Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 55722 |
|---|---|
| ensemblid | ENSG00000112877.8 |
| hgncid | 25547 |
| symbol | CEP72 |
| name | centrosomal protein 72 |
| refseq_nuc | NM_018140.4 |
| refseq_prot | NP_060610.2 |
| ensembl_nuc | ENST00000264935.6 |
| ensembl_prot | ENSP00000264935.5 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 612340 |
| end | 653553 |
| strand | + |
| ver | v1.2 |
| region | chr5:612340-653553 |
| region5000 | chr5:607340-658553 |
| regionname0 | CEP72_chr5_612340_653553 |
| regionname5000 | CEP72_chr5_607340_658553 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 647 | 64 | 5 | 18 | 23 | 5 | 12 | 17 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0002 | 0/0 | 647 | 18 | 0 | 6 | 2 | 1 | 9 | 2 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0003 | 0/0 | 647 | 6 | 3 | 2 | 1 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0004 | 0/0 | 647 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0005 | 0/0 | 647 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 1944 | 62 | 5 | 17 | 22 | 5 | 12 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0002 | 0/0 | 1944 | 18 | 0 | 6 | 2 | 1 | 9 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0003 | 0/0 | 1944 | 4 | 1 | 2 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0004 | 0/0 | 1944 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0005 | 0/0 | 1944 | 2 | 2 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0006 | 0/0 | 1944 | 2 | 0 | 1 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| c0007 | 0/0 | 1944 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 423 | 83 | 5 | 24 | 25 | 6 | 22 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| t0002 | 0/0 | 425 | 6 | 3 | 2 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| t0003 | 0/0 | 423 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0021 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 1944 | 62 | 5 | 17 | 22 | 5 | 12 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0001c0006 | 0/0 | 1944 | 2 | 0 | 1 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0002c0002 | 0/0 | 1944 | 18 | 0 | 6 | 2 | 1 | 9 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0003c0003 | 0/0 | 1944 | 4 | 1 | 2 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0003c0005 | 0/0 | 1944 | 2 | 2 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0004c0004 | 0/0 | 1944 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0005c0007 | 0/0 | 1944 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 2366 | 62 | 5 | 17 | 22 | 5 | 12 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0001c0006t0001 | 0/0 | 2366 | 2 | 0 | 1 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0002c0002t0001 | 0/0 | 2366 | 18 | 0 | 6 | 2 | 1 | 9 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0003c0003t0002 | 0/0 | 2368 | 4 | 1 | 2 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0003c0005t0002 | 0/0 | 2368 | 2 | 2 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0004c0004t0003 | 0/0 | 2366 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| a0005c0007t0001 | 0/0 | 2366 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | copy fasta | chr5 | 607340 | 658553 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0021 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0006t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0001c0006t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0002c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0003t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0003t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0003t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0003t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0005t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0003c0005t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0004c0004t0003g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| a0005c0007t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | CHS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | CHS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG00735 | hp1 | a0002 | c0002 | t0001 | g0078 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0085 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0051 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01175 | hp1 | a0002 | c0002 | t0001 | g0086 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0042 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0057 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01243 | hp1 | a0002 | c0002 | t0001 | g0081 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0066 | AMR | PUR | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01255 | hp1 | a0001 | c0006 | t0001 | g0012 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0068 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01256 | hp2 | a0003 | c0003 | t0002 | g0023 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01258 | hp1 | a0003 | c0003 | t0002 | g0022 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0056 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0083 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | CLM | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0047 | EUR | IBS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0044 | EUR | IBS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0008 | EUR | IBS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0043 | EUR | IBS | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PEL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG01981 | hp2 | a0002 | c0002 | t0001 | g0084 | AMR | PEL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | KHV | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | KHV | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02451 | hp2 | a0003 | c0005 | t0002 | g0014 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02602 | hp1 | a0002 | c0002 | t0001 | g0088 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02683 | hp1 | a0002 | c0002 | t0001 | g0080 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02683 | hp2 | a0002 | c0002 | t0001 | g0073 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0077 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03491 | hp2 | a0002 | c0002 | t0001 | g0071 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0055 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | PJL | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03688 | hp1 | a0005 | c0007 | t0001 | g0076 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | BEB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03834 | hp2 | a0002 | c0002 | t0001 | g0079 | SAS | BEB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | BEB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | BEB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0054 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0082 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG04228 | hp2 | a0002 | c0002 | t0001 | g0072 | SAS | STU | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18942 | hp1 | a0002 | c0002 | t0001 | g0074 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18950 | hp1 | a0001 | c0006 | t0001 | g0024 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18971 | hp1 | a0004 | c0004 | t0003 | g0002 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18982 | hp1 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19010 | hp1 | a0003 | c0003 | t0002 | g0026 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19065 | hp1 | a0004 | c0004 | t0003 | g0002 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20129 | hp1 | a0003 | c0003 | t0002 | g0020 | AFR | ASW | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20129 | hp2 | a0003 | c0005 | t0002 | g0019 | AFR | ASW | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0060 | EUR | TSI | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20752 | hp2 | a0002 | c0002 | t0001 | g0087 | EUR | TSI | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20905 | hp1 | a0002 | c0002 | t0001 | g0075 | SAS | GIH | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | GIH | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0021 | REF | REF | CEP72_chr5_607340_658553 | CEP72 | chr5 | 607340 | 658553 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:620112
|
A | T | 1 | a0005 | 1 | HG03688.hp1 | missense_variant | MODERATE | c.254A>T | p.Tyr85Phe | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/12 | 276/2366 | 254/1944 | 85/647 | chr5 | 620112 | ||
| chr5:639116
|
C | A | 2 | a0002a0005 | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
missense_variant | MODERATE | c.1234C>A | p.Pro412Thr | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/12 | 1256/2366 | 1234/1944 | 412/647 | chr5 | 639116 | ||
| chr5:640590
|
A | G | 1 | a0003 | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
missense_variant | MODERATE | c.1525A>G | p.Thr509Ala | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/12 | 1547/2366 | 1525/1944 | 509/647 | chr5 | 640590 | ||
| chr5:644337
|
G | C | 1 | a0005 | 1 | HG03688.hp1 | missense_variant | MODERATE | c.1578G>C | p.Glu526Asp | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/12 | 1600/2366 | 1578/1944 | 526/647 | chr5 | 644337 | ||
| chr5:653030
|
C | G | 1 | a0004 | 2 | NA18971.hp1 NA19065.hp1 |
missense_variant | MODERATE | c.1821C>G | p.Ser607Arg | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 12/12 | 1843/2366 | 1821/1944 | 607/647 | chr5 | 653030 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:640418
|
A | G | 1 | a0001c0006 | 2 | HG01255.hp1 NA18950.hp1 |
synonymous_variant | LOW | c.1353A>G | p.Arg451Arg | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/12 | 1375/2366 | 1353/1944 | 451/647 | chr5 | 640418 | ||
| chr5:640589
|
C | T | 1 | a0003c0005 | 2 | HG02451.hp2 NA20129.hp2 |
synonymous_variant | LOW | c.1524C>T | p.His508His | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/12 | 1546/2366 | 1524/1944 | 508/647 | chr5 | 640589 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:653228
|
T | C | 2 | a0003c0003t0002a0003c0005t0002 | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*75T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 12/12 | 75 | chr5 | 653228 | |||||
| chr5:653255
|
C | G | 1 | a0004c0004t0003 | 2 | NA18971.hp1 NA19065.hp1 |
3_prime_UTR_variant | MODIFIER | c.*102C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 12/12 | 102 | chr5 | 653255 | |||||
| chr5:653351
|
G | GC | 2 | a0003c0003t0002a0003c0005t0002 | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*201dupC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 12/12 | 202 | INFO_REALIGN_3_PRIME | chr5 | 653351 | ||||
| chr5:653538
|
T | TA | 2 | a0003c0003t0002a0003c0005t0002 | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*386dupA | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 12/12 | 387 | INFO_REALIGN_3_PRIME | chr5 | 653538 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:612688
|
C | CTG | 64 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(61): Show | 65 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.82+246_82+247dupTG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 612688 | |||||
| chr5:613377
|
G | GT | 4 | a0001c0001t0001g0025a0001c0001t0001g0089a0001c0006t0001g0024others(1): Show | 4 | HG00741.hp2 NA18950.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.82+946dupT | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 613377 | |||||
| chr5:613855
|
C | T | 1 | a0001c0001t0001g0089 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.82+1412C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 613855 | ||||||
| chr5:614176
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.82+1733C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 614176 | ||||||
| chr5:614296
|
T | G | 1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.82+1853T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 614296 | ||||||
| chr5:614444
|
AT | A | 73 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(70): Show | 74 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.82+2023delT | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 614444 | |||||
| chr5:614444
|
ATT | A | 4 | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0028others(1): Show | 4 | HG00741.hp1 HG02015.hp1 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.82+2022_82+2023del others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 614444 | |||||
| chr5:614848
|
G | A | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.82+2405G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 614848 | ||||||
| chr5:614942
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.82+2499A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 614942 | ||||||
| chr5:615026
|
G | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.82+2583G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615026 | ||||||
| chr5:615043
|
G | A | 84 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(81): Show | 86 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.82+2600G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615043 | ||||||
| chr5:615078
|
C | G | 2 | a0001c0001t0001g0017a0001c0001t0001g0018 | 2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.82+2635C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615078 | ||||||
| chr5:615080
|
A | G | 1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.82+2637A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615080 | ||||||
| chr5:615134
|
C | CT | 11 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0027others(8): Show | 11 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.82+2709dupT | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 615134 | |||||
| chr5:615134
|
C | CTT | 32 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0042others(29): Show | 32 | HG00741.hp1 HG00741.hp2 HG01070.hp2 others(29): Show |
intron_variant | MODIFIER | c.82+2708_82+2709dup others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 615134 | |||||
| chr5:615134
|
C | CTTT | 17 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(14): Show | 17 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.82+2707_82+2709dup others(3): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 615134 | |||||
| chr5:615260
|
C | T | 64 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(61): Show | 64 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.82+2817C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615260 | ||||||
| chr5:615294
|
C | T | 1 | a0002c0002t0001g0087 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.82+2851C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615294 | ||||||
| chr5:615734
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-3256T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 615734 | ||||||
| chr5:616193
|
T | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-2797T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616193 | ||||||
| chr5:616342
|
T | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-2648T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616342 | ||||||
| chr5:616348
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-2642C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616348 | ||||||
| chr5:616413
|
T | C | 64 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(61): Show | 64 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.83-2577T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616413 | ||||||
| chr5:616645
|
A | G | 84 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(81): Show | 86 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.83-2345A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616645 | ||||||
| chr5:616666
|
C | T | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-2324C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616666 | ||||||
| chr5:616724
|
G | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-2266G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616724 | ||||||
| chr5:616775
|
G | A | 45 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(42): Show | 45 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.83-2215G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616775 | ||||||
| chr5:616812
|
GTGTA | G | 20 | a0001c0001t0001g0042a0002c0002t0001g0070a0002c0002t0001g0071others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.83-2174_83-2171del others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 616812 | |||||
| chr5:616814
|
GTA | G | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.83-2174_83-2173del others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 616814 | |||||
| chr5:616816
|
A | G | 43 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(40): Show | 44 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.83-2174A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616816 | ||||||
| chr5:616829
|
T | C | 2 | a0001c0001t0001g0005a0001c0001t0001g0045 | 2 | HG02602.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.83-2161T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616829 | ||||||
| chr5:616831
|
T | C | 32 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(29): Show | 32 | HG00673.hp2 HG00735.hp2 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.83-2159T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616831 | ||||||
| chr5:616831
|
T | TGC | 10 | a0001c0001t0001g0027a0001c0001t0001g0032a0001c0001t0001g0033others(7): Show | 10 | HG00673.hp1 HG01243.hp2 HG03942.hp1 others(7): Show |
intron_variant | MODIFIER | c.83-2153_83-2152dup others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 616831 | |||||
| chr5:616838
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-2152G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 616838 | ||||||
| chr5:616839
|
AGTGGGGG others(111): Show |
A | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.83-2114_83-1997del | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | 616839 | |||||
| chr5:617223
|
C | T | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.83-1767C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617223 | ||||||
| chr5:617270
|
G | A | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-1720G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617270 | ||||||
| chr5:617317
|
T | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-1673T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617317 | ||||||
| chr5:617593
|
G | A | 64 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(61): Show | 64 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.83-1397G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617593 | ||||||
| chr5:617635
|
A | G | 64 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(61): Show | 64 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.83-1355A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617635 | ||||||
| chr5:617721
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-1269C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617721 | ||||||
| chr5:617771
|
G | A | 64 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(61): Show | 65 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.83-1219G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617771 | ||||||
| chr5:617819
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-1171C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617819 | ||||||
| chr5:617877
|
A | T | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-1113A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617877 | ||||||
| chr5:617977
|
A | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-1013A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617977 | ||||||
| chr5:617982
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-1008T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617982 | ||||||
| chr5:617992
|
G | A | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-998G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 617992 | ||||||
| chr5:618389
|
A | T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.83-601A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618389 | ||||||
| chr5:618418
|
CAT | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-571_83-570delAT | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618418 | ||||||
| chr5:618428
|
A | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-562A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618428 | ||||||
| chr5:618471
|
A | G | 20 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(17): Show | 21 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.83-519A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618471 | ||||||
| chr5:618742
|
A | T | 1 | a0001c0001t0001g0060 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.83-248A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618742 | ||||||
| chr5:618907
|
C | T | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.83-83C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618907 | ||||||
| chr5:618927
|
T | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.83-63T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1/11 | chr5 | 618927 | ||||||
| chr5:619153
|
A | G | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.210+36A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619153 | ||||||
| chr5:619205
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.210+88C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619205 | ||||||
| chr5:619218
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.210+101T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619218 | ||||||
| chr5:619394
|
C | G | 1 | a0001c0001t0001g0013 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.210+277C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619394 | ||||||
| chr5:619538
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.210+421T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619538 | ||||||
| chr5:619620
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.211-449A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619620 | ||||||
| chr5:619700
|
C | G | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.211-369C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619700 | ||||||
| chr5:619792
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.211-277G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619792 | ||||||
| chr5:619816
|
C | T | 2 | a0001c0001t0001g0017a0001c0001t0001g0018 | 2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.211-253C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 2/11 | chr5 | 619816 | ||||||
| chr5:620397
|
G | T | 1 | a0001c0001t0001g0031 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.403+136G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 620397 | ||||||
| chr5:620631
|
G | C | 1 | a0001c0001t0001g0045 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.403+370G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 620631 | ||||||
| chr5:620891
|
G | T | 2 | a0001c0001t0001g0059a0001c0001t0001g0062 | 2 | NA18971.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.403+630G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 620891 | ||||||
