Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 5475 |
|---|---|
| ensemblid | ENSG00000086717.19 |
| hgncid | 9243 |
| symbol | PPEF1 |
| name | protein phosphatase with EF-hand domain 1 |
| refseq_nuc | NM_001377996.1 |
| refseq_prot | NP_001364925.1 |
| ensembl_nuc | ENST00000470157.2 |
| ensembl_prot | ENSP00000419273.2 |
| mane_status | MANE Select |
| chr | chrX |
| start | 18707645 |
| end | 18827917 |
| strand | + |
| ver | v1.2 |
| region | chrX:18707645-18827917 |
| region5000 | chrX:18702645-18832917 |
| regionname0 | PPEF1_chrX_18707645_18827917 |
| regionname5000 | PPEF1_chrX_18702645_18832917 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 653 | 216 | 57 | 37 | 95 | 6 | 19 | 73 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0002 | 0/0 | 653 | 4 | 0 | 3 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0003 | 0/0 | 653 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0004 | 0/0 | 538 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0005 | 0/0 | 653 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0006 | 0/0 | 653 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 1962 | 207 | 49 | 36 | 95 | 6 | 19 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0002 | 0/0 | 1962 | 4 | 0 | 3 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0003 | 0/0 | 1962 | 4 | 4 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0004 | 0/0 | 1962 | 3 | 2 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0005 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0006 | 0/0 | 1963 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0007 | 0/0 | 1962 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0008 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0009 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| c0010 | 0/0 | 1962 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 567 | 218 | 58 | 40 | 92 | 6 | 20 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| t0002 | 0/0 | 567 | 2 | 0 | 0 | 2 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| t0003 | 0/0 | 563 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| t0004 | 0/0 | 567 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| t0005 | 0/0 | 565 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| t0006 | 0/0 | 567 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0034 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0124 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1962 | 207 | 49 | 36 | 95 | 6 | 19 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0003 | 0/0 | 1962 | 4 | 4 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0004 | 0/0 | 1962 | 3 | 2 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0005 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0008 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0002c0002 | 0/0 | 1962 | 4 | 0 | 3 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0003c0009 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0004c0006 | 0/0 | 1963 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0005c0007 | 0/0 | 1962 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0006c0010 | 0/0 | 1962 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2528 | 202 | 49 | 36 | 91 | 5 | 19 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0001t0002 | 0/0 | 2528 | 2 | 0 | 0 | 2 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0001t0003 | 0/0 | 2524 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0001t0005 | 0/0 | 2526 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0001t0006 | 0/0 | 2528 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0003t0001 | 0/0 | 2528 | 4 | 4 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0004t0001 | 0/0 | 2528 | 3 | 2 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0005t0001 | 0/0 | 2528 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0001c0008t0001 | 0/0 | 2528 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0002c0002t0001 | 0/0 | 2528 | 4 | 0 | 3 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0003c0009t0001 | 0/0 | 2528 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0004c0006t0004 | 0/0 | 2529 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0005c0007t0001 | 0/0 | 2528 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| a0006c0010t0001 | 0/0 | 2528 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | copy fasta | chrX | 18702645 | 18832917 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0034 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0124 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0003g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0005g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0001t0006g0006 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0003t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0003t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0003t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0003t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0004t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0004t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0004t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0005t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0001c0008t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0003c0009t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0004c0006t0004g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0005c0007t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| a0006c0010t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0002 | c0002 | t0001 | g0066 | EUR | GBR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0120 | EUR | FIN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0170 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | CHS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0211 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0092 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0091 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01074 | hp1 | a0002 | c0002 | t0001 | g0049 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0205 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0201 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01106 | hp1 | a0001 | c0004 | t0001 | g0114 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0128 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0122 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01346 | hp1 | a0002 | c0002 | t0001 | g0048 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0024 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0037 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0181 | AMR | CLM | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0068 | EUR | IBS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0137 | EUR | IBS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0069 | EUR | IBS | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01884 | hp1 | a0001 | c0004 | t0001 | g0088 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0216 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0204 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02015 | hp1 | a0005 | c0007 | t0001 | g0129 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | KHV | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0173 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0106 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02451 | hp1 | a0001 | c0003 | t0001 | g0084 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02451 | hp2 | a0001 | c0004 | t0001 | g0079 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02572 | hp1 | a0001 | c0008 | t0001 | g0080 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0220 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0078 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0189 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0132 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02976 | hp2 | a0001 | c0003 | t0001 | g0083 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03098 | hp1 | a0001 | c0005 | t0001 | g0182 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03209 | hp1 | a0001 | c0003 | t0001 | g0115 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0133 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0159 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0192 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0193 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0150 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03516 | hp2 | a0003 | c0009 | t0001 | g0004 | AFR | ESN | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0094 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0041 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | STU | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0097 | SAS | PJL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | BEB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0197 | SAS | BEB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0010 | SAS | BEB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | STU | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG04199 | hp1 | a0006 | c0010 | t0001 | g0213 | SAS | STU | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0208 | SAS | STU | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0203 | SAS | STU | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0199 | AFR | YRI | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | CHB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | CHB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | YRI | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | YRI | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18944 | hp1 | a0001 | c0001 | t0005 | g0146 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0215 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18967 | hp1 | a0004 | c0006 | t0004 | g0218 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18974 | hp1 | a0001 | c0001 | t0003 | g0147 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | LWK | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0179 | AFR | LWK | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | LWK | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA20129 | hp1 | a0001 | c0003 | t0001 | g0082 | AFR | ASW | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | ASW | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA20752 | hp1 | a0001 | c0001 | t0006 | g0006 | EUR | TSI | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0036 | EUR | TSI | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0163 | SAS | GIH | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0105 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | MSL | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0153 | AFR | LWK | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | LWK | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0124 | REF | REF | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0034 | REF | REF | PPEF1_chrX_18702645_18832917 | PPEF1 | chrX | 18702645 | 18832917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18733793
|
C | T | 1 | a0006 | 1 | HG04199.hp1 | missense_variant | MODERATE | c.220C>T | p.His74Tyr | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/16 | 356/2528 | 220/1962 | 74/653 | chrX | 18733793 | ||
| chrX:18749827
|
A | T | 1 | a0003 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.271A>T | p.Met91Leu | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/16 | 407/2528 | 271/1962 | 91/653 | chrX | 18749827 | ||
| chrX:18783953
|
A | G | 1 | a0005 | 1 | HG02015.hp1 | missense_variant | MODERATE | c.817A>G | p.Ile273Val | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/16 | 953/2528 | 817/1962 | 273/653 | chrX | 18783953 | ||
| chrX:18806478
|
G | A | 1 | a0002 | 4 | HG00140.hp1 HG01074.hp1 HG01346.hp1 others(1): Show |
missense_variant | MODERATE | c.1327G>A | p.Gly443Ser | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/16 | 1463/2528 | 1327/1962 | 443/653 | chrX | 18806478 | ||
| chrX:18823943
|
T | TG | 1 | a0004 | 1 | NA18967.hp1 | frameshift_variant | HIGH | c.1525dupG | p.Ala509fs | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/16 | 1662/2528 | 1526/1962 | 509/653 | INFO_REALIGN_3_PRIME | chrX | 18823943 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18749853
|
C | T | 1 | a0001c0008 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.297C>T | p.Asp99Asp | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/16 | 433/2528 | 297/1962 | 99/653 | chrX | 18749853 | ||
| chrX:18779018
|
C | T | 2 | a0001c0004a0001c0008 | 4 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(1): Show |
synonymous_variant | LOW | c.567C>T | p.Leu189Leu | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/16 | 703/2528 | 567/1962 | 189/653 | chrX | 18779018 | ||
| chrX:18779087
|
C | A | 1 | a0001c0005 | 1 | HG03098.hp1 | synonymous_variant | LOW | c.636C>A | p.Ile212Ile | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/16 | 772/2528 | 636/1962 | 212/653 | chrX | 18779087 | ||
| chrX:18784036
|
A | G | 1 | a0001c0003 | 4 | HG02451.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
synonymous_variant | LOW | c.900A>G | p.Val300Val | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/16 | 1036/2528 | 900/1962 | 300/653 | chrX | 18784036 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18707679
|
C | T | 1 | a0001c0001t0006 | 1 | NA20752.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-102C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/16 | chrX | 18707679 | ||||||
| chrX:18827620
|
T | C | 1 | a0001c0001t0002 | 2 | HG00438.hp1 NA18953.hp1 |
3_prime_UTR_variant | MODIFIER | c.*133T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 133 | chrX | 18827620 | |||||
| chrX:18827695
|
GGT | G | 1 | a0001c0001t0005 | 1 | NA18944.hp1 | 3_prime_UTR_variant | MODIFIER | c.*209_*210delGT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 209 | chrX | 18827695 | |||||
| chrX:18827725
|
GTGA | G | 1 | a0001c0001t0003 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*239_*241delTGA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 239 | chrX | 18827725 | |||||
| chrX:18827772
|
AC | A | 1 | a0001c0001t0003 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*287delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 287 | INFO_REALIGN_3_PRIME | chrX | 18827772 | ||||
| chrX:18827867
|
G | GA | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*381dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 382 | INFO_REALIGN_3_PRIME | chrX | 18827867 | ||||
| chrX:18827871
|
G | C | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*384G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 384 | chrX | 18827871 | |||||
| chrX:18827872
|
G | T | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*385G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 385 | chrX | 18827872 | |||||
| chrX:18827873
|
AG | A | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*388delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 388 | INFO_REALIGN_3_PRIME | chrX | 18827873 | ||||
| chrX:18827877
|
A | T | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*390A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 390 | chrX | 18827877 | |||||
| chrX:18827878
|
T | C | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*391T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 391 | chrX | 18827878 | |||||
| chrX:18827879
|
A | G | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*392A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 392 | chrX | 18827879 | |||||
| chrX:18827881
|
C | G | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*394C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 394 | chrX | 18827881 | |||||
| chrX:18827882
|
A | T | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*395A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 395 | chrX | 18827882 | |||||
| chrX:18827884
|
G | T | 1 | a0004c0006t0004 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*397G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 16/16 | 397 | chrX | 18827884 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18708463
|
CTT | C | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.46+638_46+639delTT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18708463 | ||||||
| chrX:18708664
|
G | A | 2 | a0001c0001t0001g0005a0001c0001t0006g0006 | 2 | HG03490.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.46+838G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18708664 | ||||||
| chrX:18708789
|
T | G | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.46+963T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18708789 | ||||||
| chrX:18708955
|
T | A | 1 | a0001c0001t0001g0008 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.46+1129T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18708955 | ||||||
| chrX:18709115
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.46+1289G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709115 | ||||||
| chrX:18709316
|
GA | G | 1 | a0001c0001t0001g0221 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.46+1491delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709316 | ||||||
| chrX:18709332
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.46+1506G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709332 | ||||||
| chrX:18709502
|
G | GT | 122 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0076others(119): Show | 123 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.46+1682dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18709502 | |||||
| chrX:18709502
|
G | GTT | 26 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0196others(23): Show | 26 | HG00597.hp2 HG00741.hp2 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.46+1681_46+1682dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18709502 | |||||
| chrX:18709502
|
G | GTTT | 2 | a0001c0001t0001g0220a0001c0001t0001g0221 | 2 | HG02615.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.46+1680_46+1682dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18709502 | |||||
| chrX:18709508
|
TG | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.46+1683delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709508 | ||||||
| chrX:18709509
|
G | T | 155 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(152): Show | 156 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(153): Show |
intron_variant | MODIFIER | c.46+1683G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709509 | ||||||
| chrX:18709561
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.46+1735G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709561 | ||||||
| chrX:18709745
|
G | A | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.46+1919G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709745 | ||||||
| chrX:18709933
|
T | C | 2 | a0001c0001t0001g0077a0001c0001t0001g0078 | 2 | HG02622.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.46+2107T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709933 | ||||||
| chrX:18709979
|
A | G | 2 | a0001c0001t0001g0194a0001c0001t0001g0195 | 2 | HG02257.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.46+2153A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18709979 | ||||||
| chrX:18710479
|
GA | G | 1 | a0001c0001t0001g0008 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.46+2661delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18710479 | |||||
| chrX:18710485
|
A | T | 2 | a0001c0001t0001g0192a0001c0001t0001g0193 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.46+2659A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710485 | ||||||
| chrX:18710547
|
T | C | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.46+2721T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710547 | ||||||
| chrX:18710600
|
G | A | 35 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(32): Show | 35 | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(32): Show |
intron_variant | MODIFIER | c.46+2774G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710600 | ||||||
| chrX:18710633
|
C | T | 17 | a0001c0001t0001g0009a0001c0001t0001g0081a0001c0001t0001g0085others(14): Show | 17 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.46+2807C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710633 | ||||||
| chrX:18710892
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.46+3066C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710892 | ||||||
| chrX:18710915
|
A | C | 16 | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0086others(13): Show | 16 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.46+3089A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18710915 | ||||||
| chrX:18710985
|
A | AGT | 16 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0196others(13): Show | 16 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(13): Show |
intron_variant | MODIFIER | c.46+3172_46+3173dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18710985 | |||||
| chrX:18711014
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.46+3188G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711014 | ||||||
| chrX:18711078
|
ATG | A | 3 | a0001c0001t0001g0009a0001c0004t0001g0079a0001c0008t0001g0080 | 3 | HG02451.hp2 HG02572.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.46+3266_46+3267del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711078 | |||||
| chrX:18711090
|
G | GTA | 108 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0075others(105): Show | 109 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(106): Show |
intron_variant | MODIFIER | c.46+3265_46+3266ins others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711090 | |||||
| chrX:18711090
|
G | GTATA | 22 | a0001c0001t0001g0010a0001c0001t0001g0094a0001c0001t0001g0095others(19): Show | 22 | HG00741.hp2 HG01081.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.46+3265_46+3266ins others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711090 | |||||
| chrX:18711090
|
G | GTATATA | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.46+3265_46+3266ins others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711090 | |||||
| chrX:18711092
|
G | A | 148 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(145): Show | 149 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(146): Show |
intron_variant | MODIFIER | c.46+3266G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711092 | ||||||
| chrX:18711092
|
G | GTA | 2 | a0001c0001t0001g0012a0001c0001t0001g0190 | 2 | HG00544.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.46+3280_46+3281dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711092 | |||||
| chrX:18711384
|
A | G | 3 | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0212 | 3 | HG00741.hp2 HG01081.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.46+3558A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711384 | ||||||
| chrX:18711400
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.46+3574G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711400 | ||||||
| chrX:18711490
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.46+3664G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711490 | ||||||
| chrX:18711586
|
A | G | 1 | a0001c0001t0001g0209 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.46+3760A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711586 | ||||||
| chrX:18711672
|
A | ATGT | 156 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(153): Show | 157 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.46+3848_46+3850dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711672 | |||||
| chrX:18711754
|
C | CT | 119 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0071others(116): Show | 120 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(117): Show |
intron_variant | MODIFIER | c.46+3945dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711754 | |||||
| chrX:18711754
|
C | CTT | 4 | a0001c0001t0001g0074a0001c0001t0001g0186a0001c0001t0001g0187others(1): Show | 4 | HG02630.hp1 HG03516.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.46+3944_46+3945dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711754 | |||||
| chrX:18711754
|
CT | C | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.46+3945delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18711754 | |||||
| chrX:18711878
|
C | T | 19 | a0001c0001t0001g0009a0001c0001t0001g0070a0001c0001t0001g0075others(16): Show | 19 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.46+4052C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711878 | ||||||
| chrX:18711995
|
G | A | 17 | a0001c0001t0001g0009a0001c0001t0001g0081a0001c0001t0001g0085others(14): Show | 17 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.46+4169G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711995 | ||||||
| chrX:18711999
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.46+4173G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18711999 | ||||||
| chrX:18712216
|
G | C | 20 | a0001c0001t0001g0009a0001c0001t0001g0081a0001c0001t0001g0085others(17): Show | 20 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.46+4390G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18712216 | ||||||
| chrX:18712733
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.46+4907T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18712733 | ||||||
| chrX:18712896
|
T | A | 3 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101 | 3 | NA18964.hp1 NA18969.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.46+5070T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18712896 | ||||||
| chrX:18713077
|
A | G | 2 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.46+5251A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713077 | ||||||
| chrX:18713165
|
C | T | 21 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0185others(18): Show | 21 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
intron_variant | MODIFIER | c.46+5339C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713165 | ||||||
| chrX:18713203
|
C | A | 1 | a0001c0001t0001g0197 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.46+5377C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713203 | ||||||
| chrX:18713334
|
T | C | 1 | a0001c0001t0001g0014 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.46+5508T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713334 | ||||||
| chrX:18713420
|
C | CT | 1 | a0001c0001t0001g0067 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.46+5612dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTT | 6 | a0001c0001t0001g0098a0001c0001t0001g0103a0001c0001t0001g0104others(3): Show | 6 | HG00544.hp2 HG01109.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.46+5610_46+5612dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTT | 102 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0075others(99): Show | 103 | HG00280.hp1 HG00438.hp1 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.46+5609_46+5612dup others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTT | 5 | a0001c0001t0001g0009a0001c0001t0001g0183a0001c0001t0001g0184others(2): Show | 5 | HG01978.hp2 HG03098.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.46+5608_46+5612dup others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTTTT | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.46+5606_46+5612dup others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTTTT others(2): Show |
2 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | HG03927.hp2 NA18957.hp2 |
intron_variant | MODIFIER | c.46+5604_46+5612dup others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTTTT others(3): Show |
11 | a0001c0001t0001g0010a0001c0001t0001g0185a0001c0001t0001g0199others(8): Show | 11 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.46+5603_46+5612dup others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTTTT others(4): Show |
6 | a0001c0001t0001g0007a0001c0001t0001g0196a0001c0001t0001g0207others(3): Show | 6 | HG02615.hp1 HG02886.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.46+5602_46+5612dup others(11): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
C | CTTTTTTT others(7): Show |
1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.46+5599_46+5612dup others(14): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
CT | C | 1 | a0001c0001t0001g0015 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.46+5612delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
CTTT | C | 2 | a0001c0001t0001g0102a0001c0001t0001g0186 | 2 | NA18984.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.46+5610_46+5612del others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713420
|
CTTTTTTT | C | 16 | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0086others(13): Show | 16 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.46+5606_46+5612del others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18713420 | |||||
| chrX:18713621
|
A | G | 2 | a0001c0001t0001g0015a0002c0002t0001g0066 | 2 | HG00140.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.46+5795A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713621 | ||||||
| chrX:18713662
|
T | A | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+5836T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18713662 | ||||||
| chrX:18714060
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.46+6234G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714060 | ||||||
| chrX:18714269
|
G | GT | 86 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0076others(83): Show | 87 | HG00280.hp1 HG00544.hp2 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.46+6450dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714269 | |||||
| chrX:18714269
|
G | GTT | 35 | a0001c0001t0001g0078a0001c0001t0001g0167a0001c0001t0001g0168others(32): Show | 35 | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
intron_variant | MODIFIER | c.46+6449_46+6450dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714269 | |||||
| chrX:18714269
|
G | GTTT | 9 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0075others(6): Show | 9 | HG01081.hp1 HG01978.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.46+6448_46+6450dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714269 | |||||
| chrX:18714274
|
TTTG | T | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02293.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.46+6451_46+6453del others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714274 | |||||
| chrX:18714275
|
TTG | T | 2 | a0001c0001t0001g0195a0001c0001t0001g0209 | 2 | HG02257.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.46+6451_46+6452del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714275 | |||||
| chrX:18714277
|
G | GT | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(41): Show | 45 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.46+6463dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714277 | |||||
| chrX:18714277
|
G | T | 132 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(129): Show | 133 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(130): Show |
intron_variant | MODIFIER | c.46+6451G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714277 | ||||||
| chrX:18714298
|
A | G | 145 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(142): Show | 146 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(143): Show |
intron_variant | MODIFIER | c.46+6472A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714298 | ||||||
| chrX:18714333
|
G | A | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.46+6507G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714333 | ||||||
| chrX:18714381
|
C | T | 1 | a0001c0001t0001g0166 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.46+6555C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714381 | ||||||
| chrX:18714429
|
G | A | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.46+6603G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714429 | ||||||
| chrX:18714514
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.46+6688G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714514 | ||||||
| chrX:18714634
|
T | C | 156 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(153): Show | 157 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.46+6808T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714634 | ||||||
| chrX:18714643
|
A | G | 2 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.46+6817A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714643 | ||||||
| chrX:18714657
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.46+6831C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714657 | ||||||
| chrX:18714875
|
C | A | 1 | a0001c0001t0001g0167 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.46+7049C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714875 | ||||||
| chrX:18714885
|
C | G | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.46+7059C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18714885 | ||||||
| chrX:18714942
|
G | GT | 1 | a0001c0001t0001g0165 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.46+7122dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18714942 | |||||
| chrX:18715089
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.46+7263C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715089 | ||||||
| chrX:18715138
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.46+7312G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715138 | ||||||
| chrX:18715153
|
GC | G | 1 | a0001c0001t0001g0111 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.46+7330delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18715153 | |||||
| chrX:18715222
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.46+7396G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715222 | ||||||
| chrX:18715397
|
C | T | 2 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | HG01496.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.46+7571C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715397 | ||||||
| chrX:18715398
|
G | T | 2 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | HG01496.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.46+7572G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715398 | ||||||
| chrX:18715533
|
C | CA | 1 | a0001c0001t0001g0167 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.46+7717dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18715533 | |||||
