Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 9847 |
|---|---|
| ensemblid | ENSG00000111731.13 |
| hgncid | 29062 |
| symbol | C2CD5 |
| name | C2 calcium dependent domain containing 5 |
| refseq_nuc | NM_001286176.2 |
| refseq_prot | NP_001273105.1 |
| ensembl_nuc | ENST00000446597.6 |
| ensembl_prot | ENSP00000388756.1 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 22448583 |
| end | 22544542 |
| strand | - |
| ver | v1.2 |
| region | chr12:22448583-22544542 |
| region5000 | chr12:22443583-22549542 |
| regionname0 | C2CD5_chr12_22448583_22544542 |
| regionname5000 | C2CD5_chr12_22443583_22549542 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1051 | 199 | 88 | 40 | 37 | 6 | 26 | 25 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0002 | 0/0 | 1051 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 3156 | 112 | 57 | 24 | 10 | 3 | 17 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0002 | 1/0 | 3156 | 61 | 17 | 14 | 18 | 3 | 8 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0003 | 0/0 | 3156 | 15 | 13 | 2 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0004 | 0/0 | 3156 | 9 | 0 | 0 | 8 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0005 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0006 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| c0007 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 1430 | 132 | 38 | 35 | 31 | 5 | 21 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0002 | 0/0 | 1430 | 16 | 2 | 4 | 4 | 1 | 5 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0003 | 0/0 | 1430 | 14 | 14 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0004 | 0/0 | 1430 | 13 | 13 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0005 | 0/0 | 1430 | 5 | 5 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0006 | 0/0 | 1430 | 5 | 5 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0007 | 0/0 | 1432 | 3 | 3 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0008 | 0/0 | 1430 | 3 | 1 | 0 | 2 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0009 | 0/0 | 1430 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0010 | 0/0 | 1430 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0011 | 0/0 | 1430 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0012 | 0/0 | 1430 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0013 | 0/0 | 1430 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0014 | 0/0 | 1430 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0015 | 0/0 | 1430 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| t0016 | 0/0 | 1430 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0007 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0057 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0121 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3156 | 112 | 57 | 24 | 10 | 3 | 17 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0002 | 1/0 | 3156 | 61 | 17 | 14 | 18 | 3 | 8 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0003 | 0/0 | 3156 | 15 | 13 | 2 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0004 | 0/0 | 3156 | 9 | 0 | 0 | 8 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0005 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0006 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0002c0007 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 4585 | 57 | 15 | 21 | 5 | 3 | 12 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0002 | 0/0 | 4585 | 14 | 2 | 3 | 4 | 0 | 5 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0003 | 0/0 | 4585 | 11 | 11 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0004 | 0/0 | 4585 | 13 | 13 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0005 | 0/0 | 4585 | 5 | 5 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0006 | 0/0 | 4585 | 5 | 5 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0009 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0010 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0011 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0012 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0013 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0014 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0001t0016 | 0/0 | 4585 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0002t0001 | 1/0 | 4585 | 55 | 16 | 12 | 16 | 2 | 8 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0002t0002 | 0/0 | 4585 | 2 | 0 | 1 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0002t0008 | 0/0 | 4585 | 3 | 1 | 0 | 2 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0002t0015 | 0/0 | 4585 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0003t0001 | 0/0 | 4585 | 8 | 6 | 2 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0003t0003 | 0/0 | 4585 | 3 | 3 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0003t0007 | 0/0 | 4587 | 3 | 3 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0003t0009 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0004t0001 | 0/0 | 4585 | 9 | 0 | 0 | 8 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0005t0001 | 0/0 | 4585 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0001c0006t0001 | 0/0 | 4585 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| a0002c0007t0001 | 0/0 | 4585 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | copy fasta | chr12 | 22443583 | 22549542 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0121 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0003g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0005g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0005g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0005g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0005g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0006g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0006g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0006g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0006g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0006g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0009g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0010g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0011g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0012g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0013g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0014g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0001t0016g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0001 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0057 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0008g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0008g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0008g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0002t0015g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0003g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0003g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0007g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0007g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0007g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0003t0009g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0004t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0005t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0001c0006t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| a0002c0007t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0040 | EUR | GBR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00099 | hp2 | a0001 | c0002 | t0001 | g0128 | EUR | GBR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00323 | hp1 | a0001 | c0002 | t0001 | g0172 | EUR | FIN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0087 | EUR | FIN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00423 | hp1 | a0001 | c0002 | t0001 | g0184 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00423 | hp2 | a0001 | c0004 | t0001 | g0049 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0163 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00609 | hp2 | a0001 | c0002 | t0008 | g0066 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00621 | hp1 | a0001 | c0002 | t0001 | g0065 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00621 | hp2 | a0001 | c0002 | t0008 | g0185 | EAS | CHS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0094 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00733 | hp2 | a0001 | c0002 | t0001 | g0174 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00735 | hp2 | a0001 | c0002 | t0001 | g0009 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0023 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0107 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01109 | hp2 | a0001 | c0002 | t0001 | g0009 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01168 | hp1 | a0001 | c0003 | t0001 | g0158 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01169 | hp2 | a0001 | c0003 | t0001 | g0157 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0028 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01243 | hp2 | a0001 | c0002 | t0001 | g0054 | AMR | PUR | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01255 | hp1 | a0001 | c0002 | t0002 | g0031 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0120 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0022 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0109 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01258 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01261 | hp2 | a0001 | c0002 | t0001 | g0067 | AMR | CLM | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0095 | EUR | IBS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01516 | hp2 | a0001 | c0002 | t0002 | g0032 | EUR | IBS | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01884 | hp1 | a0001 | c0001 | t0004 | g0002 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01884 | hp2 | a0001 | c0001 | t0004 | g0015 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01891 | hp1 | a0001 | c0001 | t0006 | g0129 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01891 | hp2 | a0001 | c0001 | t0003 | g0141 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0080 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0114 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01981 | hp2 | a0001 | c0002 | t0001 | g0165 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01993 | hp1 | a0001 | c0002 | t0001 | g0167 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02027 | hp2 | a0001 | c0005 | t0001 | g0166 | EAS | KHV | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | KHV | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02135 | hp2 | a0001 | c0002 | t0001 | g0186 | EAS | KHV | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02145 | hp1 | a0001 | c0001 | t0003 | g0140 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02145 | hp2 | a0001 | c0001 | t0011 | g0034 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0086 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02148 | hp2 | a0001 | c0002 | t0015 | g0173 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0182 | EAS | CDX | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02165 | hp2 | a0001 | c0002 | t0001 | g0064 | EAS | CDX | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02257 | hp2 | a0001 | c0002 | t0001 | g0043 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02258 | hp1 | a0001 | c0002 | t0001 | g0073 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02273 | hp1 | a0001 | c0002 | t0001 | g0175 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0098 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02280 | hp2 | a0001 | c0003 | t0001 | g0149 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02300 | hp1 | a0001 | c0002 | t0001 | g0068 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0115 | AMR | PEL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02451 | hp1 | a0001 | c0001 | t0004 | g0017 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02572 | hp1 | a0001 | c0003 | t0001 | g0147 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02572 | hp2 | a0001 | c0001 | t0004 | g0004 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02622 | hp1 | a0001 | c0001 | t0005 | g0077 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02622 | hp2 | a0001 | c0002 | t0001 | g0055 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02647 | hp1 | a0001 | c0003 | t0001 | g0152 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02647 | hp2 | a0001 | c0002 | t0001 | g0053 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0104 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02698 | hp2 | a0001 | c0002 | t0001 | g0187 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02723 | hp1 | a0001 | c0002 | t0001 | g0084 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02723 | hp2 | a0001 | c0001 | t0012 | g0035 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02809 | hp1 | a0001 | c0002 | t0008 | g0070 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0071 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02886 | hp1 | a0001 | c0002 | t0001 | g0056 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02895 | hp2 | a0001 | c0001 | t0006 | g0131 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02896 | hp1 | a0001 | c0002 | t0001 | g0081 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02896 | hp2 | a0001 | c0001 | t0003 | g0133 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02897 | hp1 | a0001 | c0002 | t0001 | g0082 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02897 | hp2 | a0001 | c0001 | t0006 | g0132 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02922 | hp1 | a0001 | c0001 | t0004 | g0018 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02922 | hp2 | a0001 | c0006 | t0001 | g0059 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02965 | hp1 | a0001 | c0003 | t0003 | g0008 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02965 | hp2 | a0001 | c0001 | t0010 | g0010 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0134 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02970 | hp2 | a0001 | c0002 | t0001 | g0074 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02976 | hp1 | a0001 | c0001 | t0006 | g0130 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02976 | hp2 | a0001 | c0003 | t0007 | g0154 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0099 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03041 | hp2 | a0001 | c0002 | t0001 | g0060 | AFR | GWD | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03130 | hp1 | a0001 | c0003 | t0003 | g0008 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03130 | hp2 | a0001 | c0003 | t0001 | g0148 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03139 | hp1 | a0001 | c0001 | t0005 | g0006 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03139 | hp2 | a0001 | c0001 | t0009 | g0138 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03195 | hp1 | a0001 | c0003 | t0009 | g0151 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03195 | hp2 | a0001 | c0002 | t0001 | g0083 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0126 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0160 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03225 | hp2 | a0001 | c0003 | t0001 | g0150 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03453 | hp1 | a0001 | c0001 | t0003 | g0145 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0127 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03486 | hp1 | a0001 | c0001 | t0003 | g0139 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03486 | hp2 | a0001 | c0003 | t0001 | g0156 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0003 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0100 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03491 | hp1 | a0001 | c0002 | t0001 | g0189 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0105 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0188 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0003 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03516 | hp1 | a0001 | c0001 | t0005 | g0079 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0042 | AFR | ESN | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03579 | hp1 | a0001 | c0003 | t0007 | g0153 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03579 | hp2 | a0001 | c0001 | t0004 | g0002 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0063 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | STU | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0162 | SAS | STU | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0097 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03704 | hp2 | a0001 | c0002 | t0001 | g0181 | SAS | PJL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0021 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03834 | hp2 | a0001 | c0002 | t0001 | g0062 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03927 | hp1 | a0001 | c0001 | t0002 | g0030 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0190 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0122 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03942 | hp2 | a0001 | c0004 | t0001 | g0046 | SAS | BEB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0113 | SAS | STU | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0170 | SAS | STU | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18522 | hp1 | a0001 | c0001 | t0005 | g0006 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18522 | hp2 | a0001 | c0001 | t0014 | g0037 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18906 | hp1 | a0001 | c0002 | t0001 | g0142 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18906 | hp2 | a0001 | c0001 | t0004 | g0019 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0025 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18957 | hp1 | a0001 | c0002 | t0001 | g0171 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18957 | hp2 | a0001 | c0001 | t0002 | g0024 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0027 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18959 | hp2 | a0001 | c0002 | t0001 | g0177 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18960 | hp1 | a0001 | c0004 | t0001 | g0052 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18960 | hp2 | a0002 | c0007 | t0001 | g0169 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18961 | hp1 | a0001 | c0004 | t0001 | g0005 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18961 | hp2 | a0001 | c0002 | t0001 | g0161 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18995 | hp1 | a0001 | c0004 | t0001 | g0048 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA18995 | hp2 | a0001 | c0001 | t0002 | g0026 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19012 | hp1 | a0001 | c0002 | t0001 | g0183 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19030 | hp1 | a0001 | c0001 | t0003 | g0143 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19030 | hp2 | a0001 | c0002 | t0001 | g0058 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19043 | hp1 | a0001 | c0001 | t0013 | g0036 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19054 | hp1 | a0001 | c0002 | t0001 | g0168 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19054 | hp2 | a0001 | c0004 | t0001 | g0050 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0176 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19075 | hp1 | a0001 | c0002 | t0001 | g0178 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19075 | hp2 | a0001 | c0004 | t0001 | g0051 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19084 | hp1 | a0001 | c0002 | t0001 | g0180 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19084 | hp2 | a0001 | c0004 | t0001 | g0047 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19086 | hp1 | a0001 | c0002 | t0001 | g0164 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19086 | hp2 | a0001 | c0004 | t0001 | g0005 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0179 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19091 | hp2 | a0001 | c0001 | t0016 | g0089 | EAS | JPT | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19240 | hp1 | a0001 | c0003 | t0003 | g0155 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA19240 | hp2 | a0001 | c0001 | t0003 | g0144 | AFR | YRI | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0033 | AFR | ASW | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20129 | hp2 | a0001 | c0001 | t0003 | g0146 | AFR | ASW | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0029 | SAS | GIH | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0118 | SAS | GIH | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02109 | hp1 | a0001 | c0001 | t0006 | g0136 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02109 | hp2 | a0001 | c0002 | t0001 | g0061 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02486 | hp2 | a0001 | c0001 | t0004 | g0014 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02559 | hp1 | a0001 | c0001 | t0004 | g0004 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG02559 | hp2 | a0001 | c0003 | t0007 | g0159 | AFR | ACB | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0045 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG03471 | hp2 | a0001 | c0001 | t0003 | g0135 | AFR | MSL | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG06807 | hp1 | a0001 | c0001 | t0004 | g0020 | AFR | USA | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | USA | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20300 | hp1 | a0001 | c0001 | t0005 | g0078 | AFR | USA | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA20300 | hp2 | a0001 | c0001 | t0004 | g0016 | AFR | USA | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA21309 | hp1 | a0001 | c0002 | t0001 | g0076 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| NA21309 | hp2 | a0001 | c0001 | t0003 | g0137 | AFR | LWK | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0121 | REF | REF | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0057 | REF | REF | C2CD5_chr12_22443583_22549542 | C2CD5 | chr12 | 22443583 | 22549542 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:22478453
|
C | G | 1 | a0002 | 1 | NA18960.hp2 | missense_variant | MODERATE | c.1762G>C | p.Ala588Pro | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/27 | 2014/4585 | 1762/3156 | 588/1051 | chr12 | 22478453 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:22449862
|
A | G | 3 | a0001c0001a0001c0003a0001c0004 | 136 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(133): Show |
synonymous_variant | LOW | c.3054T>C | p.Asp1018Asp | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 3306/4585 | 3054/3156 | 1018/1051 | chr12 | 22449862 | ||
| chr12:22472304
|
A | G | 1 | a0001c0004 | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
synonymous_variant | LOW | c.2151T>C | p.Asn717Asn | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 18/27 | 2403/4585 | 2151/3156 | 717/1051 | chr12 | 22472304 | ||
| chr12:22523545
|
A | G | 1 | a0001c0006 | 1 | HG02922.hp2 | synonymous_variant | LOW | c.681T>C | p.Asp227Asp | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/27 | 933/4585 | 681/3156 | 227/1051 | chr12 | 22523545 | ||
| chr12:22525686
|
A | G | 1 | a0001c0005 | 1 | HG02027.hp2 | synonymous_variant | LOW | c.369T>C | p.Asn123Asn | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/27 | 621/4585 | 369/3156 | 123/1051 | chr12 | 22525686 | ||
| chr12:22527875
|
T | C | 1 | a0001c0003 | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
