010 | 3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.943+4488T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723429 | ||||||
| chr7:74723678
|
G | A | 1 | a0001c0001t0002g0124 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.943+4737G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723678 | ||||||
| chr7:74723718
|
A | G | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+4777A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723718 | ||||||
| chr7:74723788
|
C | A | 137 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(134): Show | 137 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.943+4847C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723788 | ||||||
| chr7:74723854
|
GA | G | 9 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(6): Show | 9 | HG01074.hp1 HG01074.hp2 HG02148.hp1 others(6): Show |
intron_variant | MODIFIER | c.944-4919delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723854 | |||||
| chr7:74723900
|
C | T | 1 | a0001c0001t0001g0062 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.944-4886C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723900 | ||||||
| chr7:74724085
|
A | G | 4 | a0001c0001t0002g0134a0001c0001t0002g0153a0001c0001t0002g0157others(1): Show | 4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-4701A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724085 | ||||||
| chr7:74724101
|
T | C | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-4685T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724101 | ||||||
| chr7:74724270
|
C | T | 38 | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0055others(35): Show | 38 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(35): Show |
intron_variant | MODIFIER | c.944-4516C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724270 | ||||||
| chr7:74724321
|
A | G | 2 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | HG00639.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.944-4465A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724321 | ||||||
| chr7:74724538
|
C | T | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.944-4248C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724538 | ||||||
| chr7:74724607
|
C | G | 42 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(39): Show | 42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.944-4179C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724607 | ||||||
| chr7:74724656
|
T | G | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.944-4130T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724656 | ||||||
| chr7:74724798
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.944-3988G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724798 | ||||||
| chr7:74724805
|
C | G | 1 | a0001c0001t0002g0170 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.944-3981C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724805 | ||||||
| chr7:74725138
|
T | C | 2 | a0001c0002t0001g0099a0001c0002t0001g0114 | 2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.944-3648T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725138 | ||||||
| chr7:74725148
|
A | G | 2 | a0001c0002t0001g0099a0001c0002t0001g0114 | 2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.944-3638A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725148 | ||||||
| chr7:74725166
|
T | G | 4 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(1): Show | 4 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-3620T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725166 | ||||||
| chr7:74725273
|
T | G | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-3513T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725273 | ||||||
| chr7:74725276
|
A | G | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-3510A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725276 | ||||||
| chr7:74725287
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.944-3499G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725287 | ||||||
| chr7:74725531
|
T | TA | 136 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(133): Show | 136 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.944-3242dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74725531 | |||||
| chr7:74725717
|
C | T | 87 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(84): Show | 87 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(84): Show |
intron_variant | MODIFIER | c.944-3069C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725717 | ||||||
| chr7:74725845
|
C | CT | 5 | a0001c0001t0001g0062a0001c0001t0001g0119a0001c0001t0002g0032others(2): Show | 5 | HG01346.hp2 HG03041.hp2 NA19056.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-2928dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74725845 | |||||
| chr7:74726096
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.944-2690T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726096 | ||||||
| chr7:74726127
|
A | ACATAAAC others(1): Show |
4 | a0001c0001t0002g0039a0001c0001t0002g0043a0001c0001t0002g0046others(1): Show | 4 | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-2659_944-2658i others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726127 | ||||||
| chr7:74726130
|
A | T | 4 | a0001c0001t0002g0039a0001c0001t0002g0043a0001c0001t0002g0046others(1): Show | 4 | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-2656A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726130 | ||||||
| chr7:74726349
|
T | C | 1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.944-2437T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726349 | ||||||
| chr7:74726417
|
T | C | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.944-2369T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726417 | ||||||
| chr7:74726591
|
C | G | 131 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(128): Show | 131 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
intron_variant | MODIFIER | c.944-2195C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726591 | ||||||
| chr7:74726679
|
A | G | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-2107A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726679 | ||||||
| chr7:74726834
|
C | CAGAT | 35 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0050others(32): Show | 35 | HG00099.hp2 HG00673.hp1 HG00735.hp2 others(32): Show |
intron_variant | MODIFIER | c.944-1904_944-1901d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726834
|
C | CAGATAGA others(1): Show |
13 | a0001c0001t0002g0031a0001c0001t0002g0033a0001c0001t0002g0123others(10): Show | 13 | HG00639.hp1 HG01192.hp2 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.944-1908_944-1901d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726834
|
C | CAGATAGA others(5): Show |
3 | a0001c0001t0002g0113a0001c0002t0001g0105a0001c0002t0001g0109 | 3 | HG01175.hp2 HG01993.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.944-1912_944-1901d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726834
|
CAGAT | C | 34 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(31): Show | 34 | HG00140.hp1 HG00639.hp2 HG01071.hp1 others(31): Show |
intron_variant | MODIFIER | c.944-1904_944-1901d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726834
|
CAGATAGA others(1): Show |
C | 10 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(7): Show | 10 | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.944-1908_944-1901d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726834
|
CAGATAGA others(9): Show |
C | 8 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0062others(5): Show | 8 | HG00673.hp2 HG02056.hp1 NA18947.hp2 others(5): Show |
intron_variant | MODIFIER | c.944-1916_944-1901d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | |||||
| chr7:74726899
|