| chrX:18715762
|
T | C | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.46+7936T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18715762 | ||||||
| chrX:18716042
|
G | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.46+8216G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716042 | ||||||
| chrX:18716259
|
G | A | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+8433G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716259 | ||||||
| chrX:18716303
|
C | T | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+8477C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716303 | ||||||
| chrX:18716364
|
T | C | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.46+8538T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716364 | ||||||
| chrX:18716511
|
G | A | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.46+8685G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716511 | ||||||
| chrX:18716531
|
C | CA | 10 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0021others(7): Show | 10 | HG01515.hp1 HG01884.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.46+8728dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716531
|
C | CAA | 17 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0016others(14): Show | 17 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(14): Show |
intron_variant | MODIFIER | c.46+8727_46+8728dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716531
|
C | CAAA | 4 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0199others(1): Show | 4 | HG02886.hp2 HG03927.hp2 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.46+8726_46+8728dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716531
|
CA | C | 113 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0033others(110): Show | 114 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(111): Show |
intron_variant | MODIFIER | c.46+8728delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716531
|
CAA | C | 2 | a0001c0001t0001g0163a0001c0001t0001g0164 | 2 | NA19086.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.46+8727_46+8728del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716531
|
CAAAA | C | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+8725_46+8728del others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716531 | |||||
| chrX:18716558
|
A | T | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.46+8732A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716558 | ||||||
| chrX:18716622
|
C | T | 5 | a0001c0001t0001g0107a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG02040.hp1 HG02129.hp1 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.46+8796C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716622 | ||||||
| chrX:18716668
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.46+8842C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716668 | ||||||
| chrX:18716856
|
G | A | 2 | a0001c0001t0001g0077a0001c0001t0001g0078 | 2 | HG02622.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.46+9030G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18716856 | ||||||
| chrX:18716915
|
TC | T | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.46+9092delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18716915 | |||||
| chrX:18717023
|
G | T | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+9197G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717023 | ||||||
| chrX:18717067
|
C | CT | 2 | a0001c0001t0001g0032a0001c0001t0001g0071 | 2 | NA18941.hp2 NA18956.hp2 |
intron_variant | MODIFIER | c.46+9255dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18717067 | |||||
| chrX:18717067
|
CT | C | 18 | a0001c0001t0001g0009a0001c0001t0001g0081a0001c0001t0001g0085others(15): Show | 18 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.46+9255delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18717067 | |||||
| chrX:18717101
|
A | T | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.46+9275A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717101 | ||||||
| chrX:18717103
|
T | A | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.46+9277T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717103 | ||||||
| chrX:18717144
|
C | T | 16 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0196others(13): Show | 16 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(13): Show |
intron_variant | MODIFIER | c.46+9318C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717144 | ||||||
| chrX:18717253
|
A | T | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.46+9427A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717253 | ||||||
| chrX:18717255
|
G | A | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.46+9429G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717255 | ||||||
| chrX:18717399
|
C | G | 2 | a0001c0001t0001g0098a0001c0008t0001g0080 | 2 | HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.46+9573C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717399 | ||||||
| chrX:18717506
|
G | T | 1 | a0001c0001t0001g0087 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.46+9680G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717506 | ||||||
| chrX:18717652
|
C | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(1): Show | 4 | HG01070.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.46+9826C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717652 | ||||||
| chrX:18717808
|
T | C | 12 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(9): Show | 12 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(9): Show |
intron_variant | MODIFIER | c.46+9982T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717808 | ||||||
| chrX:18717898
|
A | T | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.46+10072A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717898 | ||||||
| chrX:18717902
|
C | T | 12 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(9): Show | 12 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(9): Show |
intron_variant | MODIFIER | c.46+10076C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717902 | ||||||
| chrX:18717933
|
C | G | 1 | a0001c0001t0001g0168 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.46+10107C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18717933 | ||||||
| chrX:18718098
|
A | G | 13 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(10): Show | 13 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.46+10272A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718098 | ||||||
| chrX:18718107
|
A | G | 13 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(10): Show | 13 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.46+10281A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718107 | ||||||
| chrX:18718166
|
C | T | 1 | a0001c0001t0001g0212 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.46+10340C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718166 | ||||||
| chrX:18718273
|
C | A | 13 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(10): Show | 13 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.46+10447C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718273 | ||||||
| chrX:18718319
|
C | G | 1 | a0001c0001t0001g0050 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.46+10493C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718319 | ||||||
| chrX:18718342
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.46+10516G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718342 | ||||||
| chrX:18718513
|
C | A | 2 | a0001c0001t0001g0098a0001c0008t0001g0080 | 2 | HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.46+10687C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718513 | ||||||
| chrX:18718545
|
G | A | 1 | a0001c0001t0001g0166 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.46+10719G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718545 | ||||||
| chrX:18718631
|
A | C | 1 | a0001c0001t0001g0160 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.46+10805A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718631 | ||||||
| chrX:18718998
|
G | T | 13 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(10): Show | 13 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.46+11172G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18718998 | ||||||
| chrX:18719340
|
C | CT | 1 | a0001c0001t0001g0191 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.47-10824dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18719340 | |||||
| chrX:18719340
|
CT | C | 22 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(19): Show | 23 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.47-10824delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18719340 | |||||
| chrX:18719372
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.47-10809G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18719372 | ||||||
| chrX:18719408
|
G | A | 1 | a0002c0002t0001g0037 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.47-10773G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18719408 | ||||||
| chrX:18719688
|
T | C | 2 | a0001c0001t0001g0192a0001c0001t0001g0193 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.47-10493T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18719688 | ||||||
| chrX:18719937
|
G | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.47-10244G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18719937 | ||||||
| chrX:18720224
|
C | T | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.47-9957C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720224 | ||||||
| chrX:18720235
|
GGA | G | 91 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(88): Show | 93 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.47-9927_47-9926del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18720235 | |||||
| chrX:18720275
|
C | T | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(55): Show | 59 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.47-9906C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720275 | ||||||
| chrX:18720277
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.47-9904A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720277 | ||||||
| chrX:18720324
|
G | C | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.47-9857G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720324 | ||||||
| chrX:18720386
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.47-9795G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720386 | ||||||
| chrX:18720472
|
G | A | 21 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(18): Show | 22 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.47-9709G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720472 | ||||||
| chrX:18720497
|
C | T | 3 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020 | 4 | HG01243.hp1 HG02109.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-9684C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720497 | ||||||
| chrX:18720547
|
G | A | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.47-9634G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720547 | ||||||
| chrX:18720591
|
C | CA | 3 | a0001c0001t0001g0188a0001c0001t0001g0214a0001c0005t0001g0182 | 3 | HG02965.hp1 HG03098.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.47-9580dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18720591 | |||||
| chrX:18720863
|
C | T | 69 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(66): Show | 70 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.47-9318C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720863 | ||||||
| chrX:18720968
|
G | C | 68 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(65): Show | 69 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.47-9213G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18720968 | ||||||
| chrX:18721098
|
G | C | 1 | a0001c0001t0001g0011 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.47-9083G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721098 | ||||||
| chrX:18721229
|
C | T | 68 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(65): Show | 69 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.47-8952C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721229 | ||||||
| chrX:18721535
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.47-8646G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721535 | ||||||
| chrX:18721565
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(88): Show |
intron_variant | MODIFIER | c.47-8616G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721565 | ||||||
| chrX:18721597
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.47-8584G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721597 | ||||||
| chrX:18721939
|
C | T | 10 | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.47-8242C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18721939 | ||||||
| chrX:18722034
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.47-8147G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722034 | ||||||
| chrX:18722118
|
C | T | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.47-8063C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722118 | ||||||
| chrX:18722205
|
A | G | 8 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(5): Show | 9 | HG01243.hp1 HG02109.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.47-7976A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722205 | ||||||
| chrX:18722333
|
C | G | 1 | a0001c0001t0001g0158 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.47-7848C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722333 | ||||||
| chrX:18722355
|
C | G | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-7826C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722355 | ||||||
| chrX:18722409
|
G | C | 1 | a0001c0004t0001g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.47-7772G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722409 | ||||||
| chrX:18722452
|
A | C | 1 | a0001c0001t0001g0221 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.47-7729A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722452 | ||||||
| chrX:18722614
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.47-7567T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722614 | ||||||
| chrX:18722690
|
A | G | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-7491A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722690 | ||||||
| chrX:18722715
|
G | A | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(78): Show | 83 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.47-7466G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722715 | ||||||
| chrX:18722824
|
A | G | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.47-7357A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722824 | ||||||
| chrX:18722842
|
G | A | 1 | a0001c0001t0001g0023 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.47-7339G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722842 | ||||||
| chrX:18722907
|
G | A | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.47-7274G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18722907 | ||||||
| chrX:18722988
|
A | AT | 23 | a0001c0001t0001g0012a0001c0001t0001g0061a0001c0001t0001g0062others(20): Show | 23 | HG00544.hp1 HG00597.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.47-7179dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18722988 | |||||
| chrX:18723023
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.47-7158C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723023 | ||||||
| chrX:18723071
|
G | A | 12 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 12 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.47-7110G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723071 | ||||||
| chrX:18723164
|
T | C | 1 | a0001c0001t0001g0121 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.47-7017T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723164 | ||||||
| chrX:18723230
|
C | G | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-6951C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723230 | ||||||
| chrX:18723275
|
A | G | 1 | a0001c0001t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.47-6906A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723275 | ||||||
| chrX:18723548
|
C | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-6633C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723548 | ||||||
| chrX:18723598
|
A | T | 3 | a0001c0001t0001g0102a0001c0001t0001g0164a0001c0001t0001g0186 | 3 | NA18984.hp1 NA18994.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.47-6583A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723598 | ||||||
| chrX:18723665
|
T | A | 1 | a0001c0001t0001g0122 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.47-6516T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723665 | ||||||
| chrX:18723740
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.47-6441C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723740 | ||||||
| chrX:18723744
|
A | G | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.47-6437A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723744 | ||||||
| chrX:18723769
|
C | T | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.47-6412C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723769 | ||||||
| chrX:18723783
|
A | AT | 2 | a0001c0001t0001g0030a0001c0001t0001g0178 | 2 | HG03491.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.47-6384dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18723783 | |||||
| chrX:18723822
|
C | T | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(58): Show | 63 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.47-6359C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723822 | ||||||
| chrX:18723827
|
T | C | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-6354T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723827 | ||||||
| chrX:18723872
|
C | T | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-6309C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723872 | ||||||
| chrX:18723880
|
A | G | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.47-6301A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723880 | ||||||
| chrX:18723916
|
A | T | 1 | a0001c0001t0001g0072 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.47-6265A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723916 | ||||||
| chrX:18723984
|
C | T | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-6197C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18723984 | ||||||
| chrX:18724033
|
T | C | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.47-6148T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724033 | ||||||
| chrX:18724076
|
T | C | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.47-6105T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724076 | ||||||
| chrX:18724078
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(1): Show | 4 | HG01070.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-6103G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724078 | ||||||
| chrX:18724220
|
T | G | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.47-5961T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724220 | ||||||
| chrX:18724309
|
G | A | 1 | a0001c0001t0001g0061 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.47-5872G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724309 | ||||||
| chrX:18724388
|
G | T | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-5793G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724388 | ||||||
| chrX:18724389
|
C | T | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-5792C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724389 | ||||||
| chrX:18724399
|
C | T | 1 | a0001c0001t0001g0086 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.47-5782C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724399 | ||||||
| chrX:18724427
|
G | C | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-5754G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724427 | ||||||
| chrX:18724524
|
G | A | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-5657G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724524 | ||||||
| chrX:18724600
|
C | G | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-5581C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724600 | ||||||
| chrX:18724635
|
C | T | 2 | a0002c0002t0001g0048a0002c0002t0001g0049 | 2 | HG01074.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.47-5546C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724635 | ||||||
| chrX:18724636
|
G | A | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-5545G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724636 | ||||||
| chrX:18724777
|
G | T | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.47-5404G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724777 | ||||||
| chrX:18724778
|
G | A | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.47-5403G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724778 | ||||||
| chrX:18724815
|
T | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.47-5366T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724815 | ||||||
| chrX:18724902
|
A | T | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-5279A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18724902 | ||||||
| chrX:18725064
|
A | AC | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-5113dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18725064 | |||||
| chrX:18725169
|
T | C | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.47-5012T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18725169 | ||||||
| chrX:18725314
|
C | T | 1 | a0001c0001t0001g0090 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.47-4867C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18725314 | ||||||
| chrX:18725315
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-4866G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18725315 | ||||||
| chrX:18725458
|
A | G | 1 | a0001c0001t0001g0217 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.47-4723A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18725458 | ||||||
| chrX:18725597
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-4584G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18725597 | ||||||
| chrX:18726096
|
C | T | 1 | a0006c0010t0001g0213 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.47-4085C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18726096 | ||||||
| chrX:18726226
|
C | T | 1 | a0001c0001t0001g0167 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.47-3955C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18726226 | ||||||
| chrX:18726351
|
C | CAAAT | 53 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(50): Show | 54 | HG00544.hp1 HG00558.hp2 HG00741.hp1 others(51): Show |
intron_variant | MODIFIER | c.47-3789_47-3786dup others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726351 | |||||
| chrX:18726351
|
C | CAAATAAA others(1): Show |
17 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(14): Show | 18 | HG01243.hp1 HG01346.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.47-3793_47-3786dup others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726351 | |||||
| chrX:18726351
|
C | CAAATAAA others(5): Show |
3 | a0001c0001t0001g0047a0001c0001t0001g0200a0001c0001t0001g0207 | 3 | HG01256.hp1 NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.47-3797_47-3786dup others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726351 | |||||
| chrX:18726351
|
CAAAT | C | 9 | a0001c0001t0001g0112a0001c0001t0001g0150a0001c0001t0001g0151others(6): Show | 9 | HG01884.hp2 HG02257.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.47-3789_47-3786del others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726351 | |||||
| chrX:18726351
|
CAAATAAA others(1): Show |
C | 3 | a0001c0001t0001g0153a0001c0001t0001g0206a0001c0001t0001g0208 | 3 | HG02738.hp1 HG04204.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.47-3793_47-3786del others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726351 | |||||
| chrX:18726374
|
AT | A | 1 | a0001c0001t0001g0036 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.47-3806delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18726374 | ||||||
| chrX:18726568
|
T | C | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.47-3613T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18726568 | ||||||
| chrX:18726662
|
CT | C | 77 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(74): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.47-3507delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726662 | |||||
| chrX:18726662
|
CTT | C | 1 | a0001c0001t0001g0201 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.47-3508_47-3507del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18726662 | |||||
| chrX:18726862
|
A | G | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(54): Show | 58 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.47-3319A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18726862 | ||||||
| chrX:18727014
|
G | T | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031 | 3 | HG00558.hp1 HG03491.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.47-3167G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18727014 | ||||||
| chrX:18727029
|
A | G | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.47-3152A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18727029 | ||||||
| chrX:18727246
|
A | G | 2 | a0001c0001t0001g0044a0001c0001t0001g0046 | 2 | NA18968.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.47-2935A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18727246 | ||||||
| chrX:18727479
|
C | A | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.47-2702C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18727479 | ||||||
| chrX:18728015
|
C | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.47-2166C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728015 | ||||||
| chrX:18728124
|
A | G | 3 | a0001c0001t0001g0185a0001c0001t0001g0219a0001c0001t0001g0221 | 3 | NA18952.hp1 NA18969.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.47-2057A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728124 | ||||||
| chrX:18728143
|
C | T | 2 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.47-2038C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728143 | ||||||
| chrX:18728156
|
CCTCTCTC others(9): Show |
C | 1 | a0001c0001t0001g0112 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.47-2010_47-1995del others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18728156 | |||||
| chrX:18728184
|
T | G | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.47-1997T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728184 | ||||||
| chrX:18728188
|
GCT | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.47-1978_47-1977del others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18728188 | |||||
| chrX:18728199
|
C | CTA | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.47-1981_47-1980ins others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18728199 | |||||
| chrX:18728201
|
C | A | 13 | a0001c0001t0001g0007a0001c0001t0001g0072a0001c0001t0001g0073others(10): Show | 13 | HG01070.hp1 HG02257.hp1 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.47-1980C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728201 | ||||||
| chrX:18728203
|
C | A | 86 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(83): Show | 87 | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.47-1978C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728203 | ||||||
| chrX:18728203
|
C | CTA | 2 | a0001c0001t0001g0209a0001c0001t0001g0217 | 2 | HG00597.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.47-1968_47-1967dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18728203 | |||||
| chrX:18728205
|
A | C | 4 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0158others(1): Show | 4 | HG02293.hp1 NA18956.hp1 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.47-1976A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728205 | ||||||
| chrX:18728256
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.47-1925C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728256 | ||||||
| chrX:18728595
|
C | T | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.47-1586C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728595 | ||||||
| chrX:18728706
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.47-1475G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728706 | ||||||
| chrX:18728811
|
TG | T | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-1365delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18728811 | |||||
| chrX:18728842
|
A | G | 2 | a0001c0001t0001g0058a0001c0001t0001g0059 | 2 | NA18959.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.47-1339A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728842 | ||||||
| chrX:18728845
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0171 | 2 | HG00738.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.47-1336G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18728845 | ||||||
| chrX:18729047
|
C | A | 1 | a0001c0001t0001g0089 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.47-1134C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729047 | ||||||
| chrX:18729118
|
T | C | 5 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(2): Show | 5 | HG02559.hp1 HG02622.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.47-1063T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729118 | ||||||
| chrX:18729151
|
C | CATACCAG | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.47-1030_47-1029ins others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729151 | ||||||
| chrX:18729152
|
C | G | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.47-1029C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729152 | ||||||
| chrX:18729154
|
C | A | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.47-1027C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729154 | ||||||
| chrX:18729182
|
A | G | 1 | a0001c0001t0001g0167 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.47-999A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729182 | ||||||
| chrX:18729268
|
C | T | 1 | a0001c0001t0001g0153 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.47-913C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729268 | ||||||
| chrX:18729389
|
G | A | 1 | a0001c0001t0001g0127 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.47-792G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729389 | ||||||
| chrX:18729410
|
A | AT | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-770dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18729410 | |||||
| chrX:18729603
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.47-578G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729603 | ||||||
| chrX:18729696
|
A | G | 1 | a0001c0001t0001g0169 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.47-485A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729696 | ||||||
| chrX:18729806
|
T | TATG | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-374_47-372dupAT others(1): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18729806 | |||||
| chrX:18729815
|
GC | G | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-364delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18729815 | |||||
| chrX:18729820
|
GC | G | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-359delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18729820 | |||||
| chrX:18729848
|
AT | A | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.47-329delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | 18729848 | |||||
| chrX:18729893
|
A | G | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.47-288A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | chrX | 18729893 | ||||||
| chrX:18730641
|
A | G | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.174+333A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18730641 | ||||||
| chrX:18730673
|
C | G | 3 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087 | 3 | HG02055.hp1 HG02970.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.174+365C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18730673 | ||||||
| chrX:18730713
|
CT | C | 1 | a0001c0003t0001g0082 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.174+419delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | 18730713 | |||||
| chrX:18730727
|
T | C | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.174+419T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18730727 | ||||||
| chrX:18730818
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.174+510G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18730818 | ||||||
| chrX:18730924
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.174+616A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18730924 | ||||||
| chrX:18731020
|
AG | A | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.174+714delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | 18731020 | |||||
| chrX:18731111
|
C | T | 1 | a0001c0001t0001g0124 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.174+803C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731111 | ||||||
| chrX:18731168
|
T | A | 1 | a0001c0001t0001g0172 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.174+860T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731168 | ||||||
| chrX:18731283
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.174+975G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731283 | ||||||
| chrX:18731374
|
T | TAAGAACA others(301): Show |
1 | a0001c0001t0001g0169 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.174+1078_174+1079i others(310): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | 18731374 | |||||
| chrX:18731772
|
TC | T | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.174+1469delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | 18731772 | |||||
| chrX:18731790
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.174+1482C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731790 | ||||||
| chrX:18731956
|
A | G | 95 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(92): Show | 97 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(94): Show |