synonymous_variant | LOW | c.195A>G | p.Leu65Leu | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/27 | 447/4585 | 195/3156 | 65/1051 | chr12 | 22527875 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:22448607
|
A | T | 1 | a0001c0001t0016 | 1 | NA19091.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1153T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 1153 | chr12 | 22448607 | |||||
| chr12:22448698
|
A | G | 1 | a0001c0002t0008 | 3 | HG00609.hp2 HG00621.hp2 HG02809.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1062T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 1062 | chr12 | 22448698 | |||||
| chr12:22448774
|
C | G | 1 | a0001c0001t0005 | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*986G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 986 | chr12 | 22448774 | |||||
| chr12:22448951
|
G | GAT | 1 | a0001c0003t0007 | 3 | HG02559.hp2 HG02976.hp2 HG03579.hp1 |
3_prime_UTR_variant | MODIFIER | c.*808_*809insAT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 808 | chr12 | 22448951 | |||||
| chr12:22448953
|
A | T | 1 | a0001c0003t0007 | 3 | HG02559.hp2 HG02976.hp2 HG03579.hp1 |
3_prime_UTR_variant | MODIFIER | c.*807T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 807 | chr12 | 22448953 | |||||
| chr12:22449050
|
A | G | 1 | a0001c0002t0015 | 1 | HG02148.hp2 | 3_prime_UTR_variant | MODIFIER | c.*710T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 710 | chr12 | 22449050 | |||||
| chr12:22449094
|
A | G | 2 | a0001c0001t0009a0001c0003t0009 | 2 | HG03139.hp2 HG03195.hp1 |
3_prime_UTR_variant | MODIFIER | c.*666T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 666 | chr12 | 22449094 | |||||
| chr12:22449348
|
C | T | 1 | a0001c0001t0010 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*412G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 412 | chr12 | 22449348 | |||||
| chr12:22449603
|
A | G | 6 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(3): Show | 20 | HG01891.hp2 HG02145.hp1 HG02559.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*157T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 157 | chr12 | 22449603 | |||||
| chr12:22449612
|
T | C | 3 | a0001c0001t0004a0001c0001t0006a0001c0001t0010 | 19 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*148A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 148 | chr12 | 22449612 | |||||
| chr12:22449693
|
T | A | 1 | a0001c0001t0013 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*67A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 27/27 | 67 | chr12 | 22449693 | |||||
| chr12:22544339
|
C | T | 1 | a0001c0001t0011 | 1 | HG02145.hp2 | 5_prime_UTR_variant | MODIFIER | c.-49G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/27 | 189 | chr12 | 22544339 | |||||
| chr12:22544345
|
C | T | 1 | a0001c0001t0014 | 1 | NA18522.hp2 | 5_prime_UTR_variant | MODIFIER | c.-55G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/27 | 195 | chr12 | 22544345 | |||||
| chr12:22544443
|
A | C | 3 | a0001c0001t0011a0001c0001t0012a0001c0001t0013 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
5_prime_UTR_variant | MODIFIER | c.-153T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/27 | 293 | chr12 | 22544443 | |||||
| chr12:22544489
|
C | T | 4 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | 30 | HG00738.hp1 HG01175.hp2 HG01255.hp1 others(27): Show |
5_prime_UTR_variant | MODIFIER | c.-199G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/27 | 339 | chr12 | 22544489 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:22450004
|
G | C | 14 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(11): Show | 16 | HG00423.hp2 HG02145.hp2 HG02647.hp1 others(13): Show |
intron_variant | MODIFIER | c.3025-113C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450004 | ||||||
| chr12:22450031
|
A | C | 1 | a0001c0001t0012g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3025-140T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450031 | ||||||
| chr12:22450135
|
A | G | 2 | a0001c0002t0001g0071a0001c0002t0001g0142 | 2 | HG02809.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3025-244T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450135 | ||||||
| chr12:22450174
|
A | T | 1 | a0001c0002t0001g0168 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.3025-283T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450174 | ||||||
| chr12:22450242
|
A | G | 38 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(35): Show | 40 | HG00423.hp2 HG01168.hp1 HG01169.hp2 others(37): Show |
intron_variant | MODIFIER | c.3025-351T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450242 | ||||||
| chr12:22450478
|
T | C | 4 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(1): Show | 4 | HG02145.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.3025-587A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450478 | ||||||
| chr12:22450562
|
C | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.3025-671G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450562 | ||||||
| chr12:22450772
|
G | C | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3025-881C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450772 | ||||||
| chr12:22450785
|
C | A | 17 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(14): Show | 19 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.3025-894G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450785 | ||||||
| chr12:22450847
|
C | T | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.3025-956G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450847 | ||||||
| chr12:22450958
|
C | T | 5 | a0001c0003t0003g0008a0001c0003t0003g0155a0001c0003t0007g0153others(2): Show | 6 | HG02559.hp2 HG02965.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.3025-1067G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450958 | ||||||
| chr12:22450985
|
T | C | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02896.hp2 others(11): Show |
intron_variant | MODIFIER | c.3025-1094A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22450985 | ||||||
| chr12:22451343
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3025-1452C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22451343 | ||||||
| chr12:22451677
|
A | G | 1 | a0001c0001t0001g0116 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3025-1786T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22451677 | ||||||
| chr12:22451758
|
T | C | 2 | a0001c0003t0007g0153a0001c0003t0007g0154 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3025-1867A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22451758 | ||||||
| chr12:22452144
|
A | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.3024+1752T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452144 | ||||||
| chr12:22452240
|
A | G | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02896.hp2 others(10): Show |
intron_variant | MODIFIER | c.3024+1656T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452240 | ||||||
| chr12:22452243
|
C | G | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.3024+1653G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452243 | ||||||
| chr12:22452450
|
G | T | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.3024+1446C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452450 | ||||||
| chr12:22452690
|
TAAACTAT others(6): Show |
T | 1 | a0001c0002t0001g0171 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3024+1193_3024+120 others(17): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452690 | ||||||
| chr12:22452737
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3024+1159A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22452737 | ||||||
| chr12:22453082
|
T | C | 1 | a0001c0002t0001g0182 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.3024+814A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453082 | ||||||
| chr12:22453176
|
T | C | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.3024+720A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453176 | ||||||
| chr12:22453526
|
C | G | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.3024+370G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453526 | ||||||
| chr12:22453704
|
G | T | 1 | a0001c0001t0001g0087 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3024+192C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453704 | ||||||
| chr12:22453804
|
G | C | 54 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(51): Show | 55 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(52): Show |
intron_variant | MODIFIER | c.3024+92C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453804 | ||||||
| chr12:22453823
|
G | A | 5 | a0001c0001t0003g0134a0001c0001t0003g0135a0001c0001t0003g0140others(2): Show | 5 | HG01891.hp2 HG02145.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.3024+73C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453823 | ||||||
| chr12:22453866
|
G | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3024+30C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | 22453866 | ||||||
| chr12:22454060
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2878-18C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454060 | ||||||
| chr12:22454299
|
A | G | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2878-257T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454299 | ||||||
| chr12:22454569
|
AT | A | 123 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(120): Show | 130 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(127): Show |
intron_variant | MODIFIER | c.2878-528delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454569 | ||||||
| chr12:22454680
|
T | G | 4 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0019others(1): Show | 5 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.2878-638A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454680 | ||||||
| chr12:22454885
|
T | C | 128 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(125): Show | 135 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.2878-843A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454885 | ||||||
| chr12:22454896
|
G | C | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2878-854C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22454896 | ||||||
| chr12:22455292
|
G | A | 1 | a0001c0002t0001g0165 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.2878-1250C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455292 | ||||||
| chr12:22455422
|
T | C | 2 | a0001c0003t0001g0149a0001c0003t0001g0150 | 2 | HG02280.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2878-1380A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455422 | ||||||
| chr12:22455668
|
G | A | 1 | a0001c0001t0006g0129 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2877+1303C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455668 | ||||||
| chr12:22455728
|
A | T | 1 | a0001c0001t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2877+1243T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455728 | ||||||
| chr12:22455841
|
T | C | 3 | a0001c0002t0001g0053a0001c0002t0001g0054a0001c0002t0001g0055 | 3 | HG01243.hp2 HG02622.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.2877+1130A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455841 | ||||||
| chr12:22455871
|
G | A | 7 | a0001c0002t0001g0053a0001c0002t0001g0054a0001c0002t0001g0055others(4): Show | 7 | HG00609.hp2 HG00621.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.2877+1100C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455871 | ||||||
| chr12:22455967
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2877+1004C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22455967 | ||||||
| chr12:22456130
|
G | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02896.hp2 others(10): Show |
intron_variant | MODIFIER | c.2877+841C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456130 | ||||||
| chr12:22456358
|
T | C | 1 | a0001c0003t0001g0152 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2877+613A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456358 | ||||||
| chr12:22456572
|
C | T | 1 | a0001c0001t0002g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2877+399G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456572 | ||||||
| chr12:22456603
|
T | C | 2 | a0001c0002t0001g0176a0001c0002t0001g0177 | 2 | NA18959.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.2877+368A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456603 | ||||||
| chr12:22456616
|
G | A | 24 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(21): Show | 25 | HG00423.hp2 HG01891.hp2 HG02145.hp1 others(22): Show |
intron_variant | MODIFIER | c.2877+355C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456616 | ||||||
| chr12:22456697
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02896.hp2 others(10): Show |
intron_variant | MODIFIER | c.2877+274C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 25/26 | chr12 | 22456697 | ||||||
| chr12:22457335
|
A | G | 1 | a0001c0001t0002g0003 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2687-174T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22457335 | ||||||
| chr12:22457349
|
G | T | 1 | a0001c0001t0002g0003 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2687-188C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22457349 | ||||||
| chr12:22457748
|
C | CAT | 7 | a0001c0001t0011g0034a0001c0001t0014g0037a0001c0002t0001g0162others(4): Show | 7 | HG01981.hp2 HG02145.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.2687-589_2687-588d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22457748 | ||||||
| chr12:22458134
|
C | T | 2 | a0001c0001t0001g0093a0001c0001t0011g0034 | 2 | HG01175.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.2686+350G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22458134 | ||||||
| chr12:22458142
|
G | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2686+342C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22458142 | ||||||
| chr12:22458208
|
C | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2686+276G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 24/26 | chr12 | 22458208 | ||||||
| chr12:22459155
|
A | C | 1 | a0001c0002t0001g0171 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.2584+337T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 23/26 | chr12 | 22459155 | ||||||
| chr12:22459345
|
A | G | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2584+147T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 23/26 | chr12 | 22459345 | ||||||
| chr12:22459357
|
CA | C | 12 | a0001c0001t0001g0041a0001c0001t0001g0086a0001c0001t0001g0088others(9): Show | 12 | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.2584+134delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 23/26 | chr12 | 22459357 | ||||||
| chr12:22459394
|
A | G | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2584+98T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 23/26 | chr12 | 22459394 | ||||||
| chr12:22459401
|
A | C | 2 | a0001c0003t0003g0008a0001c0003t0003g0155 | 3 | HG02965.hp1 HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2584+91T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 23/26 | chr12 | 22459401 | ||||||
| chr12:22459573
|
A | G | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.2534-31T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22459573 | ||||||
| chr12:22459907
|
T | C | 13 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(10): Show | 14 | HG00423.hp2 HG02145.hp2 HG02647.hp1 others(11): Show |
intron_variant | MODIFIER | c.2534-365A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22459907 | ||||||
| chr12:22460312
|
G | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2534-770C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460312 | ||||||
| chr12:22460468
|
CTTAAA | C | 12 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(9): Show | 12 | HG01891.hp2 HG02145.hp1 HG02896.hp2 others(9): Show |
intron_variant | MODIFIER | c.2534-931_2534-927d others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460468 | ||||||
| chr12:22460754
|
A | AT | 17 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(14): Show | 19 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.2534-1213dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460754 | ||||||
| chr12:22460810
|
C | G | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2534-1268G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460810 | ||||||
| chr12:22460884
|
T | C | 4 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(1): Show | 4 | HG02145.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.2534-1342A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460884 | ||||||
| chr12:22460886
|
T | A | 1 | a0001c0002t0001g0074 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2534-1344A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22460886 | ||||||
| chr12:22461318
|
T | C | 1 | a0001c0001t0001g0101 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2534-1776A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461318 | ||||||
| chr12:22461332
|
A | G | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.2534-1790T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461332 | ||||||
| chr12:22461358
|
T | C | 1 | a0001c0002t0001g0061 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2534-1816A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461358 | ||||||
| chr12:22461377
|
C | T | 13 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(10): Show | 14 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2534-1835G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461377 | ||||||
| chr12:22461381
|
A | C | 10 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(7): Show | 12 | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.2534-1839T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461381 | ||||||
| chr12:22461495
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2534-1953A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461495 | ||||||
| chr12:22461713
|
T | G | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2534-2171A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461713 | ||||||
| chr12:22461965
|
C | CT | 70 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(67): Show | 76 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(73): Show |
intron_variant | MODIFIER | c.2534-2424dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22461965 | ||||||
| chr12:22462156
|
A | G | 25 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(22): Show | 26 | HG00423.hp2 HG01891.hp2 HG02145.hp1 others(23): Show |
intron_variant | MODIFIER | c.2534-2614T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22462156 | ||||||
| chr12:22462230
|
C | T | 184 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(181): Show | 194 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.2534-2688G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22462230 | ||||||
| chr12:22462807
|
C | T | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2534-3265G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22462807 | ||||||
| chr12:22463124
|
CACCT | C | 4 | a0001c0001t0002g0023a0001c0001t0002g0028a0001c0001t0002g0029others(1): Show | 4 | HG00738.hp1 HG01175.hp2 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.2534-3586_2534-358 others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463124 | ||||||
| chr12:22463185
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2534-3643C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463185 | ||||||
| chr12:22463266
|
C | A | 2 | a0001c0001t0001g0106a0001c0001t0001g0109 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.2534-3724G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463266 | ||||||
| chr12:22463322
|
C | T | 1 | a0001c0001t0011g0034 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2534-3780G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463322 | ||||||
| chr12:22463633
|
G | A | 2 | a0001c0001t0011g0034a0001c0001t0012g0035 | 2 | HG02145.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.2534-4091C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463633 | ||||||
| chr12:22463710
|
T | C | 1 | a0001c0001t0006g0136 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2534-4168A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22463710 | ||||||
| chr12:22464406
|
G | A | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2534-4864C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22464406 | ||||||
| chr12:22464430
|
A | T | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2534-4888T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22464430 | ||||||
| chr12:22464643
|
G | A | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2533+5066C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22464643 | ||||||
| chr12:22464664
|
G | A | 1 | a0001c0002t0001g0043 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2533+5045C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22464664 | ||||||
| chr12:22464756
|
A | T | 1 | a0001c0001t0004g0016 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2533+4953T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22464756 | ||||||
| chr12:22465170
|
G | A | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2533+4539C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465170 | ||||||
| chr12:22465250
|
A | C | 1 | a0001c0002t0001g0064 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2533+4459T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465250 | ||||||
| chr12:22465589
|
G | A | 66 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(63): Show | 71 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(68): Show |
intron_variant | MODIFIER | c.2533+4120C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465589 | ||||||
| chr12:22465671
|
G | T | 128 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(125): Show | 135 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.2533+4038C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465671 | ||||||
| chr12:22465851
|
C | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2533+3858G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465851 | ||||||
| chr12:22465854
|
A | T | 25 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(22): Show | 26 | HG00423.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.2533+3855T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22465854 | ||||||
| chr12:22466076
|
T | C | 1 | a0001c0001t0002g0021 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2533+3633A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22466076 | ||||||
| chr12:22466293
|
G | A | 1 | a0001c0001t0001g0118 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2533+3416C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22466293 | ||||||
| chr12:22466304
|
TA | T | 25 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(22): Show | 29 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.2533+3404delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22466304 | ||||||
| chr12:22467181
|
G | GT | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2533+2527dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467181 | ||||||
| chr12:22467246
|
T | C | 2 | a0001c0001t0001g0119a0001c0001t0001g0124 | 2 | HG01261.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.2533+2463A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467246 | ||||||
| chr12:22467287
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2533+2422C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467287 | ||||||