| chr5:620954
|
G | A | 1 | a0001c0001t0001g0046 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.403+693G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 620954 | ||||||
| chr5:621359
|
T | A | 1 | a0001c0001t0001g0031 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.403+1098T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 621359 | ||||||
| chr5:621727
|
A | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.403+1466A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 621727 | ||||||
| chr5:621805
|
G | A | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.403+1544G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 621805 | ||||||
| chr5:621889
|
G | T | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0016others(64): Show | 68 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(65): Show |
intron_variant | MODIFIER | c.403+1628G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 621889 | ||||||
| chr5:622023
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.403+1762T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 622023 | ||||||
| chr5:622284
|
A | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.403+2023A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 622284 | ||||||
| chr5:622584
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.404-1887G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 622584 | ||||||
| chr5:622636
|
G | A | 9 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(6): Show | 10 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.404-1835G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 622636 | ||||||
| chr5:622754
|
A | AC | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.404-1710dupC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | 622754 | |||||
| chr5:623111
|
G | T | 1 | a0001c0001t0001g0060 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.404-1360G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 623111 | ||||||
| chr5:623618
|
G | A | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.404-853G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 623618 | ||||||
| chr5:624208
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.404-263G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624208 | ||||||
| chr5:624305
|
G | A | 2 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | HG02129.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.404-166G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624305 | ||||||
| chr5:624341
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.404-130C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624341 | ||||||
| chr5:624396
|
G | A | 1 | a0002c0002t0001g0073 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.404-75G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624396 | ||||||
| chr5:624401
|
G | A | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.404-70G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624401 | ||||||
| chr5:624419
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.404-52C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624419 | ||||||
| chr5:624423
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.404-48C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3/11 | chr5 | 624423 | ||||||
| chr5:624729
|
C | T | 1 | a0001c0001t0001g0061 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.512+150C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 624729 | ||||||
| chr5:624896
|
C | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+317C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 624896 | ||||||
| chr5:625093
|
G | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.512+514G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 625093 | ||||||
| chr5:625432
|
G | A | 1 | a0001c0001t0001g0031 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.512+853G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 625432 | ||||||
| chr5:625555
|
A | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 66 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.512+976A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 625555 | ||||||
| chr5:625594
|
T | C | 2 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+1015T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 625594 | ||||||
| chr5:625923
|
G | A | 1 | a0002c0002t0001g0073 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.512+1344G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 625923 | ||||||
| chr5:626041
|
TG | T | 80 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(77): Show | 82 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(79): Show |
intron_variant | MODIFIER | c.512+1468delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 626041 | |||||
| chr5:626049
|
AG | A | 84 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(81): Show | 86 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.512+1478delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 626049 | |||||
| chr5:626081
|
A | T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.512+1502A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 626081 | ||||||
| chr5:626163
|
A | G | 45 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(42): Show | 45 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.512+1584A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 626163 | ||||||
| chr5:626526
|
A | G | 1 | a0001c0001t0001g0046 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.512+1947A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 626526 | ||||||
| chr5:626548
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+1969A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 626548 | ||||||
| chr5:626841
|
A | G | 68 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(65): Show | 69 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.512+2262A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 626841 | ||||||
| chr5:627025
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.512+2446C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627025 | ||||||
| chr5:627416
|
C | CTAAA | 44 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(41): Show | 46 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.512+2837_512+2838i others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627416 | ||||||
| chr5:627582
|
T | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+3003T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627582 | ||||||
| chr5:627928
|
C | T | 3 | a0001c0001t0001g0016a0001c0006t0001g0012a0001c0006t0001g0024 | 3 | HG01255.hp1 NA18948.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.512+3349C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627928 | ||||||
| chr5:627977
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+3398G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627977 | ||||||
| chr5:627986
|
C | T | 3 | a0003c0003t0002g0020a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.512+3407C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 627986 | ||||||
| chr5:628179
|
G | A | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.512+3600G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628179 | ||||||
| chr5:628367
|
C | CCCCAGGA others(462): Show |
1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+3836_512+3837i others(471): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628367 | |||||
| chr5:628418
|
A | C | 1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+3839A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628418 | ||||||
| chr5:628420
|
G | T | 1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+3841G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628420 | ||||||
| chr5:628430
|
T | G | 2 | a0003c0003t0002g0020a0004c0004t0003g0002 | 3 | NA18971.hp1 NA19065.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.512+3851T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628430 | ||||||
| chr5:628433
|
G | T | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+3854G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628433 | ||||||
| chr5:628434
|
C | T | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+3855C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628434 | ||||||
| chr5:628448
|
G | C | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+3869G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628448 | ||||||
| chr5:628482
|
T | C | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+3903T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628482 | ||||||
| chr5:628485
|
C | A | 3 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023 | 3 | HG01256.hp2 HG01258.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.512+3906C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628485 | ||||||
| chr5:628488
|
C | CCCTGGGG others(263): Show |
1 | a0001c0001t0001g0062 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.512+3972_512+3973i others(272): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628488 | |||||
| chr5:628491
|
T | C | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+3912T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628491 | ||||||
| chr5:628501
|
T | TCCCAGGA others(462): Show |
1 | a0001c0001t0001g0013 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.512+3935_512+3936i others(471): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628501 | |||||
| chr5:628506
|
G | C | 1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.512+3927G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628506 | ||||||
| chr5:628506
|
G | GGACCCAG others(127): Show |
1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.512+3935_512+3936i others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628506 | |||||
| chr5:628515
|
C | CCCCTTCT others(396): Show |
1 | a0001c0001t0001g0011 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.512+3969_512+3970i others(405): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628515 | |||||
| chr5:628515
|
C | G | 2 | a0001c0001t0001g0013a0003c0005t0002g0019 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.512+3936C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628515 | ||||||
| chr5:628545
|
A | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+3966A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628545 | ||||||
| chr5:628549
|
T | C | 4 | a0001c0001t0001g0010a0003c0003t0002g0020a0003c0003t0002g0022others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+3970T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628549 | ||||||
| chr5:628552
|
A | C | 1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.512+3973A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628552 | ||||||
| chr5:628555
|
C | CCCCGGGG others(530): Show |
1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.512+4019_512+4020i others(539): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628555 | |||||
| chr5:628568
|
T | TCCCAGGA others(329): Show |
1 | a0002c0002t0001g0071 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.512+4019_512+4020i others(338): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628568 | |||||
| chr5:628568
|
T | TCCCAGGA others(464): Show |
2 | a0002c0002t0001g0070a0002c0002t0001g0074 | 2 | NA18942.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.512+4019_512+4020i others(473): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628568 | |||||
| chr5:628568
|
T | TCCCAGGA others(262): Show |
15 | a0002c0002t0001g0072a0002c0002t0001g0073a0002c0002t0001g0075others(12): Show | 15 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.512+4019_512+4020i others(271): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628568 | |||||
| chr5:628568
|
T | TCCCAGGA others(329): Show |
1 | a0002c0002t0001g0084 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.512+4019_512+4020i others(338): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628568 | |||||
| chr5:628573
|
G | C | 11 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 11 | HG01192.hp1 HG01256.hp1 HG01257.hp2 others(8): Show |
intron_variant | MODIFIER | c.512+3994G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628573 | ||||||
| chr5:628573
|
G | GGACCCAG others(731): Show |
1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.512+4032_512+4033i others(740): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628573 | |||||
| chr5:628582
|
C | CCCCTTCT others(61): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+4019_512+4020i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628582 | |||||
| chr5:628582
|
C | CCCCTTCT others(128): Show |
1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.512+4019_512+4020i others(137): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628582 | |||||
| chr5:628601
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+4022C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628601 | ||||||
| chr5:628612
|
A | T | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.512+4033A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628612 | ||||||
| chr5:628615
|
T | TTACCATC others(120): Show |
2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+4036_512+4037i others(129): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628615 | ||||||
| chr5:628616
|
C | CACGGTTC others(128): Show |
1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.512+4037_512+4038i others(137): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628616 | ||||||
| chr5:628616
|
C | T | 70 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(67): Show | 71 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(68): Show |
intron_variant | MODIFIER | c.512+4037C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628616 | ||||||
| chr5:628617
|
G | A | 10 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 10 | HG01192.hp1 HG01256.hp1 HG01257.hp2 others(7): Show |
intron_variant | MODIFIER | c.512+4038G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628617 | ||||||
| chr5:628617
|
G | T | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+4038G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628617 | ||||||
| chr5:628619
|
A | C | 55 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(52): Show | 57 | HG00673.hp2 HG00735.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.512+4040A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628619 | ||||||
| chr5:628620
|
G | A | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.512+4041G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628620 | ||||||
| chr5:628620
|
G | GGTTACCA | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+4041_512+4042i others(9): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628620 | ||||||
| chr5:628620
|
G | GTCCCCAG others(263): Show |
1 | a0001c0001t0001g0031 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.512+4046_512+4047i others(272): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628620 | |||||
| chr5:628622
|
C | T | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.512+4043C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628622 | ||||||
| chr5:628625
|
C | CAGGGAGT others(61): Show |
27 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(24): Show | 27 | HG00673.hp2 HG00735.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.512+4046_512+4047i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628625 | ||||||
| chr5:628625
|
C | CAGGGAGT others(397): Show |
2 | a0001c0001t0001g0039a0001c0001t0001g0056 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.512+4046_512+4047i others(406): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628625 | ||||||
| chr5:628625
|
C | CAGGGAGT others(330): Show |
3 | a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065 | 3 | HG01192.hp2 NA18950.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.512+4046_512+4047i others(339): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628625 | ||||||
| chr5:628625
|
C | CAGGGAGT others(531): Show |
1 | a0001c0001t0001g0058 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.512+4046_512+4047i others(540): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628625 | ||||||
| chr5:628625
|
C | CGGGGAGT others(128): Show |
3 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0059 | 3 | HG00673.hp1 NA18971.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.512+4054_512+4055i others(137): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628625 | |||||
| chr5:628625
|
C | T | 2 | a0001c0001t0001g0066a0003c0005t0002g0014 | 2 | HG01243.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.512+4046C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628625 | ||||||
| chr5:628626
|
G | A | 7 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(4): Show | 7 | HG02129.hp1 HG02451.hp1 HG03669.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+4047G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628626 | ||||||
| chr5:628626
|
G | AGGGAGTG others(61): Show |
1 | a0001c0001t0001g0001 | 2 | HG01069.hp1 HG01070.hp1 |
intron_variant | MODIFIER | c.512+4046_512+4047i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628626 | ||||||
| chr5:628626
|
G | GGGGAGTG others(395): Show |
1 | a0001c0001t0001g0016 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.512+4054_512+4055i others(404): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628626 | |||||
| chr5:628634
|
G | T | 28 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0006t0001g0012others(25): Show | 29 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.512+4055G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628634 | ||||||
| chr5:628635
|
C | CCCCAGGA others(398): Show |
1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.512+4069_512+4070i others(407): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628635 | |||||
| chr5:628635
|
C | CCCCAGGA others(61): Show |
2 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | HG02129.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.512+4069_512+4070i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628635 | |||||
| chr5:628635
|
C | T | 28 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0006t0001g0012others(25): Show | 29 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.512+4056C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628635 | ||||||
| chr5:628640
|
G | C | 4 | a0001c0001t0001g0004a0001c0006t0001g0012a0001c0006t0001g0024others(1): Show | 4 | HG01255.hp1 HG02015.hp1 NA18950.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4061G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628640 | ||||||
| chr5:628649
|
C | G | 5 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0029others(2): Show | 5 | HG02451.hp1 HG03669.hp2 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.512+4070C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628649 | ||||||
| chr5:628665
|
C | CG | 4 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(1): Show | 4 | HG02451.hp1 HG03669.hp2 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4086_512+4087i others(3): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628665 | ||||||
| chr5:628683
|
C | T | 26 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0013others(23): Show | 26 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(23): Show |
intron_variant | MODIFIER | c.512+4104C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628683 | ||||||
| chr5:628684
|
A | ACCGTCCC others(261): Show |
2 | a0001c0006t0001g0012a0001c0006t0001g0024 | 2 | HG01255.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.512+4106_512+4107i others(270): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628684 | |||||
| chr5:628684
|
A | ACCGTCCC others(127): Show |
1 | a0001c0001t0001g0004 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.512+4106_512+4107i others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628684 | |||||
| chr5:628684
|
A | G | 38 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(35): Show | 38 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(35): Show |
intron_variant | MODIFIER | c.512+4105A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628684 | ||||||
| chr5:628686
|
A | AGTCCCTG others(61): Show |
1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+4108_512+4109i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628686 | |||||
| chr5:628686
|
A | C | 25 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0016others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.512+4107A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628686 | ||||||
| chr5:628687
|
G | A | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.512+4108G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628687 | ||||||
| chr5:628688
|
G | T | 41 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(38): Show | 41 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(38): Show |
intron_variant | MODIFIER | c.512+4109G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628688 | ||||||
| chr5:628692
|
C | CGGGGAGT others(127): Show |
1 | a0001c0001t0001g0028 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.512+4194_512+4195i others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628692 | |||||
| chr5:628692
|
C | T | 5 | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0032others(2): Show | 5 | HG02109.hp1 HG03669.hp2 NA18963.hp1 others(2): Show |
intron_variant | MODIFIER | c.512+4113C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628692 | ||||||
| chr5:628701
|
T | G | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048 | 3 | HG03669.hp2 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4122T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628701 | ||||||
| chr5:628702
|
T | C | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048 | 3 | HG03669.hp2 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4123T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628702 | ||||||
| chr5:628702
|
T | TCCCAGGA others(127): Show |
1 | a0001c0001t0001g0055 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.512+4246_512+4247i others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628702 | |||||
| chr5:628707
|
G | GGACCCAG others(194): Show |
2 | a0001c0001t0001g0006a0001c0001t0001g0008 | 2 | HG01257.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.512+4170_512+4171i others(203): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628707 | |||||
| chr5:628707
|
G | GGACCCAG others(462): Show |
1 | a0001c0001t0001g0009 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.512+4170_512+4171i others(471): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628707 | |||||
| chr5:628707
|
G | GGACCCAG others(395): Show |
1 | a0001c0001t0001g0025 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.512+4170_512+4171i others(404): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628707 | |||||
| chr5:628716
|
C | CCCCTTCT others(328): Show |
2 | a0001c0001t0001g0017a0001c0001t0001g0018 | 2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.512+4170_512+4171i others(337): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628716 | |||||
| chr5:628716
|
C | CCCCTTCT others(60): Show |
