| geneid | 93035 |
|---|---|
| ensemblid | ENSG00000205038.12 |
| hgncid | 20313 |
| symbol | PKHD1L1 |
| name | PKHD1 like 1 |
| refseq_nuc | NM_177531.6 |
| refseq_prot | NP_803875.2 |
| ensembl_nuc | ENST00000378402.10 |
| ensembl_prot | ENSP00000367655.5 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 109362461 |
| end | 109537207 |
| strand | + |
| ver | v1.2 |
| region | chr8:109362461-109537207 |
| region5000 | chr8:109357461-109542207 |
| regionname0 | PKHD1L1_chr8_109362461_109537207 |
| regionname5000 | PKHD1L1_chr8_109357461_109542207 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 4243 | 68 | 5 | 17 | 36 | 3 | 7 | 29 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002 | 1/0 | 4243 | 58 | 7 | 14 | 27 | 3 | 6 | 21 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003 | 0/0 | 4243 | 20 | 3 | 5 | 0 | 3 | 9 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004 | 0/0 | 4243 | 15 | 0 | 8 | 4 | 2 | 1 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0005 | 0/0 | 4243 | 9 | 9 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0006 | 0/0 | 4243 | 7 | 6 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007 | 0/0 | 4243 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0008 | 0/0 | 4243 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0009 | 0/0 | 4243 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0010 | 0/0 | 4243 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0011 | 0/0 | 4243 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0012 | 0/0 | 4243 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0013 | 0/0 | 4243 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0014 | 0/0 | 4243 | 3 | 0 | 2 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0015 | 0/0 | 4243 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0016 | 0/0 | 4243 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0017 | 0/0 | 4243 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0018 | 0/0 | 4243 | 2 | 0 | 0 | 1 | 0 | 1 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0019 | 0/0 | 4243 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0020 | 0/0 | 4243 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0021 | 0/0 | 4243 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0022 | 0/0 | 4243 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0023 | 0/0 | 4243 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0024 | 0/0 | 4243 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0025 | 0/0 | 4243 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0026 | 0/0 | 4243 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0027 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0028 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0029 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0030 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0031 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0032 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0033 | 0/0 | 4243 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0034 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0035 | 0/0 | 791 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0036 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0037 | 0/0 | 4243 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0038 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0039 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0040 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0041 | 0/0 | 4243 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0042 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0043 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0044 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0045 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0046 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0047 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0048 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0049 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0050 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0051 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0052 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0053 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0054 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0055 | 0/0 | 4243 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0056 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0057 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0058 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0059 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0060 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0061 | 0/0 | 1786 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0062 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0063 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0064 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0065 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0066 | 0/0 | 4243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0067 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0068 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0069 | 0/0 | 4243 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0070 | 0/0 | 4243 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0071 | 0/1 | 4243 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 12732 | 63 | 5 | 16 | 33 | 3 | 6 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0002 | 1/0 | 12732 | 57 | 7 | 14 | 26 | 3 | 6 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0003 | 0/0 | 12732 | 17 | 1 | 5 | 0 | 3 | 8 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0004 | 0/0 | 12732 | 14 | 0 | 8 | 4 | 1 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0005 | 0/0 | 12732 | 8 | 8 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0006 | 0/0 | 12732 | 7 | 6 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0007 | 0/0 | 12732 | 6 | 5 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0008 | 0/0 | 12732 | 5 | 4 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0009 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0010 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0011 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0012 | 0/0 | 12732 | 4 | 0 | 0 | 4 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0013 | 0/0 | 12732 | 3 | 3 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0014 | 0/0 | 12732 | 3 | 0 | 2 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0015 | 0/0 | 12732 | 3 | 2 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0016 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0017 | 0/0 | 12732 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0018 | 0/0 | 12732 | 2 | 0 | 0 | 0 | 2 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0019 | 0/0 | 12732 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0020 | 0/0 | 12732 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0021 | 0/0 | 12732 | 2 | 0 | 0 | 1 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0022 | 0/0 | 12732 | 2 | 0 | 2 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0023 | 0/0 | 12732 | 2 | 0 | 0 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0024 | 0/0 | 12732 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0025 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0026 | 0/0 | 12732 | 2 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0027 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0028 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0029 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0030 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0031 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0032 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0033 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0034 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0035 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0036 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0037 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0038 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0039 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0040 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0041 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0042 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0043 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0044 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0045 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0046 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0047 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0048 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0049 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0050 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0051 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0052 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0053 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0054 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0055 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0056 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0057 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0058 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0059 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0060 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0061 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0062 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0063 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0064 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0065 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0066 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0067 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0068 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0069 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0070 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0071 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0072 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0073 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0074 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0075 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0076 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0077 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0078 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0079 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0080 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0081 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0082 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| c0083 | 0/1 | 12732 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 7238 | 80 | 9 | 18 | 39 | 5 | 8 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0002 | 0/0 | 7238 | 53 | 1 | 12 | 30 | 3 | 7 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0003 | 0/0 | 7223 | 25 | 1 | 6 | 0 | 4 | 14 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0004 | 0/0 | 7239 | 18 | 13 | 3 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0005 | 0/0 | 7238 | 11 | 11 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0006 | 0/0 | 7237 | 10 | 9 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0007 | 0/0 | 7238 | 7 | 5 | 1 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0008 | 0/0 | 7238 | 7 | 7 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0009 | 0/0 | 7237 | 7 | 6 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0010 | 0/0 | 7238 | 6 | 1 | 5 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0011 | 0/0 | 7238 | 5 | 0 | 0 | 5 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0012 | 0/0 | 7239 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0013 | 0/0 | 7238 | 4 | 2 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0014 | 0/0 | 7226 | 4 | 0 | 4 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0015 | 0/0 | 7222 | 3 | 0 | 1 | 0 | 2 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0016 | 0/0 | 7237 | 3 | 3 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0017 | 0/0 | 7237 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0018 | 0/0 | 7238 | 2 | 0 | 0 | 1 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0019 | 0/0 | 7238 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0020 | 0/0 | 7238 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0021 | 0/0 | 7238 | 2 | 0 | 2 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0022 | 0/0 | 7237 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0023 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0024 | 0/0 | 7239 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0025 | 0/0 | 7239 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0026 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0027 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0028 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0029 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0030 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0031 | 0/0 | 7238 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0032 | 0/0 | 7239 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0033 | 0/0 | 7239 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0034 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0035 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0036 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0037 | 1/0 | 7238 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0038 | 0/0 | 7238 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0039 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0040 | 0/0 | 7238 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0041 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0042 | 0/0 | 7237 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0043 | 0/0 | 7238 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0044 | 0/0 | 7237 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| t0045 | 0/0 | 7238 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 3 | 0 | 0 | 0 | 0 | 3 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0002 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0056 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0095 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0263 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0278 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 12732 | 63 | 5 | 16 | 33 | 3 | 6 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0020 | 0/0 | 12732 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0049 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0053 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0059 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002 | 1/0 | 12732 | 57 | 7 | 14 | 26 | 3 | 6 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0081 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0003 | 0/0 | 12732 | 17 | 1 | 5 | 0 | 3 | 8 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0015 | 0/0 | 12732 | 3 | 2 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004c0004 | 0/0 | 12732 | 14 | 0 | 8 | 4 | 1 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004c0050 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0005c0005 | 0/0 | 12732 | 8 | 8 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0005c0047 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0006c0006 | 0/0 | 12732 | 7 | 6 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0008 | 0/0 | 12732 | 5 | 4 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0072 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0008c0007 | 0/0 | 12732 | 6 | 5 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0009c0012 | 0/0 | 12732 | 4 | 0 | 0 | 4 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0010c0010 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0011c0011 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0012c0009 | 0/0 | 12732 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0013c0024 | 0/0 | 12732 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0013c0064 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0014c0014 | 0/0 | 12732 | 3 | 0 | 2 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0015c0027 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0015c0042 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0016c0013 | 0/0 | 12732 | 3 | 3 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0017c0017 | 0/0 | 12732 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0018c0021 | 0/0 | 12732 | 2 | 0 | 0 | 1 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0019c0019 | 0/0 | 12732 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0020c0022 | 0/0 | 12732 | 2 | 0 | 2 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0021c0026 | 0/0 | 12732 | 2 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0022c0025 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0023c0018 | 0/0 | 12732 | 2 | 0 | 0 | 0 | 2 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0024c0023 | 0/0 | 12732 | 2 | 0 | 0 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0025c0030 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0025c0031 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0026c0016 | 0/0 | 12732 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0027c0029 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0028c0057 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0029c0052 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0030c0055 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0031c0054 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0032c0056 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0033c0058 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0034c0051 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0035c0032 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0036c0078 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0037c0065 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0038c0066 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0039c0071 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0040c0067 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0041c0068 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0042c0082 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0043c0069 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0044c0070 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0045c0080 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0046c0073 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0047c0037 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0048c0035 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0049c0036 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0050c0043 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0051c0060 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0052c0039 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0053c0077 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0054c0040 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0055c0038 | 0/0 | 12732 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0056c0076 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0057c0075 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0058c0074 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0059c0046 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0060c0044 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0061c0063 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0062c0062 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0063c0061 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0064c0034 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0065c0033 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0066c0079 | 0/0 | 12732 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0067c0041 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0068c0048 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0069c0028 | 0/0 | 12732 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0070c0045 | 0/0 | 12732 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0071c0083 | 0/1 | 12732 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 0/0 | 19969 | 45 | 1 | 10 | 25 | 3 | 6 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0007 | 0/0 | 19969 | 4 | 3 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0010 | 0/0 | 19969 | 6 | 1 | 5 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0011 | 0/0 | 19969 | 4 | 0 | 0 | 4 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0024 | 0/0 | 19970 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0027 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0029 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0001t0034 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0020t0002 | 0/0 | 19969 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0049t0002 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0053t0011 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0001c0059t0002 | 0/0 | 19969 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0001 | 0/0 | 19969 | 44 | 6 | 8 | 22 | 3 | 5 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0013 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0014 | 0/0 | 19957 | 4 | 0 | 4 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0018 | 0/0 | 19969 | 2 | 0 | 0 | 1 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0021 | 0/0 | 19969 | 2 | 0 | 2 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0036 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0037 | 1/0 | 19969 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0043 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0002t0044 | 0/0 | 19968 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0002c0081t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0003t0003 | 0/0 | 19954 | 15 | 1 | 4 | 0 | 2 | 8 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0003t0015 | 0/0 | 19953 | 2 | 0 | 1 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0015t0003 | 0/0 | 19954 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0003c0015t0017 | 0/0 | 19968 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004c0004t0001 | 0/0 | 19969 | 13 | 0 | 8 | 3 | 1 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004c0004t0041 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0004c0050t0040 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0005c0005t0005 | 0/0 | 19969 | 8 | 8 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0005c0047t0005 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0006c0006t0009 | 0/0 | 19968 | 7 | 6 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0008t0001 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0008t0019 | 0/0 | 19969 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0008t0020 | 0/0 | 19969 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0007c0072t0001 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0008c0007t0006 | 0/0 | 19968 | 6 | 5 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0009c0012t0001 | 0/0 | 19969 | 4 | 0 | 0 | 4 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0010c0010t0006 | 0/0 | 19968 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0011c0011t0008 | 0/0 | 19969 | 3 | 3 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0011c0011t0045 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0012c0009t0004 | 0/0 | 19970 | 4 | 4 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0013c0024t0001 | 0/0 | 19969 | 2 | 0 | 0 | 2 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0013c0064t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0014c0014t0003 | 0/0 | 19954 | 3 | 0 | 2 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0015c0027t0016 | 0/0 | 19968 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0015c0042t0016 | 0/0 | 19968 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0016c0013t0012 | 0/0 | 19970 | 3 | 3 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0017c0017t0004 | 0/0 | 19970 | 2 | 1 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0018c0021t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0018c0021t0038 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0019c0019t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0019c0019t0025 | 0/0 | 19970 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0020c0022t0004 | 0/0 | 19970 | 2 | 0 | 2 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0021c0026t0013 | 0/0 | 19969 | 2 | 0 | 1 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0022c0025t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0022c0025t0032 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0023c0018t0003 | 0/0 | 19954 | 2 | 0 | 0 | 0 | 2 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0024c0023t0004 | 0/0 | 19970 | 2 | 0 | 0 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0025c0030t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0025c0031t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0026c0016t0008 | 0/0 | 19969 | 2 | 2 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0027c0029t0023 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0028c0057t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0029c0052t0002 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0030c0055t0007 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0031c0054t0003 | 0/0 | 19954 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0032c0056t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0033c0058t0002 | 0/0 | 19969 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0034c0051t0002 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0035c0032t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0036c0078t0007 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0037c0065t0001 | 0/0 | 19969 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0038c0066t0001 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0039c0071t0039 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0040c0067t0005 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0041c0068t0001 | 0/0 | 19969 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0042c0082t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0043c0069t0001 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0044c0070t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0045c0080t0002 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0046c0073t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0047c0037t0028 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0048c0035t0033 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0049c0036t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0050c0043t0030 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0051c0060t0005 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0052c0039t0015 | 0/0 | 19953 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0053c0077t0042 | 0/0 | 19968 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0054c0040t0003 | 0/0 | 19954 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0055c0038t0031 | 0/0 | 19969 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0056c0076t0022 | 0/0 | 19968 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0057c0075t0035 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0058c0074t0013 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0059c0046t0004 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0060c0044t0012 | 0/0 | 19970 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0061c0063t0008 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0062c0062t0026 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0063c0061t0008 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0064c0034t0003 | 0/0 | 19954 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0065c0033t0007 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0066c0079t0001 | 0/0 | 19969 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0067c0041t0022 | 0/0 | 19968 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0068c0048t0001 | 0/0 | 19969 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0069c0028t0001 | 0/0 | 19969 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0070c0045t0003 | 0/0 | 19954 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| a0071c0083t0001 | 0/1 | 19969 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | copy fasta | chr8 | 109357461 | 109542207 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0002g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0007g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0007g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0007g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0007g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0010g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0011g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0011g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0011g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0011g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0024g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0027g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0029g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0001t0034g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0020t0002g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0020t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0049t0002g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0053t0011g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0001c0059t0002g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0013g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0014g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0014g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0014g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0014g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0018g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0018g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0021g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0021g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0036g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0037g0095 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0043g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0002t0044g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0002c0081t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0001 | 0/0 | 3 | 0 | 0 | 0 | 0 | 3 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0003g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0015g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0003t0015g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0015t0003g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0015t0017g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0003c0015t0017g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0001g0278 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0004t0041g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0004c0050t0040g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0005t0005g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0005c0047t0005g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0006c0006t0009g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0008t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0008t0019g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0008t0019g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0008t0020g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0008t0020g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0007c0072t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0008c0007t0006g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0009c0012t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0009c0012t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0009c0012t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0009c0012t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0010c0010t0006g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0010c0010t0006g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0010c0010t0006g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0010c0010t0006g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0011c0011t0008g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0011c0011t0008g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0011c0011t0008g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0011c0011t0045g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0012c0009t0004g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0012c0009t0004g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0012c0009t0004g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0012c0009t0004g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0013c0024t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0013c0024t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0013c0064t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0014c0014t0003g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0014c0014t0003g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0014c0014t0003g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0015c0027t0016g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0015c0027t0016g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0015c0042t0016g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0016c0013t0012g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0016c0013t0012g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0016c0013t0012g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0017c0017t0004g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0017c0017t0004g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0018c0021t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0018c0021t0038g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0019c0019t0004g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0019c0019t0025g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0020c0022t0004g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0020c0022t0004g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0021c0026t0013g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0021c0026t0013g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0022c0025t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0022c0025t0032g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0023c0018t0003g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0023c0018t0003g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0024c0023t0004g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0024c0023t0004g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0025c0030t0004g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0025c0031t0004g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0026c0016t0008g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0026c0016t0008g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0027c0029t0023g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0028c0057t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0029c0052t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0030c0055t0007g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0031c0054t0003g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0032c0056t0004g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0033c0058t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0034c0051t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0035c0032t0004g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0036c0078t0007g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0037c0065t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0038c0066t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0039c0071t0039g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0040c0067t0005g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0041c0068t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0042c0082t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0043c0069t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0044c0070t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0045c0080t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0046c0073t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0047c0037t0028g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0048c0035t0033g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0049c0036t0004g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0050c0043t0030g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0051c0060t0005g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0052c0039t0015g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0053c0077t0042g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0054c0040t0003g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0055c0038t0031g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0056c0076t0022g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0057c0075t0035g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0058c0074t0013g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0059c0046t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0060c0044t0012g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0061c0063t0008g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0062c0062t0026g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0063c0061t0008g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0064c0034t0003g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0065c0033t0007g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0066c0079t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0067c0041t0022g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0068c0048t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0069c0028t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0070c0045t0003g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| a0071c0083t0001g0056 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0002 | c0002 | t0001 | g0085 | EUR | GBR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00099 | hp2 | a0023 | c0018 | t0003 | g0163 | EUR | GBR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0205 | EUR | GBR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00140 | hp2 | a0003 | c0003 | t0003 | g0165 | EUR | GBR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00280 | hp1 | a0004 | c0004 | t0001 | g0278 | EUR | FIN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00280 | hp2 | a0052 | c0039 | t0015 | g0004 | EUR | FIN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00323 | hp1 | a0023 | c0018 | t0003 | g0162 | EUR | FIN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00323 | hp2 | a0038 | c0066 | t0001 | g0054 | EUR | FIN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0119 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00408 | hp2 | a0004 | c0004 | t0001 | g0242 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00423 | hp1 | a0004 | c0004 | t0001 | g0241 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00423 | hp2 | a0045 | c0080 | t0002 | g0058 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00544 | hp1 | a0002 | c0002 | t0001 | g0066 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0237 | EAS | CHS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00639 | hp1 | a0003 | c0003 | t0003 | g0174 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00639 | hp2 | a0002 | c0002 | t0001 | g0036 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00642 | hp1 | a0004 | c0004 | t0001 | g0249 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00642 | hp2 | a0055 | c0038 | t0031 | g0154 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00733 | hp1 | a0002 | c0002 | t0001 | g0068 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00733 | hp2 | a0019 | c0019 | t0025 | g0246 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00735 | hp1 | a0001 | c0001 | t0010 | g0193 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00735 | hp2 | a0002 | c0002 | t0001 | g0063 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00741 | hp1 | a0003 | c0003 | t0003 | g0175 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG00741 | hp2 | a0021 | c0026 | t0013 | g0130 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01069 | hp1 | a0002 | c0002 | t0001 | g0078 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01069 | hp2 | a0001 | c0059 | t0002 | g0271 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01074 | hp1 | a0004 | c0004 | t0001 | g0197 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01074 | hp2 | a0006 | c0006 | t0009 | g0032 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01081 | hp1 | a0001 | c0001 | t0002 | g0185 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01081 | hp2 | a0004 | c0004 | t0001 | g0196 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01099 | hp1 | a0002 | c0002 | t0001 | g0061 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01099 | hp2 | a0001 | c0001 | t0002 | g0233 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01106 | hp1 | a0002 | c0002 | t0001 | g0128 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01109 | hp1 | a0017 | c0017 | t0004 | g0273 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01109 | hp2 | a0002 | c0002 | t0014 | g0071 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01167 | hp1 | a0002 | c0002 | t0021 | g0117 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01167 | hp2 | a0008 | c0007 | t0006 | g0018 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01168 | hp1 | a0037 | c0065 | t0001 | g0096 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01168 | hp2 | a0014 | c0014 | t0003 | g0178 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01169 | hp1 | a0002 | c0002 | t0021 | g0116 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01169 | hp2 | a0014 | c0014 | t0003 | g0173 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01175 | hp1 | a0033 | c0058 | t0002 | g0186 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01175 | hp2 | a0004 | c0004 | t0001 | g0244 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0232 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01192 | hp2 | a0003 | c0003 | t0015 | g0003 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01243 | hp1 | a0007 | c0008 | t0019 | g0089 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0198 | AMR | PUR | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01255 | hp1 | a0002 | c0002 | t0014 | g0103 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0235 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01257 | hp1 | a0001 | c0001 | t0010 | g0191 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01257 | hp2 | a0041 | c0068 | t0001 | g0039 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01261 | hp1 | a0004 | c0004 | t0001 | g0251 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01261 | hp2 | a0001 | c0001 | t0007 | g0262 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01433 | hp1 | a0004 | c0004 | t0001 | g0248 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0206 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01496 | hp1 | a0002 | c0002 | t0001 | g0048 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01496 | hp2 | a0001 | c0001 | t0002 | g0204 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01515 | hp1 | a0002 | c0002 | t0001 | g0084 | EUR | IBS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01515 | hp2 | a0003 | c0003 | t0015 | g0005 | EUR | IBS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01516 | hp1 | a0003 | c0003 | t0003 | g0177 | EUR | IBS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0184 | EUR | IBS | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01884 | hp1 | a0006 | c0006 | t0009 | g0027 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01884 | hp2 | a0012 | c0009 | t0004 | g0147 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01891 | hp1 | a0012 | c0009 | t0004 | g0146 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01891 | hp2 | a0011 | c0011 | t0008 | g0110 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01934 | hp1 | a0020 | c0022 | t0004 | g0122 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01934 | hp2 | a0001 | c0001 | t0010 | g0192 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01952 | hp1 | a0001 | c0001 | t0010 | g0269 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01952 | hp2 | a0004 | c0004 | t0001 | g0240 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0189 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01993 | hp2 | a0002 | c0002 | t0014 | g0073 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02004 | hp1 | a0001 | c0001 | t0002 | g0195 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02004 | hp2 | a0003 | c0003 | t0003 | g0171 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0041 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02027 | hp2 | a0001 | c0001 | t0002 | g0217 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02040 | hp1 | a0044 | c0070 | t0001 | g0094 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02040 | hp2 | a0001 | c0001 | t0002 | g0270 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02055 | hp1 | a0002 | c0002 | t0001 | g0007 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02055 | hp2 | a0057 | c0075 | t0035 | g0021 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0188 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02083 | hp2 | a0002 | c0002 | t0001 | g0082 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02132 | hp1 | a0002 | c0002 | t0001 | g0080 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02132 | hp2 | a0034 | c0051 | t0002 | g0250 | EAS | KHV | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02145 | hp1 | a0002 | c0002 | t0013 | g0113 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02145 | hp2 | a0035 | c0032 | t0004 | g0157 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02155 | hp1 | a0042 | c0082 | t0001 | g0070 | EAS | CDX | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0218 | EAS | CDX | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02257 | hp1 | a0008 | c0007 | t0006 | g0019 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02257 | hp2 | a0027 | c0029 | t0023 | g0272 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02258 | hp1 | a0010 | c0010 | t0006 | g0014 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02258 | hp2 | a0001 | c0001 | t0007 | g0267 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02273 | hp1 | a0001 | c0001 | t0010 | g0190 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02273 | hp2 | a0002 | c0002 | t0001 | g0072 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02280 | hp1 | a0011 | c0011 | t0045 | g0108 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02280 | hp2 | a0003 | c0015 | t0017 | g0129 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02293 | hp1 | a0002 | c0002 | t0014 | g0104 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02293 | hp2 | a0020 | c0022 | t0004 | g0121 | AMR | PEL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02451 | hp1 | a0053 | c0077 | t0042 | g0026 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02451 | hp2 | a0065 | c0033 | t0007 | g0135 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02572 | hp1 | a0008 | c0007 | t0006 | g0011 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02572 | hp2 | a0060 | c0044 | t0012 | g0020 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02615 | hp1 | a0015 | c0027 | t0016 | g0023 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02615 | hp2 | a0040 | c0067 | t0005 | g0115 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02622 | hp1 | a0015 | c0042 | t0016 | g0158 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02622 | hp2 | a0005 | c0005 | t0005 | g0279 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02630 | hp1 | a0025 | c0030 | t0004 | g0275 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02630 | hp2 | a0059 | c0046 | t0004 | g0009 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02683 | hp1 | a0024 | c0023 | t0004 | g0132 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02683 | hp2 | a0003 | c0003 | t0003 | g0155 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0187 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02698 | hp2 | a0014 | c0014 | t0003 | g0172 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02723 | hp1 | a0025 | c0031 | t0004 | g0276 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02723 | hp2 | a0006 | c0006 | t0009 | g0031 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02735 | hp1 | a0018 | c0021 | t0038 | g0245 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02735 | hp2 | a0003 | c0015 | t0003 | g0133 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02738 | hp1 | a0054 | c0040 | t0003 | g0169 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0037 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02818 | hp1 | a0063 | c0061 | t0008 | g0034 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02818 | hp2 | a0015 | c0027 | t0016 | g0022 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02886 | hp1 | a0047 | c0037 | t0028 | g0156 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02886 | hp2 | a0003 | c0015 | t0017 | g0112 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02895 | hp1 | a0007 | c0008 | t0020 | g0052 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02895 | hp2 | a0019 | c0019 | t0004 | g0180 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02896 | hp1 | a0007 | c0072 | t0001 | g0053 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02896 | hp2 | a0069 | c0028 | t0001 | g0141 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02922 | hp1 | a0001 | c0001 | t0007 | g0261 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0088 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02970 | hp1 | a0067 | c0041 | t0022 | g0134 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02970 | hp2 | a0005 | c0005 | t0005 | g0148 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02976 | hp1 | a0005 | c0005 | t0005 | g0150 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02976 | hp2 | a0017 | c0017 | t0004 | g0274 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03041 | hp1 | a0049 | c0036 | t0004 | g0159 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03041 | hp2 | a0005 | c0047 | t0005 | g0258 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03098 | hp1 | a0006 | c0006 | t0009 | g0028 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03098 | hp2 | a0002 | c0002 | t0001 | g0093 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03130 | hp1 | a0016 | c0013 | t0012 | g0137 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03130 | hp2 | a0002 | c0002 | t0001 | g0008 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03139 | hp1 | a0005 | c0005 | t0005 | g0151 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03139 | hp2 | a0032 | c0056 | t0004 | g0257 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03195 | hp1 | a0005 | c0005 | t0005 | g0149 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03195 | hp2 | a0062 | c0062 | t0026 | g0044 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03209 | hp1 | a0010 | c0010 | t0006 | g0016 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03209 | hp2 | a0006 | c0006 | t0009 | g0033 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03225 | hp1 | a0061 | c0063 | t0008 | g0111 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03225 | hp2 | a0016 | c0013 | t0012 | g0136 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03239 | hp1 | a0070 | c0045 | t0003 | g0167 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03239 | hp2 | a0003 | c0003 | t0003 | g0001 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03453 | hp1 | a0007 | c0008 | t0019 | g0091 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03453 | hp2 | a0022 | c0025 | t0032 | g0124 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03486 | hp1 | a0008 | c0007 | t0006 | g0012 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03486 | hp2 | a0048 | c0035 | t0033 | g0160 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03490 | hp1 | a0043 | c0069 | t0001 | g0179 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03490 | hp2 | a0003 | c0003 | t0003 | g0001 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03491 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03491 | hp2 | a0003 | c0003 | t0003 | g0164 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03492 | hp2 | a0003 | c0003 | t0003 | g0001 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03516 | hp1 | a0012 | c0009 | t0004 | g0143 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03516 | hp2 | a0016 | c0013 | t0012 | g0138 | AFR | ESN | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03540 | hp1 | a0056 | c0076 | t0022 | g0106 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03540 | hp2 | a0005 | c0005 | t0005 | g0145 | AFR | GWD | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03579 | hp1 | a0026 | c0016 | t0008 | g0140 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03579 | hp2 | a0005 | c0005 | t0005 | g0142 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03704 | hp1 | a0004 | c0004 | t0001 | g0238 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0255 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03710 | hp1 | a0002 | c0002 | t0001 | g0086 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0182 | SAS | PJL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03831 | hp1 | a0024 | c0023 | t0004 | g0123 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03831 | hp2 | a0003 | c0003 | t0003 | g0161 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03927 | hp1 | a0003 | c0003 | t0003 | g0166 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03927 | hp2 | a0002 | c0002 | t0018 | g0059 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04115 | hp1 | a0064 | c0034 | t0003 | g0168 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04115 | hp2 | a0021 | c0026 | t0013 | g0131 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0087 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04184 | hp2 | a0031 | c0054 | t0003 | g0203 | SAS | BEB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04199 | hp1 | a0003 | c0003 | t0003 | g0153 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0236 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04204 | hp1 | a0001 | c0049 | t0002 | g0252 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0101 | SAS | STU | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18522 | hp1 | a0001 | c0001 | t0002 | g0256 | AFR | YRI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18522 | hp2 | a0006 | c0006 | t0009 | g0029 | AFR | YRI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18612 | hp1 | a0002 | c0002 | t0001 | g0079 | EAS | CHB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18612 | hp2 | a0001 | c0001 | t0002 | g0216 | EAS | CHB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18747 | hp1 | a0001 | c0001 | t0027 | g0228 | EAS | CHB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18747 | hp2 | a0013 | c0064 | t0001 | g0040 | EAS | CHB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18944 | hp1 | a0028 | c0057 | t0001 | g0181 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18944 | hp2 | a0001 | c0001 | t0002 | g0226 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18949 | hp1 | a0001 | c0001 | t0002 | g0264 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18949 | hp2 | a0066 | c0079 | t0001 | g0098 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18950 | hp1 | a0002 | c0002 | t0001 | g0046 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0221 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0209 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18951 | hp2 | a0002 | c0002 | t0001 | g0042 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18952 | hp1 | a0009 | c0012 | t0001 | g0075 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18952 | hp2 | a0004 | c0004 | t0001 | g0266 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18966 | hp1 | a0002 | c0002 | t0001 | g0064 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18966 | hp2 | a0001 | c0001 | t0002 | g0268 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0227 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18981 | hp2 | a0002 | c0002 | t0001 | g0025 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0045 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18984 | hp2 | a0001 | c0053 | t0011 | g0214 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18986 | hp1 | a0001 | c0001 | t0002 | g0220 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18986 | hp2 | a0002 | c0002 | t0001 | g0099 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18997 | hp1 | a0001 | c0001 | t0002 | g0265 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18997 | hp2 | a0039 | c0071 | t0039 | g0083 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18999 | hp1 | a0001 | c0001 | t0002 | g0183 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18999 | hp2 | a0002 | c0002 | t0001 | g0076 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19001 | hp1 | a0001 | c0001 | t0024 | g0201 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19001 | hp2 | a0002 | c0002 | t0001 | g0051 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19003 | hp1 | a0001 | c0001 | t0002 | g0229 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19003 | hp2 | a0002 | c0002 | t0001 | g0038 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0211 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19004 | hp2 | a0009 | c0012 | t0001 | g0074 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19007 | hp1 | a0002 | c0002 | t0001 | g0077 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19007 | hp2 | a0004 | c0004 | t0041 | g0243 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19030 | hp1 | a0005 | c0005 | t0005 | g0144 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19030 | hp2 | a0002 | c0002 | t0001 | g0126 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19043 | hp1 | a0051 | c0060 | t0005 | g0035 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19043 | hp2 | a0022 | c0025 | t0004 | g0114 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19056 | hp1 | a0001 | c0001 | t0002 | g0208 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19056 | hp2 | a0002 | c0002 | t0036 | g0050 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19060 | hp2 | a0046 | c0073 | t0001 | g0062 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19062 | hp1 | a0002 | c0002 | t0001 | g0100 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19062 | hp2 | a0001 | c0001 | t0011 | g0212 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19064 | hp1 | a0002 | c0002 | t0018 | g0081 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19064 | hp2 | a0001 | c0001 | t0002 | g0202 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19068 | hp1 | a0009 | c0012 | t0001 | g0067 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19068 | hp2 | a0001 | c0020 | t0002 | g0253 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19070 | hp1 | a0001 | c0001 | t0011 | g0213 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19070 | hp2 | a0002 | c0002 | t0001 | g0049 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19078 | hp1 | a0002 | c0002 | t0001 | g0127 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19078 | hp2 | a0001 | c0001 | t0034 | g0230 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19080 | hp1 | a0013 | c0024 | t0001 | g0097 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19080 | hp2 | a0001 | c0001 | t0002 | g0222 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0199 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19081 | hp2 | a0002 | c0081 | t0001 | g0069 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19082 | hp1 | a0002 | c0002 | t0001 | g0043 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19082 | hp2 | a0001 | c0001 | t0002 | g0200 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19083 | hp1 | a0001 | c0001 | t0002 | g0210 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19083 | hp2 | a0002 | c0002 | t0044 | g0060 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19084 | hp1 | a0002 | c0002 | t0001 | g0057 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19084 | hp2 | a0001 | c0020 | t0002 | g0231 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19085 | hp1 | a0009 | c0012 | t0001 | g0102 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19085 | hp2 | a0001 | c0001 | t0011 | g0254 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19086 | hp1 | a0029 | c0052 | t0002 | g0224 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19086 | hp2 | a0002 | c0002 | t0001 | g0125 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19087 | hp1 | a0013 | c0024 | t0001 | g0120 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19087 | hp2 | a0001 | c0001 | t0029 | g0207 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19090 | hp1 | a0018 | c0021 | t0001 | g0223 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19090 | hp2 | a0001 | c0001 | t0002 | g0225 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19240 | hp1 | a0026 | c0016 | t0008 | g0139 | AFR | YRI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA19240 | hp2 | a0030 | c0055 | t0007 | g0260 | AFR | YRI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20129 | hp1 | a0050 | c0043 | t0030 | g0277 | AFR | ASW | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20129 | hp2 | a0010 | c0010 | t0006 | g0015 | AFR | ASW | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20752 | hp1 | a0002 | c0002 | t0001 | g0065 | EUR | TSI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0263 | EUR | TSI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20805 | hp1 | a0036 | c0078 | t0007 | g0047 | EUR | TSI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20805 | hp2 | a0004 | c0050 | t0040 | g0247 | EUR | TSI | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20905 | hp1 | a0002 | c0002 | t0001 | g0118 | SAS | GIH | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20905 | hp2 | a0068 | c0048 | t0001 | g0105 | SAS | GIH | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01123 | hp1 | a0004 | c0004 | t0001 | g0239 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG01123 | hp2 | a0003 | c0003 | t0003 | g0176 | AMR | CLM | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02109 | hp1 | a0011 | c0011 | t0008 | g0109 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02109 | hp2 | a0008 | c0007 | t0006 | g0010 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02486 | hp1 | a0006 | c0006 | t0009 | g0030 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02486 | hp2 | a0001 | c0001 | t0007 | g0259 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02559 | hp1 | a0011 | c0011 | t0008 | g0107 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG02559 | hp2 | a0012 | c0009 | t0004 | g0152 | AFR | ACB | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03471 | hp1 | a0010 | c0010 | t0006 | g0017 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG03471 | hp2 | a0007 | c0008 | t0001 | g0090 | AFR | MSL | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG06807 | hp1 | a0058 | c0074 | t0013 | g0024 | AFR | USA | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| HG06807 | hp2 | a0003 | c0003 | t0003 | g0170 | AFR | USA | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18955 | hp1 | a0001 | c0001 | t0011 | g0215 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA18955 | hp2 | a0002 | c0002 | t0043 | g0055 | EAS | JPT | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20300 | hp1 | a0007 | c0008 | t0020 | g0092 | AFR | USA | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA20300 | hp2 | a0001 | c0001 | t0010 | g0194 | AFR | USA | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA21309 | hp1 | a0002 | c0002 | t0001 | g0006 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| NA21309 | hp2 | a0008 | c0007 | t0006 | g0013 | AFR | LWK | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| homoSapiens_chm13v2 | hp1 | a0071 | c0083 | t0001 | g0056 | REF | REF | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| homoSapiens_grch38 | hp1 | a0002 | c0002 | t0037 | g0095 | REF | REF | PKHD1L1_chr8_109357461_109542207 | PKHD1L1 | chr8 | 109357461 | 109542207 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:109381411
