Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2966 |
| ensemblid | ENSG00000145736.15 |
| hgncid | 4656 |
| symbol | GTF2H2 |
| name | general transcription factor IIH subunit 2 |
| refseq_nuc | NM_001515.4 |
| refseq_prot | NP_001506.1 |
| ensembl_nuc | ENST00000274400.10 |
| ensembl_prot | ENSP00000274400.5 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 71035347 |
| end | 71067676 |
| strand | - |
| ver | v1.2 |
| region | chr5:71035347-71067676 |
| region5000 | chr5:71030347-71072676 |
| regionname0 | GTF2H2_chr5_71035347_71067676 |
| regionname5000 | GTF2H2_chr5_71030347_71072676 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 395 | 72 | 25 | 20 | 14 | 2 | 10 | 10 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | MDEEP others(390): Show |
chr5 | 71030347 | 71072676 |
| a0002 | 0/0 | 395 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | MDEEP others(390): Show |
chr5 | 71030347 | 71072676 |
| a0003 | 0/0 | 395 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | MDEEP others(390): Show |
chr5 | 71030347 | 71072676 |
| a0004 | 0/0 | 395 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | MDEEP others(390): Show |
chr5 | 71030347 | 71072676 |
| a0005 | 0/0 | 53 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | MDEEP others(48): Show |
chr5 | 71030347 | 71072676 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 1185 | 46 | 19 | 11 | 8 | 1 | 6 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0001c0002 | 0/0 | 1185 | 25 | 5 | 9 | 6 | 1 | 4 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0001c0006 | 0/0 | 1185 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0002c0003 | 0/0 | 1185 | 3 | 1 | 2 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0003c0004 | 0/0 | 1185 | 2 | 1 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0004c0005 | 0/0 | 1185 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 | ||
| a0005c0007 | 0/0 | 1185 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | ATGGA others(1180): Show |
chr5 | 71030347 | 71072676 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 1734 | 42 | 19 | 8 | 7 | 1 | 6 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0001c0001t0002 | 0/0 | 1734 | 2 | 0 | 2 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0001c0001t0004 | 0/0 | 1734 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0001c0001t0005 | 0/0 | 1734 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0001c0002t0001 | 0/0 | 1734 | 23 | 3 | 9 | 6 | 1 | 4 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0001c0002t0003 | 0/0 | 1733 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1728): Show |
chr5 | 71030347 | 71072676 |
| a0001c0006t0001 | 0/0 | 1734 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0002c0003t0001 | 0/0 | 1734 | 3 | 1 | 2 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0003c0004t0001 | 0/0 | 1734 | 2 | 1 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0004c0005t0001 | 0/0 | 1734 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| a0005c0007t0001 | 0/0 | 1734 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | GAGAG others(1729): Show |
chr5 | 71030347 | 71072676 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 4 | 0 | 0 | 3 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0041 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0004g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0001t0005g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0002 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0008 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0002t0003g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0001c0006t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0002c0003t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0002c0003t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0002c0003t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0003c0004t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0003c0004t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0004c0005t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| a0005c0007t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG00621 | hp2 | a0001 | c0002 | t0001 | g0057 | EAS | CHS | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG00642 | hp1 | a0004 | c0005 | t0001 | g0018 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0010 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01071 | hp1 | a0001 | c0002 | t0001 | g0009 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01175 | hp1 | a0001 | c0002 | t0001 | g0047 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01243 | hp1 | a0001 | c0002 | t0001 | g0061 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01243 | hp2 | a0003 | c0004 | t0001 | g0042 | AMR | PUR | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0055 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01257 | hp1 | a0001 | c0002 | t0001 | g0045 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01433 | hp1 | a0002 | c0003 | t0001 | g0062 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01433 | hp2 | a0001 | c0001 | t0005 | g0067 | AMR | CLM | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01928 | hp1 | a0002 | c0003 | t0001 | g0060 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01952 | hp1 | a0001 | c0002 | t0001 | g0048 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01981 | hp1 | a0001 | c0002 | t0001 | g0046 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG01981 | hp2 | a0001 | c0001 | t0002 | g0011 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0009 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PEL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | ACB | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02809 | hp1 | a0001 | c0002 | t0001 | g0063 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02886 | hp1 | a0001 | c0002 | t0003 | g0065 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02886 | hp2 | a0003 | c0004 | t0001 | g0043 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02922 | hp1 | a0001 | c0002 | t0001 | g0052 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0056 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03139 | hp2 | a0005 | c0007 | t0001 | g0027 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03195 | hp1 | a0001 | c0006 | t0001 | g0029 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0054 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0036 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03486 | hp1 | a0001 | c0002 | t0003 | g0053 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0002 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | ESN | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03540 | hp1 | a0002 | c0003 | t0001 | g0064 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03834 | hp1 | a0001 | c0002 | t0001 | g0049 | SAS | BEB | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG04115 | hp1 | a0001 | c0002 | t0001 | g0008 | SAS | STU | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0035 | SAS | STU | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18948 | hp1 | a0001 | c0002 | t0001 | g0044 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18950 | hp1 | a0001 | c0002 | t0001 | g0059 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18984 | hp1 | a0001 | c0002 | t0001 | g0058 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA18984 | hp2 | a0001 | c0001 | t0004 | g0014 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA19060 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA19066 | hp1 | a0001 | c0002 | t0001 | g0050 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA20805 | hp1 | a0001 | c0002 | t0001 | g0008 | EUR | TSI | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0017 | EUR | TSI | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0066 | AFR | MSL | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | USA | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | USA | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0041 | REF | REF | GTF2H2_chr5_71030347_71072676 | GTF2H2 | chr5 | 71030347 | 71072676 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:71048057 | C | G | 1 | a0002 | 3 | HG01433.hp1 HG01928.hp1 HG03540.hp1 |