2 | a0001c0001t0001g0011a0001c0001t0001g0013 | 2 | HG02109.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.512+4173_512+4174i others(69): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628716 | |||||
| chr5:628735
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+4156C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628735 | ||||||
| chr5:628746
|
A | T | 1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+4167A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628746 | ||||||
| chr5:628750
|
T | C | 7 | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0032others(4): Show | 8 | HG02451.hp2 HG03669.hp2 NA18963.hp1 others(5): Show |
intron_variant | MODIFIER | c.512+4171T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628750 | ||||||
| chr5:628751
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048 | 3 | HG03669.hp2 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4172G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628751 | ||||||
| chr5:628753
|
A | AGTCCCTG others(463): Show |
1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.512+4179_512+4180i others(472): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628753 | |||||
| chr5:628753
|
A | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0007a0004c0004t0003g0002 | 4 | HG01192.hp1 HG02109.hp1 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4174A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628753 | ||||||
| chr5:628755
|
T | G | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048 | 3 | HG03669.hp2 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4176T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628755 | ||||||
| chr5:628759
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.512+4180C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628759 | ||||||
| chr5:628769
|
T | TCCCAGGA others(261): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.512+4194_512+4195i others(270): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628769 | |||||
| chr5:628774
|
C | CGACCCAG others(195): Show |
1 | a0002c0002t0001g0084 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.512+4355_512+4356i others(204): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628774 | |||||
| chr5:628774
|
C | G | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(11): Show | 15 | HG01192.hp1 HG01256.hp1 HG02015.hp1 others(12): Show |
intron_variant | MODIFIER | c.512+4195C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628774 | ||||||
| chr5:628782
|
C | G | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.512+4203C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628782 | ||||||
| chr5:628799
|
C | CTTTTGGA others(532): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.512+4222_512+4223i others(541): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628799 | |||||
| chr5:628817
|
T | C | 2 | a0001c0001t0001g0010a0003c0003t0002g0020 | 2 | HG02258.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.512+4238T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628817 | ||||||
| chr5:628818
|
G | A | 6 | a0001c0001t0001g0010a0001c0001t0001g0029a0001c0001t0001g0032others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.512+4239G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628818 | ||||||
| chr5:628820
|
C | A | 4 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048others(1): Show | 4 | HG03669.hp2 NA18963.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+4241C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628820 | ||||||
| chr5:628820
|
C | G | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+4241C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628820 | ||||||
| chr5:628821
|
G | A | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+4242G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628821 | ||||||
| chr5:628822
|
T | G | 2 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4243T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628822 | ||||||
| chr5:628823
|
C | T | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+4244C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628823 | ||||||
| chr5:628826
|
C | T | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.512+4247C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628826 | ||||||
| chr5:628827
|
A | G | 8 | a0001c0001t0001g0010a0001c0001t0001g0029a0001c0001t0001g0032others(5): Show | 8 | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.512+4248A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628827 | ||||||
| chr5:628835
|
G | T | 5 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048others(2): Show | 5 | HG03669.hp2 NA18963.hp1 NA19007.hp2 others(2): Show |
intron_variant | MODIFIER | c.512+4256G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628835 | ||||||
| chr5:628836
|
C | T | 5 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048others(2): Show | 5 | HG03669.hp2 NA18963.hp1 NA19007.hp2 others(2): Show |
intron_variant | MODIFIER | c.512+4257C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628836 | ||||||
| chr5:628841
|
G | C | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048 | 3 | HG03669.hp2 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.512+4262G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628841 | ||||||
| chr5:628850
|
G | C | 7 | a0001c0001t0001g0010a0001c0001t0001g0029a0001c0001t0001g0032others(4): Show | 7 | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+4271G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628850 | ||||||
| chr5:628866
|
C | CTTCTGGA others(260): Show |
1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+4287_512+4288i others(269): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628866 | ||||||
| chr5:628866
|
C | CTTCTGGA others(193): Show |
1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.512+4287_512+4288i others(202): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628866 | ||||||
| chr5:628866
|
CG | C | 8 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0048others(5): Show | 8 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.512+4288delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628866 | ||||||
| chr5:628867
|
G | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0010 | 2 | HG01192.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.512+4288G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628867 | ||||||
| chr5:628888
|
C | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4309C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628888 | ||||||
| chr5:628890
|
T | TCCCCGGG others(61): Show |
2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.512+4314_512+4315i others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628890 | |||||
| chr5:628894
|
T | C | 11 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0032others(8): Show | 11 | HG01192.hp1 HG01256.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+4315T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628894 | ||||||
| chr5:628895
|
G | A | 6 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0032others(3): Show | 6 | HG01192.hp1 HG02451.hp2 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.512+4316G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628895 | ||||||
| chr5:628903
|
G | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4324G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628903 | ||||||
| chr5:628904
|
C | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+4325C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628904 | ||||||
| chr5:628909
|
G | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.512+4330G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628909 | ||||||
| chr5:628918
|
C | CCCCTTCT others(127): Show |
8 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(5): Show | 9 | HG01069.hp1 HG01070.hp1 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.512+4355_512+4356i others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628918 | |||||
| chr5:628918
|
C | G | 4 | a0001c0001t0001g0007a0001c0001t0001g0048a0003c0005t0002g0014others(1): Show | 4 | HG01192.hp1 HG02451.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+4339C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628918 | ||||||
| chr5:628953
|
C | T | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4374C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628953 | ||||||
| chr5:628954
|
A | ACAGGCCC others(60): Show |
1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.512+4423_512+4424i others(69): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 628954 | |||||
| chr5:628954
|
A | G | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4375A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628954 | ||||||
| chr5:628956
|
A | C | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4377A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628956 | ||||||
| chr5:628958
|
G | T | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4379G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628958 | ||||||
| chr5:628962
|
C | T | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4383C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628962 | ||||||
| chr5:628971
|
T | G | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4392T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628971 | ||||||
| chr5:628972
|
T | C | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.512+4393T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 628972 | ||||||
| chr5:629423
|
ACCAGTCC others(188): Show |
A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-4331_513-4137d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629423 | |||||
| chr5:629438
|
A | G | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-4331A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629438 | ||||||
| chr5:629462
|
CCCAGTCC others(32): Show |
C | 1 | a0001c0001t0001g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.513-4229_513-4191d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629462 | |||||
| chr5:629501
|
A | C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-4268A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629501 | ||||||
| chr5:629540
|
A | C | 3 | a0001c0001t0001g0042a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG01175.hp2 HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-4229A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629540 | ||||||
| chr5:629580
|
CCAGTCCT others(149): Show |
C | 1 | a0001c0001t0001g0025 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.513-4113_513-3958d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629580 | |||||
| chr5:629619
|
CCAGTCCT others(110): Show |
C | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 17 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-4113_513-3997d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629619 | |||||
| chr5:629697
|
CCAGTCCT others(32): Show |
C | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-4035_513-3997d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629697 | |||||
| chr5:629722
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-4047T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629722 | ||||||
| chr5:629734
|
A | G | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-4035A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629734 | ||||||
| chr5:629736
|
T | C | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-4033T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629736 | ||||||
| chr5:629761
|
T | C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-4008T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629761 | ||||||
| chr5:629773
|
GCCCAGTC others(344): Show |
G | 3 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041 | 3 | HG00673.hp2 NA18948.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.513-3852_513-3502d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629773 | |||||
| chr5:629800
|
T | C | 8 | a0001c0001t0001g0035a0001c0001t0001g0036a0003c0003t0002g0020others(5): Show | 8 | HG01256.hp2 HG01258.hp1 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.513-3969T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629800 | ||||||
| chr5:629851
|
G | GACCAGTC others(228): Show |
1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3918_513-3917i others(237): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629851 | ||||||
| chr5:629878
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3891C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629878 | ||||||
| chr5:629891
|
C | A | 42 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(39): Show | 44 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.513-3878C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629891 | ||||||
| chr5:629917
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3852T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629917 | ||||||
| chr5:629919
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3850T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629919 | ||||||
| chr5:629929
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3840A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629929 | ||||||
| chr5:629945
|
G | GT | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-3823dupT | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 629945 | |||||
| chr5:629947
|
G | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3822G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629947 | ||||||
| chr5:629956
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3813T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629956 | ||||||
| chr5:629967
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3802A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629967 | ||||||
| chr5:629969
|
A | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3800A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629969 | ||||||
| chr5:629998
|
T | C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-3771T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 629998 | ||||||
| chr5:630032
|
A | C | 1 | a0001c0001t0001g0060 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.513-3737A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630032 | ||||||
| chr5:630036
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3733T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630036 | ||||||
| chr5:630046
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3723A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630046 | ||||||
| chr5:630064
|
G | T | 3 | a0001c0001t0001g0035a0001c0001t0001g0036a0003c0005t0002g0014 | 3 | HG02129.hp1 HG02451.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.513-3705G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630064 | ||||||
| chr5:630077
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.513-3692G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630077 | ||||||
| chr5:630084
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.513-3685A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630084 | ||||||
| chr5:630085
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.513-3684G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630085 | ||||||
| chr5:630086
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.513-3683A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630086 | ||||||
| chr5:630086
|
ACCAGTCC others(32): Show |
A | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.513-3654_513-3616d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630086 | |||||
| chr5:630086
|
ACCAGTCC others(384): Show |
A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-3654_513-3264d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630086 | |||||
| chr5:630086
|
ACCAGTCC others(1046): Show |
A | 1 | a0001c0001t0001g0016 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.513-3654_513-2602d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630086 | |||||
| chr5:630115
|
T | C | 6 | a0001c0001t0001g0049a0003c0003t0002g0020a0003c0003t0002g0022others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-3654T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630115 | ||||||
| chr5:630115
|
TGGGATTT others(384): Show |
T | 1 | a0002c0002t0001g0083 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.513-3501_513-3111d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630115 | |||||
| chr5:630145
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3624G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630145 | ||||||
| chr5:630151
|
T | C | 5 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041others(2): Show | 5 | HG00673.hp2 HG01243.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-3618T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630151 | ||||||
| chr5:630151
|
TGCCGGGA others(890): Show |
T | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-3501_513-2605d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630151 | |||||
| chr5:630163
|
GCCCAGTC others(851): Show |
G | 39 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(36): Show | 40 | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(37): Show |
intron_variant | MODIFIER | c.513-3373_513-2516d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630163 | |||||
| chr5:630164
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3605C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630164 | ||||||
| chr5:630190
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.513-3579C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630190 | ||||||
| chr5:630202
|
GCCCAGTC others(812): Show |
G | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 16 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-3462_513-2644d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630202 | |||||
| chr5:630242
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3527C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630242 | ||||||
| chr5:630268
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3501C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630268 | ||||||
| chr5:630281
|
C | A | 2 | a0001c0001t0001g0015a0003c0005t0002g0014 | 2 | HG02451.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.513-3488C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630281 | ||||||
| chr5:630309
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3460C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630309 | ||||||
| chr5:630319
|
A | G | 2 | a0001c0001t0001g0037a0003c0005t0002g0014 | 2 | HG00673.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.513-3450A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630319 | ||||||
| chr5:630337
|
T | G | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3432T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630337 | ||||||
| chr5:630357
|
G | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3412G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630357 | ||||||
| chr5:630358
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3411G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630358 | ||||||
| chr5:630359
|
C | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3410C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630359 | ||||||
| chr5:630388
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3381C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630388 | ||||||
| chr5:630395
|
T | TA | 5 | a0001c0001t0001g0054a0003c0003t0002g0020a0003c0003t0002g0022others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-3374_513-3373i others(3): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630395 | ||||||
| chr5:630396
|
GACCCAAG others(851): Show |
G | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032 | 3 | NA18960.hp1 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.513-3372_513-2515d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630396 | ||||||
| chr5:630397
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3372A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630397 | ||||||
| chr5:630398
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3371C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630398 | ||||||
| chr5:630399
|
CCA | C | 5 | a0001c0001t0001g0054a0003c0003t0002g0020a0003c0003t0002g0022others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-3369_513-3368d others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630399 | ||||||
| chr5:630400
|
CA | C | 5 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(2): Show | 5 | HG00673.hp2 HG02451.hp2 NA18948.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-3367delA | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630400 | |||||
| chr5:630427
|
C | T | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3342C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630427 | ||||||
| chr5:630428
|
C | T | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.513-3341C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630428 | ||||||
| chr5:630437
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3332A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630437 | ||||||
| chr5:630455
|
T | G | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3314T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630455 | ||||||
| chr5:630458
|
G | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3311G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630458 | ||||||
| chr5:630464
|
T | C | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-3305T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630464 | ||||||
| chr5:630475
|
G | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3294G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630475 | ||||||
| chr5:630477
|
C | A | 4 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(1): Show | 4 | HG00673.hp2 NA18948.hp2 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3292C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630477 | ||||||
| chr5:630497
|
G | A | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-3272G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630497 | ||||||
| chr5:630503
|
T | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3266T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630503 | ||||||
| chr5:630506
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.513-3263C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630506 | ||||||
| chr5:630515
|
A | G | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-3254A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630515 | ||||||
| chr5:630542
|
T | C | 5 | a0001c0001t0001g0054a0003c0003t0002g0020a0003c0003t0002g0022others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-3227T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630542 | ||||||
| chr5:630554
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-3215G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630554 | ||||||
| chr5:630554
|
GCCCAGTC others(460): Show |
G | 2 | a0001c0001t0001g0034a0001c0001t0001g0037 | 2 | HG00673.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.513-3110_513-2644d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630554 | |||||