|
G | T | 1 | a0071 | 1 | homoSapiens_chm13v2.hp1 | missense_variant | MODERATE | c.205G>T | p.Ala69Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/78 | 325/19969 | 205/12732 | 69/4243 | chr8 | 109381411 | ||
| chr8:109385551
|
A | G | 1 | a0070 | 1 | HG03239.hp1 | missense_variant | MODERATE | c.490A>G | p.Ile164Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/78 | 610/19969 | 490/12732 | 164/4243 | chr8 | 109385551 | ||
| chr8:109394442
|
T | A | 4 | a0005a0012a0026others(1): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
missense_variant | MODERATE | c.768T>A | p.Phe256Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/78 | 888/19969 | 768/12732 | 256/4243 | chr8 | 109394442 | ||
| chr8:109394468
|
T | C | 1 | a0068 | 1 | NA20905.hp2 | missense_variant | MODERATE | c.794T>C | p.Met265Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/78 | 914/19969 | 794/12732 | 265/4243 | chr8 | 109394468 | ||
| chr8:109400148
|
A | G | 1 | a0067 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.1085A>G | p.Asn362Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/78 | 1205/19969 | 1085/12732 | 362/4243 | chr8 | 109400148 | ||
| chr8:109400182
|
G | C | 2 | a0017a0027 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
missense_variant | MODERATE | c.1119G>C | p.Trp373Cys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/78 | 1239/19969 | 1119/12732 | 373/4243 | chr8 | 109400182 | ||
| chr8:109400331
|
T | G | 1 | a0025 | 2 | HG02630.hp1 HG02723.hp1 |
missense_variant | MODERATE | c.1268T>G | p.Leu423Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/78 | 1388/19969 | 1268/12732 | 423/4243 | chr8 | 109400331 | ||
| chr8:109401523
|
T | A | 1 | a0013 | 3 | NA18747.hp2 NA19080.hp1 NA19087.hp1 |
missense_variant | MODERATE | c.1308T>A | p.Asn436Lys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/78 | 1428/19969 | 1308/12732 | 436/4243 | chr8 | 109401523 | ||
| chr8:109401533
|
T | C | 11 | a0001a0004a0018others(8): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
missense_variant | MODERATE | c.1318T>C | p.Tyr440His | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/78 | 1438/19969 | 1318/12732 | 440/4243 | chr8 | 109401533 | ||
| chr8:109406397
|
A | C | 1 | a0066 | 1 | NA18949.hp2 | missense_variant | MODERATE | c.1732A>C | p.Ile578Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/78 | 1852/19969 | 1732/12732 | 578/4243 | chr8 | 109406397 | ||
| chr8:109409941
|
T | G | 1 | a0020 | 2 | HG01934.hp1 HG02293.hp2 |
missense_variant | MODERATE | c.2048T>G | p.Val683Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/78 | 2168/19969 | 2048/12732 | 683/4243 | chr8 | 109409941 | ||
| chr8:109419112
|
C | A | 1 | a0035 | 1 | HG02145.hp2 | stop_gained | HIGH | c.2376C>A | p.Cys792* | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/78 | 2496/19969 | 2376/12732 | 792/4243 | chr8 | 109419112 | ||
| chr8:109419127
|
T | A | 2 | a0016a0065 | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
missense_variant | MODERATE | c.2391T>A | p.Asp797Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/78 | 2511/19969 | 2391/12732 | 797/4243 | chr8 | 109419127 | ||
| chr8:109419138
|
C | T | 1 | a0036 | 1 | NA20805.hp1 | missense_variant | MODERATE | c.2402C>T | p.Thr801Met | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/78 | 2522/19969 | 2402/12732 | 801/4243 | chr8 | 109419138 | ||
| chr8:109425086
|
T | C | 1 | a0064 | 1 | HG04115.hp1 | missense_variant&splice_region_variant | MODERATE | c.2699T>C | p.Ile900Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/78 | 2819/19969 | 2699/12732 | 900/4243 | chr8 | 109425086 | ||
| chr8:109425155
|
A | G | 51 | a0001a0003a0004others(48): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
missense_variant | MODERATE | c.2768A>G | p.His923Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/78 | 2888/19969 | 2768/12732 | 923/4243 | chr8 | 109425155 | ||
| chr8:109425214
|
T | C | 16 | a0005a0012a0016others(13): Show | 32 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(29): Show |
missense_variant | MODERATE | c.2827T>C | p.Tyr943His | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/78 | 2947/19969 | 2827/12732 | 943/4243 | chr8 | 109425214 | ||
| chr8:109427026
|
C | A | 2 | a0017a0027 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
missense_variant | MODERATE | c.2870C>A | p.Ala957Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/78 | 2990/19969 | 2870/12732 | 957/4243 | chr8 | 109427026 | ||
| chr8:109429353
|
A | G | 5 | a0005a0012a0026others(2): Show | 17 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(14): Show |
missense_variant | MODERATE | c.3014A>G | p.Asn1005Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/78 | 3134/19969 | 3014/12732 | 1005/4243 | chr8 | 109429353 | ||
| chr8:109429400
|
G | A | 1 | a0034 | 1 | HG02132.hp2 | missense_variant | MODERATE | c.3061G>A | p.Gly1021Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/78 | 3181/19969 | 3061/12732 | 1021/4243 | chr8 | 109429400 | ||
| chr8:109435256
|
C | T | 1 | a0033 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.3407C>T | p.Ala1136Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/78 | 3527/19969 | 3407/12732 | 1136/4243 | chr8 | 109435256 | ||
| chr8:109435283
|
G | C | 1 | a0037 | 1 | HG01168.hp1 | missense_variant | MODERATE | c.3434G>C | p.Gly1145Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/78 | 3554/19969 | 3434/12732 | 1145/4243 | chr8 | 109435283 | ||
| chr8:109436406
|
A | G | 23 | a0003a0005a0012others(20): Show | 61 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
missense_variant | MODERATE | c.3574A>G | p.Thr1192Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/78 | 3694/19969 | 3574/12732 | 1192/4243 | chr8 | 109436406 | ||
| chr8:109438364
|
G | T | 1 | a0023 | 2 | HG00099.hp2 HG00323.hp1 |
missense_variant | MODERATE | c.3668G>T | p.Gly1223Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/78 | 3788/19969 | 3668/12732 | 1223/4243 | chr8 | 109438364 | ||
| chr8:109438957
|
C | T | 1 | a0046 | 1 | NA19060.hp2 | missense_variant | MODERATE | c.3821C>T | p.Ala1274Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/78 | 3941/19969 | 3821/12732 | 1274/4243 | chr8 | 109438957 | ||
| chr8:109440799
|
C | A | 1 | a0038 | 1 | HG00323.hp2 | missense_variant | MODERATE | c.4046C>A | p.Thr1349Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/78 | 4166/19969 | 4046/12732 | 1349/4243 | chr8 | 109440799 | ||
| chr8:109440837
|
A | C | 2 | a0056a0067 | 2 | HG02970.hp1 HG03540.hp1 |
missense_variant | MODERATE | c.4084A>C | p.Asn1362His | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/78 | 4204/19969 | 4084/12732 | 1362/4243 | chr8 | 109440837 | ||
| chr8:109442108
|
G | A | 1 | a0014 | 3 | HG01168.hp2 HG01169.hp2 HG02698.hp2 |
missense_variant | MODERATE | c.4306G>A | p.Gly1436Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/78 | 4426/19969 | 4306/12732 | 1436/4243 | chr8 | 109442108 | ||
| chr8:109443092
|
C | A | 43 | a0001a0003a0004others(40): Show | 170 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(167): Show |
missense_variant | MODERATE | c.4540C>A | p.Arg1514Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 36/78 | 4660/19969 | 4540/12732 | 1514/4243 | chr8 | 109443092 | ||
| chr8:109443727
|
C | G | 1 | a0007 | 6 | HG01243.hp1 HG02895.hp1 HG02896.hp1 others(3): Show |
missense_variant | MODERATE | c.4616C>G | p.Thr1539Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/78 | 4736/19969 | 4616/12732 | 1539/4243 | chr8 | 109443727 | ||
| chr8:109444688
|
G | A | 1 | a0006 | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
missense_variant | MODERATE | c.4819G>A | p.Val1607Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 4939/19969 | 4819/12732 | 1607/4243 | chr8 | 109444688 | ||
| chr8:109444778
|
G | C | 1 | a0029 | 1 | NA19086.hp1 | missense_variant | MODERATE | c.4909G>C | p.Val1637Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5029/19969 | 4909/12732 | 1637/4243 | chr8 | 109444778 | ||
| chr8:109444782
|
A | G | 16 | a0003a0008a0010others(13): Show | 48 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(45): Show |
missense_variant | MODERATE | c.4913A>G | p.Tyr1638Cys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5033/19969 | 4913/12732 | 1638/4243 | chr8 | 109444782 | ||
| chr8:109445228
|
C | T | 1 | a0061 | 1 | HG03225.hp1 | stop_gained | HIGH | c.5359C>T | p.Gln1787* | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5479/19969 | 5359/12732 | 1787/4243 | chr8 | 109445228 | ||
| chr8:109445471
|
G | A | 6 | a0011a0020a0022others(3): Show | 12 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(9): Show |
missense_variant | MODERATE | c.5602G>A | p.Glu1868Lys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5722/19969 | 5602/12732 | 1868/4243 | chr8 | 109445471 | ||
| chr8:109445481
|
A | C | 1 | a0039 | 1 | NA18997.hp2 | missense_variant | MODERATE | c.5612A>C | p.Gln1871Pro | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5732/19969 | 5612/12732 | 1871/4243 | chr8 | 109445481 | ||
| chr8:109445494
|
C | G | 1 | a0044 | 1 | HG02040.hp1 | missense_variant | MODERATE | c.5625C>G | p.Ile1875Met | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/78 | 5745/19969 | 5625/12732 | 1875/4243 | chr8 | 109445494 | ||
| chr8:109448235
|
G | A | 2 | a0035a0047 | 2 | HG02145.hp2 HG02886.hp1 |
missense_variant | MODERATE | c.5869G>A | p.Val1957Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/78 | 5989/19969 | 5869/12732 | 1957/4243 | chr8 | 109448235 | ||
| chr8:109448259
|
G | T | 51 | a0001a0003a0004others(48): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
missense_variant | MODERATE | c.5893G>T | p.Val1965Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/78 | 6013/19969 | 5893/12732 | 1965/4243 | chr8 | 109448259 | ||
| chr8:109448278
|
A | C | 1 | a0039 | 1 | NA18997.hp2 | missense_variant | MODERATE | c.5912A>C | p.Asp1971Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/78 | 6032/19969 | 5912/12732 | 1971/4243 | chr8 | 109448278 | ||
| chr8:109451020
|
A | G | 1 | a0032 | 1 | HG03139.hp2 | missense_variant | MODERATE | c.6221A>G | p.Lys2074Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/78 | 6341/19969 | 6221/12732 | 2074/4243 | chr8 | 109451020 | ||
| chr8:109451055
|
G | A | 2 | a0009a0046 | 5 | NA18952.hp1 NA19004.hp2 NA19060.hp2 others(2): Show |
missense_variant | MODERATE | c.6256G>A | p.Ala2086Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/78 | 6376/19969 | 6256/12732 | 2086/4243 | chr8 | 109451055 | ||
| chr8:109451128
|
C | T | 1 | a0044 | 1 | HG02040.hp1 | missense_variant | MODERATE | c.6329C>T | p.Thr2110Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/78 | 6449/19969 | 6329/12732 | 2110/4243 | chr8 | 109451128 | ||
| chr8:109452200
|
A | G | 1 | a0047 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.6427A>G | p.Ile2143Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/78 | 6547/19969 | 6427/12732 | 2143/4243 | chr8 | 109452200 | ||
| chr8:109454180
|
A | G | 1 | a0043 | 1 | HG03490.hp1 | missense_variant | MODERATE | c.6678A>G | p.Ile2226Met | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/78 | 6798/19969 | 6678/12732 | 2226/4243 | chr8 | 109454180 | ||
| chr8:109454742
|
C | T | 1 | a0063 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.6764C>T | p.Pro2255Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/78 | 6884/19969 | 6764/12732 | 2255/4243 | chr8 | 109454742 | ||
| chr8:109456288
|
C | T | 1 | a0030 | 1 | NA19240.hp2 | missense_variant | MODERATE | c.6901C>T | p.Arg2301Cys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/78 | 7021/19969 | 6901/12732 | 2301/4243 | chr8 | 109456288 | ||
| chr8:109459794
|
T | C | 1 | a0052 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.7204T>C | p.Trp2402Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/78 | 7324/19969 | 7204/12732 | 2402/4243 | chr8 | 109459794 | ||
| chr8:109464547
|
G | A | 2 | a0005a0040 | 10 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(7): Show |
missense_variant | MODERATE | c.7715G>A | p.Arg2572Gln | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 7835/19969 | 7715/12732 | 2572/4243 | chr8 | 109464547 | ||
| chr8:109464736
|
C | T | 1 | a0041 | 1 | HG01257.hp2 | missense_variant | MODERATE | c.7904C>T | p.Thr2635Met | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 8024/19969 | 7904/12732 | 2635/4243 | chr8 | 109464736 | ||
| chr8:109464852
|
G | A | 1 | a0053 | 1 | HG02451.hp1 | missense_variant | MODERATE | c.8020G>A | p.Val2674Met | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 8140/19969 | 8020/12732 | 2674/4243 | chr8 | 109464852 | ||
| chr8:109465161
|
G | A | 1 | a0010 | 4 | HG02258.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
missense_variant | MODERATE | c.8329G>A | p.Val2777Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 8449/19969 | 8329/12732 | 2777/4243 | chr8 | 109465161 | ||
| chr8:109466582
|
C | G | 1 | a0049 | 1 | HG03041.hp1 | missense_variant | MODERATE | c.8418C>G | p.His2806Gln | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/78 | 8538/19969 | 8418/12732 | 2806/4243 | chr8 | 109466582 | ||
| chr8:109466593
|
C | A | 1 | a0026 | 2 | HG03579.hp1 NA19240.hp1 |
missense_variant | MODERATE | c.8429C>A | p.Thr2810Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/78 | 8549/19969 | 8429/12732 | 2810/4243 | chr8 | 109466593 | ||
| chr8:109475184
|
C | T | 1 | a0054 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.8672C>T | p.Pro2891Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/78 | 8792/19969 | 8672/12732 | 2891/4243 | chr8 | 109475184 | ||
| chr8:109479611
|
C | G | 37 | a0001a0003a0012others(34): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
missense_variant | MODERATE | c.9150C>G | p.His3050Gln | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/78 | 9270/19969 | 9150/12732 | 3050/4243 | chr8 | 109479611 | ||
| chr8:109480050
|
G | A | 12 | a0012a0017a0019others(9): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
missense_variant | MODERATE | c.9238G>A | p.Val3080Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/78 | 9358/19969 | 9238/12732 | 3080/4243 | chr8 | 109480050 | ||
| chr8:109480099
|
A | C | 1 | a0015 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
missense_variant | MODERATE | c.9287A>C | p.Tyr3096Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/78 | 9407/19969 | 9287/12732 | 3096/4243 | chr8 | 109480099 | ||
| chr8:109480123
|
C | T | 1 | a0021 | 2 | HG00741.hp2 HG04115.hp2 |
missense_variant | MODERATE | c.9311C>T | p.Thr3104Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/78 | 9431/19969 | 9311/12732 | 3104/4243 | chr8 | 109480123 | ||
| chr8:109481441
|
A | C | 1 | a0069 | 1 | HG02896.hp2 | missense_variant | MODERATE | c.9336A>C | p.Arg3112Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/78 | 9456/19969 | 9336/12732 | 3112/4243 | chr8 | 109481441 | ||
| chr8:109483074
|
T | C | 3 | a0005a0040a0051 | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
missense_variant | MODERATE | c.9545T>C | p.Val3182Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/78 | 9665/19969 | 9545/12732 | 3182/4243 | chr8 | 109483074 | ||
| chr8:109491989
|
A | G | 12 | a0012a0017a0019others(9): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
missense_variant | MODERATE | c.10231A>G | p.Ile3411Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/78 | 10351/19969 | 10231/12732 | 3411/4243 | chr8 | 109491989 | ||
| chr8:109493734
|
A | G | 1 | a0038 | 1 | HG00323.hp2 | missense_variant | MODERATE | c.10310A>G | p.Asp3437Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/78 | 10430/19969 | 10310/12732 | 3437/4243 | chr8 | 109493734 | ||
| chr8:109497160
|
G | A | 1 | a0027 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.10487G>A | p.Ser3496Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/78 | 10607/19969 | 10487/12732 | 3496/4243 | chr8 | 109497160 | ||
| chr8:109498735
|
A | C | 1 | a0037 | 1 | HG01168.hp1 | missense_variant | MODERATE | c.10792A>C | p.Ser3598Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/78 | 10912/19969 | 10792/12732 | 3598/4243 | chr8 | 109498735 | ||
| chr8:109498756
|
C | T | 1 | a0028 | 1 | NA18944.hp1 | missense_variant | MODERATE | c.10813C>T | p.Leu3605Phe | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/78 | 10933/19969 | 10813/12732 | 3605/4243 | chr8 | 109498756 | ||
| chr8:109498764
|
C | A | 5 | a0006a0008a0010others(2): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
missense_variant | MODERATE | c.10821C>A | p.Asp3607Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/78 | 10941/19969 | 10821/12732 | 3607/4243 | chr8 | 109498764 | ||
| chr8:109515200
|
C | T | 7 | a0017a0019a0032others(4): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
missense_variant | MODERATE | c.11584C>T | p.Leu3862Phe | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/78 | 11704/19969 | 11584/12732 | 3862/4243 | chr8 | 109515200 | ||
| chr8:109518446
|
G | A | 1 | a0055 | 1 | HG00642.hp2 | missense_variant | MODERATE | c.11969G>A | p.Gly3990Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/78 | 12089/19969 | 11969/12732 | 3990/4243 | chr8 | 109518446 | ||
| chr8:109518451
|
A | G | 2 | a0016a0060 | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
missense_variant | MODERATE | c.11974A>G | p.Ile3992Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/78 | 12094/19969 | 11974/12732 | 3992/4243 | chr8 | 109518451 | ||
| chr8:109522760
|
T | G | 1 | a0047 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.12200T>G | p.Val4067Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/78 | 12320/19969 | 12200/12732 | 4067/4243 | chr8 | 109522760 | ||
| chr8:109526946
|
T | A | 1 | a0015 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
missense_variant | MODERATE | c.12647T>A | p.Ile4216Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/78 | 12767/19969 | 12647/12732 | 4216/4243 | chr8 | 109526946 | ||
| chr8:109526957
|
G | A | 28 | a0001a0012a0016others(25): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
missense_variant | MODERATE | c.12658G>A | p.Val4220Ile | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/78 | 12778/19969 | 12658/12732 | 4220/4243 | chr8 | 109526957 | ||
| chr8:109526972
|
C | G | 1 | a0042 | 1 | HG02155.hp1 | missense_variant | MODERATE | c.12673C>G | p.Leu4225Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/78 | 12793/19969 | 12673/12732 | 4225/4243 | chr8 | 109526972 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:109364632
|
G | A | 29 | a0003c0003a0005c0005a0008c0007others(26): Show | 70 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(67): Show |
synonymous_variant | LOW | c.159G>A | p.Gly53Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/78 | 279/19969 | 159/12732 | 53/4243 | chr8 | 109364632 | ||
| chr8:109382571
|
C | T | 1 | a0059c0046 | 1 | HG02630.hp2 | splice_region_variant&synonymous_variant | LOW | c.417C>T | p.Asn139Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/78 | 537/19969 | 417/12732 | 139/4243 | chr8 | 109382571 | ||
| chr8:109394448
|
T | A | 5 | a0005c0005a0005c0047a0012c0009others(2): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
synonymous_variant | LOW | c.774T>A | p.Ser258Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/78 | 894/19969 | 774/12732 | 258/4243 | chr8 | 109394448 | ||
| chr8:109394466
|
A | G | 3 | a0002c0081a0042c0082a0045c0080 | 3 | HG00423.hp2 HG02155.hp1 NA19081.hp2 |
synonymous_variant | LOW | c.792A>G | p.Ala264Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/78 | 912/19969 | 792/12732 | 264/4243 | chr8 | 109394466 | ||
| chr8:109396028
|
G | A | 1 | a0001c0049 | 1 | HG04204.hp1 | splice_region_variant&synonymous_variant | LOW | c.813G>A | p.Glu271Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/78 | 933/19969 | 813/12732 | 271/4243 | chr8 | 109396028 | ||
| chr8:109396118
|
C | T | 6 | a0008c0007a0010c0010a0015c0042others(3): Show | 14 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
synonymous_variant | LOW | c.903C>T | p.Pro301Pro | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/78 | 1023/19969 | 903/12732 | 301/4243 | chr8 | 109396118 | ||
| chr8:109400290
|
G | A | 54 | a0001c0001a0001c0020a0001c0049others(51): Show | 186 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
synonymous_variant | LOW | c.1227G>A | p.Lys409Lys | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/78 | 1347/19969 | 1227/12732 | 409/4243 | chr8 | 109400290 | ||
| chr8:109401577
|
G | A | 1 | a0015c0042 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.1362G>A | p.Gln454Gln | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/78 | 1482/19969 | 1362/12732 | 454/4243 | chr8 | 109401577 | ||
| chr8:109404584
|
C | T | 53 | a0001c0001a0001c0020a0001c0049others(50): Show | 185 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(182): Show |
synonymous_variant | LOW | c.1404C>T | p.Tyr468Tyr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 15/78 | 1524/19969 | 1404/12732 | 468/4243 | chr8 | 109404584 | ||
| chr8:109408155
|
T | C | 16 | a0001c0001a0001c0020a0001c0049others(13): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
synonymous_variant | LOW | c.1920T>C | p.Asn640Asn | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/78 | 2040/19969 | 1920/12732 | 640/4243 | chr8 | 109408155 | ||
| chr8:109408179
|
A | G | 1 | a0069c0028 | 1 | HG02896.hp2 | synonymous_variant | LOW | c.1944A>G | p.Pro648Pro | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/78 | 2064/19969 | 1944/12732 | 648/4243 | chr8 | 109408179 | ||
| chr8:109408200
|
A | G | 16 | a0001c0001a0001c0020a0001c0049others(13): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
synonymous_variant | LOW | c.1965A>G | p.Glu655Glu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/78 | 2085/19969 | 1965/12732 | 655/4243 | chr8 | 109408200 | ||
| chr8:109419136
|
A | G | 1 | a0001c0059 | 1 | HG01069.hp2 | synonymous_variant | LOW | c.2400A>G | p.Arg800Arg | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/78 | 2520/19969 | 2400/12732 | 800/4243 | chr8 | 109419136 | ||
| chr8:109425195
|
C | A | 1 | a0004c0050 | 1 | NA20805.hp2 | synonymous_variant | LOW | c.2808C>A | p.Gly936Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/78 | 2928/19969 | 2808/12732 | 936/4243 | chr8 | 109425195 | ||
| chr8:109436444
|
C | A | 1 | a0050c0043 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.3612C>A | p.Thr1204Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/78 | 3732/19969 | 3612/12732 | 1204/4243 | chr8 | 109436444 | ||
| chr8:109439042
|
A | G | 5 | a0008c0007a0010c0010a0056c0076others(2): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
synonymous_variant | LOW | c.3906A>G | p.Gly1302Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/78 | 4026/19969 | 3906/12732 | 1302/4243 | chr8 | 109439042 | ||
| chr8:109442038
|
A | T | 1 | a0047c0037 | 1 | HG02886.hp1 | synonymous_variant | LOW | c.4236A>T | p.Pro1412Pro | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/78 | 4356/19969 | 4236/12732 | 1412/4243 | chr8 | 109442038 | ||
| chr8:109448237
|
A | C | 1 | a0007c0072 | 1 | HG02896.hp1 | synonymous_variant | LOW | c.5871A>C | p.Val1957Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/78 | 5991/19969 | 5871/12732 | 1957/4243 | chr8 | 109448237 | ||
| chr8:109452825
|
C | A | 1 | a0057c0075 | 1 | HG02055.hp2 | synonymous_variant | LOW | c.6615C>A | p.Thr2205Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/78 | 6735/19969 | 6615/12732 | 2205/4243 | chr8 | 109452825 | ||
| chr8:109452831
|
G | C | 39 | a0001c0001a0001c0020a0001c0049others(36): Show | 147 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
synonymous_variant | LOW | c.6621G>C | p.Leu2207Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/78 | 6741/19969 | 6621/12732 | 2207/4243 | chr8 | 109452831 | ||
| chr8:109454171
|
G | T | 1 | a0001c0020 | 2 | NA19068.hp2 NA19084.hp2 |
synonymous_variant | LOW | c.6669G>T | p.Gly2223Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/78 | 6789/19969 | 6669/12732 | 2223/4243 | chr8 | 109454171 | ||
| chr8:109459676
|
A | C | 4 | a0008c0007a0010c0010a0056c0076others(1): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
synonymous_variant | LOW | c.7086A>C | p.Leu2362Leu | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/78 | 7206/19969 | 7086/12732 | 2362/4243 | chr8 | 109459676 | ||
| chr8:109464224
|
T | C | 4 | a0012c0009a0025c0030a0025c0031others(1): Show | 7 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(4): Show |
synonymous_variant | LOW | c.7392T>C | p.His2464His | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 7512/19969 | 7392/12732 | 2464/4243 | chr8 | 109464224 | ||
| chr8:109464650
|
T | A | 1 | a0015c0042 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.7818T>A | p.Val2606Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 7938/19969 | 7818/12732 | 2606/4243 | chr8 | 109464650 | ||
| chr8:109464659
|
C | T | 1 | a0025c0031 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.7827C>T | p.Gly2609Gly | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 7947/19969 | 7827/12732 | 2609/4243 | chr8 | 109464659 | ||
| chr8:109464764
|
A | G | 46 | a0001c0001a0001c0020a0001c0049others(43): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
synonymous_variant | LOW | c.7932A>G | p.Ala2644Ala | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/78 | 8052/19969 | 7932/12732 | 2644/4243 | chr8 | 109464764 | ||
| chr8:109477391
|
A | T | 43 | a0001c0001a0001c0020a0001c0049others(40): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
synonymous_variant | LOW | c.9084A>T | p.Thr3028Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/78 | 9204/19969 | 9084/12732 | 3028/4243 | chr8 | 109477391 | ||
| chr8:109479572
|
T | C | 2 | a0015c0027a0015c0042 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
synonymous_variant | LOW | c.9111T>C | p.Phe3037Phe | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/78 | 9231/19969 | 9111/12732 | 3037/4243 | chr8 | 109479572 | ||
| chr8:109486688
|
G | A | 2 | a0008c0007a0010c0010 | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
synonymous_variant | LOW | c.9747G>A | p.Thr3249Thr | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/78 | 9867/19969 | 9747/12732 | 3249/4243 | chr8 | 109486688 | ||
| chr8:109490977
|
A | G | 6 | a0012c0009a0020c0022a0022c0025others(3): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
synonymous_variant | LOW | c.9990A>G | p.Gln3330Gln | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/78 | 10110/19969 | 9990/12732 | 3330/4243 | chr8 | 109490977 | ||
| chr8:109493699
|
A | G | 1 | a0057c0075 | 1 | HG02055.hp2 | synonymous_variant | LOW | c.10275A>G | p.Val3425Val | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/78 | 10395/19969 | 10275/12732 | 3425/4243 | chr8 | 109493699 | ||
| chr8:109504424
|
T | C | 5 | a0006c0006a0008c0007a0010c0010others(2): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
synonymous_variant | LOW | c.10926T>C | p.His3642His | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/78 | 11046/19969 | 10926/12732 | 3642/4243 | chr8 | 109504424 | ||
| chr8:109522283
|
G | A | 33 | a0001c0001a0001c0020a0001c0049others(30): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
synonymous_variant | LOW | c.12129G>A | p.Ser4043Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 74/78 | 12249/19969 | 12129/12732 | 4043/4243 | chr8 | 109522283 | ||
| chr8:109522286
|
C | A | 1 | a0001c0053 | 1 | NA18984.hp2 | synonymous_variant | LOW | c.12132C>A | p.Ser4044Ser | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 74/78 | 12252/19969 | 12132/12732 | 4044/4243 | chr8 | 109522286 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:109530102
|
G | A | 1 | a0027c0029t0023 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*12G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 12 | chr8 | 109530102 | |||||
| chr8:109530108
|
T | C | 42 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(39): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
3_prime_UTR_variant | MODIFIER | c.*18T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 18 | chr8 | 109530108 | |||||
| chr8:109530114
|
G | GA | 42 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(39): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
3_prime_UTR_variant | MODIFIER | c.*27dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 28 | INFO_REALIGN_3_PRIME | chr8 | 109530114 | ||||
| chr8:109530278
|
C | G | 2 | a0056c0076t0022a0067c0041t0022 | 2 | HG02970.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*188C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 188 | chr8 | 109530278 | |||||
| chr8:109530435
|
A | T | 6 | a0006c0006t0009a0011c0011t0008a0011c0011t0045others(3): Show | 15 | HG01074.hp2 HG01884.hp1 HG01891.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*345A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 345 | chr8 | 109530435 | |||||
| chr8:109530472
|
AG | A | 42 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(39): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
3_prime_UTR_variant | MODIFIER | c.*391delG | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 391 | INFO_REALIGN_3_PRIME | chr8 | 109530472 | ||||
| chr8:109530480
|
G | GA | 5 | a0011c0011t0008a0011c0011t0045a0026c0016t0008others(2): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*390_*391insA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 391 | chr8 | 109530480 | |||||
| chr8:109530891
|
G | A | 2 | a0001c0001t0011a0001c0053t0011 | 5 | NA18955.hp1 NA18984.hp2 NA19062.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*801G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 801 | chr8 | 109530891 | |||||
| chr8:109530899
|
T | C | 1 | a0003c0015t0017 | 2 | HG02280.hp2 HG02886.hp2 |
3_prime_UTR_variant | MODIFIER | c.*809T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 809 | chr8 | 109530899 | |||||
| chr8:109530948
|
G | C | 1 | a0002c0002t0036 | 1 | NA19056.hp2 | 3_prime_UTR_variant | MODIFIER | c.*858G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 858 | chr8 | 109530948 | |||||
| chr8:109530992
|
A | T | 1 | a0057c0075t0035 | 1 | HG02055.hp2 | 3_prime_UTR_variant | MODIFIER | c.*902A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 902 | chr8 | 109530992 | |||||
| chr8:109531066
|
C | T | 1 | a0011c0011t0045 | 1 | HG02280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*976C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 976 | chr8 | 109531066 | |||||
| chr8:109531292
|
C | T | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*1202C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1202 | chr8 | 109531292 | |||||
| chr8:109531300
|
G | A | 3 | a0002c0002t0013a0021c0026t0013a0058c0074t0013 | 4 | HG00741.hp2 HG02145.hp1 HG04115.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1210G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1210 | chr8 | 109531300 | |||||
| chr8:109531320
|
T | C | 1 | a0019c0019t0025 | 1 | HG00733.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1230T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1230 | chr8 | 109531320 | |||||
| chr8:109531384
|
G | C | 1 | a0062c0062t0026 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1294G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1294 | chr8 | 109531384 | |||||
| chr8:109531443
|
G | T | 2 | a0016c0013t0012a0060c0044t0012 | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1353G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1353 | chr8 | 109531443 | |||||
| chr8:109531451
|
AAGACAGA others(7): Show |
A | 10 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(7): Show | 28 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*1371_*1384delGATA others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1371 | INFO_REALIGN_3_PRIME | chr8 | 109531451 | ||||
| chr8:109531503
|
T | G | 1 | a0027c0029t0023 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1413T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1413 | chr8 | 109531503 | |||||
| chr8:109531507
|
G | T | 1 | a0001c0001t0034 | 1 | NA19078.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1417G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1417 | chr8 | 109531507 | |||||
| chr8:109531521
|
A | T | 1 | a0002c0002t0021 | 2 | HG01167.hp1 HG01169.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1431A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1431 | chr8 | 109531521 | |||||
| chr8:109531744
|
C | T | 1 | a0002c0002t0043 | 1 | NA18955.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1654C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 1654 | chr8 | 109531744 | |||||
| chr8:109532238
|
CCA | C | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*2153_*2154delCA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2153 | INFO_REALIGN_3_PRIME | chr8 | 109532238 | ||||
| chr8:109532244
|
A | C | 2 | a0007c0008t0019a0007c0008t0020 | 4 | HG01243.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2154A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2154 | chr8 | 109532244 | |||||
| chr8:109532272
|
C | A | 1 | a0001c0001t0027 | 1 | NA18747.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2182C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2182 | chr8 | 109532272 | |||||
| chr8:109532295
|
G | T | 50 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(47): Show | 135 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(132): Show |
3_prime_UTR_variant | MODIFIER | c.*2205G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2205 | chr8 | 109532295 | |||||
| chr8:109532442
|
T | C | 1 | a0047c0037t0028 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2352T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2352 | chr8 | 109532442 | |||||
| chr8:109532687
|
G | C | 1 | a0018c0021t0038 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2597G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2597 | chr8 | 109532687 | |||||
| chr8:109532704
|
T | C | 4 | a0005c0005t0005a0005c0047t0005a0040c0067t0005others(1): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*2614T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2614 | chr8 | 109532704 | |||||
| chr8:109532824
|
T | C | 2 | a0015c0027t0016a0015c0042t0016 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2734T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2734 | chr8 | 109532824 | |||||
| chr8:109532848
|
T | C | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*2758T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2758 | chr8 | 109532848 | |||||
| chr8:109532853
|
A | C | 14 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(11): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*2763A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 2763 | chr8 | 109532853 | |||||
| chr8:109533116
|
CT | C | 2 | a0003c0003t0015a0052c0039t0015 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3028delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3028 | INFO_REALIGN_3_PRIME | chr8 | 109533116 | ||||
| chr8:109533281
|
A | G | 82 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(79): Show | 201 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(198): Show |
3_prime_UTR_variant | MODIFIER | c.*3191A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3191 | chr8 | 109533281 | |||||
| chr8:109533378
|
G | A | 36 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(33): Show | 103 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(100): Show |
3_prime_UTR_variant | MODIFIER | c.*3288G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3288 | chr8 | 109533378 | |||||
| chr8:109533508
|
A | G | 1 | a0055c0038t0031 | 1 | HG00642.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3418A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3418 | chr8 | 109533508 | |||||
| chr8:109533671
|
A | T | 86 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(83): Show | 205 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(202): Show |
3_prime_UTR_variant | MODIFIER | c.*3581A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3581 | chr8 | 109533671 | |||||
| chr8:109533786
|
C | CA | 15 | a0012c0009t0004a0017c0017t0004a0019c0019t0004others(12): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*3706dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3707 | INFO_REALIGN_3_PRIME | chr8 | 109533786 | ||||
| chr8:109533796
|
A | G | 10 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(7): Show | 28 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*3706A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3706 | chr8 | 109533796 | |||||
| chr8:109533971
|
C | T | 1 | a0006c0006t0009 | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3881C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3881 | chr8 | 109533971 | |||||
| chr8:109534005
|
C | T | 1 | a0062c0062t0026 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3915C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 3915 | chr8 | 109534005 | |||||
| chr8:109534124
|
G | A | 50 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(47): Show | 135 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(132): Show |
3_prime_UTR_variant | MODIFIER | c.*4034G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4034 | chr8 | 109534124 | |||||
| chr8:109534137
|
A | G | 1 | a0057c0075t0035 | 1 | HG02055.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4047A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4047 | chr8 | 109534137 | |||||
| chr8:109534153
|
G | A | 45 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(42): Show | 121 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(118): Show |
3_prime_UTR_variant | MODIFIER | c.*4063G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4063 | chr8 | 109534153 | |||||
| chr8:109534157
|
G | T | 1 | a0019c0019t0025 | 1 | HG00733.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4067G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4067 | chr8 | 109534157 | |||||
| chr8:109534188
|
C | T | 1 | a0047c0037t0028 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4098C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4098 | chr8 | 109534188 | |||||
| chr8:109534238
|
G | A | 1 | a0053c0077t0042 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4148G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4148 | chr8 | 109534238 | |||||
| chr8:109534449
|
C | T | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*4359C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4359 | chr8 | 109534449 | |||||
| chr8:109534479
|
A | G | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*4389A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4389 | chr8 | 109534479 | |||||
| chr8:109534667
|
C | T | 1 | a0027c0029t0023 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4577C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4577 | chr8 | 109534667 | |||||
| chr8:109534678
|
C | T | 2 | a0015c0027t0016a0015c0042t0016 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4588C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4588 | chr8 | 109534678 | |||||
| chr8:109534851
|
G | A | 15 | a0012c0009t0004a0017c0017t0004a0019c0019t0004others(12): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*4761G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4761 | chr8 | 109534851 | |||||
| chr8:109534872
|
G | C | 14 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(11): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*4782G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4782 | chr8 | 109534872 | |||||
| chr8:109534908
|
G | GT | 66 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(63): Show | 179 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(176): Show |
3_prime_UTR_variant | MODIFIER | c.*4828dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 4829 | INFO_REALIGN_3_PRIME | chr8 | 109534908 | ||||
| chr8:109535170
|
A | G | 80 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(77): Show | 197 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show |
3_prime_UTR_variant | MODIFIER | c.*5080A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5080 | chr8 | 109535170 | |||||
| chr8:109535218
|
C | G | 1 | a0004c0004t0041 | 1 | NA19007.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5128C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5128 | chr8 | 109535218 | |||||
| chr8:109535253
|
A | G | 14 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(11): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*5163A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5163 | chr8 | 109535253 | |||||
| chr8:109535280
|
T | G | 2 | a0002c0002t0018a0039c0071t0039 | 3 | HG03927.hp2 NA18997.hp2 NA19064.hp1 |
3_prime_UTR_variant | MODIFIER | c.*5190T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5190 | chr8 | 109535280 | |||||
| chr8:109535283
|
C | T | 43 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(40): Show | 119 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(116): Show |
3_prime_UTR_variant | MODIFIER | c.*5193C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5193 | chr8 | 109535283 | |||||
| chr8:109535289
|
A | T | 1 | a0039c0071t0039 | 1 | NA18997.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5199A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5199 | chr8 | 109535289 | |||||
| chr8:109535427
|
C | T | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*5337C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5337 | chr8 | 109535427 | |||||
| chr8:109535458
|
C | G | 1 | a0027c0029t0023 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5368C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5368 | chr8 | 109535458 | |||||
| chr8:109535458
|
C | T | 4 | a0001c0001t0007a0030c0055t0007a0036c0078t0007others(1): Show | 7 | HG01261.hp2 HG02258.hp2 HG02451.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*5368C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5368 | chr8 | 109535458 | |||||
| chr8:109535478
|
A | G | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*5388A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5388 | chr8 | 109535478 | |||||
| chr8:109535776
|
A | T | 4 | a0005c0005t0005a0005c0047t0005a0040c0067t0005others(1): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*5686A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5686 | chr8 | 109535776 | |||||
| chr8:109535785
|
A | G | 1 | a0048c0035t0033 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5695A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5695 | chr8 | 109535785 | |||||
| chr8:109535805
|
T | C | 12 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(9): Show | 38 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*5715T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5715 | chr8 | 109535805 | |||||
| chr8:109535970
|
CAAAGGGA others(4): Show |
C | 1 | a0002c0002t0014 | 4 | HG01109.hp2 HG01255.hp1 HG01993.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5882_*5892delAAGG others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5882 | INFO_REALIGN_3_PRIME | chr8 | 109535970 | ||||
| chr8:109535971
|
A | AT | 39 | a0002c0002t0001a0002c0002t0013a0002c0002t0018others(36): Show | 110 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(107): Show |
3_prime_UTR_variant | MODIFIER | c.*5881_*5882insT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5882 | chr8 | 109535971 | |||||
| chr8:109535983
|
G | T | 1 | a0002c0002t0014 | 4 | HG01109.hp2 HG01255.hp1 HG01993.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5893G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 5893 | chr8 | 109535983 | |||||
| chr8:109536183
|
T | C | 2 | a0003c0015t0017a0053c0077t0042 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6093T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6093 | chr8 | 109536183 | |||||
| chr8:109536185
|
C | T | 64 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(61): Show | 175 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
3_prime_UTR_variant | MODIFIER | c.*6095C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6095 | chr8 | 109536185 | |||||
| chr8:109536200
|
T | C | 1 | a0019c0019t0025 | 1 | HG00733.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6110T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6110 | chr8 | 109536200 | |||||
| chr8:109536219
|
G | A | 86 | a0002c0002t0001a0002c0002t0013a0002c0002t0014others(83): Show | 205 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(202): Show |
3_prime_UTR_variant | MODIFIER | c.*6129G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6129 | chr8 | 109536219 | |||||
| chr8:109536279
|
A | G | 1 | a0022c0025t0032 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6189A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6189 | chr8 | 109536279 | |||||
| chr8:109536385
|
T | C | 1 | a0047c0037t0028 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6295T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6295 | chr8 | 109536385 | |||||
| chr8:109536421
|
A | T | 1 | a0001c0001t0029 | 1 | NA19087.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6331A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6331 | chr8 | 109536421 | |||||
| chr8:109536422
|
T | G | 1 | a0001c0001t0010 | 6 | HG00735.hp1 HG01257.hp1 HG01934.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*6332T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6332 | chr8 | 109536422 | |||||
| chr8:109536426
|
C | G | 1 | a0055c0038t0031 | 1 | HG00642.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6336C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6336 | chr8 | 109536426 | |||||
| chr8:109536480
|
T | C | 1 | a0007c0008t0019 | 2 | HG01243.hp1 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6390T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6390 | chr8 | 109536480 | |||||
| chr8:109536730
|
A | C | 1 | a0027c0029t0023 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6640A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6640 | chr8 | 109536730 | |||||
| chr8:109536836
|
T | G | 14 | a0003c0003t0003a0003c0003t0015a0003c0015t0003others(11): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*6746T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6746 | chr8 | 109536836 | |||||
| chr8:109536967
|
T | A | 4 | a0005c0005t0005a0005c0047t0005a0040c0067t0005others(1): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*6877T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 6877 | chr8 | 109536967 | |||||
| chr8:109537100
|
T | C | 1 | a0003c0015t0017 | 2 | HG02280.hp2 HG02886.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7010T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 7010 | chr8 | 109537100 | |||||
| chr8:109537101
|
A | G | 2 | a0016c0013t0012a0060c0044t0012 | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*7011A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 78/78 | 7011 | chr8 | 109537101 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:109362894
|
A | T | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.73+241A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109362894 | ||||||
| chr8:109362977
|
G | A | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.73+324G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109362977 | ||||||
| chr8:109363127
|
G | A | 3 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008 | 3 | HG02055.hp1 HG03130.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.73+474G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363127 | ||||||
| chr8:109363149
|
G | A | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.73+496G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363149 | ||||||
| chr8:109363192
|
T | C | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.73+539T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363192 | ||||||
| chr8:109363297
|
G | T | 1 | a0004c0004t0001g0278 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.73+644G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363297 | ||||||
| chr8:109363408
|
C | A | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.73+755C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363408 | ||||||
| chr8:109363826
|
T | C | 1 | a0002c0002t0001g0025 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.74-721T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109363826 | ||||||
| chr8:109364008
|
C | T | 4 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276others(1): Show | 4 | HG02622.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-539C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109364008 | ||||||
| chr8:109364074
|
A | G | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.74-473A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109364074 | ||||||
| chr8:109364322
|
A | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.74-225A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109364322 | ||||||
| chr8:109364384
|
A | C | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.74-163A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109364384 | ||||||
| chr8:109364415
|
G | T | 67 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(64): Show | 69 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.74-132G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 1/77 | chr8 | 109364415 | ||||||
| chr8:109364646
|
C | CT | 29 | a0001c0001t0002g0270a0001c0001t0010g0269a0001c0059t0002g0271others(26): Show | 29 | HG00741.hp2 HG01069.hp2 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.163+28dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109364646 | |||||
| chr8:109364646
|
C | CTT | 21 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(18): Show | 23 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(20): Show |
intron_variant | MODIFIER | c.163+27_163+28dupTT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109364646 | |||||
| chr8:109364646
|
C | CTTT | 13 | a0003c0003t0003g0170a0003c0003t0003g0171a0003c0003t0003g0174others(10): Show | 13 | HG00639.hp1 HG00741.hp1 HG01123.hp2 others(10): Show |
intron_variant | MODIFIER | c.163+26_163+28dupTT others(1): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109364646 | |||||
| chr8:109364646
|
C | CTTTT | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+25_163+28dupTT others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109364646 | |||||
| chr8:109364646
|
CT | C | 11 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(8): Show | 11 | HG01074.hp2 HG01884.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+28delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109364646 | |||||
| chr8:109365109
|
G | C | 4 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(1): Show | 6 | HG00642.hp2 HG02683.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+473G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365109 | ||||||
| chr8:109365218
|
A | T | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.163+582A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365218 | ||||||
| chr8:109365492
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+856T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365492 | ||||||
| chr8:109365584
|
A | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+948A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365584 | ||||||
| chr8:109365701
|
C | T | 10 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(7): Show | 10 | HG01884.hp2 HG01891.hp1 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.163+1065C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365701 | ||||||
| chr8:109365779
|
T | C | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+1143T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365779 | ||||||
| chr8:109365947
|
C | G | 1 | a0002c0002t0001g0125 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.163+1311C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109365947 | ||||||
| chr8:109366238
|
A | G | 4 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276others(1): Show | 4 | HG02622.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.163+1602A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109366238 | ||||||
| chr8:109366283
|
A | C | 1 | a0069c0028t0001g0141 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.163+1647A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109366283 | ||||||