missense_variant | MODERATE | c.706G>C | p.Val236Leu | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/16 | 922/1734 | 706/1188 | 236/395 | chr5 | 71048057 | |||
| chr5:71048792 | C | T | 1 | a0004 | 1 | HG00642.hp1 | missense_variant | MODERATE | c.619G>A | p.Val207Ile | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/16 | 835/1734 | 619/1188 | 207/395 | chr5 | 71048792 | |||
| chr5:71055369 | T | C | 1 | a0003 | 2 | HG01243.hp2 HG02886.hp2 |
missense_variant | MODERATE | c.453A>G | p.Ile151Met | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/16 | 669/1734 | 453/1188 | 151/395 | chr5 | 71055369 | |||
| chr5:71055434 | A | T | 1 | a0004 | 1 | HG00642.hp1 | missense_variant | MODERATE | c.388T>A | p.Ser130Thr | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/16 | 604/1734 | 388/1188 | 130/395 | chr5 | 71055434 | |||
| chr5:71061283 | G | A | 1 | a0005 | 1 | HG03139.hp2 | stop_gained | HIGH | c.160C>T | p.Arg54* | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 4/16 | 376/1734 | 160/1188 | 54/395 | chr5 | 71061283 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:71035761 | A | G | 1 | a0001c0006 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.1104T>C | p.Cys368Cys | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 16/16 | 1320/1734 | 1104/1188 | 368/395 | chr5 | 71035761 | |||
| chr5:71042194 | C | T | 2 | a0001c0002 a0002c0003 |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
synonymous_variant | LOW | c.912G>A | p.Glu304Glu | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 13/16 | 1128/1734 | 912/1188 | 304/395 | chr5 | 71042194 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:71035513 | C | T | 1 | a0001c0001t0004 | 1 | NA18984.hp2 | 3_prime_UTR_variant | MODIFIER | c.*164G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 16/16 | 164 | chr5 | 71035513 | ||||||
| chr5:71035521 | AT | A | 1 | a0001c0002t0003 | 2 | HG02886.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*155delA | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 16/16 | 155 | chr5 | 71035521 | ||||||
| chr5:71035522 | T | A | 1 | a0001c0002t0001 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*155A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 16/16 | 155 | chr5 | 71035522 | ||||||
| chr5:71067602 | C | T | 2 | a0001c0001t0002 a0001c0001t0005 |
3 | HG01069.hp2 HG01433.hp2 HG01981.hp2 |
5_prime_UTR_variant | MODIFIER | c.-142G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/16 | 4839 | chr5 | 71067602 | ||||||
| chr5:71067608 | G | A | 1 | a0001c0001t0005 | 1 | HG01433.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-148C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/16 | chr5 | 71067608 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:71036053 | C | T | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-257G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036053 | |||||||
| chr5:71036064 | T | A | 51 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(48): Show |
58 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.1069-268A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036064 | |||||||
| chr5:71036098 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1069-302G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036098 | |||||||
| chr5:71036099 | G | A | 1 | a0001c0002t0001g0045 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1069-303C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036099 | |||||||
| chr5:71036312 | C | T | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-516G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036312 | |||||||
| chr5:71036323 | G | T | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-527C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036323 | |||||||
| chr5:71036354 | C | T | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-558G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036354 | |||||||
| chr5:71036404 | T | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-608A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036404 | |||||||
| chr5:71036412 | A | AG | 22 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(19): Show |
26 | HG00621.hp2 HG01071.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.1069-617_1069-616i others(3): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036412 | |||||||
| chr5:71036412 | A | G | 1 | a0001c0002t0001g0045 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1069-616T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036412 | |||||||
| chr5:71036496 | A | G | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1069-700T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036496 | |||||||
| chr5:71036842 | C | T | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1068+665G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 15/15 | chr5 | 71036842 | |||||||
| chr5:71037743 | G | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-197C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037743 | |||||||
| chr5:71037788 | A | G | 1 | a0001c0002t0001g0045 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1029-242T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037788 | |||||||
| chr5:71037801 | A | G | 53 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(50): Show |
60 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(57): Show |
intron_variant | MODIFIER | c.1029-255T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037801 | |||||||
| chr5:71037833 | A | G | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-287T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037833 | |||||||
| chr5:71037875 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1029-329G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037875 | |||||||
| chr5:71037933 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1029-387A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037933 | |||||||
| chr5:71037974 | C | CA | 22 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(19): Show |
24 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(21): Show |
intron_variant | MODIFIER | c.1029-429dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037974 | |||||||
| chr5:71037974 | CAAAAA | C | 21 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(18): Show |
25 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.1029-433_1029-429d others(7): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71037974 | |||||||
| chr5:71038013 | A | T | 24 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(21): Show |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1029-467T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038013 | |||||||
| chr5:71038169 | G | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-623C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038169 | |||||||
| chr5:71038354 | C | A | 52 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show |