| chr5:630555
|
C | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3214C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630555 | ||||||
| chr5:630581
|
C | T | 2 | a0003c0003t0002g0020a0003c0005t0002g0014 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3188C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630581 | ||||||
| chr5:630593
|
GCCCAGTC others(421): Show |
G | 3 | a0001c0001t0001g0015a0001c0001t0001g0041a0003c0003t0002g0022 | 3 | HG01258.hp1 NA18948.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.513-3110_513-2683d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630593 | |||||
| chr5:630594
|
C | A | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3175C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630594 | ||||||
| chr5:630633
|
C | A | 4 | a0001c0001t0001g0054a0003c0003t0002g0020a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG04115.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-3136C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630633 | ||||||
| chr5:630659
|
T | C | 5 | a0001c0001t0001g0054a0003c0003t0002g0020a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG02451.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-3110T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630659 | ||||||
| chr5:630670
|
GACCCAGT others(342): Show |
G | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-3098_513-2750d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630670 | ||||||
| chr5:630671
|
A | G | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0005t0002g0014 | 3 | HG01256.hp2 HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3098A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630671 | ||||||
| chr5:630672
|
C | A | 2 | a0003c0003t0002g0020a0003c0003t0002g0023 | 2 | HG01256.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3097C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630672 | ||||||
| chr5:630672
|
C | CCAGTCCT others(225): Show |
1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-3096_513-3095i others(234): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630672 | |||||
| chr5:630681
|
G | A | 1 | a0002c0002t0001g0083 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.513-3088G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630681 | ||||||
| chr5:630698
|
T | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0005t0002g0014 | 3 | HG01256.hp2 HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3071T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630698 | ||||||
| chr5:630711
|
C | A | 2 | a0003c0003t0002g0020a0003c0003t0002g0023 | 2 | HG01256.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3058C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630711 | ||||||
| chr5:630737
|
T | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0005t0002g0014 | 3 | HG01256.hp2 HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3032T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630737 | ||||||
| chr5:630748
|
A | G | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0005t0002g0014 | 3 | HG01256.hp2 HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-3021A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630748 | ||||||
| chr5:630750
|
ACCAGTCC others(265): Show |
A | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2993_513-2722d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630750 | |||||
| chr5:630750
|
ACCAGTCC others(616): Show |
A | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-2993_513-2371d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630750 | |||||
| chr5:630778
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2991C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630778 | ||||||
| chr5:630780
|
G | T | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-2989G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630780 | ||||||
| chr5:630789
|
C | CCCAGTCC others(33): Show |
1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2963_513-2962i others(42): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630789 | |||||
| chr5:630809
|
A | G | 2 | a0001c0001t0001g0054a0003c0005t0002g0014 | 2 | HG02451.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.513-2960A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630809 | ||||||
| chr5:630827
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2942G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630827 | ||||||
| chr5:630827
|
GCCCAGTC others(460): Show |
G | 1 | a0002c0002t0001g0083 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.513-2903_513-2437d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 630827 | |||||
| chr5:630828
|
C | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-2941C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630828 | ||||||
| chr5:630854
|
T | C | 2 | a0001c0001t0001g0054a0003c0005t0002g0019 | 2 | HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2915T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630854 | ||||||
| chr5:630856
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2913C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630856 | ||||||
| chr5:630866
|
A | G | 2 | a0001c0001t0001g0054a0003c0005t0002g0019 | 2 | HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2903A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630866 | ||||||
| chr5:630884
|
T | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2885T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630884 | ||||||
| chr5:630893
|
T | C | 2 | a0001c0001t0001g0054a0003c0005t0002g0019 | 2 | HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2876T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630893 | ||||||
| chr5:630904
|
A | G | 2 | a0001c0001t0001g0054a0003c0005t0002g0019 | 2 | HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2865A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630904 | ||||||
| chr5:630906
|
A | C | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-2863A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630906 | ||||||
| chr5:630935
|
C | T | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-2834C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630935 | ||||||
| chr5:630944
|
G | A | 2 | a0001c0001t0001g0054a0003c0005t0002g0014 | 2 | HG02451.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.513-2825G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630944 | ||||||
| chr5:630945
|
C | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-2824C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630945 | ||||||
| chr5:630954
|
G | A | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-2815G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630954 | ||||||
| chr5:630983
|
A | G | 3 | a0001c0001t0001g0054a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2786A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630983 | ||||||
| chr5:630984
|
C | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-2785C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 630984 | ||||||
| chr5:631010
|
T | C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2759T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631010 | ||||||
| chr5:631011
|
G | GC | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2757dupC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631011 | |||||
| chr5:631011
|
G | GCCGGGAT others(345): Show |
1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.513-2757_513-2756i others(354): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631011 | |||||
| chr5:631013
|
T | G | 3 | a0001c0001t0001g0054a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2756T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631013 | ||||||
| chr5:631021
|
A | G | 3 | a0001c0001t0001g0054a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2748A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631021 | ||||||
| chr5:631022
|
C | A | 2 | a0003c0003t0002g0022a0003c0005t0002g0019 | 2 | HG01258.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2747C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631022 | ||||||
| chr5:631061
|
C | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2708C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631061 | ||||||
| chr5:631087
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2682C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631087 | ||||||
| chr5:631099
|
G | A | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-2670G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631099 | ||||||
| chr5:631100
|
C | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2669C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631100 | ||||||
| chr5:631126
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2643C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631126 | ||||||
| chr5:631139
|
C | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2630C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631139 | ||||||
| chr5:631165
|
T | C | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2604T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631165 | ||||||
| chr5:631176
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2593G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631176 | ||||||
| chr5:631177
|
A | G | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2592A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631177 | ||||||
| chr5:631178
|
C | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG01258.hp1 HG02451.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2591C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631178 | ||||||
| chr5:631187
|
G | A | 36 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(33): Show | 38 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(35): Show |
intron_variant | MODIFIER | c.513-2582G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631187 | ||||||
| chr5:631204
|
T | C | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2565T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631204 | ||||||
| chr5:631216
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2553G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631216 | ||||||
| chr5:631217
|
C | A | 3 | a0003c0003t0002g0022a0003c0003t0002g0026a0003c0005t0002g0019 | 3 | HG01258.hp1 NA19010.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2552C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631217 | ||||||
| chr5:631243
|
T | C | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2526T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631243 | ||||||
| chr5:631247
|
G | A | 1 | a0002c0002t0001g0073 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.513-2522G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631247 | ||||||
| chr5:631254
|
A | G | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2515A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631254 | ||||||
| chr5:631256
|
A | C | 4 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(1): Show | 4 | HG01256.hp2 NA18960.hp1 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2513A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631256 | ||||||
| chr5:631282
|
T | C | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2487T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631282 | ||||||
| chr5:631294
|
A | G | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2475A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631294 | ||||||
| chr5:631295
|
C | A | 2 | a0003c0003t0002g0022a0003c0005t0002g0019 | 2 | HG01258.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2474C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631295 | ||||||
| chr5:631315
|
G | A | 37 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(34): Show | 39 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.513-2454G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631315 | ||||||
| chr5:631321
|
T | C | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2448T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631321 | ||||||
| chr5:631334
|
C | A | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2435C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631334 | ||||||
| chr5:631354
|
A | G | 6 | a0001c0001t0001g0068a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01255.hp2 HG01256.hp2 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.513-2415A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631354 | ||||||
| chr5:631360
|
T | C | 20 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(17): Show | 21 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.513-2409T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631360 | ||||||
| chr5:631372
|
A | G | 5 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-2397A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631372 | ||||||
| chr5:631373
|
C | A | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2396C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631373 | ||||||
| chr5:631399
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2370C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631399 | ||||||
| chr5:631412
|
C | A | 3 | a0003c0003t0002g0020a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2357C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631412 | ||||||
| chr5:631412
|
CCCAGTCC others(32): Show |
C | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-2253_513-2215d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631412 | |||||
| chr5:631438
|
C | T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2331C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631438 | ||||||
| chr5:631451
|
A | C | 4 | a0001c0001t0001g0063a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2318A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631451 | ||||||
| chr5:631477
|
C | T | 20 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(17): Show | 21 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.513-2292C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631477 | ||||||
| chr5:631490
|
A | C | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.513-2279A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631490 | ||||||
| chr5:631516
|
C | T | 20 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.513-2253C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631516 | ||||||
| chr5:631519
|
C | T | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2250C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631519 | ||||||
| chr5:631528
|
GACCAGTC others(342): Show |
G | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.513-2240_513-1892d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631528 | ||||||
| chr5:631529
|
A | C | 3 | a0003c0003t0002g0023a0003c0003t0002g0026a0003c0005t0002g0019 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2240A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631529 | ||||||
| chr5:631535
|
C | T | 20 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(17): Show | 21 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.513-2234C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631535 | ||||||
| chr5:631555
|
T | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014 | 3 | HG02451.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-2214T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631555 | ||||||
| chr5:631557
|
C | T | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2212C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631557 | ||||||
| chr5:631568
|
A | C | 3 | a0003c0003t0002g0023a0003c0003t0002g0026a0003c0005t0002g0019 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2201A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631568 | ||||||
| chr5:631574
|
T | C | 22 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(19): Show | 23 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(20): Show |
intron_variant | MODIFIER | c.513-2195T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631574 | ||||||
| chr5:631585
|
T | G | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2184T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631585 | ||||||
| chr5:631594
|
T | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014 | 3 | HG02451.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-2175T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631594 | ||||||
| chr5:631597
|
C | T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2172C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631597 | ||||||
| chr5:631605
|
G | A | 21 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(18): Show | 22 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.513-2164G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631605 | ||||||
| chr5:631607
|
A | C | 2 | a0003c0003t0002g0026a0003c0005t0002g0019 | 2 | NA19010.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2162A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631607 | ||||||
| chr5:631624
|
T | G | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2145T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631624 | ||||||
| chr5:631633
|
T | C | 2 | a0003c0003t0002g0020a0003c0005t0002g0014 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-2136T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631633 | ||||||
| chr5:631635
|
C | T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2134C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631635 | ||||||
| chr5:631636
|
C | T | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2133C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631636 | ||||||
| chr5:631645
|
G | A | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2124G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631645 | ||||||
| chr5:631646
|
C | A | 2 | a0001c0001t0001g0003a0003c0005t0002g0014 | 2 | HG02109.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.513-2123C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631646 | ||||||
| chr5:631646
|
CCCAGTCC others(537): Show |
C | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.513-2095_513-1552d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631646 | |||||
| chr5:631663
|
T | G | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2106T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631663 | ||||||
| chr5:631672
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2097T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631672 | ||||||
| chr5:631676
|
GGGATTTA others(186): Show |
G | 2 | a0003c0003t0002g0020a0003c0005t0002g0019 | 2 | NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-2086_513-1894d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631676 | |||||
| chr5:631683
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2086A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631683 | ||||||
| chr5:631702
|
T | G | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2067T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631702 | ||||||
| chr5:631711
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2058T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631711 | ||||||
| chr5:631714
|
T | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2055T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631714 | ||||||
| chr5:631714
|
TGGATTTG others(459): Show |
T | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-2052_513-1587d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631714 | |||||
| chr5:631722
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2047A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631722 | ||||||
| chr5:631723
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2046C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631723 | ||||||
| chr5:631740
|
G | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2029G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631740 | ||||||
| chr5:631746
|
C | G | 2 | a0001c0001t0001g0006a0001c0001t0001g0008 | 2 | HG01257.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.513-2023C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631746 | ||||||
| chr5:631749
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2020T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631749 | ||||||
| chr5:631760
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-2009A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631760 | ||||||
| chr5:631779
|
T | G | 1 | a0001c0001t0001g0068 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.513-1990T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631779 | ||||||
| chr5:631788
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1981T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631788 | ||||||
| chr5:631801
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1968C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631801 | ||||||
| chr5:631827
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1942T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631827 | ||||||
| chr5:631838
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1931A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631838 | ||||||
| chr5:631840
|
ACCAGTCC others(31): Show |
A | 1 | a0001c0001t0001g0049 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.513-1900_513-1863d others(40): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631840 | |||||
| chr5:631843
|
AGTCCTGG others(1512): Show |
A | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.513-1874_513-356de others(1): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631843 | |||||
| chr5:631866
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1903T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631866 | ||||||
| chr5:631867
|
G | GC | 4 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041others(1): Show | 4 | HG00673.hp2 HG02451.hp2 NA18948.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-1901dupC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 631867 | |||||
| chr5:631869
|
T | G | 4 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041others(1): Show | 4 | HG00673.hp2 HG02451.hp2 NA18948.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-1900T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631869 | ||||||
| chr5:631877
|
A | G | 3 | a0003c0003t0002g0020a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1892A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631877 | ||||||
| chr5:631878
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1891C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631878 | ||||||
| chr5:631904
|
T | C | 4 | a0003c0003t0002g0022a0003c0005t0002g0014a0003c0005t0002g0019others(1): Show | 5 | HG01258.hp1 HG02451.hp2 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-1865T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631904 | ||||||
| chr5:631916
|
G | A | 1 | a0001c0001t0001g0049 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.513-1853G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631916 | ||||||
| chr5:631917
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1852C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631917 | ||||||