intron_variant | MODIFIER | c.174+1648A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731956 | ||||||
| chrX:18731973
|
G | A | 1 | a0001c0001t0001g0112 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.174+1665G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18731973 | ||||||
| chrX:18732110
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.175-1638C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18732110 | ||||||
| chrX:18732925
|
C | T | 1 | a0001c0001t0001g0188 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.175-823C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18732925 | ||||||
| chrX:18733408
|
A | T | 2 | a0001c0001t0001g0206a0001c0001t0001g0208 | 2 | HG02738.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.175-340A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18733408 | ||||||
| chrX:18733493
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.175-255G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18733493 | ||||||
| chrX:18733497
|
G | C | 14 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(11): Show | 14 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.175-251G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18733497 | ||||||
| chrX:18733521
|
G | A | 6 | a0001c0001t0001g0062a0001c0001t0001g0085a0001c0001t0001g0086others(3): Show | 6 | HG00597.hp1 HG02055.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.175-227G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2/15 | chrX | 18733521 | ||||||
| chrX:18734128
|
T | TTTA | 3 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0196 | 3 | HG02886.hp2 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.235+337_235+339dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18734128 | |||||
| chrX:18734128
|
T | TTTATTA | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.235+334_235+339dup others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18734128 | |||||
| chrX:18734291
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+483A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734291 | ||||||
| chrX:18734424
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.235+616C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734424 | ||||||
| chrX:18734531
|
A | T | 3 | a0001c0001t0001g0098a0001c0004t0001g0079a0001c0008t0001g0080 | 3 | HG02451.hp2 HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.235+723A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734531 | ||||||
| chrX:18734541
|
G | C | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.235+733G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734541 | ||||||
| chrX:18734588
|
T | C | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.235+780T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734588 | ||||||
| chrX:18734590
|
C | T | 1 | a0001c0001t0001g0183 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.235+782C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734590 | ||||||
| chrX:18734649
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.235+841C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734649 | ||||||
| chrX:18734723
|
G | A | 1 | a0001c0001t0001g0128 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.235+915G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734723 | ||||||
| chrX:18734735
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+927A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734735 | ||||||
| chrX:18734756
|
C | G | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.235+948C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734756 | ||||||
| chrX:18734761
|
C | T | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.235+953C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734761 | ||||||
| chrX:18734890
|
A | AT | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.235+1088dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18734890 | |||||
| chrX:18734906
|
G | A | 1 | a0001c0001t0001g0173 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.235+1098G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18734906 | ||||||
| chrX:18735114
|
G | A | 15 | a0001c0001t0001g0010a0001c0001t0001g0098a0001c0001t0001g0197others(12): Show | 15 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.235+1306G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735114 | ||||||
| chrX:18735169
|
T | A | 1 | a0001c0001t0001g0015 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.235+1361T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735169 | ||||||
| chrX:18735199
|
G | T | 3 | a0001c0001t0001g0098a0001c0004t0001g0079a0001c0008t0001g0080 | 3 | HG02451.hp2 HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.235+1391G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735199 | ||||||
| chrX:18735242
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+1434A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735242 | ||||||
| chrX:18735693
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+1885C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735693 | ||||||
| chrX:18735807
|
G | GC | 2 | a0001c0001t0001g0098a0001c0008t0001g0080 | 2 | HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.235+2000dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18735807 | |||||
| chrX:18735868
|
G | A | 5 | a0001c0001t0001g0107a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG02040.hp1 HG02129.hp1 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.235+2060G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735868 | ||||||
| chrX:18735941
|
G | A | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.235+2133G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18735941 | ||||||
| chrX:18736037
|
A | G | 1 | a0001c0001t0001g0166 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.235+2229A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736037 | ||||||
| chrX:18736066
|
G | A | 1 | a0005c0007t0001g0129 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.235+2258G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736066 | ||||||
| chrX:18736087
|
G | A | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.235+2279G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736087 | ||||||
| chrX:18736090
|
T | G | 91 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(88): Show | 93 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.235+2282T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736090 | ||||||
| chrX:18736123
|
T | C | 3 | a0001c0001t0001g0113a0001c0001t0001g0188a0001c0005t0001g0182 | 3 | HG02647.hp1 HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.235+2315T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736123 | ||||||
| chrX:18736580
|
C | A | 1 | a0001c0001t0001g0169 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.235+2772C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736580 | ||||||
| chrX:18736779
|
G | A | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.235+2971G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736779 | ||||||
| chrX:18736927
|
A | G | 8 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(5): Show | 8 | HG02071.hp1 NA18955.hp1 NA18956.hp2 others(5): Show |
intron_variant | MODIFIER | c.235+3119A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736927 | ||||||
| chrX:18736966
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.235+3158G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18736966 | ||||||
| chrX:18737122
|
T | C | 1 | a0001c0001t0001g0209 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.235+3314T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737122 | ||||||
| chrX:18737222
|
G | A | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.235+3414G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737222 | ||||||
| chrX:18737491
|
G | C | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.235+3683G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737491 | ||||||
| chrX:18737570
|
T | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+3762T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737570 | ||||||
| chrX:18737663
|
G | A | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.235+3855G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737663 | ||||||
| chrX:18737775
|
A | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(89): Show | 94 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.235+3967A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737775 | ||||||
| chrX:18737778
|
C | A | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(89): Show | 94 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.235+3970C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737778 | ||||||
| chrX:18737905
|
C | T | 2 | a0001c0001t0001g0160a0004c0006t0004g0218 | 2 | NA18962.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.235+4097C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737905 | ||||||
| chrX:18737976
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.235+4168G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18737976 | ||||||
| chrX:18738051
|
A | C | 14 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(11): Show | 14 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.235+4243A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738051 | ||||||
| chrX:18738116
|
T | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(89): Show | 94 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.235+4308T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738116 | ||||||
| chrX:18738151
|
A | G | 3 | a0001c0001t0001g0094a0001c0001t0001g0153a0001c0001t0001g0191 | 3 | HG02717.hp1 HG03540.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.235+4343A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738151 | ||||||
| chrX:18738161
|
G | A | 1 | a0001c0001t0001g0125 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.235+4353G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738161 | ||||||
| chrX:18738182
|
T | G | 8 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(5): Show | 9 | HG01243.hp1 HG02109.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.235+4374T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738182 | ||||||
| chrX:18738191
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.235+4383C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738191 | ||||||
| chrX:18738192
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.235+4384G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738192 | ||||||
| chrX:18738220
|
C | T | 3 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0071 | 3 | NA18941.hp2 NA18999.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.235+4412C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738220 | ||||||
| chrX:18738713
|
A | T | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.235+4905A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738713 | ||||||
| chrX:18738845
|
G | A | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.235+5037G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18738845 | ||||||
| chrX:18739087
|
C | T | 1 | a0001c0001t0001g0186 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.235+5279C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739087 | ||||||
| chrX:18739176
|
G | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.235+5368G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739176 | ||||||
| chrX:18739202
|
A | G | 12 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(9): Show | 12 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.235+5394A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739202 | ||||||
| chrX:18739420
|
A | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01243.hp1 HG02109.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.235+5612A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739420 | ||||||
| chrX:18739515
|
C | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(51): Show | 55 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.235+5707C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739515 | ||||||
| chrX:18739517
|
T | C | 11 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(8): Show | 12 | HG01243.hp1 HG02109.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.235+5709T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739517 | ||||||
| chrX:18739537
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | HG01070.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.235+5729C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739537 | ||||||
| chrX:18739574
|
C | T | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.235+5766C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739574 | ||||||
| chrX:18739750
|
A | AG | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.235+5944dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18739750 | |||||
| chrX:18739963
|
C | T | 1 | a0001c0001t0005g0146 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.235+6155C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739963 | ||||||
| chrX:18739968
|
G | C | 1 | a0001c0001t0001g0060 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.235+6160G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18739968 | ||||||
| chrX:18740068
|
A | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(51): Show | 55 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.235+6260A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740068 | ||||||
| chrX:18740097
|
C | A | 1 | a0001c0001t0001g0212 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.235+6289C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740097 | ||||||
| chrX:18740134
|
C | T | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(44): Show | 48 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.235+6326C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740134 | ||||||
| chrX:18740210
|
G | A | 1 | a0001c0001t0001g0002 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.235+6402G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740210 | ||||||
| chrX:18740248
|
C | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0067 | 2 | NA18957.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.235+6440C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740248 | ||||||
| chrX:18740261
|
A | C | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG01943.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.235+6453A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740261 | ||||||
| chrX:18740381
|
C | T | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.235+6573C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740381 | ||||||
| chrX:18740410
|
TCTC | T | 4 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(1): Show | 4 | HG02559.hp1 HG02622.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.235+6603_235+6605d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740410 | ||||||
| chrX:18740413
|
C | CT | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(40): Show | 44 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(41): Show |
intron_variant | MODIFIER | c.235+6619dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740413 | |||||
| chrX:18740413
|
C | CTT | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.235+6618_235+6619d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740413 | |||||
| chrX:18740413
|
CT | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0155 | 2 | HG01255.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.235+6619delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740413 | |||||
| chrX:18740440
|
C | T | 12 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(9): Show | 13 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.235+6632C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740440 | ||||||
| chrX:18740441
|
G | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0173 | 2 | HG00609.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.235+6633G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740441 | ||||||
| chrX:18740444
|
C | G | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.235+6636C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740444 | ||||||
| chrX:18740473
|
G | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+6665G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740473 | ||||||
| chrX:18740608
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.235+6800A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740608 | ||||||
| chrX:18740916
|
A | AT | 11 | a0001c0001t0001g0065a0001c0001t0001g0076a0001c0001t0001g0098others(8): Show | 11 | HG01106.hp1 HG01109.hp1 HG01928.hp1 others(8): Show |
intron_variant | MODIFIER | c.235+7130dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740916 | |||||
| chrX:18740916
|
AT | A | 6 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0125others(3): Show | 6 | HG00558.hp1 HG01943.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.235+7130delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740916 | |||||
| chrX:18740916
|
ATT | A | 12 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(9): Show | 13 | HG00741.hp1 HG01081.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.235+7129_235+7130d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740916 | |||||
| chrX:18740916
|
ATTT | A | 74 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(71): Show | 75 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.235+7128_235+7130d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740916 | |||||
| chrX:18740916
|
ATTTT | A | 3 | a0001c0001t0001g0016a0001c0001t0001g0051a0001c0004t0001g0079 | 3 | HG02451.hp2 HG02809.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.235+7127_235+7130d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18740916 | |||||
| chrX:18740988
|
G | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(88): Show |
intron_variant | MODIFIER | c.235+7180G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18740988 | ||||||
| chrX:18741067
|
A | G | 1 | a0001c0001t0005g0146 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.235+7259A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741067 | ||||||
| chrX:18741324
|
C | T | 17 | a0001c0001t0001g0010a0001c0001t0001g0072a0001c0001t0001g0073others(14): Show | 17 | HG01070.hp1 HG01081.hp1 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.235+7516C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741324 | ||||||
| chrX:18741365
|
A | T | 1 | a0001c0001t0001g0094 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.235+7557A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741365 | ||||||
| chrX:18741387
|
CATT | C | 1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.235+7580_235+7582d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741387 | ||||||
| chrX:18741424
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.235+7616G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741424 | ||||||
| chrX:18741762
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.235+7954G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741762 | ||||||
| chrX:18741768
|
G | T | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.235+7960G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741768 | ||||||
| chrX:18741772
|
C | CT | 8 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0062others(5): Show | 8 | HG00544.hp1 HG00597.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.235+7988dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741772
|
C | CTTTTTTT | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.235+7982_235+7988d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741772
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.235+7981_235+7988d others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741772
|
CT | C | 24 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0039others(21): Show | 24 | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(21): Show |
intron_variant | MODIFIER | c.235+7988delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741772
|
CTT | C | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.235+7987_235+7988d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741772
|
CTTTT | C | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.235+7985_235+7988d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18741772 | |||||
| chrX:18741852
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.236-7940G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741852 | ||||||
| chrX:18741951
|
G | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.236-7841G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18741951 | ||||||
| chrX:18742128
|
A | G | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(45): Show | 49 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.236-7664A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742128 | ||||||
| chrX:18742334
|
T | TA | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-7458_236-7457i others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742334 | ||||||
| chrX:18742351
|
A | G | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.236-7441A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742351 | ||||||
| chrX:18742388
|
CA | C | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-7402delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742388 | |||||
| chrX:18742708
|
GTGTGTTG others(9): Show |
G | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.236-7080_236-7065d others(18): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742708 | |||||
| chrX:18742734
|
A | AT | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-7057dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742734 | |||||
| chrX:18742745
|
A | AG | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-7046dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742745 | |||||
| chrX:18742814
|
A | C | 55 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(52): Show | 56 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(53): Show |
intron_variant | MODIFIER | c.236-6978A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742814 | ||||||
| chrX:18742850
|
G | GA | 2 | a0001c0001t0001g0076a0001c0001t0001g0206 | 2 | HG02738.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.236-6927dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742850 | |||||
| chrX:18742850
|
GA | G | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(54): Show | 58 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.236-6927delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742850 | |||||
| chrX:18742879
|
CT | C | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6908delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742879 | |||||
| chrX:18742933
|
A | G | 1 | a0001c0001t0001g0065 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.236-6859A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742933 | ||||||
| chrX:18742972
|
C | CT | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6820_236-6819i others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18742972 | ||||||
| chrX:18742975
|
CT | C | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6815delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18742975 | |||||
| chrX:18743030
|
TA | T | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6758delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743030 | |||||
| chrX:18743175
|
AC | A | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6615delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743175 | |||||
| chrX:18743185
|
A | AG | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6604dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743185 | |||||
| chrX:18743224
|
A | AG | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6567dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743224 | |||||
| chrX:18743261
|
G | GT | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6529dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743261 | |||||
| chrX:18743282
|
AC | A | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6508delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743282 | |||||
| chrX:18743404
|
A | AG | 1 | a0001c0001t0003g0147 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.236-6387dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743404 | |||||
| chrX:18743440
|
CTTTTTCT others(1): Show |
C | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.236-6346_236-6339d others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743440 | |||||
| chrX:18743446
|
C | CT | 13 | a0001c0001t0001g0007a0001c0001t0001g0065a0001c0001t0001g0072others(10): Show | 13 | HG01070.hp1 HG01106.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.236-6325dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
C | CTTT | 1 | a0001c0001t0001g0125 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.236-6327_236-6325d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
C | CTTTTTTT others(8): Show |
1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.236-6339_236-6325d others(17): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
C | CTTTTTTT others(9): Show |
1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.236-6340_236-6325d others(18): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
C | CTTTTTTT others(10): Show |
2 | a0001c0001t0001g0001a0001c0001t0001g0019 | 3 | HG01243.hp1 HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.236-6341_236-6325d others(19): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.236-6342_236-6325d others(20): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
CT | C | 53 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(50): Show | 54 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.236-6325delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
CTT | C | 4 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0058others(1): Show | 4 | HG01256.hp1 NA18747.hp1 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-6326_236-6325d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743446
|
CTTT | C | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.236-6327_236-6325d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18743446 | |||||
| chrX:18743450
|
T | C | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.236-6342T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18743450 | ||||||
| chrX:18743452
|
T | C | 1 | a0001c0001t0001g0111 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.236-6340T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18743452 | ||||||
| chrX:18743561
|
T | C | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.236-6231T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18743561 | ||||||
| chrX:18743568
|
G | T | 7 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(4): Show | 7 | HG02293.hp1 NA18956.hp1 NA18964.hp1 others(4): Show |
intron_variant | MODIFIER | c.236-6224G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18743568 | ||||||
| chrX:18743645
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.236-6147C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18743645 | ||||||
| chrX:18744000
|
C | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0058a0001c0001t0001g0059others(1): Show | 4 | HG00558.hp2 HG00597.hp1 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-5792C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744000 | ||||||
| chrX:18744138
|
G | A | 28 | a0001c0001t0001g0010a0001c0001t0001g0072a0001c0001t0001g0073others(25): Show | 28 | HG00140.hp1 HG01070.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.236-5654G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744138 | ||||||
| chrX:18744186
|
C | T | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.236-5606C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744186 | ||||||
| chrX:18744438
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.236-5354T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744438 | ||||||
| chrX:18744505
|
A | G | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.236-5287A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744505 | ||||||
| chrX:18744618
|
T | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.236-5174T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18744618 | ||||||
| chrX:18744717
|
GT | G | 4 | a0001c0001t0001g0124a0001c0001t0001g0171a0001c0001t0001g0174others(1): Show | 4 | HG00738.hp1 HG01192.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.236-5072delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18744717 | |||||
| chrX:18744771
|
GTAA | G | 14 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(11): Show | 14 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.236-5012_236-5010d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18744771 | |||||
| chrX:18745015
|
TA | T | 2 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.236-4771delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745015 | |||||
| chrX:18745088
|
A | AATATATA others(44): Show |
3 | a0001c0001t0001g0103a0001c0001t0001g0105a0001c0001t0001g0106 | 3 | HG01109.hp1 HG02109.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.236-4684_236-4634d others(53): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745088 | |||||
| chrX:18745096
|
T | TTATATAT others(15): Show |
2 | a0001c0001t0001g0042a0001c0001t0001g0053 | 2 | HG02132.hp1 NA18972.hp1 |
intron_variant | MODIFIER | c.236-4660_236-4639d others(24): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745096 | |||||
| chrX:18745118
|
ATATATAT others(22): Show |
A | 1 | a0001c0004t0001g0114 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.236-4662_236-4634d others(31): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745118 | |||||
| chrX:18745131
|
AATTAT | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.236-4653_236-4649d others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745131 | |||||
| chrX:18745153
|
AT | A | 1 | a0001c0001t0001g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.236-4637delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745153 | |||||
| chrX:18745161
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.236-4631A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745161 | ||||||
| chrX:18745208
|
T | TTA | 1 | a0001c0001t0001g0113 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.236-4570_236-4569d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745208 | |||||
| chrX:18745333
|
G | C | 59 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(56): Show | 61 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.236-4459G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745333 | ||||||
| chrX:18745360
|
C | T | 1 | a0002c0002t0001g0037 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.236-4432C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745360 | ||||||
| chrX:18745361
|
G | A | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.236-4431G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745361 | ||||||
| chrX:18745427
|
T | C | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.236-4365T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745427 | ||||||
| chrX:18745613
|
C | CT | 1 | a0001c0001t0001g0108 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.236-4177dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745613 | |||||
| chrX:18745674
|
C | CT | 1 | a0001c0001t0001g0108 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.236-4116dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745674 | |||||
| chrX:18745726
|
TA | T | 1 | a0001c0001t0001g0108 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.236-4063delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745726 | |||||
| chrX:18745733
|
A | AT | 1 | a0001c0001t0001g0108 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.236-4058dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18745733 | |||||
| chrX:18745994
|
T | C | 2 | a0001c0001t0001g0201a0001c0001t0001g0205 | 2 | HG01081.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.236-3798T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18745994 | ||||||
| chrX:18746237
|
A | T | 4 | a0001c0001t0001g0110a0001c0001t0001g0131a0001c0001t0001g0192others(1): Show | 4 | HG02602.hp1 HG02735.hp1 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.236-3555A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746237 | ||||||
| chrX:18746334
|
A | C | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-3458A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746334 | ||||||
| chrX:18746438
|
C | G | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(88): Show |
intron_variant | MODIFIER | c.236-3354C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746438 | ||||||
| chrX:18746501
|
C | A | 1 | a0001c0001t0001g0175 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.236-3291C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746501 | ||||||
| chrX:18746526
|
T | A | 1 | a0001c0001t0001g0183 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.236-3266T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746526 | ||||||
| chrX:18746735
|
T | C | 1 | a0001c0001t0001g0087 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.236-3057T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746735 | ||||||
| chrX:18746756
|
C | T | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(44): Show | 48 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.236-3036C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18746756 | ||||||
| chrX:18747191
|
G | C | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(58): Show | 63 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.236-2601G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18747191 | ||||||
| chrX:18747194
|
A | T | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.236-2598A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18747194 | ||||||
| chrX:18747273
|
A | T | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.236-2519A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18747273 | ||||||
| chrX:18747620
|
C | T | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.236-2172C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18747620 | ||||||
| chrX:18748665
|
T | C | 14 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(11): Show | 14 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.236-1127T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18748665 | ||||||