A | AATAG | 34 | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0001g0058others(31): Show | 34 | HG00639.hp1 HG00673.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.944-1845_944-1842d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
A | AATAGATA others(1): Show |
9 | a0001c0001t0001g0075a0001c0001t0001g0119a0001c0001t0002g0032others(6): Show | 9 | HG00099.hp1 HG01258.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.944-1849_944-1842d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
A | AATAGATA others(5): Show |
1 | a0001c0002t0001g0116 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.944-1853_944-1842d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
AATAG | A | 38 | a0001c0001t0001g0055a0001c0001t0001g0069a0001c0001t0001g0074others(35): Show | 38 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.944-1845_944-1842d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
AATAGATA others(1): Show |
A | 14 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0059others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.944-1849_944-1842d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
AATAGATA others(5): Show |
A | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.944-1853_944-1842d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
AATAGATA others(9): Show |
A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.944-1857_944-1842d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726899
|
AATAGATA others(13): Show |
A | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.944-1861_944-1842d others(22): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | |||||
| chr7:74726941
|
TAGAA | T | 6 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0088others(3): Show | 6 | HG00140.hp1 HG01978.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.944-1840_944-1837d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726941 | |||||
| chr7:74726962
|
G | T | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.944-1824G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726962 | ||||||
| chr7:74727575
|
T | A | 1 | a0001c0001t0001g0069 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.944-1211T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727575 | ||||||
| chr7:74727619
|
A | C | 2 | a0001c0001t0002g0143a0001c0001t0002g0144 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.944-1167A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727619 | ||||||
| chr7:74727817
|
G | A | 1 | a0001c0001t0003g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.944-969G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727817 | ||||||
| chr7:74728016
|
C | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.944-770C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74728016 | ||||||
| chr7:74728017
|
A | T | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.944-769A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74728017 | ||||||
| chr7:74729056
|
A | C | 2 | a0001c0002t0001g0111a0001c0002t0001g0115 | 2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1054+160A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729056 | ||||||
| chr7:74729220
|
C | CT | 12 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(9): Show | 12 | HG00099.hp1 HG01070.hp1 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.1054+339dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr7 | 74729220 | |||||
| chr7:74729316
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1054+420G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729316 | ||||||
| chr7:74729405
|
T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1054+509T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729405 | ||||||
| chr7:74729407
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1054+511G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729407 | ||||||
| chr7:74729504
|
G | A | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1054+608G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729504 | ||||||
| chr7:74729743
|
G | T | 1 | a0001c0001t0002g0122 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055-486G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729743 | ||||||
| chr7:74729837
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1055-392G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729837 | ||||||
| chr7:74729839
|
G | C | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1055-390G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729839 | ||||||
| chr7:74729902
|
G | A | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1055-327G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729902 | ||||||
| chr7:74730526
|
G | A | 130 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.1120+232G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730526 | ||||||
| chr7:74730645
|
C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+351C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730645 | ||||||
| chr7:74730673
|
C | A | 1 | a0001c0001t0001g0069 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1120+379C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730673 | ||||||
| chr7:74730713
|
C | CT | 25 | a0001c0001t0001g0028a0001c0001t0001g0055a0001c0001t0001g0057others(22): Show | 25 | HG00140.hp2 HG00639.hp2 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.1120+446dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730713
|
C | CTT | 62 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(59): Show | 62 | HG00099.hp1 HG00639.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.1120+445_1120+446d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730713
|
C | CTTT | 15 | a0001c0001t0001g0120a0001c0001t0002g0042a0001c0001t0002g0113others(12): Show | 15 | HG01175.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.1120+444_1120+446d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730713
|
CTTT | C | 5 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(2): Show | 5 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.1120+444_1120+446d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730713
|
CTTTTTTT others(6): Show |
C | 3 | a0001c0001t0002g0013a0001c0001t0002g0015a0001c0001t0002g0129 | 3 | HG02148.hp2 HG02293.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1120+434_1120+446d others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730713
|
CTTTTTTT others(7): Show |
C | 5 | a0001c0001t0002g0134a0001c0001t0002g0153a0001c0001t0002g0157others(2): Show | 5 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.1120+433_1120+446d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | |||||
| chr7:74730770
|
A | G | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+476A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730770 | ||||||
| chr7:74730793
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+499G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730793 | ||||||
| chr7:74730968
|
A | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1120+674A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730968 | ||||||
| chr7:74730975
|
A | G | 147 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.1120+681A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730975 | ||||||
| chr7:74731116
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+822G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731116 | ||||||
| chr7:74731133
|
T | G | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+839T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731133 | ||||||
| chr7:74731220
|
A | C | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1120+926A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731220 | ||||||
| chr7:74731296
|
A | G | 1 | a0001c0002t0001g0106 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1120+1002A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731296 | ||||||
