Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 56474 |
|---|---|
| ensemblid | ENSG00000047230.15 |
| hgncid | 2520 |
| symbol | CTPS2 |
| name | CTP synthase 2 |
| refseq_nuc | NM_175859.3 |
| refseq_prot | NP_787055.1 |
| ensembl_nuc | ENST00000359276.9 |
| ensembl_prot | ENSP00000352222.4 |
| mane_status | MANE Select |
| chr | chrX |
| start | 16587999 |
| end | 16712669 |
| strand | - |
| ver | v1.2 |
| region | chrX:16587999-16712669 |
| region5000 | chrX:16582999-16717669 |
| regionname0 | CTPS2_chrX_16587999_16712669 |
| regionname5000 | CTPS2_chrX_16582999_16717669 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 1761 | 197 | 52 | 41 | 78 | 7 | 17 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| c0002 | 0/0 | 1761 | 27 | 8 | 4 | 12 | 0 | 3 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| c0003 | 0/0 | 1761 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| c0004 | 0/0 | 1760 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 2192 | 123 | 7 | 27 | 68 | 6 | 15 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0002 | 0/1 | 2194 | 71 | 34 | 13 | 18 | 1 | 4 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0003 | 0/0 | 2194 | 9 | 6 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0004 | 0/0 | 2192 | 6 | 6 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0005 | 0/0 | 2194 | 4 | 1 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0006 | 0/0 | 2192 | 2 | 0 | 0 | 2 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0007 | 0/0 | 2194 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0008 | 0/0 | 2194 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0009 | 0/0 | 2192 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0010 | 0/0 | 2192 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0011 | 0/0 | 2194 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0012 | 1/0 | 2193 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0013 | 0/0 | 2194 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0014 | 0/0 | 2192 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| t0015 | 0/0 | 2194 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0047 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0064 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1761 | 197 | 52 | 41 | 78 | 7 | 17 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0002 | 0/0 | 1761 | 27 | 8 | 4 | 12 | 0 | 3 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0003 | 0/0 | 1761 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0002c0004 | 0/0 | 1760 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3952 | 122 | 7 | 27 | 67 | 6 | 15 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0002 | 0/1 | 3954 | 44 | 27 | 8 | 6 | 1 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0003 | 0/0 | 3954 | 9 | 6 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0004 | 0/0 | 3952 | 6 | 6 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0005 | 0/0 | 3954 | 4 | 1 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0006 | 0/0 | 3952 | 2 | 0 | 0 | 2 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0007 | 0/0 | 3954 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0008 | 0/0 | 3954 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0009 | 0/0 | 3952 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0010 | 0/0 | 3952 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0012 | 1/0 | 3953 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0013 | 0/0 | 3954 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0014 | 0/0 | 3952 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0001t0015 | 0/0 | 3954 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0002t0002 | 0/0 | 3954 | 26 | 7 | 4 | 12 | 0 | 3 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0002t0011 | 0/0 | 3954 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0001c0003t0002 | 0/0 | 3954 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| a0002c0004t0001 | 0/0 | 3951 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | copy fasta | chrX | 16582999 | 16717669 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0064 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0006g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0006g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0007g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0007g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0008g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0008g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0009g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0010g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0012g0047 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0013g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0014g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0015g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0011g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0003t0002g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0002c0004t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0174 | EUR | GBR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0020 | EUR | FIN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00438 | hp2 | a0001 | c0002 | t0002 | g0148 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0073 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00733 | hp2 | a0001 | c0001 | t0003 | g0200 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0126 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0217 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01069 | hp1 | a0001 | c0001 | t0003 | g0163 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01070 | hp1 | a0001 | c0001 | t0003 | g0009 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01070 | hp2 | a0001 | c0001 | t0002 | g0015 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01074 | hp1 | a0001 | c0001 | t0005 | g0068 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01106 | hp1 | a0001 | c0003 | t0002 | g0136 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0021 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0202 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01256 | hp1 | a0001 | c0001 | t0002 | g0049 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01258 | hp1 | a0001 | c0001 | t0005 | g0051 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0122 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01346 | hp1 | a0001 | c0001 | t0005 | g0071 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0120 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0110 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0072 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0053 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0035 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0181 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01975 | hp2 | a0001 | c0002 | t0002 | g0212 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01978 | hp1 | a0001 | c0002 | t0002 | g0215 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0109 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0069 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02040 | hp1 | a0001 | c0001 | t0006 | g0112 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0192 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02074 | hp1 | a0001 | c0001 | t0002 | g0221 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0169 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0121 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | CDX | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0172 | EAS | CDX | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0087 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0134 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02280 | hp2 | a0001 | c0001 | t0003 | g0214 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0028 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02293 | hp2 | a0001 | c0002 | t0002 | g0211 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0188 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02451 | hp2 | a0001 | c0002 | t0011 | g0074 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02523 | hp2 | a0001 | c0002 | t0002 | g0056 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0194 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0189 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02615 | hp1 | a0001 | c0002 | t0002 | g0213 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02630 | hp1 | a0001 | c0001 | t0002 | g0043 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02630 | hp2 | a0001 | c0002 | t0002 | g0218 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0040 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0222 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0023 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02717 | hp1 | a0001 | c0001 | t0004 | g0024 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0193 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0164 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02738 | hp1 | a0001 | c0001 | t0014 | g0225 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02809 | hp1 | a0001 | c0001 | t0003 | g0176 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02809 | hp2 | a0001 | c0001 | t0004 | g0026 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0127 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0205 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0007 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0141 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02897 | hp1 | a0001 | c0001 | t0004 | g0037 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02897 | hp2 | a0001 | c0001 | t0003 | g0140 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02976 | hp1 | a0001 | c0001 | t0004 | g0025 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0019 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0050 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0195 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0161 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0178 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03130 | hp1 | a0001 | c0001 | t0007 | g0165 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03139 | hp1 | a0001 | c0001 | t0004 | g0032 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0010 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0039 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0076 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0219 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03453 | hp1 | a0001 | c0001 | t0015 | g0226 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03453 | hp2 | a0001 | c0001 | t0007 | g0162 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0199 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03486 | hp2 | a0001 | c0001 | t0008 | g0204 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03490 | hp1 | a0001 | c0002 | t0002 | g0096 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0139 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0065 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03540 | hp2 | a0001 | c0001 | t0003 | g0177 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0031 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0223 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0093 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | BEB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0038 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0092 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0048 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18522 | hp1 | a0001 | c0001 | t0004 | g0033 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CHB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | CHB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0017 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0042 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18952 | hp1 | a0001 | c0002 | t0002 | g0100 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18953 | hp1 | a0001 | c0001 | t0013 | g0117 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0170 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18971 | hp1 | a0001 | c0001 | t0010 | g0111 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18975 | hp2 | a0001 | c0002 | t0002 | g0078 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18989 | hp1 | a0001 | c0001 | t0009 | g0001 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18991 | hp1 | a0001 | c0002 | t0002 | g0124 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19003 | hp2 | a0001 | c0002 | t0002 | g0003 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0137 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19043 | hp1 | a0001 | c0001 | t0005 | g0067 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0125 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19066 | hp1 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19072 | hp1 | a0002 | c0004 | t0001 | g0201 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19079 | hp1 | a0001 | c0002 | t0002 | g0101 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19081 | hp1 | a0001 | c0002 | t0002 | g0057 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19081 | hp2 | a0001 | c0001 | t0006 | g0183 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19083 | hp1 | a0001 | c0002 | t0002 | g0224 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19086 | hp1 | a0001 | c0002 | t0002 | g0135 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19089 | hp1 | a0001 | c0002 | t0002 | g0061 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0066 | EUR | TSI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0044 | EUR | TSI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0054 | SAS | GIH | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0006 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02559 | hp2 | a0001 | c0002 | t0002 | g0203 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03471 | hp1 | a0001 | c0002 | t0002 | g0075 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0041 | AFR | USA | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0131 | AFR | USA | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA21309 | hp1 | a0001 | c0002 | t0002 | g0198 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0064 | REF | REF | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0012 | g0047 | REF | REF | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| 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:16689560
|
AG | A | 1 | a0002 | 1 | NA19072.hp1 | frameshift_variant | HIGH | c.761delC | p.Pro254fs | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/19 | 1135/3953 | 761/1761 | 254/586 | chrX | 16689560 |
| 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:16609633
|
C | T | 1 | a0001c0002 | 27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
synonymous_variant | LOW | c.1599G>A | p.Pro533Pro | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/19 | 1973/3953 | 1599/1761 | 533/586 | chrX | 16609633 | ||
| chrX:16639229
|
G | C | 1 | a0001c0003 | 1 | HG01106.hp1 | synonymous_variant | LOW | c.1311C>G | p.Pro437Pro | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/19 | 1685/3953 | 1311/1761 | 437/586 | chrX | 16639229 |
| 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:16588109
|
G | T | 1 | a0001c0002t0011 | 1 | HG02451.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1708C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2684 | chrX | 16588109 | |||||
| chrX:16588117
|
A | AG | 1 | a0001c0001t0013 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1699dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2675 | chrX | 16588117 | |||||
| chrX:16588148
|
C | T | 9 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | 90 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(87): Show |
3_prime_UTR_variant | MODIFIER | c.*1669G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2645 | chrX | 16588148 | |||||
| chrX:16588167
|
C | CTT | 9 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | 90 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(87): Show |
3_prime_UTR_variant | MODIFIER | c.*1648_*1649dupAA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2625 | chrX | 16588167 | |||||
| chrX:16588306
|
TC | T | 1 | a0001c0001t0013 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1510delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2486 | chrX | 16588306 | |||||
| chrX:16588314
|
T | C | 1 | a0001c0001t0006 | 2 | HG02040.hp1 NA19081.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1503A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2479 | chrX | 16588314 | |||||
| chrX:16588368
|
G | T | 2 | a0001c0001t0003a0001c0001t0007 | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1449C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2425 | chrX | 16588368 | |||||
| chrX:16588487
|
A | G | 1 | a0001c0001t0007 | 2 | HG03130.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1330T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2306 | chrX | 16588487 | |||||
| chrX:16588556
|
GC | G | 17 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | 225 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(222): Show |
3_prime_UTR_variant | MODIFIER | c.*1260delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2236 | chrX | 16588556 | |||||
| chrX:16588642
|
G | GA | 1 | a0001c0001t0013 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1174dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2150 | chrX | 16588642 | |||||
| chrX:16588706
|
G | A | 2 | a0001c0001t0003a0001c0001t0007 | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1111C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2087 | chrX | 16588706 | |||||
| chrX:16588730
|
C | CA | 1 | a0001c0001t0013 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1086dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2062 | chrX | 16588730 | |||||
| chrX:16588964
|
T | C | 1 | a0001c0001t0008 | 2 | HG03098.hp1 HG03486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*853A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1829 | chrX | 16588964 | |||||
| chrX:16589265
|
C | T | 1 | a0001c0001t0005 | 4 | HG01074.hp1 HG01258.hp1 HG01346.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*552G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1528 | chrX | 16589265 | |||||
| chrX:16589407
|
A | G | 1 | a0001c0001t0010 | 1 | NA18971.hp1 | 3_prime_UTR_variant | MODIFIER | c.*410T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1386 | chrX | 16589407 | |||||
| chrX:16589560
|
G | A | 1 | a0001c0001t0004 | 6 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*257C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1233 | chrX | 16589560 | |||||
| chrX:16712386
|
C | T | 1 | a0001c0001t0009 | 1 | NA18989.hp1 | 5_prime_UTR_variant | MODIFIER | c.-91G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9484 | chrX | 16712386 | |||||
| chrX:16712561
|
G | A | 1 | a0001c0001t0014 | 1 | HG02738.hp1 | 5_prime_UTR_variant | MODIFIER | c.-266C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9659 | chrX | 16712561 | |||||
| chrX:16712660
|
T | C | 1 | a0001c0001t0015 | 1 | HG03453.hp1 | 5_prime_UTR_variant | MODIFIER | c.-365A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9758 | chrX | 16712660 |
| 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:16590124
|
A | G | 1 | a0001c0001t0002g0125 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.*42-349T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590124 | ||||||
| chrX:16590221
|
GTTTTA | G | 30 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(27): Show | 30 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.*42-451_*42-447del others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590221 | ||||||
| chrX:16590336
|
A | G | 1 | a0001c0001t0001g0138 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.*41+416T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590336 | ||||||
| chrX:16590344
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.*41+408A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590344 | ||||||
| chrX:16590399
|
T | C | 1 | a0001c0001t0001g0081 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.*41+353A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590399 | ||||||
| chrX:16590414
|
C | A | 1 | a0001c0001t0008g0204 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.*41+338G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590414 | ||||||
| chrX:16590538
|
T | C | 3 | a0001c0001t0001g0167a0001c0001t0006g0112a0001c0001t0006g0183 | 3 | HG02040.hp1 NA18975.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.*41+214A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590538 | ||||||
| chrX:16590539
|
A | AT | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.*41+212dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590539 | ||||||
| chrX:16590541
|
T | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.*41+211A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590541 | ||||||
| chrX:16590584
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.*41+168G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590584 | ||||||
| chrX:16590612
|
T | C | 2 | a0001c0001t0002g0131a0001c0002t0011g0074 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.*41+140A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590612 | ||||||
| chrX:16590670
|
G | A | 225 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(222): Show | 225 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(222): Show |
intron_variant | MODIFIER | c.*41+82C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590670 | ||||||
| chrX:16590728
|
C | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.*41+24G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590728 | ||||||
| chrX:16590896
|
TA | T | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1692-35delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16590896 | ||||||
| chrX:16591031
|
A | C | 1 | a0001c0001t0002g0017 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1692-169T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591031 | ||||||
| chrX:16591230
|
G | A | 5 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0076others(2): Show | 5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-368C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591230 | ||||||
| chrX:16591230
|
G | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-368C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591230 | ||||||
| chrX:16591295
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-433A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591295 | ||||||
| chrX:16591331
|
A | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-469T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591331 | ||||||
| chrX:16591542
|
G | A | 1 | a0001c0001t0001g0093 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1692-680C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591542 | ||||||
| chrX:16591834
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1692-972G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591834 | ||||||
| chrX:16592076
|
C | CT | 1 | a0001c0001t0001g0099 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1692-1215dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592076 | ||||||
| chrX:16592076
|
CT | C | 14 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1692-1215delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592076 | ||||||
| chrX:16592104
|
A | AGT | 1 | a0001c0001t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1692-1244_1692-124 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592104 | ||||||
| chrX:16592260
|
C | G | 1 | a0001c0001t0001g0159 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1692-1398G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592260 | ||||||
| chrX:16592399
|
T | C | 214 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(211): Show | 214 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(211): Show |
intron_variant | MODIFIER | c.1692-1537A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592399 | ||||||
| chrX:16592399
|
T | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-1537A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592399 | ||||||
| chrX:16592514
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-1652G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592514 | ||||||
| chrX:16592665
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1692-1803A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592665 | ||||||
| chrX:16592673
|
C | T | 1 | a0001c0001t0001g0115 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1692-1811G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592673 | ||||||
| chrX:16593065
|
T | C | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1692-2203A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593065 | ||||||
| chrX:16593230
|
T | C | 6 | a0001c0001t0002g0039a0001c0001t0002g0043a0001c0001t0002g0134others(3): Show | 6 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.1692-2368A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593230 | ||||||
| chrX:16593298
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1692-2436C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593298 | ||||||
| chrX:16593428
|
C | CA | 21 | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0001g0058others(18): Show | 21 | HG00738.hp1 HG01109.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.1692-2567dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593428 | ||||||
| chrX:16593428
|
CA | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-2567delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593428 | ||||||
| chrX:16593477
|
C | CT | 46 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0010others(43): Show | 46 | HG00438.hp2 HG01070.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.1692-2616dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593477 | ||||||
| chrX:16593477
|
C | CTT | 26 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(23): Show | 26 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.1692-2617_1692-261 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593477 | ||||||
| chrX:16593477
|
C | CTTT | 1 | a0001c0001t0002g0028 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1692-2618_1692-261 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593477 | ||||||
| chrX:16593696
|
G | C | 1 | a0001c0002t0002g0211 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1692-2834C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593696 | ||||||
| chrX:16593871
|
G | A | 1 | a0001c0001t0001g0144 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1692-3009C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593871 | ||||||
| chrX:16593982
|
T | C | 2 | a0001c0002t0002g0096a0001c0002t0002g0223 | 2 | HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1692-3120A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593982 | ||||||
| chrX:16594029
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-3167A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594029 | ||||||
| chrX:16594059
|
C | T | 1 | a0001c0001t0002g0040 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1692-3197G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594059 | ||||||
| chrX:16594238
|
T | G | 1 | a0001c0001t0001g0154 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1692-3376A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594238 | ||||||
| chrX:16595162
|
T | TAC | 27 | a0001c0001t0001g0139a0001c0001t0001g0145a0001c0001t0001g0146others(24): Show | 27 | HG00438.hp2 HG01106.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1692-4302_1692-430 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | ||||||
| chrX:16595162
|
T | TACAC | 37 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(34): Show | 37 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(34): Show |
intron_variant | MODIFIER | c.1692-4304_1692-430 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | ||||||
| chrX:16595162
|
T | TACACAC | 2 | a0001c0001t0002g0039a0001c0001t0002g0120 | 2 | HG01361.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1692-4306_1692-430 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | ||||||
| chrX:16595162
|
TAC | T | 12 | a0001c0001t0002g0023a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-4302_1692-430 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | ||||||
| chrX:16595162
|
TACACACA others(7): Show |
T | 1 | a0001c0001t0001g0046 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1692-4314_1692-430 others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | ||||||
| chrX:16595343
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1692-4481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595343 | ||||||
| chrX:16595362
|
A | T | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1692-4500T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595362 | ||||||
| chrX:16595481
|
T | C | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1692-4619A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595481 | ||||||
| chrX:16595558
|
G | A | 2 | a0001c0001t0002g0127a0001c0003t0002g0136 | 2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1692-4696C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595558 | ||||||
| chrX:16595647
|
A | G | 2 | a0001c0001t0002g0064a0001c0001t0002g0126 | 2 | HG00735.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1692-4785T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595647 | ||||||
| chrX:16595771
|
C | T | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-4909G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595771 | ||||||
| chrX:16596059
|
G | A | 2 | a0001c0001t0002g0072a0001c0001t0002g0217 | 2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1692-5197C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596059 | ||||||
| chrX:16596170
|
C | T | 1 | a0001c0001t0015g0226 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1692-5308G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596170 | ||||||
| chrX:16596178
|
GT | G | 5 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0076others(2): Show | 5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-5317delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596178 | ||||||
| chrX:16596188
|
G | GT | 12 | a0001c0001t0001g0080a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-5327dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596188 | ||||||
| chrX:16596188
|
GT | G | 25 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0023others(22): Show | 25 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.1692-5327delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596188 | ||||||
| chrX:16596199
|
T | A | 5 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0076others(2): Show | 5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-5337A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596199 | ||||||
| chrX:16596281
|
G | A | 2 | a0001c0001t0001g0138a0001c0001t0002g0039 | 2 | HG03195.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1692-5419C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596281 | ||||||
| chrX:16596301
|
G | A | 19 | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0056others(16): Show | 19 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.1692-5439C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596301 | ||||||
| chrX:16596382
|
C | A | 2 | a0001c0001t0002g0127a0001c0003t0002g0136 | 2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1692-5520G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596382 | ||||||
| chrX:16596542
|
A | G | 37 | a0001c0001t0002g0131a0001c0001t0003g0009a0001c0001t0003g0140others(34): Show | 37 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.1692-5680T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596542 | ||||||
| chrX:16596740
|
C | G | 5 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0193others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1692-5878G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596740 | ||||||
| chrX:16596811
|
C | T | 8 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0015others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1692-5949G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596811 | ||||||
| chrX:16596812
|
G | A | 38 | a0001c0001t0002g0039a0001c0001t0002g0131a0001c0001t0003g0009others(35): Show | 38 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.1692-5950C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596812 | ||||||
| chrX:16596903
|
A | G | 2 | a0001c0001t0002g0064a0001c0001t0002g0126 | 2 | HG00735.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1692-6041T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596903 | ||||||
| chrX:16597251
|
C | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-6389G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597251 | ||||||
| chrX:16597287
|
G | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-6425C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597287 | ||||||
| chrX:16597465
|
C | G | 39 | a0001c0001t0002g0039a0001c0001t0002g0131a0001c0001t0003g0009others(36): Show | 39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1692-6603G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597465 | ||||||
| chrX:16597505
|
G | T | 1 | a0001c0003t0002g0136 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1692-6643C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597505 | ||||||
| chrX:16597579
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-6717A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597579 | ||||||
| chrX:16597710
|
G | GT | 1 | a0001c0001t0001g0220 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1692-6849dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597710 | ||||||
| chrX:16597765
|
A | C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-6903T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597765 | ||||||
| chrX:16597909
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-7047G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597909 | ||||||
| chrX:16598110
|
A | AG | 225 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(222): Show | 225 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(222): Show |
intron_variant | MODIFIER | c.1692-7249_1692-724 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598110 | ||||||
| chrX:16598119
|
C | T | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1692-7257G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598119 | ||||||
| chrX:16598120
|
T | G | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1692-7258A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598120 | ||||||
| chrX:16598233
|
C | T | 1 | a0001c0001t0014g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1692-7371G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598233 | ||||||
| chrX:16598242
|
T | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-7380A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598242 | ||||||
| chrX:16598351
|
C | T | 23 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0064others(20): Show | 23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1692-7489G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598351 | ||||||
| chrX:16598385
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0173others(2): Show | 5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-7523C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598385 | ||||||
| chrX:16598640
|
T | C | 12 | a0001c0001t0001g0063a0001c0001t0001g0149a0001c0001t0001g0153others(9): Show | 12 | HG01928.hp1 HG01934.hp1 HG01978.hp2 others(9): Show |
intron_variant | MODIFIER | c.1692-7778A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598640 | ||||||
| chrX:16598697
|
A | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-7835T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598697 | ||||||
| chrX:16598826
|
C | T | 3 | a0001c0001t0001g0013a0001c0001t0001g0083a0001c0001t0001g0181 | 3 | HG01952.hp1 NA18956.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1692-7964G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598826 | ||||||
| chrX:16598839
|
A | G | 1 | a0001c0001t0002g0221 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1692-7977T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598839 | ||||||
| chrX:16598951
|
C | A | 5 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0193others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1692-8089G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598951 | ||||||
| chrX:16599089
|
G | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8227C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599089 | ||||||
| chrX:16599144
|
G | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8282C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599144 | ||||||
| chrX:16599171
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8309A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599171 | ||||||
| chrX:16599467
|