| chrX:18748953
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.236-839A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18748953 | ||||||
| chrX:18748954
|
A | G | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.236-838A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18748954 | ||||||
| chrX:18749241
|
C | G | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.236-551C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749241 | ||||||
| chrX:18749281
|
A | T | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(62): Show | 67 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(64): Show |
intron_variant | MODIFIER | c.236-511A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749281 | ||||||
| chrX:18749301
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.236-491C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749301 | ||||||
| chrX:18749682
|
C | T | 1 | a0001c0001t0001g0165 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.236-110C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749682 | ||||||
| chrX:18749759
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.236-33C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749759 | ||||||
| chrX:18749762
|
C | CCA | 1 | a0001c0001t0001g0204 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.236-30_236-29insCA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749762 | ||||||
| chrX:18749763
|
A | AC | 3 | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0207 | 3 | HG02071.hp1 HG03927.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.236-22dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | 18749763 | |||||
| chrX:18749763
|
A | C | 1 | a0001c0001t0001g0204 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.236-29A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | chrX | 18749763 | ||||||
| chrX:18750132
|
T | C | 1 | a0001c0001t0001g0040 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.396+180T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18750132 | ||||||
| chrX:18750312
|
G | A | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(54): Show | 58 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.396+360G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18750312 | ||||||
| chrX:18750747
|
A | T | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.396+795A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18750747 | ||||||
| chrX:18750852
|
T | G | 1 | a0001c0001t0001g0121 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.396+900T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18750852 | ||||||
| chrX:18750857
|
T | A | 62 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 64 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.396+905T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18750857 | ||||||
| chrX:18751490
|
A | G | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.396+1538A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18751490 | ||||||
| chrX:18751697
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01243.hp1 HG02109.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.396+1745T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18751697 | ||||||
| chrX:18751721
|
A | G | 56 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(53): Show | 57 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(54): Show |
intron_variant | MODIFIER | c.396+1769A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18751721 | ||||||
| chrX:18751916
|
G | T | 1 | a0001c0001t0001g0039 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.396+1964G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18751916 | ||||||
| chrX:18751965
|
A | G | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(54): Show | 58 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.396+2013A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18751965 | ||||||
| chrX:18752363
|
T | TTG | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.396+2429_396+2430d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18752363 | |||||
| chrX:18752390
|
C | T | 4 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084others(1): Show | 4 | HG02451.hp1 HG02451.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.396+2438C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752390 | ||||||
| chrX:18752447
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.396+2495T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752447 | ||||||
| chrX:18752534
|
G | A | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.396+2582G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752534 | ||||||
| chrX:18752567
|
G | C | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.396+2615G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752567 | ||||||
| chrX:18752727
|
C | CT | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(61): Show | 65 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(62): Show |
intron_variant | MODIFIER | c.396+2789dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18752727 | |||||
| chrX:18752727
|
C | CTT | 7 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0019others(4): Show | 8 | HG01243.hp1 HG01981.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.396+2788_396+2789d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18752727 | |||||
| chrX:18752789
|
G | A | 1 | a0001c0001t0001g0077 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.396+2837G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752789 | ||||||
| chrX:18752931
|
A | G | 1 | a0001c0001t0001g0078 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.396+2979A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18752931 | ||||||
| chrX:18753230
|
TG | T | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.396+3280delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18753230 | |||||
| chrX:18753265
|
A | T | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.396+3313A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753265 | ||||||
| chrX:18753315
|
T | C | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(58): Show | 63 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.396+3363T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753315 | ||||||
| chrX:18753432
|
T | C | 7 | a0001c0001t0001g0075a0001c0001t0001g0096a0001c0001t0001g0098others(4): Show | 7 | HG01109.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.396+3480T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753432 | ||||||
| chrX:18753471
|
A | G | 1 | a0001c0001t0001g0197 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.396+3519A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753471 | ||||||
| chrX:18753720
|
A | T | 14 | a0001c0001t0001g0010a0001c0001t0001g0197a0001c0001t0001g0198others(11): Show | 14 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.396+3768A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753720 | ||||||
| chrX:18753935
|
A | G | 94 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(91): Show | 96 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.397-3692A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18753935 | ||||||
| chrX:18754052
|
TA | T | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(55): Show | 59 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.397-3560delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18754052 | |||||
| chrX:18754052
|
TAA | T | 3 | a0001c0001t0001g0058a0001c0001t0001g0067a0001c0001t0001g0093 | 3 | HG02895.hp1 NA18957.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.397-3561_397-3560d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18754052 | |||||
| chrX:18754578
|
ATTGT | A | 56 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(53): Show | 57 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(54): Show |
intron_variant | MODIFIER | c.397-3043_397-3040d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18754578 | |||||
| chrX:18754685
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.397-2942C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18754685 | ||||||
| chrX:18755028
|
C | A | 1 | a0001c0001t0001g0027 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.397-2599C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755028 | ||||||
| chrX:18755182
|
T | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01243.hp1 HG02109.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.397-2445T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755182 | ||||||
| chrX:18755189
|
T | TA | 7 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(4): Show | 8 | HG00544.hp2 HG01243.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.397-2428dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18755189 | |||||
| chrX:18755217
|
A | AT | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.397-2403dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18755217 | |||||
| chrX:18755269
|
A | AT | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.397-2354dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18755269 | |||||
| chrX:18755304
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.397-2323C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755304 | ||||||
| chrX:18755332
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.397-2295C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755332 | ||||||
| chrX:18755563
|
TC | T | 4 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0004t0001g0079others(1): Show | 4 | HG02451.hp2 HG02572.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.397-2057delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18755563 | |||||
| chrX:18755572
|
G | C | 17 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(14): Show | 17 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.397-2055G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755572 | ||||||
| chrX:18755573
|
C | T | 32 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(29): Show | 33 | HG01070.hp1 HG01081.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.397-2054C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755573 | ||||||
| chrX:18755969
|
A | G | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(43): Show | 47 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.397-1658A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18755969 | ||||||
| chrX:18756075
|
G | A | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.397-1552G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18756075 | ||||||
| chrX:18756187
|
C | CT | 1 | a0001c0001t0001g0143 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.397-1430dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18756187 | |||||
| chrX:18756241
|
G | A | 11 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(8): Show | 11 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.397-1386G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18756241 | ||||||
| chrX:18756391
|
G | T | 1 | a0001c0001t0001g0183 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.397-1236G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18756391 | ||||||
| chrX:18756431
|
C | T | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(45): Show | 49 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.397-1196C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18756431 | ||||||
| chrX:18756817
|
TC | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.397-806delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18756817 | |||||
| chrX:18757007
|
C | T | 1 | a0001c0001t0001g0204 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.397-620C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18757007 | ||||||
| chrX:18757252
|
C | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.397-375C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18757252 | ||||||
| chrX:18757388
|
C | CTTCT | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.397-238_397-235dup others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chrX | 18757388 | |||||
| chrX:18757448
|
T | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.397-179T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18757448 | ||||||
| chrX:18757561
|
T | C | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(12): Show | 15 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.397-66T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 4/15 | chrX | 18757561 | ||||||
| chrX:18758289
|
GAAAC | G | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0192others(1): Show | 4 | HG01496.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.511+550_511+553del others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18758289 | |||||
| chrX:18758511
|
A | G | 1 | a0001c0001t0001g0040 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.511+770A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18758511 | ||||||
| chrX:18758530
|
AG | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+792delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18758530 | |||||
| chrX:18758560
|
C | G | 11 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(8): Show | 11 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.511+819C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18758560 | ||||||
| chrX:18758689
|
C | CT | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+952dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18758689 | |||||
| chrX:18758780
|
AG | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1041delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18758780 | |||||
| chrX:18758816
|
C | T | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.511+1075C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18758816 | ||||||
| chrX:18758900
|
AG | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1162delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18758900 | |||||
| chrX:18758931
|
C | T | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.511+1190C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18758931 | ||||||
| chrX:18759089
|
T | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1348T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759089 | ||||||
| chrX:18759206
|
GA | G | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1469delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759206 | |||||
| chrX:18759319
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.511+1578G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759319 | ||||||
| chrX:18759353
|
C | T | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(56): Show | 60 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.511+1612C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759353 | ||||||
| chrX:18759383
|
G | T | 11 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(8): Show | 11 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.511+1642G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759383 | ||||||
| chrX:18759415
|
A | AT | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.511+1681dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759415 | |||||
| chrX:18759483
|
A | AG | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1743dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759483 | |||||
| chrX:18759604
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.511+1868delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759604 | |||||
| chrX:18759709
|
G | C | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.512-1821G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759709 | ||||||
| chrX:18759719
|
T | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1811T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759719 | ||||||
| chrX:18759766
|
T | G | 1 | a0001c0001t0001g0121 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.512-1764T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759766 | ||||||
| chrX:18759772
|
AT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1755delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759772 | |||||
| chrX:18759833
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1695delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759833 | |||||
| chrX:18759846
|
G | A | 2 | a0001c0004t0001g0079a0001c0008t0001g0080 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.512-1684G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18759846 | ||||||
| chrX:18759898
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1627delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759898 | |||||
| chrX:18759922
|
G | GA | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1605dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18759922 | |||||
| chrX:18760026
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.512-1504C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18760026 | ||||||
| chrX:18760323
|
TC | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1203delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760323 | |||||
| chrX:18760411
|
T | TG | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.512-1117dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760411 | |||||
| chrX:18760424
|
A | G | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(56): Show | 60 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.512-1106A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18760424 | ||||||
| chrX:18760631
|
A | AG | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.512-896dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760631 | |||||
| chrX:18760760
|
C | T | 1 | a0001c0001t0001g0153 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.512-770C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18760760 | ||||||
| chrX:18760777
|
A | AT | 11 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0013others(8): Show | 11 | HG00741.hp1 HG02886.hp2 HG02922.hp2 others(8): Show |
intron_variant | MODIFIER | c.512-733dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18760777
|
A | ATT | 52 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(49): Show | 54 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.512-734_512-733dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18760777
|
A | ATTT | 5 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0058others(2): Show | 5 | HG01106.hp1 HG03654.hp1 HG03927.hp1 others(2): Show |
intron_variant | MODIFIER | c.512-735_512-733dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18760777
|
A | ATTTT | 2 | a0001c0001t0001g0077a0001c0008t0001g0080 | 2 | HG02572.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.512-736_512-733dup others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18760777
|
A | ATTTTT | 1 | a0001c0001t0001g0078 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.512-737_512-733dup others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18760777
|
AT | A | 2 | a0001c0001t0001g0125a0001c0001t0001g0206 | 2 | HG01943.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.512-733delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | 18760777 | |||||
| chrX:18761020
|
A | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(44): Show | 48 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.512-510A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18761020 | ||||||
| chrX:18761229
|
T | G | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.512-301T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18761229 | ||||||
| chrX:18761262
|
C | G | 11 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(8): Show | 11 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.512-268C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18761262 | ||||||
| chrX:18761282
|
C | A | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.512-248C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 5/15 | chrX | 18761282 | ||||||
| chrX:18761603
|
A | G | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(94): Show | 99 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.558+27A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761603 | ||||||
| chrX:18761652
|
T | C | 1 | a0001c0004t0001g0114 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.558+76T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761652 | ||||||
| chrX:18761729
|
C | CT | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(45): Show | 49 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.558+165dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18761729 | |||||
| chrX:18761758
|
AT | A | 1 | a0001c0001t0001g0038 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.558+187delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18761758 | |||||
| chrX:18761764
|
A | G | 12 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(9): Show | 13 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.558+188A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761764 | ||||||
| chrX:18761797
|
A | G | 1 | a0001c0008t0001g0080 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.558+221A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761797 | ||||||
| chrX:18761815
|
A | G | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(12): Show | 15 | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.558+239A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761815 | ||||||
| chrX:18761821
|
A | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(44): Show | 48 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.558+245A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18761821 | ||||||
| chrX:18762062
|
A | G | 102 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(99): Show | 104 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(101): Show |
intron_variant | MODIFIER | c.558+486A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762062 | ||||||
| chrX:18762142
|
A | G | 1 | a0001c0001t0001g0202 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.558+566A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762142 | ||||||
| chrX:18762282
|
CA | C | 2 | a0001c0001t0001g0009a0003c0009t0001g0004 | 2 | HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.558+707delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762282 | ||||||
| chrX:18762435
|
A | AG | 1 | a0001c0001t0001g0027 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.558+863dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18762435 | |||||
| chrX:18762574
|
CAT | C | 4 | a0001c0004t0001g0079a0001c0004t0001g0088a0001c0004t0001g0114others(1): Show | 4 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.558+999_558+1000de others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762574 | ||||||
| chrX:18762645
|
A | C | 10 | a0001c0001t0001g0009a0001c0001t0001g0074a0001c0001t0001g0085others(7): Show | 10 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.558+1069A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762645 | ||||||
| chrX:18762825
|
G | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(45): Show | 49 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(46): Show |
intron_variant | MODIFIER | c.558+1249G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762825 | ||||||
| chrX:18762868
|
C | T | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.558+1292C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762868 | ||||||
| chrX:18762910
|
C | A | 1 | a0001c0001t0001g0009 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.558+1334C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18762910 | ||||||
| chrX:18763149
|
C | T | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.558+1573C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18763149 | ||||||
| chrX:18763165
|
A | G | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(12): Show | 15 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(12): Show |
intron_variant | MODIFIER | c.558+1589A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18763165 | ||||||
| chrX:18763587
|
A | G | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(76): Show | 80 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.558+2011A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18763587 | ||||||
| chrX:18763632
|
A | G | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01070.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.558+2056A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18763632 | ||||||
| chrX:18763919
|
C | T | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(62): Show | 66 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
intron_variant | MODIFIER | c.558+2343C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18763919 | ||||||
| chrX:18764103
|
G | A | 61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(58): Show | 62 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.558+2527G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764103 | ||||||
| chrX:18764248
|
T | G | 4 | a0001c0001t0001g0209a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02451.hp1 HG02976.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.558+2672T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764248 | ||||||
| chrX:18764625
|
T | C | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(62): Show | 66 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
intron_variant | MODIFIER | c.558+3049T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764625 | ||||||
| chrX:18764662
|
G | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.558+3086G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764662 | ||||||
| chrX:18764672
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.558+3096T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764672 | ||||||
| chrX:18764778
|
C | A | 112 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(109): Show | 114 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.558+3202C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764778 | ||||||
| chrX:18764823
|
A | G | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.558+3247A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764823 | ||||||
| chrX:18764859
|
G | A | 66 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(63): Show | 68 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.558+3283G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18764859 | ||||||
| chrX:18765023
|
G | A | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG01106.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.558+3447G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18765023 | ||||||
| chrX:18765177
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.558+3601G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18765177 | ||||||
| chrX:18765269
|
G | A | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(62): Show | 67 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(64): Show |
intron_variant | MODIFIER | c.558+3693G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18765269 | ||||||
| chrX:18765481
|
G | A | 62 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 64 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.558+3905G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18765481 | ||||||
| chrX:18765605
|
TA | T | 1 | a0001c0001t0001g0058 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.558+4035delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18765605 | |||||
| chrX:18765609
|
AAAG | A | 4 | a0001c0004t0001g0079a0001c0004t0001g0088a0001c0004t0001g0114others(1): Show | 4 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.558+4039_558+4041d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18765609 | |||||
| chrX:18765965
|
C | T | 3 | a0001c0001t0001g0085a0001c0001t0001g0194a0001c0001t0001g0195 | 3 | HG02257.hp1 HG02293.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.558+4389C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18765965 | ||||||
| chrX:18766064
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.558+4488T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18766064 | ||||||
| chrX:18766065
|
C | CA | 3 | a0001c0001t0001g0154a0001c0001t0001g0168a0001c0001t0001g0195 | 3 | HG00642.hp1 HG02257.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.558+4508dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766065 | |||||
| chrX:18766065
|
CA | C | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(5): Show | 8 | HG00621.hp1 HG01928.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.558+4508delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766065 | |||||
| chrX:18766065
|
CAA | C | 56 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(53): Show | 58 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.558+4507_558+4508d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766065 | |||||
| chrX:18766065
|
CAAA | C | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.558+4506_558+4508d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766065 | |||||
| chrX:18766065
|
CAAAAAAA | C | 6 | a0001c0001t0002g0170a0001c0001t0002g0215a0001c0004t0001g0079others(3): Show | 6 | HG00438.hp1 HG01106.hp1 HG01884.hp1 others(3): Show |
intron_variant | MODIFIER | c.558+4502_558+4508d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766065 | |||||
| chrX:18766078
|
A | AAAAAAAG | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.558+4523_558+4529d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766078 | |||||
| chrX:18766078
|
AAAAAAAG | A | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.558+4523_558+4529d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766078 | |||||
| chrX:18766081
|
A | G | 62 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 64 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.558+4505A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18766081 | ||||||
| chrX:18766089
|
AAAG | A | 4 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084others(1): Show | 4 | HG02451.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.558+4516_558+4518d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766089 | |||||
| chrX:18766268
|
C | T | 51 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(48): Show | 52 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.558+4692C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18766268 | ||||||
| chrX:18766776
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.558+5200C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18766776 | ||||||
| chrX:18766786
|
C | T | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.558+5210C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18766786 | ||||||
| chrX:18766893
|
C | CA | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.558+5326dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766893 | |||||
| chrX:18766893
|
CA | C | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.558+5326delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18766893 | |||||
| chrX:18767083
|
AAGAC | A | 5 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0113others(2): Show | 5 | HG01884.hp2 HG02615.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.558+5511_558+5514d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18767083 | |||||
| chrX:18767481
|
G | T | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.558+5905G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18767481 | ||||||
| chrX:18767500
|
G | A | 1 | a0001c0004t0001g0079 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.558+5924G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18767500 | ||||||
| chrX:18767833
|
G | A | 3 | a0001c0001t0001g0196a0001c0001t0001g0199a0001c0001t0001g0220 | 3 | HG02615.hp1 HG02886.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.558+6257G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18767833 | ||||||
| chrX:18767907
|
A | T | 70 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(67): Show | 72 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.558+6331A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18767907 | ||||||
| chrX:18768089
|
A | G | 51 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(48): Show | 52 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.558+6513A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18768089 | ||||||
| chrX:18768488
|
G | T | 7 | a0001c0001t0001g0196a0001c0001t0001g0199a0001c0001t0001g0220others(4): Show | 7 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.558+6912G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18768488 | ||||||
| chrX:18768590
|
C | CA | 1 | a0001c0001t0001g0199 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.558+7015dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18768590 | |||||
| chrX:18768867
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.558+7291G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18768867 | ||||||
| chrX:18768960
|
TGAAGG | T | 1 | a0001c0001t0001g0209 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.558+7389_558+7393d others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18768960 | |||||
| chrX:18769636
|
A | G | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.558+8060A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18769636 | ||||||
| chrX:18769951
|
T | C | 3 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0071 | 3 | NA18941.hp2 NA18999.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.558+8375T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18769951 | ||||||
| chrX:18769989
|
A | G | 2 | a0001c0001t0001g0199a0001c0001t0001g0220 | 2 | HG02615.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.558+8413A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18769989 | ||||||
| chrX:18770072
|
G | A | 4 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084others(1): Show | 4 | HG02451.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.558+8496G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18770072 | ||||||
| chrX:18770828
|
T | G | 2 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | HG03471.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.559-8182T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18770828 | ||||||
| chrX:18770901
|
T | G | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.559-8109T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18770901 | ||||||
| chrX:18771288
|
A | G | 7 | a0001c0001t0001g0196a0001c0001t0001g0199a0001c0001t0001g0220others(4): Show | 7 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.559-7722A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771288 | ||||||
| chrX:18771320