| chr8:109366565
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+1929T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109366565 | ||||||
| chr8:109366571
|
A | G | 1 | a0001c0001t0002g0268 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.163+1935A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109366571 | ||||||
| chr8:109366691
|
A | AT | 41 | a0002c0002t0001g0118a0002c0002t0001g0119a0002c0002t0013g0113others(38): Show | 41 | HG00408.hp1 HG00741.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.163+2073dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109366691 | |||||
| chr8:109366691
|
A | ATT | 36 | a0003c0003t0003g0001a0003c0003t0003g0155a0003c0003t0003g0161others(33): Show | 38 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(35): Show |
intron_variant | MODIFIER | c.163+2072_163+2073d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109366691 | |||||
| chr8:109366691
|
AT | A | 18 | a0001c0001t0002g0264a0001c0001t0002g0265a0002c0002t0001g0036others(15): Show | 18 | HG00639.hp2 HG01167.hp2 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.163+2073delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109366691 | |||||
| chr8:109366691
|
ATT | A | 90 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(87): Show | 91 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.163+2072_163+2073d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109366691 | |||||
| chr8:109366861
|
T | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+2225T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109366861 | ||||||
| chr8:109367386
|
G | A | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.163+2750G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109367386 | ||||||
| chr8:109367522
|
T | C | 1 | a0002c0002t0001g0041 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.163+2886T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109367522 | ||||||
| chr8:109367539
|
T | G | 1 | a0002c0002t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.163+2903T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109367539 | ||||||
| chr8:109367715
|
G | A | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.163+3079G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109367715 | ||||||
| chr8:109368170
|
T | C | 2 | a0053c0077t0042g0026a0057c0075t0035g0021 | 2 | HG02055.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.163+3534T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368170 | ||||||
| chr8:109368192
|
A | G | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.163+3556A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368192 | ||||||
| chr8:109368295
|
A | G | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.163+3659A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368295 | ||||||
| chr8:109368451
|
C | T | 95 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(92): Show | 96 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.163+3815C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368451 | ||||||
| chr8:109368452
|
T | C | 1 | a0028c0057t0001g0181 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.163+3816T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368452 | ||||||
| chr8:109368468
|
C | T | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.163+3832C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368468 | ||||||
| chr8:109368746
|
C | A | 1 | a0001c0001t0002g0182 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.163+4110C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368746 | ||||||
| chr8:109368823
|
T | G | 5 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.163+4187T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368823 | ||||||
| chr8:109368982
|
T | C | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.163+4346T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109368982 | ||||||
| chr8:109369042
|
C | T | 25 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(22): Show | 27 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
intron_variant | MODIFIER | c.163+4406C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369042 | ||||||
| chr8:109369216
|
TA | T | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.163+4582delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109369216 | |||||
| chr8:109369237
|
A | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.163+4601A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369237 | ||||||
| chr8:109369288
|
T | G | 1 | a0002c0002t0001g0043 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.163+4652T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369288 | ||||||
| chr8:109369472
|
T | A | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.163+4836T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369472 | ||||||
| chr8:109369493
|
T | C | 3 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276 | 3 | HG02622.hp2 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.163+4857T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369493 | ||||||
| chr8:109369554
|
T | A | 196 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(193): Show | 199 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(196): Show |
intron_variant | MODIFIER | c.163+4918T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369554 | ||||||
| chr8:109369621
|
G | A | 3 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276 | 3 | HG02622.hp2 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.163+4985G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369621 | ||||||
| chr8:109369624
|
A | AAT | 27 | a0002c0002t0001g0025a0002c0002t0001g0128a0002c0002t0013g0113others(24): Show | 27 | HG00741.hp2 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+5006_163+5007d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109369624 | |||||
| chr8:109369624
|
AAT | A | 95 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(92): Show | 96 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.163+5006_163+5007d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109369624 | |||||
| chr8:109369797
|
C | T | 1 | a0001c0001t0002g0263 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.163+5161C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369797 | ||||||
| chr8:109369982
|
C | G | 14 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(11): Show | 14 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.163+5346C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109369982 | ||||||
| chr8:109370087
|
G | A | 1 | a0003c0003t0003g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.163+5451G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370087 | ||||||
| chr8:109370282
|
T | C | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.163+5646T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370282 | ||||||
| chr8:109370443
|
T | C | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.163+5807T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370443 | ||||||
| chr8:109370555
|
C | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.163+5919C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370555 | ||||||
| chr8:109370556
|
G | A | 1 | a0011c0011t0045g0108 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.163+5920G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370556 | ||||||
| chr8:109370771
|
T | C | 1 | a0001c0001t0002g0183 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.163+6135T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370771 | ||||||
| chr8:109370775
|
C | T | 5 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0262others(2): Show | 5 | HG01261.hp2 HG02258.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.163+6139C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370775 | ||||||
| chr8:109370832
|
A | G | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.163+6196A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370832 | ||||||
| chr8:109370881
|
G | A | 1 | a0055c0038t0031g0154 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.163+6245G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370881 | ||||||
| chr8:109370899
|
A | G | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+6263A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370899 | ||||||
| chr8:109370975
|
G | A | 5 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(2): Show | 5 | HG02451.hp2 HG02886.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+6339G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370975 | ||||||
| chr8:109370982
|
T | A | 2 | a0002c0002t0013g0113a0022c0025t0032g0124 | 2 | HG02145.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.163+6346T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370982 | ||||||
| chr8:109370999
|
T | C | 1 | a0002c0002t0001g0045 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.163+6363T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109370999 | ||||||
| chr8:109371019
|
T | C | 14 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(11): Show | 14 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+6383T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371019 | ||||||
| chr8:109371087
|
C | T | 2 | a0012c0009t0004g0152a0069c0028t0001g0141 | 2 | HG02559.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.163+6451C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371087 | ||||||
| chr8:109371089
|
G | A | 15 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(12): Show | 15 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.163+6453G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371089 | ||||||
| chr8:109371140
|
T | C | 2 | a0015c0027t0016g0022a0015c0027t0016g0023 | 2 | HG02615.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.163+6504T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371140 | ||||||
| chr8:109371211
|
C | T | 3 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276 | 3 | HG02622.hp2 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.163+6575C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371211 | ||||||
| chr8:109371330
|
T | C | 7 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0048others(4): Show | 7 | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.163+6694T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371330 | ||||||
| chr8:109371332
|
C | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.163+6696C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371332 | ||||||
| chr8:109371443
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+6807A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371443 | ||||||
| chr8:109371518
|
A | G | 1 | a0001c0001t0002g0195 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.163+6882A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371518 | ||||||
| chr8:109371609
|
G | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.163+6973G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371609 | ||||||
| chr8:109371645
|
A | G | 3 | a0001c0001t0002g0256a0005c0047t0005g0258a0032c0056t0004g0257 | 3 | HG03041.hp2 HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.163+7009A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371645 | ||||||
| chr8:109371647
|
G | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.163+7011G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371647 | ||||||
| chr8:109371672
|
A | C | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.163+7036A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371672 | ||||||
| chr8:109371679
|
G | GT | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.163+7043_163+7044i others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371679 | ||||||
| chr8:109371684
|
G | C | 2 | a0020c0022t0004g0121a0020c0022t0004g0122 | 2 | HG01934.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.163+7048G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371684 | ||||||
| chr8:109371744
|
C | T | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.163+7108C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371744 | ||||||
| chr8:109371790
|
G | A | 1 | a0002c0002t0001g0049 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.163+7154G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371790 | ||||||
| chr8:109371838
|
T | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+7202T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371838 | ||||||
| chr8:109371843
|
C | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+7207C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371843 | ||||||
| chr8:109371935
|
T | C | 96 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(93): Show | 97 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.163+7299T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371935 | ||||||
| chr8:109371979
|
C | T | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+7343C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109371979 | ||||||
| chr8:109372013
|
C | T | 1 | a0002c0002t0001g0128 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.163+7377C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372013 | ||||||
| chr8:109372063
|
G | A | 1 | a0002c0002t0001g0119 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.163+7427G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372063 | ||||||
| chr8:109372079
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+7443A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372079 | ||||||
| chr8:109372081
|
A | G | 2 | a0064c0034t0003g0168a0070c0045t0003g0167 | 2 | HG03239.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.163+7445A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372081 | ||||||
| chr8:109372103
|
C | T | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.163+7467C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372103 | ||||||
| chr8:109372136
|
A | G | 2 | a0012c0009t0004g0152a0069c0028t0001g0141 | 2 | HG02559.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.163+7500A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372136 | ||||||
| chr8:109372179
|
T | C | 1 | a0002c0002t0001g0046 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.163+7543T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372179 | ||||||
| chr8:109372183
|
G | A | 32 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(29): Show | 34 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(31): Show |
intron_variant | MODIFIER | c.163+7547G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372183 | ||||||
| chr8:109372212
|
C | T | 1 | a0002c0002t0014g0103 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.163+7576C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372212 | ||||||
| chr8:109372343
|
C | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.163+7707C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372343 | ||||||
| chr8:109372379
|
G | A | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.163+7743G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372379 | ||||||
| chr8:109372708
|
A | G | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.163+8072A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372708 | ||||||
| chr8:109372899
|
T | C | 2 | a0003c0015t0003g0133a0067c0041t0022g0134 | 2 | HG02735.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.163+8263T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372899 | ||||||
| chr8:109372900
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+8264G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372900 | ||||||
| chr8:109372979
|
A | G | 184 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(181): Show | 187 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show |
intron_variant | MODIFIER | c.163+8343A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372979 | ||||||
| chr8:109372988
|
C | A | 1 | a0001c0001t0002g0264 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.163+8352C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372988 | ||||||
| chr8:109372988
|
C | T | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.163+8352C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372988 | ||||||
| chr8:109372989
|
A | G | 4 | a0001c0001t0002g0264a0017c0017t0004g0273a0017c0017t0004g0274others(1): Show | 4 | HG01109.hp1 HG02257.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+8353A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372989 | ||||||
| chr8:109372999
|
TCAGGATG others(6): Show |
T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+8364_164-8358d others(15): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109372999 | ||||||
| chr8:109373015
|
CTCATAAA others(2): Show |
C | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-8354_164-8346d others(11): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373015 | ||||||
| chr8:109373025
|
A | C | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-8345A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373025 | ||||||
| chr8:109373059
|
G | A | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.164-8311G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373059 | ||||||
| chr8:109373113
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-8257G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373113 | ||||||
| chr8:109373123
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.164-8247C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373123 | ||||||
| chr8:109373154
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-8216A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373154 | ||||||
| chr8:109373155
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-8215G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373155 | ||||||
| chr8:109373373
|
T | C | 2 | a0004c0004t0001g0196a0004c0004t0001g0197 | 2 | HG01074.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.164-7997T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373373 | ||||||
| chr8:109373419
|
C | T | 1 | a0001c0001t0010g0194 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.164-7951C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373419 | ||||||
| chr8:109373481
|
G | C | 1 | a0002c0002t0036g0050 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.164-7889G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373481 | ||||||
| chr8:109373483
|
G | GT | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.164-7881dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109373483 | |||||
| chr8:109373599
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-7771G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373599 | ||||||
| chr8:109373665
|
C | T | 1 | a0060c0044t0012g0020 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.164-7705C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373665 | ||||||
| chr8:109373731
|
C | T | 2 | a0053c0077t0042g0026a0057c0075t0035g0021 | 2 | HG02055.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.164-7639C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373731 | ||||||
| chr8:109373755
|
A | G | 95 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(92): Show | 96 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.164-7615A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109373755 | ||||||
| chr8:109374021
|
G | A | 59 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(56): Show | 61 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
intron_variant | MODIFIER | c.164-7349G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374021 | ||||||
| chr8:109374144
|
C | T | 184 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(181): Show | 187 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show |
intron_variant | MODIFIER | c.164-7226C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374144 | ||||||
| chr8:109374146
|
T | G | 1 | a0003c0003t0003g0155 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.164-7224T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374146 | ||||||
| chr8:109374156
|
C | A | 1 | a0003c0003t0003g0155 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.164-7214C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374156 | ||||||
| chr8:109374212
|
T | C | 1 | a0024c0023t0004g0123 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.164-7158T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374212 | ||||||
| chr8:109374220
|
T | C | 1 | a0002c0002t0001g0051 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.164-7150T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374220 | ||||||
| chr8:109374258
|
G | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-7112G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374258 | ||||||
| chr8:109374386
|
A | G | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.164-6984A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374386 | ||||||
| chr8:109374518
|
T | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.164-6852T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374518 | ||||||
| chr8:109374547
|
C | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.164-6823C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374547 | ||||||
| chr8:109374616
|
C | T | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-6754C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374616 | ||||||
| chr8:109374777
|
T | A | 3 | a0005c0005t0005g0279a0025c0030t0004g0275a0025c0031t0004g0276 | 3 | HG02622.hp2 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.164-6593T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374777 | ||||||
| chr8:109374794
|
A | C | 2 | a0004c0004t0001g0196a0004c0004t0001g0197 | 2 | HG01074.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.164-6576A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374794 | ||||||
| chr8:109374906
|
C | T | 21 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(18): Show | 21 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.164-6464C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374906 | ||||||
| chr8:109374921
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-6449G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109374921 | ||||||
| chr8:109375140
|
A | C | 1 | a0001c0001t0011g0254 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.164-6230A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375140 | ||||||
| chr8:109375267
|
A | G | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-6103A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375267 | ||||||
| chr8:109375399
|
C | T | 6 | a0002c0002t0013g0113a0021c0026t0013g0130a0021c0026t0013g0131others(3): Show | 6 | HG00741.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-5971C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375399 | ||||||
| chr8:109375400
|
G | A | 1 | a0007c0008t0020g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.164-5970G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375400 | ||||||
| chr8:109375440
|
G | C | 2 | a0001c0001t0002g0198a0019c0019t0004g0180 | 2 | HG01243.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.164-5930G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375440 | ||||||
| chr8:109375444
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.164-5926G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375444 | ||||||
| chr8:109375533
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-5837G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375533 | ||||||
| chr8:109375712
|
T | A | 1 | a0015c0042t0016g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.164-5658T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375712 | ||||||
| chr8:109375718
|
C | T | 1 | a0008c0007t0006g0019 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.164-5652C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375718 | ||||||
| chr8:109375797
|
C | T | 1 | a0001c0001t0007g0262 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.164-5573C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375797 | ||||||
| chr8:109375830
|
G | A | 1 | a0015c0042t0016g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.164-5540G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375830 | ||||||
| chr8:109375849
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-5521C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375849 | ||||||
| chr8:109375889
|
T | G | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.164-5481T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375889 | ||||||
| chr8:109375966
|
G | A | 2 | a0064c0034t0003g0168a0070c0045t0003g0167 | 2 | HG03239.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.164-5404G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109375966 | ||||||
| chr8:109376068
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-5302C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376068 | ||||||
| chr8:109376204
|
G | C | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.164-5166G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376204 | ||||||
| chr8:109376229
|
G | A | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-5141G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376229 | ||||||
| chr8:109376264
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-5106A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376264 | ||||||
| chr8:109376364
|
G | A | 6 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0202others(3): Show | 6 | HG02040.hp2 NA18966.hp2 NA19001.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-5006G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376364 | ||||||
| chr8:109376491
|
C | T | 1 | a0005c0005t0005g0151 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.164-4879C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376491 | ||||||
| chr8:109376605
|
G | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-4765G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376605 | ||||||
| chr8:109376632
|
G | A | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-4738G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376632 | ||||||
| chr8:109376921
|
T | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-4449T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376921 | ||||||
| chr8:109376944
|
G | A | 1 | a0023c0018t0003g0162 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.164-4426G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109376944 | ||||||
| chr8:109377072
|
C | A | 1 | a0031c0054t0003g0203 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.164-4298C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377072 | ||||||
| chr8:109377073
|
G | A | 53 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(50): Show | 55 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(52): Show |
intron_variant | MODIFIER | c.164-4297G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377073 | ||||||
| chr8:109377076
|
A | T | 1 | a0009c0012t0001g0102 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.164-4294A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377076 | ||||||
| chr8:109377112
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.164-4258T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377112 | ||||||
| chr8:109377182
|
G | A | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.164-4188G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377182 | ||||||
| chr8:109377250
|
TG | T | 32 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(29): Show | 34 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(31): Show |
intron_variant | MODIFIER | c.164-4119delG | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377250 | ||||||
| chr8:109377342
|
T | A | 1 | a0001c0001t0002g0204 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.164-4028T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377342 | ||||||
| chr8:109377404
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.164-3966C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377404 | ||||||
| chr8:109377514
|
C | T | 67 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(64): Show | 69 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.164-3856C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377514 | ||||||
| chr8:109377616
|
T | C | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-3754T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377616 | ||||||
| chr8:109377814
|
G | A | 2 | a0007c0072t0001g0053a0056c0076t0022g0106 | 2 | HG02896.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.164-3556G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377814 | ||||||
| chr8:109377975
|
T | C | 95 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(92): Show | 96 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.164-3395T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109377975 | ||||||
| chr8:109378010
|
C | T | 1 | a0064c0034t0003g0168 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.164-3360C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378010 | ||||||
| chr8:109378629
|
A | G | 2 | a0002c0002t0013g0113a0022c0025t0032g0124 | 2 | HG02145.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164-2741A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378629 | ||||||
| chr8:109378770
|
T | C | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-2600T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378770 | ||||||
| chr8:109378778
|
C | T | 6 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-2592C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378778 | ||||||
| chr8:109378851
|
G | A | 95 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(92): Show | 96 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.164-2519G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378851 | ||||||
| chr8:109378865
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-2505G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378865 | ||||||
| chr8:109378945
|
GAGATGGA others(6): Show |
G | 6 | a0001c0001t0010g0190a0001c0001t0010g0191a0001c0001t0010g0192others(3): Show | 6 | HG00735.hp1 HG01257.hp1 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-2417_164-2405d others(15): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109378945 | |||||
| chr8:109378977
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-2393G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109378977 | ||||||
| chr8:109379121
|
G | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.164-2249G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379121 | ||||||
| chr8:109379209
|
T | C | 1 | a0001c0001t0002g0205 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.164-2161T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379209 | ||||||
| chr8:109379322
|
C | A | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.164-2048C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379322 | ||||||
| chr8:109379634
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-1736C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379634 | ||||||
| chr8:109379691
|
C | T | 7 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(4): Show | 7 | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-1679C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379691 | ||||||
| chr8:109379900
|
C | T | 162 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(159): Show | 165 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.164-1470C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109379900 | ||||||
| chr8:109380089
|
T | C | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.164-1281T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380089 | ||||||
| chr8:109380177
|
CCTCTTGT others(40): Show |
C | 2 | a0001c0001t0002g0198a0019c0019t0004g0180 | 2 | HG01243.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.164-1173_164-1127d others(49): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109380177 | |||||
| chr8:109380202
|
A | ATCTCAGC others(40): Show |
1 | a0051c0060t0005g0035 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.164-1152_164-1106d others(49): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | 109380202 | |||||
| chr8:109380207
|
A | G | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.164-1163A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380207 | ||||||
| chr8:109380317
|
A | G | 31 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(28): Show | 33 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(30): Show |
intron_variant | MODIFIER | c.164-1053A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380317 | ||||||
| chr8:109380419
|
C | A | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.164-951C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380419 | ||||||
| chr8:109380511
|
A | C | 67 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(64): Show | 69 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.164-859A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380511 | ||||||
| chr8:109380748
|
T | A | 1 | a0001c0001t0002g0206 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.164-622T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380748 | ||||||
| chr8:109380750
|
C | T | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.164-620C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380750 | ||||||
| chr8:109380769
|
T | C | 2 | a0064c0034t0003g0168a0070c0045t0003g0167 | 2 | HG03239.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.164-601T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380769 | ||||||
| chr8:109380888
|
T | C | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.164-482T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380888 | ||||||
| chr8:109380913
|
T | C | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.164-457T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380913 | ||||||
| chr8:109380996
|
G | A | 2 | a0002c0002t0001g0037a0038c0066t0001g0054 | 2 | HG00323.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.164-374G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109380996 | ||||||
| chr8:109381008
|
C | A | 1 | a0003c0003t0003g0170 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.164-362C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109381008 | ||||||
| chr8:109381355
|
T | G | 1 | a0015c0027t0016g0022 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.164-15T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | 109381355 | ||||||
| chr8:109381709
|
A | G | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.308+195A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381709 | ||||||
| chr8:109381710
|
A | G | 1 | a0002c0002t0001g0025 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.308+196A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381710 | ||||||
| chr8:109381723
|
T | A | 1 | a0069c0028t0001g0141 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.308+209T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381723 | ||||||
| chr8:109381753
|
C | T | 16 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(13): Show | 16 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.308+239C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381753 | ||||||
| chr8:109381787
|
A | G | 1 | a0002c0002t0001g0101 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.308+273A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381787 | ||||||
| chr8:109381901
|
T | C | 1 | a0069c0028t0001g0141 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.308+387T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381901 | ||||||
| chr8:109381944
|
T | A | 1 | a0015c0042t0016g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.308+430T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109381944 | ||||||
| chr8:109382021
|
C | CAATTCTA others(6): Show |
1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.309-441_309-440ins others(13): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | INFO_REALIGN_3_PRIME | chr8 | 109382021 | |||||
| chr8:109382023
|
C | G | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.309-440C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382023 | ||||||
| chr8:109382025
|
T | A | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.309-438T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382025 | ||||||
| chr8:109382058
|
C | T | 4 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(1): Show | 4 | HG01261.hp2 HG02258.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.309-405C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382058 | ||||||
| chr8:109382122
|
A | G | 162 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(159): Show | 165 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.309-341A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382122 | ||||||
| chr8:109382127
|
G | T | 68 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(65): Show | 70 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(67): Show |
intron_variant | MODIFIER | c.309-336G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382127 | ||||||
| chr8:109382148
|
C | A | 1 | a0055c0038t0031g0154 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.309-315C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382148 | ||||||
| chr8:109382148
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.309-315C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382148 | ||||||
| chr8:109382202
|
CTTG | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.309-256_309-254del others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | INFO_REALIGN_3_PRIME | chr8 | 109382202 | |||||
| chr8:109382250
|
C | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.309-213C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382250 | ||||||
| chr8:109382355
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.309-108A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382355 | ||||||
| chr8:109382423
|
A | G | 1 | a0001c0020t0002g0253 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.309-40A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3/77 | chr8 | 109382423 | ||||||
| chr8:109382624
|
CT | C | 14 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(11): Show | 14 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.417+54delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382624 | ||||||
| chr8:109382642
|
C | T | 5 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0262others(2): Show | 5 | HG01261.hp2 HG02258.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.417+71C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382642 | ||||||
| chr8:109382659
|
A | G | 1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.417+88A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382659 | ||||||
| chr8:109382674
|
AAAAATAC others(367): Show |
A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+104_417+477del | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382674 | ||||||
| chr8:109382693
|
A | G | 1 | a0002c0002t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.417+122A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382693 | ||||||
| chr8:109382798
|
T | C | 161 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(158): Show | 164 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.417+227T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382798 | ||||||
| chr8:109382858
|
T | C | 7 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0048others(4): Show | 7 | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.417+287T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382858 | ||||||
| chr8:109382886
|
G | A | 49 | a0001c0001t0002g0002a0001c0001t0002g0183a0001c0001t0002g0199others(46): Show | 50 | HG00140.hp1 HG00544.hp2 HG01069.hp2 others(47): Show |
intron_variant | MODIFIER | c.417+315G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109382886 | ||||||
| chr8:109383063
|
A | T | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+492A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383063 | ||||||
| chr8:109383064
|
T | A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+493T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383064 | ||||||
| chr8:109383084
|
G | T | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+513G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383084 | ||||||
| chr8:109383085
|
T | A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+514T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383085 | ||||||
| chr8:109383091
|
T | A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+520T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383091 | ||||||
| chr8:109383094
|
A | T | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.417+523A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383094 | ||||||
| chr8:109383125
|
G | A | 2 | a0001c0001t0010g0193a0003c0015t0003g0133 | 2 | HG00735.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.417+554G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383125 | ||||||
| chr8:109383125
|
GT | G | 12 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.417+556delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383125 | |||||
| chr8:109383133
|
TATTATTG others(72): Show |
T | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.417+563_417+641del others(79): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383133 | ||||||
| chr8:109383147
|
T | A | 11 | a0001c0001t0002g0183a0001c0001t0002g0208a0001c0001t0002g0209others(8): Show | 11 | NA18951.hp1 NA18955.hp1 NA18984.hp2 others(8): Show |
intron_variant | MODIFIER | c.417+576T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383147 | ||||||
| chr8:109383157
|
T | TTA | 179 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(176): Show | 182 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(179): Show |
intron_variant | MODIFIER | c.417+593_417+594dup others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383157 | |||||
| chr8:109383178
|
ATATATAT others(3): Show |
A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.417+625_417+634del others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383178 | |||||
| chr8:109383206
|
TATATA | T | 10 | a0002c0002t0001g0025a0002c0002t0001g0045a0002c0002t0001g0099others(7): Show | 10 | NA18747.hp2 NA18949.hp2 NA18981.hp2 others(7): Show |
intron_variant | MODIFIER | c.417+643_417+647del others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383206 | |||||
| chr8:109383217
|
A | T | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.417+646A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383217 | ||||||
| chr8:109383218
|
T | A | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.417+647T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383218 | ||||||
| chr8:109383232
|
TA | T | 19 | a0004c0004t0001g0196a0004c0004t0001g0197a0004c0004t0001g0238others(16): Show | 19 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(16): Show |
intron_variant | MODIFIER | c.417+662delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383232 | ||||||
| chr8:109383258
|
T | TAATTATA others(38): Show |
1 | a0037c0065t0001g0096 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.417+695_417+739dup others(45): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383258 | |||||
| chr8:109383350
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.418-720T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383350 | ||||||
| chr8:109383351
|
A | T | 1 | a0054c0040t0003g0169 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.418-719A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383351 | ||||||
| chr8:109383402
|
C | T | 7 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(4): Show | 7 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.418-668C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383402 | ||||||
| chr8:109383403
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.418-667G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383403 | ||||||
| chr8:109383417
|
T | A | 7 | a0001c0001t0002g0268a0004c0004t0001g0196a0004c0004t0001g0197others(4): Show | 7 | HG01074.hp1 HG01081.hp2 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.418-653T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383417 | ||||||
| chr8:109383422
|
A | G | 5 | a0001c0001t0011g0212a0001c0001t0011g0213a0001c0001t0011g0215others(2): Show | 5 | NA18955.hp1 NA18984.hp2 NA19062.hp2 others(2): Show |
intron_variant | MODIFIER | c.418-648A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383422 | ||||||
| chr8:109383424
|
A | AATATATA others(21): Show |
1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.418-624_418-597dup others(28): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | 109383424 | |||||
| chr8:109383451
|
G | T | 2 | a0064c0034t0003g0168a0070c0045t0003g0167 | 2 | HG03239.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.418-619G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383451 | ||||||
| chr8:109383546
|
A | G | 1 | a0004c0004t0001g0266 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.418-524A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383546 | ||||||
| chr8:109383723
|
A | G | 1 | a0049c0036t0004g0159 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.418-347A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383723 | ||||||
| chr8:109383849
|
T | C | 278 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(275): Show | 281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.418-221T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | 109383849 | ||||||
| chr8:109384186
|
T | C | 1 | a0002c0002t0001g0051 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.475+59T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384186 | ||||||
| chr8:109384231
|
T | C | 2 | a0013c0024t0001g0097a0013c0024t0001g0120 | 2 | NA19080.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.475+104T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384231 | ||||||
| chr8:109384368
|
C | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.475+241C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384368 | ||||||
| chr8:109384402
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.475+275G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384402 | ||||||
| chr8:109384467
|
C | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.475+340C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384467 | ||||||
| chr8:109384645
|
C | T | 3 | a0005c0005t0005g0148a0005c0005t0005g0149a0005c0005t0005g0150 | 3 | HG02970.hp2 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.475+518C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384645 | ||||||
| chr8:109384788
|
T | C | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.475+661T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384788 | ||||||
| chr8:109384821
|
C | T | 12 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.475+694C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384821 | ||||||
| chr8:109384824
|
T | C | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.475+697T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109384824 | ||||||
| chr8:109385063
|
A | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.476-474A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385063 | ||||||
| chr8:109385171
|
C | T | 1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.476-366C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385171 | ||||||
| chr8:109385275
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.476-262A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385275 | ||||||
| chr8:109385278
|
G | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.476-259G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385278 | ||||||
| chr8:109385410
|
A | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.476-127A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385410 | ||||||
| chr8:109385509
|
T | C | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.476-28T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 5/77 | chr8 | 109385509 | ||||||
| chr8:109385746
|
T | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.569+116T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109385746 | ||||||
| chr8:109385767
|
T | C | 1 | a0001c0001t0002g0002 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.569+137T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109385767 | ||||||
| chr8:109386066
|
C | T | 1 | a0044c0070t0001g0094 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.569+436C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386066 | ||||||
| chr8:109386267
|
C | T | 14 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(11): Show | 14 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.569+637C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386267 | ||||||
| chr8:109386395
|
A | C | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.569+765A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386395 | ||||||
| chr8:109386471
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.569+841T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386471 | ||||||
| chr8:109386565
|
G | T | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.569+935G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386565 | ||||||
| chr8:109386643
|
TA | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.569+1017delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | INFO_REALIGN_3_PRIME | chr8 | 109386643 | |||||
| chr8:109386735
|
G | A | 1 | a0001c0001t0002g0216 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.569+1105G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386735 | ||||||
| chr8:109386902
|
T | C | 1 | a0023c0018t0003g0163 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.569+1272T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109386902 | ||||||
| chr8:109387024
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.569+1394G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387024 | ||||||
| chr8:109387025
|
G | C | 7 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(4): Show | 7 | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.569+1395G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387025 | ||||||
| chr8:109387041
|
G | A | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.569+1411G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387041 | ||||||
| chr8:109387095
|
A | C | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.570-1402A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387095 | ||||||
| chr8:109387101
|
T | G | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.570-1396T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387101 | ||||||
| chr8:109387136
|
G | A | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.570-1361G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387136 | ||||||
| chr8:109387148
|
G | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.570-1349G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387148 | ||||||
| chr8:109387235
|
T | C | 6 | a0004c0004t0001g0240a0004c0004t0001g0241a0004c0004t0001g0242others(3): Show | 6 | HG00408.hp2 HG00423.hp1 HG01952.hp2 others(3): Show |
intron_variant | MODIFIER | c.570-1262T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387235 | ||||||
| chr8:109387360
|
C | T | 3 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008 | 3 | HG02055.hp1 HG03130.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.570-1137C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387360 | ||||||
| chr8:109387449
|
C | T | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.570-1048C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387449 | ||||||
| chr8:109387450
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.570-1047G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387450 | ||||||
| chr8:109387496
|
G | C | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.570-1001G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387496 | ||||||
| chr8:109387585
|
G | A | 1 | a0001c0001t0010g0190 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.570-912G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109387585 | ||||||
| chr8:109388133
|
A | G | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.570-364A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109388133 | ||||||
| chr8:109388182
|
T | C | 16 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(13): Show | 16 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.570-315T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109388182 | ||||||
| chr8:109388366
|
A | G | 1 | a0002c0002t0001g0043 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.570-131A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109388366 | ||||||
| chr8:109388387
|
G | A | 1 | a0003c0003t0003g0171 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.570-110G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | chr8 | 109388387 | ||||||
| chr8:109388469
|
A | AT | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.570-22dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 6/77 | INFO_REALIGN_3_PRIME | chr8 | 109388469 | |||||
| chr8:109388588
|
A | G | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.623+38A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 7/77 | chr8 | 109388588 | ||||||
| chr8:109388686
|
G | A | 3 | a0048c0035t0033g0160a0049c0036t0004g0159a0067c0041t0022g0134 | 3 | HG02970.hp1 HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.623+136G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 7/77 | chr8 | 109388686 | ||||||
| chr8:109388696
|
T | C | 1 | a0001c0001t0002g0216 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.623+146T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 7/77 | chr8 | 109388696 | ||||||
| chr8:109388890
|
G | A | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.624-189G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 7/77 | chr8 | 109388890 | ||||||
| chr8:109389315
|
C | T | 1 | a0040c0067t0005g0115 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.697+163C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389315 | ||||||
| chr8:109389320
|
A | T | 2 | a0012c0009t0004g0146a0012c0009t0004g0147 | 2 | HG01884.hp2 HG01891.hp1 |
intron_variant | MODIFIER | c.697+168A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389320 | ||||||
| chr8:109389357
|
G | A | 68 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(65): Show | 70 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(67): Show |
intron_variant | MODIFIER | c.697+205G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389357 | ||||||
| chr8:109389407
|
C | G | 29 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(26): Show | 31 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(28): Show |
intron_variant | MODIFIER | c.697+255C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389407 | ||||||
| chr8:109389408
|
G | A | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.697+256G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389408 | ||||||
| chr8:109389499
|
A | AGT | 17 | a0002c0002t0001g0038a0002c0002t0001g0061a0002c0002t0001g0063others(14): Show | 17 | HG00408.hp1 HG00544.hp1 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.697+394_697+395dup others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
A | AGTGT | 10 | a0002c0002t0001g0037a0002c0002t0001g0057a0002c0002t0018g0059others(7): Show | 10 | HG00423.hp2 HG02040.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.697+392_697+395dup others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGT | A | 23 | a0002c0002t0001g0008a0002c0002t0001g0048a0002c0002t0001g0079others(20): Show | 23 | HG01106.hp1 HG01496.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.697+394_697+395del others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGT | A | 27 | a0001c0001t0002g0184a0002c0002t0001g0036a0002c0002t0001g0084others(24): Show | 27 | HG00099.hp1 HG00639.hp2 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.697+392_697+395del others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGT | A | 38 | a0001c0001t0002g0198a0001c0001t0002g0217a0001c0001t0002g0218others(35): Show | 38 | HG01074.hp1 HG01081.hp2 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.697+390_697+395del others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(1): Show |
A | 57 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(54): Show | 58 | HG00140.hp1 HG00544.hp2 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.697+388_697+395del others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(3): Show |
A | 13 | a0001c0001t0011g0215a0004c0004t0001g0238a0004c0004t0001g0239others(10): Show | 13 | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(10): Show |
intron_variant | MODIFIER | c.697+386_697+395del others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(5): Show |
A | 18 | a0001c0001t0002g0256a0001c0001t0007g0262a0001c0001t0010g0190others(15): Show | 18 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.697+384_697+395del others(12): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(7): Show |
A | 28 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0267others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.697+382_697+395del others(14): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(9): Show |
A | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272others(1): Show | 4 | HG01109.hp1 HG02055.hp2 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.697+380_697+395del others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(13): Show |
A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.697+376_697+395del others(20): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389499
|
AGTGTGTG others(17): Show |
A | 4 | a0004c0004t0001g0241a0004c0004t0001g0242a0004c0004t0041g0243others(1): Show | 4 | HG00408.hp2 HG00423.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.697+372_697+395del others(24): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | 109389499 | |||||
| chr8:109389588
|
C | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.697+436C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389588 | ||||||
| chr8:109389762
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.697+610G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389762 | ||||||
| chr8:109389817
|
C | T | 2 | a0022c0025t0004g0114a0053c0077t0042g0026 | 2 | HG02451.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.698-635C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389817 | ||||||