C | CTT | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1692-8607_1692-860 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599467 | ||||||
| chrX:16599476
|
C | CT | 3 | a0001c0001t0001g0206a0001c0001t0001g0220a0002c0004t0001g0201 | 3 | NA18940.hp1 NA19012.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1692-8615dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | ||||||
| chrX:16599476
|
C | CTTT | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-8617_1692-861 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | ||||||
| chrX:16599476
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1692-8614G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | ||||||
| chrX:16599476
|
CT | C | 57 | a0001c0001t0001g0020a0001c0001t0001g0063a0001c0001t0002g0006others(54): Show | 57 | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(54): Show |
intron_variant | MODIFIER | c.1692-8615delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | ||||||
| chrX:16599476
|
CTT | C | 1 | a0001c0001t0002g0018 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1692-8616_1692-861 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | ||||||
| chrX:16599634
|
G | A | 1 | a0001c0001t0002g0049 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1692-8772C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599634 | ||||||
| chrX:16599740
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-8878G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599740 | ||||||
| chrX:16599775
|
A | AC | 14 | a0001c0001t0001g0029a0001c0001t0001g0086a0001c0001t0001g0114others(11): Show | 14 | HG00673.hp1 HG02523.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.1692-8914dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599775 | ||||||
| chrX:16599775
|
A | ACC | 2 | a0001c0001t0002g0043a0001c0001t0002g0192 | 2 | HG02055.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1692-8915_1692-891 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599775 | ||||||
| chrX:16599775
|
AC | A | 65 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(62): Show | 65 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(62): Show |
intron_variant | MODIFIER | c.1692-8914delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599775 | ||||||
| chrX:16599782
|
C | A | 1 | a0001c0001t0001g0168 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1692-8920G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599782 | ||||||
| chrX:16599784
|
C | CT | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1692-8923dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599784 | ||||||
| chrX:16599975
|
C | T | 1 | a0001c0001t0001g0207 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1692-9113G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599975 | ||||||
| chrX:16599992
|
TG | T | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1692-9131delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599992 | ||||||
| chrX:16600100
|
G | A | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1692-9238C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600100 | ||||||
| chrX:16600133
|
T | TC | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1692-9272dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600133 | ||||||
| chrX:16600171
|
AT | A | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1692-9310delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600171 | ||||||
| chrX:16600299
|
TG | T | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1691+9241delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600299 | ||||||
| chrX:16600375
|
A | ATGTTTTA others(35): Show |
1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9165_1691+916 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600375 | ||||||
| chrX:16600463
|
G | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9078C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600463 | ||||||
| chrX:16600464
|
C | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9077G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600464 | ||||||
| chrX:16600483
|
T | A | 1 | a0001c0002t0002g0188 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1691+9058A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600483 | ||||||
| chrX:16600509
|
AT | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9031delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600509 | ||||||
| chrX:16600522
|
T | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9019A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600522 | ||||||
| chrX:16600549
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8991delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600549 | ||||||
| chrX:16600557
|
TG | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8983delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600557 | ||||||
| chrX:16600579
|
GT | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8961delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600579 | ||||||
| chrX:16600682
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8858delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600682 | ||||||
| chrX:16600704
|
GT | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8836delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600704 | ||||||
| chrX:16600738
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8802delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600738 | ||||||
| chrX:16600785
|
TA | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8755delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600785 | ||||||
| chrX:16600812
|
GA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8728delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600812 | ||||||
| chrX:16600817
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8723delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600817 | ||||||
| chrX:16600848
|
CT | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8692delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600848 | ||||||
| chrX:16600874
|
GGA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8665_1691+866 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600874 | ||||||
| chrX:16600880
|
T | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8661A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600880 | ||||||
| chrX:16600914
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8626delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600914 | ||||||
| chrX:16600917
|
C | G | 1 | a0001c0001t0001g0142 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1691+8624G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600917 | ||||||
| chrX:16600947
|
GGA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8592_1691+859 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600947 | ||||||
| chrX:16600991
|
CAAT | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8547_1691+854 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600991 | ||||||
| chrX:16601063
|
A | AC | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8477_1691+847 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601063 | ||||||
| chrX:16601071
|
T | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8470A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601071 | ||||||
| chrX:16601079
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8461delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601079 | ||||||
| chrX:16601112
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8428delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601112 | ||||||
| chrX:16601157
|
A | AC | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8383_1691+838 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601157 | ||||||
| chrX:16601273
|
C | CT | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8267_1691+826 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601273 | ||||||
| chrX:16601274
|
A | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8267T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601274 | ||||||
| chrX:16601278
|
CTG | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8261_1691+826 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601278 | ||||||
| chrX:16601327
|
AC | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8213delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601327 | ||||||
| chrX:16601352
|
C | T | 1 | a0001c0001t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1691+8189G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601352 | ||||||
| chrX:16601377
|
C | T | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1691+8164G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601377 | ||||||
| chrX:16601407
|
GA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8133delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601407 | ||||||
| chrX:16601468
|
TG | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8072delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601468 | ||||||
| chrX:16601497
|
TG | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8043delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601497 | ||||||
| chrX:16601507
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8033delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601507 | ||||||
| chrX:16601552
|
T | C | 2 | a0001c0001t0001g0060a0001c0001t0001g0062 | 2 | NA19056.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.1691+7989A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601552 | ||||||
| chrX:16601572
|
C | CG | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1691+7968dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | ||||||
| chrX:16601572
|
CG | C | 80 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0027others(77): Show | 80 | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.1691+7968delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | ||||||
| chrX:16601572
|
CGG | C | 99 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(96): Show | 99 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.1691+7967_1691+796 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | ||||||
| chrX:16601572
|
CGGG | C | 32 | a0001c0001t0001g0156a0001c0001t0002g0006a0001c0001t0002g0017others(29): Show | 32 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.1691+7966_1691+796 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | ||||||
| chrX:16601572
|
CGGGGG | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+7964_1691+796 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | ||||||
| chrX:16601578
|
G | A | 1 | a0001c0001t0002g0193 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1691+7963C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601578 | ||||||
| chrX:16601579
|
G | C | 2 | a0001c0001t0001g0058a0001c0001t0001g0099 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1691+7962C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601579 | ||||||
| chrX:16601583
|
G | C | 4 | a0001c0001t0001g0013a0001c0001t0001g0083a0001c0001t0001g0181others(1): Show | 4 | HG01952.hp1 HG03139.hp1 NA18956.hp1 others(1): Show |
intron_variant | MODIFIER | c.1691+7958C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601583 | ||||||
| chrX:16601584
|
GGT | G | 1 | a0001c0001t0008g0204 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1691+7955_1691+795 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601584 | ||||||
| chrX:16601585
|
G | T | 2 | a0001c0001t0002g0039a0001c0002t0002g0135 | 2 | HG03195.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.1691+7956C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601585 | ||||||
| chrX:16601585
|
GT | G | 1 | a0001c0001t0008g0178 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1691+7955delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601585 | ||||||
| chrX:16601593
|
TC | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7947delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601593 | ||||||
| chrX:16601608
|
G | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7933C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601608 | ||||||
| chrX:16601611
|
GA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7929delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601611 | ||||||
| chrX:16601613
|
T | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7928A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601613 | ||||||
| chrX:16601617
|
T | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7924A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601617 | ||||||
| chrX:16601618
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7923G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601618 | ||||||
| chrX:16601623
|
C | T | 1 | a0001c0001t0001g0210 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1691+7918G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601623 | ||||||
| chrX:16601627
|
GA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7913delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601627 | ||||||
| chrX:16601639
|
GGA | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7900_1691+790 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601639 | ||||||
| chrX:16601642
|
G | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7899C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601642 | ||||||
| chrX:16601655
|
A | AG | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7885dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601655 | ||||||
| chrX:16601692
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7848delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601692 | ||||||
| chrX:16601697
|
T | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7844A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601697 | ||||||
| chrX:16601739
|
CATA | C | 2 | a0001c0001t0001g0110a0001c0001t0002g0049 | 2 | HG01256.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1691+7799_1691+780 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601739 | ||||||
| chrX:16601744
|
TA | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7796delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601744 | ||||||
| chrX:16601751
|
C | T | 1 | a0001c0001t0002g0221 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1691+7790G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601751 | ||||||
| chrX:16601757
|
A | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+7784T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601757 | ||||||
| chrX:16601760
|
T | TA | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7780_1691+778 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601760 | ||||||
| chrX:16601782
|
CG | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7758delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601782 | ||||||
| chrX:16601967
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7574G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601967 | ||||||
| chrX:16601968
|
CT | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7572delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601968 | ||||||
| chrX:16601980
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7560delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601980 | ||||||
| chrX:16601991
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7549delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601991 | ||||||
| chrX:16602017
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7523delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602017 | ||||||
| chrX:16602030
|
AC | A | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+7510delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602030 | ||||||
| chrX:16602048
|
A | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+7493T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602048 | ||||||
| chrX:16602065
|
G | GA | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7475_1691+747 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602065 | ||||||
| chrX:16602084
|
G | GGA | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7456_1691+745 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602084 | ||||||
| chrX:16602086
|
G | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7455C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602086 | ||||||
| chrX:16602096
|
AG | A | 2 | a0001c0001t0001g0156a0001c0002t0002g0135 | 2 | NA19075.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.1691+7444delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602096 | ||||||
| chrX:16602169
|
TG | T | 2 | a0001c0001t0001g0156a0001c0002t0002g0135 | 2 | NA19075.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.1691+7371delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602169 | ||||||
| chrX:16602195
|
GA | G | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+7345delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602195 | ||||||
| chrX:16602296
|
AC | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7244delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602296 | ||||||
| chrX:16602310
|
G | GT | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7230dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602310 | ||||||
| chrX:16602322
|
AG | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7218delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602322 | ||||||
| chrX:16602328
|
C | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+7213G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602328 | ||||||
| chrX:16602328
|
CG | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7212delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602328 | ||||||
| chrX:16602365
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7175delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602365 | ||||||
| chrX:16602372
|
G | GT | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7168dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602372 | ||||||
| chrX:16602376
|
GT | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7164delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602376 | ||||||
| chrX:16602422
|
CT | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7118delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602422 | ||||||
| chrX:16602476
|
TC | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7064delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602476 | ||||||
| chrX:16602498
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7043G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602498 | ||||||
| chrX:16602499
|
T | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7042A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602499 | ||||||
| chrX:16602501
|
AT | A | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7039delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602501 | ||||||
| chrX:16602532
|
T | C | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1691+7009A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602532 | ||||||
| chrX:16602553
|
TA | T | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+6987delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602553 | ||||||
| chrX:16602792
|
A | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6749T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602792 | ||||||
| chrX:16603058
|
T | C | 3 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018 | 3 | HG02559.hp1 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1691+6483A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603058 | ||||||
| chrX:16603139
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6402A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603139 | ||||||
| chrX:16603206
|
G | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6335C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603206 | ||||||
| chrX:16603285
|
C | CG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+6255dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603285 | ||||||
| chrX:16603286
|
G | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6255C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603286 | ||||||
| chrX:16603309
|
C | G | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+6232G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603309 | ||||||
| chrX:16603416
|
A | AAAAAT | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+6124_1691+612 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
A | AAAAT | 57 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0029others(54): Show | 57 | HG00438.hp1 HG00738.hp1 HG01099.hp1 others(54): Show |
intron_variant | MODIFIER | c.1691+6121_1691+612 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
A | AAAATAAA others(1): Show |
68 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0022others(65): Show | 68 | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.1691+6117_1691+612 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
A | AAAATAAA others(5): Show |
8 | a0001c0001t0001g0020a0001c0001t0001g0050a0001c0001t0001g0119others(5): Show | 8 | HG00280.hp1 HG02135.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1691+6113_1691+612 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
AAAAT | A | 6 | a0001c0001t0004g0024a0001c0001t0004g0025a0001c0001t0004g0026others(3): Show | 6 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1691+6121_1691+612 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
AAAATAAA others(5): Show |
A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+6113_1691+612 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603416
|
AAAATAAA others(9): Show |
A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+6109_1691+612 others(20): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | ||||||
| chrX:16603430
|
A | AATAAATA others(1): Show |
27 | a0001c0002t0002g0003a0001c0002t0002g0005a0001c0002t0002g0021others(24): Show | 27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1691+6110_1691+611 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603430 | ||||||
| chrX:16603461
|
C | G | 1 | a0001c0001t0001g0055 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1691+6080G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603461 | ||||||
| chrX:16603556
|
T | TA | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5984dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603556 | ||||||
| chrX:16603565
|
G | T | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+5976C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603565 | ||||||
| chrX:16603585
|
A | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5956T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603585 | ||||||
| chrX:16603586
|
TC | T | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5954delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603586 | ||||||
| chrX:16603612
|
C | CTAT | 70 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(67): Show | 70 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(67): Show |
intron_variant | MODIFIER | c.1691+5926_1691+592 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603612 | ||||||
| chrX:16603714
|
CT | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5826delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603714 | ||||||
| chrX:16603734
|
CT | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5806delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603734 | ||||||
| chrX:16603890
|
A | AC | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+5650dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603890 | ||||||
| chrX:16604000
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+5541A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604000 | ||||||
| chrX:16604051
|
CGGCTTTT | C | 1 | a0001c0002t0002g0215 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1691+5483_1691+548 others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604051 | ||||||
| chrX:16604061
|
G | T | 1 | a0001c0002t0002g0215 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1691+5480C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604061 | ||||||
| chrX:16604449
|
G | A | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1691+5092C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604449 | ||||||
| chrX:16604565
|
G | T | 1 | a0001c0001t0001g0167 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1691+4976C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604565 | ||||||
| chrX:16604581
|
CT | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+4959delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604581 | ||||||
| chrX:16604584
|
T | TG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+4956dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604584 | ||||||
| chrX:16604586
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+4955C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604586 | ||||||
| chrX:16604601
|
C | CG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+4939dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604601 | ||||||
| chrX:16604642
|
C | CA | 13 | a0001c0001t0001g0145a0001c0001t0002g0039a0001c0001t0003g0009others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1691+4898dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604642 | ||||||
| chrX:16604642
|
CA | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+4898delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604642 | ||||||
| chrX:16604646
|
A | C | 1 | a0001c0001t0002g0006 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1691+4895T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604646 | ||||||
| chrX:16604681
|
GCT | G | 1 | a0001c0001t0001g0182 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1691+4858_1691+485 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604681 | ||||||
| chrX:16604785
|
C | T | 4 | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0001g0116others(1): Show | 4 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.1691+4756G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604785 | ||||||
| chrX:16605060
|
T | C | 1 | a0001c0001t0002g0126 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1691+4481A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605060 | ||||||
| chrX:16605312
|
C | T | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+4229G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605312 | ||||||
| chrX:16605450
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+4091C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605450 | ||||||
| chrX:16605450
|
G | T | 1 | a0001c0002t0002g0003 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1691+4091C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605450 | ||||||
| chrX:16605461
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+4080G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605461 | ||||||
| chrX:16605575
|
A | AG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+3965dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605575 | ||||||
| chrX:16605590
|
C | CG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+3950dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605590 | ||||||
| chrX:16605656
|
A | AG | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+3884dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605656 | ||||||
| chrX:16605746
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+3795A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605746 | ||||||
| chrX:16605814
|
A | AC | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1691+3726dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605814 | ||||||
| chrX:16605900
|
G | C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+3641C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605900 | ||||||
| chrX:16605944
|
G | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+3597C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605944 | ||||||
| chrX:16606089
|
C | A | 1 | a0001c0001t0001g0050 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1691+3452G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606089 | ||||||
| chrX:16606101
|
G | A | 36 | a0001c0001t0001g0029a0001c0001t0001g0038a0001c0001t0001g0044others(33): Show | 36 | HG00738.hp1 HG01099.hp1 HG01168.hp1 others(33): Show |
intron_variant | MODIFIER | c.1691+3440C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606101 | ||||||
| chrX:16606180
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+3361A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606180 | ||||||
| chrX:16606583
|
G | A | 5 | a0001c0001t0002g0012a0001c0001t0002g0134a0001c0001t0002g0193others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1691+2958C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606583 | ||||||
| chrX:16606767
|
C | CT | 1 | a0001c0001t0014g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1691+2773dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606767 | ||||||
| chrX:16606854
|
C | T | 26 | a0001c0002t0002g0005a0001c0002t0002g0021a0001c0002t0002g0031others(23): Show | 26 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(23): Show |
intron_variant | MODIFIER | c.1691+2687G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606854 | ||||||
| chrX:16606971
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+2570G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606971 | ||||||
| chrX:16607724
|
C | T | 1 | a0001c0002t0002g0096 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1691+1817G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16607724 | ||||||
| chrX:16607859
|
C | T | 1 | a0001c0001t0008g0178 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1691+1682G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16607859 | ||||||
| chrX:16608009
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+1532G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608009 | ||||||
| chrX:16608145
|
G | T | 5 | a0001c0001t0001g0016a0001c0001t0001g0081a0001c0001t0001g0182others(2): Show | 5 | HG01243.hp1 HG02486.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1691+1396C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608145 | ||||||
| chrX:16608220
|
A | G | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1691+1321T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608220 | ||||||
| chrX:16608226
|
A | T | 10 | a0001c0001t0001g0082a0001c0001t0001g0094a0001c0001t0001g0095others(7): Show | 10 | HG01099.hp1 HG01168.hp1 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.1691+1315T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608226 | ||||||
| chrX:16608230
|
T | A | 28 | a0001c0001t0001g0187a0001c0001t0002g0131a0001c0002t0002g0005others(25): Show | 28 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(25): Show |
intron_variant | MODIFIER | c.1691+1311A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608230 | ||||||
| chrX:16608321
|
T | C | 1 | a0001c0001t0001g0139 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1691+1220A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608321 | ||||||
| chrX:16608322
|
C | T | 1 | a0001c0001t0001g0139 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1691+1219G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608322 | ||||||
| chrX:16608907
|
G | T | 75 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(72): Show | 75 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(72): Show |
intron_variant | MODIFIER | c.1691+634C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608907 | ||||||
| chrX:16609060
|
G | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16609060 | ||||||
| chrX:16609217
|
A | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+324T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16609217 | ||||||
| chrX:16609850
|
A | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-165T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609850 | ||||||
| chrX:16609853
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1547-168A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609853 | ||||||
| chrX:16609881
|
T | C | 1 | a0001c0001t0002g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1547-196A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609881 | ||||||
| chrX:16610220
|
C | A | 1 | a0001c0002t0002g0061 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1547-535G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610220 | ||||||
| chrX:16610342
|
T | G | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1547-657A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610342 | ||||||
| chrX:16610403
|
A | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-718T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610403 | ||||||
| chrX:16610676
|
T | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1547-991A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610676 | ||||||
| chrX:16610876
|
G | C | 1 | a0001c0001t0002g0006 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1547-1191C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610876 | ||||||
| chrX:16610878
|
C | A | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1547-1193G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610878 | ||||||
| chrX:16611052
|
G | C | 1 | a0001c0001t0002g0041 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1547-1367C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611052 | ||||||
| chrX:16611166
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-1481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611166 | ||||||
| chrX:16611259
|
G | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1547-1574C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611259 | ||||||
| chrX:16611409
|
C | A | 1 | a0001c0001t0001g0184 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1547-1724G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611409 | ||||||
| chrX:16611522
|
T | TA | 2 | a0001c0001t0001g0143a0001c0001t0002g0134 | 2 | HG02280.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.1547-1838dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611522 | ||||||
| chrX:16611522
|
T | TAA | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1547-1839_1547-183 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611522 | ||||||
| chrX:16611522
|
TA | T | 64 | a0001c0001t0001g0022a0001c0001t0001g0087a0001c0001t0001g0116others(61): Show | 64 | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.1547-1838delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611522 | ||||||
| chrX:16611526
|
A | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-1841T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611526 | ||||||
| chrX:16611761
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2076C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611761 | ||||||
| chrX:16611766
|
G | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2081C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611766 | ||||||
| chrX:16611795
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2110G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611795 | ||||||
| chrX:16611826
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-2141G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611826 | ||||||
| chrX:16612488
|
C | T | 28 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(25): Show | 28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1547-2803G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16612488 | ||||||
| chrX:16612872
|
T | C | 1 | a0001c0001t0001g0144 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1547-3187A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16612872 | ||||||
| chrX:16613016
|
C | G | 1 | a0001c0002t0002g0031 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1547-3331G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613016 | ||||||
| chrX:16613140
|
C | T | 2 | a0001c0001t0001g0036a0001c0001t0001g0123 | 2 | HG00438.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1547-3455G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613140 | ||||||
| chrX:16613235
|
C | T | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1547-3550G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613235 | ||||||
| chrX:16613484
|
G | A | 1 | a0001c0001t0005g0051 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1546+3666C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613484 | ||||||
| chrX:16613495
|
A | T | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+3655T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613495 | ||||||
| chrX:16613500
|
G | A | 1 | a0001c0001t0001g0014 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1546+3650C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613500 | ||||||
| chrX:16613568
|
G | T | 1 | a0001c0001t0004g0024 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1546+3582C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613568 | ||||||
| chrX:16613602
|
C | CT | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+3547dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613602 | ||||||
| chrX:16613699
|
T | G | 1 | a0001c0001t0002g0017 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1546+3451A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613699 | ||||||
| chrX:16613825
|
A | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1546+3325T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613825 | ||||||