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-7690C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771320 | ||||||
| chrX:18771395
|
T | A | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.559-7615T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771395 | ||||||
| chrX:18771515
|
T | C | 76 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(73): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.559-7495T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771515 | ||||||
| chrX:18771659
|
A | G | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.559-7351A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771659 | ||||||
| chrX:18771704
|
A | G | 1 | a0001c0001t0001g0153 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.559-7306A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771704 | ||||||
| chrX:18771723
|
C | T | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.559-7287C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771723 | ||||||
| chrX:18771912
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-7098C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18771912 | ||||||
| chrX:18772035
|
G | A | 1 | a0006c0010t0001g0213 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.559-6975G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18772035 | ||||||
| chrX:18772225
|
T | C | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(103): Show | 108 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(105): Show |
intron_variant | MODIFIER | c.559-6785T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18772225 | ||||||
| chrX:18772577
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.559-6433G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18772577 | ||||||
| chrX:18772800
|
T | C | 5 | a0001c0001t0001g0015a0002c0002t0001g0037a0002c0002t0001g0048others(2): Show | 5 | HG00140.hp1 HG01074.hp1 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.559-6210T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18772800 | ||||||
| chrX:18773638
|
T | C | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-5372T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18773638 | ||||||
| chrX:18773931
|
C | A | 62 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 64 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.559-5079C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18773931 | ||||||
| chrX:18774018
|
A | G | 64 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(61): Show | 66 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
intron_variant | MODIFIER | c.559-4992A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18774018 | ||||||
| chrX:18774088
|
T | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-4922T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18774088 | ||||||
| chrX:18774723
|
A | G | 76 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(73): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.559-4287A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18774723 | ||||||
| chrX:18774862
|
G | T | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.559-4148G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18774862 | ||||||
| chrX:18774956
|
C | G | 2 | a0001c0001t0001g0199a0001c0001t0001g0220 | 2 | HG02615.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.559-4054C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18774956 | ||||||
| chrX:18775028
|
CTTA | C | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-3976_559-3974d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775028 | |||||
| chrX:18775211
|
C | CT | 40 | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0032others(37): Show | 40 | HG00673.hp1 HG00741.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.559-3775dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775211 | |||||
| chrX:18775211
|
C | CTT | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(58): Show | 63 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.559-3776_559-3775d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775211 | |||||
| chrX:18775211
|
C | CTTT | 18 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(15): Show | 18 | HG01243.hp1 HG01496.hp1 HG01517.hp2 others(15): Show |
intron_variant | MODIFIER | c.559-3777_559-3775d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775211 | |||||
| chrX:18775211
|
C | CTTTT | 1 | a0001c0001t0001g0086 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.559-3778_559-3775d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775211 | |||||
| chrX:18775211
|
CT | C | 6 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0160others(3): Show | 6 | HG02451.hp1 HG02976.hp2 NA18942.hp2 others(3): Show |
intron_variant | MODIFIER | c.559-3775delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775211 | |||||
| chrX:18775373
|
GCCACCAC others(2514): Show |
G | 1 | a0001c0005t0001g0182 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.559-3614_559-1094d others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775373 | |||||
| chrX:18775813
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-3197C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18775813 | ||||||
| chrX:18775969
|
G | GCT | 76 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(73): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.559-3040_559-3039d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18775969 | |||||
| chrX:18775978
|
G | C | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.559-3032G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18775978 | ||||||
| chrX:18776209
|
G | GTGGT | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(58): Show | 63 | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(60): Show |
intron_variant | MODIFIER | c.559-2767_559-2764d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18776209 | |||||
| chrX:18776209
|
G | GTGGTTGG others(1): Show |
14 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0068others(11): Show | 14 | HG00544.hp1 HG01515.hp1 HG01517.hp2 others(11): Show |
intron_variant | MODIFIER | c.559-2771_559-2764d others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18776209 | |||||
| chrX:18776209
|
GTGGT | G | 6 | a0001c0001t0001g0024a0001c0001t0001g0148a0001c0001t0001g0158others(3): Show | 6 | HG01346.hp2 HG02293.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.559-2767_559-2764d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18776209 | |||||
| chrX:18776227
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.559-2783G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18776227 | ||||||
| chrX:18776247
|
T | G | 76 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(73): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.559-2763T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18776247 | ||||||
| chrX:18776401
|
A | AT | 1 | a0001c0001t0001g0179 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.559-2602dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18776401 | |||||
| chrX:18776696
|
G | A | 1 | a0001c0001t0001g0002 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.559-2314G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18776696 | ||||||
| chrX:18776719
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.559-2291A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18776719 | ||||||
| chrX:18776876
|
C | T | 16 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(13): Show | 17 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.559-2134C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18776876 | ||||||
| chrX:18777529
|
T | A | 5 | a0001c0001t0001g0196a0001c0003t0001g0082a0001c0003t0001g0083others(2): Show | 5 | HG02451.hp1 HG02886.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.559-1481T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18777529 | ||||||
| chrX:18777542
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.559-1468C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18777542 | ||||||
| chrX:18777681
|
G | A | 2 | a0001c0001t0001g0015a0002c0002t0001g0066 | 2 | HG00140.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.559-1329G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18777681 | ||||||
| chrX:18777686
|
A | AT | 1 | a0001c0001t0001g0104 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.559-1313dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | 18777686 | |||||
| chrX:18777975
|
A | C | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.559-1035A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18777975 | ||||||
| chrX:18778286
|
C | T | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.559-724C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18778286 | ||||||
| chrX:18778908
|
C | G | 4 | a0001c0004t0001g0079a0001c0004t0001g0088a0001c0004t0001g0114others(1): Show | 4 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.559-102C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18778908 | ||||||
| chrX:18778967
|
A | G | 1 | a0001c0001t0001g0085 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.559-43A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | chrX | 18778967 | ||||||
| chrX:18779215
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.725+39G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18779215 | ||||||
| chrX:18779308
|
A | G | 1 | a0001c0001t0001g0161 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.725+132A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18779308 | ||||||
| chrX:18779495
|
G | A | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.725+319G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18779495 | ||||||
| chrX:18779625
|
C | T | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.725+449C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18779625 | ||||||
| chrX:18780072
|
T | C | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.725+896T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780072 | ||||||
| chrX:18780102
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.725+926G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780102 | ||||||
| chrX:18780139
|
C | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.725+963C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780139 | ||||||
| chrX:18780605
|
G | A | 66 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(63): Show | 68 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.725+1429G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780605 | ||||||
| chrX:18780772
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01070.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.726-1594C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780772 | ||||||
| chrX:18780890
|
T | TA | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.726-1470dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18780890 | |||||
| chrX:18780913
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.726-1453G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18780913 | ||||||
| chrX:18781061
|
C | CA | 6 | a0001c0001t0001g0199a0001c0001t0001g0220a0001c0004t0001g0079others(3): Show | 6 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.726-1296dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18781061 | |||||
| chrX:18781071
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01070.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.726-1295G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781071 | ||||||
| chrX:18781131
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.726-1235C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781131 | ||||||
| chrX:18781149
|
T | TG | 1 | a0001c0001t0001g0202 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.726-1214dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18781149 | |||||
| chrX:18781255
|
A | G | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(80): Show | 85 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(82): Show |
intron_variant | MODIFIER | c.726-1111A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781255 | ||||||
| chrX:18781387
|
T | G | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.726-979T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781387 | ||||||
| chrX:18781431
|
T | C | 2 | a0001c0001t0001g0200a0001c0001t0001g0207 | 2 | NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.726-935T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781431 | ||||||
| chrX:18781767
|
G | A | 77 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 79 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.726-599G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781767 | ||||||
| chrX:18781791
|
G | T | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.726-575G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781791 | ||||||
| chrX:18781806
|
ACTG | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.726-557_726-555del others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18781806 | |||||
| chrX:18781920
|
GTTGTTCA others(9): Show |
G | 5 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 6 | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.726-427_726-412del others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18781920 | |||||
| chrX:18781966
|
T | C | 1 | a0001c0001t0001g0087 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.726-400T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18781966 | ||||||
| chrX:18782157
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.726-209C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18782157 | ||||||
| chrX:18782292
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.726-74G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | chrX | 18782292 | ||||||
| chrX:18782354
|
A | AT | 1 | a0001c0001t0001g0202 | 1 | NA19012.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.726-3dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chrX | 18782354 | |||||
| chrX:18782413
|
C | CT | 3 | a0001c0001t0001g0159a0001c0001t0001g0168a0001c0008t0001g0080 | 3 | HG02572.hp1 HG03486.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.762+27dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18782413 | |||||
| chrX:18782413
|
CT | C | 68 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(65): Show | 69 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.762+27delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18782413 | |||||
| chrX:18782569
|
G | C | 2 | a0001c0001t0001g0040a0001c0001t0001g0045 | 2 | HG01175.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.762+167G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782569 | ||||||
| chrX:18782591
|
T | C | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.762+189T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782591 | ||||||
| chrX:18782884
|
C | G | 219 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 222 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(219): Show |
intron_variant | MODIFIER | c.762+482C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782884 | ||||||
| chrX:18782889
|
G | T | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.762+487G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782889 | ||||||
| chrX:18782910
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.762+508C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782910 | ||||||
| chrX:18782911
|
G | A | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.762+509G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18782911 | ||||||
| chrX:18783111
|
C | CA | 10 | a0001c0001t0001g0070a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.762+727dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18783111 | |||||
| chrX:18783111
|
C | CAA | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.762+726_762+727dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18783111 | |||||
| chrX:18783111
|
CA | C | 69 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(66): Show | 71 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(68): Show |
intron_variant | MODIFIER | c.762+727delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18783111 | |||||
| chrX:18783185
|
C | A | 1 | a0001c0001t0001g0210 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.763-714C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18783185 | ||||||
| chrX:18783370
|
G | A | 5 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.763-529G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | chrX | 18783370 | ||||||
| chrX:18783715
|
C | CA | 67 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(64): Show | 69 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.763-174dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | 18783715 | |||||
| chrX:18784223
|
T | A | 1 | a0001c0001t0001g0119 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.912+175T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18784223 | ||||||
| chrX:18784548
|
C | G | 3 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0189 | 3 | HG02630.hp2 HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.912+500C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18784548 | ||||||
| chrX:18785274
|
G | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.912+1226G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18785274 | ||||||
| chrX:18785311
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.912+1263A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18785311 | ||||||
| chrX:18785321
|
GT | G | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.912+1278delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18785321 | |||||
| chrX:18785569
|
C | T | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0090others(4): Show | 7 | HG02572.hp1 HG02922.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.912+1521C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18785569 | ||||||
| chrX:18785578
|
T | TA | 2 | a0001c0001t0001g0009a0001c0001t0001g0168 | 2 | HG03139.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.912+1542dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18785578 | |||||
| chrX:18785991
|
A | T | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.912+1943A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18785991 | ||||||
| chrX:18786061
|
G | T | 1 | a0001c0001t0001g0039 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.912+2013G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786061 | ||||||
| chrX:18786075
|
G | T | 1 | a0001c0004t0001g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.912+2027G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786075 | ||||||
| chrX:18786282
|
A | G | 1 | a0001c0001t0001g0153 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.912+2234A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786282 | ||||||
| chrX:18786438
|
A | G | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.912+2390A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786438 | ||||||
| chrX:18786655
|
C | T | 3 | a0001c0001t0001g0009a0001c0001t0001g0074a0003c0009t0001g0004 | 3 | HG02630.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.913-2466C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786655 | ||||||
| chrX:18786780
|
C | CA | 9 | a0001c0001t0001g0076a0001c0001t0001g0097a0001c0001t0001g0124others(6): Show | 9 | HG00738.hp1 HG01192.hp1 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.913-2321dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18786780 | |||||
| chrX:18786780
|
C | CAA | 1 | a0001c0001t0001g0187 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.913-2322_913-2321d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18786780 | |||||
| chrX:18786780
|
CA | C | 2 | a0001c0001t0001g0101a0001c0001t0001g0180 | 2 | NA18983.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.913-2321delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18786780 | |||||
| chrX:18786794
|
AAAAAAAG | A | 1 | a0001c0001t0001g0047 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.913-2322_913-2316d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18786794 | |||||
| chrX:18786795
|
AAAAAAG | A | 75 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(72): Show | 77 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(74): Show |
intron_variant | MODIFIER | c.913-2321_913-2316d others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18786795 | |||||
| chrX:18786939
|
C | A | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(78): Show | 83 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.913-2182C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786939 | ||||||
| chrX:18786943
|
T | C | 73 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(70): Show | 75 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.913-2178T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786943 | ||||||
| chrX:18786960
|
G | A | 4 | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0188others(1): Show | 4 | HG02615.hp2 HG02647.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.913-2161G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786960 | ||||||
| chrX:18786968
|
C | A | 5 | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0188others(2): Show | 5 | HG02615.hp2 HG02647.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-2153C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18786968 | ||||||
| chrX:18787232
|
T | C | 1 | a0001c0001t0001g0112 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.913-1889T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787232 | ||||||
| chrX:18787380
|
G | C | 63 | a0001c0001t0001g0010a0001c0001t0001g0023a0001c0001t0001g0025others(60): Show | 63 | HG00280.hp1 HG00609.hp1 HG00738.hp1 others(60): Show |
intron_variant | MODIFIER | c.913-1741G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787380 | ||||||
| chrX:18787483
|
A | C | 1 | a0001c0001t0001g0127 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.913-1638A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787483 | ||||||
| chrX:18787594
|
C | A | 1 | a0006c0010t0001g0213 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.913-1527C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787594 | ||||||
| chrX:18787753
|
T | C | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.913-1368T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787753 | ||||||
| chrX:18787756
|
C | CA | 66 | a0001c0001t0001g0010a0001c0001t0001g0023a0001c0001t0001g0025others(63): Show | 66 | HG00280.hp1 HG00609.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.913-1350dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18787756 | |||||
| chrX:18787756
|
C | CAA | 9 | a0001c0001t0001g0009a0001c0001t0001g0074a0001c0001t0001g0111others(6): Show | 9 | HG02602.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.913-1351_913-1350d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18787756 | |||||
| chrX:18787756
|
CA | C | 1 | a0001c0001t0001g0185 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.913-1350delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18787756 | |||||
| chrX:18787768
|
A | AG | 71 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(68): Show | 72 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.913-1353_913-1352i others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787768 | ||||||
| chrX:18787832
|
C | T | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(69): Show | 73 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.913-1289C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787832 | ||||||
| chrX:18787898
|
A | T | 64 | a0001c0001t0001g0010a0001c0001t0001g0023a0001c0001t0001g0025others(61): Show | 64 | HG00280.hp1 HG00609.hp1 HG00738.hp1 others(61): Show |
intron_variant | MODIFIER | c.913-1223A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18787898 | ||||||
| chrX:18788042
|
T | C | 2 | a0001c0001t0001g0074a0001c0001t0001g0111 | 2 | HG02615.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.913-1079T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788042 | ||||||
| chrX:18788045
|
A | G | 3 | a0001c0001t0001g0163a0001c0001t0001g0169a0003c0009t0001g0004 | 3 | HG03516.hp2 HG03688.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.913-1076A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788045 | ||||||
| chrX:18788052
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.913-1069C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788052 | ||||||
| chrX:18788054
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.913-1067C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788054 | ||||||
| chrX:18788062
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.913-1059A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788062 | ||||||
| chrX:18788066
|
G | C | 52 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(49): Show | 53 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.913-1055G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788066 | ||||||
| chrX:18788066
|
G | T | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | NA18945.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.913-1055G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788066 | ||||||
| chrX:18788098
|
C | T | 1 | a0001c0001t0001g0139 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.913-1023C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788098 | ||||||
| chrX:18788133
|
G | A | 8 | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0095others(5): Show | 8 | HG00741.hp2 HG01081.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.913-988G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788133 | ||||||
| chrX:18788138
|
C | A | 77 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(74): Show | 78 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.913-983C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788138 | ||||||
| chrX:18788150
|
T | A | 3 | a0001c0001t0001g0072a0001c0003t0001g0115a0001c0004t0001g0079 | 3 | HG02451.hp2 HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.913-971T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788150 | ||||||
| chrX:18788179
|
T | C | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.913-942T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788179 | ||||||
| chrX:18788183
|
G | A | 1 | a0001c0001t0001g0089 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.913-938G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788183 | ||||||
| chrX:18788185
|
C | T | 5 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(2): Show | 5 | HG02615.hp1 HG02622.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-936C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788185 | ||||||
| chrX:18788186
|
G | A | 1 | a0001c0001t0001g0089 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.913-935G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788186 | ||||||
| chrX:18788259
|
C | T | 1 | a0001c0001t0001g0039 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.913-862C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788259 | ||||||
| chrX:18788267
|
T | A | 1 | a0001c0001t0001g0111 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.913-854T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788267 | ||||||
| chrX:18788273
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.913-848C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788273 | ||||||
| chrX:18788288
|
G | C | 3 | a0001c0001t0001g0074a0001c0001t0001g0111a0001c0001t0001g0113 | 3 | HG02615.hp2 HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.913-833G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788288 | ||||||
| chrX:18788304
|
C | CA | 68 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(65): Show | 69 | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(66): Show |
intron_variant | MODIFIER | c.913-794dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18788304 | |||||
| chrX:18788304
|
C | CAA | 27 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0036others(24): Show | 27 | HG00438.hp2 HG01515.hp1 HG01517.hp2 others(24): Show |
intron_variant | MODIFIER | c.913-795_913-794dup others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18788304 | |||||
| chrX:18788304
|
C | CAAA | 4 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0117others(1): Show | 4 | HG02293.hp2 HG02630.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.913-796_913-794dup others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18788304 | |||||
| chrX:18788304
|
CA | C | 1 | a0001c0001t0001g0073 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.913-794delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18788304 | |||||
| chrX:18788333
|
CT | C | 81 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(78): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.913-786delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 18788333 | |||||
| chrX:18788381
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.913-740C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788381 | ||||||
| chrX:18788570
|
G | A | 1 | a0001c0001t0001g0220 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.913-551G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 9/15 | chrX | 18788570 | ||||||
| chrX:18789880
|
T | C | 3 | a0001c0001t0001g0074a0001c0001t0001g0111a0001c0001t0001g0113 | 3 | HG02615.hp2 HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1065+607T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18789880 | ||||||
| chrX:18790173
|
G | C | 3 | a0001c0001t0001g0099a0001c0001t0001g0134a0001c0001t0001g0177 | 3 | NA18939.hp2 NA18964.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.1065+900G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790173 | ||||||
| chrX:18790356
|
T | C | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1065+1083T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790356 | ||||||
| chrX:18790359
|
C | G | 4 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0091others(1): Show | 4 | HG01070.hp2 HG01071.hp1 HG02055.hp1 others(1): Show |
intron_variant | MODIFIER | c.1065+1086C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790359 | ||||||
| chrX:18790498
|
C | T | 2 | a0001c0001t0001g0160a0004c0006t0004g0218 | 2 | NA18962.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1065+1225C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790498 | ||||||
| chrX:18790515
|
A | G | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1065+1242A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790515 | ||||||
| chrX:18790698
|
AT | A | 1 | a0001c0001t0001g0058 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1065+1435delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18790698 | |||||
| chrX:18790870
|
C | T | 8 | a0001c0001t0001g0098a0001c0001t0001g0103a0001c0001t0001g0105others(5): Show | 8 | HG01109.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1065+1597C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790870 | ||||||
| chrX:18790886
|
G | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1065+1613G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790886 | ||||||
| chrX:18790950
|
T | C | 36 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0072others(33): Show | 36 | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(33): Show |
intron_variant | MODIFIER | c.1065+1677T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790950 | ||||||
| chrX:18790955
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1065+1682G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18790955 | ||||||
| chrX:18791606
|
C | A | 31 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0072others(28): Show | 31 | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(28): Show |
intron_variant | MODIFIER | c.1065+2333C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18791606 | ||||||
| chrX:18791682
|
CT | C | 1 | a0001c0001t0001g0058 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1065+2414delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18791682 | |||||
| chrX:18791963
|
A | G | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1065+2690A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18791963 | ||||||
| chrX:18792052
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01070.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1065+2779C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792052 | ||||||
| chrX:18792263
|
T | G | 31 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(28): Show | 32 | HG00140.hp1 HG00597.hp1 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.1065+2990T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792263 | ||||||
| chrX:18792530
|
C | T | 26 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0072others(23): Show | 26 | HG00741.hp2 HG01070.hp1 HG01081.hp2 others(23): Show |
intron_variant | MODIFIER | c.1065+3257C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792530 | ||||||
| chrX:18792556
|
T | A | 3 | a0001c0001t0001g0074a0001c0001t0001g0111a0001c0001t0001g0113 | 3 | HG02615.hp2 HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1065+3283T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792556 | ||||||
| chrX:18792557
|
T | A | 3 | a0001c0001t0001g0074a0001c0001t0001g0111a0001c0001t0001g0113 | 3 | HG02615.hp2 HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1065+3284T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792557 | ||||||
| chrX:18792565
|
T | G | 3 | a0001c0001t0001g0074a0001c0001t0001g0111a0001c0001t0001g0113 | 3 | HG02615.hp2 HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1065+3292T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792565 | ||||||
| chrX:18792651
|
C | A | 35 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(32): Show | 36 | HG00140.hp1 HG00597.hp1 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.1065+3378C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792651 | ||||||
| chrX:18792748
|
C | G | 1 | a0001c0001t0001g0090 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1065+3475C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792748 | ||||||
| chrX:18792913
|
A | G | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1065+3640A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18792913 | ||||||
| chrX:18793371
|
C | T | 9 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(6): Show | 9 | HG01070.hp1 HG02451.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1065+4098C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18793371 | ||||||