59 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.1029-808G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038354 | |||||||
| chr5:71038428 | C | T | 27 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0002 others(24): Show |
31 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(28): Show |
intron_variant | MODIFIER | c.1029-882G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038428 | |||||||
| chr5:71038463 | T | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-917A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038463 | |||||||
| chr5:71038472 | G | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-926C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038472 | |||||||
| chr5:71038677 | T | A | 1 | a0001c0001t0002g0010 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1029-1131A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71038677 | |||||||
| chr5:71039096 | T | C | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-1550A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71039096 | |||||||
| chr5:71039405 | C | A | 25 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1029-1859G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71039405 | |||||||
| chr5:71039798 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1028+1724G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71039798 | |||||||
| chr5:71040153 | T | C | 39 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(36): Show |
44 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.1028+1369A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71040153 | |||||||
| chr5:71040576 | A | C | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1028+946T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71040576 | |||||||
| chr5:71040837 | C | T | 39 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(36): Show |
44 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.1028+685G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71040837 | |||||||
| chr5:71041144 | TG | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(10): Show |
14 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.1028+377delC | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 14/15 | chr5 | 71041144 | |||||||
| chr5:71041868 | T | C | 1 | a0005c0007t0001g0027 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.926-244A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 13/15 | chr5 | 71041868 | |||||||
| chr5:71042036 | C | G | 1 | a0001c0001t0001g0016 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.925+145G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 13/15 | chr5 | 71042036 | |||||||
| chr5:71042698 | TA | T | 30 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(27): Show |
35 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.822-415delT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042698 | |||||||
| chr5:71042716 | CT | C | 30 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(27): Show |
35 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.822-433delA | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042716 | |||||||
| chr5:71042720 | T | A | 30 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(27): Show |
35 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.822-436A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042720 | |||||||
| chr5:71042722 | G | A | 30 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(27): Show |
35 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.822-438C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042722 | |||||||
| chr5:71042878 | C | A | 31 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(28): Show |
36 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(33): Show |
intron_variant | MODIFIER | c.822-594G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042878 | |||||||
| chr5:71042912 | ATT | A | 28 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0035 others(25): Show |
33 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.822-630_822-629del others(2): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042912 | |||||||
| chr5:71042939 | A | C | 33 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0030 others(30): Show |
38 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.822-655T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042939 | |||||||
| chr5:71042976 | C | G | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show |
13 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.822-692G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71042976 | |||||||
| chr5:71043497 | T | C | 1 | a0001c0001t0001g0034 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.822-1213A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043497 | |||||||
| chr5:71043524 | C | T | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.822-1240G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043524 | |||||||
| chr5:71043607 | G | A | 1 | a0003c0004t0001g0043 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.822-1323C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043607 | |||||||
| chr5:71043612 | C | A | 1 | a0003c0004t0001g0043 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.822-1328G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043612 | |||||||
| chr5:71043678 | C | G | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.822-1394G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043678 | |||||||
| chr5:71043712 | A | G | 54 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(51): Show |
61 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.822-1428T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043712 | |||||||
| chr5:71043742 | G | T | 15 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(12): Show |
17 | HG00642.hp2 HG01433.hp1 HG01928.hp1 others(14): Show |
intron_variant | MODIFIER | c.822-1458C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043742 | |||||||
| chr5:71043924 | G | T | 24 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(21): Show |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.821+1520C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043924 | |||||||
| chr5:71043937 | C | CT | 22 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(19): Show |
26 | HG01071.hp1 HG01175.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.821+1506dupA | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043937 | |||||||
| chr5:71043943 | C | T | 24 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(21): Show |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.821+1501G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71043943 | |||||||
| chr5:71044045 | G | T | 24 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(21): Show |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.821+1399C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71044045 | |||||||
| chr5:71044077 | T | TTTTTC | 4 | a0001c0006t0001g0029 a0002c0003t0001g0060 a0002c0003t0001g0062 others(1): Show |
4 | HG01243.hp2 HG01433.hp1 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.821+1362_821+1366d others(7): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71044077 | |||||||
| chr5:71044224 | C | T | 1 | a0001c0001t0001g0007 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.821+1220G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71044224 | |||||||
| chr5:71044932 | A | G | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.821+512T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71044932 | |||||||