| chr5:631956
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1813C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631956 | ||||||
| chr5:631983
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0001g0056 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.513-1786G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 631983 | ||||||
| chr5:632021
|
T | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0022 | 2 | HG01258.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1748T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632021 | ||||||
| chr5:632023
|
C | T | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1746C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632023 | ||||||
| chr5:632024
|
T | C | 20 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(17): Show | 22 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.513-1745T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632024 | ||||||
| chr5:632033
|
A | G | 3 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0005t0002g0014 | 3 | HG01258.hp1 HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1736A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632033 | ||||||
| chr5:632043
|
A | G | 6 | a0001c0001t0001g0055a0001c0001t0001g0066a0003c0003t0002g0020others(3): Show | 6 | HG01243.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-1726A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632043 | ||||||
| chr5:632051
|
T | G | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1718T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632051 | ||||||
| chr5:632062
|
C | T | 2 | a0003c0003t0002g0020a0003c0003t0002g0022 | 2 | HG01258.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1707C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632062 | ||||||
| chr5:632071
|
G | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1698G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632071 | ||||||
| chr5:632073
|
C | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1696C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632073 | ||||||
| chr5:632090
|
T | G | 3 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0005t0002g0019 | 3 | HG01258.hp1 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1679T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632090 | ||||||
| chr5:632110
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1659A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632110 | ||||||
| chr5:632112
|
A | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1657A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632112 | ||||||
| chr5:632129
|
T | G | 3 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0005t0002g0019 | 3 | HG01258.hp1 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1640T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632129 | ||||||
| chr5:632138
|
C | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0005t0002g0014others(1): Show | 4 | HG01258.hp1 HG02451.hp2 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1631C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632138 | ||||||
| chr5:632141
|
C | T | 2 | a0003c0003t0002g0020a0003c0003t0002g0022 | 2 | HG01258.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1628C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632141 | ||||||
| chr5:632150
|
G | A | 3 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0005t0002g0019 | 3 | HG01258.hp1 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1619G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632150 | ||||||
| chr5:632151
|
CCCAGTCC others(32): Show |
C | 2 | a0003c0003t0002g0020a0003c0003t0002g0022 | 2 | HG01258.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1592_513-1554d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632151 | |||||
| chr5:632189
|
G | A | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-1580G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632189 | ||||||
| chr5:632189
|
GACCAGTC others(227): Show |
G | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1579_513-1346d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632189 | ||||||
| chr5:632190
|
A | C | 2 | a0003c0003t0002g0026a0003c0005t0002g0014 | 2 | HG02451.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.513-1579A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632190 | ||||||
| chr5:632216
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1553T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632216 | ||||||
| chr5:632218
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1551T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632218 | ||||||
| chr5:632228
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1541A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632228 | ||||||
| chr5:632246
|
G | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1523G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632246 | ||||||
| chr5:632255
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1514T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632255 | ||||||
| chr5:632266
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1503A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632266 | ||||||
| chr5:632268
|
A | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1501A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632268 | ||||||
| chr5:632285
|
T | G | 5 | a0001c0001t0001g0068a0003c0003t0002g0020a0003c0003t0002g0022others(2): Show | 5 | HG01255.hp2 HG01256.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-1484T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632285 | ||||||
| chr5:632296
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1473C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632296 | ||||||
| chr5:632297
|
T | C | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-1472T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632297 | ||||||
| chr5:632324
|
T | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1445T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632324 | ||||||
| chr5:632333
|
T | C | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-1436T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632333 | ||||||
| chr5:632335
|
T | C | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-1434T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632335 | ||||||
| chr5:632344
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1425G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632344 | ||||||
| chr5:632345
|
A | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1424A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632345 | ||||||
| chr5:632346
|
C | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1423C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632346 | ||||||
| chr5:632363
|
G | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1406G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632363 | ||||||
| chr5:632372
|
T | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1397T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632372 | ||||||
| chr5:632383
|
A | G | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1386A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632383 | ||||||
| chr5:632385
|
A | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1384A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632385 | ||||||
| chr5:632402
|
T | G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-1367T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632402 | ||||||
| chr5:632411
|
T | C | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-1358T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632411 | ||||||
| chr5:632414
|
T | C | 7 | a0001c0001t0001g0031a0001c0001t0001g0066a0003c0003t0002g0020others(4): Show | 7 | HG01243.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.513-1355T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632414 | ||||||
| chr5:632414
|
TG | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-1352delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632414 | |||||
| chr5:632423
|
A | G | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1346A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632423 | ||||||
| chr5:632450
|
T | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-1319T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632450 | ||||||
| chr5:632450
|
T | TGCCGGGA others(32): Show |
1 | a0001c0001t0001g0057 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.513-1241_513-1203d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632450 | |||||
| chr5:632489
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.513-1280C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632489 | ||||||
| chr5:632515
|
G | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-1254G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632515 | ||||||
| chr5:632567
|
T | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-1202T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632567 | ||||||
| chr5:632579
|
A | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-1190A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632579 | ||||||
| chr5:632589
|
G | A | 61 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(58): Show | 62 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.513-1180G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632589 | ||||||
| chr5:632606
|
T | C | 2 | a0003c0003t0002g0020a0003c0005t0002g0014 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1163T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632606 | ||||||
| chr5:632617
|
G | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1152G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632617 | ||||||
| chr5:632619
|
C | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1150C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632619 | ||||||
| chr5:632656
|
A | G | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1113A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632656 | ||||||
| chr5:632658
|
A | C | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-1111A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632658 | ||||||
| chr5:632678
|
GTCCAGTG others(32): Show |
G | 2 | a0001c0001t0001g0053a0003c0003t0002g0020 | 2 | HG02015.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-1073_513-1035d others(41): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632678 | |||||
| chr5:632695
|
GACCCAGT others(70): Show |
G | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.513-1073_513-997de others(78): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632695 | ||||||
| chr5:632696
|
A | G | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1073A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632696 | ||||||
| chr5:632717
|
A | G | 3 | a0001c0001t0001g0068a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG01255.hp2 HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1052A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632717 | ||||||
| chr5:632725
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.513-1044C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632725 | ||||||
| chr5:632734
|
G | A | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-1035G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632734 | ||||||
| chr5:632736
|
C | A | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-1033C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632736 | ||||||
| chr5:632756
|
A | G | 4 | a0001c0001t0001g0066a0003c0003t0002g0020a0003c0005t0002g0014others(1): Show | 4 | HG01243.hp2 HG02451.hp2 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-1013A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632756 | ||||||
| chr5:632762
|
T | C | 3 | a0001c0001t0001g0050a0001c0001t0001g0066a0003c0005t0002g0019 | 3 | HG01243.hp2 HG02258.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-1007T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632762 | ||||||
| chr5:632774
|
A | G | 3 | a0003c0003t0002g0020a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.513-995A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632774 | ||||||
| chr5:632774
|
AC | A | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.513-992delC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632774 | |||||
| chr5:632775
|
C | A | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-994C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632775 | ||||||
| chr5:632801
|
C | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-968C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632801 | ||||||
| chr5:632814
|
C | A | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-955C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632814 | ||||||
| chr5:632840
|
C | T | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(2): Show | 5 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-929C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632840 | ||||||
| chr5:632853
|
A | ACCAGTCC others(32): Show |
1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-878_513-877ins others(39): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632853 | |||||
| chr5:632853
|
A | C | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.513-916A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632853 | ||||||
| chr5:632891
|
G | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-878G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632891 | ||||||
| chr5:632930
|
G | C | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.513-839G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632930 | ||||||
| chr5:632968
|
A | G | 1 | a0001c0001t0001g0047 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.513-801A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 632968 | ||||||
| chr5:632997
|
GCCGGGAT others(72): Show |
G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.513-770_513-692del others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 632997 | |||||
| chr5:633036
|
GCCGGGAT others(33): Show |
G | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-731_513-692del others(40): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 633036 | |||||
| chr5:633078
|
G | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 20 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.513-691G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 633078 | ||||||
| chr5:633207
|
AGTCCTGG others(148): Show |
A | 3 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044 | 3 | HG01175.hp2 HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.513-500_513-346del | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 633207 | |||||
| chr5:633269
|
T | G | 24 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(21): Show | 26 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(23): Show |
intron_variant | MODIFIER | c.513-500T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 633269 | ||||||
| chr5:633386
|
G | GC | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-382dupC | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | 633386 | |||||
| chr5:633388
|
T | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-381T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 633388 | ||||||
| chr5:633399
|
C | T | 1 | a0001c0001t0001g0038 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.513-370C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 633399 | ||||||
| chr5:633651
|
C | G | 1 | a0003c0003t0002g0026 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.513-118C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | 633651 | ||||||
| chr5:634015
|
G | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.691+68G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634015 | ||||||
| chr5:634123
|
T | TA | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.691+179dupA | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | 634123 | |||||
| chr5:634127
|
T | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.691+180T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634127 | ||||||
| chr5:634155
|
C | T | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.691+208C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634155 | ||||||
| chr5:634536
|
C | T | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.691+589C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634536 | ||||||
| chr5:634851
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.692-521A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634851 | ||||||
| chr5:634959
|
A | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.692-413A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634959 | ||||||
| chr5:634980
|
T | C | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.692-392T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 634980 | ||||||
| chr5:635221
|
A | G | 1 | a0003c0003t0002g0020 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.692-151A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 5/11 | chr5 | 635221 | ||||||
| chr5:635594
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.904+10C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 635594 | ||||||
| chr5:635787
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.904+203T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 635787 | ||||||
| chr5:635793
|
T | TAGACTCA others(151): Show |
4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.904+303_904+304ins others(158): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr5 | 635793 | |||||
| chr5:635827
|
C | CTACAGCA others(72): Show |
2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.904+255_904+333dup others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr5 | 635827 | |||||
| chr5:636182
|
A | G | 2 | a0001c0001t0001g0005a0001c0001t0001g0045 | 2 | HG02602.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.904+598A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636182 | ||||||
| chr5:636184
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.904+600C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636184 | ||||||
| chr5:636498
|
A | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.904+914A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636498 | ||||||
| chr5:636601
|
A | C | 1 | a0001c0001t0001g0001 | 2 | HG01069.hp1 HG01070.hp1 |
intron_variant | MODIFIER | c.905-916A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636601 | ||||||
| chr5:636666
|
T | A | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.905-851T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636666 | ||||||
| chr5:636678
|
C | T | 1 | a0001c0001t0001g0089 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.905-839C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636678 | ||||||
| chr5:636725
|
G | A | 1 | a0001c0001t0001g0025 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.905-792G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636725 | ||||||
| chr5:636943
|
A | G | 44 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(41): Show | 46 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.905-574A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636943 | ||||||
| chr5:636950
|
A | G | 1 | a0001c0001t0001g0011 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.905-567A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636950 | ||||||
| chr5:636992
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.905-525C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 636992 | ||||||
| chr5:637162
|
A | G | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.905-355A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637162 | ||||||
| chr5:637175
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.905-342C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637175 | ||||||
| chr5:637176
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.905-341G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637176 | ||||||
| chr5:637209
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.905-308C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637209 | ||||||
| chr5:637328
|
A | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.905-189A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637328 | ||||||
| chr5:637333
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.905-184C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637333 | ||||||
| chr5:637399
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.905-118C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 6/11 | chr5 | 637399 | ||||||
| chr5:637886
|
TGGCGGGG others(54): Show |
T | 2 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | NA18950.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.1206+74_1206+134de others(62): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | 637886 | |||||
| chr5:638104
|
G | A | 2 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | NA18950.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.1206+286G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | chr5 | 638104 | ||||||
| chr5:638165
|
C | T | 1 | a0001c0006t0001g0024 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1206+347C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | chr5 | 638165 | ||||||
| chr5:638876
|
C | T | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1207-213C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | chr5 | 638876 | ||||||
| chr5:638974
|
G | A | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1207-115G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | chr5 | 638974 | ||||||
| chr5:638986
|
C | A | 1 | a0005c0007t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1207-103C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | chr5 | 638986 | ||||||
| chr5:639270
|
G | A | 1 | a0001c0001t0001g0033 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1342+46G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639270 | ||||||
| chr5:639340
|
C | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1342+116C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639340 | ||||||
| chr5:639840
|
T | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1343-568T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639840 | ||||||
| chr5:639890
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1343-518A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639890 | ||||||
| chr5:639906
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1343-502A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639906 | ||||||
| chr5:639909
|
T | A | 2 | a0001c0001t0001g0060a0001c0001t0001g0089 | 2 | HG00741.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.1343-499T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | chr5 | 639909 | ||||||
| chr5:640289
|
CCCTA | C | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1343-115_1343-112d others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr5 | 640289 | |||||
| chr5:640613
|
G | A | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1539+9G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 640613 | ||||||
| chr5:640617
|
T | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1539+13T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 640617 | ||||||
| chr5:640767
|
C | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1539+163C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 640767 | ||||||
| chr5:641113
|
G | A | 1 | a0001c0001t0001g0067 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1539+509G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641113 | ||||||
| chr5:641469
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+865C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641469 | ||||||
| chr5:641579
|
C | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+975C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641579 | ||||||
| chr5:641727
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1539+1123A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641727 | ||||||
| chr5:641760
|
A | G | 3 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013 | 3 | HG02109.hp2 HG02258.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1539+1156A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641760 | ||||||
| chr5:641819
|
G | C | 25 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.1539+1215G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641819 | ||||||
| chr5:641880
|
A | ACACACGT others(69): Show |
37 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(34): Show | 39 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1539+1349_1539+135 others(80): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | 641880 | |||||
| chr5:641880
|
A | ACACACGT others(69): Show |
1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1539+1318_1539+131 others(80): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | 641880 | |||||
| chr5:641899
|
CAGAAGCC others(69): Show |
C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1314_1539+138 others(80): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | 641899 | |||||
| chr5:641984
|
G | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1380G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 641984 | ||||||
| chr5:642013
|
T | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1409T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642013 | ||||||
| chr5:642037
|
C | T | 2 | a0002c0002t0001g0073a0003c0003t0002g0026 | 2 | HG02683.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.1539+1433C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642037 | ||||||
| chr5:642136
|
C | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1532C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642136 | ||||||
| chr5:642144
|
G | A | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1540G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642144 | ||||||
| chr5:642178
|
A | G | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1539+1574A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642178 | ||||||
| chr5:642178
|
ATTTAAAC others(69): Show |
A | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1539+1582_1539+165 others(80): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | 642178 | |||||
| chr5:642304
|
A | G | 25 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.1539+1700A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642304 | ||||||
| chr5:642417
|
A | G | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1539+1813A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642417 | ||||||
| chr5:642609
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1540-1690C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642609 | ||||||
| chr5:642714
|
A | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.1540-1585A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642714 | ||||||
| chr5:642913
|
T | G | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1540-1386T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 642913 | ||||||
| chr5:643279
|
C | T | 1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1540-1020C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643279 | ||||||
| chr5:643329
|
G | A | 1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1540-970G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643329 | ||||||
| chr5:643330
|
C | T | 3 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041 | 3 | HG00673.hp2 NA18948.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1540-969C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643330 | ||||||
| chr5:643478
|
T | C | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.1540-821T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643478 | ||||||
| chr5:643522
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032 | 3 | NA18960.hp1 NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1540-777G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643522 | ||||||
| chr5:643540
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1540-759G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643540 | ||||||
| chr5:643613
|
G | C | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1540-686G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643613 | ||||||
| chr5:643650
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1540-649C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643650 | ||||||
| chr5:643769
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1540-530C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643769 | ||||||
| chr5:643795
|
C | T | 2 | a0001c0001t0001g0047a0001c0001t0001g0055 | 2 | HG01515.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.1540-504C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643795 | ||||||
| chr5:643924
|
C | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1540-375C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643924 | ||||||
| chr5:643938
|
G | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1540-361G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 643938 | ||||||
| chr5:644246
|
C | T | 1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1540-53C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | chr5 | 644246 | ||||||
| chr5:644437
|
G | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1666+12G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 644437 | ||||||
| chr5:644676
|
G | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666+251G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 644676 | ||||||
| chr5:645184
|
A | G | 25 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.1666+759A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645184 | ||||||
| chr5:645369
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1666+944C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645369 | ||||||
| chr5:645372
|
T | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1666+947T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645372 | ||||||
| chr5:645420
|
AACCGTGT others(20): Show |
A | 1 | a0001c0001t0001g0033 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1666+996_1666+1022 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645420 | ||||||
| chr5:645447
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1666+1022C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645447 | ||||||
| chr5:645461
|
GA | G | 17 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(14): Show | 17 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.1666+1051delA | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr5 | 645461 | |||||
| chr5:645910
|
C | T | 2 | a0002c0002t0001g0082a0005c0007t0001g0076 | 2 | HG03688.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1666+1485C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645910 | ||||||
| chr5:645950
|
T | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1666+1525T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 645950 | ||||||
| chr5:646025
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1666+1600G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646025 | ||||||
| chr5:646041
|
A | G | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1666+1616A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646041 | ||||||
| chr5:646071
|
C | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0008 | 2 | HG01257.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1666+1646C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646071 | ||||||
| chr5:646121
|
T | G | 25 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.1667-1684T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646121 | ||||||
| chr5:646138
|
T | A | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1667-1667T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646138 | ||||||
| chr5:646303
|
G | C | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1667-1502G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646303 | ||||||
| chr5:646509
|
T | G | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1667-1296T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646509 | ||||||
| chr5:646783
|
G | A | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1667-1022G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646783 | ||||||
| chr5:646801
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1667-1004C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 646801 | ||||||
| chr5:647487
|
G | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1667-318G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 647487 | ||||||
| chr5:647701
|
T | A | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1667-104T>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | 647701 | ||||||
| chr5:647920
|
C | G | 1 | a0001c0001t0001g0049 | 1 | HG02129.hp2 | splice_region_variant&intron_variant | LOW | c.1778+4C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 647920 | ||||||
| chr5:648037
|
C | T | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+121C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648037 | ||||||
| chr5:648179
|
ATGAGGTG others(175): Show |
A | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+357_1778+538d others(2): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648179 | |||||
| chr5:648328
|
A | ATGGACTG others(174): Show |
17 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(14): Show | 17 | HG00735.hp1 HG01069.hp2 HG01433.hp1 others(14): Show |
intron_variant | MODIFIER | c.1778+457_1778+637d others(183): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648328 | |||||
| chr5:648371
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+455A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648371 | ||||||
| chr5:648448
|
GTGTGAGG others(6): Show |
G | 1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1778+554_1778+566d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648448 | |||||
| chr5:648470
|
GTGACTGT others(6): Show |
G | 4 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0006t0001g0012others(1): Show | 4 | HG01255.hp1 HG02015.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+567_1778+579d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648470 | |||||
| chr5:648483
|
A | ATGACTGT others(174): Show |
1 | a0002c0002t0001g0081 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1778+637_1778+638i others(183): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648483 | |||||
| chr5:648511
|
GGACTGTG others(6): Show |
G | 8 | a0001c0001t0001g0062a0001c0001t0001g0069a0003c0003t0002g0020others(5): Show | 8 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1778+636_1778+648d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648511 | |||||
| chr5:648540
|
C | CTGTGAGG others(82): Show |
1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+637_1778+638i others(91): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648540 | |||||
| chr5:648574
|
G | A | 24 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(21): Show | 26 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(23): Show |
intron_variant | MODIFIER | c.1778+658G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648574 | ||||||
| chr5:648576
|
G | A | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+660G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648576 | ||||||
| chr5:648590
|
TGACTGTG others(7): Show |
T | 8 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02015.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+713_1778+726d others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648590 | |||||
| chr5:648601
|
C | T | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+685C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648601 | ||||||
| chr5:648615
|
C | T | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+699C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648615 | ||||||
| chr5:648618
|
G | GACTGTGA others(5): Show |
1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+702_1778+703i others(14): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648618 | ||||||
| chr5:648629
|
C | T | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+713C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648629 | ||||||
| chr5:648648
|
CTG | C | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+735_1778+736d others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648648 | |||||
| chr5:648669
|
T | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 19 | HG01069.hp1 HG01070.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+753T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648669 | ||||||
| chr5:648671
|
TG | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+757delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648671 | |||||
| chr5:648675
|
C | A | 17 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+759C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648675 | ||||||
| chr5:648688
|
CTG | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(1): Show | 4 | HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+775_1778+776d others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648688 | |||||
| chr5:648688
|
CTGTGAGG others(6): Show |
C | 2 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | HG01192.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.1778+785_1778+797d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648688 | |||||
| chr5:648697
|
G | A | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+781G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648697 | ||||||
| chr5:648699
|
G | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+783G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648699 | ||||||
| chr5:648701
|
A | C | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+785A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648701 | ||||||
| chr5:648723
|
GTGACTGT others(6): Show |
G | 25 | a0001c0001t0001g0046a0002c0002t0001g0070a0002c0002t0001g0071others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.1778+819_1778+831d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648723 | |||||
| chr5:648735
|
C | G | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+819C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648735 | ||||||
| chr5:648736
|
A | G | 20 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(17): Show | 21 | HG00741.hp1 HG01069.hp1 HG01070.hp1 others(18): Show |
intron_variant | MODIFIER | c.1778+820A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648736 | ||||||
| chr5:648737
|
T | TGACTGTG others(7): Show |
1 | a0001c0001t0001g0031 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.1778+850_1778+863d others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648737 | |||||
| chr5:648737
|
TGACTGTG others(7): Show |
T | 2 | a0001c0001t0001g0028a0001c0006t0001g0012 | 2 | HG00741.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1778+850_1778+863d others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648737 | |||||
| chr5:648748
|
T | C | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+832T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648748 | ||||||
| chr5:648762
|
T | C | 1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+846T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648762 | ||||||
| chr5:648765
|
GGACTGTG others(6): Show |
G | 1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1778+873_1778+885d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648765 | |||||
| chr5:648794
|
CTG | C | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+881_1778+882d others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648794 | |||||
| chr5:648816
|
T | C | 1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1778+900T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648816 | ||||||
| chr5:648845
|
G | GACTGTGA others(43): Show |
1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+929_1778+930i others(52): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648845 | ||||||
| chr5:648845
|
GGACTGTG others(6): Show |
G | 25 | a0001c0001t0001g0005a0001c0001t0001g0045a0002c0002t0001g0070others(22): Show | 25 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.1778+966_1778+978d others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648845 | |||||
| chr5:648856
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+940T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648856 | ||||||
| chr5:648858
|
T | TG | 2 | a0001c0001t0001g0050a0002c0002t0001g0086 | 2 | HG01175.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1778+943dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648858 | |||||
| chr5:648869
|
T | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+953T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648869 | ||||||
| chr5:648882
|
T | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 19 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+966T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648882 | ||||||
| chr5:648885
|
GACTGTGA others(19): Show |
G | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 19 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+970_1778+995d others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648885 | ||||||
| chr5:648895
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+979C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648895 | ||||||
| chr5:648909
|
G | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+993G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648909 | ||||||
| chr5:648909
|
GGTGACTG others(6): Show |
G | 1 | a0001c0001t0001g0046 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1778+1025_1778+103 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 648909 | |||||
| chr5:648922
|
T | G | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 19 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+1006T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648922 | ||||||
| chr5:648954
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1038C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648954 | ||||||
| chr5:648955
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1039A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648955 | ||||||
| chr5:648956
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1040C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648956 | ||||||
| chr5:648961
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1045C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648961 | ||||||
| chr5:648962
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1046A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648962 | ||||||
| chr5:648974
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1058A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648974 | ||||||
| chr5:648977
|
G | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1061G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648977 | ||||||
| chr5:648996
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1080C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648996 | ||||||
| chr5:648997
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1081A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 648997 | ||||||
| chr5:649000
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1084G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649000 | ||||||
| chr5:649003
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1087T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649003 | ||||||
| chr5:649008
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1092G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649008 | ||||||
| chr5:649017
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1101T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649017 | ||||||
| chr5:649018
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1102A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649018 | ||||||
| chr5:649020
|
C | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1104C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649020 | ||||||
| chr5:649029
|
G | GGCGTGAC others(136): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1113_1778+111 others(147): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649029 | ||||||
| chr5:649037
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1121T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649037 | ||||||
| chr5:649063
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1147T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649063 | ||||||
| chr5:649066
|
G | GGACTGTG others(6): Show |
6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1178_1778+119 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649066 | |||||
| chr5:649073
|
G | C | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+1157G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649073 | ||||||
| chr5:649122
|
A | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1206A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649122 | ||||||
| chr5:649130
|
C | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1214C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649130 | ||||||
| chr5:649185
|
T | G | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1269T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649185 | ||||||
| chr5:649190
|
G | GTGAGGTG others(4): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1277_1778+128 others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649190 | |||||
| chr5:649223
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1307T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649223 | ||||||
| chr5:649236
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1320T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649236 | ||||||
| chr5:649249
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1333T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649249 | ||||||
| chr5:649252
|
GGACTGTG others(6): Show |
G | 1 | a0001c0001t0001g0061 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1778+1360_1778+137 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649252 | |||||
| chr5:649262
|
G | T | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1346G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649262 | ||||||
| chr5:649276