| chr12:22467382
|
G | A | 1 | a0001c0002t0001g0064 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2533+2327C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467382 | ||||||
| chr12:22467533
|
G | C | 1 | a0001c0001t0001g0122 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2533+2176C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467533 | ||||||
| chr12:22467819
|
T | C | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2533+1890A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467819 | ||||||
| chr12:22467886
|
A | G | 1 | a0001c0001t0001g0075 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2533+1823T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22467886 | ||||||
| chr12:22468070
|
C | CT | 17 | a0001c0001t0001g0106a0001c0001t0001g0109a0001c0001t0003g0133others(14): Show | 17 | HG01257.hp2 HG01258.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2533+1638dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468070 | ||||||
| chr12:22468134
|
T | C | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2533+1575A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468134 | ||||||
| chr12:22468195
|
A | C | 16 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(13): Show | 18 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.2533+1514T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468195 | ||||||
| chr12:22468346
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2533+1363C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468346 | ||||||
| chr12:22468491
|
T | C | 2 | a0001c0002t0002g0031a0001c0002t0002g0032 | 2 | HG01255.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.2533+1218A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468491 | ||||||
| chr12:22468638
|
T | C | 3 | a0001c0001t0001g0127a0001c0001t0002g0012a0001c0001t0002g0013 | 3 | HG02615.hp2 HG02895.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2533+1071A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468638 | ||||||
| chr12:22468909
|
C | T | 1 | a0001c0002t0001g0172 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2533+800G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468909 | ||||||
| chr12:22468966
|
A | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2533+743T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468966 | ||||||
| chr12:22468988
|
C | T | 16 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(13): Show | 18 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.2533+721G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22468988 | ||||||
| chr12:22469096
|
C | A | 4 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0019others(1): Show | 5 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.2533+613G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22469096 | ||||||
| chr12:22469239
|
A | T | 3 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0110 | 3 | HG00323.hp2 HG02135.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.2533+470T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22469239 | ||||||
| chr12:22469385
|
A | C | 2 | a0001c0002t0001g0071a0001c0002t0001g0142 | 2 | HG02809.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2533+324T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22469385 | ||||||
| chr12:22469419
|
A | C | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.2533+290T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 22/26 | chr12 | 22469419 | ||||||
| chr12:22469918
|
T | C | 1 | a0001c0001t0001g0114 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2447-123A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22469918 | ||||||
| chr12:22470118
|
C | T | 2 | a0001c0003t0001g0149a0001c0003t0001g0150 | 2 | HG02280.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2447-323G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22470118 | ||||||
| chr12:22470195
|
C | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2447-400G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22470195 | ||||||
| chr12:22470463
|
C | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2446+361G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22470463 | ||||||
| chr12:22470600
|
T | C | 1 | a0001c0002t0001g0128 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2446+224A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22470600 | ||||||
| chr12:22470636
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2446+188C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 21/26 | chr12 | 22470636 | ||||||
| chr12:22471002
|
A | G | 1 | a0001c0001t0016g0089 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2359-91T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 20/26 | chr12 | 22471002 | ||||||
| chr12:22471198
|
C | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2358+201G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 20/26 | chr12 | 22471198 | ||||||
| chr12:22471273
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2358+126A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 20/26 | chr12 | 22471273 | ||||||
| chr12:22471347
|
AAAT | A | 4 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0126others(1): Show | 4 | HG01243.hp1 HG02258.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2358+49_2358+51del others(3): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 20/26 | chr12 | 22471347 | ||||||
| chr12:22471756
|
G | T | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2268+211C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 19/26 | chr12 | 22471756 | ||||||
| chr12:22471820
|
T | A | 1 | a0001c0004t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.2268+147A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 19/26 | chr12 | 22471820 | ||||||
| chr12:22472132
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2170-67A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 18/26 | chr12 | 22472132 | ||||||
| chr12:22472146
|
A | G | 1 | a0001c0002t0001g0076 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2170-81T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 18/26 | chr12 | 22472146 | ||||||
| chr12:22472201
|
T | TA | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2169+84dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 18/26 | chr12 | 22472201 | ||||||
| chr12:22472406
|
A | G | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2108-59T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472406 | ||||||
| chr12:22472481
|
A | C | 1 | a0001c0001t0003g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2108-134T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472481 | ||||||
| chr12:22472513
|
C | T | 39 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(36): Show | 41 | HG00423.hp2 HG01168.hp1 HG01169.hp2 others(38): Show |
intron_variant | MODIFIER | c.2108-166G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472513 | ||||||
| chr12:22472516
|
G | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2108-169C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472516 | ||||||
| chr12:22472528
|
G | A | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2108-181C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472528 | ||||||
| chr12:22472643
|
A | G | 1 | a0001c0001t0013g0036 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2107+101T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472643 | ||||||
| chr12:22472727
|
A | G | 66 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(63): Show | 71 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(68): Show |
intron_variant | MODIFIER | c.2107+17T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 17/26 | chr12 | 22472727 | ||||||
| chr12:22473099
|
T | C | 14 | a0001c0002t0001g0053a0001c0002t0001g0054a0001c0002t0001g0055others(11): Show | 14 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.2044-292A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473099 | ||||||
| chr12:22473137
|
T | C | 2 | a0001c0001t0001g0040a0001c0001t0001g0104 | 2 | HG00099.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.2044-330A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473137 | ||||||
| chr12:22473364
|
C | T | 1 | a0001c0001t0011g0034 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2044-557G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473364 | ||||||
| chr12:22473702
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2044-895C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473702 | ||||||
| chr12:22473805
|
C | A | 2 | a0001c0001t0006g0131a0001c0001t0006g0132 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.2043+946G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473805 | ||||||
| chr12:22473856
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2043+895A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473856 | ||||||
| chr12:22473897
|
A | G | 12 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(9): Show | 12 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2043+854T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473897 | ||||||
| chr12:22473909
|
T | A | 16 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(13): Show | 18 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.2043+842A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473909 | ||||||
| chr12:22473990
|
C | T | 32 | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0065others(29): Show | 35 | HG00323.hp1 HG00423.hp1 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.2043+761G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22473990 | ||||||
| chr12:22474060
|
A | G | 12 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(9): Show | 13 | HG00423.hp2 HG02145.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.2043+691T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474060 | ||||||
| chr12:22474100
|
A | T | 1 | a0001c0003t0003g0008 | 2 | HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2043+651T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474100 | ||||||
| chr12:22474288
|
A | G | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2043+463T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474288 | ||||||
| chr12:22474351
|
TACTAC | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2043+395_2043+399d others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474351 | ||||||
| chr12:22474366
|
TCA | T | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2043+383_2043+384d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474366 | ||||||
| chr12:22474378
|
T | C | 1 | a0001c0004t0001g0048 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2043+373A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 16/26 | chr12 | 22474378 | ||||||
| chr12:22475204
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1903-313C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475204 | ||||||
| chr12:22475460
|
T | C | 1 | a0001c0001t0001g0125 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1903-569A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475460 | ||||||
| chr12:22475578
|
C | T | 1 | a0001c0002t0001g0067 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1903-687G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475578 | ||||||
| chr12:22475646
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1903-755A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475646 | ||||||
| chr12:22475830
|
A | G | 4 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(1): Show | 4 | HG02145.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1903-939T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475830 | ||||||
| chr12:22475957
|
C | A | 15 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(12): Show | 17 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1903-1066G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475957 | ||||||
| chr12:22475957
|
C | G | 1 | a0001c0002t0001g0062 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1903-1066G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475957 | ||||||
| chr12:22475977
|
A | G | 15 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(12): Show | 17 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1903-1086T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22475977 | ||||||
| chr12:22476204
|
C | A | 1 | a0001c0001t0004g0019 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1903-1313G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476204 | ||||||
| chr12:22476282
|
ACAACACT others(25): Show |
A | 1 | a0001c0001t0003g0133 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1903-1423_1903-139 others(36): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476282 | ||||||
| chr12:22476535
|
G | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1903-1644C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476535 | ||||||
| chr12:22476582
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1903-1691T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476582 | ||||||
| chr12:22476617
|
A | G | 1 | a0001c0001t0004g0019 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1902+1696T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476617 | ||||||
| chr12:22476755
|
A | G | 2 | a0001c0002t0001g0081a0001c0002t0001g0082 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1902+1558T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22476755 | ||||||
| chr12:22477018
|
C | T | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1902+1295G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477018 | ||||||
| chr12:22477021
|
C | G | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1902+1292G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477021 | ||||||
| chr12:22477068
|
T | C | 1 | a0001c0002t0001g0071 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1902+1245A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477068 | ||||||
| chr12:22477292
|
C | G | 25 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(22): Show | 26 | HG00423.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1902+1021G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477292 | ||||||
| chr12:22477309
|
G | A | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.1902+1004C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477309 | ||||||
| chr12:22477354
|
C | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1902+959G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477354 | ||||||
| chr12:22477423
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0033 | 4 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.1902+890C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477423 | ||||||
| chr12:22477585
|
G | A | 2 | a0001c0002t0001g0179a0001c0002t0001g0181 | 2 | HG03704.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.1902+728C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477585 | ||||||
| chr12:22477785
|
T | C | 16 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0011others(13): Show | 18 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.1902+528A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477785 | ||||||
| chr12:22477840
|
A | G | 1 | a0001c0002t0001g0058 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1902+473T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477840 | ||||||
| chr12:22477962
|
C | T | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1902+351G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22477962 | ||||||
| chr12:22478011
|
TCACA | T | 2 | a0001c0003t0007g0153a0001c0003t0007g0154 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1902+298_1902+301d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22478011 | ||||||
| chr12:22478025
|
ACACT | A | 5 | a0001c0001t0004g0002a0001c0001t0004g0016a0001c0001t0004g0017others(2): Show | 6 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1902+284_1902+287d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22478025 | ||||||
| chr12:22478029
|
T | A | 10 | a0001c0001t0012g0035a0001c0001t0013g0036a0001c0004t0001g0005others(7): Show | 11 | HG00423.hp2 HG02723.hp2 HG03942.hp2 others(8): Show |
intron_variant | MODIFIER | c.1902+284A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22478029 | ||||||
| chr12:22478235
|
T | A | 4 | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(1): Show | 4 | HG02723.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1902+78A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 15/26 | chr12 | 22478235 | ||||||
| chr12:22478642
|
T | C | 1 | a0001c0002t0001g0058 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1738-165A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478642 | ||||||
| chr12:22478715
|
G | A | 2 | a0001c0003t0001g0147a0001c0003t0001g0148 | 2 | HG02572.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1738-238C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478715 | ||||||
| chr12:22478837
|
C | T | 1 | a0001c0005t0001g0166 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.1738-360G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478837 | ||||||
| chr12:22478864
|
G | GA | 16 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0086others(13): Show | 16 | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.1738-388dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478864 | ||||||
| chr12:22478970
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1738-493C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478970 | ||||||
| chr12:22478972
|
G | A | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1738-495C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22478972 | ||||||
| chr12:22479078
|
A | AT | 6 | a0001c0001t0001g0095a0001c0001t0011g0034a0001c0001t0012g0035others(3): Show | 6 | HG01255.hp1 HG01516.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.1738-602dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479078 | ||||||
| chr12:22479273
|
C | A | 1 | a0001c0001t0001g0108 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1738-796G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479273 | ||||||
| chr12:22479321
|
G | A | 2 | a0001c0002t0001g0054a0001c0002t0001g0055 | 2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1738-844C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479321 | ||||||
| chr12:22479344
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1738-867C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479344 | ||||||
| chr12:22479393
|
A | T | 2 | a0001c0001t0001g0101a0001c0001t0004g0011 | 2 | HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1738-916T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479393 | ||||||
| chr12:22479527
|
G | A | 1 | a0001c0001t0001g0096 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1738-1050C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479527 | ||||||
| chr12:22479940
|
A | T | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1738-1463T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479940 | ||||||
| chr12:22479949
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1738-1472T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22479949 | ||||||
| chr12:22480291
|
GCA | G | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1738-1816_1738-181 others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480291 | ||||||
| chr12:22480608
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1737+1949C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480608 | ||||||
| chr12:22480795
|
T | C | 2 | a0001c0001t0001g0069a0001c0001t0001g0080 | 2 | HG01934.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.1737+1762A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480795 | ||||||
| chr12:22480803
|
A | AT | 16 | a0001c0001t0001g0125a0001c0001t0001g0127a0001c0001t0001g0160others(13): Show | 17 | HG00738.hp1 HG01168.hp2 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.1737+1753dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480803 | ||||||
| chr12:22480820
|
A | T | 5 | a0001c0004t0001g0005a0001c0004t0001g0048a0001c0004t0001g0049others(2): Show | 6 | HG00423.hp2 NA18961.hp1 NA18995.hp1 others(3): Show |
intron_variant | MODIFIER | c.1737+1737T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480820 | ||||||
| chr12:22480962
|
G | C | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1737+1595C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22480962 | ||||||
| chr12:22481096
|
T | G | 1 | a0001c0001t0001g0118 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1737+1461A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481096 | ||||||
| chr12:22481139
|
C | T | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1737+1418G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481139 | ||||||
| chr12:22481367
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1737+1190A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481367 | ||||||
| chr12:22481368
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1737+1189G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481368 | ||||||
| chr12:22481621
|
A | G | 1 | a0001c0001t0006g0130 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1737+936T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481621 | ||||||
| chr12:22481631
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1737+926C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481631 | ||||||
| chr12:22481649
|
C | CT | 19 | a0001c0001t0001g0042a0001c0001t0001g0101a0001c0001t0002g0012others(16): Show | 20 | HG00423.hp2 HG01255.hp1 HG02148.hp2 others(17): Show |
intron_variant | MODIFIER | c.1737+907dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481649 | ||||||
| chr12:22481649
|
CT | C | 19 | a0001c0001t0001g0007a0001c0001t0002g0003a0001c0001t0002g0021others(16): Show | 22 | HG00099.hp2 HG00738.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.1737+907delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481649 | ||||||
| chr12:22481672
|
T | G | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1737+885A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481672 | ||||||
| chr12:22481798
|
A | AT | 30 | a0001c0001t0001g0110a0001c0001t0001g0190a0001c0001t0003g0133others(27): Show | 31 | HG00423.hp2 HG01891.hp2 HG02109.hp1 others(28): Show |
intron_variant | MODIFIER | c.1737+758dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481798 | ||||||
| chr12:22481798
|
AT | A | 13 | a0001c0001t0001g0100a0001c0001t0001g0114a0001c0001t0002g0003others(10): Show | 14 | HG00621.hp1 HG00738.hp1 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.1737+758delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481798 | ||||||
| chr12:22481957
|
G | T | 70 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(67): Show | 76 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(73): Show |
intron_variant | MODIFIER | c.1737+600C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22481957 | ||||||
| chr12:22482005
|
G | C | 4 | a0001c0001t0003g0133a0001c0001t0003g0139a0001c0001t0003g0143others(1): Show | 4 | HG02896.hp2 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1737+552C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22482005 | ||||||
| chr12:22482104
|
T | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1737+453A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22482104 | ||||||
| chr12:22482140
|
G | C | 1 | a0002c0007t0001g0169 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1737+417C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22482140 | ||||||
| chr12:22482219
|