| chr8:109389945
|
T | C | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.698-507T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389945 | ||||||
| chr8:109389969
|
A | C | 1 | a0069c0028t0001g0141 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.698-483A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389969 | ||||||
| chr8:109389981
|
T | A | 2 | a0002c0002t0001g0037a0038c0066t0001g0054 | 2 | HG00323.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.698-471T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109389981 | ||||||
| chr8:109390026
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.698-426G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390026 | ||||||
| chr8:109390101
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.698-351C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390101 | ||||||
| chr8:109390168
|
G | A | 1 | a0071c0083t0001g0056 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.698-284G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390168 | ||||||
| chr8:109390182
|
A | T | 19 | a0004c0004t0001g0196a0004c0004t0001g0197a0004c0004t0001g0238others(16): Show | 19 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(16): Show |
intron_variant | MODIFIER | c.698-270A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390182 | ||||||
| chr8:109390202
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.698-250C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390202 | ||||||
| chr8:109390227
|
T | G | 189 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(186): Show | 192 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.698-225T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390227 | ||||||
| chr8:109390262
|
C | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.698-190C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390262 | ||||||
| chr8:109390349
|
A | T | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.698-103A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | chr8 | 109390349 | ||||||
| chr8:109390594
|
A | G | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.740+100A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109390594 | ||||||
| chr8:109390600
|
T | C | 6 | a0001c0001t0010g0190a0001c0001t0010g0191a0001c0001t0010g0192others(3): Show | 6 | HG00735.hp1 HG01257.hp1 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.740+106T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109390600 | ||||||
| chr8:109390797
|
A | G | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.740+303A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109390797 | ||||||
| chr8:109391010
|
T | A | 1 | a0009c0012t0001g0067 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.740+516T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391010 | ||||||
| chr8:109391267
|
T | A | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.740+773T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391267 | ||||||
| chr8:109391469
|
A | G | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.740+975A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391469 | ||||||
| chr8:109391491
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.740+997T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391491 | ||||||
| chr8:109391528
|
A | G | 2 | a0022c0025t0004g0114a0040c0067t0005g0115 | 2 | HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.740+1034A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391528 | ||||||
| chr8:109391739
|
C | T | 1 | a0051c0060t0005g0035 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.740+1245C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391739 | ||||||
| chr8:109391775
|
A | G | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.740+1281A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109391775 | ||||||
| chr8:109392104
|
G | A | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.740+1610G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109392104 | ||||||
| chr8:109392347
|
C | T | 1 | a0016c0013t0012g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.740+1853C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109392347 | ||||||
| chr8:109392472
|
G | A | 1 | a0001c0001t0029g0207 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.741-1943G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109392472 | ||||||
| chr8:109392784
|
G | A | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.741-1631G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109392784 | ||||||
| chr8:109392837
|
T | C | 1 | a0044c0070t0001g0094 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.741-1578T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109392837 | ||||||
| chr8:109393136
|
G | A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.741-1279G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393136 | ||||||
| chr8:109393170
|
T | C | 184 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(181): Show | 187 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show |
intron_variant | MODIFIER | c.741-1245T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393170 | ||||||
| chr8:109393237
|
A | G | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.741-1178A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393237 | ||||||
| chr8:109393322
|
G | A | 184 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(181): Show | 187 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show |
intron_variant | MODIFIER | c.741-1093G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393322 | ||||||
| chr8:109393424
|
A | C | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.741-991A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393424 | ||||||
| chr8:109393529
|
C | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.741-886C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393529 | ||||||
| chr8:109393556
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.741-859T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393556 | ||||||
| chr8:109393899
|
G | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.741-516G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393899 | ||||||
| chr8:109393903
|
G | T | 1 | a0002c0002t0001g0046 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.741-512G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393903 | ||||||
| chr8:109393933
|
T | A | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.741-482T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393933 | ||||||
| chr8:109393949
|
G | A | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.741-466G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109393949 | ||||||
| chr8:109394080
|
C | T | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.741-335C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394080 | ||||||
| chr8:109394093
|
G | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.741-322G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394093 | ||||||
| chr8:109394109
|
G | A | 1 | a0002c0002t0001g0057 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.741-306G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394109 | ||||||
| chr8:109394160
|
G | A | 1 | a0002c0002t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.741-255G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394160 | ||||||
| chr8:109394170
|
C | CA | 31 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0037others(28): Show | 31 | HG00423.hp2 HG01099.hp1 HG01243.hp1 others(28): Show |
intron_variant | MODIFIER | c.741-218dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394170
|
C | CAA | 6 | a0002c0002t0001g0038a0002c0002t0001g0057a0005c0005t0005g0144others(3): Show | 6 | HG03041.hp2 HG03139.hp1 NA19003.hp2 others(3): Show |
intron_variant | MODIFIER | c.741-219_741-218dup others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394170
|
CA | C | 44 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(41): Show | 44 | HG00735.hp1 HG01081.hp1 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.741-218delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394170
|
CAA | C | 82 | a0001c0001t0002g0002a0001c0001t0002g0183a0001c0001t0002g0198others(79): Show | 83 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(80): Show |
intron_variant | MODIFIER | c.741-219_741-218del others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394170
|
CAAA | C | 13 | a0001c0001t0002g0210a0001c0001t0002g0211a0001c0001t0002g0237others(10): Show | 13 | HG00544.hp2 HG01891.hp2 HG01934.hp1 others(10): Show |
intron_variant | MODIFIER | c.741-220_741-218del others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394170
|
CAAAAAAA others(3): Show |
C | 6 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.741-227_741-218del others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394170 | |||||
| chr8:109394193
|
A | G | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.741-222A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394193 | ||||||
| chr8:109394194
|
A | G | 92 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(89): Show | 93 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.741-221A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394194 | ||||||
| chr8:109394197
|
A | AG | 6 | a0003c0003t0003g0161a0003c0003t0015g0003a0014c0014t0003g0172others(3): Show | 6 | HG01169.hp2 HG01192.hp2 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.741-217dupG | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | INFO_REALIGN_3_PRIME | chr8 | 109394197 | |||||
| chr8:109394197
|
A | G | 26 | a0001c0001t0002g0265a0003c0003t0003g0001a0003c0003t0003g0153others(23): Show | 28 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(25): Show |
intron_variant | MODIFIER | c.741-218A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394197 | ||||||
| chr8:109394198
|
G | A | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.741-217G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394198 | ||||||
| chr8:109394258
|
C | T | 1 | a0002c0002t0001g0078 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.741-157C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394258 | ||||||
| chr8:109394312
|
G | A | 2 | a0012c0009t0004g0152a0069c0028t0001g0141 | 2 | HG02559.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.741-103G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 9/77 | chr8 | 109394312 | ||||||
| chr8:109394618
|
T | C | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.811+133T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394618 | ||||||
| chr8:109394769
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.811+284A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394769 | ||||||
| chr8:109394840
|
G | A | 1 | a0003c0003t0003g0174 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.811+355G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394840 | ||||||
| chr8:109394857
|
T | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.811+372T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394857 | ||||||
| chr8:109394868
|
A | G | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.811+383A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394868 | ||||||
| chr8:109394948
|
A | G | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0058c0074t0013g0024 | 3 | HG02615.hp1 HG02818.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.811+463A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109394948 | ||||||
| chr8:109395026
|
G | T | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.811+541G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395026 | ||||||
| chr8:109395152
|
A | G | 163 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(160): Show | 166 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.811+667A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395152 | ||||||
| chr8:109395332
|
G | A | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.812-695G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395332 | ||||||
| chr8:109395342
|
C | T | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.812-685C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395342 | ||||||
| chr8:109395373
|
C | T | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.812-654C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395373 | ||||||
| chr8:109395377
|
T | C | 1 | a0066c0079t0001g0098 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.812-650T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395377 | ||||||
| chr8:109395677
|
G | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.812-350G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 10/77 | chr8 | 109395677 | ||||||
| chr8:109396210
|
T | C | 7 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(4): Show | 7 | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.922+73T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396210 | ||||||
| chr8:109396298
|
C | T | 19 | a0004c0004t0001g0196a0004c0004t0001g0197a0004c0004t0001g0238others(16): Show | 19 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(16): Show |
intron_variant | MODIFIER | c.922+161C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396298 | ||||||
| chr8:109396322
|
A | C | 1 | a0017c0017t0004g0274 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.922+185A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396322 | ||||||
| chr8:109396543
|
C | T | 31 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(28): Show | 33 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(30): Show |
intron_variant | MODIFIER | c.922+406C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396543 | ||||||
| chr8:109396656
|
G | A | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.922+519G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396656 | ||||||
| chr8:109396756
|
A | G | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.922+619A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396756 | ||||||
| chr8:109396816
|
C | T | 1 | a0001c0001t0002g0206 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.922+679C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396816 | ||||||
| chr8:109396835
|
G | A | 6 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0202others(3): Show | 6 | HG02040.hp2 NA18966.hp2 NA19001.hp1 others(3): Show |
intron_variant | MODIFIER | c.922+698G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396835 | ||||||
| chr8:109396962
|
T | C | 1 | a0001c0001t0002g0222 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.922+825T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109396962 | ||||||
| chr8:109397276
|
T | A | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.922+1139T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397276 | ||||||
| chr8:109397339
|
C | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.923-1120C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397339 | ||||||
| chr8:109397342
|
T | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.923-1117T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397342 | ||||||
| chr8:109397383
|
A | G | 202 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(199): Show | 205 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
intron_variant | MODIFIER | c.923-1076A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397383 | ||||||
| chr8:109397388
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.923-1071G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397388 | ||||||
| chr8:109397477
|
A | G | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.923-982A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397477 | ||||||
| chr8:109397496
|
A | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.923-963A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397496 | ||||||
| chr8:109397511
|
C | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.923-948C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397511 | ||||||
| chr8:109397521
|
A | C | 1 | a0048c0035t0033g0160 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.923-938A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397521 | ||||||
| chr8:109397532
|
GA | G | 25 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(22): Show | 27 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
intron_variant | MODIFIER | c.923-918delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | INFO_REALIGN_3_PRIME | chr8 | 109397532 | |||||
| chr8:109397587
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.923-872G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397587 | ||||||
| chr8:109397860
|
G | A | 5 | a0007c0008t0001g0090a0007c0008t0019g0089a0007c0008t0019g0091others(2): Show | 5 | HG01243.hp1 HG02895.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.923-599G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397860 | ||||||
| chr8:109397874
|
A | T | 3 | a0001c0001t0002g0200a0001c0001t0024g0201a0006c0006t0009g0028 | 3 | HG03098.hp1 NA19001.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.923-585A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109397874 | ||||||
| chr8:109398026
|
T | C | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.923-433T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109398026 | ||||||
| chr8:109398147
|
G | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.923-312G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109398147 | ||||||
| chr8:109398172
|
C | T | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.923-287C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 11/77 | chr8 | 109398172 | ||||||
| chr8:109398558
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1012+10C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109398558 | ||||||
| chr8:109398646
|
A | G | 3 | a0002c0002t0001g0038a0002c0002t0001g0057a0002c0002t0001g0079 | 3 | NA18612.hp1 NA19003.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.1012+98A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109398646 | ||||||
| chr8:109398659
|
A | G | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1012+111A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109398659 | ||||||
| chr8:109398841
|
G | T | 2 | a0005c0005t0005g0144a0005c0005t0005g0145 | 2 | HG03540.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1012+293G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109398841 | ||||||
| chr8:109398904
|
A | T | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1012+356A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109398904 | ||||||
| chr8:109399001
|
A | G | 1 | a0001c0001t0002g0221 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.1012+453A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399001 | ||||||
| chr8:109399099
|
G | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.1012+551G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399099 | ||||||
| chr8:109399109
|
T | C | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1012+561T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399109 | ||||||
| chr8:109399398
|
A | G | 6 | a0002c0002t0013g0113a0021c0026t0013g0130a0021c0026t0013g0131others(3): Show | 6 | HG00741.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1013-678A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399398 | ||||||
| chr8:109399513
|
C | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0051c0060t0005g0035 | 3 | HG02280.hp2 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1013-563C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399513 | ||||||
| chr8:109399572
|
T | A | 8 | a0001c0001t0002g0225a0001c0001t0002g0226a0001c0001t0002g0227others(5): Show | 8 | HG00741.hp1 HG02735.hp2 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.1013-504T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399572 | ||||||
| chr8:109399637
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1013-439T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399637 | ||||||
| chr8:109399766
|
C | T | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.1013-310C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399766 | ||||||
| chr8:109399998
|
C | A | 2 | a0012c0009t0004g0152a0069c0028t0001g0141 | 2 | HG02559.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.1013-78C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 12/77 | chr8 | 109399998 | ||||||
| chr8:109400584
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1281+240T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109400584 | ||||||
| chr8:109400599
|
ATCTC | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1281+259_1281+262d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | INFO_REALIGN_3_PRIME | chr8 | 109400599 | |||||
| chr8:109400704
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1281+360G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109400704 | ||||||
| chr8:109400719
|
C | T | 162 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(159): Show | 165 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1281+375C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109400719 | ||||||
| chr8:109400749
|
G | A | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.1281+405G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109400749 | ||||||
| chr8:109400820
|
A | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1281+476A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109400820 | ||||||
| chr8:109400964
|
GT | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1282-530delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | INFO_REALIGN_3_PRIME | chr8 | 109400964 | |||||
| chr8:109401160
|
G | T | 1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1282-337G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109401160 | ||||||
| chr8:109401201
|
A | G | 1 | a0044c0070t0001g0094 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1282-296A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109401201 | ||||||
| chr8:109401251
|
G | A | 1 | a0001c0001t0002g0218 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1282-246G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109401251 | ||||||
| chr8:109401293
|
G | A | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1282-204G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109401293 | ||||||
| chr8:109401320
|
TA | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1282-169delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | INFO_REALIGN_3_PRIME | chr8 | 109401320 | |||||
| chr8:109401329
|
T | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1282-168T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 13/77 | chr8 | 109401329 | ||||||
| chr8:109401595
|
C | T | 188 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(185): Show | 191 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(188): Show |
splice_region_variant&intron_variant | LOW | c.1373+7C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109401595 | ||||||
| chr8:109401633
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1373+45G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109401633 | ||||||
| chr8:109401752
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1373+164A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109401752 | ||||||
| chr8:109401774
|
A | T | 1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1373+186A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109401774 | ||||||
| chr8:109401975
|
T | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.1373+387T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109401975 | ||||||
| chr8:109402135
|
C | T | 1 | a0002c0002t0001g0101 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1373+547C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402135 | ||||||
| chr8:109402173
|
A | C | 2 | a0001c0001t0002g0200a0001c0001t0024g0201 | 2 | NA19001.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1373+585A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402173 | ||||||
| chr8:109402340
|
G | C | 1 | a0001c0001t0007g0261 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1373+752G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402340 | ||||||
| chr8:109402347
|
G | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1373+759G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402347 | ||||||
| chr8:109402433
|
A | G | 10 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(7): Show | 10 | HG01074.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.1373+845A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402433 | ||||||
| chr8:109402453
|
T | C | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1373+865T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402453 | ||||||
| chr8:109402494
|
C | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1373+906C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402494 | ||||||
| chr8:109402526
|
C | T | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1373+938C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402526 | ||||||
| chr8:109402586
|
G | C | 1 | a0058c0074t0013g0024 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1373+998G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402586 | ||||||
| chr8:109402640
|
C | A | 4 | a0002c0002t0001g0068a0002c0002t0001g0084a0002c0002t0001g0085others(1): Show | 4 | HG00099.hp1 HG00733.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.1373+1052C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402640 | ||||||
| chr8:109402794
|
T | G | 1 | a0001c0001t0002g0221 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.1373+1206T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402794 | ||||||
| chr8:109402930
|
A | G | 1 | a0001c0001t0002g0268 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1373+1342A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109402930 | ||||||
| chr8:109403014
|
C | A | 1 | a0028c0057t0001g0181 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1373+1426C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403014 | ||||||
| chr8:109403135
|
C | T | 6 | a0002c0002t0013g0113a0021c0026t0013g0130a0021c0026t0013g0131others(3): Show | 6 | HG00741.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1374-1419C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403135 | ||||||
| chr8:109403138
|
G | T | 7 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(4): Show | 7 | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1374-1416G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403138 | ||||||
| chr8:109403163
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1374-1391C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403163 | ||||||
| chr8:109403339
|
C | G | 1 | a0001c0001t0007g0261 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1374-1215C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403339 | ||||||
| chr8:109403569
|
G | A | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.1374-985G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403569 | ||||||
| chr8:109403635
|
G | C | 1 | a0002c0002t0001g0126 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1374-919G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403635 | ||||||
| chr8:109403728
|
T | C | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.1374-826T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109403728 | ||||||
| chr8:109404218
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1374-336T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109404218 | ||||||
| chr8:109404258
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1374-296A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109404258 | ||||||
| chr8:109404387
|
A | T | 1 | a0004c0004t0001g0266 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1374-167A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109404387 | ||||||
| chr8:109404473
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1374-81A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109404473 | ||||||
| chr8:109404525
|
T | C | 1 | a0012c0009t0004g0146 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1374-29T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 14/77 | chr8 | 109404525 | ||||||
| chr8:109405215
|
G | A | 1 | a0032c0056t0004g0257 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1669+85G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405215 | ||||||
| chr8:109405220
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1669+90G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405220 | ||||||
| chr8:109405280
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1669+150G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405280 | ||||||
| chr8:109405461
|
T | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1669+331T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405461 | ||||||
| chr8:109405706
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1669+576G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405706 | ||||||
| chr8:109405757
|
A | G | 10 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(7): Show | 10 | HG01074.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.1670-578A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405757 | ||||||
| chr8:109405909
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1670-426G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405909 | ||||||
| chr8:109405942
|
A | G | 2 | a0020c0022t0004g0121a0020c0022t0004g0122 | 2 | HG01934.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1670-393A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109405942 | ||||||
| chr8:109406128
|
C | T | 39 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(36): Show | 41 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(38): Show |
intron_variant | MODIFIER | c.1670-207C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109406128 | ||||||
| chr8:109406157
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1670-178G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109406157 | ||||||
| chr8:109406232
|
G | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1670-103G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 16/77 | chr8 | 109406232 | ||||||
| chr8:109406510
|
G | C | 1 | a0002c0002t0001g0051 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.1813+32G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406510 | ||||||
| chr8:109406603
|
G | T | 6 | a0001c0001t0010g0190a0001c0001t0010g0191a0001c0001t0010g0192others(3): Show | 6 | HG00735.hp1 HG01257.hp1 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.1813+125G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406603 | ||||||
| chr8:109406693
|
G | A | 171 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(168): Show | 174 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.1813+215G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406693 | ||||||
| chr8:109406882
|
A | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1813+404A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406882 | ||||||
| chr8:109406891
|
A | G | 1 | a0003c0003t0003g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1813+413A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406891 | ||||||
| chr8:109406892
|
T | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1813+414T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109406892 | ||||||
| chr8:109406928
|
TA | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(103): Show |
intron_variant | MODIFIER | c.1813+460delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | INFO_REALIGN_3_PRIME | chr8 | 109406928 | |||||
| chr8:109407133
|
T | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1813+655T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407133 | ||||||
| chr8:109407279
|
C | T | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1814-770C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407279 | ||||||
| chr8:109407330
|
A | G | 1 | a0001c0001t0007g0262 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1814-719A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407330 | ||||||
| chr8:109407517
|
A | G | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1814-532A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407517 | ||||||
| chr8:109407537
|
C | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1814-512C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407537 | ||||||
| chr8:109407584
|
C | T | 1 | a0003c0003t0003g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1814-465C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407584 | ||||||
| chr8:109407586
|
T | A | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1814-463T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407586 | ||||||
| chr8:109407609
|
C | G | 21 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(18): Show | 21 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.1814-440C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407609 | ||||||
| chr8:109407720
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1814-329G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407720 | ||||||
| chr8:109407758
|
C | A | 1 | a0002c0002t0001g0057 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1814-291C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407758 | ||||||
| chr8:109407814
|
G | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.1814-235G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407814 | ||||||
| chr8:109407842
|
C | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.1814-207C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407842 | ||||||
| chr8:109407920
|
A | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1814-129A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407920 | ||||||
| chr8:109407929
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1814-120C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109407929 | ||||||
| chr8:109408016
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1814-33T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 17/77 | chr8 | 109408016 | ||||||
| chr8:109408247
|
C | A | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1971+41C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408247 | ||||||
| chr8:109408427
|
C | G | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1971+221C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408427 | ||||||
| chr8:109408591
|
G | T | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.1971+385G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408591 | ||||||
| chr8:109408784
|
C | T | 1 | a0006c0006t0009g0033 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1971+578C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408784 | ||||||
| chr8:109408802
|
T | C | 1 | a0001c0001t0011g0212 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1971+596T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408802 | ||||||
| chr8:109408827
|
A | G | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1971+621A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408827 | ||||||
| chr8:109408884
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1971+678C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408884 | ||||||
| chr8:109408954
|
C | T | 1 | a0002c0002t0001g0038 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1971+748C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408954 | ||||||
| chr8:109408977
|
T | C | 1 | a0004c0004t0001g0241 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1971+771T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109408977 | ||||||
| chr8:109409063
|
G | T | 1 | a0006c0006t0009g0033 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1972-802G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109409063 | ||||||
| chr8:109409256
|
T | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1972-609T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109409256 | ||||||
| chr8:109409307
|
G | A | 1 | a0001c0001t0011g0254 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1972-558G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109409307 | ||||||
| chr8:109409353
|
G | A | 1 | a0002c0002t0001g0036 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1972-512G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109409353 | ||||||
| chr8:109409451
|
GTTGGCCA others(7): Show |
G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1972-408_1972-395d others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | INFO_REALIGN_3_PRIME | chr8 | 109409451 | |||||
| chr8:109409564
|
G | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1972-301G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 18/77 | chr8 | 109409564 | ||||||
| chr8:109409989
|
T | C | 3 | a0005c0005t0005g0148a0005c0005t0005g0149a0005c0005t0005g0150 | 3 | HG02970.hp2 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2085+11T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109409989 | ||||||
| chr8:109410121
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2085+143G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410121 | ||||||
| chr8:109410124
|
G | T | 2 | a0004c0004t0001g0244a0004c0004t0001g0251 | 2 | HG01175.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.2085+146G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410124 | ||||||
| chr8:109410158
|
G | T | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2085+180G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410158 | ||||||
| chr8:109410181
|
A | G | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2085+203A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410181 | ||||||
| chr8:109410281
|
G | A | 4 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2085+303G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410281 | ||||||
| chr8:109410333
|
A | C | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.2085+355A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410333 | ||||||
| chr8:109410488
|
G | A | 40 | a0002c0002t0001g0036a0003c0003t0003g0001a0003c0003t0003g0153others(37): Show | 42 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(39): Show |
intron_variant | MODIFIER | c.2085+510G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410488 | ||||||
| chr8:109410553
|
G | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2085+575G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410553 | ||||||
| chr8:109410578
|
G | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2085+600G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410578 | ||||||
| chr8:109410712
|
T | G | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2085+734T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410712 | ||||||
| chr8:109410720
|
C | CTTTTCTT others(29): Show |
1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(29): Show |
1 | a0001c0001t0029g0207 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(27): Show |
1 | a0001c0001t0002g0229 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2085+746_2085+747i others(36): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(28): Show |
1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(37): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(29): Show |
3 | a0001c0001t0011g0213a0004c0004t0001g0240a0018c0021t0038g0245 | 3 | HG01952.hp2 HG02735.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2085+746_2085+747i others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(28): Show |
28 | a0001c0001t0002g0002a0001c0001t0002g0184a0001c0001t0002g0185others(25): Show | 29 | HG01069.hp2 HG01081.hp1 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.2085+746_2085+747i others(37): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(30): Show |
1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(39): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(29): Show |
32 | a0001c0001t0002g0182a0001c0001t0002g0183a0001c0001t0002g0188others(29): Show | 32 | HG00140.hp1 HG00544.hp2 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.2085+746_2085+747i others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(30): Show |
9 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0010g0269others(6): Show | 9 | HG00408.hp2 HG01074.hp1 HG01123.hp1 others(6): Show |
intron_variant | MODIFIER | c.2085+746_2085+747i others(39): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(31): Show |
6 | a0001c0001t0002g0218a0004c0004t0001g0241a0004c0004t0001g0244others(3): Show | 6 | HG00280.hp1 HG00423.hp1 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.2085+746_2085+747i others(40): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(29): Show |
1 | a0001c0001t0002g0217 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(30): Show |
1 | a0001c0001t0002g0211 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2085+746_2085+747i others(39): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410720
|
C | CTTTTCTT others(31): Show |
1 | a0004c0004t0041g0243 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2085+746_2085+747i others(40): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410720 | |||||
| chr8:109410726
|
C | CT | 13 | a0002c0002t0001g0007a0002c0002t0001g0038a0002c0002t0001g0043others(10): Show | 13 | HG00544.hp1 HG02055.hp1 NA18612.hp1 others(10): Show |
intron_variant | MODIFIER | c.2085+769dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTT | 7 | a0002c0002t0001g0118a0006c0006t0009g0027a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.2085+767_2085+769d others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTT | 26 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0048others(23): Show | 26 | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.2085+766_2085+769d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(9): Show |
1 | a0065c0033t0007g0135 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2085+754_2085+769d others(18): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0007g0261 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2085+765_2085+766i others(31): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(11): Show |
1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2085+752_2085+769d others(20): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0007g0262 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2085+766_2085+767i others(31): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(23): Show |
1 | a0030c0055t0007g0260 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2085+766_2085+767i others(32): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(24): Show |
1 | a0001c0001t0007g0259 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2085+766_2085+767i others(33): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(25): Show |
1 | a0001c0001t0007g0267 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2085+766_2085+767i others(34): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(12): Show |
2 | a0007c0008t0020g0052a0008c0007t0006g0012 | 2 | HG02895.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2085+751_2085+769d others(21): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(13): Show |
3 | a0007c0072t0001g0053a0026c0016t0008g0139a0040c0067t0005g0115 | 3 | HG02615.hp2 HG02896.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2085+750_2085+769d others(22): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(14): Show |
6 | a0002c0002t0001g0093a0002c0002t0013g0113a0007c0008t0001g0090others(3): Show | 6 | HG01243.hp1 HG02055.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.2085+749_2085+769d others(23): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(15): Show |
9 | a0002c0002t0001g0126a0007c0008t0019g0091a0007c0008t0020g0092others(6): Show | 9 | HG02257.hp1 HG02258.hp1 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.2085+769_2085+770i others(24): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(16): Show |
9 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0018others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.2085+769_2085+770i others(25): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(17): Show |
2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2085+769_2085+770i others(26): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(18): Show |
2 | a0017c0017t0004g0273a0027c0029t0023g0272 | 2 | HG01109.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.2085+769_2085+770i others(27): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(19): Show |
4 | a0005c0005t0005g0279a0012c0009t0004g0146a0012c0009t0004g0147others(1): Show | 4 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.2085+769_2085+770i others(28): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(21): Show |
1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2085+769_2085+770i others(30): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | CTTTTTTT others(22): Show |
1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2085+769_2085+770i others(31): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410726
|
C | T | 86 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(83): Show | 87 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.2085+748C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410726 | ||||||
| chr8:109410726
|
CTTTTTT | C | 29 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(26): Show | 31 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(28): Show |
intron_variant | MODIFIER | c.2085+764_2085+769d others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410726 | |||||
| chr8:109410732
|
T | C | 3 | a0002c0081t0001g0069a0042c0082t0001g0070a0045c0080t0002g0058 | 3 | HG00423.hp2 HG02155.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.2085+754T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109410732 | ||||||
| chr8:109410732
|
T | TTTTTTTT others(6): Show |
1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2085+766_2085+767i others(15): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410732 | |||||
| chr8:109410734
|
T | TTTTTTTT others(23): Show |
1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2085+766_2085+767i others(32): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | 109410734 | |||||
| chr8:109411007
|
T | G | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2085+1029T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411007 | ||||||
| chr8:109411023
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2085+1045G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411023 | ||||||
| chr8:109411030
|
G | T | 1 | a0021c0026t0013g0131 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2085+1052G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411030 | ||||||
| chr8:109411248
|
T | C | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2086-1017T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411248 | ||||||
| chr8:109411474
|
A | G | 21 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(18): Show | 21 | HG01074.hp2 HG01884.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.2086-791A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411474 | ||||||
| chr8:109411591
|
G | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.2086-674G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411591 | ||||||
| chr8:109411703
|
T | C | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2086-562T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411703 | ||||||
| chr8:109411748
|
G | A | 272 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(269): Show | 275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.2086-517G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411748 | ||||||
| chr8:109411811
|
C | T | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2086-454C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411811 | ||||||
| chr8:109411849
|
C | T | 1 | a0001c0001t0002g0236 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2086-416C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411849 | ||||||
| chr8:109411888
|
T | A | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.2086-377T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411888 | ||||||
| chr8:109411947
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2086-318G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109411947 | ||||||
| chr8:109412046
|
T | A | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2086-219T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109412046 | ||||||
| chr8:109412101
|
G | A | 4 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2086-164G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109412101 | ||||||
| chr8:109412228
|
A | G | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.2086-37A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | chr8 | 109412228 | ||||||
| chr8:109412538
|
C | G | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2235+124C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109412538 | ||||||
| chr8:109412881
|
T | G | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2235+467T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109412881 | ||||||
| chr8:109413035
|
A | G | 2 | a0003c0003t0003g0001a0055c0038t0031g0154 | 4 | HG00642.hp2 HG03239.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.2236-386A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413035 | ||||||
| chr8:109413097
|
A | G | 2 | a0035c0032t0004g0157a0047c0037t0028g0156 | 2 | HG02145.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.2236-324A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413097 | ||||||
| chr8:109413223
|
C | A | 1 | a0002c0002t0001g0036 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2236-198C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413223 | ||||||
| chr8:109413247
|
C | T | 1 | a0001c0001t0002g0220 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.2236-174C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413247 | ||||||
| chr8:109413306
|
C | T | 5 | a0003c0015t0003g0133a0016c0013t0012g0136a0016c0013t0012g0137others(2): Show | 5 | HG02451.hp2 HG02735.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.2236-115C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413306 | ||||||
| chr8:109413323
|
G | T | 55 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(52): Show | 57 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.2236-98G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413323 | ||||||
| chr8:109413365
|
G | A | 188 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(185): Show | 191 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(188): Show |
intron_variant | MODIFIER | c.2236-56G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 20/77 | chr8 | 109413365 | ||||||
| chr8:109413554
|
C | T | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2360+9C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109413554 | ||||||
| chr8:109413766
|
A | T | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2360+221A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109413766 | ||||||
| chr8:109413935
|
G | A | 1 | a0011c0011t0045g0108 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2360+390G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109413935 | ||||||
| chr8:109413947
|
A | G | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2360+402A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109413947 | ||||||
| chr8:109414122
|
C | T | 39 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(36): Show | 41 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(38): Show |
intron_variant | MODIFIER | c.2360+577C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414122 | ||||||
| chr8:109414378
|
G | A | 149 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(146): Show | 152 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.2360+833G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414378 | ||||||
| chr8:109414409
|
T | A | 2 | a0005c0005t0005g0144a0005c0005t0005g0145 | 2 | HG03540.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2360+864T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414409 | ||||||
| chr8:109414615
|
A | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2360+1070A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414615 | ||||||
| chr8:109414623
|
A | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.2360+1078A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414623 | ||||||
| chr8:109414625
|
T | C | 1 | a0002c0002t0001g0128 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2360+1080T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414625 | ||||||
| chr8:109414638
|
G | A | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2360+1093G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414638 | ||||||
| chr8:109414690
|
T | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2360+1145T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414690 | ||||||
| chr8:109414691
|
T | C | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.2360+1146T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414691 | ||||||
| chr8:109414795
|
A | C | 94 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(91): Show | 95 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2360+1250A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414795 | ||||||
| chr8:109414960
|
A | ACAT | 7 | a0001c0001t0002g0183a0001c0001t0002g0210a0001c0001t0002g0217others(4): Show | 7 | HG01261.hp1 HG02027.hp2 HG03704.hp1 others(4): Show |
intron_variant | MODIFIER | c.2360+1416_2360+141 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414960 | |||||
| chr8:109414961
|
CATT | C | 63 | a0001c0001t0002g0002a0001c0001t0002g0198a0001c0001t0002g0199others(60): Show | 64 | HG00408.hp2 HG00544.hp2 HG00733.hp2 others(61): Show |
intron_variant | MODIFIER | c.2360+1465_2360+146 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATT | C | 65 | a0001c0001t0002g0220a0002c0002t0001g0006a0002c0002t0001g0007others(62): Show | 65 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2360+1462_2360+146 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATTA others(2): Show |
C | 16 | a0002c0002t0001g0065a0002c0002t0001g0099a0003c0015t0017g0112others(13): Show | 16 | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.2360+1459_2360+146 others(13): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATTA others(5): Show |
C | 44 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(41): Show | 44 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(41): Show |
intron_variant | MODIFIER | c.2360+1456_2360+146 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATTA others(8): Show |
C | 9 | a0003c0003t0003g0176a0003c0015t0003g0133a0024c0023t0004g0132others(6): Show | 9 | HG01123.hp2 HG02630.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.2360+1453_2360+146 others(19): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATTA others(11): Show |
C | 22 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(19): Show | 24 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(21): Show |
intron_variant | MODIFIER | c.2360+1450_2360+146 others(22): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414961
|
CATTATTA others(14): Show |
C | 6 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272others(3): Show | 6 | HG01109.hp1 HG02257.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2360+1447_2360+146 others(25): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109414961 | |||||
| chr8:109414964
|
T | C | 36 | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0208others(33): Show | 36 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.2360+1419T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414964 | ||||||
| chr8:109414967
|
T | C | 34 | a0001c0001t0002g0002a0001c0001t0002g0198a0001c0001t0002g0199others(31): Show | 35 | HG00408.hp2 HG00544.hp2 HG00733.hp2 others(32): Show |
intron_variant | MODIFIER | c.2360+1422T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414967 | ||||||
| chr8:109414970
|
T | C | 2 | a0001c0001t0002g0220a0028c0057t0001g0181 | 2 | NA18944.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.2360+1425T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414970 | ||||||
| chr8:109414976
|
T | C | 16 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(13): Show | 16 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.2360+1431T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414976 | ||||||
| chr8:109414998
|
A | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2360+1453A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109414998 | ||||||
| chr8:109415001
|
A | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2360+1456A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415001 | ||||||
| chr8:109415004
|
A | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2360+1459A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415004 | ||||||
| chr8:109415007
|
A | T | 2 | a0005c0005t0005g0142a0062c0062t0026g0044 | 2 | HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2360+1462A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415007 | ||||||
| chr8:109415010
|
A | T | 2 | a0005c0005t0005g0142a0062c0062t0026g0044 | 2 | HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2360+1465A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415010 | ||||||
| chr8:109415182
|
T | C | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2360+1637T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415182 | ||||||
| chr8:109415422
|
G | C | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2360+1877G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415422 | ||||||
| chr8:109415463
|
G | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2360+1918G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415463 | ||||||
| chr8:109415514
|
G | A | 1 | a0001c0001t0002g0268 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.2360+1969G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415514 | ||||||
| chr8:109415554
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2360+2009G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415554 | ||||||
| chr8:109415742
|
A | T | 2 | a0003c0003t0003g0153a0003c0003t0003g0155 | 2 | HG02683.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.2360+2197A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415742 | ||||||
| chr8:109415847
|
TA | T | 13 | a0001c0001t0002g0199a0001c0001t0002g0206a0001c0001t0002g0235others(10): Show | 13 | HG00733.hp2 HG01081.hp2 HG01255.hp2 others(10): Show |