| chr5:71044966 | G | C | 1 | a0001c0001t0001g0023 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.821+478C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71044966 | |||||||
| chr5:71045045 | A | G | 4 | a0001c0006t0001g0029 a0002c0003t0001g0060 a0002c0003t0001g0062 others(1): Show |
4 | HG01433.hp1 HG01928.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.821+399T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045045 | |||||||
| chr5:71045054 | G | A | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.821+390C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045054 | |||||||
| chr5:71045061 | A | G | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.821+383T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045061 | |||||||
| chr5:71045169 | C | A | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.821+275G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045169 | |||||||
| chr5:71045358 | T | C | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.821+86A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045358 | |||||||
| chr5:71045416 | C | T | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.821+28G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 12/15 | chr5 | 71045416 | |||||||
| chr5:71045554 | G | A | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.758-47C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71045554 | |||||||
| chr5:71045698 | T | C | 54 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(51): Show |
61 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.758-191A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71045698 | |||||||
| chr5:71045902 | C | T | 3 | a0001c0006t0001g0029 a0002c0003t0001g0060 a0002c0003t0001g0062 |
3 | HG01433.hp1 HG01928.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.758-395G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71045902 | |||||||
| chr5:71046010 | C | CCTT | 3 | a0001c0006t0001g0029 a0002c0003t0001g0060 a0002c0003t0001g0062 |
3 | HG01433.hp1 HG01928.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.758-504_758-503ins others(3): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046010 | |||||||
| chr5:71046135 | T | A | 36 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(33): Show |
41 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.758-628A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046135 | |||||||
| chr5:71046362 | G | A | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.758-855C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046362 | |||||||
| chr5:71046395 | C | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(10): Show |
14 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.758-888G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046395 | |||||||
| chr5:71046551 | T | C | 37 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(34): Show |
43 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(40): Show |
intron_variant | MODIFIER | c.758-1044A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046551 | |||||||
| chr5:71046578 | T | C | 4 | a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0061 others(1): Show |
4 | HG01243.hp1 HG02922.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.758-1071A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046578 | |||||||
| chr5:71046606 | A | C | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.758-1099T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046606 | |||||||
| chr5:71046732 | A | G | 37 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(34): Show |
43 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(40): Show |
intron_variant | MODIFIER | c.758-1225T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046732 | |||||||
| chr5:71046736 | G | A | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.758-1229C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046736 | |||||||
| chr5:71046961 | C | CA | 23 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(20): Show |
27 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(24): Show |
intron_variant | MODIFIER | c.757+1044dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046961 | |||||||
| chr5:71046984 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.757+1022C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71046984 | |||||||
| chr5:71047062 | C | T | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.757+944G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047062 | |||||||
| chr5:71047204 | C | T | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.757+802G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047204 | |||||||
| chr5:71047417 | C | A | 18 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(15): Show |
22 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.757+589G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047417 | |||||||
| chr5:71047433 | T | A | 1 | a0002c0003t0001g0060 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.757+573A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047433 | |||||||
| chr5:71047527 | C | T | 22 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(19): Show |
26 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(23): Show |
intron_variant | MODIFIER | c.757+479G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047527 | |||||||
| chr5:71047649 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.757+357C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047649 | |||||||
| chr5:71047733 | C | T | 7 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0023 others(4): Show |
8 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.757+273G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047733 | |||||||
| chr5:71047737 | C | T | 2 | a0002c0003t0001g0060 a0002c0003t0001g0062 |
2 | HG01433.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.757+269G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047737 | |||||||
| chr5:71047962 | G | A | 25 | a0001c0001t0001g0028 a0001c0002t0001g0002 a0001c0002t0001g0008 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.757+44C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 11/15 | chr5 | 71047962 | |||||||
| chr5:71048167 | C | A | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.650-54G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048167 | |||||||
| chr5:71048174 | T | C | 25 | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0002t0001g0002 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.650-61A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048174 | |||||||
| chr5:71048193 | T | C | 15 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(12): Show |
16 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.650-80A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048193 | |||||||
| chr5:71048320 | A | G | 1 | a0001c0002t0001g0049 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.650-207T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048320 | |||||||
| chr5:71048324 | T | C | 38 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(35): Show |
43 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.650-211A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048324 | |||||||
| chr5:71048445 | T | C | 1 | a0003c0004t0001g0043 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.649+317A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048445 | |||||||
| chr5:71048465 | G | A | 2 | a0001c0001t0001g0031 a0001c0001t0001g0032 |
2 | HG01928.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.649+297C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048465 | |||||||