| chr7:74731552
|
GT | G | 156 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0027others(153): Show | 156 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.1121-913delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74731552 | |||||
| chr7:74731623
|
T | C | 1 | a0001c0004t0001g0110 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1121-856T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731623 | ||||||
| chr7:74731657
|
G | A | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.1121-822G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731657 | ||||||
| chr7:74731712
|
T | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1121-767T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731712 | ||||||
| chr7:74731725
|
A | G | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.1121-754A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731725 | ||||||
| chr7:74731856
|
A | G | 1 | a0001c0001t0002g0048 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1121-623A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731856 | ||||||
| chr7:74731916
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1121-563G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731916 | ||||||
| chr7:74731942
|
A | C | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1121-537A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731942 | ||||||
| chr7:74731953
|
C | A | 1 | a0001c0004t0001g0110 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1121-526C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731953 | ||||||
| chr7:74732057
|
C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1121-422C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732057 | ||||||
| chr7:74732091
|
A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1121-388A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732091 | ||||||
| chr7:74732142
|
C | CAT | 5 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0120others(2): Show | 5 | HG02451.hp1 HG03017.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1121-321_1121-320d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | |||||
| chr7:74732142
|
C | CATAT | 27 | a0001c0001t0001g0052a0001c0001t0001g0060a0001c0001t0001g0063others(24): Show | 27 | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.1121-323_1121-320d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | |||||
| chr7:74732142
|
C | CATATAT | 10 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0057others(7): Show | 10 | HG00673.hp2 HG02056.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.1121-325_1121-320d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | |||||
| chr7:74732243
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1121-236G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732243 | ||||||
| chr7:74732322
|
C | T | 3 | a0001c0001t0002g0138a0001c0001t0002g0139a0001c0001t0002g0163 | 3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1121-157C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732322 | ||||||
| chr7:74732335
|
C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1121-144C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732335 | ||||||
| chr7:74732974
|
T | TA | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1304+312_1304+313i others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | chr7 | 74732974 | ||||||
| chr7:74732975
|
T | A | 3 | a0001c0001t0001g0079a0001c0001t0001g0119a0001c0002t0001g0100 | 3 | HG01515.hp2 HG02056.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1304+313T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | chr7 | 74732975 | ||||||
| chr7:74733768
|
G | GA | 130 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.1305-141dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | INFO_REALIGN_3_PRIME | chr7 | 74733768 | |||||
| chr7:74733768
|
G | GAA | 6 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(3): Show | 6 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.1305-142_1305-141d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | INFO_REALIGN_3_PRIME | chr7 | 74733768 | |||||
| chr7:74734279
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1363+298T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734279 | ||||||
| chr7:74734448
|
A | G | 17 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(14): Show | 17 | HG01074.hp2 HG01109.hp2 HG01515.hp2 others(14): Show |
intron_variant | MODIFIER | c.1363+467A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734448 | ||||||
| chr7:74734485
|
G | A | 1 | a0001c0001t0002g0049 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1363+504G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734485 | ||||||
| chr7:74734532
|
C | T | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1363+551C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734532 | ||||||
| chr7:74734542
|
C | T | 1 | a0001c0001t0002g0122 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1363+561C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734542 | ||||||
| chr7:74734929
|
T | C | 2 | a0001c0001t0002g0122a0001c0001t0002g0128 | 2 | HG02615.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1364-532T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734929 | ||||||
| chr7:74735072
|
A | G | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1364-389A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735072 | ||||||
| chr7:74735132
|
G | A | 2 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1364-329G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735132 | ||||||
| chr7:74735194
|
A | G | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1364-267A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735194 | ||||||
| chr7:74735655
|
G | GT | 14 | a0001c0001t0001g0052a0001c0001t0001g0063a0001c0001t0002g0132others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.1435+135dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr7 | 74735655 | |||||
| chr7:74735655
|
GT | G | 11 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 11 | HG00735.hp2 HG01074.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1435+135delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr7 | 74735655 | |||||
| chr7:74735656
|
T | G | 11 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(8): Show | 11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1435+124T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735656 | ||||||
| chr7:74735666
|
T | G | 11 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(8): Show | 11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1435+134T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735666 | ||||||
| chr7:74735667
|
T | G | 13 | a0001c0001t0001g0021a0001c0001t0002g0150a0001c0002t0001g0001others(10): Show | 13 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1435+135T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735667 | ||||||
| chr7:74735669
|
G | T | 11 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(8): Show | 11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1435+137G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735669 | ||||||
| chr7:74735670
|
G | T | 12 | a0001c0001t0001g0021a0001c0002t0001g0001a0001c0002t0001g0094others(9): Show | 12 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1435+138G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735670 | ||||||
| chr7:74735671
|
T | G | 3 | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0007t0002g0036 | 3 | HG00735.hp2 HG01258.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1435+139T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735671 | ||||||
| chr7:74735761
|
C | T | 2 | a0001c0001t0002g0130a0001c0001t0002g0137 | 2 | HG01978.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1435+229C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735761 | ||||||