| chrX:16613856
|
G | A | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1546+3294C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613856 | ||||||
| chrX:16613896
|
G | C | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1546+3254C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613896 | ||||||
| chrX:16613938
|
C | T | 1 | a0001c0001t0004g0025 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1546+3212G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613938 | ||||||
| chrX:16614105
|
TA | T | 4 | a0001c0001t0001g0079a0001c0001t0001g0190a0001c0001t0001g0222others(1): Show | 4 | HG01346.hp1 HG02015.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.1546+3044delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614105 | ||||||
| chrX:16614198
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1546+2952G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614198 | ||||||
| chrX:16614252
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1546+2898G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614252 | ||||||
| chrX:16614366
|
C | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+2784G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614366 | ||||||
| chrX:16614439
|
G | A | 1 | a0001c0001t0013g0117 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1546+2711C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614439 | ||||||
| chrX:16614605
|
A | G | 16 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0193others(13): Show | 16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1546+2545T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614605 | ||||||
| chrX:16614889
|
A | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1546+2261T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614889 | ||||||
| chrX:16615132
|
C | T | 1 | a0001c0001t0001g0151 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1546+2018G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615132 | ||||||
| chrX:16615276
|
C | CTGCA | 1 | a0001c0001t0004g0024 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1546+1870_1546+187 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615276 | ||||||
| chrX:16615338
|
CA | C | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1546+1811delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615338 | ||||||
| chrX:16615610
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1546+1540G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615610 | ||||||
| chrX:16615988
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1546+1162G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615988 | ||||||
| chrX:16616079
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1546+1071C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616079 | ||||||
| chrX:16616107
|
C | T | 1 | a0001c0001t0014g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1546+1043G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616107 | ||||||
| chrX:16616112
|
G | C | 1 | a0001c0001t0001g0055 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1546+1038C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616112 | ||||||
| chrX:16616237
|
G | T | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1546+913C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616237 | ||||||
| chrX:16616409
|
G | A | 1 | a0001c0001t0005g0067 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1546+741C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616409 | ||||||
| chrX:16616494
|
AGAG | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1546+653_1546+655d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616494 | ||||||
| chrX:16616938
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0173others(2): Show | 5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.1546+212C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616938 | ||||||
| chrX:16617825
|
G | A | 1 | a0001c0001t0009g0001 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1450-579C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16617825 | ||||||
| chrX:16617927
|
T | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1450-681A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16617927 | ||||||
| chrX:16618007
|
A | C | 1 | a0001c0001t0001g0157 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1450-761T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618007 | ||||||
| chrX:16618039
|
A | G | 26 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(23): Show | 26 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.1450-793T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618039 | ||||||
| chrX:16618089
|
C | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1450-843G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618089 | ||||||
| chrX:16619005
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1449+1272C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619005 | ||||||
| chrX:16619008
|
C | T | 1 | a0001c0001t0007g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1449+1269G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619008 | ||||||
| chrX:16619009
|
G | A | 5 | a0001c0002t0002g0021a0001c0002t0002g0075a0001c0002t0002g0137others(2): Show | 5 | HG01109.hp1 HG02559.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1449+1268C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619009 | ||||||
| chrX:16619117
|
A | G | 26 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(23): Show | 26 | HG00280.hp1 HG00642.hp1 HG01168.hp2 others(23): Show |
intron_variant | MODIFIER | c.1449+1160T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619117 | ||||||
| chrX:16619118
|
T | C | 28 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(25): Show | 28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1449+1159A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619118 | ||||||
| chrX:16619151
|
C | T | 3 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0118 | 3 | HG00642.hp1 HG01975.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1449+1126G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619151 | ||||||
| chrX:16619931
|
T | C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1449+346A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619931 | ||||||
| chrX:16620350
|
C | T | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-18G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620350 | ||||||
| chrX:16620421
|
ACTAT | A | 2 | a0001c0001t0002g0127a0001c0003t0002g0136 | 2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1394-93_1394-90del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620421 | ||||||
| chrX:16620487
|
T | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-155A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620487 | ||||||
| chrX:16620516
|
T | C | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-184A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620516 | ||||||
| chrX:16620532
|
C | A | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-200G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620532 | ||||||
| chrX:16620771
|
G | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-439C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620771 | ||||||
| chrX:16620847
|
G | A | 28 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(25): Show | 28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1394-515C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620847 | ||||||
| chrX:16621238
|
G | A | 2 | a0001c0001t0002g0072a0001c0001t0002g0217 | 2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1394-906C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621238 | ||||||
| chrX:16621269
|
T | C | 74 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0007others(71): Show | 74 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(71): Show |
intron_variant | MODIFIER | c.1394-937A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621269 | ||||||
| chrX:16621273
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1394-941T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621273 | ||||||
| chrX:16621325
|
G | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-993C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621325 | ||||||
| chrX:16621446
|
T | TATA | 32 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(29): Show | 32 | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(29): Show |
intron_variant | MODIFIER | c.1394-1117_1394-111 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | ||||||
| chrX:16621446
|
T | TATAATA | 5 | a0001c0001t0001g0093a0001c0001t0001g0155a0001c0001t0002g0012others(2): Show | 5 | HG01192.hp1 HG02615.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1394-1120_1394-111 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | ||||||
| chrX:16621446
|
T | TATAATAA others(2): Show |
3 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0073 | 3 | HG00609.hp1 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1394-1123_1394-111 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | ||||||
| chrX:16621446
|
TATAATAA others(2): Show |
T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-1123_1394-111 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | ||||||
| chrX:16621671
|
A | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-1339T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621671 | ||||||
| chrX:16622126
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1394-1794G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622126 | ||||||
| chrX:16622334
|
G | A | 1 | a0001c0001t0001g0167 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1394-2002C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622334 | ||||||
| chrX:16622409
|
C | CA | 10 | a0001c0001t0003g0140a0001c0001t0003g0141a0001c0001t0003g0163others(7): Show | 10 | HG00733.hp2 HG01069.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.1394-2078dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622409 | ||||||
| chrX:16622583
|
A | G | 12 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-2251T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622583 | ||||||
| chrX:16622696
|
A | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-2364T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622696 | ||||||
| chrX:16622710
|
C | T | 23 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0064others(20): Show | 23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1394-2378G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622710 | ||||||
| chrX:16623046
|
CTAG | C | 1 | a0001c0001t0001g0145 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1394-2717_1394-271 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623046 | ||||||
| chrX:16623129
|
T | C | 14 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1394-2797A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623129 | ||||||
| chrX:16623408
|
G | GC | 1 | a0001c0001t0001g0145 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1394-3077dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623408 | ||||||
| chrX:16623691
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1394-3359G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623691 | ||||||
| chrX:16623792
|
C | CT | 2 | a0001c0001t0001g0052a0001c0001t0001g0054 | 2 | HG03942.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1394-3461dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTT | 3 | a0001c0002t0002g0003a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG03471.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1394-3462_1394-346 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTTT | 11 | a0001c0002t0002g0031a0001c0002t0002g0061a0001c0002t0002g0101others(8): Show | 11 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(8): Show |
intron_variant | MODIFIER | c.1394-3463_1394-346 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTTTT | 11 | a0001c0001t0002g0039a0001c0002t0002g0021a0001c0002t0002g0056others(8): Show | 11 | HG00438.hp2 HG01109.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-3464_1394-346 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTTTTT | 1 | a0001c0002t0002g0005 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1394-3465_1394-346 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTTTTTT | 1 | a0001c0001t0008g0204 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1394-3466_1394-346 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
C | CTTTTTTT | 1 | a0001c0001t0008g0178 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1394-3467_1394-346 others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
CT | C | 112 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(109): Show | 112 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.1394-3461delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
CTT | C | 25 | a0001c0001t0001g0130a0001c0001t0001g0159a0001c0001t0002g0018others(22): Show | 25 | HG00609.hp1 HG00735.hp2 HG01168.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-3462_1394-346 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
CTTT | C | 1 | a0001c0001t0005g0068 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1394-3463_1394-346 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623792
|
CTTTTTTT others(6): Show |
C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-3473_1394-346 others(17): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | ||||||
| chrX:16623845
|
G | A | 27 | a0001c0001t0002g0039a0001c0001t0008g0178a0001c0001t0008g0204others(24): Show | 27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-3513C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623845 | ||||||
| chrX:16624133
|
G | A | 6 | a0001c0001t0002g0064a0001c0001t0002g0126a0001c0001t0005g0051others(3): Show | 6 | HG00735.hp1 HG01074.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.1394-3801C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624133 | ||||||
| chrX:16624139
|
A | AATAATGA others(35): Show |
1 | a0001c0001t0002g0076 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394-3849_1394-380 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624139 | ||||||
| chrX:16624140
|
A | G | 9 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0015others(6): Show | 9 | HG01070.hp2 HG02055.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394-3808T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624140 | ||||||
| chrX:16624144
|
T | C | 39 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(36): Show | 39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1394-3812A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624144 | ||||||
| chrX:16624185
|
C | T | 28 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(25): Show | 28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1394-3853G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624185 | ||||||
| chrX:16624560
|
T | C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-4228A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624560 | ||||||
| chrX:16624897
|
T | TA | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-4566dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624897 | ||||||
| chrX:16624941
|
A | G | 1 | a0001c0002t0002g0223 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1394-4609T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624941 | ||||||
| chrX:16624960
|
T | G | 39 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(36): Show | 39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1394-4628A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624960 | ||||||
| chrX:16625012
|
C | G | 2 | a0001c0001t0001g0013a0001c0001t0001g0083 | 2 | NA18956.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1394-4680G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625012 | ||||||
| chrX:16625149
|
G | A | 25 | a0001c0001t0002g0039a0001c0002t0002g0005a0001c0002t0002g0021others(22): Show | 25 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(22): Show |
intron_variant | MODIFIER | c.1394-4817C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625149 | ||||||
| chrX:16625164
|
C | CA | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-4833dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625164 | ||||||
| chrX:16625210
|
G | A | 27 | a0001c0001t0002g0039a0001c0001t0008g0178a0001c0001t0008g0204others(24): Show | 27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-4878C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625210 | ||||||
| chrX:16625306
|
A | T | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1394-4974T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625306 | ||||||
| chrX:16625307
|
T | G | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1394-4975A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625307 | ||||||
| chrX:16625506
|
TG | T | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-5175delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625506 | ||||||
| chrX:16625642
|
T | C | 1 | a0001c0001t0002g0076 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394-5310A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625642 | ||||||
| chrX:16625676
|
C | T | 18 | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0056others(15): Show | 18 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(15): Show |
intron_variant | MODIFIER | c.1394-5344G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625676 | ||||||
| chrX:16625676
|
CG | C | 1 | a0001c0001t0013g0117 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1394-5345delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625676 | ||||||
| chrX:16625727
|
G | GAGGA | 38 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(35): Show | 38 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.1394-5396_1394-539 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625727 | ||||||
| chrX:16625772
|
TC | T | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-5441delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625772 | ||||||
| chrX:16625782
|
A | G | 68 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0017others(65): Show | 68 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(65): Show |
intron_variant | MODIFIER | c.1394-5450T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625782 | ||||||
| chrX:16625845
|
T | C | 2 | a0001c0001t0002g0007a0001c0001t0002g0131 | 2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1394-5513A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625845 | ||||||
| chrX:16625916
|
G | A | 2 | a0001c0001t0001g0173a0001c0001t0001g0175 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1394-5584C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625916 | ||||||
| chrX:16626054
|
G | A | 1 | a0001c0001t0001g0054 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1394-5722C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626054 | ||||||
| chrX:16626227
|
CA | C | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-5896delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626227 | ||||||
| chrX:16626318
|
T | C | 28 | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0018others(25): Show | 28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1394-5986A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626318 | ||||||
| chrX:16626380
|
CA | C | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1394-6049delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626380 | ||||||
| chrX:16626431
|
AG | A | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-6100delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626431 | ||||||
| chrX:16626492
|
G | A | 1 | a0001c0001t0001g0119 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1394-6160C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626492 | ||||||
| chrX:16627002
|
G | T | 7 | a0001c0001t0001g0081a0001c0001t0004g0024a0001c0001t0004g0025others(4): Show | 7 | HG02486.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1394-6670C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627002 | ||||||
| chrX:16627076
|
T | G | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1394-6744A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627076 | ||||||
| chrX:16627116
|
G | A | 1 | a0001c0001t0002g0006 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1394-6784C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627116 | ||||||
| chrX:16627178
|
A | G | 3 | a0001c0001t0001g0079a0001c0001t0001g0190a0001c0001t0001g0222 | 3 | HG02015.hp1 HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1394-6846T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627178 | ||||||
| chrX:16627373
|
G | A | 24 | a0001c0001t0002g0006a0001c0001t0002g0023a0001c0001t0002g0041others(21): Show | 24 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.1394-7041C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627373 | ||||||
| chrX:16627460
|
T | C | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-7128A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627460 | ||||||
| chrX:16627545
|
C | T | 8 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0015others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1394-7213G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627545 | ||||||
| chrX:16627578
|
C | CG | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-7247_1394-724 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627578 | ||||||
| chrX:16627580
|
C | G | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1394-7248G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627580 | ||||||
| chrX:16627632
|
GC | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-7301delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627632 | ||||||
| chrX:16627641
|
G | A | 4 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0030others(1): Show | 4 | HG00280.hp1 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-7309C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627641 | ||||||
| chrX:16627742
|
T | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-7410A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627742 | ||||||
| chrX:16627817
|
A | AC | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-7486dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627817 | ||||||
| chrX:16627914
|
G | C | 4 | a0001c0001t0001g0058a0001c0001t0001g0099a0001c0001t0001g0110others(1): Show | 4 | HG00738.hp1 HG01256.hp1 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394-7582C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627914 | ||||||
| chrX:16628083
|
G | A | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1394-7751C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628083 | ||||||
| chrX:16628145
|
C | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-7813G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628145 | ||||||
| chrX:16628377
|
GT | G | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-8046delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628377 | ||||||
| chrX:16628404
|
C | T | 4 | a0001c0001t0004g0024a0001c0001t0004g0025a0001c0001t0004g0026others(1): Show | 4 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-8072G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628404 | ||||||
| chrX:16628458
|
T | TG | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1394-8127dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628458 | ||||||
| chrX:16628531
|
A | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8199T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628531 | ||||||
| chrX:16628555
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-8223C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628555 | ||||||
| chrX:16628569
|
T | C | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1394-8237A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628569 | ||||||
| chrX:16628589
|
G | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8257C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628589 | ||||||
| chrX:16628602
|
G | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-8270C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628602 | ||||||
| chrX:16628692
|
T | A | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1394-8360A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628692 | ||||||
| chrX:16628780
|
G | A | 1 | a0001c0001t0002g0064 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1394-8448C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628780 | ||||||
| chrX:16628908
|
C | T | 2 | a0001c0001t0001g0058a0001c0001t0001g0099 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1394-8576G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628908 | ||||||
| chrX:16628936
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1394-8604G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628936 | ||||||
| chrX:16628947
|
C | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8615G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628947 | ||||||
| chrX:16628947
|
C | T | 1 | a0001c0001t0001g0189 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1394-8615G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628947 | ||||||
| chrX:16629130
|
A | G | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-8798T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629130 | ||||||
| chrX:16629185
|
T | C | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-8853A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629185 | ||||||
| chrX:16629341
|
G | A | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1394-9009C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629341 | ||||||
| chrX:16629382
|
G | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-9050C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629382 | ||||||
| chrX:16629408
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-9076C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629408 | ||||||
| chrX:16629532
|
A | AT | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-9201dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629532 | ||||||
| chrX:16629532
|
AT | A | 29 | a0001c0001t0001g0088a0001c0001t0002g0008a0001c0001t0002g0017others(26): Show | 29 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.1394-9201delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629532 | ||||||
| chrX:16629556
|
C | CT | 2 | a0001c0001t0002g0064a0001c0001t0002g0126 | 2 | HG00735.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1394-9225dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629556 | ||||||
| chrX:16629568
|
C | T | 1 | a0001c0001t0001g0151 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1394-9236G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629568 | ||||||
| chrX:16629585
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-9253C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629585 | ||||||
| chrX:16629699
|
C | T | 4 | a0001c0001t0002g0008a0001c0001t0002g0076a0001c0001t0002g0127others(1): Show | 4 | HG01106.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-9367G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629699 | ||||||
| chrX:16629804
|
C | A | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1393+9343G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629804 | ||||||
| chrX:16630152
|
G | GC | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+8994dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630152 | ||||||
| chrX:16630183
|
G | GT | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+8963dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630183 | ||||||
| chrX:16630201
|
A | G | 2 | a0001c0001t0002g0007a0001c0001t0002g0131 | 2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1393+8946T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630201 | ||||||
| chrX:16630251
|
A | AT | 27 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0084others(24): Show | 27 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.1393+8895dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | ||||||
| chrX:16630251
|
A | T | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+8896T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | ||||||
| chrX:16630251
|
AT | A | 16 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0022others(13): Show | 16 | HG00280.hp1 HG01106.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1393+8895delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | ||||||
| chrX:16630251
|
ATT | A | 24 | a0001c0001t0002g0023a0001c0001t0002g0028a0001c0001t0002g0041others(21): Show | 24 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.1393+8894_1393+889 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | ||||||
| chrX:16630251
|
ATTTTTT | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1393+8890_1393+889 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | ||||||
| chrX:16630272
|
T | TG | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1393+8874dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630272 | ||||||
| chrX:16630298
|
A | T | 1 | a0001c0001t0002g0069 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1393+8849T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630298 | ||||||
| chrX:16630349
|
G | A | 2 | a0001c0001t0001g0058a0001c0001t0001g0099 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1393+8798C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630349 | ||||||
| chrX:16630382
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+8765C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630382 | ||||||
| chrX:16630533
|
T | C | 14 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+8614A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630533 | ||||||
| chrX:16630549
|
C | CG | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+8597dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630549 | ||||||
| chrX:16630738
|
G | GT | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+8408dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630738 | ||||||
| chrX:16630789
|
G | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+8358C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630789 | ||||||
| chrX:16630895
|
C | CA | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+8251_1393+825 others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630895 | ||||||
| chrX:16631024
|
T | C | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+8123A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631024 | ||||||
| chrX:16631273
|
G | A | 1 | a0001c0001t0002g0072 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1393+7874C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631273 | ||||||
| chrX:16631347
|
C | CA | 1 | a0001c0001t0001g0143 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1393+7799dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631347 | ||||||
| chrX:16631347
|
CA | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+7799delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631347 | ||||||
| chrX:16631359
|
A | T | 1 | a0001c0001t0004g0037 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1393+7788T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631359 | ||||||
| chrX:16631370
|
T | C | 2 | a0001c0001t0002g0007a0001c0001t0002g0131 | 2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1393+7777A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631370 | ||||||
| chrX:16631402
|
C | T | 3 | a0001c0001t0001g0080a0001c0001t0001g0098a0001c0001t0001g0156 | 3 | NA18986.hp1 NA19006.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1393+7745G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631402 | ||||||
| chrX:16631440
|
GC | G | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+7706delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631440 | ||||||
| chrX:16631561
|
T | C | 1 | a0001c0001t0002g0015 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1393+7586A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631561 | ||||||
| chrX:16631639
|
C | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+7508G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631639 | ||||||
| chrX:16631900
|
T | TA | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1393+7246dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631900 | ||||||
| chrX:16632021
|
A | G | 5 | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0001g0116others(2): Show | 5 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+7126T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632021 | ||||||
| chrX:16632157
|
C | T | 4 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0066others(1): Show | 4 | HG02735.hp1 HG02818.hp1 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393+6990G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632157 | ||||||
| chrX:16632308
|
A | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+6839T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632308 | ||||||
| chrX:16632428
|
C | CT | 3 | a0001c0001t0001g0038a0001c0001t0001g0152a0001c0001t0002g0120 | 3 | HG01361.hp1 HG02056.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1393+6718dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632428 | ||||||
| chrX:16632432
|
T | C | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6715A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632432 | ||||||
| chrX:16633038
|
G | A | 3 | a0001c0001t0002g0012a0001c0001t0002g0127a0001c0003t0002g0136 | 3 | HG01106.hp1 HG02615.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1393+6109C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633038 | ||||||
| chrX:16633084
|
G | GT | 3 | a0001c0001t0001g0046a0001c0001t0001g0097a0001c0001t0001g0152 | 3 | HG02056.hp1 NA18961.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1393+6062dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | ||||||
| chrX:16633084
|
GT | G | 148 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(145): Show | 148 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.1393+6062delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | ||||||
| chrX:16633084
|
GTT | G | 4 | a0001c0001t0001g0016a0001c0001t0002g0039a0001c0001t0008g0178others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1393+6061_1393+606 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | ||||||
| chrX:16633084
|
GTTT | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6060_1393+606 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | ||||||
| chrX:16633091
|
T | G | 24 | a0001c0001t0002g0006a0001c0001t0002g0023a0001c0001t0002g0041others(21): Show | 24 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.1393+6056A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633091 | ||||||
| chrX:16633093
|
T | G | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1393+6054A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633093 | ||||||
| chrX:16633139
|
G | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6008C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633139 | ||||||
| chrX:16633261
|
AT | A | 1 | a0001c0001t0001g0208 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1393+5885delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633261 | ||||||
| chrX:16633335
|
C | T | 1 | a0001c0001t0006g0112 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1393+5812G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633335 | ||||||
| chrX:16633458
|
C | T | 1 | a0001c0001t0002g0017 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1393+5689G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633458 | ||||||
| chrX:16633526
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1393+5621C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633526 | ||||||
| chrX:16633666
|
A | G | 3 | a0001c0002t0002g0211a0001c0002t0002g0212a0001c0002t0002g0215 | 3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1393+5481T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633666 | ||||||
| chrX:16633910
|
TC | T | 1 | a0001c0001t0001g0208 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1393+5236delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633910 | ||||||
| chrX:16634097
|
C | A | 1 | a0001c0001t0001g0092 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1393+5050G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634097 | ||||||
| chrX:16634701
|
C | A | 5 | a0001c0002t0002g0021a0001c0002t0002g0075a0001c0002t0002g0137others(2): Show | 5 | HG01109.hp1 HG02559.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1393+4446G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634701 | ||||||
| chrX:16634792
|
A | T | 1 | a0001c0001t0005g0067 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1393+4355T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634792 | ||||||
| chrX:16634905
|
T | C | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1393+4242A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634905 | ||||||
| chrX:16634957
|
G | GA | 1 | a0001c0001t0001g0152 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1393+4189dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634957 | ||||||
| chrX:16634957
|
GA | G | 23 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0064others(20): Show | 23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1393+4189delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634957 | ||||||