| chr5:71048606 | T | C | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show |
13 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.649+156A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 10/15 | chr5 | 71048606 | |||||||
| chr5:71048965 | C | A | 10 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(7): Show |
12 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.561+103G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 9/15 | chr5 | 71048965 | |||||||
| chr5:71049322 | T | C | 1 | a0001c0001t0001g0034 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.471-164A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71049322 | |||||||
| chr5:71049327 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.471-169G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71049327 | |||||||
| chr5:71049363 | T | C | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0037 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.471-205A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71049363 | |||||||
| chr5:71049444 | G | A | 1 | a0001c0002t0001g0055 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.471-286C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71049444 | |||||||
| chr5:71049653 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.471-495G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71049653 | |||||||
| chr5:71050259 | G | A | 12 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(9): Show |
14 | HG00642.hp2 HG02145.hp1 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.471-1101C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71050259 | |||||||
| chr5:71050333 | T | C | 52 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show |
59 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.471-1175A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71050333 | |||||||
| chr5:71050435 | A | G | 47 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 others(44): Show |
53 | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(50): Show |
intron_variant | MODIFIER | c.471-1277T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71050435 | |||||||
| chr5:71050439 | CA | C | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show |
13 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.471-1282delT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71050439 | |||||||
| chr5:71050734 | A | G | 10 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(7): Show |
10 | HG01433.hp2 HG01928.hp2 HG02004.hp2 others(7): Show |
intron_variant | MODIFIER | c.471-1576T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71050734 | |||||||
| chr5:71051035 | CG | C | 8 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.471-1878delC | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71051035 | |||||||
| chr5:71051091 | C | T | 9 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(6): Show |
10 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.471-1933G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71051091 | |||||||
| chr5:71051491 | C | T | 5 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
5 | HG01433.hp2 HG03239.hp2 HG04115.hp2 others(2): Show |
intron_variant | MODIFIER | c.471-2333G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71051491 | |||||||
| chr5:71051723 | T | C | 10 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0028 others(7): Show |
12 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.471-2565A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71051723 | |||||||
| chr5:71052037 | T | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(10): Show |
15 | HG00642.hp2 HG01069.hp1 HG01069.hp2 others(12): Show |
intron_variant | MODIFIER | c.471-2879A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052037 | |||||||
| chr5:71052177 | C | T | 8 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.471-3019G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052177 | |||||||
| chr5:71052206 | T | C | 9 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(6): Show |
10 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.471-3048A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052206 | |||||||
| chr5:71052270 | C | T | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.470+3082G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052270 | |||||||
| chr5:71052360 | G | C | 2 | a0001c0002t0001g0045 a0001c0002t0001g0046 |
2 | HG01257.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.470+2992C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052360 | |||||||
| chr5:71052457 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.470+2895C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052457 | |||||||
| chr5:71052915 | A | AT | 3 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0010 |
4 | HG01069.hp2 HG03490.hp1 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.470+2436dupA | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | AT | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0022 others(1): Show |
6 | HG02145.hp1 HG02895.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.470+2436delA | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATT | A | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 others(6): Show |
9 | HG00642.hp2 HG01175.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.470+2435_470+2436d others(4): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTT | A | 20 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(17): Show |
24 | HG00621.hp2 HG01071.hp1 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.470+2434_470+2436d others(5): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTTT | A | 4 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 others(1): Show |
4 | HG01928.hp2 HG02004.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+2433_470+2436d others(6): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTTTT | A | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG01433.hp2 HG02809.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+2432_470+2436d others(7): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTTTTTT others(2): Show |
A | 7 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(4): Show |
8 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(5): Show |
intron_variant | MODIFIER | c.470+2428_470+2436d others(11): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTTTTTT others(6): Show |
A | 1 | a0004c0005t0001g0018 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.470+2424_470+2436d others(15): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052915 | ATTTTTTT others(10): Show |
A | 1 | a0001c0001t0001g0051 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.470+2420_470+2436d others(19): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052915 | |||||||
| chr5:71052920 | T | G | 2 | a0001c0002t0001g0047 a0002c0003t0001g0060 |
2 | HG01175.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.470+2432A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052920 | |||||||
| chr5:71052921 | T | G | 20 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(17): Show |
24 | HG00621.hp2 HG01071.hp1 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.470+2431A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052921 | |||||||
| chr5:71052922 | T | G | 4 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 others(1): Show |
4 | HG01928.hp2 HG02004.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+2430A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052922 | |||||||