| chrX:18793679
|
TC | T | 3 | a0001c0001t0001g0104a0001c0001t0001g0200a0001c0001t0001g0207 | 3 | HG00544.hp2 NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.1065+4412delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18793679 | |||||
| chrX:18793684
|
C | A | 1 | a0001c0001t0001g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1065+4411C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18793684 | ||||||
| chrX:18793691
|
T | TC | 1 | a0001c0001t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1065+4424dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18793691 | |||||
| chrX:18793698
|
A | AC | 2 | a0001c0001t0001g0064a0001c0001t0001g0179 | 2 | HG01496.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1065+4431dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18793698 | |||||
| chrX:18794317
|
CA | C | 219 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 222 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(219): Show |
intron_variant | MODIFIER | c.1065+5046delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18794317 | |||||
| chrX:18794581
|
C | A | 1 | a0002c0002t0001g0049 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1065+5308C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18794581 | ||||||
| chrX:18794593
|
G | C | 10 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(7): Show | 10 | HG01884.hp1 HG01884.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1065+5320G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18794593 | ||||||
| chrX:18794654
|
G | A | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1065+5381G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18794654 | ||||||
| chrX:18794859
|
A | G | 2 | a0001c0001t0001g0001a0001c0001t0001g0020 | 3 | HG02109.hp1 HG02486.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.1065+5586A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18794859 | ||||||
| chrX:18794952
|
T | A | 1 | a0001c0001t0001g0131 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1065+5679T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18794952 | ||||||
| chrX:18795170
|
C | T | 4 | a0001c0001t0001g0194a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02293.hp2 HG02451.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.1065+5897C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795170 | ||||||
| chrX:18795171
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0087others(3): Show | 6 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.1065+5898G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795171 | ||||||
| chrX:18795192
|
A | C | 219 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 222 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(219): Show |
intron_variant | MODIFIER | c.1065+5919A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795192 | ||||||
| chrX:18795265
|
G | A | 1 | a0001c0001t0001g0183 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1065+5992G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795265 | ||||||
| chrX:18795382
|
A | G | 2 | a0001c0001t0001g0096a0001c0001t0001g0159 | 2 | HG03486.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1065+6109A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795382 | ||||||
| chrX:18795630
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(3): Show | 6 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.1065+6357G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795630 | ||||||
| chrX:18795885
|
C | A | 85 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(82): Show | 87 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(84): Show |
intron_variant | MODIFIER | c.1065+6612C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795885 | ||||||
| chrX:18795902
|
G | T | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1065+6629G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795902 | ||||||
| chrX:18795925
|
T | A | 4 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02145.hp1 HG02572.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1065+6652T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18795925 | ||||||
| chrX:18796056
|
G | A | 116 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(113): Show | 118 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(115): Show |
intron_variant | MODIFIER | c.1065+6783G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18796056 | ||||||
| chrX:18796240
|
G | C | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1065+6967G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18796240 | ||||||
| chrX:18796325
|
T | C | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1065+7052T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18796325 | ||||||
| chrX:18796792
|
C | T | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1066-7100C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18796792 | ||||||
| chrX:18797165
|
A | G | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-6727A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797165 | ||||||
| chrX:18797203
|
C | T | 5 | a0001c0001t0001g0157a0001c0001t0001g0194a0001c0003t0001g0082others(2): Show | 5 | HG01928.hp1 HG02293.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1066-6689C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797203 | ||||||
| chrX:18797502
|
C | A | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1066-6390C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797502 | ||||||
| chrX:18797518
|
C | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-6374C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797518 | ||||||
| chrX:18797658
|
G | A | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1066-6234G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797658 | ||||||
| chrX:18797694
|
TTC | T | 5 | a0001c0001t0001g0072a0001c0001t0001g0086a0001c0001t0001g0087others(2): Show | 5 | HG01070.hp2 HG01071.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.1066-6196_1066-619 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18797694 | |||||
| chrX:18797811
|
C | T | 22 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0025others(19): Show | 22 | HG00741.hp2 HG01081.hp2 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.1066-6081C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797811 | ||||||
| chrX:18797870
|
A | T | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1066-6022A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797870 | ||||||
| chrX:18797892
|
C | T | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-6000C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797892 | ||||||
| chrX:18797917
|
T | TG | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.1066-5974dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18797917 | |||||
| chrX:18797936
|
GC | G | 220 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(217): Show | 223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.1066-5953delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18797936 | |||||
| chrX:18797974
|
G | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-5918G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18797974 | ||||||
| chrX:18798077
|
A | C | 1 | a0001c0001t0001g0041 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1066-5815A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798077 | ||||||
| chrX:18798078
|
AT | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(3): Show | 6 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066-5802delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18798078 | |||||
| chrX:18798087
|
T | G | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1066-5805T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798087 | ||||||
| chrX:18798133
|
A | G | 21 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(18): Show | 21 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(18): Show |
intron_variant | MODIFIER | c.1066-5759A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798133 | ||||||
| chrX:18798163
|
A | C | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.1066-5729A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798163 | ||||||
| chrX:18798199
|
A | AT | 1 | a0001c0001t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1066-5686dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18798199 | |||||
| chrX:18798279
|
C | T | 112 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(109): Show | 114 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(111): Show |
intron_variant | MODIFIER | c.1066-5613C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798279 | ||||||
| chrX:18798325
|
G | A | 12 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(9): Show | 12 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.1066-5567G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798325 | ||||||
| chrX:18798342
|
A | G | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-5550A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798342 | ||||||
| chrX:18798386
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1066-5506G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798386 | ||||||
| chrX:18798571
|
G | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-5321G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798571 | ||||||
| chrX:18798632
|
C | CT | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1066-5251dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18798632 | |||||
| chrX:18798756
|
T | C | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.1066-5136T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798756 | ||||||
| chrX:18798780
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1066-5112C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798780 | ||||||
| chrX:18798798
|
A | G | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-5094A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798798 | ||||||
| chrX:18798822
|
C | T | 3 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093 | 3 | HG02622.hp2 HG02809.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1066-5070C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18798822 | ||||||
| chrX:18799200
|
TCCAG | T | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.1066-4689_1066-468 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18799200 | |||||
| chrX:18799211
|
C | T | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | NA18945.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.1066-4681C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799211 | ||||||
| chrX:18799232
|
C | CA | 22 | a0001c0001t0001g0019a0001c0001t0001g0072a0001c0001t0001g0073others(19): Show | 22 | HG01070.hp1 HG01071.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.1066-4645dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18799232 | |||||
| chrX:18799232
|
CA | C | 2 | a0001c0001t0001g0058a0001c0001t0001g0159 | 2 | HG03486.hp2 NA18959.hp1 |
intron_variant | MODIFIER | c.1066-4645delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18799232 | |||||
| chrX:18799249
|
G | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0067 | 2 | NA18957.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1066-4643G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799249 | ||||||
| chrX:18799267
|
G | A | 7 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(4): Show | 7 | HG01884.hp1 HG02257.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1066-4625G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799267 | ||||||
| chrX:18799283
|
G | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-4609G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799283 | ||||||
| chrX:18799325
|
G | C | 1 | a0001c0001t0001g0087 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1066-4567G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799325 | ||||||
| chrX:18799388
|
G | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-4504G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799388 | ||||||
| chrX:18799550
|
A | G | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(11): Show | 14 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1066-4342A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18799550 | ||||||
| chrX:18800045
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01070.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1066-3847C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800045 | ||||||
| chrX:18800097
|
T | C | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(94): Show | 99 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(96): Show |
intron_variant | MODIFIER | c.1066-3795T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800097 | ||||||
| chrX:18800116
|
G | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-3776G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800116 | ||||||
| chrX:18800458
|
G | A | 6 | a0001c0001t0001g0051a0001c0001t0001g0054a0001c0001t0001g0055others(3): Show | 6 | NA18939.hp1 NA18999.hp2 NA19007.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066-3434G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800458 | ||||||
| chrX:18800489
|
A | G | 1 | a0001c0001t0001g0106 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1066-3403A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800489 | ||||||
| chrX:18800583
|
T | C | 1 | a0001c0001t0001g0136 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.1066-3309T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800583 | ||||||
| chrX:18800696
|
G | A | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(94): Show | 99 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(96): Show |
intron_variant | MODIFIER | c.1066-3196G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800696 | ||||||
| chrX:18800801
|
G | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-3091G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18800801 | ||||||
| chrX:18801001
|
G | A | 1 | a0001c0001t0001g0102 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1066-2891G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801001 | ||||||
| chrX:18801306
|
C | G | 2 | a0001c0001t0001g0210a0001c0001t0001g0211 | 2 | HG00741.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1066-2586C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801306 | ||||||
| chrX:18801444
|
G | C | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(11): Show | 14 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1066-2448G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801444 | ||||||
| chrX:18801534
|
G | A | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1066-2358G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801534 | ||||||
| chrX:18801566
|
G | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066-2326G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801566 | ||||||
| chrX:18801640
|
CAG | C | 4 | a0001c0001t0001g0194a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02293.hp2 HG02451.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.1066-2245_1066-224 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18801640 | |||||
| chrX:18801733
|
A | AACACCTT | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1066-2158_1066-215 others(11): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18801733 | |||||
| chrX:18801738
|
C | T | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(114): Show | 119 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(116): Show |
intron_variant | MODIFIER | c.1066-2154C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801738 | ||||||
| chrX:18801745
|
G | GT | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1066-2147_1066-214 others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801745 | ||||||
| chrX:18801760
|
A | C | 7 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(4): Show | 7 | HG01884.hp1 HG02257.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1066-2132A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801760 | ||||||
| chrX:18801800
|
C | T | 8 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(5): Show | 8 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.1066-2092C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801800 | ||||||
| chrX:18801923
|
G | T | 4 | a0001c0001t0001g0019a0001c0001t0001g0081a0001c0001t0001g0089others(1): Show | 4 | HG01243.hp1 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1066-1969G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18801923 | ||||||
| chrX:18801983
|
C | CA | 17 | a0001c0001t0001g0046a0001c0001t0001g0072a0001c0001t0001g0073others(14): Show | 17 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.1066-1895dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18801983 | |||||
| chrX:18801983
|
CA | C | 2 | a0001c0001t0001g0012a0001c0001t0001g0176 | 2 | HG00544.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1066-1895delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18801983 | |||||
| chrX:18802379
|
G | T | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1066-1513G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18802379 | ||||||
| chrX:18802589
|
A | G | 22 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(19): Show | 22 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.1066-1303A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18802589 | ||||||
| chrX:18802853
|
C | CA | 1 | a0001c0001t0001g0186 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1066-1029dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18802853 | |||||
| chrX:18802853
|
CA | C | 94 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(91): Show | 96 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(93): Show |
intron_variant | MODIFIER | c.1066-1029delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18802853 | |||||
| chrX:18802936
|
A | G | 115 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(112): Show | 117 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(114): Show |
intron_variant | MODIFIER | c.1066-956A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18802936 | ||||||
| chrX:18802973
|
A | G | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(103): Show | 108 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(105): Show |
intron_variant | MODIFIER | c.1066-919A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18802973 | ||||||
| chrX:18803015
|
A | AC | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1066-876dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18803015 | |||||
| chrX:18803080
|
GC | G | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1066-808delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18803080 | |||||
| chrX:18803083
|
C | A | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-809C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803083 | ||||||
| chrX:18803218
|
T | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1066-674T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803218 | ||||||
| chrX:18803313
|
A | G | 101 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(98): Show | 103 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(100): Show |
intron_variant | MODIFIER | c.1066-579A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803313 | ||||||
| chrX:18803341
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1066-551G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803341 | ||||||
| chrX:18803547
|
C | T | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1066-345C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803547 | ||||||
| chrX:18803570
|
T | G | 1 | a0001c0001t0001g0157 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1066-322T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | chrX | 18803570 | ||||||
| chrX:18803724
|
TG | T | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1066-165delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chrX | 18803724 | |||||
| chrX:18804311
|
C | CT | 1 | a0001c0001t0001g0104 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1251+247dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804311 | |||||
| chrX:18804311
|
CT | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1251+247delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804311 | |||||
| chrX:18804327
|
G | A | 1 | a0001c0001t0001g0199 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1251+250G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18804327 | ||||||
| chrX:18804358
|
G | C | 9 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(6): Show | 9 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1251+281G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18804358 | ||||||
| chrX:18804481
|
AT | A | 1 | a0001c0001t0001g0176 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1251+409delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804481 | |||||
| chrX:18804509
|
GT | G | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1251+434delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804509 | |||||
| chrX:18804559
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(3): Show | 6 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.1251+482G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18804559 | ||||||
| chrX:18804688
|
TG | T | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1251+615delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804688 | |||||
| chrX:18804788
|
A | AC | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1251+712dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804788 | |||||
| chrX:18804978
|
CT | C | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1251+911delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804978 | |||||
| chrX:18804994
|
TTC | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1251+919_1251+920d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18804994 | |||||
| chrX:18804997
|
T | C | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1251+920T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18804997 | ||||||
| chrX:18805026
|
G | T | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1251+949G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805026 | ||||||
| chrX:18805028
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1251+951C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805028 | ||||||
| chrX:18805044
|
T | C | 1 | a0001c0001t0001g0144 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.1251+967T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805044 | ||||||
| chrX:18805050
|
A | G | 109 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(106): Show | 111 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(108): Show |
intron_variant | MODIFIER | c.1251+973A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805050 | ||||||
| chrX:18805055
|
C | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1251+978C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805055 | ||||||
| chrX:18805135
|
C | T | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1251+1058C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805135 | ||||||
| chrX:18805143
|
C | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1251+1066C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805143 | ||||||
| chrX:18805302
|
A | G | 1 | a0001c0001t0001g0197 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1252-1101A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805302 | ||||||
| chrX:18805384
|
AT | A | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1252-1017delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18805384 | |||||
| chrX:18805512
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1252-891C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805512 | ||||||
| chrX:18805591
|
TC | T | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1252-809delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18805591 | |||||
| chrX:18805641
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1252-762G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805641 | ||||||
| chrX:18805666
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1252-737G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805666 | ||||||
| chrX:18805703
|
C | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1252-700C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805703 | ||||||
| chrX:18805712
|
A | C | 1 | a0001c0001t0001g0198 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1252-691A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805712 | ||||||
| chrX:18805790
|
G | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(97): Show | 102 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(99): Show |
intron_variant | MODIFIER | c.1252-613G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805790 | ||||||
| chrX:18805835
|
C | T | 1 | a0002c0002t0001g0048 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1252-568C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805835 | ||||||
| chrX:18805837
|
A | T | 1 | a0002c0002t0001g0048 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1252-566A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805837 | ||||||
| chrX:18805841
|
T | TA | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1252-543dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18805841 | |||||
| chrX:18805841
|
TA | T | 110 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(107): Show | 112 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(109): Show |
intron_variant | MODIFIER | c.1252-543delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18805841 | |||||
| chrX:18805841
|
TAA | T | 4 | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0192others(1): Show | 4 | HG00741.hp1 HG01074.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1252-544_1252-543d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chrX | 18805841 | |||||
| chrX:18805866
|
C | T | 8 | a0001c0001t0001g0075a0001c0001t0001g0118a0001c0001t0001g0194others(5): Show | 8 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1252-537C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805866 | ||||||
| chrX:18805959
|
C | T | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1252-444C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18805959 | ||||||
| chrX:18806085
|
C | T | 1 | a0001c0001t0001g0140 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1252-318C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806085 | ||||||
| chrX:18806112
|
A | G | 1 | a0001c0001t0001g0052 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1252-291A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806112 | ||||||
| chrX:18806156
|
A | G | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1252-247A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806156 | ||||||
| chrX:18806166
|
G | A | 8 | a0001c0001t0001g0075a0001c0001t0001g0118a0001c0001t0001g0194others(5): Show | 8 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1252-237G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806166 | ||||||
| chrX:18806331
|
A | G | 5 | a0001c0001t0001g0076a0001c0001t0001g0107a0001c0001t0001g0162others(2): Show | 5 | HG02040.hp1 HG02129.hp1 NA18940.hp1 others(2): Show |
intron_variant | MODIFIER | c.1252-72A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806331 | ||||||
| chrX:18806372
|
C | T | 6 | a0001c0001t0001g0097a0001c0001t0001g0120a0001c0001t0001g0128others(3): Show | 6 | HG00280.hp1 HG00609.hp1 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.1252-31C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 11/15 | chrX | 18806372 | ||||||
| chrX:18806676
|
T | G | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1394+131T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18806676 | ||||||
| chrX:18806727
|
A | G | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(115): Show | 120 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(117): Show |
intron_variant | MODIFIER | c.1394+182A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18806727 | ||||||
| chrX:18806859
|
A | G | 2 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.1394+314A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18806859 | ||||||
| chrX:18806960
|
C | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(88): Show |
intron_variant | MODIFIER | c.1394+415C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18806960 | ||||||
| chrX:18807002
|
T | G | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1394+457T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807002 | ||||||
| chrX:18807003
|
GGTT | G | 4 | a0001c0001t0001g0194a0001c0003t0001g0082a0001c0003t0001g0083others(1): Show | 4 | HG02293.hp2 HG02451.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394+459_1394+461d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807003 | ||||||
| chrX:18807004
|
G | GT | 3 | a0001c0001t0001g0096a0001c0001t0001g0104a0001c0001t0001g0176 | 3 | HG00544.hp2 NA18961.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1394+469dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807004 | |||||
| chrX:18807004
|
G | T | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1394+459G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807004 | ||||||
| chrX:18807012
|
TTTG | T | 91 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(88): Show | 93 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(90): Show |
intron_variant | MODIFIER | c.1394+470_1394+472d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807012 | |||||
| chrX:18807013
|
TTG | T | 2 | a0001c0001t0001g0143a0001c0001t0001g0155 | 2 | HG01255.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.1394+470_1394+471d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807013 | |||||
| chrX:18807014
|
TG | T | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(11): Show | 14 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1394+470delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807014 | ||||||
| chrX:18807015
|
G | T | 10 | a0001c0001t0001g0078a0001c0001t0001g0085a0001c0001t0001g0188others(7): Show | 10 | HG02293.hp2 HG02451.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.1394+470G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807015 | ||||||
| chrX:18807015
|
GTTTGT | G | 1 | a0001c0001t0001g0076 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1394+474_1394+478d others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807015 | |||||
| chrX:18807019
|
G | GT | 5 | a0001c0001t0001g0031a0001c0001t0001g0039a0001c0001t0001g0142others(2): Show | 5 | HG02135.hp1 NA18942.hp1 NA18942.hp2 others(2): Show |
intron_variant | MODIFIER | c.1394+482dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807019 | |||||
| chrX:18807019
|
GT | G | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1394+482delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807019 | |||||
| chrX:18807029
|
A | C | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1394+484A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807029 | ||||||
| chrX:18807040
|
G | GT | 1 | a0001c0001t0001g0042 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.1394+502dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807040 | |||||
| chrX:18807102
|
TC | T | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1394+560delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807102 | |||||
| chrX:18807138
|
T | C | 1 | a0001c0001t0001g0013 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1394+593T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807138 | ||||||
| chrX:18807662
|
C | T | 1 | a0001c0001t0001g0015 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1394+1117C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807662 | ||||||
| chrX:18807856
|
C | CA | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+1312dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807856 | |||||
| chrX:18807941
|
T | C | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1394+1396T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807941 | ||||||
| chrX:18807964
|
C | T | 2 | a0001c0001t0001g0200a0001c0001t0001g0207 | 2 | NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.1394+1419C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807964 | ||||||
| chrX:18807965
|
G | T | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1394+1420G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18807965 | ||||||
| chrX:18807969
|
A | AT | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(94): Show | 99 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(96): Show |
intron_variant | MODIFIER | c.1394+1440dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807969 | |||||
| chrX:18807969
|
A | ATT | 6 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(3): Show | 6 | HG02074.hp1 HG02145.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.1394+1439_1394+144 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807969 | |||||
| chrX:18807969
|
AT | A | 8 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(5): Show | 8 | HG03209.hp1 NA18939.hp1 NA18939.hp2 others(5): Show |
intron_variant | MODIFIER | c.1394+1440delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807969 | |||||
| chrX:18807969
|
ATT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+1439_1394+144 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18807969 | |||||
| chrX:18808027
|
T | C | 103 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(100): Show | 105 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(102): Show |
intron_variant | MODIFIER | c.1394+1482T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808027 | ||||||
| chrX:18808054
|
C | T | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1394+1509C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808054 | ||||||
| chrX:18808099
|
T | TG | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+1557dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808099 | |||||
| chrX:18808139
|
G | GT | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1394+1601dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808139 | |||||
| chrX:18808186
|
C | T | 9 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(6): Show | 9 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394+1641C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808186 | ||||||
| chrX:18808210
|
C | T | 98 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(95): Show | 100 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(97): Show |