intron_variant | MODIFIER | c.2360+2316delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415847 | |||||
| chr8:109415860
|
AAGG | A | 42 | a0001c0001t0002g0002a0001c0001t0002g0183a0001c0001t0002g0189others(39): Show | 43 | HG00408.hp2 HG00544.hp2 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.2360+2316_2360+231 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415860 | ||||||
| chr8:109415860
|
AAGGGG | A | 24 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(21): Show | 24 | HG00280.hp1 HG00423.hp1 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.2360+2316_2360+232 others(9): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415860 | ||||||
| chr8:109415860
|
AAGGGGTG | A | 9 | a0001c0001t0002g0210a0001c0001t0002g0236a0001c0001t0010g0191others(6): Show | 9 | HG01257.hp1 HG04184.hp2 HG04199.hp2 others(6): Show |
intron_variant | MODIFIER | c.2360+2316_2360+232 others(11): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415860 | ||||||
| chr8:109415861
|
A | G | 6 | a0001c0001t0002g0205a0001c0001t0002g0219a0003c0015t0017g0112others(3): Show | 6 | HG00140.hp1 HG01074.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.2360+2316A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415861 | ||||||
| chr8:109415862
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2360+2317G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415862 | ||||||
| chr8:109415862
|
G | GT | 4 | a0001c0001t0002g0205a0001c0001t0002g0219a0004c0004t0001g0197others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG01106.hp2 others(1): Show |
intron_variant | MODIFIER | c.2360+2317_2360+231 others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415862 | ||||||
| chr8:109415864
|
G | GGT | 26 | a0002c0002t0001g0046a0002c0002t0001g0118a0002c0002t0001g0126others(23): Show | 26 | HG01106.hp1 HG01257.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.2360+2360_2360+236 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGT | 45 | a0002c0002t0001g0025a0002c0002t0001g0036a0002c0002t0001g0048others(42): Show | 47 | HG00423.hp2 HG00639.hp2 HG00642.hp2 others(44): Show |
intron_variant | MODIFIER | c.2360+2358_2360+236 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGTGT | 12 | a0002c0002t0001g0045a0005c0005t0005g0150a0006c0006t0009g0033others(9): Show | 12 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2360+2356_2360+236 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGTGTG others(1): Show |
9 | a0002c0002t0001g0125a0005c0005t0005g0151a0005c0047t0005g0258others(6): Show | 9 | HG01074.hp2 HG02257.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.2360+2354_2360+236 others(12): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGTGTG others(3): Show |
3 | a0011c0011t0008g0109a0015c0042t0016g0158a0057c0075t0035g0021 | 3 | HG02055.hp2 HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2360+2352_2360+236 others(14): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGTGTG others(5): Show |
4 | a0011c0011t0008g0107a0011c0011t0008g0110a0011c0011t0045g0108others(1): Show | 4 | HG01891.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.2360+2350_2360+236 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | GGTGTGTG others(7): Show |
1 | a0002c0002t0001g0101 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2360+2348_2360+236 others(18): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
G | T | 17 | a0001c0001t0002g0199a0001c0001t0002g0205a0001c0001t0002g0206others(14): Show | 17 | HG00140.hp1 HG00733.hp2 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.2360+2319G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415864 | ||||||
| chr8:109415864
|
GGT | G | 7 | a0002c0002t0001g0038a0002c0002t0001g0057a0002c0002t0001g0079others(4): Show | 7 | HG01168.hp1 HG01516.hp1 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.2360+2360_2360+236 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
GGTGT | G | 9 | a0002c0002t0001g0061a0003c0003t0003g0170a0003c0003t0003g0171others(6): Show | 9 | HG00639.hp1 HG00741.hp1 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.2360+2358_2360+236 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415864
|
GGTGTGTG others(3): Show |
G | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2360+2352_2360+236 others(14): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109415864 | |||||
| chr8:109415866
|
T | G | 24 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(21): Show | 24 | HG00280.hp1 HG00423.hp1 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.2360+2321T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415866 | ||||||
| chr8:109415868
|
T | G | 9 | a0001c0001t0002g0210a0001c0001t0002g0236a0001c0001t0010g0191others(6): Show | 9 | HG01257.hp1 HG04184.hp2 HG04199.hp2 others(6): Show |
intron_variant | MODIFIER | c.2360+2323T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415868 | ||||||
| chr8:109415869
|
G | A | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2360+2324G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415869 | ||||||
| chr8:109415884
|
T | C | 6 | a0002c0002t0001g0072a0002c0002t0001g0080a0002c0002t0014g0071others(3): Show | 6 | HG01109.hp2 HG01255.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.2360+2339T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415884 | ||||||
| chr8:109415891
|
GTGTGTGT others(9): Show |
G | 1 | a0004c0004t0001g0239 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2360+2347_2360+236 others(20): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415891 | ||||||
| chr8:109415906
|
T | G | 1 | a0004c0004t0001g0238 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2360+2361T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415906 | ||||||
| chr8:109415907
|
A | G | 3 | a0004c0004t0001g0196a0004c0004t0001g0197a0004c0004t0001g0238 | 3 | HG01074.hp1 HG01081.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.2360+2362A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415907 | ||||||
| chr8:109415925
|
G | A | 16 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(13): Show | 16 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.2360+2380G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109415925 | ||||||
| chr8:109416086
|
T | A | 1 | a0001c0001t0002g0217 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.2360+2541T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416086 | ||||||
| chr8:109416148
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2360+2603G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416148 | ||||||
| chr8:109416188
|
A | G | 1 | a0066c0079t0001g0098 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2360+2643A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416188 | ||||||
| chr8:109416211
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2360+2666C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416211 | ||||||
| chr8:109416247
|
T | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2360+2702T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416247 | ||||||
| chr8:109416270
|
CAT | C | 21 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(18): Show | 21 | HG01074.hp2 HG01884.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.2360+2726_2360+272 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416270 | ||||||
| chr8:109416376
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2361-2721A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416376 | ||||||
| chr8:109416451
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2361-2646A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416451 | ||||||
| chr8:109416573
|
A | C | 1 | a0002c0002t0014g0073 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2361-2524A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416573 | ||||||
| chr8:109416693
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-2404T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416693 | ||||||
| chr8:109416724
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-2373C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416724 | ||||||
| chr8:109416738
|
C | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2361-2359C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416738 | ||||||
| chr8:109416774
|
A | G | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2361-2323A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416774 | ||||||
| chr8:109416930
|
C | T | 31 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(28): Show | 33 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(30): Show |
intron_variant | MODIFIER | c.2361-2167C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109416930 | ||||||
| chr8:109417074
|
T | G | 148 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(145): Show | 151 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(148): Show |
intron_variant | MODIFIER | c.2361-2023T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417074 | ||||||
| chr8:109417080
|
G | C | 3 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147 | 3 | HG01884.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2361-2017G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417080 | ||||||
| chr8:109417184
|
A | G | 1 | a0048c0035t0033g0160 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2361-1913A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417184 | ||||||
| chr8:109417223
|
T | G | 170 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(167): Show | 173 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(170): Show |
intron_variant | MODIFIER | c.2361-1874T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417223 | ||||||
| chr8:109417296
|
A | G | 6 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.2361-1801A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417296 | ||||||
| chr8:109417426
|
T | A | 12 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.2361-1671T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417426 | ||||||
| chr8:109417521
|
A | AAAAT | 188 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(185): Show | 191 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(188): Show |
intron_variant | MODIFIER | c.2361-1575_2361-157 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | 109417521 | |||||
| chr8:109417532
|
G | A | 1 | a0001c0001t0002g0189 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2361-1565G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417532 | ||||||
| chr8:109417541
|
A | G | 1 | a0002c0002t0001g0099 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.2361-1556A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417541 | ||||||
| chr8:109417730
|
T | C | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2361-1367T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417730 | ||||||
| chr8:109417760
|
C | G | 21 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(18): Show | 21 | HG01074.hp2 HG01884.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.2361-1337C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417760 | ||||||
| chr8:109417767
|
G | C | 2 | a0001c0001t0002g0226a0018c0021t0001g0223 | 2 | NA18944.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.2361-1330G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417767 | ||||||
| chr8:109417772
|
G | A | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.2361-1325G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417772 | ||||||
| chr8:109417830
|
G | A | 1 | a0002c0002t0001g0078 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2361-1267G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417830 | ||||||
| chr8:109417845
|
T | C | 148 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(145): Show | 151 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(148): Show |
intron_variant | MODIFIER | c.2361-1252T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109417845 | ||||||
| chr8:109418116
|
T | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-981T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418116 | ||||||
| chr8:109418180
|
T | A | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.2361-917T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418180 | ||||||
| chr8:109418210
|
C | T | 1 | a0004c0004t0001g0197 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2361-887C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418210 | ||||||
| chr8:109418212
|
G | A | 149 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(146): Show | 152 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.2361-885G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418212 | ||||||
| chr8:109418265
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.2361-832C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418265 | ||||||
| chr8:109418274
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-823G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418274 | ||||||
| chr8:109418285
|
A | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-812A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418285 | ||||||
| chr8:109418375
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-722G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418375 | ||||||
| chr8:109418537
|
T | A | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2361-560T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418537 | ||||||
| chr8:109418760
|
T | C | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2361-337T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418760 | ||||||
| chr8:109418829
|
G | C | 171 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(168): Show | 174 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.2361-268G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418829 | ||||||
| chr8:109418954
|
G | A | 1 | a0003c0003t0003g0001 | 3 | HG03239.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.2361-143G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418954 | ||||||
| chr8:109418988
|
G | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2361-109G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | 109418988 | ||||||
| chr8:109419379
|
C | G | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2524+119C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419379 | ||||||
| chr8:109419388
|
C | G | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2524+128C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419388 | ||||||
| chr8:109419397
|
A | C | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2524+137A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419397 | ||||||
| chr8:109419470
|
T | A | 7 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(4): Show | 7 | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.2524+210T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419470 | ||||||
| chr8:109419550
|
C | CTT | 10 | a0003c0015t0017g0112a0003c0015t0017g0129a0006c0006t0009g0027others(7): Show | 10 | HG01074.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.2524+292_2524+293d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | INFO_REALIGN_3_PRIME | chr8 | 109419550 | |||||
| chr8:109419610
|
A | G | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2524+350A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419610 | ||||||
| chr8:109419900
|
T | A | 1 | a0001c0001t0024g0201 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2525-618T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109419900 | ||||||
| chr8:109419911
|
A | AT | 129 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(126): Show | 132 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.2525-596dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | INFO_REALIGN_3_PRIME | chr8 | 109419911 | |||||
| chr8:109420038
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2525-480G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109420038 | ||||||
| chr8:109420265
|
G | T | 1 | a0001c0001t0002g0233 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2525-253G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109420265 | ||||||
| chr8:109420372
|
C | T | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2525-146C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/77 | chr8 | 109420372 | ||||||
| chr8:109420713
|
AT | A | 5 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(2): Show | 5 | HG01261.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2697+28delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | INFO_REALIGN_3_PRIME | chr8 | 109420713 | |||||
| chr8:109420715
|
T | A | 4 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(1): Show | 4 | HG01261.hp2 HG02258.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2697+25T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109420715 | ||||||
| chr8:109420843
|
G | T | 1 | a0002c0002t0036g0050 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2697+153G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109420843 | ||||||
| chr8:109420998
|
T | C | 1 | a0044c0070t0001g0094 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2697+308T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109420998 | ||||||
| chr8:109421009
|
T | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2697+319T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421009 | ||||||
| chr8:109421217
|
A | G | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.2697+527A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421217 | ||||||
| chr8:109421295
|
C | T | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2697+605C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421295 | ||||||
| chr8:109421302
|
A | G | 1 | a0002c0002t0001g0037 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2697+612A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421302 | ||||||
| chr8:109421410
|
C | T | 1 | a0068c0048t0001g0105 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2697+720C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421410 | ||||||
| chr8:109421552
|
A | G | 148 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(145): Show | 151 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(148): Show |
intron_variant | MODIFIER | c.2697+862A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421552 | ||||||
| chr8:109421627
|
C | CA | 48 | a0001c0001t0002g0002a0001c0001t0002g0183a0001c0001t0002g0199others(45): Show | 49 | HG00140.hp1 HG00544.hp2 HG01069.hp2 others(46): Show |
intron_variant | MODIFIER | c.2697+944dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | INFO_REALIGN_3_PRIME | chr8 | 109421627 | |||||
| chr8:109421645
|
G | A | 1 | a0011c0011t0008g0109 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2697+955G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421645 | ||||||
| chr8:109421659
|
C | T | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2697+969C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421659 | ||||||
| chr8:109421738
|
C | G | 4 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2697+1048C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421738 | ||||||
| chr8:109421759
|
C | G | 202 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(199): Show | 205 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
intron_variant | MODIFIER | c.2697+1069C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421759 | ||||||
| chr8:109421777
|
C | CT | 7 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(4): Show | 9 | HG00280.hp2 HG00642.hp2 HG01192.hp2 others(6): Show |
intron_variant | MODIFIER | c.2697+1088dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | INFO_REALIGN_3_PRIME | chr8 | 109421777 | |||||
| chr8:109421925
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2697+1235C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421925 | ||||||
| chr8:109421985
|
T | A | 4 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2697+1295T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109421985 | ||||||
| chr8:109422218
|
GTT | G | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2697+1529_2697+153 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109422218 | ||||||
| chr8:109422219
|
TTG | T | 44 | a0003c0015t0003g0133a0003c0015t0017g0112a0003c0015t0017g0129others(41): Show | 44 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(41): Show |
intron_variant | MODIFIER | c.2697+1544_2697+154 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | INFO_REALIGN_3_PRIME | chr8 | 109422219 | |||||
| chr8:109422221
|
G | C | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2697+1531G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109422221 | ||||||
| chr8:109422515
|
G | A | 1 | a0002c0002t0001g0080 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2697+1825G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109422515 | ||||||
| chr8:109422793
|
A | G | 17 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(14): Show | 17 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.2697+2103A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109422793 | ||||||
| chr8:109422994
|
T | C | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2698-2091T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109422994 | ||||||
| chr8:109423185
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2698-1900T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423185 | ||||||
| chr8:109423231
|
G | A | 1 | a0012c0009t0004g0143 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2698-1854G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423231 | ||||||
| chr8:109423258
|
A | T | 1 | a0002c0002t0001g0125 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.2698-1827A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423258 | ||||||
| chr8:109423283
|
A | G | 32 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(29): Show | 32 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(29): Show |
intron_variant | MODIFIER | c.2698-1802A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423283 | ||||||
| chr8:109423433
|
A | C | 31 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(28): Show | 31 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.2698-1652A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423433 | ||||||
| chr8:109423456
|
T | C | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2698-1629T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423456 | ||||||
| chr8:109423566
|
A | T | 1 | a0002c0002t0001g0101 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2698-1519A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423566 | ||||||
| chr8:109423650
|
T | C | 3 | a0016c0013t0012g0136a0016c0013t0012g0137a0065c0033t0007g0135 | 3 | HG02451.hp2 HG03130.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2698-1435T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423650 | ||||||
| chr8:109423671
|
T | C | 25 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(22): Show | 27 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
intron_variant | MODIFIER | c.2698-1414T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423671 | ||||||
| chr8:109423687
|
A | T | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2698-1398A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423687 | ||||||
| chr8:109423705
|
G | A | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2698-1380G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423705 | ||||||
| chr8:109423784
|
T | C | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2698-1301T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423784 | ||||||
| chr8:109423831
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2698-1254C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423831 | ||||||
| chr8:109423886
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2698-1199C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423886 | ||||||
| chr8:109423952
|
G | A | 1 | a0024c0023t0004g0123 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2698-1133G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423952 | ||||||
| chr8:109423975
|
T | C | 17 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(14): Show | 17 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.2698-1110T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109423975 | ||||||
| chr8:109424197
|
T | C | 1 | a0002c0002t0001g0046 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2698-888T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424197 | ||||||
| chr8:109424375
|
A | G | 128 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(125): Show | 129 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(126): Show |
intron_variant | MODIFIER | c.2698-710A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424375 | ||||||
| chr8:109424405
|
T | C | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2698-680T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424405 | ||||||
| chr8:109424443
|
C | T | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2698-642C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424443 | ||||||
| chr8:109424499
|
G | T | 1 | a0016c0013t0012g0137 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2698-586G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424499 | ||||||
| chr8:109424534
|
G | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2698-551G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424534 | ||||||
| chr8:109424827
|
G | A | 3 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147 | 3 | HG01884.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2698-258G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109424827 | ||||||
| chr8:109425032
|
T | A | 5 | a0005c0005t0005g0144a0005c0005t0005g0145a0005c0005t0005g0148others(2): Show | 5 | HG02970.hp2 HG02976.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2698-53T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 23/77 | chr8 | 109425032 | ||||||
| chr8:109425351
|
ATTAT | A | 4 | a0010c0010t0006g0014a0010c0010t0006g0015a0010c0010t0006g0016others(1): Show | 4 | HG02258.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2845+126_2845+129d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | INFO_REALIGN_3_PRIME | chr8 | 109425351 | |||||
| chr8:109425441
|
G | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2845+209G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109425441 | ||||||
| chr8:109425512
|
A | G | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2845+280A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109425512 | ||||||
| chr8:109425918
|
T | C | 1 | a0002c0002t0001g0065 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2845+686T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109425918 | ||||||
| chr8:109426079
|
A | T | 1 | a0071c0083t0001g0056 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2845+847A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426079 | ||||||
| chr8:109426177
|
C | G | 2 | a0013c0024t0001g0097a0013c0024t0001g0120 | 2 | NA19080.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.2846-825C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426177 | ||||||
| chr8:109426200
|
T | C | 4 | a0002c0002t0013g0113a0022c0025t0004g0114a0022c0025t0032g0124others(1): Show | 4 | HG02145.hp1 HG02615.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2846-802T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426200 | ||||||
| chr8:109426231
|
ACATT | A | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2846-770_2846-767d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426231 | ||||||
| chr8:109426235
|
T | TAA | 97 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(94): Show | 99 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2846-767_2846-766i others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426235 | ||||||
| chr8:109426386
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2846-616T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426386 | ||||||
| chr8:109426389
|
G | A | 5 | a0002c0002t0001g0043a0002c0002t0001g0049a0002c0002t0001g0066others(2): Show | 5 | HG00544.hp1 NA18999.hp2 NA19007.hp1 others(2): Show |
intron_variant | MODIFIER | c.2846-613G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426389 | ||||||
| chr8:109426434
|
C | T | 1 | a0003c0003t0003g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2846-568C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426434 | ||||||
| chr8:109426743
|
T | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2846-259T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426743 | ||||||
| chr8:109426746
|
G | A | 2 | a0021c0026t0013g0130a0021c0026t0013g0131 | 2 | HG00741.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2846-256G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426746 | ||||||
| chr8:109426799
|
C | T | 1 | a0001c0001t0002g0187 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2846-203C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426799 | ||||||
| chr8:109426876
|
C | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2846-126C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426876 | ||||||
| chr8:109426892
|
A | G | 3 | a0003c0015t0003g0133a0003c0015t0017g0112a0003c0015t0017g0129 | 3 | HG02280.hp2 HG02735.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2846-110A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426892 | ||||||
| chr8:109426900
|
G | A | 3 | a0003c0015t0003g0133a0003c0015t0017g0112a0003c0015t0017g0129 | 3 | HG02280.hp2 HG02735.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2846-102G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426900 | ||||||
| chr8:109426921
|
A | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2846-81A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426921 | ||||||
| chr8:109426937
|
A | G | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.2846-65A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 24/77 | chr8 | 109426937 | ||||||
| chr8:109427290
|
G | C | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.3000+134G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109427290 | ||||||
| chr8:109427413
|
A | C | 1 | a0025c0030t0004g0275 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3000+257A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109427413 | ||||||
| chr8:109427532
|
C | T | 93 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(90): Show | 94 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.3000+376C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109427532 | ||||||
| chr8:109427549
|
G | A | 1 | a0071c0083t0001g0056 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3000+393G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109427549 | ||||||
| chr8:109427812
|
G | A | 1 | a0002c0002t0001g0049 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.3000+656G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109427812 | ||||||
| chr8:109428023
|
C | CA | 45 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0037others(42): Show | 47 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.3000+896dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
C | CAA | 12 | a0002c0002t0001g0036a0002c0002t0001g0087a0003c0003t0003g0171others(9): Show | 12 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.3000+895_3000+896d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAA | C | 22 | a0008c0007t0006g0011a0008c0007t0006g0012a0008c0007t0006g0013others(19): Show | 22 | HG01167.hp2 HG01891.hp2 HG01934.hp1 others(19): Show |
intron_variant | MODIFIER | c.3000+893_3000+896d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAAA | C | 24 | a0001c0001t0002g0198a0001c0001t0002g0206a0001c0001t0002g0208others(21): Show | 24 | HG00280.hp1 HG00423.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.3000+892_3000+896d others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAAAA | C | 72 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(69): Show | 73 | HG00140.hp1 HG00408.hp2 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.3000+891_3000+896d others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAAAAA | C | 8 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0202others(5): Show | 8 | HG02040.hp2 HG02273.hp1 NA18966.hp2 others(5): Show |
intron_variant | MODIFIER | c.3000+890_3000+896d others(9): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAAAAA others(7): Show |
C | 26 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(23): Show | 26 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.3000+883_3000+896d others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428023
|
CAAAAAAA others(8): Show |
C | 5 | a0012c0009t0004g0152a0035c0032t0004g0157a0047c0037t0028g0156others(2): Show | 5 | HG02145.hp2 HG02559.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.3000+882_3000+896d others(17): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | 109428023 | |||||
| chr8:109428068
|
A | T | 1 | a0003c0003t0003g0171 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.3000+912A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428068 | ||||||
| chr8:109428354
|
G | A | 1 | a0001c0001t0002g0206 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3001-986G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428354 | ||||||
| chr8:109428395
|
T | A | 198 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(195): Show | 201 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(198): Show |
intron_variant | MODIFIER | c.3001-945T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428395 | ||||||
| chr8:109428436
|
T | A | 2 | a0002c0002t0001g0037a0038c0066t0001g0054 | 2 | HG00323.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.3001-904T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428436 | ||||||
| chr8:109428549
|
G | T | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3001-791G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428549 | ||||||
| chr8:109428702
|
A | G | 1 | a0002c0002t0001g0101 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3001-638A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428702 | ||||||
| chr8:109428718
|
A | T | 1 | a0004c0004t0001g0196 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3001-622A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109428718 | ||||||
| chr8:109429134
|
T | A | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3001-206T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109429134 | ||||||
| chr8:109429142
|
A | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3001-198A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | chr8 | 109429142 | ||||||
| chr8:109429692
|
A | G | 1 | a0001c0001t0002g0206 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3123+230A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/77 | chr8 | 109429692 | ||||||
| chr8:109429710
|
A | G | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3124-222A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/77 | chr8 | 109429710 | ||||||
| chr8:109429787
|
A | G | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3124-145A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/77 | chr8 | 109429787 | ||||||
| chr8:109429803
|
C | CA | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3124-123dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/77 | INFO_REALIGN_3_PRIME | chr8 | 109429803 | |||||
| chr8:109429831
|
T | C | 6 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(3): Show | 6 | HG02055.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3124-101T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 26/77 | chr8 | 109429831 | ||||||
| chr8:109430154
|
C | G | 21 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(18): Show | 21 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.3229+117C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430154 | ||||||
| chr8:109430181
|
C | T | 11 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(8): Show | 11 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.3229+144C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430181 | ||||||
| chr8:109430497
|
G | A | 64 | a0003c0015t0003g0133a0003c0015t0017g0112a0003c0015t0017g0129others(61): Show | 64 | HG01109.hp1 HG01167.hp2 HG01884.hp2 others(61): Show |
intron_variant | MODIFIER | c.3229+460G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430497 | ||||||
| chr8:109430534
|
A | G | 3 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147 | 3 | HG01884.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3229+497A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430534 | ||||||
| chr8:109430548
|
G | A | 1 | a0001c0001t0007g0259 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3229+511G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430548 | ||||||
| chr8:109430681
|
C | A | 10 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(7): Show | 10 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3229+644C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430681 | ||||||
| chr8:109430864
|
A | G | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.3229+827A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109430864 | ||||||
| chr8:109430972
|
C | CT | 17 | a0001c0001t0027g0228a0003c0015t0003g0133a0003c0015t0017g0112others(14): Show | 17 | HG02055.hp2 HG02280.hp2 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.3229+951dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | INFO_REALIGN_3_PRIME | chr8 | 109430972 | |||||
| chr8:109430972
|
CT | C | 36 | a0001c0001t0002g0182a0001c0001t0002g0265a0001c0001t0007g0259others(33): Show | 38 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(35): Show |
intron_variant | MODIFIER | c.3229+951delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | INFO_REALIGN_3_PRIME | chr8 | 109430972 | |||||
| chr8:109431060
|
C | T | 1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3229+1023C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431060 | ||||||
| chr8:109431071
|
G | A | 25 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(22): Show | 27 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
intron_variant | MODIFIER | c.3229+1034G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431071 | ||||||
| chr8:109431094
|
A | G | 4 | a0001c0001t0002g0185a0001c0001t0002g0189a0001c0001t0002g0195others(1): Show | 4 | HG01081.hp1 HG01175.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.3229+1057A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431094 | ||||||
| chr8:109431120
|
A | G | 1 | a0003c0003t0003g0177 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3229+1083A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431120 | ||||||
| chr8:109431239
|
C | T | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3229+1202C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431239 | ||||||
| chr8:109431251
|
T | C | 202 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(199): Show | 205 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
intron_variant | MODIFIER | c.3229+1214T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431251 | ||||||
| chr8:109431318
|
CAT | C | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3229+1286_3229+128 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | INFO_REALIGN_3_PRIME | chr8 | 109431318 | |||||
| chr8:109431395
|
T | C | 1 | a0002c0002t0001g0046 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.3229+1358T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431395 | ||||||
| chr8:109431503
|
C | A | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3229+1466C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431503 | ||||||
| chr8:109431547
|
C | T | 1 | a0001c0001t0002g0216 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3229+1510C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431547 | ||||||
| chr8:109431724
|
G | T | 13 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(10): Show | 13 | HG01109.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.3230-1382G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431724 | ||||||
| chr8:109431787
|
G | C | 2 | a0002c0002t0001g0037a0038c0066t0001g0054 | 2 | HG00323.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.3230-1319G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431787 | ||||||
| chr8:109431817
|
G | T | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3230-1289G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109431817 | ||||||
| chr8:109432024
|
T | C | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3230-1082T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432024 | ||||||
| chr8:109432262
|
T | A | 6 | a0002c0002t0013g0113a0021c0026t0013g0130a0021c0026t0013g0131others(3): Show | 6 | HG00741.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.3230-844T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432262 | ||||||
| chr8:109432299
|
C | T | 1 | a0006c0006t0009g0031 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3230-807C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432299 | ||||||
| chr8:109432301
|
T | C | 3 | a0012c0009t0004g0152a0051c0060t0005g0035a0069c0028t0001g0141 | 3 | HG02559.hp2 HG02896.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3230-805T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432301 | ||||||
| chr8:109432334
|
T | C | 2 | a0002c0002t0001g0038a0002c0002t0001g0079 | 2 | NA18612.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.3230-772T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432334 | ||||||
| chr8:109432467
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3230-639G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432467 | ||||||
| chr8:109432512
|
TTATC | T | 6 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(3): Show | 6 | HG02055.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3230-581_3230-578d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | INFO_REALIGN_3_PRIME | chr8 | 109432512 | |||||
| chr8:109432610
|
T | A | 8 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(5): Show | 8 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3230-496T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432610 | ||||||
| chr8:109432656
|
G | C | 3 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008 | 3 | HG02055.hp1 HG03130.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.3230-450G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432656 | ||||||
| chr8:109432840
|
A | G | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3230-266A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109432840 | ||||||
| chr8:109433003
|
C | A | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3230-103C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 27/77 | chr8 | 109433003 | ||||||
| chr8:109433285
|
A | G | 1 | a0025c0031t0004g0276 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3340+69A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433285 | ||||||
| chr8:109433306
|
T | C | 2 | a0048c0035t0033g0160a0049c0036t0004g0159 | 2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3340+90T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433306 | ||||||
| chr8:109433313
|
A | C | 1 | a0001c0001t0002g0256 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3340+97A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433313 | ||||||
| chr8:109433347
|
A | G | 6 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.3340+131A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433347 | ||||||
| chr8:109433382
|
T | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3340+166T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433382 | ||||||
| chr8:109433423
|
T | C | 1 | a0013c0024t0001g0097 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.3340+207T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433423 | ||||||
| chr8:109433456
|
A | G | 1 | a0044c0070t0001g0094 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.3340+240A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433456 | ||||||
| chr8:109433506
|
G | A | 4 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(1): Show | 4 | HG01261.hp2 HG02258.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3340+290G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433506 | ||||||
| chr8:109433681
|
C | G | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.3340+465C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433681 | ||||||
| chr8:109433927
|
C | A | 10 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(7): Show | 10 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3340+711C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109433927 | ||||||
| chr8:109434013
|
C | A | 1 | a0001c0001t0002g0264 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3340+797C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434013 | ||||||
| chr8:109434018
|
A | G | 1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3340+802A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434018 | ||||||
| chr8:109434068
|
C | T | 6 | a0001c0001t0002g0183a0001c0001t0002g0208a0001c0001t0002g0209others(3): Show | 6 | NA18951.hp1 NA18999.hp1 NA19004.hp1 others(3): Show |
intron_variant | MODIFIER | c.3340+852C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434068 | ||||||
| chr8:109434098
|
G | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3340+882G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434098 | ||||||
| chr8:109434279
|
C | T | 1 | a0002c0002t0001g0126 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3341-911C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434279 | ||||||
| chr8:109434494
|
A | C | 1 | a0040c0067t0005g0115 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3341-696A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434494 | ||||||
| chr8:109434559
|
C | T | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3341-631C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434559 | ||||||
| chr8:109434566
|
T | G | 6 | a0025c0030t0004g0275a0025c0031t0004g0276a0035c0032t0004g0157others(3): Show | 6 | HG02145.hp2 HG02630.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.3341-624T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434566 | ||||||
| chr8:109434622
|
C | A | 1 | a0002c0002t0001g0093 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3341-568C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434622 | ||||||
| chr8:109434749
|
G | T | 2 | a0003c0003t0003g0153a0003c0003t0003g0155 | 2 | HG02683.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.3341-441G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434749 | ||||||
| chr8:109434883
|
GT | G | 62 | a0003c0015t0003g0133a0003c0015t0017g0112a0005c0005t0005g0142others(59): Show | 62 | HG01109.hp1 HG01167.hp2 HG01884.hp2 others(59): Show |
intron_variant | MODIFIER | c.3341-297delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | INFO_REALIGN_3_PRIME | chr8 | 109434883 | |||||
| chr8:109434893
|
T | A | 12 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(9): Show | 14 | HG00280.hp2 HG00642.hp2 HG01192.hp2 others(11): Show |
intron_variant | MODIFIER | c.3341-297T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434893 | ||||||
| chr8:109434894
|
A | T | 2 | a0002c0002t0001g0065a0068c0048t0001g0105 | 2 | NA20752.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.3341-296A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434894 | ||||||
| chr8:109434983
|
T | C | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3341-207T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 28/77 | chr8 | 109434983 | ||||||
| chr8:109435475
|
A | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3505+121A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109435475 | ||||||
| chr8:109435543
|
C | T | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0027c0029t0023g0272 | 3 | HG01109.hp1 HG02257.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3505+189C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109435543 | ||||||
| chr8:109435628
|
G | A | 6 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158others(3): Show | 6 | HG02055.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3505+274G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109435628 | ||||||
| chr8:109435701
|
T | C | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.3505+347T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109435701 | ||||||
| chr8:109435808
|
ATTTG | A | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.3505+462_3505+465d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | INFO_REALIGN_3_PRIME | chr8 | 109435808 | |||||
| chr8:109436041
|
T | A | 1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3506-297T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109436041 | ||||||
| chr8:109436298
|
A | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3506-40A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109436298 | ||||||
| chr8:109436325
|
T | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3506-13T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 29/77 | chr8 | 109436325 | ||||||
| chr8:109436491
|
C | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3627+32C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436491 | ||||||
| chr8:109436513
|
T | C | 1 | a0001c0001t0002g0189 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.3627+54T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436513 | ||||||
| chr8:109436514
|
T | C | 10 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(7): Show | 10 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3627+55T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436514 | ||||||
| chr8:109436602
|
T | C | 5 | a0003c0015t0003g0133a0025c0030t0004g0275a0025c0031t0004g0276others(2): Show | 5 | HG02145.hp2 HG02630.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3627+143T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436602 | ||||||
| chr8:109436622
|
T | A | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3627+163T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436622 | ||||||
| chr8:109436644
|
G | A | 59 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(56): Show | 61 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
intron_variant | MODIFIER | c.3627+185G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436644 | ||||||
| chr8:109436695
|
A | C | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3627+236A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436695 | ||||||
| chr8:109436725
|
A | G | 1 | a0001c0001t0002g0210 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.3627+266A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109436725 | ||||||
| chr8:109437162
|
C | A | 20 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(17): Show | 20 | HG01109.hp1 HG01891.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.3627+703C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437162 | ||||||
| chr8:109437306
|
G | A | 278 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(275): Show | 281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.3627+847G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437306 | ||||||
| chr8:109437390
|
C | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3627+931C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437390 | ||||||
| chr8:109437417
|
T | C | 1 | a0001c0001t0002g0219 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3628-907T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437417 | ||||||
| chr8:109437480
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3628-844C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437480 | ||||||
| chr8:109437493
|
C | T | 1 | a0002c0002t0001g0025 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.3628-831C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437493 | ||||||
| chr8:109437526
|
A | G | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3628-798A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437526 | ||||||
| chr8:109437722
|
G | A | 5 | a0004c0004t0001g0244a0004c0004t0001g0248a0004c0004t0001g0251others(2): Show | 5 | HG00280.hp1 HG01175.hp2 HG01261.hp1 others(2): Show |
intron_variant | MODIFIER | c.3628-602G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437722 | ||||||
| chr8:109437863
|
A | G | 32 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(29): Show | 34 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(31): Show |
intron_variant | MODIFIER | c.3628-461A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109437863 | ||||||
| chr8:109438059
|
C | T | 1 | a0037c0065t0001g0096 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.3628-265C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109438059 | ||||||
| chr8:109438213
|
T | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3628-111T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 30/77 | chr8 | 109438213 | ||||||
| chr8:109438458
|
T | C | 1 | a0013c0064t0001g0040 | 1 | NA18747.hp2 | splice_donor_variant&intron_variant | HIGH | c.3760+2T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | 109438458 | ||||||
| chr8:109438669
|
T | A | 1 | a0001c0001t0002g0211 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.3760+213T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | 109438669 | ||||||
| chr8:109438670
|
A | T | 1 | a0001c0001t0010g0269 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.3760+214A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | 109438670 | ||||||
| chr8:109438679
|
C | T | 43 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(40): Show | 45 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(42): Show |
intron_variant | MODIFIER | c.3761-218C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | 109438679 | ||||||
| chr8:109438896
|
G | A | 1 | a0051c0060t0005g0035 | 1 | NA19043.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.3761-1G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | 109438896 | ||||||
| chr8:109439132
|
C | T | 1 | a0002c0002t0001g0080 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3956+40C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439132 | ||||||
| chr8:109439233
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.3956+141G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439233 | ||||||
| chr8:109439261
|
C | T | 1 | a0001c0001t0002g0002 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3956+169C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439261 | ||||||
| chr8:109439519
|
C | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3956+427C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439519 | ||||||
| chr8:109439682
|
G | A | 160 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(157): Show | 163 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.3956+590G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439682 | ||||||
| chr8:109439714
|
C | T | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3956+622C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439714 | ||||||
| chr8:109439954
|
A | G | 46 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(43): Show | 48 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(45): Show |
intron_variant | MODIFIER | c.3957-756A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439954 | ||||||
| chr8:109439996
|
G | A | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.3957-714G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109439996 | ||||||
| chr8:109440115
|
C | T | 2 | a0035c0032t0004g0157a0047c0037t0028g0156 | 2 | HG02145.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.3957-595C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109440115 | ||||||
| chr8:109440271
|
C | T | 3 | a0005c0005t0005g0148a0005c0005t0005g0149a0005c0005t0005g0150 | 3 | HG02970.hp2 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.3957-439C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109440271 | ||||||
| chr8:109440430
|
C | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3957-280C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109440430 | ||||||
| chr8:109440575
|
G | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3957-135G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109440575 | ||||||
| chr8:109440671
|
A | T | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3957-39A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 32/77 | chr8 | 109440671 | ||||||
| chr8:109440903
|
G | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4099+51G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109440903 | ||||||
| chr8:109441148
|
C | T | 3 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147 | 3 | HG01884.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4100-127C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109441148 | ||||||
| chr8:109441150
|
A | G | 1 | a0032c0056t0004g0257 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4100-125A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109441150 | ||||||
| chr8:109441171
|
A | T | 1 | a0010c0010t0006g0017 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4100-104A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109441171 | ||||||
| chr8:109441213
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4100-62C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109441213 | ||||||
| chr8:109441237
|
T | C | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.4100-38T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 33/77 | chr8 | 109441237 | ||||||
| chr8:109441389
|
A | G | 1 | a0005c0005t0005g0148 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.4204+10A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 34/77 | chr8 | 109441389 | ||||||
| chr8:109441521
|
CATAGAGG others(7): Show |
C | 1 | a0003c0003t0003g0174 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.4204+149_4204+162d others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 34/77 | INFO_REALIGN_3_PRIME | chr8 | 109441521 | |||||
| chr8:109441537
|
T | C | 1 | a0001c0001t0002g0219 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.4204+158T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 34/77 | chr8 | 109441537 | ||||||
| chr8:109441934
|
T | G | 1 | a0055c0038t0031g0154 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4205-73T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 34/77 | chr8 | 109441934 | ||||||
| chr8:109442294
|
AAT | A | 23 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(20): Show | 25 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(22): Show |