| chr7:74735762
|
G | A | 1 | a0001c0001t0001g0069 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1435+230G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735762 | ||||||
| chr7:74735788
|
C | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1435+256C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735788 | ||||||
| chr7:74735915
|
C | T | 1 | a0001c0002t0001g0098 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1435+383C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735915 | ||||||
| chr7:74735960
|
C | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1435+428C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735960 | ||||||
| chr7:74736034
|
G | A | 2 | a0001c0001t0001g0057a0001c0001t0001g0078 | 2 | NA19065.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.1436-466G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736034 | ||||||
| chr7:74736293
|
A | T | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1436-207A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736293 | ||||||
| chr7:74736406
|
T | G | 1 | a0001c0001t0002g0160 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1436-94T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736406 | ||||||
| chr7:74736915
|
G | A | 127 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(124): Show | 127 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.1619+232G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74736915 | ||||||
| chr7:74737064
|
A | G | 14 | a0001c0001t0001g0021a0001c0001t0002g0142a0001c0001t0002g0150others(11): Show | 14 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1619+381A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737064 | ||||||
| chr7:74737201
|
T | TAA | 12 | a0001c0001t0001g0021a0001c0002t0001g0001a0001c0002t0001g0094others(9): Show | 12 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1619+529_1619+530d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr7 | 74737201 | |||||
| chr7:74737217
|
A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1619+534A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737217 | ||||||
| chr7:74737227
|
T | C | 14 | a0001c0001t0001g0021a0001c0001t0002g0142a0001c0001t0002g0150others(11): Show | 14 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1619+544T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737227 | ||||||
| chr7:74737275
|
C | T | 13 | a0001c0001t0002g0142a0001c0001t0002g0150a0001c0002t0001g0001others(10): Show | 13 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1619+592C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737275 | ||||||
| chr7:74737483
|
CAG | C | 12 | a0001c0001t0001g0021a0001c0002t0001g0001a0001c0002t0001g0094others(9): Show | 12 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1620-559_1620-558d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr7 | 74737483 | |||||
| chr7:74737601
|
G | A | 144 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(141): Show | 144 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.1620-444G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737601 | ||||||
| chr7:74737774
|
G | C | 14 | a0001c0001t0001g0021a0001c0001t0002g0142a0001c0001t0002g0150others(11): Show | 14 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1620-271G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737774 | ||||||
| chr7:74738034
|
T | C | 11 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(8): Show | 11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1620-11T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74738034 | ||||||
| chr7:74738404
|
G | A | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.1678+301G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738404 | ||||||
| chr7:74738423
|
G | GA | 23 | a0001c0001t0001g0065a0001c0001t0001g0084a0001c0001t0002g0113others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1678+338dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738423 | |||||
| chr7:74738423
|
GA | G | 7 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(4): Show | 7 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1678+338delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738423 | |||||
| chr7:74738459
|
G | T | 139 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(136): Show | 139 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show |
intron_variant | MODIFIER | c.1678+356G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738459 | ||||||
| chr7:74738594
|
CA | C | 6 | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0124others(3): Show | 6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.1678+493delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738594 | |||||
| chr7:74738735
|
A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1678+632A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738735 | ||||||
| chr7:74738896
|
CAA | C | 138 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(135): Show | 138 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.1678+795_1678+796d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738896 | |||||
| chr7:74739024
|
C | CT | 9 | a0001c0001t0003g0016a0001c0002t0001g0001a0001c0002t0001g0094others(6): Show | 9 | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.1678+945dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
C | CTT | 5 | a0001c0002t0001g0098a0001c0002t0001g0101a0001c0002t0001g0102others(2): Show | 5 | HG02615.hp2 HG03017.hp1 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.1678+944_1678+945d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1678+936_1678+945d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
C | CTTTTTTT others(4): Show |
1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1678+935_1678+945d others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
C | CTTTTTTT others(5): Show |
1 | a0002c0003t0001g0008 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1678+934_1678+945d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
C | CTTTTTTT others(20): Show |
1 | a0002c0003t0001g0009 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1678+945_1678+946i others(29): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
CTTTT | C | 6 | a0001c0001t0001g0029a0001c0001t0001g0067a0001c0001t0002g0011others(3): Show | 6 | HG01071.hp1 HG01074.hp1 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1678+942_1678+945d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739024
|
CTTTTT | C | 126 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0030others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.1678+941_1678+945d others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | |||||
| chr7:74739054
|
G | A | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1678+951G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739054 | ||||||
| chr7:74739143
|
G | A | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1678+1040G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739143 | ||||||
| chr7:74739350
|
G | A | 9 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(6): Show | 9 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1678+1247G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739350 | ||||||
| chr7:74739476
|
A | G | 3 | a0001c0001t0001g0021a0001c0001t0002g0127a0001c0004t0001g0110 | 3 | HG01192.hp2 NA19030.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1678+1373A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739476 | ||||||
| chr7:74739514
|
A | G | 1 | a0001c0002t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1678+1411A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739514 | ||||||
| chr7:74739548
|
T | C | 1 | a0001c0001t0002g0132 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1678+1445T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739548 | ||||||
| chr7:74740780