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1360T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649276 | ||||||
| chr5:649290
|
A | G | 26 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(23): Show | 26 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(23): Show |
intron_variant | MODIFIER | c.1778+1374A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649290 | ||||||
| chr5:649303
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1387C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649303 | ||||||
| chr5:649308
|
C | CTGTGAGG others(22): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1394_1778+139 others(33): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649308 | |||||
| chr5:649314
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1398C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649314 | ||||||
| chr5:649323
|
G | C | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+1407G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649323 | ||||||
| chr5:649327
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1411C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649327 | ||||||
| chr5:649343
|
G | GGACTGTG others(6): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1437_1778+143 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649343 | |||||
| chr5:649357
|
GGACTGTG others(6): Show |
G | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+1469_1778+148 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649357 | |||||
| chr5:649381
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1465T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649381 | ||||||
| chr5:649383
|
T | TGGACTGT others(43): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1468_1778+146 others(54): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649383 | |||||
| chr5:649383
|
TGACTGTG others(20): Show |
T | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1778+1478_1778+150 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649383 | |||||
| chr5:649385
|
A | C | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1469A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649385 | ||||||
| chr5:649394
|
T | C | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1478T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649394 | ||||||
| chr5:649396
|
T | TG | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1481dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649396 | |||||
| chr5:649398
|
C | A | 3 | a0001c0001t0001g0050a0003c0003t0002g0022a0003c0003t0002g0023 | 3 | HG01256.hp2 HG01258.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1778+1482C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649398 | ||||||
| chr5:649407
|
C | T | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+1491C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649407 | ||||||
| chr5:649412
|
A | C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1778+1496A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649412 | ||||||
| chr5:649421
|
C | G | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1505C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649421 | ||||||
| chr5:649423
|
TG | T | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1509delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649423 | |||||
| chr5:649435
|
G | T | 4 | a0001c0001t0001g0013a0001c0001t0001g0050a0003c0003t0002g0022others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1519G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649435 | ||||||
| chr5:649437
|
T | TG | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1522dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649437 | |||||
| chr5:649448
|
T | C | 20 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.1778+1532T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649448 | ||||||
| chr5:649450
|
TG | T | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1536delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649450 | |||||
| chr5:649451
|
GGACTGTG others(46): Show |
G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+1563_1778+161 others(57): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649451 | |||||
| chr5:649477
|
T | TG | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1562dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649477 | |||||
| chr5:649490
|
TG | T | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1576delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649490 | |||||
| chr5:649491
|
G | GACTGTGA others(19): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1575_1778+157 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649491 | ||||||
| chr5:649491
|
G | GGACTGTG others(6): Show |
1 | a0001c0001t0001g0006 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1778+1603_1778+161 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649491 | |||||
| chr5:649491
|
GGACTGTG others(6): Show |
G | 10 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(7): Show | 10 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.1778+1603_1778+161 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649491 | |||||
| chr5:649502
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1586T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649502 | ||||||
| chr5:649517
|
T | TG | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG01243.hp1 HG01433.hp1 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+1602dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649517 | |||||
| chr5:649528
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1612T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649528 | ||||||
| chr5:649530
|
TG | T | 13 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(10): Show | 13 | HG01243.hp1 HG01433.hp1 HG01981.hp2 others(10): Show |
intron_variant | MODIFIER | c.1778+1616delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649530 | |||||
| chr5:649531
|
GGACTGTG others(6): Show |
G | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1639_1778+165 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649531 | |||||
| chr5:649544
|
T | TG | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1629dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649544 | |||||
| chr5:649555
|
T | C | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG01243.hp1 HG01433.hp1 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+1639T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649555 | ||||||
| chr5:649557
|
T | TG | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG01243.hp1 HG01433.hp1 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+1642dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649557 | |||||
| chr5:649568
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1652C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649568 | ||||||
| chr5:649569
|
G | A | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1653G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649569 | ||||||
| chr5:649582
|
C | T | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG01243.hp1 HG01433.hp1 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+1666C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649582 | ||||||
| chr5:649584
|
T | TG | 11 | a0001c0001t0001g0050a0002c0002t0001g0073a0002c0002t0001g0074others(8): Show | 11 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+1669dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649584 | |||||
| chr5:649587
|
C | CTG | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+1672_1778+167 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649587 | |||||
| chr5:649587
|
C | CTGTGAGG others(36): Show |
1 | a0002c0002t0001g0084 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1778+1673_1778+167 others(47): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649587 | |||||
| chr5:649593
|
C | T | 12 | a0001c0001t0001g0050a0002c0002t0001g0073a0002c0002t0001g0074others(9): Show | 12 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.1778+1677C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649593 | ||||||
| chr5:649595
|
T | TG | 8 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 8 | HG01243.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1680dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649595 | |||||
| chr5:649606
|
C | T | 8 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 8 | HG01243.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1690C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649606 | ||||||
| chr5:649608
|
TG | T | 8 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 8 | HG01243.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1694delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649608 | |||||
| chr5:649609
|
G | GGACTGTG others(6): Show |
10 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(7): Show | 10 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.1778+1703_1778+170 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649609 | |||||
| chr5:649609
|
G | GGACTGTG others(217): Show |
1 | a0002c0002t0001g0084 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1778+1703_1778+170 others(228): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649609 | |||||
| chr5:649620
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1704C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649620 | ||||||
| chr5:649623
|
GGACTGTG others(6): Show |
G | 3 | a0001c0001t0001g0046a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG02451.hp2 NA20129.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1778+1735_1778+174 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649623 | |||||
| chr5:649647
|
T | C | 19 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+1731T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649647 | ||||||
| chr5:649647
|
T | G | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+1731T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649647 | ||||||
| chr5:649649
|
T | TG | 18 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+1734dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649649 | |||||
| chr5:649649
|
T | TGGACTGT others(70): Show |
1 | a0002c0002t0001g0071 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1778+1734_1778+173 others(81): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649649 | |||||
| chr5:649651
|
A | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+1735A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649651 | ||||||
| chr5:649652
|
CTGTGAGG others(8): Show |
C | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+1739_1778+175 others(19): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649652 | |||||
| chr5:649652
|
CTGTGAGG others(63): Show |
C | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1778+1739_1778+180 others(74): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649652 | |||||
| chr5:649660
|
T | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+1744T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649660 | ||||||
| chr5:649662
|
T | TG | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+1747dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649662 | |||||
| chr5:649664
|
C | A | 22 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(19): Show | 22 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.1778+1748C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649664 | ||||||
| chr5:649687
|
C | T | 20 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.1778+1771C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649687 | ||||||
| chr5:649689
|
TG | T | 8 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 8 | HG01433.hp1 HG01981.hp2 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1775delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649689 | |||||
| chr5:649690
|
G | GACTGTGA others(41): Show |
1 | a0002c0002t0001g0081 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1778+1774_1778+177 others(52): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649690 | ||||||
| chr5:649690
|
G | GACTGTGA others(68): Show |
4 | a0002c0002t0001g0073a0002c0002t0001g0080a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG02683.hp1 HG02683.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+1774_1778+177 others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649690 | ||||||
| chr5:649690
|
G | GACTGTGA others(95): Show |
3 | a0002c0002t0001g0075a0002c0002t0001g0077a0002c0002t0001g0087 | 3 | HG02738.hp2 NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1778+1774_1778+177 others(106): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649690 | ||||||
| chr5:649690
|
G | GACTGTGA others(260): Show |
3 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0085 | 3 | HG00735.hp1 HG01069.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+1774_1778+177 others(271): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649690 | ||||||
| chr5:649690
|
G | GACTGTGA others(125): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1774_1778+177 others(136): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649690 | ||||||
| chr5:649701
|
C | G | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1785C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649701 | ||||||
| chr5:649701
|
C | T | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+1785C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649701 | ||||||
| chr5:649702
|
G | A | 6 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1786G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649702 | ||||||
| chr5:649703
|
TG | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1789delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649703 | |||||
| chr5:649703
|
TGGACTGT others(35): Show |
T | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+1789_1778+183 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649703 | |||||
| chr5:649707
|
CTG | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+1794_1778+179 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649707 | |||||
| chr5:649715
|
G | C | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1799G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649715 | ||||||
| chr5:649715
|
G | T | 20 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.1778+1799G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649715 | ||||||
| chr5:649717
|
T | TG | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1802dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649717 | |||||
| chr5:649721
|
C | T | 24 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(21): Show | 24 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.1778+1805C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649721 | ||||||
| chr5:649722
|
G | GAGGTGTG others(2): Show |
6 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1806_1778+180 others(13): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649722 | ||||||
| chr5:649728
|
C | T | 9 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0074others(6): Show | 9 | HG00735.hp1 HG01069.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+1812C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649728 | ||||||
| chr5:649730
|
TG | T | 6 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1816delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649730 | |||||
| chr5:649731
|
G | GGACTGTG others(6): Show |
9 | a0002c0002t0001g0071a0002c0002t0001g0073a0002c0002t0001g0075others(6): Show | 9 | HG01175.hp1 HG01243.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+1825_1778+182 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649731 | |||||
| chr5:649742
|
C | T | 9 | a0001c0001t0001g0010a0002c0002t0001g0074a0002c0002t0001g0078others(6): Show | 9 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+1826C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649742 | ||||||
| chr5:649744
|
TG | T | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+1830delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649744 | |||||
| chr5:649745
|
G | GGACTGTG others(6): Show |
18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 20 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.1778+1840_1778+185 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649745 | |||||
| chr5:649769
|
C | T | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1778+1853C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649769 | ||||||
| chr5:649777
|
GTGAGGTG others(4): Show |
G | 5 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0026others(2): Show | 5 | HG01258.hp1 HG02451.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1875_1778+188 others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649777 | |||||
| chr5:649783
|
T | C | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1778+1867T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649783 | ||||||
| chr5:649783
|
T | G | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+1867T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649783 | ||||||
| chr5:649788
|
C | CTG | 13 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0072others(10): Show | 13 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1778+1873_1778+187 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649788 | |||||
| chr5:649788
|
C | CTGTGAGG others(93): Show |
1 | a0002c0002t0001g0086 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1778+1874_1778+187 others(104): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649788 | |||||
| chr5:649788
|
C | CTGTGAGG others(66): Show |
2 | a0002c0002t0001g0071a0002c0002t0001g0077 | 2 | HG02738.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+1874_1778+187 others(77): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649788 | |||||
| chr5:649788
|
C | CTGTGAGG others(134): Show |
5 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1874_1778+187 others(145): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649788 | |||||
| chr5:649794
|
T | C | 6 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1878T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649794 | ||||||
| chr5:649794
|
T | G | 2 | a0002c0002t0001g0075a0002c0002t0001g0087 | 2 | NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1778+1878T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649794 | ||||||
| chr5:649796
|
T | TG | 6 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1881dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649796 | |||||
| chr5:649809
|
T | TG | 7 | a0002c0002t0001g0071a0002c0002t0001g0074a0002c0002t0001g0077others(4): Show | 7 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+1894dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649809 | |||||
| chr5:649820
|
T | C | 8 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0072others(5): Show | 8 | HG01243.hp1 HG01433.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1904T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649820 | ||||||
| chr5:649823
|
G | GACTGTGA others(200): Show |
1 | a0002c0002t0001g0078 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1778+1907_1778+190 others(211): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649823 | ||||||
| chr5:649823
|
G | GACTGTGA others(213): Show |
3 | a0002c0002t0001g0074a0002c0002t0001g0084a0002c0002t0001g0085 | 3 | HG01069.hp2 HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+1907_1778+190 others(224): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649823 | ||||||
| chr5:649823
|
GGACTGTG others(6): Show |
G | 2 | a0001c0001t0001g0060a0001c0001t0001g0089 | 2 | HG00741.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.1778+1939_1778+195 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649823 | |||||
| chr5:649834
|
C | T | 16 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(13): Show | 16 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.1778+1918C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649834 | ||||||
| chr5:649847
|
C | T | 8 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(5): Show | 8 | HG01069.hp2 HG01981.hp2 HG02683.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+1931C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649847 | ||||||
| chr5:649849
|
T | TG | 11 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(8): Show | 11 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+1934dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649849 | |||||
| chr5:649854
|
GTGAGGCG others(4): Show |
G | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1778+1944_1778+195 others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649854 | |||||
| chr5:649860
|
C | G | 3 | a0002c0002t0001g0071a0002c0002t0001g0077a0002c0002t0001g0086 | 3 | HG01175.hp1 HG02738.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+1944C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649860 | ||||||
| chr5:649860
|
C | T | 17 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0072others(14): Show | 17 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.1778+1944C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649860 | ||||||
| chr5:649865
|
C | CCACGAGG others(97): Show |
5 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1949_1778+195 others(108): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649865 | ||||||
| chr5:649865
|
C | CTG | 17 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(14): Show | 17 | HG01069.hp2 HG01175.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.1778+1950_1778+195 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649865 | |||||
| chr5:649865
|
C | CTGTGAGG others(8): Show |
1 | a0002c0002t0001g0078 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1778+1951_1778+195 others(19): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649865 | |||||
| chr5:649871
|
T | C | 3 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0083 | 3 | HG01433.hp1 HG02258.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1778+1955T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649871 | ||||||
| chr5:649873
|
TG | T | 3 | a0002c0002t0001g0071a0002c0002t0001g0077a0002c0002t0001g0086 | 3 | HG01175.hp1 HG02738.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+1959delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649873 | |||||
| chr5:649874
|
G | GACTGT | 3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+1958_1778+195 others(9): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649874 | ||||||
| chr5:649874
|
G | GACTGTGG others(104): Show |
1 | a0002c0002t0001g0082 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1778+1958_1778+195 others(115): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649874 | ||||||
| chr5:649876
|
A | G | 3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+1960A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649876 | ||||||
| chr5:649877
|
C | G | 3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+1961C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649877 | ||||||
| chr5:649885
|
T | C | 1 | a0002c0002t0001g0082 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1778+1969T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649885 | ||||||
| chr5:649886
|