intron_variant | MODIFIER | c.4393+103_4393+104d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | INFO_REALIGN_3_PRIME | chr8 | 109442294 | |||||
| chr8:109442453
|
A | G | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4393+258A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442453 | ||||||
| chr8:109442505
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4393+310G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442505 | ||||||
| chr8:109442517
|
G | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4393+322G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442517 | ||||||
| chr8:109442537
|
C | A | 1 | a0002c0002t0001g0049 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.4393+342C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442537 | ||||||
| chr8:109442650
|
T | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4394-296T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442650 | ||||||
| chr8:109442776
|
T | A | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4394-170T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 35/77 | chr8 | 109442776 | ||||||
| chr8:109443417
|
A | C | 12 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(9): Show | 12 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.4565-259A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 36/77 | chr8 | 109443417 | ||||||
| chr8:109443653
|
A | C | 1 | a0001c0001t0002g0199 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.4565-23A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 36/77 | chr8 | 109443653 | ||||||
| chr8:109444115
|
T | TC | 49 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(46): Show | 51 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(48): Show |
intron_variant | MODIFIER | c.4791+222dupC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | INFO_REALIGN_3_PRIME | chr8 | 109444115 | |||||
| chr8:109444121
|
C | A | 1 | a0002c0002t0001g0128 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.4791+219C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444121 | ||||||
| chr8:109444122
|
C | CG | 115 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(112): Show | 116 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.4791+220_4791+221i others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444122 | ||||||
| chr8:109444123
|
C | G | 1 | a0001c0001t0002g0268 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.4791+221C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444123 | ||||||
| chr8:109444124
|
C | A | 1 | a0029c0052t0002g0224 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.4791+222C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444124 | ||||||
| chr8:109444125
|
A | C | 1 | a0001c0001t0002g0268 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.4791+223A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444125 | ||||||
| chr8:109444359
|
A | T | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4792-302A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444359 | ||||||
| chr8:109444483
|
A | C | 1 | a0002c0002t0001g0037 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4792-178A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444483 | ||||||
| chr8:109444548
|
TA | T | 121 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(118): Show | 122 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(119): Show |
intron_variant | MODIFIER | c.4792-112delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444548 | ||||||
| chr8:109444604
|
T | G | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4792-57T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444604 | ||||||
| chr8:109444647
|
C | T | 3 | a0016c0013t0012g0136a0016c0013t0012g0137a0060c0044t0012g0020 | 3 | HG02572.hp2 HG03130.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4792-14C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 37/77 | chr8 | 109444647 | ||||||
| chr8:109445753
|
G | T | 3 | a0007c0008t0001g0090a0007c0008t0019g0089a0007c0008t0019g0091 | 3 | HG01243.hp1 HG03453.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.5776+108G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109445753 | ||||||
| chr8:109445770
|
A | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.5776+125A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109445770 | ||||||
| chr8:109445857
|
T | A | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.5776+212T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109445857 | ||||||
| chr8:109445991
|
CAA | C | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.5776+349_5776+350d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | INFO_REALIGN_3_PRIME | chr8 | 109445991 | |||||
| chr8:109446163
|
C | A | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.5776+518C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446163 | ||||||
| chr8:109446314
|
G | A | 9 | a0003c0003t0003g0170a0003c0003t0003g0171a0003c0003t0003g0174others(6): Show | 9 | HG00639.hp1 HG00741.hp1 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.5776+669G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446314 | ||||||
| chr8:109446474
|
T | G | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.5776+829T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446474 | ||||||
| chr8:109446590
|
G | A | 46 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(43): Show | 48 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(45): Show |
intron_variant | MODIFIER | c.5776+945G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446590 | ||||||
| chr8:109446594
|
T | A | 1 | a0001c0001t0002g0218 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.5776+949T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446594 | ||||||
| chr8:109446681
|
G | A | 1 | a0016c0013t0012g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5776+1036G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446681 | ||||||
| chr8:109446755
|
A | C | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5776+1110A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446755 | ||||||
| chr8:109446840
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5776+1195A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446840 | ||||||
| chr8:109446877
|
T | C | 1 | a0004c0050t0040g0247 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.5776+1232T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446877 | ||||||
| chr8:109446999
|
G | T | 1 | a0007c0072t0001g0053 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.5777-1144G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109446999 | ||||||
| chr8:109447021
|
C | T | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.5777-1122C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447021 | ||||||
| chr8:109447125
|
A | G | 2 | a0025c0030t0004g0275a0025c0031t0004g0276 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.5777-1018A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447125 | ||||||
| chr8:109447209
|
C | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5777-934C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447209 | ||||||
| chr8:109447249
|
A | C | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5777-894A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447249 | ||||||
| chr8:109447255
|
T | C | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5777-888T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447255 | ||||||
| chr8:109447258
|
C | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5777-885C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447258 | ||||||
| chr8:109447472
|
C | T | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.5777-671C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447472 | ||||||
| chr8:109447492
|
T | A | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5777-651T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447492 | ||||||
| chr8:109447498
|
C | T | 1 | a0002c0002t0001g0064 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.5777-645C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447498 | ||||||
| chr8:109447523
|
G | A | 1 | a0001c0001t0002g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.5777-620G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447523 | ||||||
| chr8:109447529
|
A | G | 16 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(13): Show | 16 | HG01109.hp1 HG01891.hp2 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.5777-614A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447529 | ||||||
| chr8:109447696
|
T | C | 1 | a0002c0002t0013g0113 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5777-447T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447696 | ||||||
| chr8:109447872
|
G | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.5777-271G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447872 | ||||||
| chr8:109447990
|
T | C | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.5777-153T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109447990 | ||||||
| chr8:109448088
|
G | T | 13 | a0001c0001t0002g0184a0001c0001t0002g0185a0001c0001t0002g0187others(10): Show | 13 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.5777-55G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109448088 | ||||||
| chr8:109448119
|
T | C | 1 | a0001c0001t0034g0230 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.5777-24T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | chr8 | 109448119 | ||||||
| chr8:109448126
|
CT | C | 29 | a0001c0001t0002g0226a0003c0003t0003g0001a0003c0003t0003g0153others(26): Show | 31 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(28): Show |
splice_region_variant&intron_variant | LOW | c.5777-4delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 38/77 | INFO_REALIGN_3_PRIME | chr8 | 109448126 | |||||
| chr8:109448413
|
C | A | 1 | a0040c0067t0005g0115 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.6025+22C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448413 | ||||||
| chr8:109448499
|
G | T | 170 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(167): Show | 173 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(170): Show |
intron_variant | MODIFIER | c.6025+108G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448499 | ||||||
| chr8:109448513
|
T | G | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.6025+122T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448513 | ||||||
| chr8:109448517
|
GT | G | 71 | a0002c0002t0013g0113a0003c0003t0003g0001a0003c0003t0003g0153others(68): Show | 73 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(70): Show |
intron_variant | MODIFIER | c.6025+138delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | INFO_REALIGN_3_PRIME | chr8 | 109448517 | |||||
| chr8:109448550
|
C | G | 12 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(9): Show | 12 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.6025+159C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448550 | ||||||
| chr8:109448564
|
T | A | 1 | a0001c0001t0007g0259 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.6025+173T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448564 | ||||||
| chr8:109448678
|
A | AT | 21 | a0001c0001t0002g0255a0004c0004t0001g0196a0004c0004t0001g0197others(18): Show | 21 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(18): Show |
intron_variant | MODIFIER | c.6025+296dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | INFO_REALIGN_3_PRIME | chr8 | 109448678 | |||||
| chr8:109448736
|
A | G | 12 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.6025+345A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448736 | ||||||
| chr8:109448760
|
A | C | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6025+369A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448760 | ||||||
| chr8:109448975
|
T | A | 4 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(1): Show | 4 | HG02055.hp1 HG02922.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.6026-363T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109448975 | ||||||
| chr8:109449069
|
G | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.6026-269G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109449069 | ||||||
| chr8:109449223
|
A | G | 1 | a0001c0001t0002g0211 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.6026-115A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109449223 | ||||||
| chr8:109449289
|
A | G | 190 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(187): Show | 193 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.6026-49A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 39/77 | chr8 | 109449289 | ||||||
| chr8:109449716
|
G | A | 6 | a0002c0002t0001g0072a0002c0002t0001g0080a0002c0002t0014g0071others(3): Show | 6 | HG01109.hp2 HG01255.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.6175+229G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109449716 | ||||||
| chr8:109449772
|
G | T | 1 | a0042c0082t0001g0070 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.6175+285G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109449772 | ||||||
| chr8:109449775
|
C | T | 1 | a0007c0072t0001g0053 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.6175+288C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109449775 | ||||||
| chr8:109450128
|
C | T | 2 | a0009c0012t0001g0067a0009c0012t0001g0075 | 2 | NA18952.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.6175+641C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450128 | ||||||
| chr8:109450129
|
G | A | 210 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(207): Show | 213 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(210): Show |
intron_variant | MODIFIER | c.6175+642G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450129 | ||||||
| chr8:109450305
|
G | T | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.6176-670G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450305 | ||||||
| chr8:109450466
|
C | T | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.6176-509C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450466 | ||||||
| chr8:109450493
|
G | A | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.6176-482G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450493 | ||||||
| chr8:109450586
|
C | T | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.6176-389C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450586 | ||||||
| chr8:109450600
|
T | C | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.6176-375T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450600 | ||||||
| chr8:109450818
|
T | A | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.6176-157T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 40/77 | chr8 | 109450818 | ||||||
| chr8:109451291
|
A | G | 1 | a0015c0042t0016g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6350+142A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451291 | ||||||
| chr8:109451455
|
T | C | 1 | a0001c0001t0002g0226 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.6350+306T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451455 | ||||||
| chr8:109451629
|
A | G | 97 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(94): Show | 98 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.6350+480A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451629 | ||||||
| chr8:109451680
|
A | G | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6351-444A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451680 | ||||||
| chr8:109451903
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6351-221G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451903 | ||||||
| chr8:109451952
|
A | C | 1 | a0041c0068t0001g0039 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.6351-172A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109451952 | ||||||
| chr8:109452024
|
A | AT | 6 | a0011c0011t0008g0110a0017c0017t0004g0273a0017c0017t0004g0274others(3): Show | 6 | HG01109.hp1 HG01891.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.6351-90dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | INFO_REALIGN_3_PRIME | chr8 | 109452024 | |||||
| chr8:109452057
|
G | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6351-67G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109452057 | ||||||
| chr8:109452104
|
G | A | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.6351-20G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 41/77 | chr8 | 109452104 | ||||||
| chr8:109452325
|
G | A | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.6507+45G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452325 | ||||||
| chr8:109452347
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.6507+67T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452347 | ||||||
| chr8:109452467
|
G | T | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.6507+187G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452467 | ||||||
| chr8:109452546
|
A | G | 3 | a0012c0009t0004g0152a0051c0060t0005g0035a0069c0028t0001g0141 | 3 | HG02559.hp2 HG02896.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.6508-172A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452546 | ||||||
| chr8:109452571
|
T | G | 5 | a0001c0001t0002g0204a0001c0001t0002g0206a0001c0001t0002g0216others(2): Show | 5 | HG01099.hp2 HG01192.hp1 HG01433.hp2 others(2): Show |
intron_variant | MODIFIER | c.6508-147T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452571 | ||||||
| chr8:109452594
|
T | G | 1 | a0002c0002t0001g0078 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.6508-124T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452594 | ||||||
| chr8:109452660
|
C | T | 3 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155 | 5 | HG02683.hp2 HG03239.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.6508-58C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 42/77 | chr8 | 109452660 | ||||||
| chr8:109452889
|
A | G | 8 | a0008c0007t0006g0011a0008c0007t0006g0013a0008c0007t0006g0018others(5): Show | 8 | HG01167.hp2 HG02257.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.6664+15A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109452889 | ||||||
| chr8:109452955
|
T | A | 1 | a0055c0038t0031g0154 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.6664+81T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109452955 | ||||||
| chr8:109453024
|
A | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6664+150A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453024 | ||||||
| chr8:109453051
|
A | G | 1 | a0004c0004t0001g0241 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.6664+177A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453051 | ||||||
| chr8:109453163
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6664+289G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453163 | ||||||
| chr8:109453163
|
G | T | 13 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.6664+289G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453163 | ||||||
| chr8:109453216
|
C | T | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.6664+342C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453216 | ||||||
| chr8:109453252
|
T | G | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.6664+378T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453252 | ||||||
| chr8:109453454
|
G | A | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.6664+580G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453454 | ||||||
| chr8:109453651
|
C | T | 1 | a0001c0001t0002g0234 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.6665-516C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453651 | ||||||
| chr8:109453731
|
G | A | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.6665-436G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453731 | ||||||
| chr8:109453791
|
A | C | 144 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(141): Show | 147 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.6665-376A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453791 | ||||||
| chr8:109453856
|
G | T | 168 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(165): Show | 171 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(168): Show |
intron_variant | MODIFIER | c.6665-311G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 43/77 | chr8 | 109453856 | ||||||
| chr8:109454259
|
A | T | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.6744+13A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/77 | chr8 | 109454259 | ||||||
| chr8:109454310
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.6744+64A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/77 | chr8 | 109454310 | ||||||
| chr8:109454422
|
G | A | 1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6744+176G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/77 | chr8 | 109454422 | ||||||
| chr8:109454531
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.6745-192A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 44/77 | chr8 | 109454531 | ||||||
| chr8:109454898
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.6874+46C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109454898 | ||||||
| chr8:109455187
|
A | G | 2 | a0017c0017t0004g0273a0017c0017t0004g0274 | 2 | HG01109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.6874+335A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455187 | ||||||
| chr8:109455267
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6874+415G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455267 | ||||||
| chr8:109455293
|
A | G | 191 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(188): Show | 194 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(191): Show |
intron_variant | MODIFIER | c.6874+441A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455293 | ||||||
| chr8:109455473
|
G | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.6874+621G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455473 | ||||||
| chr8:109455491
|
C | T | 23 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(20): Show | 23 | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(20): Show |
intron_variant | MODIFIER | c.6874+639C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455491 | ||||||
| chr8:109455499
|
C | G | 18 | a0004c0004t0001g0196a0004c0004t0001g0197a0004c0004t0001g0238others(15): Show | 18 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(15): Show |
intron_variant | MODIFIER | c.6874+647C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455499 | ||||||
| chr8:109455585
|
G | T | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6875-677G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455585 | ||||||
| chr8:109455651
|
A | G | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.6875-611A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455651 | ||||||
| chr8:109455671
|
A | AGT | 4 | a0001c0001t0007g0261a0001c0001t0007g0262a0001c0001t0007g0267others(1): Show | 4 | HG01261.hp2 HG02258.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.6875-590_6875-589d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | INFO_REALIGN_3_PRIME | chr8 | 109455671 | |||||
| chr8:109455947
|
G | A | 1 | a0018c0021t0038g0245 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.6875-315G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109455947 | ||||||
| chr8:109456027
|
G | T | 1 | a0004c0004t0001g0248 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.6875-235G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109456027 | ||||||
| chr8:109456227
|
T | G | 1 | a0032c0056t0004g0257 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6875-35T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 45/77 | chr8 | 109456227 | ||||||
| chr8:109456446
|
G | A | 1 | a0003c0003t0003g0166 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.7004+55G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456446 | ||||||
| chr8:109456535
|
T | G | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.7004+144T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456535 | ||||||
| chr8:109456642
|
T | G | 1 | a0008c0007t0006g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7004+251T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456642 | ||||||
| chr8:109456687
|
T | C | 1 | a0058c0074t0013g0024 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7004+296T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456687 | ||||||
| chr8:109456706
|
G | A | 16 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(13): Show | 16 | HG01109.hp1 HG01891.hp2 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.7004+315G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456706 | ||||||
| chr8:109456855
|
T | C | 2 | a0003c0003t0003g0165a0003c0015t0003g0133 | 2 | HG00140.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.7004+464T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456855 | ||||||
| chr8:109456934
|
A | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7004+543A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109456934 | ||||||
| chr8:109457263
|
C | T | 1 | a0002c0002t0001g0051 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.7004+872C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457263 | ||||||
| chr8:109457353
|
T | C | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.7004+962T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457353 | ||||||
| chr8:109457389
|
T | C | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7004+998T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457389 | ||||||
| chr8:109457440
|
G | C | 1 | a0001c0020t0002g0253 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.7004+1049G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457440 | ||||||
| chr8:109457813
|
C | T | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.7004+1422C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457813 | ||||||
| chr8:109457815
|
TCTTTTCT others(7): Show |
T | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.7004+1425_7004+143 others(18): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457815 | ||||||
| chr8:109457832
|
A | C | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.7004+1441A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457832 | ||||||
| chr8:109457833
|
T | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.7004+1442T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457833 | ||||||
| chr8:109457834
|
T | G | 1 | a0001c0001t0002g0265 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.7004+1443T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457834 | ||||||
| chr8:109457892
|
C | T | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7004+1501C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457892 | ||||||
| chr8:109457922
|
C | T | 1 | a0002c0002t0001g0068 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.7004+1531C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457922 | ||||||
| chr8:109457955
|
C | A | 12 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(9): Show | 12 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.7004+1564C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109457955 | ||||||
| chr8:109458015
|
A | G | 3 | a0001c0001t0002g0183a0001c0001t0002g0208a0001c0001t0002g0209 | 3 | NA18951.hp1 NA18999.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.7005-1580A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458015 | ||||||
| chr8:109458068
|
T | G | 144 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(141): Show | 147 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.7005-1527T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458068 | ||||||
| chr8:109458129
|
T | C | 23 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(20): Show | 23 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.7005-1466T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458129 | ||||||
| chr8:109458233
|
T | C | 1 | a0004c0004t0001g0249 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.7005-1362T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458233 | ||||||
| chr8:109458344
|
C | T | 1 | a0001c0001t0002g0229 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.7005-1251C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458344 | ||||||
| chr8:109458398
|
A | C | 1 | a0004c0050t0040g0247 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.7005-1197A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458398 | ||||||
| chr8:109458420
|
C | CT | 149 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(146): Show | 152 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.7005-1175_7005-117 others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458420 | ||||||
| chr8:109458482
|
G | C | 149 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(146): Show | 152 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.7005-1113G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458482 | ||||||
| chr8:109458488
|
C | T | 1 | a0004c0004t0001g0241 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.7005-1107C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458488 | ||||||
| chr8:109458549
|
C | A | 1 | a0052c0039t0015g0004 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.7005-1046C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458549 | ||||||
| chr8:109458552
|
T | G | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.7005-1043T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458552 | ||||||
| chr8:109458654
|
A | G | 174 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(171): Show | 177 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show |
intron_variant | MODIFIER | c.7005-941A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458654 | ||||||
| chr8:109458719
|
G | A | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.7005-876G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458719 | ||||||
| chr8:109458827
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7005-768G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458827 | ||||||
| chr8:109458855
|
C | A | 131 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(128): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.7005-740C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458855 | ||||||
| chr8:109458901
|
A | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7005-694A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458901 | ||||||
| chr8:109458990
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.7005-605G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109458990 | ||||||
| chr8:109459195
|
C | T | 174 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(171): Show | 177 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show |
intron_variant | MODIFIER | c.7005-400C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109459195 | ||||||
| chr8:109459291
|
A | G | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.7005-304A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109459291 | ||||||
| chr8:109459428
|
C | A | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.7005-167C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109459428 | ||||||
| chr8:109459444
|
AT | A | 131 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(128): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.7005-145delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | INFO_REALIGN_3_PRIME | chr8 | 109459444 | |||||
| chr8:109459468
|
T | C | 1 | a0001c0001t0002g0199 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.7005-127T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109459468 | ||||||
| chr8:109459533
|
C | T | 1 | a0002c0002t0001g0078 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.7005-62C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | chr8 | 109459533 | ||||||
| chr8:109459567
|
TA | T | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7005-24delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 46/77 | INFO_REALIGN_3_PRIME | chr8 | 109459567 | |||||
| chr8:109459837
|
G | C | 17 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(14): Show | 17 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(14): Show |
splice_donor_variant&intron_variant | HIGH | c.7246+1G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109459837 | ||||||
| chr8:109459852
|
C | G | 1 | a0008c0007t0006g0018 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.7246+16C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109459852 | ||||||
| chr8:109459932
|
T | C | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.7246+96T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109459932 | ||||||
| chr8:109460069
|
G | T | 2 | a0017c0017t0004g0273a0017c0017t0004g0274 | 2 | HG01109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.7246+233G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460069 | ||||||
| chr8:109460131
|
T | A | 1 | a0066c0079t0001g0098 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.7246+295T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460131 | ||||||
| chr8:109460325
|
G | A | 7 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(4): Show | 7 | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.7246+489G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460325 | ||||||
| chr8:109460434
|
A | G | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7246+598A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460434 | ||||||
| chr8:109460469
|
G | T | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.7246+633G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460469 | ||||||
| chr8:109460649
|
C | A | 6 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0025g0246others(3): Show | 6 | HG00733.hp2 HG01109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.7246+813C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460649 | ||||||
| chr8:109460751
|
A | G | 1 | a0001c0001t0002g0234 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.7246+915A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460751 | ||||||
| chr8:109460779
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7246+943G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460779 | ||||||
| chr8:109460860
|
C | T | 1 | a0001c0001t0010g0194 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.7247-912C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109460860 | ||||||
| chr8:109461154
|
T | A | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7247-618T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461154 | ||||||
| chr8:109461418
|
G | A | 2 | a0001c0001t0002g0225a0001c0001t0002g0227 | 2 | NA18981.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.7247-354G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461418 | ||||||
| chr8:109461476
|
C | T | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.7247-296C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461476 | ||||||
| chr8:109461572
|
G | A | 5 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(2): Show | 5 | HG01109.hp1 HG02630.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.7247-200G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461572 | ||||||
| chr8:109461678
|
T | C | 201 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(198): Show | 204 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
intron_variant | MODIFIER | c.7247-94T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461678 | ||||||
| chr8:109461687
|
A | G | 18 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(15): Show | 18 | HG00733.hp2 HG01109.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.7247-85A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461687 | ||||||
| chr8:109461700
|
G | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.7247-72G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461700 | ||||||
| chr8:109461736
|
A | AT | 103 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(100): Show | 104 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(101): Show |
intron_variant | MODIFIER | c.7247-36_7247-35ins others(1): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461736 | ||||||
| chr8:109461736
|
A | T | 29 | a0001c0001t0002g0218a0003c0003t0003g0001a0003c0003t0003g0153others(26): Show | 31 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(28): Show |
intron_variant | MODIFIER | c.7247-36A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461736 | ||||||
| chr8:109461737
|
A | T | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7247-35A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | 109461737 | ||||||
| chr8:109461977
|
C | G | 6 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0262others(3): Show | 6 | HG01261.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.7383+69C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109461977 | ||||||
| chr8:109462143
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7383+235G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462143 | ||||||
| chr8:109462149
|
A | T | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.7383+241A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462149 | ||||||
| chr8:109462236
|
C | G | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.7383+328C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462236 | ||||||
| chr8:109462254
|
C | T | 1 | a0016c0013t0012g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7383+346C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462254 | ||||||
| chr8:109462354
|
T | C | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7383+446T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462354 | ||||||
| chr8:109462420
|
C | T | 1 | a0005c0005t0005g0145 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7383+512C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462420 | ||||||
| chr8:109462421
|
G | C | 144 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(141): Show | 147 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.7383+513G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462421 | ||||||
| chr8:109462421
|
G | T | 6 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0262others(3): Show | 6 | HG01261.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.7383+513G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462421 | ||||||
| chr8:109462502
|
C | T | 1 | a0005c0005t0005g0144 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.7383+594C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462502 | ||||||
| chr8:109462514
|
A | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7383+606A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462514 | ||||||
| chr8:109462526
|
C | G | 1 | a0020c0022t0004g0122 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.7383+618C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462526 | ||||||
| chr8:109462785
|
A | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7383+877A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462785 | ||||||
| chr8:109462874
|
C | G | 99 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(96): Show | 100 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(97): Show |
intron_variant | MODIFIER | c.7383+966C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462874 | ||||||
| chr8:109462999
|
A | G | 1 | a0001c0001t0002g0219 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.7383+1091A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109462999 | ||||||
| chr8:109463026
|
C | G | 1 | a0051c0060t0005g0035 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.7383+1118C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463026 | ||||||
| chr8:109463143
|
T | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7384-1073T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463143 | ||||||
| chr8:109463264
|
T | C | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.7384-952T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463264 | ||||||
| chr8:109463347
|
T | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7384-869T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463347 | ||||||
| chr8:109463429
|
C | CTAAG | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7384-786_7384-785i others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | INFO_REALIGN_3_PRIME | chr8 | 109463429 | |||||
| chr8:109463457
|
G | C | 17 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(14): Show | 17 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.7384-759G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463457 | ||||||
| chr8:109463476
|
T | A | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.7384-740T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463476 | ||||||
| chr8:109463515
|
C | T | 18 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(15): Show | 18 | HG00733.hp2 HG01109.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.7384-701C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463515 | ||||||
| chr8:109463555
|
C | T | 1 | a0003c0003t0003g0153 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.7384-661C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463555 | ||||||
| chr8:109463566
|
G | A | 1 | a0001c0001t0011g0254 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.7384-650G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463566 | ||||||
| chr8:109463571
|
TAC | T | 6 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0025g0246others(3): Show | 6 | HG00733.hp2 HG01109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.7384-633_7384-632d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | INFO_REALIGN_3_PRIME | chr8 | 109463571 | |||||
| chr8:109463645
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7384-571G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463645 | ||||||
| chr8:109463762
|
A | G | 171 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(168): Show | 174 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.7384-454A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463762 | ||||||
| chr8:109463829
|
A | G | 5 | a0017c0017t0004g0273a0017c0017t0004g0274a0048c0035t0033g0160others(2): Show | 5 | HG01109.hp1 HG02630.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.7384-387A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463829 | ||||||
| chr8:109463881
|
A | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.7384-335A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109463881 | ||||||
| chr8:109464112
|
AAATAT | A | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.7384-102_7384-98de others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | INFO_REALIGN_3_PRIME | chr8 | 109464112 | |||||
| chr8:109464213
|
C | T | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
splice_region_variant&intron_variant | LOW | c.7384-3C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 48/77 | chr8 | 109464213 | ||||||
| chr8:109465432
|
A | G | 1 | a0002c0002t0001g0100 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.8413+187A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465432 | ||||||
| chr8:109465483
|
T | C | 1 | a0001c0001t0002g0270 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.8413+238T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465483 | ||||||
| chr8:109465553
|
A | G | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.8413+308A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465553 | ||||||
| chr8:109465595
|
A | T | 131 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(128): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.8413+350A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465595 | ||||||
| chr8:109465707
|
C | T | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8413+462C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465707 | ||||||
| chr8:109465992
|
A | C | 1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.8414-586A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109465992 | ||||||
| chr8:109466038
|
T | C | 1 | a0002c0002t0001g0099 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.8414-540T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466038 | ||||||
| chr8:109466128
|
G | A | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.8414-450G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466128 | ||||||
| chr8:109466245
|
C | T | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8414-333C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466245 | ||||||
| chr8:109466314
|
C | T | 1 | a0001c0001t0002g0198 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.8414-264C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466314 | ||||||
| chr8:109466337
|
T | G | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.8414-241T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466337 | ||||||
| chr8:109466432
|
C | T | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8414-146C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 49/77 | chr8 | 109466432 | ||||||
| chr8:109466862
|
AC | A | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.8605+94delC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109466862 | ||||||
| chr8:109466925
|
T | C | 1 | a0004c0004t0001g0278 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.8605+156T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109466925 | ||||||
| chr8:109466953
|
C | T | 12 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(9): Show | 12 | HG01891.hp2 HG01934.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.8605+184C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109466953 | ||||||
| chr8:109466963
|
C | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.8605+194C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109466963 | ||||||
| chr8:109467020
|
G | A | 1 | a0003c0015t0017g0112 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.8605+251G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467020 | ||||||
| chr8:109467182
|
G | A | 2 | a0001c0001t0002g0198a0019c0019t0004g0180 | 2 | HG01243.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.8605+413G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467182 | ||||||
| chr8:109467392
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8605+623G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467392 | ||||||
| chr8:109467399
|
T | C | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.8605+630T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467399 | ||||||
| chr8:109467401
|
C | T | 1 | a0039c0071t0039g0083 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.8605+632C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467401 | ||||||
| chr8:109467409
|
T | C | 1 | a0021c0026t0013g0130 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.8605+640T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467409 | ||||||
| chr8:109467430
|
T | G | 7 | a0002c0002t0001g0061a0002c0002t0001g0063a0002c0002t0001g0068others(4): Show | 7 | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(4): Show |
intron_variant | MODIFIER | c.8605+661T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467430 | ||||||
| chr8:109467481
|
A | G | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.8605+712A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467481 | ||||||
| chr8:109467489
|
T | C | 1 | a0001c0001t0002g0218 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.8605+720T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467489 | ||||||
| chr8:109467671
|
T | G | 1 | a0016c0013t0012g0136 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.8605+902T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467671 | ||||||
| chr8:109467764
|
A | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.8605+995A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109467764 | ||||||
| chr8:109467861
|
G | GA | 25 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(22): Show | 27 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
intron_variant | MODIFIER | c.8605+1096dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109467861 | |||||
| chr8:109468050
|
A | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+1281A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468050 | ||||||
| chr8:109468320
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.8605+1551C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468320 | ||||||
| chr8:109468350
|
A | G | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8605+1581A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468350 | ||||||
| chr8:109468535
|
A | C | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8605+1766A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468535 | ||||||
| chr8:109468607
|
G | A | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.8605+1838G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468607 | ||||||
| chr8:109468679
|
C | G | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.8605+1910C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468679 | ||||||
| chr8:109468683
|
C | A | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.8605+1914C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468683 | ||||||
| chr8:109468939
|
G | A | 2 | a0021c0026t0013g0130a0021c0026t0013g0131 | 2 | HG00741.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.8605+2170G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109468939 | ||||||
| chr8:109469193
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.8605+2424G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469193 | ||||||
| chr8:109469340
|
G | T | 1 | a0001c0001t0002g0256 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.8605+2571G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469340 | ||||||
| chr8:109469343
|
T | C | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.8605+2574T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469343 | ||||||
| chr8:109469434
|
A | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.8605+2665A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469434 | ||||||
| chr8:109469538
|
G | T | 18 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(15): Show | 18 | HG00733.hp2 HG01109.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.8605+2769G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469538 | ||||||
| chr8:109469592
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+2823C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469592 | ||||||
| chr8:109469618
|
A | T | 2 | a0026c0016t0008g0139a0026c0016t0008g0140 | 2 | HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.8605+2849A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469618 | ||||||
| chr8:109469727
|
C | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+2958C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469727 | ||||||
| chr8:109469792
|
T | C | 1 | a0024c0023t0004g0123 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.8605+3023T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469792 | ||||||
| chr8:109469795
|
T | C | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.8605+3026T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469795 | ||||||
| chr8:109469960
|
T | C | 1 | a0004c0050t0040g0247 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.8605+3191T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109469960 | ||||||
| chr8:109470054
|
A | G | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.8605+3285A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470054 | ||||||
| chr8:109470153
|
A | G | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8605+3384A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470153 | ||||||
| chr8:109470232
|
G | A | 1 | a0007c0008t0020g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.8605+3463G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470232 | ||||||
| chr8:109470283
|
T | C | 1 | a0022c0025t0032g0124 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.8605+3514T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470283 | ||||||
| chr8:109470387
|
C | T | 1 | a0002c0002t0001g0100 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.8605+3618C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470387 | ||||||
| chr8:109470520
|
G | A | 1 | a0001c0001t0002g0256 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.8605+3751G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470520 | ||||||
| chr8:109470541
|
T | G | 5 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.8605+3772T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470541 | ||||||
| chr8:109470643
|
GAA | G | 131 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(128): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.8605+3877_8605+387 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109470643 | |||||
| chr8:109470649
|
T | C | 2 | a0005c0005t0005g0144a0005c0005t0005g0145 | 2 | HG03540.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.8605+3880T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470649 | ||||||
| chr8:109470671
|
T | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8605+3902T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470671 | ||||||
| chr8:109470709
|
A | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+3940A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470709 | ||||||
| chr8:109470732
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+3963C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470732 | ||||||
| chr8:109470813
|
T | A | 1 | a0002c0002t0001g0100 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.8605+4044T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470813 | ||||||
| chr8:109470840
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8605+4071G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470840 | ||||||
| chr8:109470852
|
T | C | 1 | a0002c0002t0001g0100 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.8605+4083T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470852 | ||||||
| chr8:109470930
|
G | C | 1 | a0001c0001t0010g0191 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.8605+4161G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109470930 | ||||||
| chr8:109471067
|
T | A | 18 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(15): Show | 18 | HG00733.hp2 HG01109.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.8606-4051T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471067 | ||||||
| chr8:109471069
|
C | T | 1 | a0001c0001t0002g0219 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.8606-4049C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471069 | ||||||
| chr8:109471199
|
T | C | 2 | a0017c0017t0004g0273a0017c0017t0004g0274 | 2 | HG01109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.8606-3919T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471199 | ||||||
| chr8:109471477
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8606-3641G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471477 | ||||||
| chr8:109471616
|
C | A | 171 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(168): Show | 174 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.8606-3502C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471616 | ||||||
| chr8:109471631
|
G | A | 2 | a0020c0022t0004g0121a0020c0022t0004g0122 | 2 | HG01934.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.8606-3487G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471631 | ||||||
| chr8:109471714
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8606-3404G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471714 | ||||||
| chr8:109471726
|
C | T | 127 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(124): Show | 130 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.8606-3392C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471726 | ||||||
| chr8:109471975
|
C | T | 1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.8606-3143C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109471975 | ||||||
| chr8:109472085
|
A | AT | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8606-3027dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109472085 | |||||
| chr8:109472091
|
T | A | 1 | a0038c0066t0001g0054 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.8606-3027T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472091 | ||||||
| chr8:109472092
|
A | T | 1 | a0071c0083t0001g0056 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.8606-3026A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472092 | ||||||
| chr8:109472116
|
C | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8606-3002C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472116 | ||||||
| chr8:109472253
|
TA | T | 10 | a0001c0001t0002g0183a0001c0001t0002g0208a0001c0001t0002g0209others(7): Show | 10 | NA18951.hp1 NA18955.hp1 NA18984.hp2 others(7): Show |
intron_variant | MODIFIER | c.8606-2857delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109472253 | |||||
| chr8:109472288
|
A | G | 18 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(15): Show | 18 | HG00733.hp2 HG01109.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.8606-2830A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472288 | ||||||
| chr8:109472472
|
C | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8606-2646C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472472 | ||||||
| chr8:109472579
|
C | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0062c0062t0026g0044 | 3 | HG02280.hp2 HG02886.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.8606-2539C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472579 | ||||||
| chr8:109472583
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8606-2535G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472583 | ||||||
| chr8:109472637
|
A | T | 96 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(93): Show | 97 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.8606-2481A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472637 | ||||||
| chr8:109472681
|
A | G | 1 | a0001c0001t0010g0269 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.8606-2437A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472681 | ||||||
| chr8:109472715
|
GA | G | 171 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(168): Show | 174 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.8606-2392delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109472715 | |||||
| chr8:109472914
|
C | T | 174 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(171): Show | 177 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show |