| chrX:16634959
|
A | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+4188T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634959 | ||||||
| chrX:16635000
|
G | A | 1 | a0001c0001t0005g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1393+4147C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635000 | ||||||
| chrX:16635008
|
A | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+4139T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635008 | ||||||
| chrX:16635144
|
T | C | 1 | a0001c0001t0002g0069 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1393+4003A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635144 | ||||||
| chrX:16635363
|
G | GA | 5 | a0001c0001t0001g0129a0001c0001t0001g0189a0001c0001t0001g0196others(2): Show | 5 | HG01109.hp1 HG02602.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+3783dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635363 | ||||||
| chrX:16635374
|
G | A | 1 | a0001c0001t0001g0197 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1393+3773C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635374 | ||||||
| chrX:16635597
|
C | G | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+3550G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635597 | ||||||
| chrX:16635771
|
T | C | 3 | a0001c0002t0002g0021a0001c0002t0002g0137a0001c0002t0002g0203 | 3 | HG01109.hp1 HG02559.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1393+3376A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635771 | ||||||
| chrX:16635817
|
A | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1393+3330T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635817 | ||||||
| chrX:16635989
|
G | T | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+3158C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635989 | ||||||
| chrX:16636287
|
C | T | 2 | a0001c0001t0001g0150a0001c0001t0001g0155 | 2 | HG00639.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.1393+2860G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636287 | ||||||
| chrX:16636335
|
C | T | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1393+2812G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636335 | ||||||
| chrX:16636350
|
A | ATGCCACT others(1853): Show |
1 | a0001c0001t0002g0193 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1393+2796_1393+279 others(1864): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636350 | ||||||
| chrX:16636396
|
A | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2751T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636396 | ||||||
| chrX:16636653
|
G | A | 30 | a0001c0001t0002g0008a0001c0001t0002g0012a0001c0001t0002g0017others(27): Show | 30 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.1393+2494C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636653 | ||||||
| chrX:16636741
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2406C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636741 | ||||||
| chrX:16636768
|
C | CA | 14 | a0001c0001t0001g0004a0001c0001t0001g0077a0001c0001t0002g0039others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2378dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636768 | ||||||
| chrX:16636789
|
C | T | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+2358G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636789 | ||||||
| chrX:16636809
|
T | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2338A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636809 | ||||||
| chrX:16636896
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1393+2251C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636896 | ||||||
| chrX:16636904
|
C | G | 14 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2243G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636904 | ||||||
| chrX:16636912
|
G | A | 14 | a0001c0001t0002g0039a0001c0001t0003g0009a0001c0001t0003g0140others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2235C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636912 | ||||||
| chrX:16636926
|
T | A | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+2221A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636926 | ||||||
| chrX:16636927
|
A | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2220T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636927 | ||||||
| chrX:16636929
|
A | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+2218T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636929 | ||||||
| chrX:16637288
|
G | A | 1 | a0001c0002t0002g0218 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1393+1859C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637288 | ||||||
| chrX:16637573
|
T | C | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+1574A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637573 | ||||||
| chrX:16637678
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+1469G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637678 | ||||||
| chrX:16637773
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+1374C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637773 | ||||||
| chrX:16638083
|
A | G | 116 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0020others(113): Show | 116 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.1393+1064T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638083 | ||||||
| chrX:16638123
|
T | C | 129 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0020others(126): Show | 129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.1393+1024A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638123 | ||||||
| chrX:16638124
|
A | G | 15 | a0001c0001t0002g0039a0001c0001t0002g0120a0001c0001t0003g0009others(12): Show | 15 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.1393+1023T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638124 | ||||||
| chrX:16638204
|
G | A | 1 | a0001c0001t0001g0139 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1393+943C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638204 | ||||||
| chrX:16638254
|
C | CA | 7 | a0001c0001t0001g0013a0001c0001t0001g0154a0001c0001t0001g0190others(4): Show | 7 | HG02015.hp1 HG02683.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1393+892dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638254 | ||||||
| chrX:16638254
|
C | CAA | 1 | a0001c0001t0001g0079 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1393+891_1393+892d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638254 | ||||||
| chrX:16638254
|
CA | C | 5 | a0001c0001t0001g0063a0001c0001t0001g0085a0001c0001t0001g0119others(2): Show | 5 | HG01515.hp1 HG02809.hp1 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+892delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638254 | ||||||
| chrX:16638367
|
C | T | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1393+780G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638367 | ||||||
| chrX:16638583
|
T | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+564A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638583 | ||||||
| chrX:16638998
|
G | A | 2 | a0001c0001t0002g0008a0001c0001t0002g0076 | 2 | HG03209.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1393+149C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638998 | ||||||
| chrX:16639033
|
C | T | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1393+114G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16639033 | ||||||
| chrX:16639313
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-70C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639313 | ||||||
| chrX:16639504
|
C | T | 1 | a0001c0001t0008g0178 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1297-261G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639504 | ||||||
| chrX:16639731
|
G | GAGAA | 11 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0040others(8): Show | 11 | HG01109.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-492_1297-489d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639731 | ||||||
| chrX:16639731
|
GAGAA | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-492_1297-489d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639731 | ||||||
| chrX:16639734
|
A | AG | 1 | a0001c0001t0001g0156 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1297-492_1297-491i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639734 | ||||||
| chrX:16639776
|
G | GA | 2 | a0001c0001t0002g0072a0001c0001t0002g0170 | 2 | HG01515.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.1297-534dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639776 | ||||||
| chrX:16639777
|
A | AAAAAG | 10 | a0001c0001t0002g0028a0001c0001t0002g0041a0001c0001t0002g0064others(7): Show | 10 | HG00609.hp1 HG00735.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.1297-535_1297-534i others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAAGAA others(2): Show |
3 | a0001c0001t0002g0006a0001c0001t0002g0126a0001c0001t0005g0067 | 3 | HG00735.hp1 HG02559.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1297-535_1297-534i others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAAGAA others(6): Show |
5 | a0001c0001t0002g0120a0001c0001t0002g0125a0001c0001t0002g0169others(2): Show | 5 | HG01361.hp1 HG02135.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-535_1297-534i others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAAGAA others(10): Show |
1 | a0001c0001t0002g0161 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1297-535_1297-534i others(19): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAG | 41 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0034others(38): Show | 41 | HG00140.hp1 HG00438.hp1 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.1297-538_1297-535d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAGAAA others(1): Show |
31 | a0001c0001t0001g0030a0001c0001t0001g0048a0001c0001t0001g0050others(28): Show | 31 | HG00621.hp1 HG01070.hp1 HG01070.hp2 others(28): Show |
intron_variant | MODIFIER | c.1297-542_1297-535d others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAGAAA others(5): Show |
7 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0142others(4): Show | 7 | HG01106.hp1 HG02735.hp1 HG03942.hp1 others(4): Show |
intron_variant | MODIFIER | c.1297-546_1297-535d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
A | AAAAGAAA others(9): Show |
2 | a0001c0001t0001g0004a0001c0001t0001g0119 | 2 | NA18955.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1297-550_1297-535d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
AAAAG | A | 32 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0070others(29): Show | 32 | HG00642.hp1 HG00673.hp1 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.1297-538_1297-535d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
AAAAGAAA others(1): Show |
A | 20 | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0083others(17): Show | 20 | HG00639.hp1 HG01167.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.1297-542_1297-535d others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
AAAAGAAA others(5): Show |
A | 4 | a0001c0001t0001g0036a0001c0001t0001g0196a0001c0001t0001g0197others(1): Show | 4 | HG02071.hp1 HG03486.hp2 NA18747.hp1 others(1): Show |
intron_variant | MODIFIER | c.1297-546_1297-535d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
AAAAGAAA others(9): Show |
A | 5 | a0001c0001t0001g0029a0001c0001t0001g0089a0001c0002t0002g0124others(2): Show | 5 | HG00438.hp2 HG02523.hp1 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-550_1297-535d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639777
|
AAAAGAAA others(13): Show |
A | 14 | a0001c0001t0001g0216a0001c0002t0002g0005a0001c0002t0002g0031others(11): Show | 14 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(11): Show |
intron_variant | MODIFIER | c.1297-554_1297-535d others(22): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | ||||||
| chrX:16639778
|
AAAG | A | 4 | a0001c0001t0002g0065a0001c0001t0002g0121a0001c0001t0002g0221others(1): Show | 4 | HG01074.hp1 HG02074.hp1 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.1297-538_1297-536d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639778 | ||||||
| chrX:16639778
|
AAAGAAAG others(4): Show |
A | 1 | a0001c0001t0002g0023 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1297-546_1297-536d others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639778 | ||||||
| chrX:16639825
|
GA | G | 1 | a0001c0001t0001g0091 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1297-583delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639825 | ||||||
| chrX:16639829
|
G | GA | 2 | a0001c0001t0001g0208a0001c0001t0002g0217 | 2 | HG00735.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.1297-587dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639829 | ||||||
| chrX:16639834
|
A | AG | 2 | a0001c0001t0002g0019a0001c0001t0002g0217 | 2 | HG00735.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1297-592_1297-591i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639834 | ||||||
| chrX:16640037
|
T | C | 3 | a0001c0001t0001g0079a0001c0001t0001g0190a0001c0001t0001g0222 | 3 | HG02015.hp1 HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1297-794A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640037 | ||||||
| chrX:16640190
|
T | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-947A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640190 | ||||||
| chrX:16640262
|
G | A | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-1019C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640262 | ||||||
| chrX:16640421
|
T | G | 1 | a0001c0001t0001g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1297-1178A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640421 | ||||||
| chrX:16640461
|
C | T | 5 | a0001c0001t0003g0163a0001c0001t0003g0164a0001c0001t0003g0176others(2): Show | 5 | HG00733.hp2 HG01069.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1297-1218G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640461 | ||||||
| chrX:16640516
|
A | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-1273T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640516 | ||||||
| chrX:16640621
|
G | A | 2 | a0001c0001t0001g0173a0001c0001t0001g0175 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1297-1378C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640621 | ||||||
| chrX:16640719
|
C | G | 26 | a0001c0001t0002g0006a0001c0001t0002g0023a0001c0001t0002g0028others(23): Show | 26 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.1297-1476G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640719 | ||||||
| chrX:16640781
|
G | GT | 1 | a0001c0001t0001g0105 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1297-1539dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640781 | ||||||
| chrX:16640977
|
C | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-1734G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640977 | ||||||
| chrX:16641152
|
A | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-1909T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641152 | ||||||
| chrX:16641161
|
A | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-1918T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641161 | ||||||
| chrX:16641289
|
C | A | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1297-2046G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641289 | ||||||
| chrX:16641312
|
C | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0040others(2): Show | 5 | HG02055.hp1 HG02647.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-2069G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641312 | ||||||
| chrX:16641337
|
T | TCCCAATA | 1 | a0001c0001t0001g0150 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1297-2101_1297-209 others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641337 | ||||||
| chrX:16641458
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-2215C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641458 | ||||||
| chrX:16641531
|
G | T | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-2288C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641531 | ||||||
| chrX:16641668
|
G | A | 1 | a0001c0001t0004g0026 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1297-2425C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641668 | ||||||
| chrX:16641719
|
G | C | 1 | a0001c0001t0002g0015 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1297-2476C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641719 | ||||||
| chrX:16641813
|
T | G | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-2570A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641813 | ||||||
| chrX:16641881
|
T | C | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1297-2638A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641881 | ||||||
| chrX:16642029
|
G | A | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-2786C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642029 | ||||||
| chrX:16642130
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-2887G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642130 | ||||||
| chrX:16642135
|
A | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-2892T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642135 | ||||||
| chrX:16642310
|
G | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-3067C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642310 | ||||||
| chrX:16642427
|
C | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-3184G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642427 | ||||||
| chrX:16642715
|
A | G | 2 | a0001c0001t0002g0028a0001c0001t0002g0195 | 2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1297-3472T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642715 | ||||||
| chrX:16642770
|
G | A | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1297-3527C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642770 | ||||||
| chrX:16643094
|
C | A | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-3851G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643094 | ||||||
| chrX:16643145
|
C | G | 2 | a0001c0001t0001g0002a0001c0001t0001g0174 | 2 | HG00140.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.1297-3902G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643145 | ||||||
| chrX:16643370
|
A | AT | 2 | a0001c0001t0001g0013a0001c0001t0001g0152 | 2 | HG02056.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1297-4128dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643370 | ||||||
| chrX:16643370
|
AT | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-4128delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643370 | ||||||
| chrX:16643480
|
T | C | 2 | a0001c0001t0001g0058a0001c0001t0001g0099 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1297-4237A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643480 | ||||||
| chrX:16643496
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1297-4253G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643496 | ||||||
| chrX:16643499
|
G | A | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-4256C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643499 | ||||||
| chrX:16643755
|
A | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-4512T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643755 | ||||||
| chrX:16643855
|
T | A | 2 | a0001c0001t0001g0196a0001c0001t0001g0197 | 2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1297-4612A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643855 | ||||||
| chrX:16644045
|
T | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-4802A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644045 | ||||||
| chrX:16644070
|
G | A | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-4827C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644070 | ||||||
| chrX:16644139
|
C | CT | 6 | a0001c0001t0001g0149a0001c0001t0001g0184a0001c0001t0007g0162others(3): Show | 6 | HG01978.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1297-4897dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644139 | ||||||
| chrX:16644139
|
CT | C | 2 | a0001c0001t0001g0022a0001c0001t0001g0090 | 2 | HG01168.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.1297-4897delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644139 | ||||||
| chrX:16644301
|
A | AT | 1 | a0001c0001t0001g0154 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1297-5059dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644301 | ||||||
| chrX:16644403
|
T | G | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-5160A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644403 | ||||||
| chrX:16644476
|
A | T | 2 | a0001c0001t0001g0157a0001c0001t0013g0117 | 2 | HG00673.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.1297-5233T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644476 | ||||||
| chrX:16644493
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-5250C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644493 | ||||||
| chrX:16644677
|
C | T | 1 | a0001c0001t0002g0010 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1297-5434G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644677 | ||||||
| chrX:16645139
|
T | C | 16 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194others(13): Show | 16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-5896A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645139 | ||||||
| chrX:16645150
|
C | CT | 1 | a0001c0001t0001g0154 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1297-5908dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645150 | ||||||
| chrX:16645150
|
C | CTTTT | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-5911_1297-590 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645150 | ||||||
| chrX:16645284
|
T | C | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6041A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645284 | ||||||
| chrX:16645340
|
T | C | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-6097A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645340 | ||||||
| chrX:16645431
|
G | A | 1 | a0001c0001t0001g0144 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1297-6188C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645431 | ||||||
| chrX:16645464
|
G | A | 1 | a0001c0001t0002g0010 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1297-6221C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645464 | ||||||
| chrX:16645708
|
A | G | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6465T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645708 | ||||||
| chrX:16645830
|
G | C | 3 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-6587C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645830 | ||||||
| chrX:16645890
|
C | G | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6647G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645890 | ||||||
| chrX:16646084
|
G | A | 1 | a0001c0001t0001g0168 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1297-6841C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646084 | ||||||
| chrX:16646125
|
A | G | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6882T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646125 | ||||||
| chrX:16646141
|
C | A | 16 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194others(13): Show | 16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-6898G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646141 | ||||||
| chrX:16646141
|
C | G | 114 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0020others(111): Show | 114 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(111): Show |
intron_variant | MODIFIER | c.1297-6898G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646141 | ||||||
| chrX:16646249
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1297-7006G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646249 | ||||||
| chrX:16646283
|
G | A | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-7040C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646283 | ||||||
| chrX:16646613
|
TG | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1297-7371delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646613 | ||||||
| chrX:16646765
|
G | C | 13 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-7522C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646765 | ||||||
| chrX:16646954
|
C | T | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-7711G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646954 | ||||||
| chrX:16646960
|
C | G | 3 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-7717G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646960 | ||||||
| chrX:16647112
|
A | AG | 1 | a0001c0001t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1297-7870dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647112 | ||||||
| chrX:16647255
|
C | CT | 16 | a0001c0001t0001g0059a0001c0001t0001g0081a0001c0001t0001g0110others(13): Show | 16 | HG01256.hp1 HG01361.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-8013dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTT | 3 | a0001c0001t0001g0052a0001c0001t0001g0095a0001c0001t0001g0142 | 3 | HG01255.hp1 HG03942.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1297-8014_1297-801 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTT | 2 | a0001c0001t0003g0163a0001c0001t0008g0178 | 2 | HG01069.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1297-8017_1297-801 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTTT | 9 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(6): Show | 9 | HG00733.hp2 HG01070.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.1297-8018_1297-801 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTTTT | 1 | a0001c0001t0003g0176 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1297-8019_1297-801 others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0003g0164 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1297-8020_1297-801 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTTTT others(2): Show |
1 | a0001c0001t0002g0193 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1297-8021_1297-801 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
C | CTTTTTTT others(4): Show |
1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-8023_1297-801 others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
CT | C | 21 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0046others(18): Show | 21 | HG01070.hp2 HG01099.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.1297-8013delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
CTT | C | 21 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0064others(18): Show | 21 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1297-8014_1297-801 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647255
|
CTTTTTTT others(1): Show |
C | 1 | a0001c0001t0002g0194 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1297-8020_1297-801 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | ||||||
| chrX:16647511
|
G | A | 1 | a0001c0002t0002g0031 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1297-8268C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647511 | ||||||
| chrX:16647557
|
C | T | 11 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-8314G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647557 | ||||||
| chrX:16647564
|
G | A | 3 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-8321C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647564 | ||||||
| chrX:16647649
|
A | G | 1 | a0001c0001t0002g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1297-8406T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647649 | ||||||
| chrX:16647820
|
G | A | 2 | a0001c0001t0001g0150a0001c0001t0001g0155 | 2 | HG00639.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.1297-8577C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647820 | ||||||
| chrX:16647983
|
T | TC | 1 | a0001c0001t0001g0154 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1297-8741dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647983 | ||||||
| chrX:16648059
|
C | T | 2 | a0001c0001t0001g0089a0001c0001t0001g0090 | 2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1297-8816G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648059 | ||||||
| chrX:16648299
|
A | AG | 1 | a0001c0001t0001g0154 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1297-9057dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648299 | ||||||
| chrX:16648428
|
C | G | 1 | a0001c0001t0001g0089 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1297-9185G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648428 | ||||||
| chrX:16648430
|
G | A | 1 | a0001c0001t0001g0054 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1297-9187C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648430 | ||||||
| chrX:16648432
|
T | TTGAAA | 1 | a0001c0001t0001g0054 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1297-9190_1297-918 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648432 | ||||||
| chrX:16648528
|
C | A | 3 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-9285G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648528 | ||||||
| chrX:16648528
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1297-9285G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648528 | ||||||
| chrX:16649101
|
C | T | 198 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(195): Show | 198 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(195): Show |
intron_variant | MODIFIER | c.1297-9858G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649101 | ||||||
| chrX:16649345
|
C | T | 9 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(6): Show | 9 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.1297-10102G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649345 | ||||||
| chrX:16649350
|
C | A | 8 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0015others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1297-10107G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649350 | ||||||
| chrX:16650102
|
T | G | 2 | a0001c0001t0002g0193a0001c0001t0002g0194 | 2 | HG02572.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.1297-10859A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650102 | ||||||
| chrX:16650374
|
C | T | 1 | a0001c0002t0002g0137 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1297-11131G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650374 | ||||||
| chrX:16650511
|
C | CT | 20 | a0001c0001t0001g0030a0001c0001t0001g0083a0001c0001t0001g0093others(17): Show | 20 | HG00621.hp1 HG01255.hp1 HG01358.hp1 others(17): Show |
intron_variant | MODIFIER | c.1297-11269dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | ||||||
| chrX:16650511
|
C | CTT | 12 | a0001c0001t0002g0007a0001c0001t0002g0194a0001c0001t0003g0009others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1297-11270_1297-11 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | ||||||
| chrX:16650511
|
C | CTTT | 1 | a0001c0001t0007g0165 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1297-11271_1297-11 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | ||||||
| chrX:16650511
|
CT | C | 31 | a0001c0001t0001g0216a0001c0001t0002g0006a0001c0001t0002g0008others(28): Show | 31 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.1297-11269delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | ||||||
| chrX:16650512
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1297-11269A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650512 | ||||||
| chrX:16650545
|
C | T | 1 | a0001c0002t0002g0211 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1297-11302G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650545 | ||||||
| chrX:16650547
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-11304G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650547 | ||||||
| chrX:16650556
|
A | G | 17 | a0001c0001t0002g0007a0001c0001t0002g0039a0001c0001t0002g0193others(14): Show | 17 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.1297-11313T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650556 | ||||||
| chrX:16650644
|
A | C | 43 | a0001c0001t0002g0007a0001c0001t0002g0023a0001c0001t0002g0028others(40): Show | 43 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.1297-11401T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650644 | ||||||
| chrX:16650997
|
A | G | 17 | a0001c0001t0002g0007a0001c0001t0002g0039a0001c0001t0002g0193others(14): Show | 17 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.1297-11754T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650997 | ||||||
| chrX:16651000
|
C | T | 26 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(23): Show | 26 | HG00280.hp1 HG00642.hp1 HG01168.hp2 others(23): Show |
intron_variant | MODIFIER | c.1297-11757G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651000 | ||||||
| chrX:16651235
|
G | A | 1 | a0001c0001t0001g0144 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1297-11992C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651235 | ||||||
| chrX:16651347
|
C | G | 1 | a0001c0001t0001g0055 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1297-12104G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651347 | ||||||
| chrX:16651378
|
A | G | 1 | a0001c0001t0005g0068 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1297-12135T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651378 | ||||||
| chrX:16651760
|
T | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-12517A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651760 | ||||||
| chrX:16651856
|
A | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-12613T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651856 | ||||||
| chrX:16651884
|
A | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-12641T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651884 | ||||||
| chrX:16651913
|
A | G | 12 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0003g0009others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1297-12670T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651913 | ||||||
| chrX:16652018
|
T | TG | 1 | a0001c0001t0001g0114 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1297-12776dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652018 | ||||||
| chrX:16652018
|
TG | T | 1 | a0001c0001t0001g0139 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1297-12776delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652018 | ||||||
| chrX:16652019
|
G | T | 5 | a0001c0001t0001g0128a0001c0001t0001g0132a0001c0001t0001g0133others(2): Show | 5 | HG01934.hp1 HG02083.hp1 NA18969.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-12776C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652019 | ||||||
| chrX:16652024
|
G | C | 19 | a0001c0001t0001g0130a0001c0001t0002g0012a0001c0001t0002g0131others(16): Show | 19 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.1297-12781C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652024 | ||||||
| chrX:16652045
|
C | T | 22 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0064others(19): Show | 22 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1297-12802G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652045 | ||||||
| chrX:16652204
|
A | AGT | 5 | a0001c0001t0001g0084a0001c0002t0002g0021a0001c0002t0002g0137others(2): Show | 5 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1297-12963_1297-12 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652204 | ||||||
| chrX:16652254
|
T | C | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1297-13011A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652254 | ||||||
| chrX:16652660
|
C | T | 1 | a0001c0001t0001g0220 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1297-13417G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652660 | ||||||
| chrX:16652745
|
GT | G | 3 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0002t0011g0074 | 3 | HG02451.hp2 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1297-13503delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652745 | ||||||
| chrX:16652840
|
C | T | 9 | a0001c0001t0001g0084a0001c0001t0002g0017a0001c0001t0002g0018others(6): Show | 9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1297-13597G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652840 | ||||||
| chrX:16652963
|
T | C | 2 | a0001c0001t0002g0161a0001c0001t0002g0199 | 2 | HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1297-13720A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652963 | ||||||
| chrX:16653107
|
T | C | 2 | a0001c0001t0007g0162a0001c0001t0007g0165 | 2 | HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1297-13864A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653107 | ||||||
| chrX:16653324
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1297-14081G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653324 | ||||||
| chrX:16653482
|
C | T | 9 | a0001c0001t0001g0084a0001c0001t0002g0017a0001c0001t0002g0018others(6): Show | 9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+14032G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653482 | ||||||
| chrX:16653675
|
TA | T | 8 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(5): Show | 8 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+13838delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653675 | ||||||