| chr5:71052923 | T | G | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG01433.hp2 HG02809.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+2429A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052923 | |||||||
| chr5:71052955 | G | A | 8 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.470+2397C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71052955 | |||||||
| chr5:71053016 | A | C | 1 | a0001c0002t0001g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.470+2336T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053016 | |||||||
| chr5:71053282 | T | C | 8 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.470+2070A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053282 | |||||||
| chr5:71053314 | G | T | 1 | a0001c0001t0005g0067 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.470+2038C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053314 | |||||||
| chr5:71053361 | C | G | 8 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.470+1991G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053361 | |||||||
| chr5:71053411 | G | A | 3 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 |
3 | HG02809.hp2 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.470+1941C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053411 | |||||||
| chr5:71053564 | T | TA | 6 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0030 others(3): Show |
7 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.470+1787dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053564 | |||||||
| chr5:71053705 | T | C | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.470+1647A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053705 | |||||||
| chr5:71053766 | A | G | 7 | a0001c0001t0001g0028 a0001c0002t0001g0045 a0001c0002t0001g0046 others(4): Show |
7 | HG01243.hp2 HG01257.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+1586T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053766 | |||||||
| chr5:71053827 | C | T | 2 | a0001c0002t0001g0058 a0001c0002t0001g0059 |
2 | NA18950.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.470+1525G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71053827 | |||||||
| chr5:71054185 | T | G | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+1167A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054185 | |||||||
| chr5:71054228 | C | G | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+1124G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054228 | |||||||
| chr5:71054258 | G | A | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+1094C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054258 | |||||||
| chr5:71054297 | T | G | 4 | a0001c0001t0001g0028 a0001c0006t0001g0029 a0003c0004t0001g0042 others(1): Show |
4 | HG01243.hp2 HG02145.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.470+1055A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054297 | |||||||
| chr5:71054322 | G | A | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+1030C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054322 | |||||||
| chr5:71054325 | A | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(10): Show |
14 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.470+1027T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054325 | |||||||
| chr5:71054353 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.470+999G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054353 | |||||||
| chr5:71054421 | G | A | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+931C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054421 | |||||||
| chr5:71054501 | C | A | 1 | a0001c0001t0001g0038 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.470+851G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054501 | |||||||
| chr5:71054514 | G | A | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+838C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054514 | |||||||
| chr5:71054661 | C | T | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.470+691G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054661 | |||||||
| chr5:71054700 | A | T | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.470+652T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054700 | |||||||
| chr5:71054711 | A | G | 1 | a0003c0004t0001g0043 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.470+641T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054711 | |||||||
| chr5:71054712 | C | CGT | 17 | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0026 others(14): Show |
21 | HG00609.hp1 HG00609.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.470+638_470+639dup others(2): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054712 | |||||||
| chr5:71054712 | C | CGTGT | 7 | a0001c0001t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0052 others(4): Show |
7 | HG01257.hp1 HG02886.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.470+636_470+639dup others(4): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054712 | |||||||
| chr5:71054712 | C | T | 2 | a0001c0001t0001g0028 a0003c0004t0001g0043 |
2 | HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+640G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054712 | |||||||
| chr5:71054712 | CGTGTGTG others(3): Show |
C | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.470+630_470+639del others(10): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054712 | |||||||
| chr5:71054751 | GTA | G | 8 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0030 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.470+599_470+600del others(2): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054751 | |||||||
| chr5:71054753 | A | G | 32 | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(29): Show |
35 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(32): Show |
intron_variant | MODIFIER | c.470+599T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054753 | |||||||
| chr5:71054755 | A | G | 3 | a0001c0001t0001g0028 a0001c0002t0001g0050 a0003c0004t0001g0043 |
3 | HG02145.hp2 HG02886.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.470+597T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054755 | |||||||
| chr5:71054757 | A | G | 1 | a0001c0001t0001g0028 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.470+595T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054757 | |||||||
| chr5:71054767 | T | C | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+585A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054767 | |||||||
| chr5:71054984 | C | T | 2 | a0003c0004t0001g0042 a0003c0004t0001g0043 |
2 | HG01243.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+368G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71054984 | |||||||
| chr5:71055100 | A | C | 3 | a0001c0001t0001g0028 a0003c0004t0001g0042 a0003c0004t0001g0043 |
3 | HG01243.hp2 HG02145.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+252T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71055100 | |||||||
| chr5:71055125 | G | A | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.470+227C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71055125 | |||||||
| chr5:71055187 | G | A | 2 | a0003c0004t0001g0042 a0003c0004t0001g0043 |
2 | HG01243.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+165C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71055187 | |||||||
| chr5:71055238 | T | C | 2 | a0003c0004t0001g0042 a0003c0004t0001g0043 |
2 | HG01243.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+114A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71055238 | |||||||