intron_variant | MODIFIER | c.8606-2204C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109472914 | ||||||
| chr8:109473040
|
A | G | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.8606-2078A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473040 | ||||||
| chr8:109473155
|
G | T | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.8606-1963G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473155 | ||||||
| chr8:109473240
|
G | A | 1 | a0002c0002t0001g0038 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.8606-1878G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473240 | ||||||
| chr8:109473275
|
G | T | 1 | a0001c0001t0002g0182 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.8606-1843G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473275 | ||||||
| chr8:109473417
|
G | C | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.8606-1701G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473417 | ||||||
| chr8:109473485
|
C | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8606-1633C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473485 | ||||||
| chr8:109473525
|
A | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.8606-1593A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473525 | ||||||
| chr8:109473531
|
GAA | G | 9 | a0003c0003t0003g0170a0003c0003t0003g0171a0003c0003t0003g0174others(6): Show | 9 | HG00639.hp1 HG00741.hp1 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.8606-1584_8606-158 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | INFO_REALIGN_3_PRIME | chr8 | 109473531 | |||||
| chr8:109473555
|
T | C | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.8606-1563T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473555 | ||||||
| chr8:109473668
|
A | G | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.8606-1450A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473668 | ||||||
| chr8:109473989
|
G | A | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8606-1129G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109473989 | ||||||
| chr8:109474398
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.8606-720A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474398 | ||||||
| chr8:109474410
|
C | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8606-708C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474410 | ||||||
| chr8:109474462
|
A | C | 1 | a0002c0002t0001g0126 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.8606-656A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474462 | ||||||
| chr8:109474537
|
T | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.8606-581T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474537 | ||||||
| chr8:109474776
|
T | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8606-342T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474776 | ||||||
| chr8:109474923
|
C | T | 1 | a0066c0079t0001g0098 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.8606-195C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109474923 | ||||||
| chr8:109475024
|
C | G | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.8606-94C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 50/77 | chr8 | 109475024 | ||||||
| chr8:109475283
|
T | A | 16 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(13): Show | 16 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.8757+14T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475283 | ||||||
| chr8:109475445
|
T | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.8757+176T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475445 | ||||||
| chr8:109475468
|
G | A | 4 | a0002c0002t0013g0113a0021c0026t0013g0130a0021c0026t0013g0131others(1): Show | 4 | HG00741.hp2 HG02145.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.8757+199G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475468 | ||||||
| chr8:109475575
|
G | C | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8757+306G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475575 | ||||||
| chr8:109475682
|
CA | C | 20 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(17): Show | 20 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.8757+426delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475682 | |||||
| chr8:109475695
|
A | T | 1 | a0001c0001t0011g0254 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.8757+426A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475695 | ||||||
| chr8:109475771
|
C | A | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.8757+502C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475771 | ||||||
| chr8:109475773
|
A | C | 5 | a0007c0008t0001g0090a0007c0008t0019g0089a0007c0008t0019g0091others(2): Show | 5 | HG01243.hp1 HG02895.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.8757+504A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475773 | ||||||
| chr8:109475826
|
C | T | 8 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(5): Show | 8 | HG00733.hp2 HG01109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.8757+557C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109475826 | ||||||
| chr8:109475847
|
C | CA | 8 | a0002c0002t0001g0037a0002c0002t0001g0066a0002c0002t0044g0060others(5): Show | 8 | HG00544.hp1 HG02145.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.8757+594dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475847 | |||||
| chr8:109475847
|
C | CAA | 111 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(108): Show | 114 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.8757+593_8757+594d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475847 | |||||
| chr8:109475847
|
C | CAAA | 20 | a0001c0001t0002g0187a0012c0009t0004g0143a0012c0009t0004g0146others(17): Show | 20 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.8757+592_8757+594d others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475847 | |||||
| chr8:109475847
|
CA | C | 6 | a0002c0002t0013g0113a0005c0047t0005g0258a0021c0026t0013g0130others(3): Show | 6 | HG00741.hp2 HG01257.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.8757+594delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475847 | |||||
| chr8:109475921
|
T | TA | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.8758-580dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109475921 | |||||
| chr8:109476174
|
A | G | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.8758-334A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109476174 | ||||||
| chr8:109476196
|
C | T | 1 | a0001c0001t0007g0262 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.8758-312C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109476196 | ||||||
| chr8:109476214
|
C | CAT | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.8758-282_8758-281d others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109476214 | |||||
| chr8:109476282
|
GGAGA | G | 20 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(17): Show | 20 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.8758-215_8758-212d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | INFO_REALIGN_3_PRIME | chr8 | 109476282 | |||||
| chr8:109476287
|
G | A | 11 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(8): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.8758-221G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109476287 | ||||||
| chr8:109476351
|
G | A | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.8758-157G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109476351 | ||||||
| chr8:109476375
|
A | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.8758-133A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 51/77 | chr8 | 109476375 | ||||||
| chr8:109476744
|
A | G | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8917+77A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109476744 | ||||||
| chr8:109476775
|
T | C | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.8917+108T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109476775 | ||||||
| chr8:109476797
|
GA | G | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.8917+135delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | INFO_REALIGN_3_PRIME | chr8 | 109476797 | |||||
| chr8:109476802
|
A | C | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.8917+135A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109476802 | ||||||
| chr8:109476926
|
A | G | 1 | a0001c0001t0002g0182 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.8917+259A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109476926 | ||||||
| chr8:109477051
|
C | T | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.8918-174C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109477051 | ||||||
| chr8:109477082
|
G | T | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8918-143G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109477082 | ||||||
| chr8:109477189
|
C | A | 6 | a0020c0022t0004g0121a0020c0022t0004g0122a0022c0025t0004g0114others(3): Show | 6 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.8918-36C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 52/77 | chr8 | 109477189 | ||||||
| chr8:109477561
|
G | A | 8 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(5): Show | 8 | HG00733.hp2 HG01109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.9089+165G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477561 | ||||||
| chr8:109477577
|
G | A | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0032c0056t0004g0257 | 3 | HG01109.hp1 HG02976.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.9089+181G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477577 | ||||||
| chr8:109477623
|
C | G | 1 | a0004c0004t0001g0196 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.9089+227C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477623 | ||||||
| chr8:109477694
|
G | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9089+298G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477694 | ||||||
| chr8:109477731
|
C | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9089+335C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477731 | ||||||
| chr8:109477773
|
G | A | 1 | a0001c0049t0002g0252 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.9089+377G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477773 | ||||||
| chr8:109477797
|
G | T | 1 | a0004c0004t0001g0240 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.9089+401G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477797 | ||||||
| chr8:109477913
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9089+517C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109477913 | ||||||
| chr8:109478768
|
G | A | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.9090-783G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109478768 | ||||||
| chr8:109479012
|
C | A | 1 | a0001c0001t0002g0219 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.9090-539C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109479012 | ||||||
| chr8:109479175
|
T | C | 1 | a0005c0005t0005g0142 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9090-376T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109479175 | ||||||
| chr8:109479432
|
A | AT | 154 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(151): Show | 157 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(154): Show |
intron_variant | MODIFIER | c.9090-111dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | INFO_REALIGN_3_PRIME | chr8 | 109479432 | |||||
| chr8:109479486
|
T | A | 1 | a0006c0006t0009g0031 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.9090-65T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109479486 | ||||||
| chr8:109479502
|
G | A | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0032c0056t0004g0257 | 3 | HG01109.hp1 HG02976.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.9090-49G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 53/77 | chr8 | 109479502 | ||||||
| chr8:109479648
|
G | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9178+9G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/77 | chr8 | 109479648 | ||||||
| chr8:109479734
|
C | T | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.9178+95C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/77 | chr8 | 109479734 | ||||||
| chr8:109479735
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9178+96A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/77 | chr8 | 109479735 | ||||||
| chr8:109479962
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9179-29G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/77 | chr8 | 109479962 | ||||||
| chr8:109479968
|
T | C | 3 | a0031c0054t0003g0203a0064c0034t0003g0168a0070c0045t0003g0167 | 3 | HG03239.hp1 HG04115.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.9179-23T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 54/77 | chr8 | 109479968 | ||||||
| chr8:109480146
|
G | T | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
splice_region_variant&intron_variant | LOW | c.9327+7G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480146 | ||||||
| chr8:109480199
|
A | T | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.9327+60A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480199 | ||||||
| chr8:109480253
|
G | C | 1 | a0004c0004t0001g0248 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.9327+114G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480253 | ||||||
| chr8:109480261
|
C | A | 1 | a0032c0056t0004g0257 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.9327+122C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480261 | ||||||
| chr8:109480263
|
A | G | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.9327+124A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480263 | ||||||
| chr8:109480525
|
C | A | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.9327+386C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480525 | ||||||
| chr8:109480527
|
A | T | 1 | a0002c0002t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.9327+388A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480527 | ||||||
| chr8:109480720
|
G | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9327+581G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480720 | ||||||
| chr8:109480842
|
G | T | 6 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.9328-591G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480842 | ||||||
| chr8:109480959
|
C | T | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.9328-474C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109480959 | ||||||
| chr8:109481164
|
T | C | 1 | a0001c0001t0002g0188 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.9328-269T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109481164 | ||||||
| chr8:109481398
|
T | G | 1 | a0041c0068t0001g0039 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.9328-35T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 55/77 | chr8 | 109481398 | ||||||
| chr8:109481592
|
C | G | 1 | a0065c0033t0007g0135 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.9457+30C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481592 | ||||||
| chr8:109481705
|
T | C | 1 | a0024c0023t0004g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.9457+143T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481705 | ||||||
| chr8:109481758
|
T | C | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.9457+196T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481758 | ||||||
| chr8:109481842
|
G | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9457+280G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481842 | ||||||
| chr8:109481869
|
T | C | 1 | a0003c0003t0003g0165 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.9457+307T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481869 | ||||||
| chr8:109481877
|
A | G | 1 | a0004c0004t0001g0249 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.9457+315A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109481877 | ||||||
| chr8:109482111
|
GC | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9457+550delC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482111 | ||||||
| chr8:109482157
|
A | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.9457+595A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482157 | ||||||
| chr8:109482165
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9457+603G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482165 | ||||||
| chr8:109482337
|
T | C | 2 | a0022c0025t0004g0114a0022c0025t0032g0124 | 2 | HG03453.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.9458-650T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482337 | ||||||
| chr8:109482451
|
T | A | 1 | a0001c0001t0007g0262 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.9458-536T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482451 | ||||||
| chr8:109482469
|
A | G | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.9458-518A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482469 | ||||||
| chr8:109482568
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.9458-419G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482568 | ||||||
| chr8:109482635
|
T | C | 51 | a0001c0001t0002g0002a0001c0001t0002g0183a0001c0001t0002g0195others(48): Show | 52 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(49): Show |
intron_variant | MODIFIER | c.9458-352T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482635 | ||||||
| chr8:109482665
|
G | GTATAT | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9458-320_9458-319i others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | INFO_REALIGN_3_PRIME | chr8 | 109482665 | |||||
| chr8:109482724
|
G | C | 2 | a0001c0001t0002g0225a0001c0001t0002g0227 | 2 | NA18981.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.9458-263G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482724 | ||||||
| chr8:109482942
|
C | T | 1 | a0049c0036t0004g0159 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.9458-45C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482942 | ||||||
| chr8:109482963
|
T | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9458-24T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 56/77 | chr8 | 109482963 | ||||||
| chr8:109483533
|
ATATG | A | 112 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(109): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.9576+431_9576+434d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | INFO_REALIGN_3_PRIME | chr8 | 109483533 | |||||
| chr8:109483603
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9576+498A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483603 | ||||||
| chr8:109483636
|
A | T | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.9576+531A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483636 | ||||||
| chr8:109483641
|
A | G | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.9576+536A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483641 | ||||||
| chr8:109483664
|
A | C | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.9576+559A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483664 | ||||||
| chr8:109483753
|
C | G | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.9576+648C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483753 | ||||||
| chr8:109483825
|
C | T | 1 | a0004c0004t0001g0266 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.9576+720C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483825 | ||||||
| chr8:109483928
|
T | C | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.9576+823T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483928 | ||||||
| chr8:109483939
|
G | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9576+834G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483939 | ||||||
| chr8:109483983
|
T | C | 1 | a0002c0002t0001g0048 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.9576+878T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109483983 | ||||||
| chr8:109484029
|
C | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9576+924C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484029 | ||||||
| chr8:109484099
|
A | G | 2 | a0004c0004t0001g0244a0004c0004t0001g0251 | 2 | HG01175.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.9577-945A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484099 | ||||||
| chr8:109484106
|
A | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9577-938A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484106 | ||||||
| chr8:109484110
|
T | G | 175 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(172): Show | 178 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(175): Show |
intron_variant | MODIFIER | c.9577-934T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484110 | ||||||
| chr8:109484185
|
A | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9577-859A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484185 | ||||||
| chr8:109484254
|
C | G | 3 | a0017c0017t0004g0273a0017c0017t0004g0274a0032c0056t0004g0257 | 3 | HG01109.hp1 HG02976.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.9577-790C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484254 | ||||||
| chr8:109484353
|
G | T | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.9577-691G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484353 | ||||||
| chr8:109484376
|
T | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.9577-668T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484376 | ||||||
| chr8:109484381
|
C | T | 1 | a0001c0001t0002g0221 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.9577-663C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484381 | ||||||
| chr8:109484732
|
C | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9577-312C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484732 | ||||||
| chr8:109484753
|
A | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9577-291A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484753 | ||||||
| chr8:109484753
|
A | G | 45 | a0002c0002t0013g0113a0005c0005t0005g0142a0005c0005t0005g0144others(42): Show | 45 | HG00741.hp2 HG01074.hp2 HG01167.hp2 others(42): Show |
intron_variant | MODIFIER | c.9577-291A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484753 | ||||||
| chr8:109484890
|
C | T | 3 | a0001c0001t0002g0222a0001c0020t0002g0231a0001c0020t0002g0253 | 3 | NA19068.hp2 NA19080.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.9577-154C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 57/77 | chr8 | 109484890 | ||||||
| chr8:109485352
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.9706+179G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109485352 | ||||||
| chr8:109485484
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9706+311C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109485484 | ||||||
| chr8:109485721
|
A | T | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.9706+548A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109485721 | ||||||
| chr8:109485743
|
A | T | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.9706+570A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109485743 | ||||||
| chr8:109485783
|
A | G | 1 | a0006c0006t0009g0033 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.9706+610A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109485783 | ||||||
| chr8:109486072
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9707-576G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109486072 | ||||||
| chr8:109486114
|
G | T | 2 | a0050c0043t0030g0277a0057c0075t0035g0021 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9707-534G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109486114 | ||||||
| chr8:109486327
|
C | A | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.9707-321C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109486327 | ||||||
| chr8:109486461
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.9707-187C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 58/77 | chr8 | 109486461 | ||||||
| chr8:109486834
|
T | G | 27 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(24): Show | 29 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show |
intron_variant | MODIFIER | c.9880+13T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109486834 | ||||||
| chr8:109486943
|
A | G | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.9880+122A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109486943 | ||||||
| chr8:109487100
|
T | C | 1 | a0002c0002t0001g0063 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.9880+279T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487100 | ||||||
| chr8:109487115
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9880+294A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487115 | ||||||
| chr8:109487172
|
A | C | 1 | a0031c0054t0003g0203 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.9880+351A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487172 | ||||||
| chr8:109487192
|
A | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.9880+371A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487192 | ||||||
| chr8:109487282
|
G | A | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.9880+461G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487282 | ||||||
| chr8:109487293
|
G | A | 1 | a0001c0001t0002g0198 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9880+472G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487293 | ||||||
| chr8:109487337
|
T | G | 2 | a0001c0001t0007g0259a0065c0033t0007g0135 | 2 | HG02451.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.9880+516T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487337 | ||||||
| chr8:109487430
|
TCCTC | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9880+629_9880+632d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487430 | |||||
| chr8:109487432
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9880+611C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487432 | ||||||
| chr8:109487518
|
G | A | 1 | a0032c0056t0004g0257 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.9880+697G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487518 | ||||||
| chr8:109487876
|
A | G | 2 | a0003c0003t0003g0164a0003c0003t0003g0166 | 2 | HG03491.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.9880+1055A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487876 | ||||||
| chr8:109487876
|
AAG | A | 7 | a0001c0001t0002g0185a0001c0001t0002g0187a0001c0001t0002g0189others(4): Show | 7 | HG01081.hp1 HG01993.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.9880+1070_9880+107 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487876 | |||||
| chr8:109487885
|
A | G | 2 | a0003c0003t0003g0164a0003c0003t0003g0166 | 2 | HG03491.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.9880+1064A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487885 | ||||||
| chr8:109487886
|
G | A | 2 | a0003c0003t0003g0164a0003c0003t0003g0166 | 2 | HG03491.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.9880+1065G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487886 | ||||||
| chr8:109487888
|
GAGAGGA | G | 3 | a0001c0001t0002g0184a0001c0001t0002g0255a0033c0058t0002g0186 | 3 | HG01175.hp1 HG01516.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.9880+1070_9880+107 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487888 | |||||
| chr8:109487889
|
A | G | 2 | a0003c0003t0003g0164a0003c0003t0003g0166 | 2 | HG03491.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.9880+1068A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487889 | ||||||
| chr8:109487890
|
G | A | 2 | a0003c0003t0003g0164a0003c0003t0003g0166 | 2 | HG03491.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.9880+1069G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GAGGA | 12 | a0002c0002t0001g0051a0002c0002t0001g0061a0002c0002t0001g0079others(9): Show | 12 | HG00423.hp1 HG01074.hp2 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.9880+1119_9880+112 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GAGGAAGG others(1): Show |
52 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(49): Show | 52 | HG00544.hp1 HG01074.hp1 HG01081.hp2 others(49): Show |
intron_variant | MODIFIER | c.9880+1115_9880+112 others(12): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GAGGAAGG others(5): Show |
37 | a0002c0002t0001g0036a0002c0002t0001g0043a0002c0002t0001g0048others(34): Show | 37 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.9880+1111_9880+112 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GAGGAAGG others(9): Show |
16 | a0002c0002t0001g0038a0002c0002t0001g0046a0002c0002t0001g0068others(13): Show | 16 | HG00099.hp1 HG00733.hp1 HG01168.hp1 others(13): Show |
intron_variant | MODIFIER | c.9880+1107_9880+112 others(20): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GAGGAAGG others(13): Show |
3 | a0002c0002t0001g0086a0040c0067t0005g0115a0068c0048t0001g0105 | 3 | HG02615.hp2 HG03710.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.9880+1103_9880+112 others(24): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GAGGAAGG others(17): Show |
2 | a0004c0004t0001g0249a0058c0074t0013g0024 | 2 | HG00642.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9880+1099_9880+112 others(28): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487890 | |||||
| chr8:109487890
|
G | GGA | 18 | a0001c0001t0002g0216a0001c0001t0002g0220a0001c0001t0002g0221others(15): Show | 18 | HG00099.hp2 HG00735.hp1 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGA | 36 | a0001c0001t0002g0182a0001c0001t0002g0198a0001c0001t0002g0199others(33): Show | 36 | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(33): Show |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGAA others(3): Show |
38 | a0001c0001t0002g0183a0001c0001t0002g0188a0001c0001t0002g0195others(35): Show | 40 | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(14): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGAA others(7): Show |
23 | a0001c0001t0002g0002a0001c0001t0002g0206a0001c0001t0002g0218others(20): Show | 24 | HG01106.hp2 HG01109.hp1 HG01168.hp2 others(21): Show |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(18): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGAA others(11): Show |
8 | a0001c0001t0007g0267a0003c0003t0003g0165a0003c0003t0003g0177others(5): Show | 8 | HG00140.hp2 HG01516.hp1 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(22): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGAA others(15): Show |
2 | a0001c0001t0007g0261a0025c0031t0004g0276 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.9880+1069_9880+107 others(26): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487890
|
G | GGAAGGAA others(23): Show |
1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.9880+1069_9880+107 others(34): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487890 | ||||||
| chr8:109487921
|
G | GAAGGAAG others(6): Show |
1 | a0002c0002t0001g0127 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.9880+1102_9880+111 others(17): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487921 | |||||
| chr8:109487932
|
G | C | 1 | a0001c0001t0002g0208 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.9880+1111G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487932 | ||||||
| chr8:109487932
|
GGAAGGAA others(5): Show |
G | 1 | a0021c0026t0013g0130 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.9880+1123_9880+113 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487932 | |||||
| chr8:109487935
|
A | G | 2 | a0001c0001t0002g0187a0001c0001t0002g0263 | 2 | HG02698.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.9880+1114A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487935 | ||||||
| chr8:109487942
|
A | AAGGAAGG others(12): Show |
1 | a0002c0002t0001g0118 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.9880+1122_9880+112 others(23): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109487942 | |||||
| chr8:109487944
|
A | G | 1 | a0021c0026t0013g0131 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.9880+1123A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109487944 | ||||||
| chr8:109488014
|
T | C | 1 | a0004c0004t0001g0278 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.9880+1193T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488014 | ||||||
| chr8:109488035
|
A | G | 1 | a0003c0015t0003g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.9880+1214A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488035 | ||||||
| chr8:109488048
|
C | T | 6 | a0020c0022t0004g0121a0020c0022t0004g0122a0022c0025t0004g0114others(3): Show | 6 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.9880+1227C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488048 | ||||||
| chr8:109488173
|
C | G | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9880+1352C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488173 | ||||||
| chr8:109488192
|
T | A | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.9880+1371T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488192 | ||||||
| chr8:109488274
|
T | G | 1 | a0001c0001t0002g0256 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.9880+1453T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488274 | ||||||
| chr8:109488314
|
T | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9880+1493T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488314 | ||||||
| chr8:109488351
|
T | C | 4 | a0002c0002t0001g0068a0002c0002t0001g0084a0002c0002t0001g0085others(1): Show | 4 | HG00099.hp1 HG00733.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.9880+1530T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488351 | ||||||
| chr8:109488421
|
C | T | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.9881-1531C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488421 | ||||||
| chr8:109488425
|
G | C | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.9881-1527G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488425 | ||||||
| chr8:109488454
|
G | A | 112 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(109): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.9881-1498G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488454 | ||||||
| chr8:109488617
|
C | A | 2 | a0003c0003t0003g0165a0003c0015t0003g0133 | 2 | HG00140.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.9881-1335C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488617 | ||||||
| chr8:109488634
|
G | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.9881-1318G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488634 | ||||||
| chr8:109488683
|
G | A | 5 | a0007c0008t0001g0090a0007c0008t0019g0089a0007c0008t0019g0091others(2): Show | 5 | HG01243.hp1 HG02895.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.9881-1269G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488683 | ||||||
| chr8:109488759
|
T | C | 1 | a0002c0002t0001g0066 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.9881-1193T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488759 | ||||||
| chr8:109488820
|
T | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.9881-1132T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488820 | ||||||
| chr8:109488855
|
T | C | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.9881-1097T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488855 | ||||||
| chr8:109488888
|
GAACA | G | 108 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(105): Show | 111 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.9881-1059_9881-105 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109488888 | |||||
| chr8:109488906
|
A | G | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.9881-1046A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109488906 | ||||||
| chr8:109489025
|
G | T | 6 | a0020c0022t0004g0121a0020c0022t0004g0122a0022c0025t0004g0114others(3): Show | 6 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.9881-927G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109489025 | ||||||
| chr8:109489201
|
TTAAG | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.9881-748_9881-745d others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109489201 | |||||
| chr8:109489270
|
G | GT | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.9881-674dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | 109489270 | |||||
| chr8:109489354
|
T | C | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.9881-598T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109489354 | ||||||
| chr8:109489414
|
G | C | 2 | a0001c0001t0002g0219a0055c0038t0031g0154 | 2 | HG00642.hp2 HG01106.hp2 |
intron_variant | MODIFIER | c.9881-538G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109489414 | ||||||
| chr8:109489538
|
A | C | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.9881-414A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109489538 | ||||||
| chr8:109489541
|
A | T | 2 | a0005c0005t0005g0151a0005c0047t0005g0258 | 2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.9881-411A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | chr8 | 109489541 | ||||||
| chr8:109490238
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.9984+183G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490238 | ||||||
| chr8:109490341
|
C | T | 1 | a0001c0001t0002g0182 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.9984+286C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490341 | ||||||
| chr8:109490501
|
G | A | 1 | a0002c0002t0043g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.9984+446G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490501 | ||||||
| chr8:109490582
|
T | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9985-390T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490582 | ||||||
| chr8:109490750
|
A | G | 1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.9985-222A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490750 | ||||||
| chr8:109490804
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.9985-168T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 60/77 | chr8 | 109490804 | ||||||
| chr8:109491476
|
C | T | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10114+375C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | chr8 | 109491476 | ||||||
| chr8:109491519
|
T | C | 1 | a0002c0002t0001g0051 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.10115-354T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | chr8 | 109491519 | ||||||
| chr8:109491581
|
T | C | 1 | a0042c0082t0001g0070 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.10115-292T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | chr8 | 109491581 | ||||||
| chr8:109491679
|
T | C | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.10115-194T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | chr8 | 109491679 | ||||||
| chr8:109491746
|
T | C | 1 | a0004c0004t0001g0249 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.10115-127T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | chr8 | 109491746 | ||||||
| chr8:109491859
|
CTTT | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
splice_region_variant&intron_variant | LOW | c.10115-9_10115-7del others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 61/77 | INFO_REALIGN_3_PRIME | chr8 | 109491859 | |||||
| chr8:109492114
|
G | A | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.10236+120G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492114 | ||||||
| chr8:109492125
|
A | AT | 21 | a0002c0002t0013g0113a0006c0006t0009g0027a0006c0006t0009g0028others(18): Show | 21 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.10236+144dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | INFO_REALIGN_3_PRIME | chr8 | 109492125 | |||||
| chr8:109492125
|
A | ATT | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10236+143_10236+14 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | INFO_REALIGN_3_PRIME | chr8 | 109492125 | |||||
| chr8:109492126
|
T | TA | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10236+132_10236+13 others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492126 | ||||||
| chr8:109492128
|
T | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10236+134T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492128 | ||||||
| chr8:109492153
|
T | G | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10236+159T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492153 | ||||||
| chr8:109492186
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10236+192C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492186 | ||||||
| chr8:109492300
|
C | A | 1 | a0001c0001t0002g0233 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.10236+306C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492300 | ||||||
| chr8:109492329
|
C | T | 2 | a0064c0034t0003g0168a0070c0045t0003g0167 | 2 | HG03239.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.10236+335C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492329 | ||||||
| chr8:109492356
|
G | A | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10236+362G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492356 | ||||||
| chr8:109492474
|
G | C | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.10236+480G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492474 | ||||||
| chr8:109492637
|
G | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10236+643G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492637 | ||||||
| chr8:109492724
|
G | C | 1 | a0001c0001t0002g0233 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.10236+730G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492724 | ||||||
| chr8:109492792
|
T | A | 1 | a0036c0078t0007g0047 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.10236+798T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492792 | ||||||
| chr8:109492949
|
T | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10237-712T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109492949 | ||||||
| chr8:109493174
|
C | CAT | 16 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(13): Show | 16 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.10237-474_10237-47 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | INFO_REALIGN_3_PRIME | chr8 | 109493174 | |||||
| chr8:109493196
|
G | A | 104 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(101): Show | 105 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(102): Show |
intron_variant | MODIFIER | c.10237-465G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109493196 | ||||||
| chr8:109493236
|
T | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.10237-425T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109493236 | ||||||
| chr8:109493481
|
G | A | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10237-180G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109493481 | ||||||
| chr8:109493657
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
splice_region_variant&intron_variant | LOW | c.10237-4C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 62/77 | chr8 | 109493657 | ||||||
| chr8:109493775
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.10327+24G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109493775 | ||||||
| chr8:109493875
|
T | G | 75 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(72): Show | 76 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(73): Show |
intron_variant | MODIFIER | c.10327+124T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109493875 | ||||||
| chr8:109493977
|
C | T | 11 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(8): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.10327+226C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109493977 | ||||||
| chr8:109494094
|
T | C | 1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.10327+343T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494094 | ||||||
| chr8:109494152
|
T | C | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.10327+401T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494152 | ||||||
| chr8:109494321
|
G | A | 1 | a0028c0057t0001g0181 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.10327+570G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494321 | ||||||
| chr8:109494363
|
C | T | 4 | a0017c0017t0004g0273a0017c0017t0004g0274a0032c0056t0004g0257others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.10327+612C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494363 | ||||||
| chr8:109494429
|
C | T | 161 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(158): Show | 164 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.10327+678C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494429 | ||||||
| chr8:109494458
|
G | T | 1 | a0048c0035t0033g0160 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.10327+707G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494458 | ||||||
| chr8:109494465
|
C | T | 4 | a0020c0022t0004g0121a0020c0022t0004g0122a0024c0023t0004g0123others(1): Show | 4 | HG01934.hp1 HG02293.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.10327+714C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494465 | ||||||
| chr8:109494793
|
C | A | 1 | a0015c0042t0016g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.10327+1042C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494793 | ||||||
| chr8:109494892
|
CAAGAAAT others(3): Show |
C | 1 | a0001c0001t0002g0235 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10327+1158_10327+1 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | INFO_REALIGN_3_PRIME | chr8 | 109494892 | |||||
| chr8:109494947
|
C | T | 5 | a0001c0001t0002g0183a0001c0001t0002g0208a0001c0001t0002g0209others(2): Show | 5 | NA18951.hp1 NA18999.hp1 NA19004.hp1 others(2): Show |
intron_variant | MODIFIER | c.10327+1196C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494947 | ||||||
| chr8:109494966
|
A | G | 1 | a0011c0011t0045g0108 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.10327+1215A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109494966 | ||||||
| chr8:109495155
|
C | T | 1 | a0001c0001t0002g0211 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.10327+1404C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495155 | ||||||
| chr8:109495166
|
A | G | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.10327+1415A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495166 | ||||||
| chr8:109495404
|
G | A | 175 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(172): Show | 178 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(175): Show |
intron_variant | MODIFIER | c.10328-1515G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495404 | ||||||
| chr8:109495415
|
T | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10328-1504T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495415 | ||||||
| chr8:109495511
|
T | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10328-1408T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495511 | ||||||
| chr8:109495930
|
T | C | 1 | a0001c0001t0011g0254 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.10328-989T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495930 | ||||||
| chr8:109495937
|
T | C | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.10328-982T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495937 | ||||||
| chr8:109495997
|
G | T | 6 | a0001c0001t0002g0220a0001c0001t0002g0222a0001c0001t0002g0237others(3): Show | 6 | HG00544.hp2 NA18986.hp1 NA19068.hp2 others(3): Show |
intron_variant | MODIFIER | c.10328-922G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109495997 | ||||||
| chr8:109496009
|
C | T | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10328-910C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496009 | ||||||
| chr8:109496150
|
T | A | 1 | a0002c0002t0001g0064 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.10328-769T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496150 | ||||||
| chr8:109496151
|
T | G | 1 | a0005c0005t0005g0148 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.10328-768T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496151 | ||||||
| chr8:109496371
|
G | A | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.10328-548G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496371 | ||||||
| chr8:109496655
|
A | G | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10328-264A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496655 | ||||||
| chr8:109496881
|
T | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.10328-38T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496881 | ||||||
| chr8:109496882
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.10328-37G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 63/77 | chr8 | 109496882 | ||||||
| chr8:109497071
|
A | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
splice_region_variant&intron_variant | LOW | c.10476+4A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 64/77 | chr8 | 109497071 | ||||||
| chr8:109497095
|
T | C | 1 | a0002c0002t0001g0100 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.10476+28T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 64/77 | chr8 | 109497095 | ||||||
| chr8:109497115
|
C | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.10477-35C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 64/77 | chr8 | 109497115 | ||||||
| chr8:109497336
|
A | T | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.10599+64A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497336 | ||||||
| chr8:109497344
|
A | C | 6 | a0007c0008t0001g0090a0007c0008t0019g0089a0007c0008t0019g0091others(3): Show | 6 | HG01243.hp1 HG02895.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.10599+72A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497344 | ||||||
| chr8:109497354
|
TCTC | T | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10599+85_10599+87d others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109497354 | |||||
| chr8:109497379
|
G | A | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.10599+107G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497379 | ||||||
| chr8:109497393
|
G | A | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.10599+121G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497393 | ||||||
| chr8:109497430
|
C | CT | 8 | a0002c0002t0001g0036a0002c0002t0001g0042a0002c0002t0018g0059others(5): Show | 8 | HG00639.hp2 HG01074.hp1 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.10599+178dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109497430 | |||||
| chr8:109497430
|
CT | C | 120 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(117): Show | 123 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.10599+178delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109497430 | |||||
| chr8:109497430
|
CTT | C | 21 | a0001c0001t0002g0208a0011c0011t0008g0107a0012c0009t0004g0152others(18): Show | 21 | HG01109.hp1 HG01934.hp1 HG02145.hp2 others(18): Show |
intron_variant | MODIFIER | c.10599+177_10599+17 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109497430 | |||||
| chr8:109497436
|
T | C | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.10599+164T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497436 | ||||||
| chr8:109497525
|
C | G | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.10599+253C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497525 | ||||||
| chr8:109497571
|
T | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10599+299T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497571 | ||||||
| chr8:109497639
|
G | C | 1 | a0002c0002t0001g0080 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.10599+367G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497639 | ||||||
| chr8:109497668
|
C | T | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10599+396C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497668 | ||||||
| chr8:109497672
|
C | G | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.10599+400C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497672 | ||||||
| chr8:109497684
|
A | C | 175 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(172): Show | 178 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(175): Show |
intron_variant | MODIFIER | c.10599+412A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497684 | ||||||
| chr8:109497715
|
C | T | 1 | a0007c0072t0001g0053 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.10599+443C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497715 | ||||||
| chr8:109497732
|
C | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.10599+460C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497732 | ||||||
| chr8:109497757
|
C | G | 1 | a0054c0040t0003g0169 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.10599+485C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497757 | ||||||
| chr8:109497794
|
A | ATAGT | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10599+525_10599+52 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109497794 | |||||
| chr8:109497855
|
C | T | 6 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0048others(3): Show | 6 | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.10599+583C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497855 | ||||||
| chr8:109497948
|
C | A | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10600-514C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109497948 | ||||||
| chr8:109498078
|
TCATGTTT others(315): Show |
T | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10600-370_10600-49 others(3): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109498078 | |||||
| chr8:109498087
|
C | CT | 34 | a0002c0002t0001g0036a0002c0002t0001g0043a0002c0002t0001g0046others(31): Show | 34 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(31): Show |
intron_variant | MODIFIER | c.10600-350dupT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109498087 | |||||
| chr8:109498087
|
C | CTT | 7 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0045g0108others(4): Show | 7 | HG02109.hp1 HG02280.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.10600-351_10600-35 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | 109498087 | |||||
| chr8:109498262
|
C | T | 1 | a0009c0012t0001g0074 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.10600-200C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | chr8 | 109498262 | ||||||
| chr8:109499124
|
C | G | 11 | a0005c0005t0005g0142a0005c0005t0005g0144a0005c0005t0005g0145others(8): Show | 11 | HG02615.hp2 HG02622.hp2 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.10828+353C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499124 | ||||||
| chr8:109499151
|
T | C | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10828+380T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499151 | ||||||
| chr8:109499202
|
C | T | 1 | a0025c0030t0004g0275 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.10828+431C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499202 | ||||||
| chr8:109499326
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.10828+555G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499326 | ||||||
| chr8:109499419
|
C | T | 5 | a0001c0001t0002g0195a0001c0001t0002g0204a0001c0001t0002g0206others(2): Show | 5 | HG01099.hp2 HG01192.hp1 HG01433.hp2 others(2): Show |
intron_variant | MODIFIER | c.10828+648C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499419 | ||||||
| chr8:109499480
|
T | A | 1 | a0002c0002t0001g0007 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.10828+709T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499480 | ||||||
| chr8:109499518
|
TA | T | 12 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.10828+748delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499518 | ||||||
| chr8:109499684
|
T | C | 1 | a0004c0004t0001g0244 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.10828+913T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499684 | ||||||
| chr8:109499869
|
A | G | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10828+1098A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109499869 | ||||||
| chr8:109500005
|
G | A | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10828+1234G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500005 | ||||||
| chr8:109500168
|
T | C | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.10828+1397T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500168 | ||||||
| chr8:109500195
|
C | T | 1 | a0006c0006t0009g0030 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.10828+1424C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500195 | ||||||
| chr8:109500217
|
A | G | 112 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(109): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.10828+1446A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500217 | ||||||
| chr8:109500520
|
C | CA | 20 | a0002c0002t0001g0037a0002c0002t0001g0041a0002c0002t0001g0043others(17): Show | 20 | HG01109.hp2 HG01243.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.10828+1768dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500520 | |||||
| chr8:109500520
|
CA | C | 18 | a0002c0002t0001g0036a0002c0002t0001g0065a0002c0002t0001g0118others(15): Show | 18 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.10828+1768delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500520 | |||||
| chr8:109500536
|
AAAAC | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.10828+1766_10828+1 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500536 | ||||||
| chr8:109500537
|
AAAC | A | 21 | a0003c0003t0003g0001a0003c0003t0003g0155a0003c0003t0003g0161others(18): Show | 23 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(20): Show |
intron_variant | MODIFIER | c.10828+1767_10828+1 others(9): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500537 | ||||||
| chr8:109500538
|
AAC | A | 15 | a0001c0001t0002g0268a0003c0003t0003g0153a0003c0003t0003g0170others(12): Show | 15 | HG00639.hp1 HG00741.hp1 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.10828+1768_10828+1 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500538 | ||||||
| chr8:109500539
|
AC | A | 70 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(67): Show | 71 | HG00140.hp1 HG00642.hp2 HG00735.hp1 others(68): Show |