intron_variant | MODIFIER | c.1394+1665C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808210 | ||||||
| chrX:18808261
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1394+1716G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808261 | ||||||
| chrX:18808453
|
TC | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+1910delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808453 | |||||
| chrX:18808552
|
C | CA | 2 | a0001c0001t0001g0051a0001c0001t0003g0147 | 2 | NA18974.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1394+2020dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808552 | |||||
| chrX:18808552
|
CA | C | 8 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(5): Show | 8 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.1394+2020delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808552 | |||||
| chrX:18808552
|
CAA | C | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1394+2019_1394+202 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18808552 | |||||
| chrX:18808857
|
A | C | 1 | a0001c0001t0001g0094 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1394+2312A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808857 | ||||||
| chrX:18808901
|
C | T | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1394+2356C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18808901 | ||||||
| chrX:18809091
|
A | ATATC | 26 | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0027others(23): Show | 26 | HG00642.hp1 HG00738.hp1 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1394+2593_1394+259 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809091
|
A | ATATCTAT others(1): Show |
10 | a0001c0001t0001g0029a0001c0001t0001g0102a0001c0001t0001g0116others(7): Show | 10 | HG00438.hp1 HG00558.hp1 HG01517.hp1 others(7): Show |
intron_variant | MODIFIER | c.1394+2589_1394+259 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809091
|
A | ATATCTAT others(5): Show |
6 | a0001c0001t0001g0031a0001c0001t0001g0099a0001c0001t0001g0134others(3): Show | 6 | HG02738.hp1 NA18939.hp2 NA18942.hp2 others(3): Show |
intron_variant | MODIFIER | c.1394+2585_1394+259 others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809091
|
ATATC | A | 51 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(48): Show | 53 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(50): Show |
intron_variant | MODIFIER | c.1394+2593_1394+259 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809091
|
ATATCTAT others(1): Show |
A | 8 | a0001c0001t0001g0019a0001c0001t0001g0077a0001c0001t0001g0078others(5): Show | 8 | HG01243.hp1 HG01884.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.1394+2589_1394+259 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809091
|
ATATCTAT others(5): Show |
A | 1 | a0001c0001t0001g0161 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1394+2585_1394+259 others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809091 | |||||
| chrX:18809093
|
A | ATCTATCT others(5): Show |
3 | a0001c0001t0001g0073a0001c0001t0001g0132a0001c0001t0001g0194 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.1394+2559_1394+256 others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809093 | |||||
| chrX:18809093
|
A | ATCTATCT others(9): Show |
1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1394+2559_1394+256 others(20): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809093 | |||||
| chrX:18809097
|
A | ATCTATCT others(1): Show |
7 | a0001c0001t0001g0007a0001c0001t0001g0087a0001c0001t0001g0188others(4): Show | 7 | HG02451.hp1 HG02615.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1394+2559_1394+256 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809097 | |||||
| chrX:18809097
|
A | ATCTGTCT others(1): Show |
1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394+2555_1394+255 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809097 | |||||
| chrX:18809101
|
A | ATCTG | 19 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(16): Show | 19 | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.1394+2559_1394+256 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809101 | |||||
| chrX:18809101
|
A | ATCTGTCT others(1): Show |
4 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0196others(1): Show | 4 | HG02572.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394+2559_1394+256 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809101 | |||||
| chrX:18809101
|
A | G | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394+2556A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809101 | ||||||
| chrX:18809105
|
A | G | 32 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0023others(29): Show | 32 | HG00741.hp2 HG01081.hp2 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.1394+2560A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809105 | ||||||
| chrX:18809109
|
A | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(40): Show | 45 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.1394+2564A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809109 | ||||||
| chrX:18809113
|
A | G | 9 | a0001c0001t0001g0019a0001c0001t0001g0047a0001c0001t0001g0077others(6): Show | 9 | HG01243.hp1 HG01256.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394+2568A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809113 | ||||||
| chrX:18809251
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+2707delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809251 | ||||||
| chrX:18809309
|
A | C | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1394+2764A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809309 | ||||||
| chrX:18809336
|
A | G | 4 | a0001c0001t0001g0019a0001c0001t0001g0090a0001c0001t0001g0195others(1): Show | 4 | HG01243.hp1 HG02257.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394+2791A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809336 | ||||||
| chrX:18809381
|
GT | G | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1394+2838delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809381 | |||||
| chrX:18809397
|
AC | A | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1394+2854delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809397 | |||||
| chrX:18809443
|
C | CA | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+2898_1394+289 others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809443 | ||||||
| chrX:18809477
|
AG | A | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1394+2934delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809477 | |||||
| chrX:18809501
|
T | TTCGTGAC others(2): Show |
1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1394+2957_1394+296 others(13): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809501 | |||||
| chrX:18809503
|
C | T | 45 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(42): Show | 45 | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.1394+2958C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809503 | ||||||
| chrX:18809504
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1394+2959G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809504 | ||||||
| chrX:18809632
|
A | G | 15 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0077others(12): Show | 15 | HG01884.hp1 HG02145.hp1 HG02293.hp2 others(12): Show |
intron_variant | MODIFIER | c.1394+3087A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809632 | ||||||
| chrX:18809704
|
C | CA | 14 | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0085others(11): Show | 14 | HG01496.hp2 HG02293.hp1 HG02293.hp2 others(11): Show |
intron_variant | MODIFIER | c.1394+3173dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809704 | |||||
| chrX:18809704
|
C | CAA | 8 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0081others(5): Show | 8 | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1394+3172_1394+317 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809704 | |||||
| chrX:18809704
|
C | CAAA | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1394+3171_1394+317 others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18809704 | |||||
| chrX:18809721
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1394+3176C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809721 | ||||||
| chrX:18809910
|
A | T | 1 | a0001c0001t0001g0015 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1394+3365A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809910 | ||||||
| chrX:18809951
|
G | A | 1 | a0001c0004t0001g0114 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1394+3406G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18809951 | ||||||
| chrX:18810010
|
G | A | 62 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 64 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(61): Show |
intron_variant | MODIFIER | c.1394+3465G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810010 | ||||||
| chrX:18810076
|
C | CTG | 15 | a0001c0001t0001g0035a0001c0001t0001g0077a0001c0001t0001g0078others(12): Show | 15 | HG00438.hp1 HG00738.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1394+3564_1394+356 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18810076 | |||||
| chrX:18810076
|
CTG | C | 9 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0091others(6): Show | 9 | HG01070.hp2 HG01071.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394+3564_1394+356 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18810076 | |||||
| chrX:18810076
|
CTGTG | C | 37 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0023others(34): Show | 37 | HG00597.hp1 HG00741.hp2 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.1394+3562_1394+356 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18810076 | |||||
| chrX:18810076
|
CTGTGTG | C | 63 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(60): Show | 65 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(62): Show |
intron_variant | MODIFIER | c.1394+3560_1394+356 others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18810076 | |||||
| chrX:18810333
|
G | GCA | 8 | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0089others(5): Show | 8 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.1394+3809_1394+381 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18810333 | |||||
| chrX:18810348
|
CA | C | 15 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(12): Show | 15 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1394+3804delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810348 | ||||||
| chrX:18810383
|
G | A | 1 | a0001c0001t0001g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1394+3838G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810383 | ||||||
| chrX:18810445
|
G | T | 66 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(63): Show | 68 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(65): Show |
intron_variant | MODIFIER | c.1394+3900G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810445 | ||||||
| chrX:18810450
|
A | G | 66 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(63): Show | 68 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(65): Show |
intron_variant | MODIFIER | c.1394+3905A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810450 | ||||||
| chrX:18810576
|
G | C | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1394+4031G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810576 | ||||||
| chrX:18810855
|
G | A | 2 | a0001c0001t0001g0144a0001c0001t0001g0187 | 2 | NA18965.hp1 NA18972.hp2 |
intron_variant | MODIFIER | c.1394+4310G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810855 | ||||||
| chrX:18810951
|
AC | A | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1394+4407delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810951 | ||||||
| chrX:18810953
|
T | A | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1394+4408T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18810953 | ||||||
| chrX:18811194
|
A | G | 1 | a0001c0001t0001g0014 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1394+4649A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811194 | ||||||
| chrX:18811201
|
C | T | 1 | a0001c0001t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1394+4656C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811201 | ||||||
| chrX:18811287
|
A | G | 9 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0118others(6): Show | 9 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394+4742A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811287 | ||||||
| chrX:18811449
|
G | A | 112 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(109): Show | 114 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(111): Show |
intron_variant | MODIFIER | c.1394+4904G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811449 | ||||||
| chrX:18811512
|
T | C | 7 | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0089others(4): Show | 7 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.1394+4967T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811512 | ||||||
| chrX:18811518
|
AT | A | 1 | a0001c0001t0001g0214 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1394+4978delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811518 | |||||
| chrX:18811532
|
CTCTT | C | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1394+4989_1394+499 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811532 | |||||
| chrX:18811575
|
A | G | 1 | a0001c0001t0001g0063 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1394+5030A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811575 | ||||||
| chrX:18811587
|
G | GTATA | 2 | a0001c0001t0001g0136a0001c0001t0001g0166 | 2 | NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1394+5068_1394+507 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811587 | |||||
| chrX:18811587
|
GTA | G | 75 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(72): Show | 76 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.1394+5070_1394+507 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811587 | |||||
| chrX:18811587
|
GTATA | G | 1 | a0001c0001t0001g0198 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1394+5068_1394+507 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811587 | |||||
| chrX:18811587
|
GTATATAT others(1): Show |
G | 6 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(3): Show | 6 | HG02559.hp1 HG02622.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1394+5064_1394+507 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811587 | |||||
| chrX:18811599
|
ATATATAT others(12): Show |
A | 2 | a0001c0001t0001g0086a0001c0001t0001g0087 | 2 | HG02055.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1394+5056_1394+507 others(23): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811599 | |||||
| chrX:18811601
|
ATATATAT others(11): Show |
A | 3 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0117 | 3 | HG02970.hp2 HG03130.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1394+5058_1394+507 others(22): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811601 | |||||
| chrX:18811601
|
ATATATAT others(12): Show |
A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0003c0009t0001g0004 | 3 | HG01070.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1394+5058_1394+507 others(23): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811601 | |||||
| chrX:18811601
|
ATATATAT others(13): Show |
A | 59 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(56): Show | 61 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(58): Show |
intron_variant | MODIFIER | c.1394+5058_1394+507 others(24): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811601 | |||||
| chrX:18811601
|
ATATATAT others(14): Show |
A | 1 | a0001c0001t0001g0209 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1394+5058_1394+507 others(25): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811601 | |||||
| chrX:18811603
|
ATATATAT others(12): Show |
A | 5 | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0092others(2): Show | 5 | HG01070.hp2 HG01071.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1394+5060_1394+507 others(23): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811603 | |||||
| chrX:18811605
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1394+5060A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811605 | ||||||
| chrX:18811608
|
TATATATA | T | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394+5064_1394+507 others(11): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811608 | ||||||
| chrX:18811609
|
ATATATAT | A | 4 | a0001c0001t0001g0098a0001c0001t0001g0103a0001c0001t0001g0105others(1): Show | 4 | HG01109.hp1 HG02109.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394+5066_1394+507 others(11): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811609 | |||||
| chrX:18811609
|
ATATATAT others(1): Show |
A | 20 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0025others(17): Show | 20 | HG00741.hp2 HG01192.hp1 HG01261.hp1 others(17): Show |
intron_variant | MODIFIER | c.1394+5066_1394+507 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811609 | |||||
| chrX:18811609
|
ATATATAT others(2): Show |
A | 4 | a0001c0001t0001g0112a0001c0001t0001g0150a0001c0001t0001g0179others(1): Show | 4 | HG01884.hp2 HG03516.hp1 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394+5066_1394+507 others(13): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811609 | |||||
| chrX:18811611
|
ATATATT | A | 3 | a0001c0001t0001g0135a0001c0001t0001g0210a0001c0001t0001g0212 | 3 | HG01081.hp2 NA19043.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.1394+5068_1394+507 others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811611 | |||||
| chrX:18811612
|
TATA | T | 4 | a0001c0001t0001g0035a0001c0001t0001g0055a0001c0001t0001g0124others(1): Show | 4 | HG02056.hp1 NA18522.hp1 NA19085.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394+5068_1394+507 others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811612 | ||||||
| chrX:18811613
|
ATAT | A | 3 | a0001c0001t0001g0031a0001c0001t0001g0096a0001c0001t0001g0219 | 3 | NA18942.hp2 NA18952.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1394+5070_1394+507 others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811613 | |||||
| chrX:18811613
|
ATATT | A | 1 | a0001c0001t0001g0153 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1394+5070_1394+507 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811613 | |||||
| chrX:18811614
|
TA | T | 2 | a0001c0001t0001g0095a0001c0001t0001g0197 | 2 | HG01175.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.1394+5070delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811614 | ||||||
| chrX:18811615
|
A | T | 12 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0051others(9): Show | 12 | HG00438.hp2 HG01106.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394+5070A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811615 | ||||||
| chrX:18811615
|
ATT | A | 5 | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0217others(2): Show | 5 | HG00597.hp2 HG02451.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.1394+5089_1394+509 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811615 | |||||
| chrX:18811615
|
ATTTT | A | 3 | a0001c0001t0001g0078a0001c0001t0001g0093a0001c0004t0001g0088 | 3 | HG01884.hp1 HG02622.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1394+5087_1394+509 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811615 | |||||
| chrX:18811615
|
ATTTTTT | A | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1394+5085_1394+509 others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18811615 | |||||
| chrX:18811619
|
T | A | 3 | a0001c0001t0001g0077a0001c0001t0003g0147a0001c0004t0001g0079 | 3 | HG02451.hp2 HG02809.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.1394+5074T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811619 | ||||||
| chrX:18811621
|
T | A | 1 | a0001c0001t0001g0078 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1394+5076T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811621 | ||||||
| chrX:18811639
|
A | G | 7 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | HG00558.hp1 HG03491.hp1 NA18942.hp2 others(4): Show |
intron_variant | MODIFIER | c.1394+5094A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811639 | ||||||
| chrX:18811694
|
G | C | 9 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0118others(6): Show | 9 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394+5149G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811694 | ||||||
| chrX:18811886
|
C | T | 1 | a0001c0001t0001g0023 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1394+5341C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811886 | ||||||
| chrX:18811937
|
T | C | 5 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(2): Show | 5 | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1394+5392T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18811937 | ||||||
| chrX:18812358
|
G | T | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(115): Show | 120 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(117): Show |
intron_variant | MODIFIER | c.1395-5681G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18812358 | ||||||
| chrX:18812509
|
AT | A | 1 | a0001c0001t0001g0042 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.1395-5527delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18812509 | |||||
| chrX:18812543
|
AT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-5494delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18812543 | |||||
| chrX:18812621
|
AT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-5414delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18812621 | |||||
| chrX:18812631
|
A | G | 1 | a0001c0001t0001g0042 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.1395-5408A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18812631 | ||||||
| chrX:18812796
|
TCTCA | T | 1 | a0001c0001t0001g0040 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1395-5238_1395-523 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18812796 | |||||
| chrX:18812850
|
C | T | 10 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0117others(7): Show | 10 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1395-5189C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18812850 | ||||||
| chrX:18812859
|
C | A | 2 | a0001c0001t0001g0086a0001c0001t0001g0087 | 2 | HG02055.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1395-5180C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18812859 | ||||||
| chrX:18812886
|
C | CG | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-5153_1395-515 others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18812886 | ||||||
| chrX:18813064
|
T | C | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1395-4975T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813064 | ||||||
| chrX:18813100
|
G | A | 5 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(2): Show | 5 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1395-4939G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813100 | ||||||
| chrX:18813128
|
C | T | 1 | a0001c0001t0001g0127 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1395-4911C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813128 | ||||||
| chrX:18813251
|
C | T | 57 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(54): Show | 59 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(56): Show |
intron_variant | MODIFIER | c.1395-4788C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813251 | ||||||
| chrX:18813252
|
G | T | 1 | a0001c0001t0001g0174 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1395-4787G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813252 | ||||||
| chrX:18813304
|
G | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1395-4735G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813304 | ||||||
| chrX:18813378
|
C | CA | 22 | a0001c0001t0001g0013a0001c0001t0001g0023a0001c0001t0001g0032others(19): Show | 22 | HG00741.hp1 HG01070.hp1 HG01070.hp2 others(19): Show |
intron_variant | MODIFIER | c.1395-4641dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813378 | |||||
| chrX:18813378
|
C | CAA | 2 | a0001c0004t0001g0079a0001c0004t0001g0088 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1395-4642_1395-464 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813378 | |||||
| chrX:18813378
|
CA | C | 5 | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0102others(2): Show | 5 | HG03579.hp1 NA18955.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.1395-4641delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813378 | |||||
| chrX:18813399
|
C | A | 1 | a0001c0001t0001g0199 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1395-4640C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813399 | ||||||
| chrX:18813451
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-4586delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813451 | |||||
| chrX:18813525
|
CT | C | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-4510delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813525 | |||||
| chrX:18813542
|
C | T | 5 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(2): Show | 5 | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1395-4497C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813542 | ||||||
| chrX:18813601
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-4434delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813601 | |||||
| chrX:18813649
|
A | G | 10 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0117others(7): Show | 10 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1395-4390A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813649 | ||||||
| chrX:18813695
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1395-4344T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813695 | ||||||
| chrX:18813866
|
AG | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-4171delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18813866 | |||||
| chrX:18813938
|
C | G | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1395-4101C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18813938 | ||||||
| chrX:18814005
|
A | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(115): Show | 120 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(117): Show |
intron_variant | MODIFIER | c.1395-4034A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814005 | ||||||
| chrX:18814026
|
A | G | 16 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1395-4013A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814026 | ||||||
| chrX:18814074
|
TA | T | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-3961delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814074 | |||||
| chrX:18814177
|
G | GT | 2 | a0001c0001t0001g0051a0001c0001t0001g0187 | 2 | NA18972.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.1395-3855dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814177 | |||||
| chrX:18814305
|
C | A | 3 | a0001c0001t0001g0075a0001c0001t0001g0118a0001c0008t0001g0080 | 3 | HG02145.hp1 HG02572.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1395-3734C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814305 | ||||||
| chrX:18814362
|
TG | T | 1 | a0001c0001t0001g0042 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.1395-3674delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814362 | |||||
| chrX:18814391
|
AT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-3643delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814391 | |||||
| chrX:18814411
|
T | C | 1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1395-3628T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814411 | ||||||
| chrX:18814494
|
GC | G | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-3543delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814494 | |||||
| chrX:18814587
|
G | T | 219 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 222 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(219): Show |
intron_variant | MODIFIER | c.1395-3452G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814587 | ||||||
| chrX:18814604
|
C | T | 10 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0117others(7): Show | 10 | HG02145.hp1 HG02293.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1395-3435C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814604 | ||||||
| chrX:18814651
|
GT | G | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-3385delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18814651 | |||||
| chrX:18814996
|
C | T | 1 | a0001c0001t0002g0170 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1395-3043C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18814996 | ||||||
| chrX:18815014
|
AT | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-3020delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18815014 | |||||
| chrX:18815060
|
G | A | 94 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(91): Show | 96 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(93): Show |
intron_variant | MODIFIER | c.1395-2979G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815060 | ||||||
| chrX:18815269
|
A | T | 119 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(116): Show | 121 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(118): Show |
intron_variant | MODIFIER | c.1395-2770A>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815269 | ||||||
| chrX:18815315
|
A | ATCTT | 8 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(5): Show | 8 | HG01106.hp1 HG01884.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1395-2722_1395-271 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18815315 | |||||
| chrX:18815716
|
T | G | 1 | a0001c0001t0005g0146 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1395-2323T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815716 | ||||||
| chrX:18815799
|
AT | A | 42 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(39): Show | 42 | HG00741.hp2 HG01081.hp2 HG01106.hp1 others(39): Show |
intron_variant | MODIFIER | c.1395-2238delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18815799 | |||||
| chrX:18815903
|
ATT | A | 6 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0093others(3): Show | 6 | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.1395-2123_1395-212 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18815903 | |||||
| chrX:18815907
|
T | A | 116 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(113): Show | 118 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(115): Show |
intron_variant | MODIFIER | c.1395-2132T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815907 | ||||||
| chrX:18815911
|
T | A | 1 | a0001c0001t0001g0015 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1395-2128T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815911 | ||||||
| chrX:18815922
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1395-2117T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815922 | ||||||
| chrX:18815982
|
C | A | 2 | a0001c0001t0001g0040a0001c0001t0001g0045 | 2 | HG01175.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.1395-2057C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18815982 | ||||||
| chrX:18816050
|
G | A | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1395-1989G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816050 | ||||||
| chrX:18816074
|
A | G | 16 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1395-1965A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816074 | ||||||
| chrX:18816100
|
C | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(3): Show | 6 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.1395-1939C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816100 | ||||||
| chrX:18816115
|
T | C | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1395-1924T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816115 | ||||||
| chrX:18816229
|
TCTC | T | 1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1395-1807_1395-180 others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18816229 | |||||
| chrX:18816323
|
T | A | 1 | a0001c0001t0001g0183 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1395-1716T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816323 | ||||||
| chrX:18816369
|
CAATA | C | 5 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(2): Show | 5 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1395-1666_1395-166 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18816369 | |||||
| chrX:18816455
|
C | T | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1395-1584C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816455 | ||||||
| chrX:18816597
|
C | A | 1 | a0001c0001t0001g0162 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1395-1442C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816597 | ||||||
| chrX:18816631
|
T | C | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0008t0001g0080 | 3 | HG02572.hp1 HG03471.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1395-1408T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816631 | ||||||
| chrX:18816639
|
T | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(88): Show |
intron_variant | MODIFIER | c.1395-1400T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816639 | ||||||
| chrX:18816721
|
T | G | 2 | a0001c0001t0001g0143a0001c0001t0001g0155 | 2 | HG01255.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.1395-1318T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18816721 | ||||||
| chrX:18817067
|
C | CGT | 5 | a0001c0001t0001g0072a0001c0001t0001g0077a0001c0001t0001g0078others(2): Show | 5 | HG02055.hp1 HG02622.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.1395-972_1395-971i others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817067
|
C | CGTGT | 2 | a0001c0001t0001g0073a0001c0001t0001g0093 | 2 | HG01070.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1395-972_1395-971i others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817067
|
C | CGTGTGTG others(1): Show |
2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1395-972_1395-971i others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817067
|
CAT | C | 6 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0196others(3): Show | 6 | HG01496.hp2 HG02293.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.1395-971_1395-970d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817067