| chr5:71055297 | G | A | 2 | a0003c0004t0001g0042 a0003c0004t0001g0043 |
2 | HG01243.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.470+55C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 8/15 | chr5 | 71055297 | |||||||
| chr5:71055735 | C | T | 1 | a0001c0002t0001g0047 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.365-278G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71055735 | |||||||
| chr5:71055813 | T | C | 1 | a0001c0002t0001g0044 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.365-356A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71055813 | |||||||
| chr5:71055857 | ATGT | A | 2 | a0001c0002t0001g0058 a0001c0002t0001g0059 |
2 | NA18950.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.365-403_365-401del others(3): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71055857 | |||||||
| chr5:71056177 | T | C | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.365-720A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056177 | |||||||
| chr5:71056428 | A | G | 3 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 |
4 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.365-971T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056428 | |||||||
| chr5:71056469 | A | G | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show |
13 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.365-1012T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056469 | |||||||
| chr5:71056549 | A | G | 1 | a0004c0005t0001g0018 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.365-1092T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056549 | |||||||
| chr5:71056682 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.365-1225G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056682 | |||||||
| chr5:71056839 | G | A | 5 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(2): Show |
6 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.365-1382C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056839 | |||||||
| chr5:71056858 | G | C | 1 | a0001c0002t0001g0047 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.365-1401C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71056858 | |||||||
| chr5:71057385 | G | A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.365-1928C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71057385 | |||||||
| chr5:71057390 | T | G | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.365-1933A>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71057390 | |||||||
| chr5:71057431 | C | T | 5 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0030 others(2): Show |
6 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.365-1974G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71057431 | |||||||
| chr5:71057696 | C | T | 10 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(7): Show |
10 | HG01433.hp2 HG01928.hp2 HG02004.hp2 others(7): Show |
intron_variant | MODIFIER | c.364+1994G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71057696 | |||||||
| chr5:71057797 | A | C | 1 | a0001c0002t0001g0050 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.364+1893T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71057797 | |||||||
| chr5:71058125 | A | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+1565T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058125 | |||||||
| chr5:71058200 | CA | C | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(14): Show |
19 | HG01069.hp2 HG02145.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.364+1489delT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058200 | |||||||
| chr5:71058200 | CAAAA | C | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+1486_364+1489d others(6): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058200 | |||||||
| chr5:71058223 | T | C | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+1467A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058223 | |||||||
| chr5:71058290 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.364+1400G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058290 | |||||||
| chr5:71058316 | A | G | 10 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(7): Show |
10 | HG01433.hp2 HG01928.hp2 HG02004.hp2 others(7): Show |
intron_variant | MODIFIER | c.364+1374T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058316 | |||||||
| chr5:71058512 | G | GA | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+1177dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71058512 | |||||||
| chr5:71059036 | A | C | 37 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(34): Show |
41 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(38): Show |
intron_variant | MODIFIER | c.364+654T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059036 | |||||||
| chr5:71059036 | A | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+654T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059036 | |||||||
| chr5:71059196 | T | C | 3 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 |
4 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.364+494A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059196 | |||||||
| chr5:71059389 | CA | C | 24 | a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0008 others(21): Show |
28 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.364+300delT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059389 | |||||||
| chr5:71059389 | CAA | C | 25 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(22): Show |
27 | HG00642.hp2 HG01243.hp2 HG01433.hp2 others(24): Show |
intron_variant | MODIFIER | c.364+299_364+300del others(2): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059389 | |||||||
| chr5:71059393 | A | G | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.364+297T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059393 | |||||||
| chr5:71059415 | G | GA | 4 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 others(1): Show |
5 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.364+274dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059415 | |||||||
| chr5:71059446 | T | A | 3 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 |
4 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.364+244A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059446 | |||||||
| chr5:71059492 | C | T | 3 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 |
4 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.364+198G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 7/15 | chr5 | 71059492 | |||||||
| chr5:71060116 | G | A | 1 | a0004c0005t0001g0018 | 1 | HG00642.hp1 | splice_region_variant&intron_variant | LOW | c.309+4C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 6/15 | chr5 | 71060116 | |||||||
| chr5:71060228 | C | T | 3 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0039 |
4 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-58G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 5/15 | chr5 | 71060228 | |||||||
| chr5:71060264 | A | G | 32 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0030 others(29): Show |
37 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.259-94T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 5/15 | chr5 | 71060264 | |||||||
| chr5:71060365 | T | C | 25 | a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0008 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.259-195A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 5/15 | chr5 | 71060365 | |||||||