|
T | G | 4 | a0001c0001t0001g0021a0001c0001t0002g0031a0001c0001t0002g0032others(1): Show | 4 | HG02559.hp1 HG03041.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1679-2669T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740780 | ||||||
| chr7:74740892
|
C | G | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1679-2557C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740892 | ||||||
| chr7:74740902
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1679-2547C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740902 | ||||||
| chr7:74740982
|
A | C | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1679-2467A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740982 | ||||||
| chr7:74740998
|
C | T | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1679-2451C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740998 | ||||||
| chr7:74741058
|
T | TTTTG | 137 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(134): Show | 137 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.1679-2375_1679-237 others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74741058 | |||||
| chr7:74741123
|
A | T | 2 | a0001c0002t0001g0116a0001c0002t0001g0117 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1679-2326A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741123 | ||||||
| chr7:74741240
|
T | C | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.1679-2209T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741240 | ||||||
| chr7:74741284
|
C | T | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1679-2165C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741284 | ||||||
| chr7:74741671
|
G | A | 4 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0002t0001g0094others(1): Show | 4 | HG01515.hp2 HG02451.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1679-1778G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741671 | ||||||
| chr7:74741863
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0002t0001g0094others(1): Show | 4 | HG01515.hp2 HG02451.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1679-1586T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741863 | ||||||
| chr7:74741875
|
G | A | 2 | a0001c0002t0001g0111a0001c0002t0001g0115 | 2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1679-1574G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741875 | ||||||
| chr7:74742222
|
C | G | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1679-1227C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742222 | ||||||
| chr7:74742265
|
C | T | 2 | a0001c0001t0001g0053a0001c0001t0001g0059 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1679-1184C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742265 | ||||||
| chr7:74742509
|
T | C | 2 | a0001c0001t0001g0051a0001c0001t0002g0040 | 2 | HG01258.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1679-940T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742509 | ||||||
| chr7:74742669
|
T | C | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1679-780T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742669 | ||||||
| chr7:74742692
|
G | T | 4 | a0001c0001t0002g0146a0001c0001t0002g0156a0001c0001t0002g0158others(1): Show | 4 | HG02155.hp1 HG03831.hp1 NA18960.hp2 others(1): Show |
intron_variant | MODIFIER | c.1679-757G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742692 | ||||||
| chr7:74742734
|
G | A | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1679-715G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742734 | ||||||
| chr7:74742744
|
C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1679-705C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742744 | ||||||
| chr7:74743047
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1679-402G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743047 | ||||||
| chr7:74743048
|
T | C | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1679-401T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743048 | ||||||
| chr7:74743089
|
G | A | 2 | a0001c0001t0002g0011a0001c0001t0002g0012 | 2 | HG01071.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.1679-360G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743089 | ||||||
| chr7:74743137
|
C | T | 2 | a0001c0001t0002g0129a0001c0001t0002g0160 | 2 | HG02148.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1679-312C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743137 | ||||||
| chr7:74743288
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1679-161G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743288 | ||||||
| chr7:74743302
|
G | A | 1 | a0001c0001t0002g0152 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1679-147G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743302 | ||||||
| chr7:74743317
|
T | C | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1679-132T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743317 | ||||||
| chr7:74743612
|
A | G | 3 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0002t0001g0002 | 3 | HG00639.hp2 HG02630.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.1750+92A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743612 | ||||||
| chr7:74743630
|
T | C | 1 | a0001c0002t0001g0098 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1750+110T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743630 | ||||||
| chr7:74743650
|
A | G | 2 | a0001c0002t0001g0094a0001c0002t0001g0100 | 2 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1750+130A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743650 | ||||||
| chr7:74743664
|
A | G | 37 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0051others(34): Show | 37 | HG00140.hp2 HG00738.hp2 HG01071.hp1 others(34): Show |
intron_variant | MODIFIER | c.1750+144A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743664 | ||||||
| chr7:74743686
|
A | C | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1750+166A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743686 | ||||||
| chr7:74743693
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1750+173C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743693 | ||||||
| chr7:74743694
|
G | T | 129 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.1750+174G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743694 | ||||||
| chr7:74743700
|
G | C | 1 | a0001c0002t0001g0106 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1750+180G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743700 | ||||||
| chr7:74743701
|
A | G | 1 | a0001c0002t0001g0106 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1750+181A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743701 | ||||||
| chr7:74743711
|
G | A | 54 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0027others(51): Show | 54 | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.1750+191G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743711 | ||||||
| chr7:74743883
|
C | CA | 67 | a0001c0001t0001g0044a0001c0001t0001g0077a0001c0001t0001g0085others(64): Show | 67 | HG00099.hp1 HG00639.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.1750+379dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr7 | 74743883 | |||||
| chr7:74743883
|
CA | C | 20 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(17): Show | 20 | HG00140.hp2 HG01074.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.1750+379delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr7 | 74743883 | |||||
| chr7:74744574
|
A | T | 4 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(1): Show | 4 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751-184A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74744574 | ||||||
| chr7:74745175
|
G | A | 18 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(15): Show | 18 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1934+234G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745175 | ||||||