C | T | 1 | a0001c0001t0001g0118 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1737+338G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 14/26 | chr12 | 22482219 | ||||||
| chr12:22482783
|
C | T | 1 | a0001c0001t0004g0020 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1551-40G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22482783 | ||||||
| chr12:22483200
|
C | T | 1 | a0001c0001t0001g0113 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1551-457G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483200 | ||||||
| chr12:22483628
|
G | A | 5 | a0001c0001t0004g0002a0001c0001t0004g0016a0001c0001t0004g0017others(2): Show | 6 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1551-885C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483628 | ||||||
| chr12:22483648
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1551-905C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483648 | ||||||
| chr12:22483668
|
A | G | 1 | a0001c0002t0001g0074 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1551-925T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483668 | ||||||
| chr12:22483717
|
T | G | 1 | a0001c0002t0001g0171 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1551-974A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483717 | ||||||
| chr12:22483749
|
A | G | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1550+948T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483749 | ||||||
| chr12:22483948
|
G | A | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1550+749C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22483948 | ||||||
| chr12:22484020
|
A | C | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1550+677T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484020 | ||||||
| chr12:22484086
|
A | C | 27 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0003g0133others(24): Show | 28 | HG00423.hp2 HG01891.hp2 HG02109.hp1 others(25): Show |
intron_variant | MODIFIER | c.1550+611T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484086 | ||||||
| chr12:22484155
|
C | T | 1 | a0001c0002t0001g0084 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1550+542G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484155 | ||||||
| chr12:22484197
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1550+500A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484197 | ||||||
| chr12:22484415
|
A | G | 1 | a0001c0001t0005g0079 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1550+282T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484415 | ||||||
| chr12:22484534
|
G | GT | 35 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0003g0133others(32): Show | 38 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(35): Show |
intron_variant | MODIFIER | c.1550+162dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484534 | ||||||
| chr12:22484673
|
C | G | 1 | a0001c0002t0001g0161 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1550+24G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 13/26 | chr12 | 22484673 | ||||||
| chr12:22484933
|
C | A | 64 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(61): Show | 69 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(66): Show |
intron_variant | MODIFIER | c.1359-45G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22484933 | ||||||
| chr12:22485034
|
G | A | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1359-146C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485034 | ||||||
| chr12:22485164
|
C | T | 1 | a0001c0002t0001g0184 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1359-276G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485164 | ||||||
| chr12:22485171
|
C | T | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.1359-283G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485171 | ||||||
| chr12:22485197
|
C | T | 1 | a0001c0002t0001g0061 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1359-309G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485197 | ||||||
| chr12:22485203
|
T | TA | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1359-316dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485203 | ||||||
| chr12:22485330
|
G | C | 1 | a0001c0001t0001g0101 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1359-442C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485330 | ||||||
| chr12:22485386
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0106a0001c0001t0001g0109 | 4 | HG01169.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1359-498C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485386 | ||||||
| chr12:22485913
|
A | AT | 27 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0040others(24): Show | 28 | HG00099.hp1 HG00738.hp2 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.1359-1026dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22485913 | ||||||
| chr12:22486023
|
A | G | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1359-1135T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486023 | ||||||
| chr12:22486122
|
T | C | 12 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(9): Show | 12 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1359-1234A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486122 | ||||||
| chr12:22486162
|
T | C | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1359-1274A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486162 | ||||||
| chr12:22486186
|
G | GA | 21 | a0001c0001t0001g0039a0001c0001t0001g0086a0001c0001t0001g0104others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02148.hp1 others(18): Show |
intron_variant | MODIFIER | c.1359-1299dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486186 | ||||||
| chr12:22486186
|
GA | G | 47 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(44): Show | 52 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(49): Show |
intron_variant | MODIFIER | c.1359-1299delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486186 | ||||||
| chr12:22486199
|
A | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0106a0001c0001t0001g0109 | 4 | HG01169.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1359-1311T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486199 | ||||||
| chr12:22486232
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1359-1344C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486232 | ||||||
| chr12:22486537
|
T | C | 1 | a0001c0002t0001g0065 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1359-1649A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486537 | ||||||
| chr12:22486655
|
G | A | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.1359-1767C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486655 | ||||||
| chr12:22486735
|
A | G | 4 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0123others(1): Show | 4 | HG01168.hp2 HG01255.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1359-1847T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486735 | ||||||
| chr12:22486756
|
G | A | 184 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(181): Show | 194 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.1359-1868C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486756 | ||||||
| chr12:22486895
|
A | C | 1 | a0001c0003t0001g0152 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1359-2007T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486895 | ||||||
| chr12:22486991
|
C | T | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1359-2103G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22486991 | ||||||
| chr12:22487055
|
T | C | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1359-2167A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487055 | ||||||
| chr12:22487145
|
A | G | 1 | a0001c0001t0002g0027 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1359-2257T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487145 | ||||||
| chr12:22487191
|
C | T | 13 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0011g0034others(10): Show | 14 | HG00423.hp2 HG02145.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1359-2303G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487191 | ||||||
| chr12:22487196
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1359-2308A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487196 | ||||||
| chr12:22487317
|
G | T | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1359-2429C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487317 | ||||||
| chr12:22487366
|
AC | A | 13 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(10): Show | 15 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1359-2479delG | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487366 | ||||||
| chr12:22487367
|
C | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1359-2479G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487367 | ||||||
| chr12:22487403
|
A | T | 1 | a0001c0001t0001g0118 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1359-2515T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487403 | ||||||
| chr12:22487508
|
T | C | 5 | a0001c0003t0003g0008a0001c0003t0003g0155a0001c0003t0007g0153others(2): Show | 6 | HG02559.hp2 HG02965.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1358+2615A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487508 | ||||||
| chr12:22487528
|
T | C | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1358+2595A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487528 | ||||||
| chr12:22487607
|
A | C | 63 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(60): Show | 68 | HG00423.hp2 HG00738.hp1 HG01175.hp2 others(65): Show |
intron_variant | MODIFIER | c.1358+2516T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487607 | ||||||
| chr12:22487640
|
G | C | 2 | a0001c0001t0001g0086a0001c0001t0001g0093 | 2 | HG01175.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.1358+2483C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487640 | ||||||
| chr12:22487645
|
A | G | 17 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0005g0006others(14): Show | 19 | HG00423.hp2 HG02145.hp2 HG02615.hp2 others(16): Show |
intron_variant | MODIFIER | c.1358+2478T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487645 | ||||||
| chr12:22487762
|
T | C | 1 | a0001c0002t0001g0064 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1358+2361A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487762 | ||||||
| chr12:22487787
|
C | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1358+2336G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487787 | ||||||
| chr12:22487930
|
T | C | 1 | a0001c0002t0001g0083 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1358+2193A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487930 | ||||||
| chr12:22487946
|
A | G | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1358+2177T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487946 | ||||||
| chr12:22487948
|
A | T | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.1358+2175T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22487948 | ||||||
| chr12:22488023
|
A | G | 1 | a0001c0001t0005g0077 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1358+2100T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488023 | ||||||
| chr12:22488153
|
C | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1358+1970G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488153 | ||||||
| chr12:22488288
|
G | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1358+1835C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488288 | ||||||
| chr12:22488294
|
C | T | 1 | a0001c0001t0001g0038 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1358+1829G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488294 | ||||||
| chr12:22488357
|
T | A | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1358+1766A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488357 | ||||||
| chr12:22488388
|
G | A | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1358+1735C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488388 | ||||||
| chr12:22488405
|
A | T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1358+1718T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488405 | ||||||
| chr12:22488452
|
TA | T | 2 | a0001c0001t0001g0092a0001c0001t0001g0094 | 2 | HG00733.hp1 HG00735.hp1 |
intron_variant | MODIFIER | c.1358+1670delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488452 | ||||||
| chr12:22488483
|
T | C | 13 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0011g0034others(10): Show | 14 | HG00423.hp2 HG02145.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1358+1640A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488483 | ||||||
| chr12:22488598
|
C | T | 1 | a0001c0001t0001g0118 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1358+1525G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488598 | ||||||
| chr12:22488782
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1358+1341G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488782 | ||||||
| chr12:22488875
|
C | CT | 12 | a0001c0001t0001g0127a0001c0001t0002g0003a0001c0001t0002g0021others(9): Show | 13 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(10): Show |
intron_variant | MODIFIER | c.1358+1247dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22488875 | ||||||
| chr12:22489120
|
C | T | 1 | a0001c0002t0001g0165 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1358+1003G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489120 | ||||||
| chr12:22489156
|
G | A | 12 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(9): Show | 13 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.1358+967C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489156 | ||||||
| chr12:22489197
|
T | C | 1 | a0001c0002t0008g0070 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1358+926A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489197 | ||||||
| chr12:22489242
|
C | T | 2 | a0001c0002t0002g0031a0001c0002t0002g0032 | 2 | HG01255.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.1358+881G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489242 | ||||||
| chr12:22489318
|
A | G | 12 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(9): Show | 13 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(10): Show |
intron_variant | MODIFIER | c.1358+805T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489318 | ||||||
| chr12:22489428
|
A | G | 2 | a0001c0002t0002g0031a0001c0002t0002g0032 | 2 | HG01255.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.1358+695T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489428 | ||||||
| chr12:22489741
|
T | A | 2 | a0001c0003t0001g0157a0001c0003t0001g0158 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1358+382A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489741 | ||||||
| chr12:22489867
|
C | T | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 70 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(67): Show |
intron_variant | MODIFIER | c.1358+256G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489867 | ||||||
| chr12:22489968
|
G | A | 14 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(11): Show | 15 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.1358+155C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489968 | ||||||
| chr12:22489987
|
G | A | 1 | a0001c0001t0002g0021 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1358+136C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22489987 | ||||||
| chr12:22490018
|
C | T | 1 | a0001c0001t0005g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1358+105G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22490018 | ||||||
| chr12:22490034
|
A | G | 1 | a0001c0002t0001g0056 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1358+89T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22490034 | ||||||
| chr12:22490035
|
C | T | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1358+88G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 12/26 | chr12 | 22490035 | ||||||
| chr12:22490334
|
C | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1263-116G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490334 | ||||||
| chr12:22490381
|
A | C | 27 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(24): Show | 28 | HG01168.hp1 HG01169.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.1263-163T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490381 | ||||||
| chr12:22490432
|
A | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1263-214T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490432 | ||||||
| chr12:22490498
|
G | C | 1 | a0001c0003t0001g0148 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1263-280C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490498 | ||||||
| chr12:22490502
|
GAATGA | G | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1263-289_1263-285d others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490502 | ||||||
| chr12:22490940
|
A | G | 1 | a0001c0001t0002g0022 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1263-722T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490940 | ||||||
| chr12:22490946
|
C | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1263-728G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22490946 | ||||||
| chr12:22491095
|
G | A | 1 | a0001c0001t0001g0116 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1263-877C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491095 | ||||||
| chr12:22491137
|
A | G | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1263-919T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491137 | ||||||
| chr12:22491162
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1263-944G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491162 | ||||||
| chr12:22491166
|
T | A | 1 | a0001c0001t0004g0020 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1263-948A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491166 | ||||||
| chr12:22491185
|
G | C | 1 | a0001c0001t0001g0090 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1263-967C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491185 | ||||||
| chr12:22491212
|
A | T | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1263-994T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491212 | ||||||
| chr12:22491256
|
C | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1263-1038G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491256 | ||||||
| chr12:22491419
|
A | G | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1263-1201T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491419 | ||||||
| chr12:22491568
|
T | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1263-1350A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491568 | ||||||
| chr12:22491718
|
G | C | 1 | a0001c0002t0001g0060 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1263-1500C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491718 | ||||||
| chr12:22491833
|
T | C | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1262+1390A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491833 | ||||||
| chr12:22491871
|
C | CA | 4 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0011g0034others(1): Show | 4 | HG02145.hp2 HG02615.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1262+1351dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491871 | ||||||
| chr12:22491878
|
C | A | 1 | a0001c0001t0013g0036 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1262+1345G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491878 | ||||||
| chr12:22491878
|
C | CA | 12 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(9): Show | 13 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(10): Show |
intron_variant | MODIFIER | c.1262+1344dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491878 | ||||||
| chr12:22491889
|
A | C | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1262+1334T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22491889 | ||||||
| chr12:22492150
|
T | C | 27 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(24): Show | 30 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(27): Show |
intron_variant | MODIFIER | c.1262+1073A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492150 | ||||||
| chr12:22492347
|
G | A | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1262+876C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492347 | ||||||
| chr12:22492477
|
T | C | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1262+746A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492477 | ||||||
| chr12:22492510
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1262+713C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492510 | ||||||
| chr12:22492553
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1262+670C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492553 | ||||||
| chr12:22492653
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1262+570C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492653 | ||||||
| chr12:22492834
|
T | C | 8 | a0001c0002t0001g0056a0001c0002t0001g0062a0001c0002t0001g0063others(5): Show | 8 | HG00099.hp2 HG00609.hp2 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1262+389A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492834 | ||||||
| chr12:22492940
|
T | C | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1262+283A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22492940 | ||||||
| chr12:22493059
|
A | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1262+164T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 11/26 | chr12 | 22493059 | ||||||
| chr12:22493364
|
A | G | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1148-27T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493364 | ||||||
| chr12:22493417
|
C | T | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1148-80G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493417 | ||||||
| chr12:22493495
|
T | C | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG01243.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1148-158A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493495 | ||||||
| chr12:22493515
|
T | C | 3 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0126 | 3 | HG01243.hp1 HG02258.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1148-178A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493515 | ||||||
| chr12:22493700
|
C | T | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1148-363G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493700 | ||||||
| chr12:22493914
|
A | C | 1 | a0001c0002t0001g0167 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1148-577T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493914 | ||||||
| chr12:22493918
|
C | A | 1 | a0001c0001t0005g0077 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1148-581G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493918 | ||||||
| chr12:22493921
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1148-584C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22493921 | ||||||
| chr12:22494000
|
C | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1148-663G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494000 | ||||||
| chr12:22494193
|
C | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1148-856G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494193 | ||||||
| chr12:22494246
|
C | A | 2 | a0001c0001t0001g0040a0001c0001t0001g0104 | 2 | HG00099.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1148-909G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494246 | ||||||