| chrX:16653677
|
T | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(5): Show | 8 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+13837A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653677 | ||||||
| chrX:16653805
|
G | A | 6 | a0001c0001t0002g0039a0001c0001t0002g0193a0001c0001t0002g0194others(3): Show | 6 | HG02572.hp1 HG02615.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296+13709C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653805 | ||||||
| chrX:16653868
|
G | C | 1 | a0001c0001t0002g0065 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1296+13646C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653868 | ||||||
| chrX:16653997
|
A | C | 2 | a0001c0001t0001g0152a0001c0001t0001g0154 | 2 | HG02056.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1296+13517T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653997 | ||||||
| chrX:16654135
|
G | A | 30 | a0001c0001t0002g0023a0001c0001t0002g0028a0001c0001t0002g0039others(27): Show | 30 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.1296+13379C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654135 | ||||||
| chrX:16654293
|
A | G | 12 | a0001c0001t0001g0084a0001c0001t0002g0008a0001c0001t0002g0017others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+13221T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654293 | ||||||
| chrX:16654511
|
G | A | 1 | a0001c0001t0001g0116 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1296+13003C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654511 | ||||||
| chrX:16654512
|
G | A | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1296+13002C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654512 | ||||||
| chrX:16654552
|
C | T | 4 | a0001c0001t0002g0023a0001c0001t0002g0125a0001c0001t0002g0169others(1): Show | 4 | HG02135.hp1 HG02165.hp2 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296+12962G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654552 | ||||||
| chrX:16654755
|
A | AAG | 42 | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0086others(39): Show | 42 | HG00438.hp2 HG00621.hp1 HG01928.hp1 others(39): Show |
intron_variant | MODIFIER | c.1296+12757_1296+12 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654755 | ||||||
| chrX:16654755
|
A | AAGAG | 10 | a0001c0001t0001g0084a0001c0001t0002g0008a0001c0001t0008g0178others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1296+12755_1296+12 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654755 | ||||||
| chrX:16654889
|
A | G | 3 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0184 | 3 | HG01928.hp1 HG01978.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.1296+12625T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654889 | ||||||
| chrX:16655155
|
G | C | 23 | a0001c0001t0001g0084a0001c0001t0002g0007a0001c0001t0002g0008others(20): Show | 23 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.1296+12359C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655155 | ||||||
| chrX:16655166
|
G | A | 11 | a0001c0001t0002g0007a0001c0001t0003g0009a0001c0001t0003g0140others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1296+12348C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655166 | ||||||
| chrX:16655176
|
A | G | 9 | a0001c0001t0001g0084a0001c0001t0002g0017a0001c0001t0002g0018others(6): Show | 9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+12338T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655176 | ||||||
| chrX:16655415
|
G | A | 12 | a0001c0001t0001g0084a0001c0001t0002g0008a0001c0001t0002g0017others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+12099C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655415 | ||||||
| chrX:16655489
|
G | T | 2 | a0001c0001t0001g0027a0001c0001t0001g0082 | 2 | HG00639.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.1296+12025C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655489 | ||||||
| chrX:16655490
|
G | T | 2 | a0001c0001t0001g0027a0001c0001t0001g0082 | 2 | HG00639.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.1296+12024C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655490 | ||||||
| chrX:16655544
|
G | A | 12 | a0001c0001t0001g0084a0001c0001t0002g0008a0001c0001t0002g0017others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+11970C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655544 | ||||||
| chrX:16655791
|
C | CT | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1296+11722dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655791 | ||||||
| chrX:16656234
|
G | GA | 30 | a0001c0001t0001g0130a0001c0001t0001g0210a0001c0001t0002g0006others(27): Show | 30 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.1296+11279dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656234 | ||||||
| chrX:16656284
|
A | G | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1296+11230T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656284 | ||||||
| chrX:16656288
|
G | T | 1 | a0001c0001t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1296+11226C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656288 | ||||||
| chrX:16656412
|
C | CT | 12 | a0001c0001t0002g0007a0001c0001t0002g0039a0001c0001t0003g0009others(9): Show | 12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1296+11101dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656412 | ||||||
| chrX:16656615
|
C | T | 2 | a0001c0001t0001g0089a0001c0001t0001g0090 | 2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1296+10899G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656615 | ||||||
| chrX:16656660
|
C | T | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1296+10854G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656660 | ||||||
| chrX:16656764
|
C | T | 2 | a0001c0001t0001g0095a0001c0001t0001g0159 | 2 | HG01168.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1296+10750G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656764 | ||||||
| chrX:16656796
|
G | A | 40 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(37): Show | 40 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.1296+10718C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656796 | ||||||
| chrX:16656873
|
G | GT | 29 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(26): Show | 29 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.1296+10640dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656873 | ||||||
| chrX:16657186
|
G | A | 1 | a0001c0002t0002g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1296+10328C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657186 | ||||||
| chrX:16657189
|
C | CT | 44 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0066others(41): Show | 44 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.1296+10324dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657189 | ||||||
| chrX:16657189
|
C | CTT | 2 | a0001c0001t0002g0122a0001c0001t0002g0193 | 2 | HG01261.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.1296+10323_1296+10 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657189 | ||||||
| chrX:16657189
|
CT | C | 8 | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0001t0001g0108others(5): Show | 8 | HG01070.hp2 HG01106.hp1 HG01516.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+10324delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657189 | ||||||
| chrX:16657318
|
T | C | 51 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0084others(48): Show | 51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+10196A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657318 | ||||||
| chrX:16657557
|
G | A | 2 | a0001c0001t0001g0095a0001c0001t0001g0159 | 2 | HG01168.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1296+9957C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657557 | ||||||
| chrX:16657840
|
G | A | 84 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0045others(81): Show | 84 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.1296+9674C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657840 | ||||||
| chrX:16657874
|
T | C | 29 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(26): Show | 29 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.1296+9640A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657874 | ||||||
| chrX:16658131
|
G | A | 1 | a0001c0001t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1296+9383C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658131 | ||||||
| chrX:16658141
|
G | A | 1 | a0001c0001t0002g0125 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1296+9373C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658141 | ||||||
| chrX:16658210
|
C | CA | 40 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(37): Show | 40 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.1296+9303dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658210 | ||||||
| chrX:16658210
|
CA | C | 2 | a0001c0001t0001g0090a0001c0001t0005g0051 | 2 | HG01258.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1296+9303delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658210 | ||||||
| chrX:16658241
|
C | CAAGAAAC others(2): Show |
2 | a0001c0001t0001g0027a0001c0001t0001g0150 | 2 | HG00639.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.1296+9264_1296+927 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658241 | ||||||
| chrX:16658412
|
T | C | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1296+9102A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658412 | ||||||
| chrX:16658441
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1296+9073G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658441 | ||||||
| chrX:16658520
|
C | A | 2 | a0001c0001t0002g0017a0001c0001t0002g0018 | 2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1296+8994G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658520 | ||||||
| chrX:16658871
|
A | T | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1296+8643T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658871 | ||||||
| chrX:16658951
|
T | C | 1 | a0001c0001t0001g0151 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1296+8563A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658951 | ||||||
| chrX:16658990
|
A | T | 2 | a0001c0001t0001g0059a0001c0001t0001g0129 | 2 | NA18943.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.1296+8524T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658990 | ||||||
| chrX:16659021
|
C | T | 2 | a0001c0001t0001g0216a0001c0001t0003g0214 | 2 | HG02280.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1296+8493G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659021 | ||||||
| chrX:16659035
|
G | A | 4 | a0001c0001t0001g0084a0001c0002t0002g0021a0001c0002t0002g0137others(1): Show | 4 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+8479C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659035 | ||||||
| chrX:16659345
|
A | T | 1 | a0001c0001t0002g0195 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296+8169T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659345 | ||||||
| chrX:16659347
|
G | C | 1 | a0001c0001t0002g0195 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296+8167C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659347 | ||||||
| chrX:16659349
|
A | ACT | 1 | a0001c0001t0002g0195 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296+8164_1296+816 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659349 | ||||||
| chrX:16659368
|
G | A | 4 | a0001c0001t0001g0084a0001c0002t0002g0021a0001c0002t0002g0137others(1): Show | 4 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+8146C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659368 | ||||||
| chrX:16659625
|
C | CA | 65 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0045others(62): Show | 65 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.1296+7888dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659625 | ||||||
| chrX:16659625
|
C | CAA | 20 | a0001c0001t0001g0084a0001c0001t0002g0007a0001c0001t0002g0017others(17): Show | 20 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.1296+7887_1296+788 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659625 | ||||||
| chrX:16659625
|
CA | C | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1296+7888delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659625 | ||||||
| chrX:16659643
|
T | C | 12 | a0001c0001t0001g0130a0001c0001t0001g0210a0001c0002t0002g0005others(9): Show | 12 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+7871A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659643 | ||||||
| chrX:16659997
|
C | T | 51 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0084others(48): Show | 51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+7517G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659997 | ||||||
| chrX:16660184
|
C | A | 1 | a0001c0001t0002g0069 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1296+7330G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660184 | ||||||
| chrX:16660207
|
T | TTTTC | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7303_1296+730 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660207 | ||||||
| chrX:16660270
|
G | C | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7244C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660270 | ||||||
| chrX:16660323
|
C | A | 3 | a0001c0002t0002g0211a0001c0002t0002g0212a0001c0002t0002g0215 | 3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1296+7191G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660323 | ||||||
| chrX:16660345
|
G | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7169C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660345 | ||||||
| chrX:16660427
|
C | CAG | 84 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0045others(81): Show | 84 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.1296+7085_1296+708 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660427 | ||||||
| chrX:16660435
|
C | T | 4 | a0001c0001t0002g0023a0001c0001t0002g0125a0001c0001t0002g0170others(1): Show | 4 | HG02165.hp2 HG02698.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+7079G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660435 | ||||||
| chrX:16660569
|
T | C | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1296+6945A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660569 | ||||||
| chrX:16660798
|
C | T | 2 | a0001c0001t0002g0006a0001c0001t0002g0076 | 2 | HG02559.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1296+6716G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660798 | ||||||
| chrX:16660961
|
A | AT | 5 | a0001c0001t0001g0085a0001c0001t0001g0171a0001c0001t0001g0220others(2): Show | 5 | HG02293.hp1 HG02738.hp1 NA18940.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296+6552dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660961 | ||||||
| chrX:16660961
|
AT | A | 12 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0030others(9): Show | 12 | HG00280.hp1 HG01168.hp2 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.1296+6552delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660961 | ||||||
| chrX:16661020
|
C | T | 3 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0118 | 3 | HG00642.hp1 HG01975.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1296+6494G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661020 | ||||||
| chrX:16661108
|
A | G | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6406T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661108 | ||||||
| chrX:16661324
|
A | G | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1296+6190T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661324 | ||||||
| chrX:16661443
|
T | G | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6071A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661443 | ||||||
| chrX:16661446
|
G | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6068C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661446 | ||||||
| chrX:16661738
|
A | G | 1 | a0001c0001t0001g0038 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1296+5776T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661738 | ||||||
| chrX:16661967
|
T | C | 1 | a0001c0001t0001g0079 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1296+5547A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661967 | ||||||
| chrX:16661993
|
C | CAT | 9 | a0001c0001t0001g0079a0001c0001t0001g0087a0001c0001t0001g0088others(6): Show | 9 | HG00642.hp1 HG01975.hp1 HG02015.hp1 others(6): Show |
intron_variant | MODIFIER | c.1296+5519_1296+552 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATAT | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1296+5517_1296+552 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(13): Show |
1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(15): Show |
1 | a0001c0001t0002g0006 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(26): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(17): Show |
2 | a0001c0002t0002g0124a0001c0002t0002g0135 | 2 | NA18991.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(28): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(19): Show |
7 | a0001c0001t0001g0070a0001c0002t0002g0031a0001c0002t0002g0100others(4): Show | 7 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(30): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(21): Show |
4 | a0001c0001t0001g0123a0001c0001t0001g0173a0001c0001t0001g0175others(1): Show | 4 | HG00438.hp1 HG01167.hp1 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(32): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(23): Show |
2 | a0001c0001t0001g0174a0001c0001t0001g0185 | 2 | HG00140.hp1 HG00621.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(34): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(25): Show |
2 | a0001c0001t0001g0002a0001c0002t0002g0188 | 2 | HG01516.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(36): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(27): Show |
3 | a0001c0001t0001g0186a0001c0001t0001g0191a0001c0002t0002g0005 | 3 | NA18945.hp1 NA19060.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(38): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(29): Show |
1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(40): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(33): Show |
2 | a0001c0001t0001g0130a0001c0003t0002g0136 | 2 | HG01106.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(44): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(35): Show |
2 | a0001c0001t0001g0167a0001c0001t0002g0127 | 2 | HG02818.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(3): Show |
3 | a0001c0001t0003g0009a0001c0001t0007g0162a0001c0001t0007g0165 | 3 | HG01070.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1296+5511_1296+552 others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(5): Show |
7 | a0001c0001t0002g0007a0001c0001t0003g0140a0001c0001t0003g0141others(4): Show | 7 | HG00733.hp2 HG01069.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+5509_1296+552 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
C | CATATATA others(7): Show |
1 | a0001c0001t0003g0176 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1296+5507_1296+552 others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661993
|
CAT | C | 12 | a0001c0001t0001g0084a0001c0001t0002g0008a0001c0001t0002g0017others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+5519_1296+552 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | ||||||
| chrX:16661999
|
T | TATAC | 1 | a0001c0001t0002g0076 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1296+5514_1296+551 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661999 | ||||||
| chrX:16662012
|
A | G | 28 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(25): Show | 28 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.1296+5502T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662012 | ||||||
| chrX:16662402
|
T | C | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+5112A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662402 | ||||||
| chrX:16662459
|
T | C | 1 | a0001c0001t0001g0182 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1296+5055A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662459 | ||||||
| chrX:16662526
|
G | C | 1 | a0001c0001t0002g0073 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1296+4988C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662526 | ||||||
| chrX:16662529
|
C | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+4985G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662529 | ||||||
| chrX:16662698
|
CT | C | 70 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0022others(67): Show | 70 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(67): Show |
intron_variant | MODIFIER | c.1296+4815delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662698 | ||||||
| chrX:16662698
|
CTT | C | 1 | a0001c0001t0003g0140 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1296+4814_1296+481 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662698 | ||||||
| chrX:16662734
|
G | A | 9 | a0001c0001t0001g0084a0001c0001t0002g0017a0001c0001t0002g0018others(6): Show | 9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+4780C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662734 | ||||||
| chrX:16662926
|
G | A | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+4588C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662926 | ||||||
| chrX:16662964
|
A | G | 3 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0219 | 3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+4550T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662964 | ||||||
| chrX:16662971
|
A | T | 51 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0084others(48): Show | 51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+4543T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662971 | ||||||
| chrX:16663171
|
A | G | 1 | a0001c0001t0005g0067 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1296+4343T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663171 | ||||||
| chrX:16663271
|
G | A | 2 | a0001c0001t0002g0006a0001c0001t0002g0076 | 2 | HG02559.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1296+4243C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663271 | ||||||
| chrX:16663339
|
G | A | 2 | a0001c0001t0002g0072a0001c0001t0002g0217 | 2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1296+4175C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663339 | ||||||
| chrX:16663406
|
A | C | 224 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(221): Show | 224 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(221): Show |
intron_variant | MODIFIER | c.1296+4108T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663406 | ||||||
| chrX:16663452
|
C | G | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1296+4062G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663452 | ||||||
| chrX:16663481
|
T | C | 37 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(34): Show | 37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4033A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663481 | ||||||
| chrX:16663501
|
T | C | 37 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(34): Show | 37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4013A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663501 | ||||||
| chrX:16663511
|
A | C | 37 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(34): Show | 37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4003T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663511 | ||||||
| chrX:16663645
|
C | T | 49 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0084others(46): Show | 49 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.1296+3869G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663645 | ||||||
| chrX:16663889
|
A | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0123others(41): Show | 44 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.1296+3625T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663889 | ||||||
| chrX:16663899
|
A | C | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1296+3615T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663899 | ||||||
| chrX:16663904
|
C | T | 9 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(6): Show | 9 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1296+3610G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663904 | ||||||
| chrX:16663960
|
C | T | 1 | a0001c0002t0002g0215 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1296+3554G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663960 | ||||||
| chrX:16663982
|
C | T | 2 | a0001c0001t0001g0142a0001c0001t0001g0158 | 2 | NA18965.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1296+3532G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663982 | ||||||
| chrX:16663983
|
G | C | 14 | a0001c0001t0001g0044a0001c0001t0001g0216a0001c0001t0002g0007others(11): Show | 14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1296+3531C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663983 | ||||||
| chrX:16663984
|
T | C | 13 | a0001c0001t0001g0044a0001c0001t0001g0216a0001c0001t0002g0007others(10): Show | 13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1296+3530A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663984 | ||||||
| chrX:16663985
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1296+3529C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663985 | ||||||
| chrX:16663992
|
C | T | 32 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0089others(29): Show | 32 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(29): Show |
intron_variant | MODIFIER | c.1296+3522G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663992 | ||||||
| chrX:16663996
|
C | T | 83 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0070others(80): Show | 83 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1296+3518G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663996 | ||||||
| chrX:16663997
|
A | G | 95 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0066others(92): Show | 95 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.1296+3517T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663997 | ||||||
| chrX:16664027
|
A | G | 39 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0089others(36): Show | 39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+3487T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664027 | ||||||
| chrX:16664028
|
A | G | 2 | a0001c0001t0002g0127a0001c0003t0002g0136 | 2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1296+3486T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664028 | ||||||
| chrX:16664029
|
A | G | 2 | a0001c0001t0002g0127a0001c0003t0002g0136 | 2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1296+3485T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664029 | ||||||
| chrX:16664038
|
A | G | 2 | a0001c0002t0002g0198a0001c0002t0002g0213 | 2 | HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1296+3476T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664038 | ||||||
| chrX:16664043
|
A | G | 5 | a0001c0001t0001g0207a0001c0001t0001g0216a0001c0001t0003g0214others(2): Show | 5 | HG02027.hp1 HG02280.hp2 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296+3471T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664043 | ||||||
| chrX:16664057
|
T | C | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1296+3457A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664057 | ||||||
| chrX:16664078
|
T | C | 22 | a0001c0001t0001g0066a0001c0001t0001g0160a0001c0001t0002g0064others(19): Show | 22 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1296+3436A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664078 | ||||||
| chrX:16664104
|
G | C | 20 | a0001c0001t0001g0110a0001c0001t0002g0049a0001c0001t0002g0065others(17): Show | 20 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1296+3410C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664104 | ||||||
| chrX:16664116
|
A | G | 1 | a0001c0001t0003g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1296+3398T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664116 | ||||||
| chrX:16664131
|
C | T | 1 | a0001c0001t0002g0065 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1296+3383G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664131 | ||||||
| chrX:16664168
|
A | C | 1 | a0001c0001t0002g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1296+3346T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664168 | ||||||
| chrX:16664294
|
C | T | 15 | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0001g0132others(12): Show | 15 | HG01934.hp1 HG01975.hp2 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.1296+3220G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664294 | ||||||
| chrX:16664480
|
G | A | 2 | a0001c0001t0002g0161a0001c0001t0002g0199 | 2 | HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1296+3034C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664480 | ||||||
| chrX:16664488
|
A | T | 1 | a0001c0001t0002g0134 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1296+3026T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664488 | ||||||
| chrX:16664511
|
G | A | 72 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0038others(69): Show | 72 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(69): Show |
intron_variant | MODIFIER | c.1296+3003C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664511 | ||||||
| chrX:16664539
|
T | C | 76 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0038others(73): Show | 76 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.1296+2975A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664539 | ||||||
| chrX:16664692
|
G | C | 6 | a0001c0001t0001g0084a0001c0002t0002g0021a0001c0002t0002g0075others(3): Show | 6 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1296+2822C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664692 | ||||||
| chrX:16665121
|
TC | T | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1296+2392delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665121 | ||||||
| chrX:16665337
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1296+2177C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665337 | ||||||
| chrX:16665648
|
G | A | 3 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0219 | 3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+1866C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665648 | ||||||
| chrX:16665803
|
T | A | 1 | a0001c0001t0001g0145 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1296+1711A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665803 | ||||||
| chrX:16665904
|
G | C | 69 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0020others(66): Show | 69 | HG00280.hp1 HG00609.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.1296+1610C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665904 | ||||||
| chrX:16666140
|
G | A | 7 | a0001c0001t0001g0081a0001c0001t0004g0024a0001c0001t0004g0025others(4): Show | 7 | HG02486.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+1374C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666140 | ||||||
| chrX:16666482
|
G | A | 3 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0219 | 3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+1032C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666482 | ||||||
| chrX:16666739
|
G | A | 65 | a0001c0001t0001g0016a0001c0001t0001g0066a0001c0001t0001g0070others(62): Show | 65 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.1296+775C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666739 | ||||||
| chrX:16667042
|
T | C | 11 | a0001c0001t0002g0007a0001c0001t0003g0009a0001c0001t0003g0140others(8): Show | 11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1296+472A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667042 | ||||||
| chrX:16667125
|
A | AC | 10 | a0001c0001t0001g0093a0001c0001t0001g0139a0001c0001t0001g0154others(7): Show | 10 | HG01261.hp1 HG01361.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.1296+388dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667125 | ||||||
| chrX:16667125
|
A | ACC | 3 | a0001c0001t0002g0008a0001c0001t0002g0121a0001c0001t0008g0178 | 3 | HG02145.hp1 HG03098.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1296+387_1296+388d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667125 | ||||||
| chrX:16667125
|
AC | A | 1 | a0001c0001t0001g0050 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1296+388delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667125 | ||||||
| chrX:16667134
|
C | G | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+380G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667134 | ||||||
| chrX:16667135
|
G | C | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+379C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667135 | ||||||
| chrX:16667137
|
C | CT | 47 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0022others(44): Show | 47 | HG00280.hp1 HG00609.hp1 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.1296+376dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | ||||||
| chrX:16667137
|
C | CTT | 1 | a0001c0001t0001g0119 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1296+375_1296+376d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | ||||||
| chrX:16667137
|
C | T | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+377G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | ||||||
| chrX:16667137
|
CT | C | 1 | a0001c0001t0001g0077 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1296+376delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | ||||||
| chrX:16667189
|
G | A | 1 | a0001c0001t0002g0076 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1296+325C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667189 | ||||||
| chrX:16667197
|
A | G | 1 | a0001c0001t0001g0115 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1296+317T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667197 | ||||||
| chrX:16667268
|
T | G | 107 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0038others(104): Show | 107 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.1296+246A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667268 | ||||||
| chrX:16667572
|
A | C | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1253-15T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 12/18 | chrX | 16667572 | ||||||
| chrX:16667630
|
A | C | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1252+32T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 12/18 | chrX | 16667630 | ||||||
| chrX:16668005
|
G | A | 3 | a0001c0002t0002g0211a0001c0002t0002g0212a0001c0002t0002g0215 | 3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1190-281C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668005 | ||||||
| chrX:16668144
|
C | G | 1 | a0001c0001t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1190-420G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668144 | ||||||
| chrX:16668176
|
T | C | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-452A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668176 | ||||||
| chrX:16668187
|
G | A | 9 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(6): Show | 9 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1190-463C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668187 | ||||||
| chrX:16668227
|
G | A | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-503C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668227 | ||||||
| chrX:16668356
|
C | T | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-632G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668356 | ||||||
| chrX:16668410
|
T | TA | 4 | a0001c0001t0001g0084a0001c0001t0001g0171a0001c0002t0002g0075others(1): Show | 4 | HG02258.hp1 HG02630.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1190-687dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668410 | ||||||
| chrX:16668410
|
T | TAA | 1 | a0001c0002t0002g0137 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1190-688_1190-687d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668410 | ||||||
| chrX:16668426
|
C | CA | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-703dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668426 | ||||||
| chrX:16668574
|
G | C | 38 | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0060others(35): Show | 38 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.1190-850C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668574 | ||||||
| chrX:16668618
|
GAGGGAAG others(9): Show |
G | 4 | a0001c0001t0001g0216a0001c0001t0002g0127a0001c0001t0003g0214others(1): Show | 4 | HG01106.hp1 HG02280.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1190-910_1190-895d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668618 | ||||||
| chrX:16668651
|
T | TGGAA | 2 | a0001c0001t0001g0160a0001c0001t0002g0120 | 2 | HG01361.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1190-931_1190-928d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668651 | ||||||
| chrX:16668651
|
TGGAA | T | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-931_1190-928d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668651 | ||||||