| chr7:74745189
|
T | C | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.1934+248T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745189 | ||||||
| chr7:74745306
|
C | T | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1934+365C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745306 | ||||||
| chr7:74745352
|
C | G | 3 | a0001c0001t0001g0076a0001c0002t0001g0101a0001c0002t0001g0102 | 3 | HG02572.hp2 HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1934+411C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745352 | ||||||
| chr7:74745750
|
A | G | 3 | a0001c0002t0001g0108a0001c0002t0001g0111a0001c0002t0001g0115 | 3 | HG01168.hp2 HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1935-133A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745750 | ||||||
| chr7:74745754
|
A | G | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1935-129A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745754 | ||||||
| chr7:74745847
|
G | A | 2 | a0001c0001t0001g0051a0001c0001t0001g0076 | 2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1935-36G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745847 | ||||||
| chr7:74746038
|
G | A | 3 | a0001c0001t0001g0052a0001c0001t0001g0060a0001c0001t0001g0070 | 3 | HG02258.hp1 HG02723.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1993+97G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746038 | ||||||
| chr7:74746071
|
T | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1993+130T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746071 | ||||||
| chr7:74746107
|
T | A | 4 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0059others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993+166T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746107 | ||||||
| chr7:74746108
|
T | A | 126 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.1993+167T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746108 | ||||||
| chr7:74746108
|
T | TA | 4 | a0001c0001t0002g0033a0001c0001t0002g0040a0001c0001t0002g0041others(1): Show | 4 | HG00735.hp2 HG01258.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993+174dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr7 | 74746108 | |||||
| chr7:74746298
|
T | C | 3 | a0001c0001t0002g0138a0001c0001t0002g0139a0001c0001t0002g0163 | 3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1994-39T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746298 | ||||||
| chr7:74746419
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | splice_region_variant&intron_variant | LOW | c.2068+8C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746419 | ||||||
| chr7:74746451
|
GT | G | 40 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(37): Show | 40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.2068+43delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74746451 | |||||
| chr7:74746737
|
G | C | 148 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(145): Show | 148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2068+326G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746737 | ||||||
| chr7:74746842
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2068+431A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746842 | ||||||
| chr7:74746861
|
G | A | 2 | a0001c0001t0002g0140a0001c0001t0002g0145 | 2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.2068+450G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746861 | ||||||
| chr7:74746877
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2068+466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746877 | ||||||
| chr7:74746926
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2068+515G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746926 | ||||||
| chr7:74747097
|
A | G | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2068+686A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747097 | ||||||
| chr7:74747112
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2068+701C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747112 | ||||||
| chr7:74747229
|
T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2069-786T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747229 | ||||||
| chr7:74747305
|
C | T | 1 | a0001c0001t0002g0045 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2069-710C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747305 | ||||||
| chr7:74747310
|
A | G | 94 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(91): Show | 94 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.2069-705A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747310 | ||||||
| chr7:74747450
|
C | T | 2 | a0001c0001t0002g0140a0001c0001t0002g0145 | 2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.2069-565C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747450 | ||||||
| chr7:74747792
|
C | CAA | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2069-206_2069-205d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747792 | |||||
| chr7:74747792
|
CA | C | 135 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 135 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(132): Show |
intron_variant | MODIFIER | c.2069-205delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747792 | |||||
| chr7:74747806
|
AAAAAG | A | 5 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.2069-206_2069-202d others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747806 | |||||
| chr7:74747808
|
A | G | 2 | a0001c0001t0001g0021a0001c0001t0002g0032 | 2 | HG03041.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.2069-207A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747808 | ||||||
| chr7:74747856
|
A | C | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2069-159A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747856 | ||||||
| chr7:74747878
|
G | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2069-137G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747878 | ||||||
| chr7:74747983
|
T | A | 1 | a0001c0001t0001g0069 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2069-32T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747983 | ||||||
| chr7:74748302
|
C | T | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2170+186C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748302 | ||||||
| chr7:74748521
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2170+405G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748521 | ||||||
| chr7:74748548
|
T | C | 1 | a0001c0002t0001g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2170+432T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748548 | ||||||
| chr7:74748704
|
G | C | 1 | a0001c0005t0002g0165 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2171-321G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748704 | ||||||
| chr7:74748709
|
C | T | 128 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(125): Show | 128 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.2171-316C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748709 | ||||||
| chr7:74748876
|
C | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2171-149C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748876 | ||||||
| chr7:74749264
|
G | T | 1 | a0001c0004t0001g0110 | 1 | NA21309.hp2 | splice_region_variant&intron_variant | LOW | c.2237-4G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 25/34 | chr7 | 74749264 | ||||||
| chr7:74749686
|
C | G | 2 | a0001c0001t0001g0053a0001c0001t0001g0059 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2420+235C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749686 | ||||||
| chr7:74749688
|
A | G | 6 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(3): Show | 6 | HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2420+237A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749688 | ||||||