| chr12:22494307
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1148-970A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494307 | ||||||
| chr12:22494489
|
G | A | 1 | a0001c0002t0001g0061 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1148-1152C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494489 | ||||||
| chr12:22494634
|
G | T | 1 | a0001c0001t0004g0016 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1148-1297C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494634 | ||||||
| chr12:22494896
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0033 | 4 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.1148-1559G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494896 | ||||||
| chr12:22494922
|
G | T | 52 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(49): Show | 53 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(50): Show |
intron_variant | MODIFIER | c.1148-1585C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22494922 | ||||||
| chr12:22495114
|
A | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1148-1777T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495114 | ||||||
| chr12:22495283
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1148-1946C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495283 | ||||||
| chr12:22495330
|
A | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1148-1993T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495330 | ||||||
| chr12:22495525
|
C | G | 1 | a0001c0001t0011g0034 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1148-2188G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495525 | ||||||
| chr12:22495620
|
T | A | 1 | a0001c0002t0001g0186 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1148-2283A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495620 | ||||||
| chr12:22495659
|
T | C | 1 | a0001c0001t0003g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1148-2322A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495659 | ||||||
| chr12:22495753
|
T | C | 3 | a0001c0002t0001g0009a0001c0002t0001g0167a0001c0002t0001g0174 | 4 | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1148-2416A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495753 | ||||||
| chr12:22495941
|
G | A | 1 | a0001c0001t0001g0121 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1148-2604C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22495941 | ||||||
| chr12:22496015
|
A | G | 1 | a0001c0002t0001g0183 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1148-2678T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496015 | ||||||
| chr12:22496086
|
G | A | 2 | a0001c0002t0001g0180a0001c0002t0001g0186 | 2 | HG02135.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.1148-2749C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496086 | ||||||
| chr12:22496115
|
A | G | 4 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0019others(1): Show | 5 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.1148-2778T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496115 | ||||||
| chr12:22496301
|
T | C | 1 | a0001c0004t0001g0051 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.1148-2964A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496301 | ||||||
| chr12:22496399
|
A | G | 2 | a0001c0003t0001g0152a0001c0003t0009g0151 | 2 | HG02647.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1148-3062T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496399 | ||||||
| chr12:22496526
|
T | C | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.1148-3189A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496526 | ||||||
| chr12:22496821
|
A | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.1148-3484T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496821 | ||||||
| chr12:22496963
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0106a0001c0001t0001g0109 | 4 | HG01169.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1148-3626A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22496963 | ||||||
| chr12:22497000
|
G | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1148-3663C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497000 | ||||||
| chr12:22497073
|
G | C | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.1148-3736C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497073 | ||||||
| chr12:22497154
|
T | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1148-3817A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497154 | ||||||
| chr12:22497194
|
C | T | 62 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0002g0003others(59): Show | 66 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(63): Show |
intron_variant | MODIFIER | c.1148-3857G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497194 | ||||||
| chr12:22497414
|
CAAAT | C | 15 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(12): Show | 17 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1148-4081_1148-407 others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497414 | ||||||
| chr12:22497753
|
G | A | 1 | a0001c0001t0011g0034 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1148-4416C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497753 | ||||||
| chr12:22497898
|
GCACACAC others(7): Show |
G | 1 | a0001c0001t0013g0036 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1148-4575_1148-456 others(18): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497898 | ||||||
| chr12:22497907
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1148-4570A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
T | TAC | 50 | a0001c0001t0001g0007a0001c0001t0001g0039a0001c0001t0001g0040others(47): Show | 52 | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(49): Show |
intron_variant | MODIFIER | c.1148-4572_1148-457 others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
T | TACAC | 23 | a0001c0001t0001g0038a0001c0001t0001g0080a0001c0001t0001g0085others(20): Show | 23 | HG01255.hp1 HG01257.hp1 HG01261.hp1 others(20): Show |
intron_variant | MODIFIER | c.1148-4574_1148-457 others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
T | TACACAC | 3 | a0001c0002t0001g0009a0001c0002t0001g0128a0001c0002t0002g0032 | 4 | HG00099.hp2 HG00735.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1148-4576_1148-457 others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TAC | T | 13 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0123others(10): Show | 13 | HG00609.hp1 HG01168.hp2 HG01255.hp2 others(10): Show |
intron_variant | MODIFIER | c.1148-4572_1148-457 others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACAC | T | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1148-4574_1148-457 others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACAC | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1148-4576_1148-457 others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACACA others(1): Show |
T | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.1148-4578_1148-457 others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACACA others(3): Show |
T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1148-4580_1148-457 others(14): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACACA others(5): Show |
T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1148-4582_1148-457 others(16): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACACA others(7): Show |
T | 15 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.1148-4584_1148-457 others(18): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22497907
|
TACACACA others(11): Show |
T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1148-4588_1148-457 others(22): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22497907 | ||||||
| chr12:22498037
|
T | C | 1 | a0001c0001t0004g0018 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1148-4700A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498037 | ||||||
| chr12:22498188
|
G | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1148-4851C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498188 | ||||||
| chr12:22498368
|
G | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.1148-5031C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498368 | ||||||
| chr12:22498436
|
A | ATTCTATA others(10): Show |
1 | a0001c0001t0001g0097 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1148-5116_1148-510 others(21): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498436 | ||||||
| chr12:22498549
|
A | T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1148-5212T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498549 | ||||||
| chr12:22498575
|
A | G | 2 | a0001c0001t0002g0024a0001c0001t0002g0025 | 2 | NA18945.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.1148-5238T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498575 | ||||||
| chr12:22498679
|
G | A | 1 | a0001c0003t0001g0150 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1148-5342C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22498679 | ||||||
| chr12:22499436
|
C | T | 1 | a0001c0001t0005g0077 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1148-6099G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499436 | ||||||
| chr12:22499449
|
G | A | 1 | a0001c0002t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1148-6112C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499449 | ||||||
| chr12:22499507
|
G | C | 5 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(2): Show | 5 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1148-6170C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499507 | ||||||
| chr12:22499624
|
T | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1148-6287A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499624 | ||||||
| chr12:22499704
|
T | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1148-6367A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499704 | ||||||
| chr12:22499941
|
A | G | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1148-6604T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22499941 | ||||||
| chr12:22500107
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1147+6604G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22500107 | ||||||
| chr12:22500280
|
A | G | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1147+6431T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22500280 | ||||||
| chr12:22500663
|
G | A | 1 | a0001c0001t0001g0190 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1147+6048C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22500663 | ||||||
| chr12:22500723
|
TATA | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1147+5985_1147+598 others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22500723 | ||||||
| chr12:22500826
|
T | TC | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+5884_1147+588 others(5): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22500826 | ||||||
| chr12:22501121
|
T | C | 1 | a0001c0002t0001g0056 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1147+5590A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22501121 | ||||||
| chr12:22501378
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+5333G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22501378 | ||||||
| chr12:22501474
|
A | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1147+5237T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22501474 | ||||||
| chr12:22501880
|
C | T | 3 | a0001c0002t0001g0001a0001c0002t0001g0175a0001c0002t0015g0173 | 5 | HG01256.hp1 HG01258.hp2 HG02004.hp1 others(2): Show |
intron_variant | MODIFIER | c.1147+4831G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22501880 | ||||||
| chr12:22502044
|
CA | C | 6 | a0001c0001t0001g0088a0001c0002t0001g0081a0001c0002t0001g0082others(3): Show | 6 | HG02723.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1147+4666delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502044 | ||||||
| chr12:22502045
|
A | C | 7 | a0001c0004t0001g0005a0001c0004t0001g0047a0001c0004t0001g0048others(4): Show | 8 | HG00423.hp2 NA18960.hp1 NA18961.hp1 others(5): Show |
intron_variant | MODIFIER | c.1147+4666T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502045 | ||||||
| chr12:22502050
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+4661T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502050 | ||||||
| chr12:22502466
|
T | G | 1 | a0001c0001t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1147+4245A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502466 | ||||||
| chr12:22502501
|
A | G | 1 | a0001c0002t0001g0168 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.1147+4210T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502501 | ||||||
| chr12:22502502
|
G | A | 1 | a0001c0002t0001g0168 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.1147+4209C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502502 | ||||||
| chr12:22502568
|
T | A | 1 | a0001c0002t0015g0173 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1147+4143A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502568 | ||||||
| chr12:22502572
|
T | C | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.1147+4139A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502572 | ||||||
| chr12:22502609
|
C | T | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1147+4102G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502609 | ||||||
| chr12:22502852
|
G | A | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1147+3859C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502852 | ||||||
| chr12:22502887
|
G | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1147+3824C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22502887 | ||||||
| chr12:22503151
|
A | G | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1147+3560T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503151 | ||||||
| chr12:22503234
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1147+3477C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503234 | ||||||
| chr12:22503296
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+3415G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503296 | ||||||
| chr12:22503341
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+3370G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503341 | ||||||
| chr12:22503438
|
G | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1147+3273C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503438 | ||||||
| chr12:22503571
|
C | T | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1147+3140G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503571 | ||||||
| chr12:22503726
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+2985C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22503726 | ||||||
| chr12:22504135
|
C | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1147+2576G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504135 | ||||||
| chr12:22504217
|
T | A | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1147+2494A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504217 | ||||||
| chr12:22504304
|
CT | C | 60 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0022others(57): Show | 64 | HG00423.hp2 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.1147+2406delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504304 | ||||||
| chr12:22504312
|
T | C | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1147+2399A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504312 | ||||||
| chr12:22504368
|
C | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1147+2343G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504368 | ||||||
| chr12:22504374
|
T | C | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.1147+2337A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504374 | ||||||
| chr12:22504578
|
G | A | 1 | a0001c0001t0001g0086 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.1147+2133C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504578 | ||||||
| chr12:22504840
|
CAT | C | 30 | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0161others(27): Show | 33 | HG00323.hp1 HG00423.hp1 HG00733.hp2 others(30): Show |
intron_variant | MODIFIER | c.1147+1869_1147+187 others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504840 | ||||||
| chr12:22504956
|
G | A | 7 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0048others(4): Show | 8 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(5): Show |
intron_variant | MODIFIER | c.1147+1755C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504956 | ||||||
| chr12:22504956
|
G | C | 3 | a0001c0003t0007g0153a0001c0003t0007g0154a0001c0003t0007g0159 | 3 | HG02559.hp2 HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1147+1755C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504956 | ||||||
| chr12:22504961
|
G | A | 2 | a0001c0002t0001g0178a0001c0004t0001g0047 | 2 | NA19075.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.1147+1750C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504961 | ||||||
| chr12:22504988
|
A | G | 2 | a0001c0003t0001g0149a0001c0003t0001g0150 | 2 | HG02280.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1147+1723T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22504988 | ||||||
| chr12:22505162
|
A | T | 5 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0011others(2): Show | 5 | HG02486.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1147+1549T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505162 | ||||||
| chr12:22505252
|
TTC | T | 6 | a0001c0001t0002g0013a0001c0001t0004g0011a0001c0001t0004g0017others(3): Show | 6 | HG01168.hp1 HG02451.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1147+1457_1147+145 others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505252 | ||||||
| chr12:22505253
|
TC | T | 53 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0021others(50): Show | 58 | HG00423.hp2 HG01169.hp2 HG01256.hp2 others(55): Show |
intron_variant | MODIFIER | c.1147+1457delG | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505253 | ||||||
| chr12:22505254
|
C | CT | 5 | a0001c0002t0001g0009a0001c0002t0001g0061a0001c0002t0001g0167others(2): Show | 6 | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.1147+1456dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505254 | ||||||
| chr12:22505254
|
C | T | 9 | a0001c0001t0002g0023a0001c0001t0002g0028a0001c0001t0002g0029others(6): Show | 9 | HG00738.hp1 HG01175.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1147+1457G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505254 | ||||||
| chr12:22505254
|
CT | C | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1147+1456delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505254 | ||||||
| chr12:22505258
|
T | C | 1 | a0001c0002t0001g0175 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1147+1453A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505258 | ||||||
| chr12:22505259
|
T | C | 7 | a0001c0001t0001g0038a0001c0001t0001g0098a0001c0001t0001g0111others(4): Show | 7 | HG00738.hp2 HG01257.hp1 HG02004.hp2 others(4): Show |
intron_variant | MODIFIER | c.1147+1452A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505259 | ||||||
| chr12:22505374
|
A | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1147+1337T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505374 | ||||||
| chr12:22505413
|
C | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1147+1298G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505413 | ||||||
| chr12:22505451
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+1260T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505451 | ||||||
| chr12:22505641
|
T | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+1070A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505641 | ||||||
| chr12:22505661
|
C | A | 12 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(9): Show | 12 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1147+1050G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505661 | ||||||
| chr12:22505714
|
A | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+997T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505714 | ||||||
| chr12:22505731
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1147+980A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505731 | ||||||
| chr12:22505800
|
A | C | 4 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0123others(1): Show | 4 | HG01168.hp2 HG01255.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1147+911T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505800 | ||||||
| chr12:22505845
|
A | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1147+866T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505845 | ||||||
| chr12:22505862
|
T | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+849A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505862 | ||||||
| chr12:22505879
|
A | G | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1147+832T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505879 | ||||||
| chr12:22505927
|
T | TGGATTCC others(34): Show |
5 | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0093others(2): Show | 5 | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.1147+743_1147+783d others(43): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505927 | ||||||
| chr12:22505959
|
C | T | 3 | a0001c0001t0005g0006a0001c0001t0005g0078a0001c0001t0005g0079 | 4 | HG03139.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1147+752G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505959 | ||||||
| chr12:22505976
|
G | C | 1 | a0001c0002t0008g0070 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1147+735C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22505976 | ||||||
| chr12:22506008
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+703T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22506008 | ||||||
| chr12:22506029
|
T | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1147+682A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22506029 | ||||||
| chr12:22506229
|
G | A | 1 | a0001c0002t0001g0180 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1147+482C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22506229 | ||||||
| chr12:22506292
|
C | T | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1147+419G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22506292 | ||||||
| chr12:22506586
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.1147+125C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | 22506586 | ||||||
| chr12:22506995
|
C | A | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1039-176G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22506995 | ||||||
| chr12:22507128
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1039-309A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507128 | ||||||
| chr12:22507172
|
T | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-353A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507172 | ||||||
| chr12:22507177
|
T | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-358A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507177 | ||||||
| chr12:22507184
|
A | ATTTC | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-366_1039-365i others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507184 | ||||||
| chr12:22507250
|
C | A | 3 | a0001c0002t0001g0067a0001c0002t0001g0068a0001c0002t0001g0164 | 3 | HG01261.hp2 HG02300.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.1039-431G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507250 | ||||||