| chrX:16668715
|
G | C | 2 | a0001c0001t0001g0058a0001c0001t0001g0099 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1190-991C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668715 | ||||||
| chrX:16668770
|
A | AAAGG | 43 | a0001c0001t0001g0013a0001c0001t0001g0044a0001c0001t0001g0045others(40): Show | 43 | HG00438.hp2 HG00621.hp1 HG01928.hp1 others(40): Show |
intron_variant | MODIFIER | c.1190-1050_1190-104 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
A | AAAGGAAG others(1): Show |
19 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0016others(16): Show | 19 | HG00140.hp1 HG00438.hp1 HG01070.hp2 others(16): Show |
intron_variant | MODIFIER | c.1190-1054_1190-104 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
A | AAAGGAAG others(5): Show |
4 | a0001c0001t0001g0173a0001c0001t0001g0175a0001c0001t0002g0012others(1): Show | 4 | HG01167.hp1 HG01169.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1190-1058_1190-104 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
A | AAAGGAAG others(9): Show |
1 | a0001c0001t0001g0210 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1190-1062_1190-104 others(20): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
A | AAAGGAAG others(13): Show |
1 | a0001c0001t0001g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1190-1066_1190-104 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
AAAGG | A | 38 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0038others(35): Show | 38 | HG00639.hp1 HG00733.hp1 HG00733.hp2 others(35): Show |
intron_variant | MODIFIER | c.1190-1050_1190-104 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
AAAGGAAG others(1): Show |
A | 9 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0142others(6): Show | 9 | HG01168.hp1 HG01255.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1190-1054_1190-104 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16668770
|
AAAGGAAG others(5): Show |
A | 3 | a0001c0001t0002g0043a0001c0001t0002g0134a0001c0001t0002g0219 | 3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1190-1058_1190-104 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | ||||||
| chrX:16669096
|
G | T | 3 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204 | 3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-1372C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669096 | ||||||
| chrX:16669166
|
C | T | 13 | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0119others(10): Show | 13 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(10): Show |
intron_variant | MODIFIER | c.1189+1414G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669166 | ||||||
| chrX:16669179
|
C | T | 1 | a0001c0001t0005g0068 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1189+1401G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669179 | ||||||
| chrX:16669250
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1189+1330G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669250 | ||||||
| chrX:16669365
|
A | C | 1 | a0001c0002t0002g0211 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1189+1215T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669365 | ||||||
| chrX:16669425
|
T | TG | 6 | a0001c0001t0001g0092a0001c0001t0001g0106a0001c0001t0001g0123others(3): Show | 6 | HG00438.hp1 HG02738.hp1 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.1189+1154dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669425 | ||||||
| chrX:16669435
|
G | A | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1189+1145C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669435 | ||||||
| chrX:16669455
|
G | T | 12 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(9): Show | 12 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.1189+1125C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669455 | ||||||
| chrX:16669573
|
C | CA | 4 | a0001c0001t0001g0044a0001c0001t0001g0130a0001c0001t0001g0132others(1): Show | 4 | HG03453.hp1 NA18969.hp1 NA19057.hp2 others(1): Show |
intron_variant | MODIFIER | c.1189+1006dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669573 | ||||||
| chrX:16669573
|
CA | C | 29 | a0001c0001t0001g0066a0001c0001t0001g0070a0001c0001t0001g0081others(26): Show | 29 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1189+1006delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669573 | ||||||
| chrX:16669618
|
A | G | 5 | a0001c0001t0002g0008a0001c0001t0008g0178a0001c0001t0008g0204others(2): Show | 5 | HG02630.hp2 HG03098.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1189+962T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669618 | ||||||
| chrX:16669637
|
A | T | 1 | a0001c0001t0013g0117 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1189+943T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669637 | ||||||
| chrX:16669640
|
A | T | 1 | a0001c0001t0002g0125 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1189+940T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669640 | ||||||
| chrX:16669899
|
G | A | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1189+681C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669899 | ||||||
| chrX:16670059
|
T | TA | 131 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(128): Show | 131 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.1189+520dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670059 | ||||||
| chrX:16670059
|
T | TAA | 1 | a0001c0001t0001g0184 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1189+519_1189+520d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670059 | ||||||
| chrX:16670071
|
A | AAC | 1 | a0001c0001t0002g0008 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1189+507_1189+508d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670071 | ||||||
| chrX:16670305
|
C | T | 1 | a0001c0001t0005g0051 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1189+275G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670305 | ||||||
| chrX:16670343
|
G | A | 41 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(38): Show | 41 | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.1189+237C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670343 | ||||||
| chrX:16670429
|
T | C | 3 | a0001c0001t0002g0006a0001c0001t0002g0076a0001c0002t0002g0137 | 3 | HG02559.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1189+151A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670429 | ||||||
| chrX:16670687
|
C | CA | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-14dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670687 | ||||||
| chrX:16670694
|
A | AG | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-21dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670694 | ||||||
| chrX:16670713
|
A | AT | 11 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(8): Show | 11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-40dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670713 | ||||||
| chrX:16670979
|
A | G | 36 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(33): Show | 36 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.1095-305T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670979 | ||||||
| chrX:16671016
|
TA | T | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-343delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671016 | ||||||
| chrX:16671169
|
G | GA | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-496dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671169 | ||||||
| chrX:16671324
|
T | TC | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-651dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671324 | ||||||
| chrX:16671505
|
C | CT | 13 | a0001c0001t0001g0058a0001c0001t0001g0116a0001c0001t0001g0118others(10): Show | 13 | HG00438.hp2 HG00642.hp1 HG00738.hp1 others(10): Show |
intron_variant | MODIFIER | c.1095-832dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | ||||||
| chrX:16671505
|
CT | C | 52 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0038others(49): Show | 52 | HG00140.hp1 HG00609.hp1 HG00733.hp2 others(49): Show |
intron_variant | MODIFIER | c.1095-832delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | ||||||
| chrX:16671505
|
CTT | C | 45 | a0001c0001t0001g0002a0001c0001t0001g0060a0001c0001t0001g0077others(42): Show | 45 | HG00621.hp1 HG01070.hp1 HG01167.hp1 others(42): Show |
intron_variant | MODIFIER | c.1095-833_1095-832d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | ||||||
| chrX:16671505
|
CTTTTTTT | C | 35 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(32): Show | 35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-838_1095-832d others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | ||||||
| chrX:16671564
|
G | T | 36 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(33): Show | 36 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.1095-890C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671564 | ||||||
| chrX:16671574
|
G | GC | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-901dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671574 | ||||||
| chrX:16671668
|
C | A | 24 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(21): Show | 24 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.1095-994G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671668 | ||||||
| chrX:16671818
|
A | G | 1 | a0001c0001t0002g0192 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1095-1144T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671818 | ||||||
| chrX:16671885
|
G | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(129): Show | 132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.1095-1211C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671885 | ||||||
| chrX:16671899
|
AT | A | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-1226delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671899 | ||||||
| chrX:16672393
|
TC | T | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-1720delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672393 | ||||||
| chrX:16672404
|
C | CT | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-1731dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672404 | ||||||
| chrX:16672456
|
GT | G | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-1783delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672456 | ||||||
| chrX:16672511
|
T | TG | 1 | a0001c0002t0002g0003 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1095-1838dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672511 | ||||||
| chrX:16672742
|
G | A | 2 | a0001c0001t0002g0017a0001c0001t0002g0018 | 2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1095-2068C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672742 | ||||||
| chrX:16672781
|
CCT | C | 1 | a0001c0001t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1095-2109_1095-210 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672781 | ||||||
| chrX:16672781
|
CCTCT | C | 1 | a0001c0001t0002g0072 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1095-2111_1095-210 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672781 | ||||||
| chrX:16672881
|
C | CT | 16 | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0145others(13): Show | 16 | HG00621.hp1 HG01168.hp2 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.1095-2208dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
C | CTT | 20 | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0030others(17): Show | 20 | HG00280.hp1 HG00639.hp1 HG01169.hp1 others(17): Show |
intron_variant | MODIFIER | c.1095-2209_1095-220 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
C | CTTT | 13 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0036others(10): Show | 13 | HG01070.hp2 HG01099.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1095-2210_1095-220 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
C | CTTTT | 4 | a0001c0001t0002g0010a0001c0001t0002g0127a0001c0001t0015g0226others(1): Show | 4 | HG01106.hp1 HG02818.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-2211_1095-220 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1095-2215_1095-220 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
CT | C | 9 | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0048others(6): Show | 9 | HG02523.hp1 HG02683.hp1 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.1095-2208delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
CTTT | C | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1095-2210_1095-220 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
CTTTT | C | 2 | a0001c0001t0001g0084a0001c0001t0002g0043 | 2 | HG02258.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1095-2211_1095-220 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672881
|
CTTTTTTT others(3): Show |
C | 2 | a0001c0002t0002g0075a0001c0002t0002g0218 | 2 | HG02630.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1095-2217_1095-220 others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | ||||||
| chrX:16672918
|
G | A | 1 | a0001c0001t0015g0226 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1095-2244C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672918 | ||||||
| chrX:16672925
|
C | T | 35 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(32): Show | 35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2251G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672925 | ||||||
| chrX:16672947
|
CG | C | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-2274delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672947 | ||||||
| chrX:16672977
|
C | T | 35 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(32): Show | 35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2303G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672977 | ||||||
| chrX:16672987
|
T | C | 35 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(32): Show | 35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2313A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672987 | ||||||
| chrX:16673041
|
T | C | 38 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0066others(35): Show | 38 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.1095-2367A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673041 | ||||||
| chrX:16673047
|
C | G | 38 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0066others(35): Show | 38 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.1095-2373G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673047 | ||||||
| chrX:16673076
|
C | T | 1 | a0001c0001t0001g0160 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1095-2402G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673076 | ||||||
| chrX:16673088
|
G | A | 11 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(8): Show | 11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-2414C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673088 | ||||||
| chrX:16673096
|
C | T | 1 | a0001c0001t0001g0185 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1095-2422G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673096 | ||||||
| chrX:16673100
|
A | T | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1095-2426T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673100 | ||||||
| chrX:16673161
|
C | T | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1095-2487G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673161 | ||||||
| chrX:16673167
|
T | G | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1095-2493A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673167 | ||||||
| chrX:16673352
|
CTG | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0080a0001c0001t0001g0082others(1): Show | 4 | HG00639.hp1 HG01099.hp1 NA19006.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-2680_1095-267 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673352 | ||||||
| chrX:16673357
|
GAAAAACT others(30): Show |
G | 4 | a0001c0001t0001g0027a0001c0001t0001g0080a0001c0001t0001g0082others(1): Show | 4 | HG00639.hp1 HG01099.hp1 NA19006.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-2720_1095-268 others(41): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673357 | ||||||
| chrX:16673432
|
C | T | 34 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(31): Show | 34 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(31): Show |
intron_variant | MODIFIER | c.1095-2758G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673432 | ||||||
| chrX:16673570
|
T | A | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1095-2896A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673570 | ||||||
| chrX:16673584
|
T | TA | 6 | a0001c0001t0001g0048a0001c0001t0001g0154a0001c0001t0002g0006others(3): Show | 6 | HG02559.hp1 HG02886.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.1095-2911dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673584 | ||||||
| chrX:16673584
|
TA | T | 14 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0001g0129others(11): Show | 14 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.1095-2911delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673584 | ||||||
| chrX:16673622
|
G | C | 11 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(8): Show | 11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-2948C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673622 | ||||||
| chrX:16673753
|
G | C | 11 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(8): Show | 11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-3079C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673753 | ||||||
| chrX:16673945
|
G | A | 29 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(26): Show | 29 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.1095-3271C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673945 | ||||||
| chrX:16673995
|
TA | T | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-3322delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673995 | ||||||
| chrX:16674112
|
TG | T | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-3439delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674112 | ||||||
| chrX:16674115
|
A | AT | 4 | a0001c0001t0001g0115a0001c0001t0001g0145a0001c0002t0002g0003others(1): Show | 4 | HG03471.hp1 NA18984.hp1 NA18985.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-3442dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674115
|
A | ATT | 88 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(85): Show | 88 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.1095-3443_1095-344 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674115
|
A | ATTT | 8 | a0001c0001t0001g0130a0001c0001t0001g0216a0001c0001t0002g0040others(5): Show | 8 | HG01261.hp1 HG02004.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1095-3444_1095-344 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674115
|
A | ATTTT | 8 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1095-3445_1095-344 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674115
|
A | ATTTTT | 3 | a0001c0001t0001g0084a0001c0001t0002g0043a0001c0001t0002g0219 | 3 | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1095-3446_1095-344 others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674115
|
A | ATTTTTT | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1095-3447_1095-344 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | ||||||
| chrX:16674203
|
G | GC | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1095-3530dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674203 | ||||||
| chrX:16674274
|
C | T | 1 | a0001c0001t0001g0055 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1095-3600G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674274 | ||||||
| chrX:16674453
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1095-3779C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674453 | ||||||
| chrX:16674499
|
A | T | 3 | a0001c0001t0001g0084a0001c0001t0002g0043a0001c0001t0002g0219 | 3 | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1095-3825T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674499 | ||||||
| chrX:16674565
|
A | G | 1 | a0001c0002t0002g0124 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1094+3797T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674565 | ||||||
| chrX:16674577
|
A | G | 4 | a0001c0001t0002g0007a0001c0001t0002g0012a0001c0001t0004g0037others(1): Show | 4 | HG02615.hp2 HG02886.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1094+3785T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674577 | ||||||
| chrX:16674605
|
A | G | 8 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1094+3757T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674605 | ||||||
| chrX:16674609
|
T | C | 143 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(140): Show | 143 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.1094+3753A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674609 | ||||||
| chrX:16674613
|
C | T | 8 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(5): Show | 8 | HG01070.hp2 HG02055.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1094+3749G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674613 | ||||||
| chrX:16674614
|
A | G | 143 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(140): Show | 143 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.1094+3748T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674614 | ||||||
| chrX:16674620
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(28): Show | 31 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1094+3742G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674620 | ||||||
| chrX:16674621
|
G | A | 4 | a0001c0001t0001g0084a0001c0001t0002g0012a0001c0001t0002g0043others(1): Show | 4 | HG02258.hp1 HG02615.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1094+3741C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674621 | ||||||
| chrX:16674634
|
C | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+3728G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674634 | ||||||
| chrX:16674639
|
C | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+3723G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674639 | ||||||
| chrX:16674642
|
T | G | 1 | a0001c0001t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1094+3720A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674642 | ||||||
| chrX:16674649
|
T | C | 2 | a0001c0001t0001g0123a0001c0001t0002g0007 | 2 | HG00438.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1094+3713A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674649 | ||||||
| chrX:16674654
|
C | T | 2 | a0001c0001t0001g0123a0001c0001t0001g0151 | 2 | HG00438.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1094+3708G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674654 | ||||||
| chrX:16674699
|
G | A | 1 | a0001c0001t0004g0033 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1094+3663C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674699 | ||||||
| chrX:16674700
|
T | A | 1 | a0001c0001t0001g0138 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1094+3662A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674700 | ||||||
| chrX:16674707
|
A | G | 5 | a0001c0001t0001g0084a0001c0001t0001g0207a0001c0001t0002g0012others(2): Show | 5 | HG02027.hp1 HG02258.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1094+3655T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674707 | ||||||
| chrX:16674731
|
G | A | 3 | a0001c0001t0001g0084a0001c0001t0002g0043a0001c0001t0002g0219 | 3 | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3631C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674731 | ||||||
| chrX:16674753
|
A | G | 5 | a0001c0001t0001g0084a0001c0001t0001g0138a0001c0001t0001g0185others(2): Show | 5 | HG00621.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+3609T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674753 | ||||||
| chrX:16674755
|
A | G | 2 | a0001c0001t0001g0138a0001c0001t0001g0185 | 2 | HG00621.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1094+3607T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674755 | ||||||
| chrX:16674763
|
A | G | 5 | a0001c0001t0001g0084a0001c0001t0001g0185a0001c0001t0002g0043others(2): Show | 5 | HG00621.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+3599T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674763 | ||||||
| chrX:16674770
|
A | G | 2 | a0001c0001t0001g0138a0001c0001t0001g0185 | 2 | HG00621.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1094+3592T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674770 | ||||||
| chrX:16674786
|
A | C | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3576T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674786 | ||||||
| chrX:16674792
|
T | C | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3570A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674792 | ||||||
| chrX:16674798
|
A | G | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3564T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674798 | ||||||
| chrX:16674837
|
C | CA | 9 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(6): Show | 9 | HG01070.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1094+3524dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674837 | ||||||
| chrX:16674837
|
C | CAA | 2 | a0001c0001t0002g0012a0001c0001t0002g0192 | 2 | HG02055.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1094+3523_1094+352 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674837 | ||||||
| chrX:16674837
|
CA | C | 2 | a0001c0001t0001g0083a0001c0001t0002g0069 | 2 | HG02004.hp2 NA18956.hp1 |
intron_variant | MODIFIER | c.1094+3524delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674837 | ||||||
| chrX:16675064
|
G | A | 11 | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0002g0010others(8): Show | 11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1094+3298C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675064 | ||||||
| chrX:16675137
|
G | A | 1 | a0001c0001t0001g0029 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1094+3225C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675137 | ||||||
| chrX:16675155
|
C | G | 1 | a0001c0001t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1094+3207G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675155 | ||||||
| chrX:16675269
|
C | CA | 94 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0066others(91): Show | 94 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.1094+3092dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675269 | ||||||
| chrX:16675269
|
C | CAA | 4 | a0001c0001t0001g0184a0001c0001t0002g0122a0001c0002t0002g0021others(1): Show | 4 | HG01109.hp1 HG01261.hp1 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.1094+3091_1094+309 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675269 | ||||||
| chrX:16675269
|
CA | C | 1 | a0001c0001t0002g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1094+3092delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675269 | ||||||
| chrX:16675321
|
AC | A | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3040delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675321 | ||||||
| chrX:16675324
|
T | A | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3038A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675324 | ||||||
| chrX:16675327
|
T | A | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3035A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675327 | ||||||
| chrX:16675362
|
GT | G | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+2999delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675362 | ||||||
| chrX:16675562
|
G | A | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1094+2800C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675562 | ||||||
| chrX:16675717
|
T | TA | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+2644dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675717 | ||||||
| chrX:16675765
|
T | C | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+2597A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675765 | ||||||
| chrX:16676167
|
G | A | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1094+2195C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676167 | ||||||
| chrX:16676292
|
C | T | 2 | a0001c0002t0002g0075a0001c0002t0002g0218 | 2 | HG02630.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1094+2070G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676292 | ||||||
| chrX:16676493
|
AT | A | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+1868delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676493 | ||||||
| chrX:16676703
|
C | A | 129 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(126): Show | 129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.1094+1659G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676703 | ||||||
| chrX:16676763
|
GA | G | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+1598delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676763 | ||||||
| chrX:16676788
|
G | A | 1 | a0001c0001t0002g0076 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1094+1574C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676788 | ||||||
| chrX:16677060
|
G | GA | 5 | a0001c0001t0001g0060a0001c0001t0001g0110a0001c0001t0001g0142others(2): Show | 5 | HG01361.hp2 HG02683.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+1301dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677060 | ||||||
| chrX:16677060
|
GA | G | 128 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(125): Show | 128 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(125): Show |
intron_variant | MODIFIER | c.1094+1301delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677060 | ||||||
| chrX:16677106
|
G | A | 1 | a0001c0002t0002g0215 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1094+1256C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677106 | ||||||
| chrX:16677296
|
G | GT | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+1065dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677296 | ||||||
| chrX:16677380
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(29): Show | 32 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1094+982G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677380 | ||||||
| chrX:16677444
|
GC | G | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+917delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677444 | ||||||
| chrX:16677448
|
CT | C | 2 | a0001c0001t0002g0043a0001c0001t0002g0219 | 2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+913delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677448 | ||||||
| chrX:16677479
|
A | AG | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+882dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677479 | ||||||
| chrX:16677882
|
G | A | 141 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(138): Show | 141 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(138): Show |
intron_variant | MODIFIER | c.1094+480C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677882 | ||||||
| chrX:16677918
|
GC | G | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1094+443delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677918 | ||||||
| chrX:16677994
|
G | T | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.1094+368C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677994 | ||||||
| chrX:16678533
|
A | AT | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1006-84dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678533 | ||||||
| chrX:16678717
|
G | T | 2 | a0001c0001t0002g0069a0001c0001t0002g0122 | 2 | HG01261.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.1006-267C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678717 | ||||||
| chrX:16678787
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-337T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678787 | ||||||
| chrX:16678866
|
CA | C | 1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1006-417delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678866 | ||||||
| chrX:16679060
|
T | C | 130 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(127): Show | 130 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.1006-610A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679060 | ||||||
| chrX:16679173
|
C | T | 1 | a0001c0001t0001g0062 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1006-723G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679173 | ||||||
| chrX:16679250
|
C | T | 3 | a0001c0001t0001g0182a0001c0001t0001g0202a0001c0001t0001g0205 | 3 | HG01243.hp1 HG02886.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1006-800G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679250 | ||||||
| chrX:16679338
|
A | C | 7 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(4): Show | 7 | HG01070.hp2 HG02055.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1006-888T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679338 | ||||||
| chrX:16679386
|
A | T | 96 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(93): Show | 96 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.1006-936T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679386 | ||||||
| chrX:16679629
|
C | T | 2 | a0001c0002t0002g0005a0001c0002t0002g0078 | 2 | NA18975.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.1006-1179G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679629 | ||||||
| chrX:16679684
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1234T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679684 | ||||||
| chrX:16679706
|
A | C | 97 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(94): Show | 97 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.1006-1256T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679706 | ||||||
| chrX:16679714
|
C | T | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1264G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679714 | ||||||
| chrX:16679753
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1006-1303G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679753 | ||||||
| chrX:16679754
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1006-1304C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679754 | ||||||
| chrX:16679967
|
C | T | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1517G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679967 | ||||||
| chrX:16680230
|
C | T | 1 | a0001c0001t0002g0040 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1006-1780G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680230 | ||||||
| chrX:16680244
|
G | C | 1 | a0001c0001t0002g0040 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1006-1794C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680244 | ||||||
| chrX:16680343
|
A | G | 1 | a0001c0001t0001g0029 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1006-1893T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680343 | ||||||
| chrX:16680542
|
G | A | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-2092C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680542 | ||||||
| chrX:16680554
|
C | CA | 3 | a0001c0001t0001g0055a0001c0001t0001g0060a0001c0002t0002g0100 | 3 | NA18952.hp1 NA18977.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.1006-2105dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680554 | ||||||
| chrX:16680554
|
CA | C | 2 | a0001c0001t0001g0063a0001c0001t0002g0219 | 2 | HG03225.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.1006-2105delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680554 | ||||||
| chrX:16680585
|
GA | G | 1 | a0001c0001t0001g0182 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1006-2136delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680585 | ||||||
| chrX:16680700
|
C | T | 1 | a0001c0001t0002g0126 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1006-2250G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680700 | ||||||
| chrX:16680711
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-2261T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680711 | ||||||
| chrX:16680923
|
C | T | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1005+2171G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680923 | ||||||
| chrX:16681130
|
G | A | 4 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0076others(1): Show | 4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1005+1964C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681130 | ||||||
| chrX:16681427
|
T | C | 38 | a0001c0001t0001g0063a0001c0001t0001g0087a0001c0001t0001g0088others(35): Show | 38 | HG00438.hp2 HG00642.hp1 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.1005+1667A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681427 | ||||||
| chrX:16681690
|
C | T | 1 | a0001c0001t0001g0106 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1005+1404G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681690 | ||||||
| chrX:16681861
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+1233T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681861 | ||||||
| chrX:16681964
|
C | T | 4 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0076others(1): Show | 4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1005+1130G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681964 | ||||||