| chr7:74749764
|
T | C | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2420+313T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749764 | ||||||
| chr7:74749884
|
A | G | 2 | a0001c0002t0001g0099a0001c0002t0001g0114 | 2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2420+433A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749884 | ||||||
| chr7:74750155
|
AATGGGCC others(10): Show |
A | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.2420+707_2420+723d others(19): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750155 | |||||
| chr7:74750277
|
C | CA | 58 | a0001c0001t0001g0057a0001c0001t0001g0085a0001c0001t0002g0045others(55): Show | 58 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.2420+844dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750277 | |||||
| chr7:74750277
|
C | CAA | 5 | a0001c0001t0002g0128a0001c0001t0002g0132a0001c0001t0002g0142others(2): Show | 5 | HG02071.hp2 HG02615.hp1 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.2420+843_2420+844d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750277 | |||||
| chr7:74750295
|
A | AG | 2 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2420+844_2420+845i others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750295 | ||||||
| chr7:74750377
|
G | A | 4 | a0001c0001t0002g0134a0001c0001t0002g0153a0001c0001t0002g0157others(1): Show | 4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.2420+926G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750377 | ||||||
| chr7:74750587
|
T | C | 7 | a0001c0001t0002g0135a0001c0001t0002g0146a0001c0001t0002g0156others(4): Show | 7 | HG00738.hp1 HG02071.hp2 HG02155.hp1 others(4): Show |
intron_variant | MODIFIER | c.2421-774T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750587 | ||||||
| chr7:74750593
|
C | CT | 13 | a0001c0001t0001g0088a0001c0002t0001g0003a0001c0002t0001g0004others(10): Show | 13 | HG01256.hp1 HG01258.hp2 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.2421-740dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | |||||
| chr7:74750593
|
CT | C | 56 | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0051others(53): Show | 56 | HG00639.hp2 HG00673.hp1 HG00673.hp2 others(53): Show |
intron_variant | MODIFIER | c.2421-740delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | |||||
| chr7:74750593
|
CTT | C | 58 | a0001c0001t0001g0007a0001c0001t0001g0027a0001c0001t0001g0028others(55): Show | 58 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.2421-741_2421-740d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | |||||
| chr7:74750593
|
CTTT | C | 5 | a0001c0001t0001g0005a0001c0001t0001g0006a0002c0003t0001g0008others(2): Show | 5 | HG01074.hp2 HG02895.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2421-742_2421-740d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | |||||
| chr7:74750593
|
CTTTTTTT others(1): Show |
C | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2421-747_2421-740d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | |||||
| chr7:74750636
|
C | T | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051 | 3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2421-725C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750636 | ||||||
| chr7:74750901
|
C | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2421-460C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750901 | ||||||
| chr7:74750905
|
CAATG | C | 134 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 134 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.2421-455_2421-452d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750905 | ||||||
| chr7:74750954
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2421-407C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750954 | ||||||
| chr7:74751035
|
C | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2421-326C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74751035 | ||||||
| chr7:74751058
|
G | C | 147 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.2421-303G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74751058 | ||||||
| chr7:74751490
|
C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2476+74C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751490 | ||||||
| chr7:74751526
|
A | AT | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2476+111dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr7 | 74751526 | |||||
| chr7:74751673
|
C | T | 2 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2476+257C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751673 | ||||||
| chr7:74751677
|
T | G | 2 | a0001c0001t0001g0119a0001c0001t0005g0118 | 2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.2476+261T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751677 | ||||||
| chr7:74751726
|
G | A | 1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2476+310G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751726 | ||||||
| chr7:74751880
|
TGTGA | T | 2 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2477-206_2477-203d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr7 | 74751880 | |||||
| chr7:74751899
|
C | T | 3 | a0001c0001t0002g0135a0001c0001t0002g0170a0001c0001t0007g0147 | 3 | HG00738.hp1 HG02071.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.2477-191C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751899 | ||||||
| chr7:74752177
|
G | T | 85 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(82): Show | 85 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(82): Show |
splice_region_variant&intron_variant | LOW | c.2557+7G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752177 | ||||||
| chr7:74752216
|
G | C | 2 | a0001c0004t0001g0082a0001c0004t0001g0110 | 2 | HG03225.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2557+46G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752216 | ||||||
| chr7:74752353
|
G | A | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2557+183G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752353 | ||||||
| chr7:74752402
|
G | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2557+232G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752402 | ||||||
| chr7:74752582
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2557+412G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752582 | ||||||
| chr7:74752901
|
T | C | 1 | a0001c0001t0002g0128 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2558-193T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752901 | ||||||
| chr7:74753024
|
T | A | 41 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(38): Show | 41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.2558-70T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74753024 | ||||||
| chr7:74753040
|
T | TA | 7 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(4): Show | 7 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.2558-40dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr7 | 74753040 | |||||
| chr7:74753258
|
G | A | 6 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(3): Show | 6 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.2641+81G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753258 | ||||||
| chr7:74753426
|
C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2641+249C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753426 | ||||||
| chr7:74753629
|
A | C | 1 | a0001c0001t0001g0063 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2642-217A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753629 | ||||||
| chr7:74753673
|
CA | C | 5 | a0001c0001t0001g0050a0001c0001t0001g0089a0001c0001t0002g0123others(2): Show | 5 | HG01169.hp2 HG01993.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.2642-159delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | INFO_REALIGN_3_PRIME | chr7 | 74753673 | |||||