| chr12:22507298
|
G | A | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1039-479C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507298 | ||||||
| chr12:22507404
|
AG | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1039-586delC | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507404 | ||||||
| chr12:22507531
|
A | C | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1039-712T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507531 | ||||||
| chr12:22507624
|
C | A | 10 | a0001c0001t0001g0038a0001c0001t0001g0085a0001c0001t0001g0087others(7): Show | 10 | HG00323.hp2 HG00738.hp2 HG01257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1039-805G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507624 | ||||||
| chr12:22507637
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-818T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507637 | ||||||
| chr12:22507649
|
C | T | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1039-830G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507649 | ||||||
| chr12:22507772
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1039-953A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507772 | ||||||
| chr12:22507829
|
T | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1039-1010A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507829 | ||||||
| chr12:22507835
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1039-1016C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22507835 | ||||||
| chr12:22508207
|
T | G | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1039-1388A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508207 | ||||||
| chr12:22508245
|
C | T | 4 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0123others(1): Show | 4 | HG01168.hp2 HG01255.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1039-1426G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508245 | ||||||
| chr12:22508321
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-1502T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508321 | ||||||
| chr12:22508691
|
G | T | 5 | a0001c0003t0003g0008a0001c0003t0003g0155a0001c0003t0007g0153others(2): Show | 6 | HG02559.hp2 HG02965.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1039-1872C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508691 | ||||||
| chr12:22508871
|
C | CT | 14 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(11): Show | 16 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.1039-2053dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508871 | ||||||
| chr12:22508871
|
CT | C | 50 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(47): Show | 53 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(50): Show |
intron_variant | MODIFIER | c.1039-2053delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508871 | ||||||
| chr12:22508909
|
G | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1039-2090C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508909 | ||||||
| chr12:22508918
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-2099T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508918 | ||||||
| chr12:22508927
|
A | C | 3 | a0001c0001t0003g0140a0001c0001t0003g0141a0001c0001t0003g0145 | 3 | HG01891.hp2 HG02145.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1039-2108T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22508927 | ||||||
| chr12:22509130
|
G | A | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.1039-2311C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509130 | ||||||
| chr12:22509145
|
T | C | 53 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(50): Show | 54 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(51): Show |
intron_variant | MODIFIER | c.1039-2326A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509145 | ||||||
| chr12:22509166
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1039-2347G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509166 | ||||||
| chr12:22509169
|
C | G | 1 | a0001c0002t0001g0062 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1039-2350G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509169 | ||||||
| chr12:22509174
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1039-2355T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509174 | ||||||
| chr12:22509243
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1039-2424A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509243 | ||||||
| chr12:22509492
|
T | G | 4 | a0001c0002t0001g0009a0001c0002t0001g0167a0001c0002t0001g0168others(1): Show | 5 | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(2): Show |
intron_variant | MODIFIER | c.1039-2673A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509492 | ||||||
| chr12:22509512
|
G | A | 1 | a0001c0001t0004g0018 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1039-2693C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22509512 | ||||||
| chr12:22510033
|
C | T | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.1039-3214G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510033 | ||||||
| chr12:22510034
|
G | A | 27 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(24): Show | 28 | HG01168.hp1 HG01169.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.1039-3215C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510034 | ||||||
| chr12:22510153
|
T | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+3141A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510153 | ||||||
| chr12:22510258
|
G | A | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.1038+3036C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510258 | ||||||
| chr12:22510266
|
T | C | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.1038+3028A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510266 | ||||||
| chr12:22510310
|
G | GA | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+2983dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510310 | ||||||
| chr12:22510584
|
A | G | 1 | a0001c0002t0001g0055 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1038+2710T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510584 | ||||||
| chr12:22510591
|
A | G | 1 | a0001c0002t0001g0183 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1038+2703T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510591 | ||||||
| chr12:22510623
|
C | A | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1038+2671G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510623 | ||||||
| chr12:22510774
|
T | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+2520A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510774 | ||||||
| chr12:22510779
|
T | A | 1 | a0001c0002t0001g0162 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1038+2515A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510779 | ||||||
| chr12:22510997
|
C | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1038+2297G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22510997 | ||||||
| chr12:22511104
|
C | T | 72 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(69): Show | 78 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(75): Show |
intron_variant | MODIFIER | c.1038+2190G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511104 | ||||||
| chr12:22511122
|
C | G | 1 | a0001c0001t0013g0036 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1038+2172G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511122 | ||||||
| chr12:22511133
|
C | T | 1 | a0001c0002t0001g0165 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1038+2161G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511133 | ||||||
| chr12:22511173
|
GA | G | 53 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(50): Show | 57 | HG00423.hp2 HG00738.hp1 HG01175.hp2 others(54): Show |
intron_variant | MODIFIER | c.1038+2120delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511173 | ||||||
| chr12:22511274
|
T | A | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1038+2020A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511274 | ||||||
| chr12:22511289
|
A | T | 1 | a0001c0001t0001g0114 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1038+2005T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511289 | ||||||
| chr12:22511304
|
T | C | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1038+1990A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511304 | ||||||
| chr12:22511427
|
C | T | 1 | a0001c0002t0001g0179 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1038+1867G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511427 | ||||||
| chr12:22511498
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+1796G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511498 | ||||||
| chr12:22511869
|
C | T | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.1038+1425G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511869 | ||||||
| chr12:22511909
|
T | C | 1 | a0001c0001t0002g0022 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1038+1385A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511909 | ||||||
| chr12:22511924
|
G | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+1370C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22511924 | ||||||
| chr12:22512484
|
CAT | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+808_1038+809d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512484 | ||||||
| chr12:22512541
|
C | T | 1 | a0001c0001t0003g0141 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1038+753G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512541 | ||||||
| chr12:22512552
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1038+742A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512552 | ||||||
| chr12:22512699
|
T | TA | 15 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(12): Show | 17 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(14): Show |
intron_variant | MODIFIER | c.1038+594dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512699 | ||||||
| chr12:22512746
|
C | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1038+548G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512746 | ||||||
| chr12:22512983
|
T | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.1038+311A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22512983 | ||||||
| chr12:22513099
|
C | T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1038+195G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22513099 | ||||||
| chr12:22513148
|
C | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.1038+146G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 9/26 | chr12 | 22513148 | ||||||
| chr12:22513597
|
T | C | 2 | a0001c0001t0001g0069a0001c0001t0001g0080 | 2 | HG01934.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.953-218A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22513597 | ||||||
| chr12:22513669
|
T | C | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.953-290A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22513669 | ||||||
| chr12:22513775
|
G | T | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.953-396C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22513775 | ||||||
| chr12:22513800
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.953-421A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22513800 | ||||||
| chr12:22513864
|
T | C | 1 | a0001c0001t0012g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.953-485A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22513864 | ||||||
| chr12:22514062
|
C | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.953-683G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514062 | ||||||
| chr12:22514129
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.953-750C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514129 | ||||||
| chr12:22514191
|
C | A | 1 | a0001c0002t0001g0084 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.953-812G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514191 | ||||||
| chr12:22514222
|
C | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.953-843G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514222 | ||||||
| chr12:22514511
|
G | C | 1 | a0001c0002t0001g0164 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.953-1132C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514511 | ||||||
| chr12:22514903
|
A | T | 3 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0126 | 3 | HG01243.hp1 HG02258.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.953-1524T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514903 | ||||||
| chr12:22514948
|
T | C | 1 | a0001c0001t0001g0041 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.953-1569A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22514948 | ||||||
| chr12:22515319
|
C | T | 13 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.953-1940G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515319 | ||||||
| chr12:22515385
|
A | T | 53 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(50): Show | 54 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(51): Show |
intron_variant | MODIFIER | c.953-2006T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515385 | ||||||
| chr12:22515438
|
A | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.953-2059T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515438 | ||||||
| chr12:22515602
|
T | C | 14 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(11): Show | 16 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.953-2223A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515602 | ||||||
| chr12:22515791
|
G | A | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.952+2195C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515791 | ||||||
| chr12:22515843
|
G | A | 2 | a0001c0001t0001g0069a0001c0001t0001g0080 | 2 | HG01934.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.952+2143C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515843 | ||||||
| chr12:22515873
|
G | A | 3 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0002t0001g0043 | 3 | HG02257.hp2 HG03471.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.952+2113C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22515873 | ||||||
| chr12:22516049
|
GA | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.952+1936delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22516049 | ||||||
| chr12:22516442
|
C | A | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.952+1544G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22516442 | ||||||
| chr12:22516560
|
T | TA | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.952+1425dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22516560 | ||||||
| chr12:22516649
|
A | C | 2 | a0001c0001t0005g0006a0001c0001t0005g0078 | 3 | HG03139.hp1 NA18522.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.952+1337T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22516649 | ||||||
| chr12:22516869
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.952+1117G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22516869 | ||||||
| chr12:22517005
|
G | A | 2 | a0001c0001t0003g0141a0002c0007t0001g0169 | 2 | HG01891.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.952+981C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517005 | ||||||
| chr12:22517162
|
C | T | 72 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(69): Show | 78 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(75): Show |
intron_variant | MODIFIER | c.952+824G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517162 | ||||||
| chr12:22517259
|
C | G | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.952+727G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517259 | ||||||
| chr12:22517296
|
CAAT | C | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.952+687_952+689del others(3): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517296 | ||||||
| chr12:22517342
|
T | C | 5 | a0001c0001t0004g0002a0001c0001t0004g0016a0001c0001t0004g0017others(2): Show | 6 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.952+644A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517342 | ||||||
| chr12:22517354
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.952+632G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517354 | ||||||
| chr12:22517612
|
T | C | 1 | a0001c0001t0010g0010 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.952+374A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 8/26 | chr12 | 22517612 | ||||||
| chr12:22518545
|
A | C | 2 | a0001c0001t0005g0006a0001c0001t0005g0078 | 3 | HG03139.hp1 NA18522.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.801-408T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518545 | ||||||
| chr12:22518572
|
TAGC | T | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.801-438_801-436del others(3): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518572 | ||||||
| chr12:22518760
|
G | A | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.801-623C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518760 | ||||||
| chr12:22518786
|
A | G | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.801-649T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518786 | ||||||
| chr12:22518888
|
A | T | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.801-751T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518888 | ||||||
| chr12:22518992
|
G | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.801-855C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22518992 | ||||||
| chr12:22519010
|
G | C | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.801-873C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519010 | ||||||
| chr12:22519205
|
G | A | 1 | a0001c0001t0001g0095 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.801-1068C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519205 | ||||||
| chr12:22519286
|
C | G | 1 | a0001c0001t0001g0085 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.801-1149G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519286 | ||||||
| chr12:22519550
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.801-1413A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519550 | ||||||
| chr12:22519562
|
C | T | 72 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(69): Show | 78 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(75): Show |
intron_variant | MODIFIER | c.801-1425G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519562 | ||||||
| chr12:22519587
|
A | C | 1 | a0001c0001t0002g0022 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.801-1450T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519587 | ||||||
| chr12:22519759
|
G | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.801-1622C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22519759 | ||||||
| chr12:22520170
|
C | G | 1 | a0001c0006t0001g0059 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.801-2033G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520170 | ||||||
| chr12:22520172
|
C | T | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.801-2035G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520172 | ||||||
| chr12:22520545
|
G | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.801-2408C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520545 | ||||||
| chr12:22520683
|
T | A | 1 | a0001c0002t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.801-2546A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520683 | ||||||
| chr12:22520686
|
A | C | 1 | a0001c0001t0001g0072 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.801-2549T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520686 | ||||||
| chr12:22520791
|
G | A | 68 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(65): Show | 73 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(70): Show |
intron_variant | MODIFIER | c.800+2635C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520791 | ||||||
| chr12:22520828
|
A | G | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.800+2598T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22520828 | ||||||
| chr12:22521024
|
A | G | 1 | a0001c0003t0007g0154 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.800+2402T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521024 | ||||||
| chr12:22521363
|
C | T | 1 | a0001c0002t0001g0174 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.800+2063G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521363 | ||||||
| chr12:22521588
|
CT | C | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.800+1837delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521588 | ||||||
| chr12:22521860
|
C | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.800+1566G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521860 | ||||||
| chr12:22521923
|
C | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.800+1503G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521923 | ||||||
| chr12:22521936
|
C | G | 32 | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0161others(29): Show | 35 | HG00323.hp1 HG00423.hp1 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.800+1490G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22521936 | ||||||
| chr12:22522081
|
T | C | 11 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(8): Show | 12 | HG00423.hp2 HG02145.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.800+1345A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522081 | ||||||
| chr12:22522112
|
T | C | 2 | a0001c0001t0002g0012a0001c0001t0002g0013 | 2 | HG02615.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.800+1314A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522112 | ||||||
| chr12:22522337
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.800+1089A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522337 | ||||||
| chr12:22522386
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.800+1040T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522386 | ||||||
| chr12:22522577
|
T | C | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.800+849A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522577 | ||||||
| chr12:22522593
|
T | C | 1 | a0001c0002t0001g0071 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.800+833A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522593 | ||||||
| chr12:22522843
|
C | T | 1 | a0001c0002t0001g0067 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.800+583G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22522843 | ||||||
| chr12:22523195
|
C | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.800+231G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22523195 | ||||||
| chr12:22523360
|
C | T | 14 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(11): Show | 16 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.800+66G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 7/26 | chr12 | 22523360 | ||||||
| chr12:22523692
|
G | A | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.602-68C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22523692 | ||||||
| chr12:22523699
|
T | TA | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.602-76dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22523699 | ||||||
| chr12:22523881
|
TATATAA | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.602-263_602-258del others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22523881 | ||||||
| chr12:22523916
|
C | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.602-292G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22523916 | ||||||