|
CATGT | C | 1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1395-971_1395-968d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817067
|
CATGTGTG others(19): Show |
C | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1395-971_1395-946d others(28): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817067 | ||||||
| chrX:18817068
|
A | ATATG | 4 | a0001c0001t0001g0005a0001c0001t0001g0062a0001c0001t0001g0113others(1): Show | 4 | HG00597.hp1 HG02647.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1395-970_1395-969i others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATATGTG | 3 | a0001c0001t0001g0040a0001c0001t0001g0089a0001c0001t0001g0111 | 3 | HG01175.hp2 HG02615.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.1395-970_1395-969i others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATATGTGT others(1): Show |
36 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(33): Show | 38 | HG00140.hp1 HG00558.hp2 HG00741.hp1 others(35): Show |
intron_variant | MODIFIER | c.1395-970_1395-969i others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATATGTGT others(3): Show |
6 | a0001c0001t0001g0012a0001c0001t0001g0052a0001c0001t0001g0107others(3): Show | 6 | HG00544.hp1 HG01981.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.1395-970_1395-969i others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATATGTGT others(5): Show |
2 | a0001c0001t0001g0019a0001c0001t0001g0090 | 2 | HG01243.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1395-970_1395-969i others(14): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATATGTGT others(7): Show |
2 | a0002c0002t0001g0048a0002c0002t0001g0049 | 2 | HG01074.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.1395-970_1395-969i others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATG | 4 | a0001c0001t0001g0051a0001c0001t0001g0065a0001c0001t0001g0136others(1): Show | 4 | HG02071.hp1 NA18974.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.1395-935_1395-934d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | ATGTGTGT others(1): Show |
1 | a0001c0003t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1395-941_1395-934d others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
A | G | 19 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(16): Show | 19 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.1395-971A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817068 | ||||||
| chrX:18817068
|
ATGTGTGT others(1): Show |
A | 38 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(35): Show | 38 | HG00741.hp2 HG01081.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.1395-941_1395-934d others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817068
|
ATGTGTGT others(3): Show |
A | 2 | a0001c0001t0001g0029a0001c0005t0001g0182 | 2 | HG00558.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1395-943_1395-934d others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817068 | |||||
| chrX:18817078
|
G | A | 38 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(35): Show | 38 | HG00741.hp2 HG01081.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.1395-961G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817078 | ||||||
| chrX:18817080
|
G | A | 1 | a0001c0005t0001g0182 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1395-959G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817080 | ||||||
| chrX:18817127
|
A | G | 4 | a0001c0001t0001g0019a0001c0001t0001g0090a0001c0001t0001g0195others(1): Show | 4 | HG01243.hp1 HG02257.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1395-912A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817127 | ||||||
| chrX:18817293
|
G | C | 1 | a0001c0001t0001g0140 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1395-746G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817293 | ||||||
| chrX:18817350
|
T | A | 1 | a0001c0001t0001g0051 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1395-689T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817350 | ||||||
| chrX:18817365
|
A | G | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(88): Show |
intron_variant | MODIFIER | c.1395-674A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817365 | ||||||
| chrX:18817526
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(88): Show |
intron_variant | MODIFIER | c.1395-513G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817526 | ||||||
| chrX:18817674
|
G | GT | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(86): Show | 91 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(88): Show |
intron_variant | MODIFIER | c.1395-364dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | 18817674 | |||||
| chrX:18817697
|
C | T | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(110): Show | 115 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(112): Show |
intron_variant | MODIFIER | c.1395-342C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817697 | ||||||
| chrX:18817886
|
T | C | 1 | a0001c0001t0001g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1395-153T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | chrX | 18817886 | ||||||
| chrX:18818370
|
C | CT | 4 | a0001c0001t0001g0145a0001c0001t0001g0161a0001c0001t0001g0163others(1): Show | 4 | HG00609.hp1 HG02135.hp1 NA18967.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+243dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18818370 | |||||
| chrX:18818370
|
CT | C | 107 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(104): Show | 109 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(106): Show |
intron_variant | MODIFIER | c.1501+243delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18818370 | |||||
| chrX:18818370
|
CTT | C | 4 | a0001c0001t0001g0042a0001c0001t0001g0122a0001c0001t0001g0211others(1): Show | 4 | HG00741.hp2 HG01258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+242_1501+243d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18818370 | |||||
| chrX:18818527
|
C | T | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1501+382C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18818527 | ||||||
| chrX:18818660
|
G | A | 1 | a0001c0001t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1501+515G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18818660 | ||||||
| chrX:18818699
|
G | A | 4 | a0001c0001t0001g0019a0001c0001t0001g0090a0001c0001t0001g0195others(1): Show | 4 | HG01243.hp1 HG02257.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+554G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18818699 | ||||||
| chrX:18818717
|
A | G | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(89): Show |
intron_variant | MODIFIER | c.1501+572A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18818717 | ||||||
| chrX:18818880
|
TG | T | 1 | a0001c0001t0001g0042 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.1501+739delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18818880 | |||||
| chrX:18818990
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1501+845C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18818990 | ||||||
| chrX:18819010
|
T | G | 1 | a0001c0001t0001g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1501+865T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18819010 | ||||||
| chrX:18819192
|
A | G | 10 | a0001c0001t0001g0019a0001c0001t0001g0077a0001c0001t0001g0078others(7): Show | 10 | HG01243.hp1 HG01884.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1501+1047A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18819192 | ||||||
| chrX:18819454
|
G | A | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1501+1309G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18819454 | ||||||
| chrX:18819528
|
C | CA | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0086others(11): Show | 14 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1501+1392dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18819528 | |||||
| chrX:18819560
|
G | A | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1501+1415G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18819560 | ||||||
| chrX:18819693
|
TCAAA | T | 5 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(2): Show | 5 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1501+1557_1501+156 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18819693 | |||||
| chrX:18820006
|
G | A | 1 | a0001c0001t0001g0136 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.1501+1861G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820006 | ||||||
| chrX:18820388
|
CT | C | 95 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(92): Show | 97 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(94): Show |
intron_variant | MODIFIER | c.1501+2258delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18820388 | |||||
| chrX:18820388
|
CTT | C | 1 | a0001c0001t0006g0006 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1501+2257_1501+225 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18820388 | |||||
| chrX:18820394
|
T | A | 2 | a0001c0001t0001g0086a0001c0001t0001g0087 | 2 | HG02055.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1501+2249T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820394 | ||||||
| chrX:18820408
|
TG | T | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+2265delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18820408 | |||||
| chrX:18820598
|
A | G | 5 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0003t0001g0082others(2): Show | 5 | HG02293.hp2 HG02451.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1501+2453A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820598 | ||||||
| chrX:18820662
|
A | G | 5 | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0118others(2): Show | 5 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1501+2517A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820662 | ||||||
| chrX:18820674
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1501+2529C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820674 | ||||||
| chrX:18820691
|
CT | C | 5 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(2): Show | 5 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.1501+2552delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18820691 | |||||
| chrX:18820932
|
C | G | 51 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(48): Show | 51 | HG00741.hp2 HG01081.hp2 HG01106.hp1 others(48): Show |
intron_variant | MODIFIER | c.1501+2787C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18820932 | ||||||
| chrX:18821065
|
T | C | 1 | a0001c0001t0001g0197 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1502-2858T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821065 | ||||||
| chrX:18821095
|
C | T | 2 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1502-2828C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821095 | ||||||
| chrX:18821137
|
G | A | 1 | a0001c0001t0001g0209 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1502-2786G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821137 | ||||||
| chrX:18821177
|
T | C | 6 | a0001c0001t0001g0035a0001c0001t0001g0198a0001c0001t0001g0201others(3): Show | 6 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.1502-2746T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821177 | ||||||
| chrX:18821178
|
G | A | 6 | a0001c0001t0001g0035a0001c0001t0001g0198a0001c0001t0001g0201others(3): Show | 6 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.1502-2745G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821178 | ||||||
| chrX:18821180
|
G | A | 6 | a0001c0001t0001g0035a0001c0001t0001g0198a0001c0001t0001g0201others(3): Show | 6 | HG01081.hp1 HG01099.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.1502-2743G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821180 | ||||||
| chrX:18821222
|
C | CA | 8 | a0001c0001t0001g0063a0001c0001t0001g0112a0001c0001t0001g0121others(5): Show | 8 | HG01884.hp2 HG03927.hp1 NA18956.hp1 others(5): Show |
intron_variant | MODIFIER | c.1502-2683dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821222 | |||||
| chrX:18821222
|
CA | C | 56 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(53): Show | 58 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(55): Show |
intron_variant | MODIFIER | c.1502-2683delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821222 | |||||
| chrX:18821390
|
TA | T | 1 | a0001c0001t0001g0119 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1502-2522delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821390 | |||||
| chrX:18821566
|
G | A | 2 | a0001c0004t0001g0114a0001c0005t0001g0182 | 2 | HG01106.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1502-2357G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821566 | ||||||
| chrX:18821668
|
C | T | 105 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(102): Show | 107 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(104): Show |
intron_variant | MODIFIER | c.1502-2255C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821668 | ||||||
| chrX:18821758
|
C | CGA | 13 | a0001c0001t0001g0024a0001c0001t0001g0029a0001c0001t0001g0030others(10): Show | 13 | HG00558.hp1 HG01346.hp2 HG02015.hp1 others(10): Show |
intron_variant | MODIFIER | c.1502-2120_1502-211 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
C | CGAGA | 3 | a0001c0001t0001g0096a0001c0001t0001g0134a0001c0001t0001g0172 | 3 | HG02083.hp1 NA18939.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1502-2122_1502-211 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
C | CGAGAGA | 6 | a0001c0001t0001g0036a0001c0001t0001g0099a0001c0001t0001g0177others(3): Show | 6 | HG01081.hp1 NA18522.hp1 NA18964.hp1 others(3): Show |
intron_variant | MODIFIER | c.1502-2124_1502-211 others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
C | CGAGAGAG others(1): Show |
2 | a0001c0001t0001g0201a0001c0001t0001g0204 | 2 | HG01099.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.1502-2126_1502-211 others(12): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
C | CGAGAGAG others(5): Show |
1 | a0001c0001t0001g0216 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1502-2130_1502-211 others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
C | CGAGAGAG others(15): Show |
1 | a0001c0001t0001g0094 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1502-2140_1502-211 others(26): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGA | C | 7 | a0001c0001t0001g0026a0001c0001t0001g0116a0001c0001t0001g0142others(4): Show | 7 | HG01978.hp2 HG02886.hp1 HG03516.hp2 others(4): Show |
intron_variant | MODIFIER | c.1502-2120_1502-211 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGA | C | 6 | a0001c0001t0001g0039a0001c0001t0001g0085a0001c0001t0001g0124others(3): Show | 6 | HG00673.hp1 HG01496.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1502-2122_1502-211 others(8): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGAGA | C | 29 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(26): Show | 30 | HG00438.hp2 HG00621.hp1 HG01928.hp1 others(27): Show |
intron_variant | MODIFIER | c.1502-2124_1502-211 others(10): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGAGAG others(3): Show |
C | 10 | a0001c0001t0001g0019a0001c0001t0001g0075a0001c0001t0001g0090others(7): Show | 10 | HG01243.hp1 HG02145.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1502-2128_1502-211 others(14): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGAGAG others(5): Show |
C | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.1502-2130_1502-211 others(16): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGAGAG others(7): Show |
C | 20 | a0001c0001t0001g0073a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG00280.hp1 HG00609.hp1 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.1502-2132_1502-211 others(18): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821758
|
CGAGAGAG others(15): Show |
C | 1 | a0001c0001t0001g0014 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1502-2140_1502-211 others(26): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821758 | |||||
| chrX:18821799
|
G | A | 54 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(51): Show | 56 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(53): Show |
intron_variant | MODIFIER | c.1502-2124G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821799 | ||||||
| chrX:18821801
|
G | A | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 101 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(98): Show |
intron_variant | MODIFIER | c.1502-2122G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821801 | ||||||
| chrX:18821801
|
GAGA | G | 2 | a0001c0001t0001g0139a0001c0001t0001g0188 | 2 | HG02965.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1502-2120_1502-211 others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821801 | |||||
| chrX:18821803
|
G | A | 108 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(105): Show | 110 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(107): Show |
intron_variant | MODIFIER | c.1502-2120G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821803 | ||||||
| chrX:18821803
|
GA | G | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1502-2116delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18821803 | |||||
| chrX:18821804
|
A | AG | 5 | a0001c0001t0001g0009a0001c0001t0001g0035a0001c0001t0001g0104others(2): Show | 5 | HG00544.hp2 HG02056.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.1502-2119_1502-211 others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821804 | ||||||
| chrX:18821804
|
A | AGAGAGAG others(20): Show |
1 | a0001c0001t0001g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1502-2119_1502-211 others(31): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821804 | ||||||
| chrX:18821805
|
A | G | 1 | a0001c0001t0001g0057 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1502-2118A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821805 | ||||||
| chrX:18821806
|
A | G | 1 | a0001c0001t0001g0031 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1502-2117A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821806 | ||||||
| chrX:18821807
|
A | G | 1 | a0001c0001t0001g0057 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1502-2116A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821807 | ||||||
| chrX:18821888
|
G | C | 19 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(16): Show | 19 | HG01070.hp1 HG01884.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1502-2035G>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18821888 | ||||||
| chrX:18822082
|
G | A | 5 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(2): Show | 5 | HG02559.hp1 HG02622.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1502-1841G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18822082 | ||||||
| chrX:18822353
|
C | CA | 10 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0086others(7): Show | 10 | HG00621.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
intron_variant | MODIFIER | c.1502-1556dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18822353 | |||||
| chrX:18822353
|
CA | C | 3 | a0001c0001t0001g0011a0001c0001t0001g0122a0001c0001t0001g0183 | 3 | HG00558.hp2 HG01258.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1502-1556delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18822353 | |||||
| chrX:18822353
|
CAA | C | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0132others(4): Show | 7 | HG02451.hp1 HG02970.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1502-1557_1502-155 others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18822353 | |||||
| chrX:18822513
|
C | CT | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1502-1397dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18822513 | |||||
| chrX:18822593
|
C | G | 21 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(18): Show | 21 | HG01070.hp1 HG01243.hp1 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.1502-1330C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18822593 | ||||||
| chrX:18822733
|
A | G | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1502-1190A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18822733 | ||||||
| chrX:18822979
|
A | G | 4 | a0001c0001t0001g0085a0001c0001t0001g0188a0001c0001t0001g0220others(1): Show | 4 | HG02615.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1502-944A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18822979 | ||||||
| chrX:18823153
|
C | T | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(80): Show | 85 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(82): Show |
intron_variant | MODIFIER | c.1502-770C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823153 | ||||||
| chrX:18823347
|
G | A | 7 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0132others(4): Show | 7 | HG02451.hp1 HG02970.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1502-576G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823347 | ||||||
| chrX:18823524
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0117others(3): Show | 6 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1502-399G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823524 | ||||||
| chrX:18823600
|
C | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1502-323C>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823600 | ||||||
| chrX:18823627
|
C | CAA | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1502-286_1502-285d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18823627 | |||||
| chrX:18823635
|
AAAAT | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(8): Show | 11 | HG01070.hp1 HG01884.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1502-273_1502-270d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18823635 | |||||
| chrX:18823639
|
T | A | 4 | a0001c0001t0001g0013a0001c0001t0001g0091a0001c0001t0001g0092others(1): Show | 4 | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1502-284T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823639 | ||||||
| chrX:18823688
|
G | GA | 1 | a0001c0001t0001g0046 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1502-225dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | 18823688 | |||||
| chrX:18823889
|
C | T | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1502-34C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | 18823889 | ||||||
| chrX:18824121
|
A | AG | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1665+38dupG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18824121 | |||||
| chrX:18824296
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1665+210C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824296 | ||||||
| chrX:18824296
|
CG | C | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1665+213delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18824296 | |||||
| chrX:18824306
|
C | G | 119 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(116): Show | 121 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(118): Show |
intron_variant | MODIFIER | c.1665+220C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824306 | ||||||
| chrX:18824373
|
G | GT | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1665+287_1665+288i others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824373 | ||||||
| chrX:18824666
|
T | C | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(80): Show | 85 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(82): Show |
intron_variant | MODIFIER | c.1665+580T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824666 | ||||||
| chrX:18824720
|
G | A | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1665+634G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824720 | ||||||
| chrX:18824733
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0117others(3): Show | 6 | HG02145.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1665+647G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824733 | ||||||
| chrX:18824774
|
C | G | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1665+688C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824774 | ||||||
| chrX:18824799
|
G | A | 1 | a0001c0001t0001g0211 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1665+713G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824799 | ||||||
| chrX:18824808
|
C | T | 1 | a0003c0009t0001g0004 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1665+722C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824808 | ||||||
| chrX:18824822
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1665+736C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824822 | ||||||
| chrX:18824877
|
TG | T | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1665+793delG | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18824877 | |||||
| chrX:18824920
|
TC | T | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-828delC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18824920 | |||||
| chrX:18824985
|
A | G | 1 | a0001c0001t0001g0074 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1666-766A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18824985 | ||||||
| chrX:18825026
|
G | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(8): Show | 11 | HG01070.hp1 HG01884.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1666-725G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825026 | ||||||
| chrX:18825061
|
T | TC | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-689dupC | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825061 | |||||
| chrX:18825083
|
GA | G | 120 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(117): Show | 122 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(119): Show |
intron_variant | MODIFIER | c.1666-665delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825083 | |||||
| chrX:18825146
|
C | CA | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-603dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825146 | |||||
| chrX:18825234
|
C | T | 8 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0117others(5): Show | 8 | HG01106.hp1 HG02145.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1666-517C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825234 | ||||||
| chrX:18825306
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1666-445G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825306 | ||||||
| chrX:18825327
|
C | T | 1 | a0001c0001t0001g0197 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1666-424C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825327 | ||||||
| chrX:18825369
|
A | AT | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-379dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825369 | |||||
| chrX:18825424
|
G | A | 4 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084others(1): Show | 4 | HG02451.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666-327G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825424 | ||||||
| chrX:18825431
|
A | G | 2 | a0001c0001t0001g0192a0001c0001t0001g0193 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1666-320A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825431 | ||||||
| chrX:18825725
|
T | TA | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-24dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825725 | |||||
| chrX:18825732
|
TAGA | T | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-17_1666-15del others(3): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | 18825732 | |||||
| chrX:18825738
|
A | C | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-13A>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825738 | ||||||
| chrX:18825739
|
T | A | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-12T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825739 | ||||||
| chrX:18825742
|
T | A | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1666-9T>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825742 | ||||||
| chrX:18825743
|
T | G | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | splice_region_variant&intron_variant | LOW | c.1666-8T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825743 | ||||||
| chrX:18825744
|
A | ACGCG | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | splice_region_variant&intron_variant | LOW | c.1666-7_1666-6insCG others(2): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825744 | ||||||
| chrX:18825746
|
T | G | 1 | a0004c0006t0004g0218 | 1 | NA18967.hp1 | splice_region_variant&intron_variant | LOW | c.1666-5T>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 14/15 | chrX | 18825746 | ||||||
| chrX:18825871
|
G | A | 1 | a0001c0001t0001g0196 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1750+36G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18825871 | ||||||
| chrX:18825894
|
G | A | 98 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(95): Show | 100 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(97): Show |
intron_variant | MODIFIER | c.1750+59G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18825894 | ||||||
| chrX:18826053
|
C | T | 1 | a0001c0001t0001g0096 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1750+218C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826053 | ||||||
| chrX:18826061
|
C | T | 2 | a0001c0001t0001g0081a0001c0001t0001g0089 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1750+226C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826061 | ||||||
| chrX:18826250
|
C | T | 1 | a0001c0001t0001g0077 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1750+415C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826250 | ||||||
| chrX:18826417
|
C | CT | 33 | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0041others(30): Show | 33 | HG00438.hp2 HG00642.hp1 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.1750+610dupT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
C | CTT | 10 | a0001c0001t0001g0019a0001c0001t0001g0085a0001c0001t0001g0090others(7): Show | 10 | HG01243.hp1 HG02257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.1750+609_1750+610d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
C | CTTT | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(5): Show | 8 | HG01070.hp1 HG01884.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1750+608_1750+610d others(5): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
C | CTTTT | 2 | a0001c0001t0001g0007a0001c0001t0001g0078 | 2 | HG02622.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1750+607_1750+610d others(6): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
C | CTTTTT | 2 | a0001c0001t0001g0077a0001c0001t0001g0093 | 2 | HG02809.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1750+606_1750+610d others(7): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
CT | C | 21 | a0001c0001t0001g0011a0001c0001t0001g0028a0001c0001t0001g0040others(18): Show | 21 | HG00558.hp2 HG00741.hp2 HG01071.hp1 others(18): Show |
intron_variant | MODIFIER | c.1750+610delT | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
CTT | C | 73 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(70): Show | 75 | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(72): Show |
intron_variant | MODIFIER | c.1750+609_1750+610d others(4): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826417
|
CTTTTTTT | C | 1 | a0001c0001t0001g0132 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1750+604_1750+610d others(9): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826417 | |||||
| chrX:18826522
|
G | A | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(80): Show | 85 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(82): Show |
intron_variant | MODIFIER | c.1750+687G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826522 | ||||||
| chrX:18826562
|
G | T | 21 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(18): Show | 21 | HG01070.hp1 HG01243.hp1 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.1751-714G>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826562 | ||||||
| chrX:18826717
|
C | T | 2 | a0001c0001t0001g0041a0005c0007t0001g0129 | 2 | HG02015.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.1751-559C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826717 | ||||||
| chrX:18826718
|
G | A | 6 | a0001c0001t0001g0013a0001c0001t0001g0110a0001c0001t0001g0131others(3): Show | 6 | HG00140.hp1 HG00741.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751-558G>A | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826718 | ||||||
| chrX:18826778
|
C | T | 1 | a0001c0001t0001g0063 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1751-498C>T | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826778 | ||||||
| chrX:18826779
|
A | G | 2 | a0001c0001t0001g0028a0001c0001t0001g0109 | 2 | NA18990.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1751-497A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826779 | ||||||
| chrX:18826816
|
G | GA | 5 | a0001c0001t0001g0090a0001c0001t0001g0177a0001c0001t0001g0178others(2): Show | 5 | HG02738.hp1 HG02922.hp1 NA18977.hp1 others(2): Show |
intron_variant | MODIFIER | c.1751-446dupA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826816 | |||||
| chrX:18826816
|
GA | G | 2 | a0001c0001t0001g0051a0001c0001t0001g0120 | 2 | HG00280.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1751-446delA | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | 18826816 | |||||
| chrX:18826848
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1751-428A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826848 | ||||||
| chrX:18826912
|
C | G | 28 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(25): Show | 28 | HG01070.hp1 HG01243.hp1 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1751-364C>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826912 | ||||||
| chrX:18826930
|
T | C | 3 | a0001c0003t0001g0082a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | HG02451.hp1 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1751-346T>C | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18826930 | ||||||
| chrX:18827254
|
A | G | 6 | a0001c0001t0001g0081a0001c0001t0001g0089a0001c0001t0001g0117others(3): Show | 6 | HG02451.hp1 HG02970.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1751-22A>G | PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 15/15 | chrX | 18827254 |