intron_variant | MODIFIER | c.10828+1770delC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500539 | |||||
| chr8:109500540
|
C | A | 7 | a0001c0001t0002g0217a0001c0001t0002g0237a0001c0001t0002g0255others(4): Show | 7 | HG00423.hp2 HG00544.hp2 HG02027.hp2 others(4): Show |
intron_variant | MODIFIER | c.10828+1769C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500540 | ||||||
| chr8:109500669
|
G | A | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.10828+1898G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500669 | ||||||
| chr8:109500671
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.10828+1900C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500671 | ||||||
| chr8:109500673
|
C | CA | 17 | a0001c0001t0002g0217a0002c0002t0001g0036a0002c0002t0001g0037others(14): Show | 17 | HG00423.hp1 HG00639.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.10828+1928dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
C | CAA | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG00741.hp2 HG01074.hp2 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.10828+1927_10828+1 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
C | CAAA | 11 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.10828+1926_10828+1 others(9): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
C | CAAAAAAA others(3): Show |
1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.10828+1919_10828+1 others(16): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
C | CAAAAAAA others(4): Show |
1 | a0067c0041t0022g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.10828+1918_10828+1 others(17): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
CA | C | 113 | a0001c0001t0002g0182a0001c0001t0002g0183a0001c0001t0002g0185others(110): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.10828+1928delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
CAA | C | 10 | a0001c0001t0002g0002a0001c0001t0002g0184a0001c0001t0002g0204others(7): Show | 11 | HG01069.hp2 HG01169.hp2 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.10828+1927_10828+1 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500673
|
CAAA | C | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10828+1926_10828+1 others(9): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109500673 | |||||
| chr8:109500815
|
A | T | 1 | a0002c0002t0001g0041 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.10828+2044A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109500815 | ||||||
| chr8:109501083
|
C | CCTTTGGT others(16): Show |
8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10828+2313_10828+2 others(29): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109501083 | |||||
| chr8:109501118
|
G | A | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10828+2347G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501118 | ||||||
| chr8:109501196
|
C | T | 112 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(109): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.10828+2425C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501196 | ||||||
| chr8:109501341
|
C | T | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.10828+2570C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501341 | ||||||
| chr8:109501372
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10828+2601C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501372 | ||||||
| chr8:109501515
|
G | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.10828+2744G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501515 | ||||||
| chr8:109501555
|
T | C | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.10829-2772T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501555 | ||||||
| chr8:109501610
|
C | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10829-2717C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501610 | ||||||
| chr8:109501828
|
G | A | 1 | a0043c0069t0001g0179 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.10829-2499G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109501828 | ||||||
| chr8:109502044
|
C | G | 1 | a0056c0076t0022g0106 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.10829-2283C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502044 | ||||||
| chr8:109502047
|
C | CCCACA | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.10829-2256_10829-2 others(11): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109502047 | |||||
| chr8:109502111
|
T | G | 1 | a0001c0001t0027g0228 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.10829-2216T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502111 | ||||||
| chr8:109502122
|
G | A | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10829-2205G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502122 | ||||||
| chr8:109502135
|
G | A | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10829-2192G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502135 | ||||||
| chr8:109502158
|
G | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-2169G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502158 | ||||||
| chr8:109502198
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.10829-2129T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502198 | ||||||
| chr8:109502526
|
TG | T | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.10829-1800delG | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502526 | ||||||
| chr8:109502548
|
G | A | 1 | a0022c0025t0032g0124 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.10829-1779G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502548 | ||||||
| chr8:109502609
|
T | C | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.10829-1718T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502609 | ||||||
| chr8:109502656
|
T | C | 2 | a0021c0026t0013g0130a0021c0026t0013g0131 | 2 | HG00741.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.10829-1671T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502656 | ||||||
| chr8:109502761
|
G | A | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.10829-1566G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502761 | ||||||
| chr8:109502939
|
T | C | 2 | a0005c0005t0005g0149a0005c0005t0005g0150 | 2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.10829-1388T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502939 | ||||||
| chr8:109502967
|
C | T | 30 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(27): Show | 32 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
intron_variant | MODIFIER | c.10829-1360C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502967 | ||||||
| chr8:109502997
|
C | G | 161 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(158): Show | 164 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.10829-1330C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502997 | ||||||
| chr8:109502998
|
G | A | 8 | a0002c0002t0001g0038a0002c0002t0001g0043a0002c0002t0001g0049others(5): Show | 8 | NA18612.hp1 NA18999.hp2 NA19003.hp2 others(5): Show |
intron_variant | MODIFIER | c.10829-1329G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109502998 | ||||||
| chr8:109503041
|
C | G | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.10829-1286C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503041 | ||||||
| chr8:109503132
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-1195C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503132 | ||||||
| chr8:109503268
|
G | GGACTCCA others(14): Show |
276 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(273): Show | 279 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
intron_variant | MODIFIER | c.10829-1056_10829-1 others(27): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109503268 | |||||
| chr8:109503272
|
C | T | 278 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(275): Show | 281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.10829-1055C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503272 | ||||||
| chr8:109503276
|
T | G | 2 | a0002c0002t0001g0128a0038c0066t0001g0054 | 2 | HG00323.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.10829-1051T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503276 | ||||||
| chr8:109503278
|
T | A | 2 | a0002c0002t0001g0128a0038c0066t0001g0054 | 2 | HG00323.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.10829-1049T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503278 | ||||||
| chr8:109503281
|
A | G | 2 | a0002c0002t0001g0128a0038c0066t0001g0054 | 2 | HG00323.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.10829-1046A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503281 | ||||||
| chr8:109503283
|
A | G | 2 | a0002c0002t0001g0128a0038c0066t0001g0054 | 2 | HG00323.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.10829-1044A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503283 | ||||||
| chr8:109503285
|
A | T | 2 | a0002c0002t0001g0128a0038c0066t0001g0054 | 2 | HG00323.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.10829-1042A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503285 | ||||||
| chr8:109503315
|
C | A | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.10829-1012C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503315 | ||||||
| chr8:109503315
|
C | CA | 17 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(14): Show | 17 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.10829-1002dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109503315 | |||||
| chr8:109503315
|
CA | C | 133 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(130): Show | 136 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.10829-1002delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | 109503315 | |||||
| chr8:109503891
|
A | T | 175 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(172): Show | 178 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(175): Show |
intron_variant | MODIFIER | c.10829-436A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503891 | ||||||
| chr8:109503939
|
C | T | 10 | a0008c0007t0006g0010a0008c0007t0006g0011a0008c0007t0006g0012others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.10829-388C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503939 | ||||||
| chr8:109503999
|
T | C | 1 | a0001c0001t0002g0205 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.10829-328T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109503999 | ||||||
| chr8:109504015
|
G | A | 1 | a0001c0001t0002g0234 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.10829-312G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504015 | ||||||
| chr8:109504028
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-299C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504028 | ||||||
| chr8:109504031
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-296A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504031 | ||||||
| chr8:109504101
|
A | G | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-226A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504101 | ||||||
| chr8:109504166
|
C | T | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.10829-161C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504166 | ||||||
| chr8:109504183
|
T | C | 19 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(16): Show | 19 | HG01074.hp2 HG01167.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.10829-144T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504183 | ||||||
| chr8:109504219
|
C | T | 1 | a0001c0001t0007g0261 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.10829-108C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504219 | ||||||
| chr8:109504298
|
T | C | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10829-29T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504298 | ||||||
| chr8:109504304
|
C | T | 6 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0048others(3): Show | 6 | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.10829-23C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | chr8 | 109504304 | ||||||
| chr8:109504728
|
A | T | 7 | a0002c0002t0001g0051a0002c0002t0001g0082a0002c0002t0018g0059others(4): Show | 7 | HG02083.hp2 HG03927.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.10994+236A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109504728 | ||||||
| chr8:109504869
|
C | A | 2 | a0002c0002t0001g0126a0069c0028t0001g0141 | 2 | HG02896.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.10994+377C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109504869 | ||||||
| chr8:109504943
|
G | A | 1 | a0001c0001t0010g0191 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.10994+451G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109504943 | ||||||
| chr8:109504988
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10994+496C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109504988 | ||||||
| chr8:109505040
|
AATT | A | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.10994+563_10994+56 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | INFO_REALIGN_3_PRIME | chr8 | 109505040 | |||||
| chr8:109505202
|
C | T | 27 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(24): Show | 29 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show |
intron_variant | MODIFIER | c.10994+710C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505202 | ||||||
| chr8:109505223
|
G | T | 3 | a0050c0043t0030g0277a0057c0075t0035g0021a0062c0062t0026g0044 | 3 | HG02055.hp2 HG03195.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.10994+731G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505223 | ||||||
| chr8:109505262
|
C | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10994+770C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505262 | ||||||
| chr8:109505263
|
C | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10994+771C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505263 | ||||||
| chr8:109505340
|
T | C | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.10994+848T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505340 | ||||||
| chr8:109505389
|
C | T | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.10994+897C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505389 | ||||||
| chr8:109505450
|
C | T | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.10994+958C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505450 | ||||||
| chr8:109505451
|
G | A | 28 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(25): Show | 30 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.10994+959G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505451 | ||||||
| chr8:109505890
|
G | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10994+1398G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505890 | ||||||
| chr8:109505979
|
C | A | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10994+1487C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109505979 | ||||||
| chr8:109506132
|
A | G | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.10995-1531A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506132 | ||||||
| chr8:109506305
|
G | A | 112 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(109): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.10995-1358G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506305 | ||||||
| chr8:109506405
|
A | C | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10995-1258A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506405 | ||||||
| chr8:109506494
|
G | A | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.10995-1169G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506494 | ||||||
| chr8:109506641
|
A | G | 6 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(3): Show | 6 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.10995-1022A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506641 | ||||||
| chr8:109506684
|
A | G | 1 | a0065c0033t0007g0135 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.10995-979A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109506684 | ||||||
| chr8:109507311
|
A | G | 1 | a0002c0002t0001g0093 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.10995-352A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109507311 | ||||||
| chr8:109507343
|
C | T | 134 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(131): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.10995-320C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109507343 | ||||||
| chr8:109507585
|
T | C | 153 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.10995-78T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109507585 | ||||||
| chr8:109507613
|
A | G | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.10995-50A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109507613 | ||||||
| chr8:109507654
|
T | A | 1 | a0002c0002t0001g0057 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.10995-9T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 68/77 | chr8 | 109507654 | ||||||
| chr8:109507968
|
C | T | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.11227+73C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109507968 | ||||||
| chr8:109507973
|
C | G | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11227+78C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109507973 | ||||||
| chr8:109508009
|
A | G | 1 | a0002c0002t0001g0076 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.11228-88A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109508009 | ||||||
| chr8:109508031
|
G | A | 3 | a0002c0002t0018g0059a0002c0002t0018g0081a0039c0071t0039g0083 | 3 | HG03927.hp2 NA18997.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.11228-66G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109508031 | ||||||
| chr8:109508035
|
T | A | 5 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(2): Show | 5 | HG01884.hp2 HG01891.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.11228-62T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109508035 | ||||||
| chr8:109508050
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.11228-47A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109508050 | ||||||
| chr8:109508051
|
A | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11228-46A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 69/77 | chr8 | 109508051 | ||||||
| chr8:109508518
|
G | T | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11395+254G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109508518 | ||||||
| chr8:109508592
|
G | GA | 24 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(21): Show | 24 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.11395+336dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | INFO_REALIGN_3_PRIME | chr8 | 109508592 | |||||
| chr8:109508636
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.11395+372C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109508636 | ||||||
| chr8:109508795
|
C | T | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11395+531C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109508795 | ||||||
| chr8:109508959
|
C | A | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.11395+695C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109508959 | ||||||
| chr8:109508982
|
A | C | 1 | a0002c0002t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.11395+718A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109508982 | ||||||
| chr8:109509096
|
T | A | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11395+832T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509096 | ||||||
| chr8:109509114
|
A | G | 5 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.11395+850A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509114 | ||||||
| chr8:109509172
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.11395+908C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509172 | ||||||
| chr8:109509248
|
G | A | 104 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(101): Show | 105 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(102): Show |
intron_variant | MODIFIER | c.11395+984G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509248 | ||||||
| chr8:109509287
|
C | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11395+1023C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509287 | ||||||
| chr8:109509992
|
A | G | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11396-785A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109509992 | ||||||
| chr8:109509992
|
AC | A | 3 | a0050c0043t0030g0277a0057c0075t0035g0021a0062c0062t0026g0044 | 3 | HG02055.hp2 HG03195.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11396-783delC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | INFO_REALIGN_3_PRIME | chr8 | 109509992 | |||||
| chr8:109510169
|
A | G | 1 | a0001c0001t0002g0198 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.11396-608A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510169 | ||||||
| chr8:109510180
|
C | T | 1 | a0001c0001t0002g0226 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.11396-597C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510180 | ||||||
| chr8:109510206
|
T | A | 1 | a0029c0052t0002g0224 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.11396-571T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510206 | ||||||
| chr8:109510287
|
G | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11396-490G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510287 | ||||||
| chr8:109510498
|
G | A | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11396-279G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510498 | ||||||
| chr8:109510543
|
G | A | 78 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(75): Show | 79 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.11396-234G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510543 | ||||||
| chr8:109510573
|
T | G | 2 | a0021c0026t0013g0130a0021c0026t0013g0131 | 2 | HG00741.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.11396-204T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510573 | ||||||
| chr8:109510601
|
A | G | 3 | a0050c0043t0030g0277a0057c0075t0035g0021a0062c0062t0026g0044 | 3 | HG02055.hp2 HG03195.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11396-176A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510601 | ||||||
| chr8:109510736
|
T | C | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11396-41T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 70/77 | chr8 | 109510736 | ||||||
| chr8:109510978
|
A | T | 36 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(33): Show | 38 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(35): Show |
intron_variant | MODIFIER | c.11553+44A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109510978 | ||||||
| chr8:109511110
|
A | G | 2 | a0004c0004t0001g0266a0009c0012t0001g0067 | 2 | NA18952.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.11553+176A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511110 | ||||||
| chr8:109511115
|
C | A | 1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.11553+181C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511115 | ||||||
| chr8:109511158
|
A | C | 1 | a0012c0009t0004g0152 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.11553+224A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511158 | ||||||
| chr8:109511175
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11553+241G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511175 | ||||||
| chr8:109511230
|
C | T | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.11553+296C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511230 | ||||||
| chr8:109511345
|
T | C | 1 | a0024c0023t0004g0123 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.11553+411T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511345 | ||||||
| chr8:109511359
|
A | G | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.11553+425A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511359 | ||||||
| chr8:109511637
|
T | C | 1 | a0049c0036t0004g0159 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.11553+703T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511637 | ||||||
| chr8:109511644
|
A | G | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11553+710A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511644 | ||||||
| chr8:109511783
|
G | A | 1 | a0008c0007t0006g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.11553+849G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511783 | ||||||
| chr8:109511784
|
G | T | 1 | a0008c0007t0006g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.11553+850G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511784 | ||||||
| chr8:109511857
|
C | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11553+923C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511857 | ||||||
| chr8:109511904
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.11553+970G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109511904 | ||||||
| chr8:109512017
|
C | T | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11553+1083C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512017 | ||||||
| chr8:109512039
|
G | T | 1 | a0002c0002t0001g0087 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.11553+1105G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512039 | ||||||
| chr8:109512045
|
T | A | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.11553+1111T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512045 | ||||||
| chr8:109512056
|
T | C | 75 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(72): Show | 76 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(73): Show |
intron_variant | MODIFIER | c.11553+1122T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512056 | ||||||
| chr8:109512117
|
C | T | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11553+1183C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512117 | ||||||
| chr8:109512118
|
G | A | 1 | a0001c0001t0002g0263 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.11553+1184G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512118 | ||||||
| chr8:109512189
|
T | C | 38 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(35): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
intron_variant | MODIFIER | c.11553+1255T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512189 | ||||||
| chr8:109512313
|
G | C | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11553+1379G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512313 | ||||||
| chr8:109512336
|
A | G | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11553+1402A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512336 | ||||||
| chr8:109512441
|
A | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.11553+1507A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512441 | ||||||
| chr8:109512476
|
T | C | 75 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(72): Show | 76 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(73): Show |
intron_variant | MODIFIER | c.11553+1542T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512476 | ||||||
| chr8:109512599
|
C | A | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.11553+1665C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512599 | ||||||
| chr8:109512609
|
T | C | 1 | a0002c0002t0001g0078 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.11553+1675T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512609 | ||||||
| chr8:109512610
|
A | G | 1 | a0001c0001t0007g0259 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.11553+1676A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512610 | ||||||
| chr8:109512672
|
G | A | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11553+1738G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512672 | ||||||
| chr8:109512689
|
T | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11553+1755T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512689 | ||||||
| chr8:109512709
|
G | A | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11553+1775G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512709 | ||||||
| chr8:109512755
|
G | A | 45 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(42): Show | 47 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.11553+1821G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512755 | ||||||
| chr8:109512870
|
C | A | 1 | a0003c0003t0003g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.11553+1936C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512870 | ||||||
| chr8:109512961
|
A | G | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11553+2027A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109512961 | ||||||
| chr8:109513125
|
A | G | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11554-2045A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513125 | ||||||
| chr8:109513135
|
T | A | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11554-2035T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513135 | ||||||
| chr8:109513305
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.11554-1865C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513305 | ||||||
| chr8:109513374
|
A | G | 38 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(35): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
intron_variant | MODIFIER | c.11554-1796A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513374 | ||||||
| chr8:109513495
|
A | G | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.11554-1675A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513495 | ||||||
| chr8:109513621
|
G | T | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.11554-1549G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513621 | ||||||
| chr8:109513655
|
A | G | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.11554-1515A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513655 | ||||||
| chr8:109513742
|
C | T | 1 | a0048c0035t0033g0160 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.11554-1428C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513742 | ||||||
| chr8:109513946
|
C | T | 1 | a0002c0002t0001g0037 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.11554-1224C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513946 | ||||||
| chr8:109513947
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.11554-1223G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109513947 | ||||||
| chr8:109514194
|
T | G | 2 | a0005c0005t0005g0149a0005c0005t0005g0150 | 2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.11554-976T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109514194 | ||||||
| chr8:109514329
|
C | A | 1 | a0022c0025t0004g0114 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.11554-841C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109514329 | ||||||
| chr8:109514584
|
C | T | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11554-586C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109514584 | ||||||
| chr8:109514899
|
G | C | 1 | a0041c0068t0001g0039 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.11554-271G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109514899 | ||||||
| chr8:109515072
|
T | G | 2 | a0005c0005t0005g0279a0040c0067t0005g0115 | 2 | HG02615.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.11554-98T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109515072 | ||||||
| chr8:109515136
|
T | C | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.11554-34T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 71/77 | chr8 | 109515136 | ||||||
| chr8:109515327
|
A | T | 45 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(42): Show | 47 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.11689+22A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515327 | ||||||
| chr8:109515337
|
G | A | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.11689+32G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515337 | ||||||
| chr8:109515340
|
A | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11689+35A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515340 | ||||||
| chr8:109515401
|
CAAT | C | 22 | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(19): Show | 22 | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.11689+97_11689+99d others(5): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515401 | ||||||
| chr8:109515403
|
A | G | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.11689+98A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515403 | ||||||
| chr8:109515431
|
C | T | 8 | a0011c0011t0008g0107a0011c0011t0008g0109a0011c0011t0008g0110others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.11689+126C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515431 | ||||||
| chr8:109515663
|
C | G | 2 | a0003c0015t0017g0112a0003c0015t0017g0129 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.11689+358C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515663 | ||||||
| chr8:109515754
|
T | C | 4 | a0002c0002t0001g0068a0002c0002t0001g0084a0002c0002t0001g0085others(1): Show | 4 | HG00099.hp1 HG00733.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.11689+449T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515754 | ||||||
| chr8:109515808
|
T | C | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11689+503T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515808 | ||||||
| chr8:109515920
|
A | G | 161 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(158): Show | 164 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.11689+615A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515920 | ||||||
| chr8:109515929
|
T | C | 1 | a0002c0002t0018g0059 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.11689+624T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109515929 | ||||||
| chr8:109515977
|
GATC | G | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.11689+675_11689+67 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr8 | 109515977 | |||||
| chr8:109516257
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.11689+952G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516257 | ||||||
| chr8:109516416
|
T | C | 3 | a0009c0012t0001g0074a0009c0012t0001g0102a0046c0073t0001g0062 | 3 | NA19004.hp2 NA19060.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.11689+1111T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516416 | ||||||
| chr8:109516641
|
A | G | 164 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(161): Show | 167 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(164): Show |
intron_variant | MODIFIER | c.11689+1336A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516641 | ||||||
| chr8:109516657
|
A | G | 38 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(35): Show | 40 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
intron_variant | MODIFIER | c.11689+1352A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516657 | ||||||
| chr8:109516812
|
T | G | 1 | a0004c0004t0001g0196 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.11690-1355T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516812 | ||||||
| chr8:109516848
|
T | C | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11690-1319T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516848 | ||||||
| chr8:109516853
|
T | C | 1 | a0003c0003t0003g0170 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.11690-1314T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516853 | ||||||
| chr8:109516955
|
G | T | 1 | a0001c0001t0002g0205 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.11690-1212G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109516955 | ||||||
| chr8:109517088
|
G | A | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.11690-1079G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517088 | ||||||
| chr8:109517307
|
G | A | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.11690-860G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517307 | ||||||
| chr8:109517316
|
C | A | 1 | a0001c0001t0002g0198 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.11690-851C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517316 | ||||||
| chr8:109517366
|
T | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.11690-801T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517366 | ||||||
| chr8:109517448
|
C | T | 3 | a0001c0001t0002g0222a0001c0020t0002g0231a0001c0020t0002g0253 | 3 | NA19068.hp2 NA19080.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.11690-719C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517448 | ||||||
| chr8:109517450
|
G | A | 1 | a0001c0001t0010g0193 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.11690-717G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517450 | ||||||
| chr8:109517630
|
GC | G | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.11690-535delC | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr8 | 109517630 | |||||
| chr8:109517647
|
A | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.11690-520A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | chr8 | 109517647 | ||||||
| chr8:109517694
|
GT | G | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.11690-469delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr8 | 109517694 | |||||
| chr8:109518545
|
T | C | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.12031+37T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109518545 | ||||||
| chr8:109518648
|
C | T | 45 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(42): Show | 47 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.12031+140C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109518648 | ||||||
| chr8:109518737
|
G | A | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.12031+229G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109518737 | ||||||
| chr8:109519015
|
G | A | 1 | a0001c0001t0002g0218 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.12031+507G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519015 | ||||||
| chr8:109519173
|
G | A | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.12031+665G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519173 | ||||||
| chr8:109519269
|
A | G | 3 | a0002c0002t0001g0065a0002c0002t0001g0118a0041c0068t0001g0039 | 3 | HG01257.hp2 NA20752.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.12031+761A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519269 | ||||||
| chr8:109519541
|
C | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12031+1033C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519541 | ||||||
| chr8:109519644
|
T | C | 1 | a0005c0005t0005g0279 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.12031+1136T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519644 | ||||||
| chr8:109519718
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.12031+1210A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519718 | ||||||
| chr8:109519736
|
T | G | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.12031+1228T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519736 | ||||||
| chr8:109519818
|
G | A | 2 | a0027c0029t0023g0272a0070c0045t0003g0167 | 2 | HG02257.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.12031+1310G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519818 | ||||||
| chr8:109519928
|
G | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.12031+1420G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519928 | ||||||
| chr8:109519933
|
G | A | 1 | a0005c0005t0005g0151 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.12031+1425G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109519933 | ||||||
| chr8:109520135
|
G | A | 3 | a0003c0003t0015g0003a0003c0003t0015g0005a0052c0039t0015g0004 | 3 | HG00280.hp2 HG01192.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.12031+1627G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520135 | ||||||
| chr8:109520211
|
G | A | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12031+1703G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520211 | ||||||
| chr8:109520277
|
T | A | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.12031+1769T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520277 | ||||||
| chr8:109520340
|
G | A | 1 | a0002c0002t0001g0076 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.12031+1832G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520340 | ||||||
| chr8:109520353
|
G | A | 2 | a0002c0002t0001g0126a0069c0028t0001g0141 | 2 | HG02896.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12032-1833G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520353 | ||||||
| chr8:109520451
|
C | T | 1 | a0001c0001t0002g0216 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.12032-1735C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520451 | ||||||
| chr8:109520507
|
T | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12032-1679T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520507 | ||||||
| chr8:109520515
|
C | A | 1 | a0001c0001t0002g0202 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.12032-1671C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520515 | ||||||
| chr8:109520646
|
G | A | 1 | a0004c0004t0001g0249 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.12032-1540G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520646 | ||||||
| chr8:109520671
|
A | G | 2 | a0056c0076t0022g0106a0067c0041t0022g0134 | 2 | HG02970.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.12032-1515A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520671 | ||||||
| chr8:109520715
|
A | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12032-1471A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109520715 | ||||||
| chr8:109520779
|
C | CAG | 150 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(147): Show | 153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.12032-1406_12032-1 others(8): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | INFO_REALIGN_3_PRIME | chr8 | 109520779 | |||||
| chr8:109521199
|
G | A | 1 | a0006c0006t0009g0032 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.12032-987G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521199 | ||||||
| chr8:109521265
|
T | C | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12032-921T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521265 | ||||||
| chr8:109521504
|
G | A | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.12032-682G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521504 | ||||||
| chr8:109521525
|
A | G | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.12032-661A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521525 | ||||||
| chr8:109521565
|
A | G | 1 | a0002c0002t0001g0099 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.12032-621A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521565 | ||||||
| chr8:109521591
|
A | G | 1 | a0003c0003t0003g0174 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.12032-595A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521591 | ||||||
| chr8:109521663
|
G | GA | 148 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(145): Show | 151 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(148): Show |
intron_variant | MODIFIER | c.12032-521dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | INFO_REALIGN_3_PRIME | chr8 | 109521663 | |||||
| chr8:109521753
|
G | A | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12032-433G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521753 | ||||||
| chr8:109521927
|
G | C | 1 | a0059c0046t0004g0009 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.12032-259G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521927 | ||||||
| chr8:109521956
|
T | C | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.12032-230T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 73/77 | chr8 | 109521956 | ||||||
| chr8:109522464
|
T | A | 3 | a0001c0001t0002g0217a0001c0001t0002g0234a0045c0080t0002g0058 | 3 | HG00423.hp2 HG02027.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.12183+127T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 74/77 | chr8 | 109522464 | ||||||
| chr8:109522546
|
T | C | 143 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(140): Show | 146 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(143): Show |
intron_variant | MODIFIER | c.12184-198T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 74/77 | chr8 | 109522546 | ||||||
| chr8:109522574
|
A | G | 1 | a0002c0002t0044g0060 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.12184-170A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 74/77 | chr8 | 109522574 | ||||||
| chr8:109522997
|
C | T | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12330+107C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | chr8 | 109522997 | ||||||
| chr8:109523011
|
G | A | 1 | a0008c0007t0006g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.12330+121G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | chr8 | 109523011 | ||||||
| chr8:109523097
|
CTT | C | 3 | a0003c0015t0017g0112a0003c0015t0017g0129a0053c0077t0042g0026 | 3 | HG02280.hp2 HG02451.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.12331-134_12331-13 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | INFO_REALIGN_3_PRIME | chr8 | 109523097 | |||||
| chr8:109523121
|
G | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12331-112G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | chr8 | 109523121 | ||||||
| chr8:109523215
|
CT | C | 9 | a0001c0001t0007g0259a0002c0002t0001g0036a0002c0002t0001g0072others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01255.hp1 others(6): Show |
splice_region_variant&intron_variant | LOW | c.12331-3delT | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | INFO_REALIGN_3_PRIME | chr8 | 109523215 | |||||
| chr8:109523215
|
CTT | C | 103 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(100): Show | 104 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(101): Show |
splice_region_variant&intron_variant | LOW | c.12331-4_12331-3del others(2): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 75/77 | INFO_REALIGN_3_PRIME | chr8 | 109523215 | |||||
| chr8:109523502
|
A | C | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12484+116A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523502 | ||||||
| chr8:109523517
|
C | T | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.12484+131C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523517 | ||||||
| chr8:109523603
|
G | A | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.12484+217G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523603 | ||||||
| chr8:109523690
|
A | G | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12484+304A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523690 | ||||||
| chr8:109523836
|
T | A | 1 | a0002c0002t0001g0087 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.12484+450T>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523836 | ||||||
| chr8:109523984
|
C | A | 6 | a0001c0001t0007g0259a0001c0001t0007g0261a0001c0001t0007g0262others(3): Show | 6 | HG01261.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.12484+598C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109523984 | ||||||
| chr8:109524003
|
T | C | 3 | a0050c0043t0030g0277a0057c0075t0035g0021a0062c0062t0026g0044 | 3 | HG02055.hp2 HG03195.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.12484+617T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524003 | ||||||
| chr8:109524087
|
T | C | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12484+701T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524087 | ||||||
| chr8:109524189
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12484+803C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524189 | ||||||
| chr8:109524552
|
C | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12484+1166C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524552 | ||||||
| chr8:109524723
|
G | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12484+1337G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524723 | ||||||
| chr8:109524792
|
C | T | 2 | a0005c0005t0005g0279a0040c0067t0005g0115 | 2 | HG02615.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.12484+1406C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524792 | ||||||
| chr8:109524810
|
C | CTCCT | 154 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(151): Show | 157 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(154): Show |
intron_variant | MODIFIER | c.12484+1437_12484+1 others(10): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | INFO_REALIGN_3_PRIME | chr8 | 109524810 | |||||
| chr8:109524827
|
C | T | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.12484+1441C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524827 | ||||||
| chr8:109524837
|
T | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.12484+1451T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524837 | ||||||
| chr8:109524840
|
T | C | 7 | a0006c0006t0009g0027a0006c0006t0009g0028a0006c0006t0009g0029others(4): Show | 7 | HG01074.hp2 HG01884.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.12484+1454T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524840 | ||||||
| chr8:109524860
|
C | A | 2 | a0004c0004t0001g0238a0004c0004t0001g0239 | 2 | HG01123.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.12484+1474C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109524860 | ||||||
| chr8:109525070
|
A | C | 2 | a0014c0014t0003g0173a0014c0014t0003g0178 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.12484+1684A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109525070 | ||||||
| chr8:109525188
|
A | C | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.12485-1596A>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109525188 | ||||||
| chr8:109525550
|
C | T | 3 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155 | 5 | HG02683.hp2 HG03239.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.12485-1234C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109525550 | ||||||
| chr8:109525553
|
G | A | 5 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(2): Show | 5 | HG01884.hp2 HG01891.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.12485-1231G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109525553 | ||||||
| chr8:109525642
|
G | T | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.12485-1142G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109525642 | ||||||
| chr8:109525854
|
TA | T | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.12485-928delA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | INFO_REALIGN_3_PRIME | chr8 | 109525854 | |||||
| chr8:109526120
|
A | T | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.12485-664A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526120 | ||||||
| chr8:109526247
|
T | G | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12485-537T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526247 | ||||||
| chr8:109526267
|
G | A | 1 | a0053c0077t0042g0026 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.12485-517G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526267 | ||||||
| chr8:109526269
|
T | C | 1 | a0008c0007t0006g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.12485-515T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526269 | ||||||
| chr8:109526331
|
T | C | 1 | a0062c0062t0026g0044 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.12485-453T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526331 | ||||||
| chr8:109526374
|
A | T | 201 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(198): Show | 204 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
intron_variant | MODIFIER | c.12485-410A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526374 | ||||||
| chr8:109526386
|
C | T | 9 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(6): Show | 9 | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.12485-398C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526386 | ||||||
| chr8:109526658
|
C | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12485-126C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526658 | ||||||
| chr8:109526661
|
C | A | 1 | a0019c0019t0025g0246 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.12485-123C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526661 | ||||||
| chr8:109526725
|
G | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12485-59G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 76/77 | chr8 | 109526725 | ||||||
| chr8:109527237
|
C | G | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12721+217C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527237 | ||||||
| chr8:109527279
|
A | G | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.12721+259A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527279 | ||||||
| chr8:109527280
|
T | C | 3 | a0015c0027t0016g0022a0015c0027t0016g0023a0015c0042t0016g0158 | 3 | HG02615.hp1 HG02622.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.12721+260T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527280 | ||||||
| chr8:109527346
|
A | G | 26 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(23): Show | 28 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(25): Show |
intron_variant | MODIFIER | c.12721+326A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527346 | ||||||
| chr8:109527347
|
T | TA | 27 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(24): Show | 29 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show |
intron_variant | MODIFIER | c.12721+334dupA | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | INFO_REALIGN_3_PRIME | chr8 | 109527347 | |||||
| chr8:109527374
|
G | T | 164 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(161): Show | 167 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(164): Show |
intron_variant | MODIFIER | c.12721+354G>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527374 | ||||||
| chr8:109527558
|
T | C | 1 | a0002c0002t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.12721+538T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527558 | ||||||
| chr8:109527686
|
C | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12721+666C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527686 | ||||||
| chr8:109527746
|
T | G | 1 | a0050c0043t0030g0277 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.12721+726T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527746 | ||||||
| chr8:109527750
|
C | T | 1 | a0027c0029t0023g0272 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.12721+730C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527750 | ||||||
| chr8:109527860
|
A | G | 1 | a0057c0075t0035g0021 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12721+840A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527860 | ||||||
| chr8:109527878
|
C | A | 1 | a0035c0032t0004g0157 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.12721+858C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109527878 | ||||||
| chr8:109528036
|
G | C | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12721+1016G>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528036 | ||||||
| chr8:109528232
|
A | G | 4 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.12721+1212A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528232 | ||||||
| chr8:109528533
|
A | T | 83 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(80): Show | 84 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.12721+1513A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528533 | ||||||
| chr8:109528850
|
C | A | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12722-1230C>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528850 | ||||||
| chr8:109528972
|
C | T | 36 | a0003c0003t0003g0001a0003c0003t0003g0153a0003c0003t0003g0155others(33): Show | 38 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(35): Show |
intron_variant | MODIFIER | c.12722-1108C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528972 | ||||||
| chr8:109528992
|
A | G | 12 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.12722-1088A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109528992 | ||||||
| chr8:109529055
|
A | T | 2 | a0023c0018t0003g0162a0023c0018t0003g0163 | 2 | HG00099.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.12722-1025A>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529055 | ||||||
| chr8:109529181
|
C | G | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12722-899C>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529181 | ||||||
| chr8:109529247
|
T | C | 3 | a0002c0002t0001g0066a0013c0024t0001g0097a0013c0024t0001g0120 | 3 | HG00544.hp1 NA19080.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.12722-833T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529247 | ||||||
| chr8:109529259
|
G | A | 1 | a0055c0038t0031g0154 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.12722-821G>A | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529259 | ||||||
| chr8:109529436
|
T | C | 1 | a0002c0002t0001g0064 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.12722-644T>C | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529436 | ||||||
| chr8:109529598
|
T | G | 1 | a0047c0037t0028g0156 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.12722-482T>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529598 | ||||||
| chr8:109529673
|
GCTT | G | 21 | a0012c0009t0004g0143a0012c0009t0004g0146a0012c0009t0004g0147others(18): Show | 21 | HG00733.hp2 HG01109.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.12722-400_12722-39 others(7): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | INFO_REALIGN_3_PRIME | chr8 | 109529673 | |||||
| chr8:109529734
|
C | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12722-346C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529734 | ||||||
| chr8:109529993
|
A | G | 7 | a0017c0017t0004g0273a0017c0017t0004g0274a0019c0019t0004g0180others(4): Show | 7 | HG01109.hp1 HG02630.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.12722-87A>G | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109529993 | ||||||
| chr8:109530069
|
C | T | 105 | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(102): Show | 106 | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.12722-11C>T | PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 77/77 | chr8 | 109530069 |