| chr12:22524112
|
A | G | 2 | a0001c0003t0001g0149a0001c0003t0001g0150 | 2 | HG02280.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.601+360T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22524112 | ||||||
| chr12:22524415
|
C | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.601+57G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 6/26 | chr12 | 22524415 | ||||||
| chr12:22524720
|
T | C | 3 | a0001c0002t0001g0065a0001c0002t0008g0066a0001c0002t0008g0070 | 3 | HG00609.hp2 HG00621.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.446-93A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22524720 | ||||||
| chr12:22524727
|
A | T | 1 | a0001c0001t0003g0146 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.446-100T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22524727 | ||||||
| chr12:22524820
|
T | C | 2 | a0001c0003t0003g0008a0001c0003t0003g0155 | 3 | HG02965.hp1 HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.446-193A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22524820 | ||||||
| chr12:22524954
|
CTAATTAT | C | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.446-334_446-328del others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22524954 | ||||||
| chr12:22525139
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.445+471A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525139 | ||||||
| chr12:22525163
|
A | T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.445+447T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525163 | ||||||
| chr12:22525226
|
G | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.445+384C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525226 | ||||||
| chr12:22525290
|
A | G | 1 | a0001c0001t0004g0011 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.445+320T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525290 | ||||||
| chr12:22525321
|
G | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.445+289C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525321 | ||||||
| chr12:22525444
|
A | G | 1 | a0001c0001t0001g0115 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.445+166T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 5/26 | chr12 | 22525444 | ||||||
| chr12:22525752
|
G | A | 1 | a0001c0003t0001g0147 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.350-47C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22525752 | ||||||
| chr12:22525851
|
T | G | 1 | a0001c0001t0012g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.350-146A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22525851 | ||||||
| chr12:22525974
|
A | C | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.350-269T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22525974 | ||||||
| chr12:22526067
|
G | A | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.350-362C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526067 | ||||||
| chr12:22526099
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.350-394A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526099 | ||||||
| chr12:22526237
|
A | G | 5 | a0001c0001t0004g0002a0001c0001t0004g0016a0001c0001t0004g0017others(2): Show | 6 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.350-532T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526237 | ||||||
| chr12:22526278
|
A | T | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.350-573T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526278 | ||||||
| chr12:22526320
|
G | A | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.350-615C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526320 | ||||||
| chr12:22526405
|
T | A | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.350-700A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526405 | ||||||
| chr12:22526457
|
T | C | 3 | a0001c0002t0001g0053a0001c0002t0001g0054a0001c0002t0001g0055 | 3 | HG01243.hp2 HG02622.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.350-752A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22526457 | ||||||
| chr12:22527182
|
C | T | 1 | a0001c0001t0004g0016 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.349+539G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527182 | ||||||
| chr12:22527237
|
TGA | T | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.349+482_349+483del others(2): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527237 | ||||||
| chr12:22527317
|
C | CAT | 18 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(15): Show | 19 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(16): Show |
intron_variant | MODIFIER | c.349+402_349+403dup others(2): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527317 | ||||||
| chr12:22527317
|
C | CATAT | 5 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010others(2): Show | 5 | HG02486.hp2 HG02965.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.349+400_349+403dup others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527317 | ||||||
| chr12:22527330
|
A | ATATAT | 8 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(5): Show | 9 | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.349+390_349+391ins others(5): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527330 | ||||||
| chr12:22527330
|
A | T | 3 | a0001c0002t0001g0061a0001c0002t0001g0073a0001c0006t0001g0059 | 3 | HG02109.hp2 HG02258.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.349+391T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527330 | ||||||
| chr12:22527330
|
AT | A | 10 | a0001c0001t0001g0007a0001c0002t0001g0054a0001c0002t0001g0062others(7): Show | 11 | HG00609.hp2 HG00621.hp1 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.349+390delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527330 | ||||||
| chr12:22527331
|
T | TA | 6 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(3): Show | 7 | HG02622.hp1 HG02622.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.349+389_349+390ins others(1): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527331 | ||||||
| chr12:22527331
|
T | TATA | 22 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0003g0133others(19): Show | 24 | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.349+389_349+390ins others(3): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527331 | ||||||
| chr12:22527331
|
T | TATATATA | 2 | a0001c0001t0011g0034a0001c0001t0012g0035 | 2 | HG02145.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.349+389_349+390ins others(7): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527331 | ||||||
| chr12:22527332
|
T | A | 77 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(74): Show | 78 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.349+389A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527332 | ||||||
| chr12:22527333
|
T | A | 16 | a0001c0001t0001g0007a0001c0001t0003g0146a0001c0001t0004g0019others(13): Show | 18 | HG01169.hp1 HG01243.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.349+388A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527333 | ||||||
| chr12:22527334
|
T | A | 21 | a0001c0001t0001g0104a0001c0001t0001g0118a0001c0001t0001g0120others(18): Show | 22 | HG00423.hp2 HG01168.hp2 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.349+387A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527334 | ||||||
| chr12:22527335
|
T | A | 2 | a0001c0001t0003g0146a0001c0001t0012g0035 | 2 | HG02723.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.349+386A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527335 | ||||||
| chr12:22527336
|
T | A | 12 | a0001c0001t0001g0104a0001c0001t0004g0011a0001c0001t0004g0014others(9): Show | 13 | HG00423.hp2 HG02486.hp2 HG02698.hp1 others(10): Show |
intron_variant | MODIFIER | c.349+385A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527336 | ||||||
| chr12:22527405
|
G | A | 1 | a0001c0001t0002g0027 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.349+316C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527405 | ||||||
| chr12:22527446
|
G | A | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.349+275C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | 22527446 | ||||||
| chr12:22527917
|
A | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.178-25T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22527917 | ||||||
| chr12:22528353
|
C | T | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.178-461G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528353 | ||||||
| chr12:22528445
|
T | C | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.178-553A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528445 | ||||||
| chr12:22528503
|
G | A | 72 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(69): Show | 78 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(75): Show |
intron_variant | MODIFIER | c.178-611C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528503 | ||||||
| chr12:22528561
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.178-669G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528561 | ||||||
| chr12:22528740
|
C | T | 1 | a0001c0001t0001g0106 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.178-848G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528740 | ||||||
| chr12:22528776
|
C | G | 1 | a0001c0004t0001g0048 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.178-884G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528776 | ||||||
| chr12:22528800
|
T | C | 2 | a0001c0002t0001g0176a0001c0002t0001g0177 | 2 | NA18959.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.178-908A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528800 | ||||||
| chr12:22528804
|
C | T | 60 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(57): Show | 64 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.178-912G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22528804 | ||||||
| chr12:22529082
|
G | A | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.178-1190C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529082 | ||||||
| chr12:22529246
|
T | C | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.178-1354A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529246 | ||||||
| chr12:22529294
|
A | G | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.178-1402T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529294 | ||||||
| chr12:22529406
|
C | A | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.178-1514G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529406 | ||||||
| chr12:22529583
|
A | G | 1 | a0001c0001t0006g0136 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.178-1691T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529583 | ||||||
| chr12:22529596
|
T | C | 1 | a0001c0001t0002g0003 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.178-1704A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529596 | ||||||
| chr12:22529616
|
T | C | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.178-1724A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529616 | ||||||
| chr12:22529747
|
G | T | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.178-1855C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529747 | ||||||
| chr12:22529890
|
A | G | 1 | a0001c0003t0009g0151 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.178-1998T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529890 | ||||||
| chr12:22529901
|
T | C | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.178-2009A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22529901 | ||||||
| chr12:22530076
|
C | CTA | 22 | a0001c0001t0001g0044a0001c0001t0001g0069a0001c0001t0001g0114others(19): Show | 24 | HG00323.hp1 HG01168.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.178-2186_178-2185d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
C | CTATA | 7 | a0001c0001t0001g0097a0001c0001t0001g0119a0001c0001t0001g0124others(4): Show | 7 | HG00733.hp2 HG01261.hp1 HG01934.hp2 others(4): Show |
intron_variant | MODIFIER | c.178-2188_178-2185d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
C | CTATATAT others(1): Show |
2 | a0001c0002t0001g0176a0001c0002t0008g0185 | 2 | HG00621.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.178-2192_178-2185d others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
C | CTATATAT others(3): Show |
1 | a0001c0002t0001g0177 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.178-2194_178-2185d others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
C | CTATATAT others(5): Show |
1 | a0001c0002t0008g0070 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.178-2196_178-2185d others(14): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
CTA | C | 9 | a0001c0001t0001g0105a0001c0001t0011g0034a0001c0001t0013g0036others(6): Show | 10 | HG00423.hp2 HG02109.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.178-2186_178-2185d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530076
|
CTATA | C | 5 | a0001c0001t0001g0072a0001c0002t0001g0074a0001c0002t0001g0081others(2): Show | 5 | HG02257.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-2188_178-2185d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530076 | ||||||
| chr12:22530099
|
TATATATA others(7): Show |
T | 1 | a0001c0002t0001g0076 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.178-2221_178-2208d others(16): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530099 | ||||||
| chr12:22530101
|
TATATATA others(7): Show |
T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.178-2223_178-2210d others(16): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530101 | ||||||
| chr12:22530101
|
TATATATA others(9): Show |
T | 1 | a0001c0001t0004g0033 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.178-2225_178-2210d others(18): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530101 | ||||||
| chr12:22530103
|
TATATATA others(3): Show |
T | 2 | a0001c0003t0001g0149a0001c0003t0001g0150 | 2 | HG02280.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.178-2221_178-2212d others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530103 | ||||||
| chr12:22530103
|
TATATATA others(7): Show |
T | 1 | a0001c0001t0004g0019 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.178-2225_178-2212d others(16): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530103 | ||||||
| chr12:22530105
|
T | C | 1 | a0001c0001t0012g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.178-2213A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530105 | ||||||
| chr12:22530105
|
TATATATA others(1): Show |
T | 2 | a0001c0001t0003g0144a0001c0001t0003g0145 | 2 | HG03453.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.178-2221_178-2214d others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530105 | ||||||
| chr12:22530105
|
TATATATA others(3): Show |
T | 2 | a0001c0001t0003g0134a0001c0001t0003g0135 | 2 | HG02970.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.178-2223_178-2214d others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530105 | ||||||
| chr12:22530105
|
TATATATA others(5): Show |
T | 2 | a0001c0001t0004g0004a0001c0001t0004g0015 | 3 | HG01884.hp2 HG02559.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.178-2225_178-2214d others(14): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530105 | ||||||
| chr12:22530107
|
T | C | 2 | a0001c0001t0012g0035a0001c0001t0013g0036 | 2 | HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.178-2215A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530107 | ||||||
| chr12:22530107
|
T | TAC | 3 | a0001c0001t0005g0006a0001c0001t0005g0078a0001c0001t0005g0079 | 4 | HG03139.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-2216_178-2215i others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530107 | ||||||
| chr12:22530107
|
TATATACA others(1): Show |
T | 8 | a0001c0001t0003g0133a0001c0001t0003g0137a0001c0001t0003g0139others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.178-2223_178-2216d others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530107 | ||||||
| chr12:22530109
|
T | C | 5 | a0001c0001t0005g0006a0001c0001t0005g0078a0001c0001t0005g0079others(2): Show | 6 | HG02723.hp2 HG03139.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.178-2217A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
T | TACAC | 3 | a0001c0001t0006g0131a0001c0001t0006g0132a0001c0003t0003g0155 | 3 | HG02895.hp2 HG02897.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.178-2218_178-2217i others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
TATAC | T | 4 | a0001c0001t0003g0146a0001c0002t0001g0009a0001c0003t0001g0152others(1): Show | 5 | HG00735.hp2 HG01109.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-2221_178-2218d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
TATACAC | T | 6 | a0001c0001t0003g0143a0001c0001t0004g0014a0001c0001t0010g0010others(3): Show | 6 | HG00609.hp2 HG00621.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.178-2223_178-2218d others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
TATACACA others(1): Show |
T | 6 | a0001c0001t0001g0041a0001c0001t0004g0002a0001c0001t0004g0016others(3): Show | 7 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.178-2225_178-2218d others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
TATACACA others(5): Show |
T | 1 | a0001c0001t0002g0003 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.178-2229_178-2218d others(14): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530109
|
TATACACA others(7): Show |
T | 1 | a0001c0001t0002g0022 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.178-2231_178-2218d others(16): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530109 | ||||||
| chr12:22530111
|
T | C | 14 | a0001c0001t0001g0038a0001c0001t0001g0120a0001c0001t0001g0121others(11): Show | 15 | HG01255.hp2 HG01257.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.178-2219A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
T | TAC | 4 | a0001c0001t0001g0085a0001c0001t0001g0122a0001c0003t0007g0153others(1): Show | 4 | HG02135.hp1 HG02976.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-2221_178-2220d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
T | TACACAC | 2 | a0001c0001t0006g0129a0001c0003t0007g0159 | 2 | HG01891.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.178-2225_178-2220d others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
T | TATACACA others(1): Show |
1 | a0001c0003t0003g0008 | 2 | HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.178-2220_178-2219i others(10): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
T | TATACACA others(3): Show |
1 | a0001c0001t0006g0130 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.178-2220_178-2219i others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
TAC | T | 13 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0126others(10): Show | 13 | HG01261.hp2 HG01516.hp2 HG01981.hp2 others(10): Show |
intron_variant | MODIFIER | c.178-2221_178-2220d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
TACAC | T | 14 | a0001c0001t0001g0086a0001c0001t0001g0088a0001c0001t0001g0090others(11): Show | 14 | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.178-2223_178-2220d others(6): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
TACACAC | T | 3 | a0001c0001t0001g0007a0001c0002t0001g0056a0001c0002t0001g0128 | 4 | HG00099.hp2 HG01169.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-2225_178-2220d others(8): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
TACACACA others(3): Show |
T | 3 | a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028 | 3 | HG01175.hp2 NA18959.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.178-2229_178-2220d others(12): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530111
|
TACACACA others(5): Show |
T | 6 | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0001t0002g0024others(3): Show | 6 | HG00738.hp1 HG03834.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.178-2231_178-2220d others(14): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530111 | ||||||
| chr12:22530113
|
C | T | 41 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0044others(38): Show | 43 | HG00323.hp1 HG00423.hp1 HG00609.hp1 others(40): Show |
intron_variant | MODIFIER | c.178-2221G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530113 | ||||||
| chr12:22530115
|
C | T | 17 | a0001c0001t0001g0069a0001c0001t0001g0080a0001c0001t0001g0096others(14): Show | 17 | HG00609.hp1 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.178-2223G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530115 | ||||||
| chr12:22530117
|
C | T | 6 | a0001c0001t0001g0160a0001c0002t0001g0062a0001c0002t0001g0063others(3): Show | 6 | HG01255.hp1 HG01516.hp2 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.178-2225G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530117 | ||||||
| chr12:22530119
|
C | T | 1 | a0001c0002t0001g0062 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.178-2227G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530119 | ||||||
| chr12:22530123
|
C | T | 3 | a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028 | 3 | HG01175.hp2 NA18959.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.178-2231G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530123 | ||||||
| chr12:22530143
|
GTA | G | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.178-2253_178-2252d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530143 | ||||||
| chr12:22530191
|
GT | G | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.178-2300delA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530191 | ||||||
| chr12:22530194
|
T | C | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.178-2302A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530194 | ||||||
| chr12:22530260
|
G | GTA | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.178-2370_178-2369d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530260 | ||||||
| chr12:22530485
|
T | A | 3 | a0001c0003t0001g0156a0001c0003t0001g0157a0001c0003t0001g0158 | 3 | HG01168.hp1 HG01169.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.178-2593A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530485 | ||||||
| chr12:22530513
|
A | ATT | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.178-2622_178-2621i others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530513 | ||||||
| chr12:22530521
|
G | C | 1 | a0001c0003t0007g0159 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.178-2629C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530521 | ||||||
| chr12:22530603
|
T | G | 189 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(186): Show | 199 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.178-2711A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530603 | ||||||
| chr12:22530917
|
A | G | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.178-3025T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22530917 | ||||||
| chr12:22531156
|
A | T | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.178-3264T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531156 | ||||||
| chr12:22531168
|
C | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.178-3276G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531168 | ||||||
| chr12:22531263
|
C | G | 6 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0044others(3): Show | 6 | HG02257.hp2 HG02451.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.178-3371G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531263 | ||||||
| chr12:22531324
|
C | G | 62 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(59): Show | 66 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(63): Show |