| chrX:16682005
|
T | A | 130 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(127): Show | 130 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.1005+1089A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682005 | ||||||
| chrX:16682102
|
C | T | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+992G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682102 | ||||||
| chrX:16682211
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+883T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682211 | ||||||
| chrX:16682426
|
G | A | 1 | a0001c0001t0002g0193 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1005+668C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682426 | ||||||
| chrX:16682449
|
C | A | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1005+645G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682449 | ||||||
| chrX:16682452
|
A | T | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+642T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682452 | ||||||
| chrX:16682456
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+638T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682456 | ||||||
| chrX:16682465
|
G | A | 24 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(21): Show | 24 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.1005+629C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682465 | ||||||
| chrX:16682560
|
A | C | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+534T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682560 | ||||||
| chrX:16682906
|
C | G | 2 | a0001c0001t0002g0065a0001c0001t0002g0121 | 2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1005+188G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682906 | ||||||
| chrX:16682969
|
GTTC | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+122_1005+124d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682969 | ||||||
| chrX:16683421
|
GACCCCGT others(6): Show |
G | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-208_873-196del others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683421 | ||||||
| chrX:16683530
|
C | T | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.873-304G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683530 | ||||||
| chrX:16683642
|
A | G | 130 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(127): Show | 130 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.873-416T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683642 | ||||||
| chrX:16683765
|
T | TA | 2 | a0001c0001t0001g0105a0002c0004t0001g0201 | 2 | NA19072.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.873-540dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683765 | ||||||
| chrX:16683863
|
A | AC | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-638_873-637ins others(1): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683863 | ||||||
| chrX:16684005
|
G | A | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.873-779C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684005 | ||||||
| chrX:16684166
|
CT | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-941delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684166 | ||||||
| chrX:16684374
|
T | TG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-1149dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684374 | ||||||
| chrX:16684504
|
G | A | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.873-1278C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684504 | ||||||
| chrX:16684509
|
C | CA | 45 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0020others(42): Show | 45 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.873-1284dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684509 | ||||||
| chrX:16684509
|
C | CAA | 7 | a0001c0001t0001g0058a0001c0001t0001g0081a0001c0001t0001g0158others(4): Show | 7 | HG00738.hp1 HG02293.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-1285_873-1284d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684509 | ||||||
| chrX:16684509
|
CA | C | 1 | a0001c0001t0003g0141 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.873-1284delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684509 | ||||||
| chrX:16684523
|
A | AAC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-1298_873-1297i others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684523 | ||||||
| chrX:16684523
|
A | C | 95 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(92): Show | 95 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.873-1297T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684523 | ||||||
| chrX:16684529
|
C | A | 4 | a0001c0001t0001g0171a0001c0001t0002g0039a0001c0001t0002g0170others(1): Show | 4 | HG03195.hp2 NA18969.hp2 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.873-1303G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684529 | ||||||
| chrX:16684574
|
A | T | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.873-1348T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684574 | ||||||
| chrX:16684609
|
A | C | 96 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(93): Show | 96 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.873-1383T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684609 | ||||||
| chrX:16684685
|
T | TA | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-1460dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684685 | ||||||
| chrX:16684787
|
T | TC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-1562dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684787 | ||||||
| chrX:16684817
|
G | A | 1 | a0001c0001t0001g0020 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.873-1591C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684817 | ||||||
| chrX:16684861
|
C | CCGGCAGA others(28): Show |
1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-1670_873-1636d others(37): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684861 | ||||||
| chrX:16684909
|
G | A | 1 | a0001c0001t0001g0079 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.873-1683C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684909 | ||||||
| chrX:16685109
|
C | T | 1 | a0001c0002t0002g0218 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.873-1883G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685109 | ||||||
| chrX:16685292
|
T | G | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.873-2066A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685292 | ||||||
| chrX:16685350
|
T | TGGTA | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-2128_873-2125d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685350 | ||||||
| chrX:16685410
|
G | A | 1 | a0001c0002t0002g0223 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.873-2184C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685410 | ||||||
| chrX:16685417
|
C | T | 1 | a0001c0002t0002g0148 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.873-2191G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685417 | ||||||
| chrX:16685468
|
C | T | 1 | a0001c0001t0001g0060 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.873-2242G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685468 | ||||||
| chrX:16685575
|
AG | A | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-2350delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685575 | ||||||
| chrX:16685576
|
G | A | 1 | a0001c0001t0005g0068 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.873-2350C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685576 | ||||||
| chrX:16685596
|
T | C | 104 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0016others(101): Show | 104 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.873-2370A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685596 | ||||||
| chrX:16685640
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.873-2414G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685640 | ||||||
| chrX:16685674
|
T | C | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.873-2448A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685674 | ||||||
| chrX:16685704
|
CA | C | 1 | a0001c0001t0001g0119 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.873-2479delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685704 | ||||||
| chrX:16685723
|
CG | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-2498delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685723 | ||||||
| chrX:16685735
|
T | C | 1 | a0001c0001t0001g0030 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.873-2509A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685735 | ||||||
| chrX:16685736
|
G | A | 4 | a0001c0001t0001g0030a0001c0001t0001g0107a0001c0001t0001g0108others(1): Show | 4 | HG01358.hp1 NA18962.hp1 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.873-2510C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685736 | ||||||
| chrX:16685774
|
G | T | 7 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(4): Show | 7 | HG01070.hp2 HG02055.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-2548C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685774 | ||||||
| chrX:16685784
|
A | G | 1 | a0001c0001t0001g0014 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.873-2558T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685784 | ||||||
| chrX:16685837
|
A | G | 1 | a0001c0001t0001g0133 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.873-2611T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685837 | ||||||
| chrX:16685867
|
C | CA | 17 | a0001c0001t0001g0002a0001c0001t0001g0046a0001c0001t0001g0063others(14): Show | 17 | HG01516.hp1 HG01928.hp1 HG02004.hp1 others(14): Show |
intron_variant | MODIFIER | c.873-2642dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | ||||||
| chrX:16685867
|
C | CAA | 1 | a0001c0001t0002g0194 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.873-2643_873-2642d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | ||||||
| chrX:16685867
|
CA | C | 7 | a0001c0001t0001g0077a0001c0001t0001g0156a0001c0001t0001g0159others(4): Show | 7 | HG01168.hp1 HG02818.hp2 NA18982.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-2642delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | ||||||
| chrX:16685867
|
CAA | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-2643_873-2642d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | ||||||
| chrX:16685980
|
C | T | 8 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(5): Show | 8 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.873-2754G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685980 | ||||||
| chrX:16686153
|
C | CG | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.873-2928_873-2927i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686153 | ||||||
| chrX:16686263
|
G | C | 5 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(2): Show | 5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.873-3037C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686263 | ||||||
| chrX:16686366
|
AC | A | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.872+3083delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686366 | ||||||
| chrX:16686384
|
TA | T | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.872+3065delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686384 | ||||||
| chrX:16686412
|
GC | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.872+3037delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686412 | ||||||
| chrX:16686455
|
C | A | 1 | a0001c0002t0002g0137 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.872+2995G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686455 | ||||||
| chrX:16686749
|
CA | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.872+2700delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686749 | ||||||
| chrX:16686778
|
C | T | 1 | a0001c0001t0005g0051 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.872+2672G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686778 | ||||||
| chrX:16686903
|
C | CA | 3 | a0001c0001t0001g0110a0001c0001t0001g0139a0001c0001t0002g0012 | 3 | HG01361.hp2 HG02615.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.872+2546dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686903 | ||||||
| chrX:16686903
|
CA | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.872+2546delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686903 | ||||||
| chrX:16686913
|
A | T | 10 | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0001g0098others(7): Show | 10 | HG01346.hp1 NA18940.hp1 NA18959.hp1 others(7): Show |
intron_variant | MODIFIER | c.872+2537T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686913 | ||||||
| chrX:16687474
|
C | CA | 100 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0016others(97): Show | 100 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(97): Show |
intron_variant | MODIFIER | c.872+1975dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687474 | ||||||
| chrX:16687474
|
C | CAA | 2 | a0001c0001t0001g0180a0001c0001t0002g0065 | 2 | HG01928.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.872+1974_872+1975d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687474 | ||||||
| chrX:16687474
|
CA | C | 5 | a0001c0001t0001g0022a0001c0001t0001g0156a0001c0001t0002g0006others(2): Show | 5 | HG01168.hp2 HG02040.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.872+1975delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687474 | ||||||
| chrX:16687491
|
A | G | 3 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0002t0011g0074 | 3 | HG02451.hp2 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.872+1959T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687491 | ||||||
| chrX:16687562
|
G | T | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.872+1888C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687562 | ||||||
| chrX:16687727
|
T | C | 2 | a0001c0001t0004g0032a0001c0001t0004g0033 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.872+1723A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687727 | ||||||
| chrX:16688065
|
C | T | 2 | a0001c0001t0008g0178a0001c0001t0008g0204 | 2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.872+1385G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688065 | ||||||
| chrX:16688103
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.872+1347A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688103 | ||||||
| chrX:16688103
|
TA | T | 1 | a0001c0001t0002g0170 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.872+1346delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688103 | ||||||
| chrX:16688145
|
C | T | 1 | a0001c0001t0005g0068 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.872+1305G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688145 | ||||||
| chrX:16688227
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.872+1223G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688227 | ||||||
| chrX:16688272
|
C | T | 3 | a0001c0001t0001g0182a0001c0001t0001g0202a0001c0001t0001g0205 | 3 | HG01243.hp1 HG02886.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.872+1178G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688272 | ||||||
| chrX:16688378
|
C | T | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.872+1072G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688378 | ||||||
| chrX:16688379
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.872+1071C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688379 | ||||||
| chrX:16688399
|
C | CA | 5 | a0001c0001t0001g0002a0001c0001t0001g0173a0001c0001t0001g0174others(2): Show | 5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+1050dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688399 | ||||||
| chrX:16688437
|
C | CT | 46 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0020others(43): Show | 46 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(43): Show |
intron_variant | MODIFIER | c.872+1012dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688437 | ||||||
| chrX:16688437
|
CT | C | 3 | a0001c0001t0001g0045a0001c0001t0002g0170a0001c0001t0003g0141 | 3 | HG02735.hp1 HG02895.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.872+1012delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688437 | ||||||
| chrX:16688627
|
G | A | 5 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(2): Show | 5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+823C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688627 | ||||||
| chrX:16688720
|
CA | C | 1 | a0001c0001t0002g0170 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.872+729delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688720 | ||||||
| chrX:16688765
|
G | GCAAAA | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.872+680_872+684dup others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688765 | ||||||
| chrX:16688909
|
CAT | C | 5 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(2): Show | 5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+539_872+540del others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688909 | ||||||
| chrX:16688930
|
CA | C | 1 | a0001c0001t0002g0170 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.872+519delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688930 | ||||||
| chrX:16688938
|
A | AT | 11 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194others(8): Show | 11 | HG01109.hp1 HG02055.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.872+511_872+512ins others(1): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688938 | ||||||
| chrX:16688938
|
A | T | 1 | a0001c0001t0002g0065 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.872+512T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688938 | ||||||
| chrX:16688940
|
A | AT | 1 | a0001c0001t0001g0080 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.872+509_872+510ins others(1): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688940 | ||||||
| chrX:16688940
|
A | T | 94 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0038others(91): Show | 94 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.872+510T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688940 | ||||||
| chrX:16688942
|
A | T | 140 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(137): Show | 140 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(137): Show |
intron_variant | MODIFIER | c.872+508T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688942 | ||||||
| chrX:16689117
|
CA | C | 3 | a0001c0001t0001g0095a0001c0001t0001g0159a0001c0001t0001g0167 | 3 | HG01168.hp1 HG01255.hp1 NA18975.hp1 |
intron_variant | MODIFIER | c.872+332delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689117 | ||||||
| chrX:16689154
|
A | C | 1 | a0001c0001t0002g0064 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.872+296T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689154 | ||||||
| chrX:16689267
|
C | T | 1 | a0001c0001t0001g0119 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.872+183G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689267 | ||||||
| chrX:16689371
|
T | C | 5 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0001t0002g0011others(2): Show | 5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+79A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689371 | ||||||
| chrX:16689722
|
G | A | 1 | a0001c0001t0002g0069 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.721-121C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689722 | ||||||
| chrX:16689781
|
T | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.721-180A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689781 | ||||||
| chrX:16689800
|
C | A | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.721-199G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689800 | ||||||
| chrX:16690051
|
CA | C | 1 | a0001c0001t0001g0077 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.721-451delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690051 | ||||||
| chrX:16690371
|
C | CA | 5 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(2): Show | 5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.721-771dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690371 | ||||||
| chrX:16690371
|
CA | C | 2 | a0001c0001t0001g0156a0001c0001t0002g0125 | 2 | NA19065.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.721-771delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690371 | ||||||
| chrX:16690555
|
G | C | 134 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(131): Show | 134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.721-954C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690555 | ||||||
| chrX:16691256
|
T | C | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.720+284A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691256 | ||||||
| chrX:16691311
|
T | C | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.720+229A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691311 | ||||||
| chrX:16691490
|
C | T | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.720+50G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691490 | ||||||
| chrX:16691503
|
G | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.720+37C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691503 | ||||||
| chrX:16691811
|
G | A | 1 | a0001c0001t0002g0073 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.640-191C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691811 | ||||||
| chrX:16691823
|
C | T | 1 | a0001c0001t0002g0120 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.640-203G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691823 | ||||||
| chrX:16691963
|
C | T | 134 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(131): Show | 134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.640-343G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691963 | ||||||
| chrX:16692044
|
TTTAC | T | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.640-428_640-425del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692044 | ||||||
| chrX:16692168
|
A | G | 1 | a0001c0001t0001g0167 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.640-548T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692168 | ||||||
| chrX:16692279
|
C | A | 131 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(128): Show | 131 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.640-659G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692279 | ||||||
| chrX:16692281
|
A | AAC | 5 | a0001c0001t0001g0014a0001c0001t0001g0143a0001c0001t0002g0017others(2): Show | 5 | HG02165.hp1 HG02451.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-663_640-662dup others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692281 | ||||||
| chrX:16692281
|
A | AC | 1 | a0001c0001t0001g0113 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.640-662_640-661ins others(1): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692281 | ||||||
| chrX:16692281
|
AACAC | A | 1 | a0001c0001t0003g0164 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.640-665_640-662del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692281 | ||||||
| chrX:16692324
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.640-704G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692324 | ||||||
| chrX:16692431
|
T | C | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.639+710A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692431 | ||||||
| chrX:16692675
|
A | C | 33 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.639+466T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692675 | ||||||
| chrX:16692784
|
T | A | 1 | a0001c0001t0002g0127 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.639+357A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692784 | ||||||
| chrX:16692882
|
A | ACT | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.639+257_639+258dup others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692882 | ||||||
| chrX:16692917
|
G | T | 1 | a0001c0002t0002g0137 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.639+224C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692917 | ||||||
| chrX:16693061
|
T | TA | 4 | a0001c0001t0001g0181a0001c0001t0002g0042a0001c0001t0008g0178others(1): Show | 4 | HG01952.hp1 HG03098.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+79dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16693061 | ||||||
| chrX:16693061
|
TA | T | 8 | a0001c0001t0001g0013a0001c0001t0001g0034a0001c0001t0001g0035others(5): Show | 8 | HG01167.hp1 HG01169.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.639+79delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16693061 | ||||||
| chrX:16693532
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.439-45A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693532 | ||||||
| chrX:16693677
|
C | T | 134 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(131): Show | 134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.439-190G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693677 | ||||||
| chrX:16693747
|
C | T | 1 | a0001c0001t0002g0049 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.439-260G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693747 | ||||||
| chrX:16694006
|
A | G | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.439-519T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694006 | ||||||
| chrX:16694608
|
G | C | 14 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194others(11): Show | 14 | HG01109.hp1 HG02055.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.439-1121C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694608 | ||||||
| chrX:16694631
|
G | C | 4 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0076others(1): Show | 4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.439-1144C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694631 | ||||||
| chrX:16694636
|
G | C | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.439-1149C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694636 | ||||||
| chrX:16694738
|
A | G | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.439-1251T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694738 | ||||||
| chrX:16694782
|
A | G | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.439-1295T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694782 | ||||||
| chrX:16695002
|
A | AAAC | 136 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(133): Show | 136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.439-1518_439-1516d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695002 | ||||||
| chrX:16695002
|
A | AAACAAC | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.439-1521_439-1516d others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695002 | ||||||
| chrX:16695015
|
A | C | 1 | a0001c0001t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.439-1528T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695015 | ||||||
| chrX:16695108
|
CA | C | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.439-1622delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695108 | ||||||
| chrX:16695114
|
C | T | 2 | a0001c0001t0001g0173a0001c0001t0001g0175 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.439-1627G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695114 | ||||||
| chrX:16695146
|
G | GA | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.439-1660dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695146 | ||||||
| chrX:16695414
|
G | A | 138 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(135): Show | 138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.439-1927C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695414 | ||||||
| chrX:16695534
|
CT | C | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.439-2048delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695534 | ||||||
| chrX:16695583
|
G | A | 133 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(130): Show | 133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.439-2096C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695583 | ||||||
| chrX:16695590
|
T | C | 133 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(130): Show | 133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.439-2103A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695590 | ||||||
| chrX:16695608
|
A | G | 133 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(130): Show | 133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.439-2121T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695608 | ||||||
| chrX:16695712
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.439-2225G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695712 | ||||||
| chrX:16695727
|
AT | A | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.439-2241delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695727 | ||||||
| chrX:16695876
|
A | G | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.438+2360T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695876 | ||||||
| chrX:16695972
|
TC | T | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+2263delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695972 | ||||||
| chrX:16696023
|
CT | C | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.438+2212delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696023 | ||||||
| chrX:16696142
|
TG | T | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+2093delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696142 | ||||||
| chrX:16696296
|
CA | C | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+1939delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696296 | ||||||
| chrX:16696894
|
C | CCAAA | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.438+1341_438+1342i others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696894 | ||||||
| chrX:16696970
|
AT | A | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+1265delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696970 | ||||||
| chrX:16697001
|
A | C | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.438+1235T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697001 | ||||||
| chrX:16697038
|
C | CA | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+1197dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697038 | ||||||
| chrX:16697085
|
A | G | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.438+1151T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697085 | ||||||
| chrX:16697248
|
T | G | 3 | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0006g0112 | 3 | HG02040.hp1 NA18943.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.438+988A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697248 | ||||||
| chrX:16697312
|
G | A | 1 | a0001c0001t0001g0062 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.438+924C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697312 | ||||||
| chrX:16697432
|
C | CT | 1 | a0001c0001t0014g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.438+803dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697432
|
CT | C | 77 | a0001c0001t0001g0004a0001c0001t0001g0044a0001c0001t0001g0045others(74): Show | 77 | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.438+803delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697432
|
CTT | C | 99 | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0022others(96): Show | 99 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(96): Show |
intron_variant | MODIFIER | c.438+802_438+803del others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697432
|
CTTT | C | 43 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(40): Show | 43 | HG00140.hp1 HG00621.hp1 HG01074.hp1 others(40): Show |
intron_variant | MODIFIER | c.438+801_438+803del others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697432
|
CTTTT | C | 3 | a0001c0001t0001g0166a0001c0001t0001g0175a0002c0004t0001g0201 | 3 | HG01167.hp1 NA19068.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.438+800_438+803del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697432
|
CTTTTTTT others(1): Show |
C | 1 | a0001c0001t0001g0113 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.438+796_438+803del others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | ||||||
| chrX:16697458
|
T | A | 3 | a0001c0001t0001g0084a0001c0001t0002g0042a0001c0001t0002g0043 | 3 | HG02258.hp1 HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.438+778A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697458 | ||||||
| chrX:16697472
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.438+764C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697472 | ||||||
| chrX:16697542
|
CA | C | 1 | a0001c0001t0001g0175 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.438+693delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697542 | ||||||
| chrX:16697641
|
G | A | 1 | a0001c0001t0002g0019 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.438+595C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697641 | ||||||
| chrX:16697883
|
TG | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.438+352delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697883 | ||||||
| chrX:16698011
|
C | T | 129 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(126): Show | 129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.438+225G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16698011 | ||||||
| chrX:16698155
|
T | TG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.438+80_438+81insC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16698155 | ||||||
| chrX:16698556
|
GT | G | 5 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(2): Show | 5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.338-221delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698556 | ||||||
| chrX:16698556
|
GTTT | G | 132 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(129): Show | 132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.338-223_338-221del others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698556 | ||||||
| chrX:16698663
|
G | C | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.337+260C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698663 | ||||||
| chrX:16698674
|
C | A | 1 | a0001c0001t0002g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.337+249G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698674 | ||||||
| chrX:16699230
|
G | A | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.167-137C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699230 | ||||||
| chrX:16699289
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.167-196G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699289 | ||||||
| chrX:16699392
|
AAAAC | A | 1 | a0001c0002t0002g0137 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.167-303_167-300del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699392 | ||||||
| chrX:16699740
|
C | G | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.167-647G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699740 | ||||||
| chrX:16699928
|
A | AT | 135 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(132): Show | 135 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(132): Show |
intron_variant | MODIFIER | c.167-836dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699928 | ||||||
| chrX:16699943
|
GT | G | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.167-851delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699943 | ||||||
| chrX:16699993
|
C | T | 1 | a0001c0001t0002g0127 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.167-900G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699993 | ||||||
| chrX:16700032
|
A | G | 1 | a0001c0002t0002g0198 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.167-939T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700032 | ||||||
| chrX:16700112
|
CATT | C | 135 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(132): Show | 135 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(132): Show |
intron_variant | MODIFIER | c.167-1022_167-1020d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700112 | ||||||
| chrX:16700191
|
A | G | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.167-1098T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700191 | ||||||
| chrX:16700386
|
C | T | 1 | a0001c0001t0001g0092 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.167-1293G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700386 | ||||||
| chrX:16700402
|
C | G | 3 | a0001c0001t0001g0046a0001c0001t0001g0085a0001c0001t0001g0086 | 3 | NA18956.hp2 NA18961.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.167-1309G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700402 | ||||||
| chrX:16700493
|
C | T | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.167-1400G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700493 | ||||||
| chrX:16700584
|
T | TA | 1 | a0001c0001t0001g0142 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.167-1492dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700584 | ||||||
| chrX:16701010
|
A | G | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.166+1727T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701010 | ||||||
| chrX:16701045
|
G | A | 1 | a0001c0001t0002g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.166+1692C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701045 | ||||||