| chr7:74754262
|
G | C | 13 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(10): Show | 13 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.2825+233G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754262 | ||||||
| chr7:74754545
|
CAGTT | C | 3 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097 | 3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2825+519_2825+522d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr7 | 74754545 | |||||
| chr7:74754558
|
A | G | 1 | a0001c0001t0002g0173 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2825+529A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754558 | ||||||
| chr7:74754612
|
G | A | 1 | a0001c0007t0002g0036 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2825+583G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754612 | ||||||
| chr7:74754640
|
T | A | 3 | a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010 | 3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2825+611T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754640 | ||||||
| chr7:74754683
|
T | C | 5 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2825+654T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754683 | ||||||
| chr7:74754742
|
A | G | 1 | a0001c0001t0002g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2825+713A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754742 | ||||||
| chr7:74754771
|
T | C | 8 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(5): Show | 8 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.2826-738T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754771 | ||||||
| chr7:74754936
|
T | C | 1 | a0001c0002t0001g0101 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2826-573T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754936 | ||||||
| chr7:74755073
|
A | G | 143 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(140): Show | 143 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
intron_variant | MODIFIER | c.2826-436A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755073 | ||||||
| chr7:74755218
|
A | G | 8 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.2826-291A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755218 | ||||||
| chr7:74755270
|
C | T | 4 | a0001c0001t0001g0007a0002c0003t0001g0008a0002c0003t0001g0009others(1): Show | 4 | HG01074.hp2 HG02622.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2826-239C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755270 | ||||||
| chr7:74755334
|
C | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2826-175C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755334 | ||||||
| chr7:74755807
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+270G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74755807 | ||||||
| chr7:74755841
|
C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+304C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74755841 | ||||||
| chr7:74756100
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+563G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756100 | ||||||
| chr7:74756368
|
C | T | 1 | a0001c0001t0002g0150 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2855-452C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756368 | ||||||
| chr7:74756463
|
A | G | 148 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(145): Show | 148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2855-357A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756463 | ||||||
| chr7:74756534
|
C | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2855-286C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756534 | ||||||
| chr7:74756544
|
A | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2855-276A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756544 | ||||||
| chr7:74756778
|
A | T | 3 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0005g0118 | 3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2855-42A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756778 | ||||||
| chr7:74756913
|
A | AC | 148 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(145): Show | 148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2896+52_2896+53ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74756913 | ||||||
| chr7:74756936
|
T | C | 142 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(139): Show | 142 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(139): Show |
intron_variant | MODIFIER | c.2896+75T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74756936 | ||||||
| chr7:74757244
|
C | G | 140 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(137): Show | 140 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.2896+383C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757244 | ||||||
| chr7:74757327
|
C | T | 56 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(53): Show | 56 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(53): Show |
intron_variant | MODIFIER | c.2896+466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757327 | ||||||
| chr7:74757475
|
C | T | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2897-484C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757475 | ||||||
| chr7:74757742
|
C | T | 145 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.2897-217C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757742 | ||||||
| chr7:74758009
|
G | A | 2 | a0001c0001t0002g0034a0001c0001t0002g0035 | 2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.2938+9G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758009 | ||||||
| chr7:74758039
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2938+39C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758039 | ||||||
| chr7:74758043
|
TTTC | T | 126 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.2938+55_2938+57del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr7 | 74758043 | |||||
| chr7:74758055
|
CTTT | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2938+67_2938+69del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr7 | 74758055 | |||||
| chr7:74758113
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2938+113C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758113 | ||||||
| chr7:74758167
|
T | A | 81 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(78): Show | 81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.2938+167T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758167 | ||||||
| chr7:74758336
|
T | C | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2938+336T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758336 | ||||||
| chr7:74758359
|
A | G | 1 | a0001c0001t0002g0149 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2938+359A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758359 | ||||||
| chr7:74758489
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2939-291C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758489 | ||||||
| chr7:74758890
|
T | C | 4 | a0001c0001t0001g0021a0001c0001t0001g0068a0001c0002t0001g0106others(1): Show | 4 | HG00099.hp2 HG03130.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.*17+35T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74758890 | ||||||
| chr7:74758960
|
G | A | 12 | a0001c0002t0001g0001a0001c0002t0001g0094a0001c0002t0001g0098others(9): Show | 12 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.*17+105G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74758960 | ||||||
| chr7:74759386
|
G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.*18-162G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74759386 | ||||||
| chr7:74759494
|
C | T | 1 | a0001c0001t0002g0107 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.*18-54C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74759494 |