intron_variant | MODIFIER | c.178-3432G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531324 | ||||||
| chr12:22531340
|
A | G | 3 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0033 | 4 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.178-3448T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531340 | ||||||
| chr12:22531466
|
C | T | 1 | a0001c0004t0001g0046 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.178-3574G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531466 | ||||||
| chr12:22531543
|
G | A | 3 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036 | 3 | HG02145.hp2 HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.178-3651C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531543 | ||||||
| chr12:22531709
|
T | C | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+3549A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531709 | ||||||
| chr12:22531713
|
C | T | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+3545G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531713 | ||||||
| chr12:22531832
|
C | T | 184 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(181): Show | 194 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.177+3426G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22531832 | ||||||
| chr12:22532028
|
G | A | 1 | a0001c0002t0001g0182 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.177+3230C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532028 | ||||||
| chr12:22532080
|
C | A | 17 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(14): Show | 18 | HG01168.hp1 HG01169.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.177+3178G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532080 | ||||||
| chr12:22532278
|
C | T | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+2980G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532278 | ||||||
| chr12:22532317
|
T | C | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+2941A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532317 | ||||||
| chr12:22532318
|
G | A | 1 | a0001c0001t0004g0019 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.177+2940C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532318 | ||||||
| chr12:22532330
|
C | CAA | 45 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(42): Show | 49 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(46): Show |
intron_variant | MODIFIER | c.177+2926_177+2927d others(4): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532330 | ||||||
| chr12:22532330
|
C | CAAA | 13 | a0001c0001t0003g0134a0001c0001t0003g0135a0001c0001t0003g0137others(10): Show | 13 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.177+2925_177+2927d others(5): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532330 | ||||||
| chr12:22532330
|
CA | C | 10 | a0001c0001t0001g0039a0001c0002t0001g0161a0001c0004t0001g0005others(7): Show | 11 | HG00423.hp2 HG02451.hp2 HG03942.hp2 others(8): Show |
intron_variant | MODIFIER | c.177+2927delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532330 | ||||||
| chr12:22532500
|
A | T | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+2758T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532500 | ||||||
| chr12:22532764
|
T | A | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.177+2494A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532764 | ||||||
| chr12:22532768
|
C | A | 9 | a0001c0001t0004g0002a0001c0001t0004g0004a0001c0001t0004g0015others(6): Show | 11 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.177+2490G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532768 | ||||||
| chr12:22532958
|
C | G | 1 | a0001c0001t0001g0123 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.177+2300G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532958 | ||||||
| chr12:22532999
|
G | T | 1 | a0001c0001t0001g0123 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.177+2259C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22532999 | ||||||
| chr12:22533069
|
G | A | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+2189C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533069 | ||||||
| chr12:22533162
|
G | T | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.177+2096C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533162 | ||||||
| chr12:22533163
|
G | C | 1 | a0001c0001t0004g0019 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.177+2095C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533163 | ||||||
| chr12:22533167
|
G | A | 3 | a0001c0001t0004g0011a0001c0001t0004g0014a0001c0001t0010g0010 | 3 | HG02486.hp2 HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.177+2091C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533167 | ||||||
| chr12:22533338
|
T | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.177+1920A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533338 | ||||||
| chr12:22533397
|
A | G | 73 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(70): Show | 79 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(76): Show |
intron_variant | MODIFIER | c.177+1861T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533397 | ||||||
| chr12:22533636
|
G | C | 1 | a0001c0002t0001g0061 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.177+1622C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533636 | ||||||
| chr12:22533993
|
C | A | 1 | a0001c0001t0001g0123 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.177+1265G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22533993 | ||||||
| chr12:22534087
|
C | T | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+1171G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534087 | ||||||
| chr12:22534149
|
T | C | 185 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(182): Show | 195 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(192): Show |
intron_variant | MODIFIER | c.177+1109A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534149 | ||||||
| chr12:22534182
|
T | A | 53 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(50): Show | 54 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(51): Show |
intron_variant | MODIFIER | c.177+1076A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534182 | ||||||
| chr12:22534334
|
A | G | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+924T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534334 | ||||||
| chr12:22534506
|
T | C | 1 | a0001c0001t0002g0028 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.177+752A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534506 | ||||||
| chr12:22534637
|
G | C | 1 | a0001c0001t0013g0036 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.177+621C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534637 | ||||||
| chr12:22534730
|
A | G | 1 | a0001c0002t0001g0056 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.177+528T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22534730 | ||||||
| chr12:22535045
|
A | G | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+213T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22535045 | ||||||
| chr12:22535059
|
A | C | 62 | a0001c0001t0001g0127a0001c0001t0002g0003a0001c0001t0002g0012others(59): Show | 66 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(63): Show |
intron_variant | MODIFIER | c.177+199T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22535059 | ||||||
| chr12:22535077
|
G | A | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.177+181C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22535077 | ||||||
| chr12:22535102
|
T | C | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.177+156A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | 22535102 | ||||||
| chr12:22535432
|
A | T | 74 | a0001c0001t0001g0127a0001c0001t0002g0003a0001c0001t0002g0012others(71): Show | 80 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(77): Show |
intron_variant | MODIFIER | c.91-88T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22535432 | ||||||
| chr12:22535545
|
T | C | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.91-201A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22535545 | ||||||
| chr12:22535586
|
T | G | 1 | a0001c0001t0004g0018 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.91-242A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22535586 | ||||||
| chr12:22535663
|
T | C | 2 | a0001c0001t0002g0029a0001c0001t0002g0030 | 2 | HG03927.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.91-319A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22535663 | ||||||
| chr12:22535667
|
G | A | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.91-323C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22535667 | ||||||
| chr12:22536012
|
T | C | 29 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(26): Show | 32 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(29): Show |
intron_variant | MODIFIER | c.91-668A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536012 | ||||||
| chr12:22536085
|
G | A | 61 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(58): Show | 65 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(62): Show |
intron_variant | MODIFIER | c.91-741C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536085 | ||||||
| chr12:22536143
|
C | CA | 45 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0022others(42): Show | 47 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.91-800dupT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536143 | ||||||
| chr12:22536143
|
C | CAA | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.91-801_91-800dupTT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536143 | ||||||
| chr12:22536188
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.91-844A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536188 | ||||||
| chr12:22536236
|
C | T | 1 | a0001c0001t0001g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.91-892G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536236 | ||||||
| chr12:22536334
|
C | T | 4 | a0001c0001t0006g0129a0001c0001t0006g0130a0001c0001t0006g0131others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.91-990G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536334 | ||||||
| chr12:22536345
|
T | C | 14 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(11): Show | 16 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.91-1001A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536345 | ||||||
| chr12:22536488
|
A | C | 5 | a0001c0001t0004g0002a0001c0001t0004g0016a0001c0001t0004g0017others(2): Show | 6 | HG01884.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.91-1144T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536488 | ||||||
| chr12:22536576
|
T | C | 1 | a0001c0002t0008g0185 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.91-1232A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536576 | ||||||
| chr12:22536670
|
A | G | 69 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(66): Show | 74 | HG00423.hp2 HG00738.hp1 HG01168.hp1 others(71): Show |
intron_variant | MODIFIER | c.91-1326T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536670 | ||||||
| chr12:22536796
|
T | C | 11 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(8): Show | 13 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.91-1452A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536796 | ||||||
| chr12:22536927
|
T | C | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.91-1583A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22536927 | ||||||
| chr12:22537158
|
A | C | 3 | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0033 | 4 | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.91-1814T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537158 | ||||||
| chr12:22537535
|
C | T | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.91-2191G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537535 | ||||||
| chr12:22537565
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.91-2221A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537565 | ||||||
| chr12:22537708
|
A | G | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.91-2364T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537708 | ||||||
| chr12:22537756
|
T | C | 1 | a0001c0001t0004g0020 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.91-2412A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537756 | ||||||
| chr12:22537824
|
C | G | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.91-2480G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537824 | ||||||
| chr12:22537940
|
GACT | G | 2 | a0001c0002t0001g0183a0001c0002t0001g0184 | 2 | HG00423.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.91-2599_91-2597del others(3): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22537940 | ||||||
| chr12:22538013
|
C | A | 1 | a0001c0001t0001g0125 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.91-2669G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22538013 | ||||||
| chr12:22538406
|
T | C | 1 | a0001c0001t0004g0014 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.91-3062A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22538406 | ||||||
| chr12:22538673
|
A | G | 3 | a0001c0002t0001g0053a0001c0002t0001g0054a0001c0002t0001g0055 | 3 | HG01243.hp2 HG02622.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.91-3329T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22538673 | ||||||
| chr12:22538703
|
A | T | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.91-3359T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22538703 | ||||||
| chr12:22538940
|
C | A | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.91-3596G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22538940 | ||||||
| chr12:22539071
|
A | AT | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.91-3728dupA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539071 | ||||||
| chr12:22539274
|
T | C | 17 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(14): Show | 18 | HG01168.hp1 HG01169.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.91-3930A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539274 | ||||||
| chr12:22539364
|
TCA | T | 43 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(40): Show | 46 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(43): Show |
intron_variant | MODIFIER | c.91-4022_91-4021del others(2): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539364 | ||||||
| chr12:22539757
|
G | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.90+4304C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539757 | ||||||
| chr12:22539916
|
TGA | T | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.90+4143_90+4144del others(2): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539916 | ||||||
| chr12:22539992
|
CA | C | 58 | a0001c0001t0001g0039a0001c0001t0001g0041a0001c0001t0001g0086others(55): Show | 61 | HG00733.hp1 HG00735.hp1 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.90+4068delT | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22539992 | ||||||
| chr12:22540009
|
A | G | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.90+4052T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540009 | ||||||
| chr12:22540021
|
A | T | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.90+4040T>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540021 | ||||||
| chr12:22540053
|
A | C | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.90+4008T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540053 | ||||||
| chr12:22540088
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.90+3973T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540088 | ||||||
| chr12:22540189
|
T | C | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.90+3872A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540189 | ||||||
| chr12:22540240
|
G | A | 1 | a0001c0002t0008g0185 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.90+3821C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540240 | ||||||
| chr12:22540557
|
A | C | 8 | a0001c0004t0001g0005a0001c0004t0001g0046a0001c0004t0001g0047others(5): Show | 9 | HG00423.hp2 HG03942.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.90+3504T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540557 | ||||||
| chr12:22540598
|
T | C | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.90+3463A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540598 | ||||||
| chr12:22540688
|
G | A | 1 | a0001c0002t0001g0076 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.90+3373C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540688 | ||||||
| chr12:22540719
|
C | T | 2 | a0001c0003t0001g0147a0001c0003t0001g0148 | 2 | HG02572.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.90+3342G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540719 | ||||||
| chr12:22540743
|
C | T | 1 | a0001c0001t0001g0086 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.90+3318G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540743 | ||||||
| chr12:22540796
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.90+3265A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22540796 | ||||||
| chr12:22541039
|
T | G | 4 | a0001c0001t0005g0006a0001c0001t0005g0077a0001c0001t0005g0078others(1): Show | 5 | HG02622.hp1 HG03139.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.90+3022A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541039 | ||||||
| chr12:22541282
|
G | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.90+2779C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541282 | ||||||
| chr12:22541348
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.90+2713A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541348 | ||||||
| chr12:22541417
|
T | C | 1 | a0001c0001t0011g0034 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.90+2644A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541417 | ||||||
| chr12:22541562
|
T | C | 65 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0013others(62): Show | 69 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(66): Show |
intron_variant | MODIFIER | c.90+2499A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541562 | ||||||
| chr12:22541622
|
T | A | 14 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0149others(11): Show | 15 | HG01168.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.90+2439A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541622 | ||||||
| chr12:22541674
|
C | T | 1 | a0001c0001t0001g0085 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.90+2387G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541674 | ||||||
| chr12:22541712
|
G | C | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.90+2349C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541712 | ||||||
| chr12:22541778
|
T | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0022others(8): Show | 12 | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.90+2283A>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541778 | ||||||
| chr12:22541899
|
T | C | 18 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(15): Show | 20 | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.90+2162A>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541899 | ||||||
| chr12:22541998
|
T | G | 14 | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0135others(11): Show | 14 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.90+2063A>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22541998 | ||||||
| chr12:22542308
|
C | A | 52 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0001g0039others(49): Show | 53 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(50): Show |
intron_variant | MODIFIER | c.90+1753G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542308 | ||||||
| chr12:22542625
|
C | G | 5 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0011others(2): Show | 5 | HG02486.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.90+1436G>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542625 | ||||||
| chr12:22542647
|
C | A | 1 | a0001c0001t0014g0037 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.90+1414G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542647 | ||||||
| chr12:22542744
|
A | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0044others(2): Show | 5 | HG02257.hp2 HG02451.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.90+1317T>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542744 | ||||||
| chr12:22542870
|
G | T | 1 | a0001c0001t0001g0041 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.90+1191C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542870 | ||||||
| chr12:22542895
|
C | T | 14 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0004g0002others(11): Show | 16 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.90+1166G>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22542895 | ||||||
| chr12:22543217
|
C | A | 1 | a0001c0002t0001g0186 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.90+844G>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543217 | ||||||
| chr12:22543488
|
G | A | 1 | a0001c0002t0001g0187 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.90+573C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543488 | ||||||
| chr12:22543491
|
A | G | 1 | a0001c0001t0001g0040 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.90+570T>C | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543491 | ||||||
| chr12:22543642
|
A | ACCTTGGG others(111): Show |
1 | a0001c0001t0001g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.90+301_90+418dupCG others(116): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543642 | ||||||
| chr12:22543708
|
T | TTG | 46 | a0001c0001t0001g0127a0001c0001t0002g0003a0001c0001t0002g0012others(43): Show | 49 | HG00099.hp2 HG00738.hp1 HG01175.hp2 others(46): Show |
intron_variant | MODIFIER | c.90+351_90+352dupCA | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543708 | ||||||
| chr12:22543708
|
T | TTGTG | 17 | a0001c0001t0011g0034a0001c0001t0012g0035a0001c0001t0013g0036others(14): Show | 18 | HG01168.hp1 HG01169.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.90+349_90+352dupCA others(2): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543708 | ||||||
| chr12:22543710
|
G | A | 2 | a0001c0002t0001g0188a0001c0002t0001g0189 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.90+351C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543710 | ||||||
| chr12:22543862
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.90+199C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543862 | ||||||
| chr12:22543911
|
G | A | 33 | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0161others(30): Show | 36 | HG00323.hp1 HG00423.hp1 HG00609.hp1 others(33): Show |
intron_variant | MODIFIER | c.90+150C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 2/26 | chr12 | 22543911 | ||||||
| chr12:22544235
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-29-56C>A | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/26 | chr12 | 22544235 | ||||||
| chr12:22544282
|
G | C | 1 | a0001c0001t0001g0190 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-30+38C>G | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/26 | chr12 | 22544282 | ||||||
| chr12:22544293
|
G | A | 2 | a0001c0001t0004g0004a0001c0001t0004g0033 | 3 | HG02559.hp1 HG02572.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-30+27C>T | C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 1/26 | chr12 | 22544293 |