| chrX:16701164
|
C | A | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.166+1573G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701164 | ||||||
| chrX:16701393
|
T | TA | 1 | a0001c0001t0005g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.166+1343dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701393 | ||||||
| chrX:16701393
|
TAAA | T | 8 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(5): Show | 8 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.166+1341_166+1343d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701393 | ||||||
| chrX:16701501
|
T | C | 1 | a0001c0001t0002g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.166+1236A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701501 | ||||||
| chrX:16701605
|
A | AT | 8 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0158others(5): Show | 8 | HG01109.hp1 HG02559.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.166+1131dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701605 | ||||||
| chrX:16701605
|
A | ATT | 1 | a0001c0001t0001g0142 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.166+1130_166+1131d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701605 | ||||||
| chrX:16701605
|
AT | A | 1 | a0001c0001t0001g0191 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.166+1131delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701605 | ||||||
| chrX:16701663
|
G | A | 1 | a0001c0001t0003g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.166+1074C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701663 | ||||||
| chrX:16701733
|
T | TG | 1 | a0001c0001t0001g0220 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.166+1003dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701733 | ||||||
| chrX:16701753
|
A | AC | 1 | a0001c0001t0001g0181 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.166+983dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701753 | ||||||
| chrX:16701762
|
G | A | 5 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0114others(2): Show | 5 | HG00642.hp1 HG01975.hp1 HG02273.hp1 others(2): Show |
intron_variant | MODIFIER | c.166+975C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701762 | ||||||
| chrX:16701815
|
G | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(129): Show | 132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.166+922C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701815 | ||||||
| chrX:16701842
|
G | A | 2 | a0001c0001t0002g0010a0001c0001t0002g0011 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.166+895C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701842 | ||||||
| chrX:16701993
|
CT | C | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.166+743delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701993 | ||||||
| chrX:16702044
|
T | TTTTG | 1 | a0001c0002t0002g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.166+689_166+692dup others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702044 | ||||||
| chrX:16702044
|
TTTTG | T | 2 | a0001c0001t0002g0192a0001c0001t0015g0226 | 2 | HG02055.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.166+689_166+692del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702044 | ||||||
| chrX:16702053
|
T | C | 2 | a0001c0001t0002g0017a0001c0001t0002g0018 | 2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.166+684A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702053 | ||||||
| chrX:16702146
|
C | T | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.166+591G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702146 | ||||||
| chrX:16702455
|
T | TC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.166+281dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702455 | ||||||
| chrX:16702495
|
A | C | 1 | a0001c0002t0002g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.166+242T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702495 | ||||||
| chrX:16702596
|
A | T | 1 | a0001c0001t0002g0012 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.166+141T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702596 | ||||||
| chrX:16703006
|
T | C | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.-39-65A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703006 | ||||||
| chrX:16703022
|
A | AT | 21 | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0138others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.-39-82dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703022 | ||||||
| chrX:16703022
|
A | ATT | 3 | a0001c0001t0002g0192a0001c0001t0003g0214a0001c0002t0002g0198 | 3 | HG02055.hp1 HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-39-83_-39-82dupAA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703022 | ||||||
| chrX:16703022
|
AT | A | 14 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0086others(11): Show | 14 | HG01099.hp1 HG02559.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.-39-82delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703022 | ||||||
| chrX:16703083
|
TG | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-143delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703083 | ||||||
| chrX:16703311
|
G | GC | 1 | a0001c0001t0001g0158 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-39-371dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703311 | ||||||
| chrX:16703331
|
A | AT | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-39-391dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703331 | ||||||
| chrX:16703560
|
TG | T | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-39-620delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703560 | ||||||
| chrX:16703623
|
GCTTCGTC others(4): Show |
G | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-693_-39-683del others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703623 | ||||||
| chrX:16703807
|
C | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.-39-866G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703807 | ||||||
| chrX:16703865
|
C | A | 1 | a0001c0001t0001g0216 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-39-924G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703865 | ||||||
| chrX:16703931
|
C | CT | 17 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0142others(14): Show | 17 | HG00280.hp1 HG00733.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.-39-991dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703931 | ||||||
| chrX:16703931
|
C | CTT | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-39-992_-39-991dup others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703931 | ||||||
| chrX:16703931
|
CT | C | 7 | a0001c0001t0001g0077a0001c0001t0001g0116a0001c0001t0001g0133others(4): Show | 7 | HG01515.hp1 NA18940.hp1 NA18959.hp1 others(4): Show |
intron_variant | MODIFIER | c.-39-991delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703931 | ||||||
| chrX:16704106
|
G | A | 1 | a0001c0001t0001g0210 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-39-1165C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704106 | ||||||
| chrX:16704166
|
T | TG | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-39-1226dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704166 | ||||||
| chrX:16704225
|
AC | A | 1 | a0001c0001t0001g0158 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-39-1285delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704225 | ||||||
| chrX:16704443
|
AT | A | 1 | a0001c0001t0001g0158 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-39-1503delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704443 | ||||||
| chrX:16704449
|
G | GA | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1509dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704449 | ||||||
| chrX:16704542
|
T | A | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1601A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704542 | ||||||
| chrX:16704620
|
G | A | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.-39-1679C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704620 | ||||||
| chrX:16704643
|
A | AT | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1703dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704643 | ||||||
| chrX:16704664
|
T | TC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1724dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704664 | ||||||
| chrX:16704737
|
CG | C | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1797delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704737 | ||||||
| chrX:16704790
|
A | AG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1850_-39-1849i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704790 | ||||||
| chrX:16704852
|
AAGAGAGA others(20): Show |
A | 5 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194others(2): Show | 5 | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.-39-1938_-39-1912d others(29): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704852 | ||||||
| chrX:16704932
|
G | GA | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1992dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704932 | ||||||
| chrX:16704948
|
C | CA | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2008dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704948 | ||||||
| chrX:16704993
|
C | T | 1 | a0001c0001t0001g0083 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.-39-2052G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704993 | ||||||
| chrX:16704999
|
T | C | 1 | a0001c0001t0003g0214 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-39-2058A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704999 | ||||||
| chrX:16705065
|
TG | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2125delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705065 | ||||||
| chrX:16705115
|
G | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.-39-2174C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705115 | ||||||
| chrX:16705132
|
TA | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2192delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705132 | ||||||
| chrX:16705208
|
T | G | 2 | a0001c0001t0001g0089a0001c0001t0001g0090 | 2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.-39-2267A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705208 | ||||||
| chrX:16705223
|
TA | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2283delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705223 | ||||||
| chrX:16705243
|
TA | T | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2303delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705243 | ||||||
| chrX:16705247
|
T | A | 1 | a0001c0002t0011g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-39-2306A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705247 | ||||||
| chrX:16705347
|
CTGATT | C | 1 | a0001c0001t0003g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.-39-2411_-39-2407d others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705347 | ||||||
| chrX:16705391
|
TG | T | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-2451delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705391 | ||||||
| chrX:16705403
|
G | GT | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2463dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705403 | ||||||
| chrX:16705516
|
G | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(134): Show | 137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.-39-2575C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705516 | ||||||
| chrX:16705675
|
AG | A | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2735delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705675 | ||||||
| chrX:16705835
|
G | T | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-39-2894C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705835 | ||||||
| chrX:16705880
|
A | AT | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-2940dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705880 | ||||||
| chrX:16705993
|
A | AG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3053dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705993 | ||||||
| chrX:16706100
|
C | CA | 5 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0002g0007others(2): Show | 5 | HG00735.hp1 HG02071.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-39-3160dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706100 | ||||||
| chrX:16706100
|
CA | C | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-3160delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706100 | ||||||
| chrX:16706124
|
AAAG | A | 1 | a0001c0001t0001g0157 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-39-3186_-39-3184d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706124 | ||||||
| chrX:16706127
|
G | GA | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3187dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706127 | ||||||
| chrX:16706221
|
C | T | 1 | a0001c0001t0001g0202 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-39-3280G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706221 | ||||||
| chrX:16706241
|
TG | T | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3301delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706241 | ||||||
| chrX:16706248
|
AC | A | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3308delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706248 | ||||||
| chrX:16706329
|
AC | A | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3389delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706329 | ||||||
| chrX:16706334
|
A | C | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3393T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706334 | ||||||
| chrX:16706336
|
T | G | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3395A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706336 | ||||||
| chrX:16706339
|
CT | C | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3399delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706339 | ||||||
| chrX:16706348
|
G | GAAT | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3408_-39-3407i others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706348 | ||||||
| chrX:16706357
|
AG | A | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3417delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706357 | ||||||
| chrX:16706386
|
G | GC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3446dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706386 | ||||||
| chrX:16706391
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(3): Show | 6 | HG00642.hp1 HG01975.hp1 HG02273.hp1 others(3): Show |
intron_variant | MODIFIER | c.-39-3450G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706391 | ||||||
| chrX:16706405
|
AGAGT | A | 2 | a0001c0001t0002g0010a0001c0001t0002g0011 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-39-3468_-39-3465d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706405 | ||||||
| chrX:16706415
|
TC | T | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3475delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706415 | ||||||
| chrX:16706470
|
TC | T | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3530delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706470 | ||||||
| chrX:16706604
|
T | TA | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3664dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706604 | ||||||
| chrX:16706618
|
TG | T | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-3678delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706618 | ||||||
| chrX:16706639
|
TC | T | 1 | a0001c0001t0001g0086 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3699delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706639 | ||||||
| chrX:16706715
|
G | GC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3775dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706715 | ||||||
| chrX:16706748
|
G | C | 140 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(137): Show | 140 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(137): Show |
intron_variant | MODIFIER | c.-39-3807C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706748 | ||||||
| chrX:16706802
|
A | AG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3862dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706802 | ||||||
| chrX:16706821
|
A | AT | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-3881dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706821 | ||||||
| chrX:16706835
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-3895delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706835 | ||||||
| chrX:16706856
|
T | A | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-3915A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706856 | ||||||
| chrX:16706861
|
CA | C | 1 | a0001c0001t0001g0085 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.-39-3921delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706861 | ||||||
| chrX:16706868
|
A | C | 6 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0076others(3): Show | 6 | HG02559.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-39-3927T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706868 | ||||||
| chrX:16706887
|
A | AC | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-3947dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706887 | ||||||
| chrX:16706936
|
G | A | 3 | a0001c0001t0002g0007a0001c0002t0002g0075a0001c0002t0002g0218 | 3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-39-3995C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706936 | ||||||
| chrX:16706949
|
A | AG | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-4009dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706949 | ||||||
| chrX:16706959
|
C | G | 1 | a0001c0001t0001g0020 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-39-4018G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706959 | ||||||
| chrX:16706977
|
A | AG | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-39-4037dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706977 | ||||||
| chrX:16707042
|
C | CA | 133 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(130): Show | 133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.-39-4102dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707042 | ||||||
| chrX:16707042
|
C | CAA | 1 | a0001c0001t0002g0041 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-39-4103_-39-4102d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707042 | ||||||
| chrX:16707042
|
CA | C | 3 | a0001c0001t0001g0084a0001c0001t0002g0042a0001c0001t0002g0043 | 3 | HG02258.hp1 HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-39-4102delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707042 | ||||||
| chrX:16707056
|
G | A | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4115C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707056 | ||||||
| chrX:16707057
|
A | G | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4116T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707057 | ||||||
| chrX:16707060
|
A | AG | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-4120dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707060 | ||||||
| chrX:16707071
|
TA | T | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4131delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707071 | ||||||
| chrX:16707229
|
G | GT | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-39-4289dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707229 | ||||||
| chrX:16707251
|
G | GC | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-4311_-39-4310i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707251 | ||||||
| chrX:16707320
|
C | CA | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-4380dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707320 | ||||||
| chrX:16707380
|
G | GA | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-4440dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707380 | ||||||
| chrX:16707547
|
A | AG | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-4607_-39-4606i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707547 | ||||||
| chrX:16707570
|
AG | A | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4630delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707570 | ||||||
| chrX:16707600
|
G | A | 1 | a0001c0001t0001g0118 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-39-4659C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707600 | ||||||
| chrX:16707620
|
G | C | 1 | a0001c0001t0002g0073 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-39-4679C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707620 | ||||||
| chrX:16707697
|
G | GT | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-40+4637dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707697 | ||||||
| chrX:16707717
|
A | C | 1 | a0002c0004t0001g0201 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-40+4618T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707717 | ||||||
| chrX:16707730
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-40+4604delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707730 | ||||||
| chrX:16707747
|
C | CGG | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-40+4586_-40+4587d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707747 | ||||||
| chrX:16707814
|
AAT | A | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-40+4519_-40+4520d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707814 | ||||||
| chrX:16707826
|
A | AG | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-40+4508dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707826 | ||||||
| chrX:16707865
|
T | C | 134 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(131): Show | 134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.-40+4470A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707865 | ||||||
| chrX:16707974
|
T | TC | 1 | a0001c0001t0001g0166 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-40+4360dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707974 | ||||||
| chrX:16707999
|
A | AAG | 6 | a0001c0001t0001g0016a0001c0001t0002g0015a0001c0001t0002g0017others(3): Show | 6 | HG01070.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-40+4334_-40+4335d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707999 | ||||||
| chrX:16708052
|
CT | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4282delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708052 | ||||||
| chrX:16708064
|
AT | A | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-40+4270delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708064 | ||||||
| chrX:16708072
|
A | AT | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4262dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708072 | ||||||
| chrX:16708106
|
C | CA | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4228dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708106 | ||||||
| chrX:16708110
|
CG | C | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-40+4224delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708110 | ||||||
| chrX:16708150
|
T | TC | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4184dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708150 | ||||||
| chrX:16708200
|
CA | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4134delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708200 | ||||||
| chrX:16708248
|
TC | T | 1 | a0001c0001t0002g0172 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-40+4086delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708248 | ||||||
| chrX:16708276
|
G | GT | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4058_-40+4059i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708276 | ||||||
| chrX:16708313
|
C | CA | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4021dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708313 | ||||||
| chrX:16708319
|
A | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4016T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708319 | ||||||
| chrX:16708440
|
CT | C | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3894delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708440 | ||||||
| chrX:16708456
|
T | TC | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3878dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708456 | ||||||
| chrX:16708521
|
G | GA | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3813dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708521 | ||||||
| chrX:16708546
|
TA | T | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3788delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708546 | ||||||
| chrX:16708587
|
AT | A | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3747delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708587 | ||||||
| chrX:16708629
|
TA | T | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3705delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708629 | ||||||
| chrX:16708633
|
CA | C | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-40+3701delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708633 | ||||||
| chrX:16708694
|
A | C | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+3641T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708694 | ||||||
| chrX:16708713
|
C | T | 1 | a0001c0001t0001g0167 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-40+3622G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708713 | ||||||
| chrX:16708815
|
C | T | 2 | a0001c0001t0002g0010a0001c0001t0002g0011 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-40+3520G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708815 | ||||||
| chrX:16708870
|
A | AG | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3464dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708870 | ||||||
| chrX:16708883
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0173a0001c0001t0001g0174others(1): Show | 4 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-40+3452G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708883 | ||||||
| chrX:16708937
|
T | C | 5 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(2): Show | 5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.-40+3398A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708937 | ||||||
| chrX:16708956
|
A | C | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-40+3379T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708956 | ||||||
| chrX:16709068
|
C | A | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3267G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709068 | ||||||
| chrX:16709109
|
C | CA | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-40+3225dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709109 | ||||||
| chrX:16709122
|
T | TA | 2 | a0001c0001t0001g0158a0001c0002t0002g0224 | 2 | NA18965.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.-40+3212dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709122 | ||||||
| chrX:16709155
|
C | T | 26 | a0001c0001t0001g0014a0001c0001t0001g0063a0001c0001t0001g0066others(23): Show | 26 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(23): Show |
intron_variant | MODIFIER | c.-40+3180G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709155 | ||||||
| chrX:16709157
|
G | GTGGCTCA others(416): Show |
3 | a0001c0002t0002g0211a0001c0002t0002g0212a0001c0002t0002g0215 | 3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-40+3177_-40+3178i others(425): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709157 | ||||||
| chrX:16709335
|
C | T | 2 | a0001c0001t0002g0010a0001c0001t0002g0011 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-40+3000G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709335 | ||||||
| chrX:16709358
|
G | A | 1 | a0001c0001t0002g0134 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-40+2977C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709358 | ||||||
| chrX:16709420
|
CG | C | 1 | a0001c0002t0002g0135 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-40+2914delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709420 | ||||||
| chrX:16709421
|
G | C | 139 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.-40+2914C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709421 | ||||||
| chrX:16709427
|
C | CA | 3 | a0001c0001t0001g0077a0001c0001t0001g0083a0001c0001t0001g0158 | 3 | NA18956.hp1 NA18965.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.-40+2907dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709427 | ||||||
| chrX:16709427
|
CA | C | 4 | a0001c0001t0001g0159a0001c0001t0001g0166a0001c0001t0002g0010others(1): Show | 4 | HG01168.hp1 HG03195.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.-40+2907delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709427 | ||||||
| chrX:16709620
|
G | T | 10 | a0001c0001t0002g0161a0001c0001t0002g0199a0001c0001t0003g0009others(7): Show | 10 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(7): Show |
intron_variant | MODIFIER | c.-40+2715C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709620 | ||||||
| chrX:16709621
|
C | CG | 1 | a0001c0002t0002g0078 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-40+2713dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709621 | ||||||
| chrX:16709622
|
G | A | 1 | a0001c0001t0001g0159 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.-40+2713C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709622 | ||||||
| chrX:16709654
|
T | G | 3 | a0001c0001t0003g0214a0001c0002t0002g0198a0001c0002t0002g0213 | 3 | HG02280.hp2 HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-40+2681A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709654 | ||||||
| chrX:16709657
|
T | C | 3 | a0001c0001t0003g0214a0001c0002t0002g0198a0001c0002t0002g0213 | 3 | HG02280.hp2 HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-40+2678A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709657 | ||||||
| chrX:16709732
|
T | C | 39 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(36): Show | 39 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.-40+2603A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709732 | ||||||
| chrX:16709753
|
G | T | 40 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(37): Show | 40 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(37): Show |
intron_variant | MODIFIER | c.-40+2582C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709753 | ||||||
| chrX:16709760
|
A | C | 1 | a0001c0001t0001g0160 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-40+2575T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709760 | ||||||
| chrX:16709833
|
G | C | 1 | a0001c0003t0002g0136 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-40+2502C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709833 | ||||||
| chrX:16709841
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-40+2494G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709841 | ||||||
| chrX:16709848
|
C | CA | 62 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(59): Show | 62 | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(59): Show |
intron_variant | MODIFIER | c.-40+2486dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
C | CAA | 26 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0142others(23): Show | 26 | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-40+2485_-40+2486d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
C | CAAA | 41 | a0001c0001t0001g0160a0001c0001t0001g0166a0001c0001t0001g0167others(38): Show | 41 | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.-40+2484_-40+2486d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
C | CAAAA | 18 | a0001c0001t0001g0002a0001c0001t0001g0202a0001c0001t0001g0205others(15): Show | 18 | HG00733.hp2 HG01243.hp1 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.-40+2483_-40+2486d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
C | CAAAAA | 1 | a0001c0002t0002g0215 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-40+2482_-40+2486d others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
CA | C | 3 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0012 | 3 | HG02615.hp2 HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-40+2486delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
CAAAAAAA others(2): Show |
C | 1 | a0001c0001t0003g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.-40+2478_-40+2486d others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
CAAAAAAA others(5): Show |
C | 1 | a0001c0001t0002g0008 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-40+2475_-40+2486d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16709848
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+2474_-40+2486d others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | ||||||
| chrX:16710054
|
A | G | 1 | a0001c0001t0002g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-40+2281T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710054 | ||||||
| chrX:16710164
|
A | T | 1 | a0001c0001t0002g0006 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-40+2171T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710164 | ||||||
| chrX:16710615
|
T | TTTG | 1 | a0001c0001t0001g0216 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-40+1717_-40+1719d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710615 | ||||||
| chrX:16710627
|
G | C | 1 | a0001c0001t0002g0217 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-40+1708C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710627 | ||||||
| chrX:16710848
|
A | AC | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1486dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710848 | ||||||
| chrX:16710869
|
G | A | 1 | a0001c0002t0002g0218 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-40+1466C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710869 | ||||||
| chrX:16710925
|
CT | C | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1409delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710925 | ||||||
| chrX:16710958
|
C | G | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1377G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710958 | ||||||
| chrX:16710959
|
A | C | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1376T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710959 | ||||||
| chrX:16710985
|
T | C | 1 | a0001c0001t0002g0219 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+1350A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710985 | ||||||
| chrX:16710991
|
A | G | 1 | a0001c0002t0002g0005 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-40+1344T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710991 | ||||||
| chrX:16711003
|
AT | A | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1331delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711003 | ||||||
| chrX:16711031
|
A | AG | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1303dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711031 | ||||||
| chrX:16711171
|
T | TA | 1 | a0001c0001t0001g0220 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.-40+1163dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711171 | ||||||
| chrX:16711213
|
G | GT | 1 | a0001c0001t0001g0004 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1121dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711213 | ||||||
| chrX:16711448
|
AC | A | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+886delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711448 | ||||||
| chrX:16711615
|
G | GA | 1 | a0001c0002t0002g0003 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-40+719dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711615 | ||||||
| chrX:16711735
|
G | GT | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+599dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711735 | ||||||
| chrX:16711838
|
C | CG | 1 | a0001c0002t0002g0003 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-40+496dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711838 | ||||||
| chrX:16711849
|
C | A | 1 | a0001c0001t0002g0221 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-40+486G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711849 | ||||||
| chrX:16711881
|
C | CG | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+453dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711881 | ||||||
| chrX:16711885
|
G | A | 1 | a0001c0001t0001g0222 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.-40+450C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711885 | ||||||
| chrX:16711933
|
A | AC | 1 | a0001c0001t0001g0002 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-40+401dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711933 | ||||||
| chrX:16712054
|
T | TC | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+280dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16712054 | ||||||
| chrX:16712163
|
G | C | 1 | a0001c0002t0002g0223 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-40+172C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16712163 | ||||||
| chrX:16712268
|
T | TG | 1 | a0001c0002t0002g0224 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+66dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16712268 |