| chr5:71060427 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.259-257C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 5/15 | chr5 | 71060427 | |||||||
| chr5:71061875 | C | T | 12 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(9): Show |
14 | HG02145.hp1 HG02145.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.57-110G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 2/15 | chr5 | 71061875 | |||||||
| chr5:71062254 | G | T | 1 | a0001c0002t0001g0048 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.56+454C>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 2/15 | chr5 | 71062254 | |||||||
| chr5:71062313 | A | G | 6 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(3): Show |
7 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.56+395T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 2/15 | chr5 | 71062313 | |||||||
| chr5:71062457 | C | G | 1 | a0001c0002t0001g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.56+251G>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 2/15 | chr5 | 71062457 | |||||||
| chr5:71063177 | G | A | 29 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(26): Show |
32 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.-33-381C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71063177 | |||||||
| chr5:71063636 | A | G | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show |
13 | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.-33-840T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71063636 | |||||||
| chr5:71063804 | T | C | 1 | a0001c0001t0001g0038 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-33-1008A>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71063804 | |||||||
| chr5:71064056 | G | A | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-33-1260C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064056 | |||||||
| chr5:71064174 | C | A | 1 | a0001c0002t0001g0047 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-33-1378G>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064174 | |||||||
| chr5:71064241 | A | G | 4 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0002g0010 others(1): Show |
5 | HG01069.hp2 HG01952.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.-33-1445T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064241 | |||||||
| chr5:71064556 | C | T | 1 | a0001c0001t0001g0019 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-33-1760G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064556 | |||||||
| chr5:71064623 | G | A | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-33-1827C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064623 | |||||||
| chr5:71064665 | C | CA | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(14): Show |
19 | HG01071.hp2 HG01243.hp1 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.-33-1870dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71064665 | |||||||
| chr5:71065410 | C | T | 1 | a0001c0006t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-34+2084G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065410 | |||||||
| chr5:71065421 | G | A | 3 | a0001c0002t0001g0063 a0001c0002t0003g0065 a0002c0003t0001g0064 |
3 | HG02809.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-34+2073C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065421 | |||||||
| chr5:71065495 | A | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1999T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065495 | |||||||
| chr5:71065582 | A | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1912T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065582 | |||||||
| chr5:71065708 | G | A | 35 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(32): Show |
40 | HG00621.hp2 HG00642.hp2 HG01071.hp1 others(37): Show |
intron_variant | MODIFIER | c.-34+1786C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065708 | |||||||
| chr5:71065961 | G | C | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1533C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065961 | |||||||
| chr5:71065967 | GCA | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1525_-34+1526d others(4): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71065967 | |||||||
| chr5:71066151 | A | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1343T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066151 | |||||||
| chr5:71066193 | A | G | 1 | a0001c0002t0001g0047 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-34+1301T>C | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066193 | |||||||
| chr5:71066196 | A | C | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+1298T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066196 | |||||||
| chr5:71066466 | G | A | 1 | a0003c0004t0001g0042 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-34+1028C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066466 | |||||||
| chr5:71066631 | A | C | 15 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(12): Show |
16 | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.-34+863T>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066631 | |||||||
| chr5:71066661 | C | T | 6 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0002t0001g0002 others(3): Show |
8 | HG01069.hp2 HG01255.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.-34+833G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066661 | |||||||
| chr5:71066810 | G | A | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+684C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066810 | |||||||
| chr5:71066811 | T | A | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+683A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066811 | |||||||
| chr5:71066839 | G | C | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+655C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066839 | |||||||
| chr5:71066907 | G | A | 19 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0030 others(16): Show |
21 | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.-34+587C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066907 | |||||||
| chr5:71066989 | G | C | 1 | a0001c0001t0001g0007 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.-34+505C>G | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71066989 | |||||||
| chr5:71067045 | C | T | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+449G>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067045 | |||||||
| chr5:71067087 | G | A | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+407C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067087 | |||||||
| chr5:71067124 | G | GA | 25 | a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0008 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.-34+369dupT | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067124 | |||||||
| chr5:71067134 | A | T | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+360T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067134 | |||||||
| chr5:71067135 | A | T | 2 | a0001c0001t0002g0010 a0001c0001t0002g0011 |
2 | HG01069.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.-34+359T>A | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067135 | |||||||
| chr5:71067136 | T | A | 25 | a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0008 others(22): Show |
29 | HG00621.hp2 HG01071.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.-34+358A>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067136 | |||||||
| chr5:71067356 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-34+138C>T | GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/15 | chr5 | 71067356 |