G | GT | 5 | a0002c0002t0001g0071a0002c0002t0001g0077a0002c0002t0001g0081others(2): Show | 5 | HG01175.hp1 HG01243.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.1778+1970_1778+197 others(5): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649886 | ||||||
| chr5:649886
|
G | GTGACTGA others(89): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+1970_1778+197 others(100): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649886 | ||||||
| chr5:649886
|
G | GTGACTGT others(34): Show |
3 | a0002c0002t0001g0074a0002c0002t0001g0084a0002c0002t0001g0085 | 3 | HG01069.hp2 HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+1970_1778+197 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649886 | ||||||
| chr5:649887
|
G | T | 11 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0073others(8): Show | 11 | HG00735.hp1 HG01433.hp1 HG02602.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+1971G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649887 | ||||||
| chr5:649898
|
T | C | 3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+1982T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649898 | ||||||
| chr5:649900
|
T | TG | 4 | a0002c0002t0001g0072a0002c0002t0001g0078a0002c0002t0001g0079others(1): Show | 4 | HG00735.hp1 HG02602.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+1985dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649900 | |||||
| chr5:649903
|
C | CTG | 14 | a0001c0001t0001g0050a0002c0002t0001g0071a0002c0002t0001g0073others(11): Show | 14 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.1778+1988_1778+198 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649903 | |||||
| chr5:649903
|
C | CTGTGAGG others(22): Show |
1 | a0002c0002t0001g0081 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1778+1989_1778+199 others(33): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649903 | |||||
| chr5:649903
|
C | CTGTGGGT others(53): Show |
2 | a0002c0002t0001g0070a0002c0002t0001g0083 | 2 | HG01433.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1778+1989_1778+199 others(64): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649903 | |||||
| chr5:649911
|
T | TG | 5 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1996dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649911 | |||||
| chr5:649913
|
A | G | 5 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1997A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649913 | ||||||
| chr5:649922
|
T | C | 28 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(25): Show | 30 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(27): Show |
intron_variant | MODIFIER | c.1778+2006T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649922 | ||||||
| chr5:649924
|
TG | T | 5 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+2010delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649924 | |||||
| chr5:649925
|
G | GACCACGA others(68): Show |
2 | a0002c0002t0001g0071a0002c0002t0001g0086 | 2 | HG01175.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+2009_1778+201 others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649925 | ||||||
| chr5:649925
|
G | GACCACGA others(161): Show |
1 | a0002c0002t0001g0077 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1778+2009_1778+201 others(172): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649925 | ||||||
| chr5:649928
|
C | A | 6 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0077others(3): Show | 6 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+2012C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649928 | ||||||
| chr5:649928
|
C | G | 2 | a0002c0002t0001g0071a0002c0002t0001g0086 | 2 | HG01175.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+2012C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649928 | ||||||
| chr5:649936
|
C | T | 14 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(11): Show | 14 | HG00735.hp1 HG01175.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1778+2020C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649936 | ||||||
| chr5:649938
|
T | TG | 2 | a0002c0002t0001g0070a0002c0002t0001g0083 | 2 | HG01433.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1778+2023dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649938 | |||||
| chr5:649949
|
C | CGTGGACT others(64): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+2036_1778+203 others(75): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649949 | |||||
| chr5:649949
|
C | T | 11 | a0001c0001t0001g0066a0002c0002t0001g0070a0002c0002t0001g0071others(8): Show | 11 | HG00735.hp1 HG01175.hp1 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+2033C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649949 | ||||||
| chr5:649950
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1778+2034G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649950 | ||||||
| chr5:649951
|
T | TG | 3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+2036dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649951 | |||||
| chr5:649951
|
T | TGACTGTG others(20): Show |
11 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 12 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.1778+2049_1778+205 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649951 | |||||
| chr5:649962
|
C | T | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0078others(5): Show | 8 | HG00735.hp1 HG01175.hp1 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+2046C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649962 | ||||||
| chr5:649962
|
CGTGGACT others(7): Show |
C | 2 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+2050_1778+206 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649962 | |||||
| chr5:649963
|
G | A | 1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1778+2047G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649963 | ||||||
| chr5:649964
|
TG | T | 10 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0077others(7): Show | 10 | HG02451.hp2 HG02683.hp1 HG02683.hp2 others(7): Show |
intron_variant | MODIFIER | c.1778+2050delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649964 | |||||
| chr5:649965
|
G | GACCACGA others(81): Show |
2 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | HG01243.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1778+2049_1778+205 others(92): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(126): Show |
1 | a0002c0002t0001g0074 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1778+2049_1778+205 others(137): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(19): Show |
1 | a0002c0002t0001g0085 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1778+2049_1778+205 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(113): Show |
1 | a0002c0002t0001g0084 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1778+2049_1778+205 others(124): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(99): Show |
2 | a0001c0001t0001g0003a0001c0001t0001g0018 | 2 | HG02109.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1778+2049_1778+205 others(110): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(112): Show |
4 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0006t0001g0012others(1): Show | 4 | HG01255.hp1 HG02015.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+2049_1778+205 others(123): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649965
|
G | GACTGTGA others(175): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+2049_1778+205 others(186): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649965 | ||||||
| chr5:649976
|
T | C | 11 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(8): Show | 11 | HG00735.hp1 HG01255.hp1 HG02015.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+2060T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649976 | ||||||
| chr5:649976
|
T | G | 2 | a0002c0002t0001g0070a0002c0002t0001g0083 | 2 | HG01433.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1778+2060T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649976 | ||||||
| chr5:649978
|
T | TG | 4 | a0003c0003t0002g0020a0003c0003t0002g0026a0003c0005t0002g0014others(1): Show | 4 | HG02451.hp2 NA19010.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+2063dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649978 | |||||
| chr5:649980
|
A | C | 1 | a0002c0002t0001g0085 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1778+2064A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649980 | ||||||
| chr5:649981
|
C | T | 4 | a0003c0003t0002g0020a0003c0005t0002g0014a0003c0005t0002g0019others(1): Show | 5 | HG02451.hp2 NA18971.hp1 NA19065.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+2065C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649981 | ||||||
| chr5:649989
|
C | T | 23 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(20): Show | 24 | HG01069.hp1 HG01070.hp1 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.1778+2073C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649989 | ||||||
| chr5:649991
|
TG | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0018a0002c0002t0001g0070others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+2077delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649991 | |||||
| chr5:649992
|
G | GACTGTGA others(86): Show |
1 | a0002c0002t0001g0078 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1778+2076_1778+207 others(97): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649992 | ||||||
| chr5:649992
|
G | GACTGTGA others(71): Show |
9 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(6): Show | 10 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.1778+2076_1778+207 others(82): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649992 | ||||||
| chr5:649992
|
G | GACTGTGA others(111): Show |
1 | a0001c0001t0001g0006 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1778+2076_1778+207 others(122): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649992 | ||||||
| chr5:649992
|
G | GACTGTGA others(98): Show |
1 | a0001c0001t0001g0008 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1778+2076_1778+207 others(109): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649992 | ||||||
| chr5:649992
|
G | GACTGTGA others(46): Show |
4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2076_1778+207 others(57): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649992 | ||||||
| chr5:649992
|
G | GGACTGTG others(19): Show |
4 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0006t0001g0012others(1): Show | 4 | HG01255.hp1 HG02015.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+2090_1778+209 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649992 | |||||
| chr5:649992
|
G | GGACTGTG others(19): Show |
2 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | HG01243.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1778+2086_1778+208 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649992 | |||||
| chr5:649992
|
G | GGACTGTG others(214): Show |
3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1778+2086_1778+208 others(225): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 649992 | |||||
| chr5:649995
|
C | T | 3 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.1778+2079C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 649995 | ||||||
| chr5:650003
|
C | T | 19 | a0001c0001t0001g0050a0002c0002t0001g0070a0002c0002t0001g0071others(16): Show | 19 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+2087C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650003 | ||||||
| chr5:650005
|
TG | T | 4 | a0001c0001t0001g0050a0003c0003t0002g0020a0003c0005t0002g0014others(1): Show | 4 | HG02258.hp1 HG02451.hp2 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+2091delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650005 | |||||
| chr5:650008
|
A | G | 7 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(4): Show | 7 | HG01175.hp1 HG01243.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2092A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650008 | ||||||
| chr5:650017
|
T | C | 11 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(8): Show | 12 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.1778+2101T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650017 | ||||||
| chr5:650017
|
T | G | 1 | a0002c0002t0001g0085 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1778+2101T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650017 | ||||||
| chr5:650022
|
C | A | 7 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(4): Show | 7 | HG01175.hp1 HG01243.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2106C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650022 | ||||||
| chr5:650030
|
T | C | 3 | a0001c0001t0001g0050a0002c0002t0001g0071a0002c0002t0001g0086 | 3 | HG01175.hp1 HG02258.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1778+2114T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650030 | ||||||
| chr5:650032
|
T | TG | 3 | a0001c0001t0001g0050a0002c0002t0001g0075a0002c0002t0001g0087 | 3 | HG02258.hp1 NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1778+2117dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650032 | |||||
| chr5:650035
|
CTG | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+2122_1778+212 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650035 | |||||
| chr5:650043
|
C | T | 10 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(7): Show | 10 | HG01433.hp1 HG01981.hp2 HG02683.hp1 others(7): Show |
intron_variant | MODIFIER | c.1778+2127C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650043 | ||||||
| chr5:650045
|
TG | T | 9 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(6): Show | 9 | HG01175.hp1 HG01243.hp1 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2131delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650045 | |||||
| chr5:650046
|
G | GACCACGA others(187): Show |
1 | a0002c0002t0001g0083 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1778+2130_1778+213 others(198): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650046 | ||||||
| chr5:650046
|
G | GACCACGA others(187): Show |
1 | a0002c0002t0001g0070 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1778+2130_1778+213 others(198): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650046 | ||||||
| chr5:650057
|
T | C | 22 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(19): Show | 22 | HG00735.hp1 HG01175.hp1 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.1778+2141T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650057 | ||||||
| chr5:650059
|
T | TG | 3 | a0002c0002t0001g0075a0002c0002t0001g0078a0002c0002t0001g0087 | 3 | HG00735.hp1 NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1778+2144dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650059 | |||||
| chr5:650059
|
T | TGGACTGT others(34): Show |
6 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(3): Show | 6 | HG01255.hp1 HG01257.hp2 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.1778+2144_1778+214 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650059 | |||||
| chr5:650070
|
T | C | 12 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0077others(9): Show | 12 | HG01256.hp2 HG01258.hp1 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.1778+2154T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650070 | ||||||
| chr5:650083
|
C | CGTGACTG others(87): Show |
1 | a0001c0001t0001g0018 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1778+2179_1778+218 others(98): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650083 | |||||
| chr5:650083
|
C | CGTGGACT others(74): Show |
10 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(7): Show | 11 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+2170_1778+217 others(85): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650083 | |||||
| chr5:650083
|
C | CGTGGACT others(7): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+2170_1778+217 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650083 | |||||
| chr5:650083
|
C | CGTGGACT others(178): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+2170_1778+217 others(189): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650083 | |||||
| chr5:650083
|
C | T | 18 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(15): Show | 18 | HG00735.hp1 HG01175.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+2167C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650083 | ||||||
| chr5:650083
|
CGTGACTG others(6): Show |
C | 29 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0031others(26): Show | 29 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1778+2171_1778+218 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650083 | |||||
| chr5:650085
|
T | TG | 16 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(13): Show | 16 | HG00741.hp1 HG00741.hp2 HG01069.hp2 others(13): Show |
intron_variant | MODIFIER | c.1778+2170dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650085 | |||||
| chr5:650096
|
T | C | 30 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(27): Show | 32 | HG01069.hp1 HG01069.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.1778+2180T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650096 | ||||||
| chr5:650098
|
TG | T | 15 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(12): Show | 15 | HG00741.hp1 HG00741.hp2 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.1778+2184delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650098 | |||||
| chr5:650104
|
G | GTGAGGCG others(466): Show |
1 | a0001c0001t0001g0030 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1778+2193_1778+219 others(477): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650104
|
G | GTGAGGCG others(466): Show |
12 | a0001c0001t0001g0005a0001c0001t0001g0045a0001c0001t0001g0046others(9): Show | 12 | HG00741.hp2 HG01192.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.1778+2193_1778+219 others(477): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650104
|
G | GTGAGGCG others(1216): Show |
1 | a0001c0001t0001g0038 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1778+2193_1778+219 others(1227): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650104
|
G | GTGAGGCG others(466): Show |
1 | a0001c0001t0001g0028 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1778+2193_1778+219 others(477): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650104
|
G | GTGAGGTG others(17): Show |
2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2195_1778+219 others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650104
|
G | GTGAGGTG others(452): Show |
1 | a0001c0001t0001g0055 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1778+2457_1778+245 others(463): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650104 | |||||
| chr5:650110
|
T | C | 13 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0077others(10): Show | 13 | HG00735.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1778+2194T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650110 | ||||||
| chr5:650112
|
T | TG | 5 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026others(2): Show | 5 | HG01256.hp2 HG02451.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+2197dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650112 | |||||
| chr5:650113
|
GACTGTGA others(68): Show |
G | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2198_1778+227 others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650113 | ||||||
| chr5:650123
|
C | T | 16 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(13): Show | 16 | HG01069.hp2 HG01175.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1778+2207C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650123 | ||||||
| chr5:650125
|
TG | T | 10 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0077others(7): Show | 10 | HG00735.hp1 HG01069.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1778+2211delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650125 | |||||
| chr5:650128
|
A | C | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2212A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650128 | ||||||
| chr5:650137
|
T | C | 9 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(6): Show | 9 | HG00735.hp1 HG01981.hp2 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2221T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650137 | ||||||
| chr5:650139
|
T | TG | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2224dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650139 | |||||
| chr5:650139
|
T | TGACTGTG others(122): Show |
1 | a0002c0002t0001g0078 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1778+2233_1778+223 others(133): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650139 | |||||
| chr5:650139
|
T | TGGACTGT others(162): Show |
1 | a0002c0002t0001g0085 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1778+2224_1778+222 others(173): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650139 | |||||
| chr5:650139
|
TGACTGTG others(97): Show |
T | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+2234_1778+233 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650139 | |||||
| chr5:650150
|
C | T | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2234C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650150 | ||||||
| chr5:650152
|
TG | T | 2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2238delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650152 | |||||
| chr5:650164
|
T | C | 4 | a0002c0002t0001g0074a0002c0002t0001g0075a0002c0002t0001g0084others(1): Show | 4 | HG01981.hp2 NA18942.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2248T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650164 | ||||||
| chr5:650164
|
T | G | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2248T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650164 | ||||||
| chr5:650166
|
TGACTGAG others(97): Show |
T | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1778+2256_1778+235 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650166 | |||||
| chr5:650169
|
C | CTG | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+2254_1778+225 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650169 | |||||
| chr5:650175
|
T | C | 2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2259T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650175 | ||||||
| chr5:650179
|
A | C | 2 | a0002c0002t0001g0075a0002c0002t0001g0087 | 2 | NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1778+2263A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650179 | ||||||
| chr5:650180
|
C | CTG | 16 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0073others(13): Show | 16 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.1778+2265_1778+226 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650180 | |||||
| chr5:650180
|
C | CTGTGAGG others(22): Show |
1 | a0002c0002t0001g0070 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1778+2266_1778+226 others(33): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650180 | |||||
| chr5:650186
|
T | C | 9 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(6): Show | 9 | HG01981.hp2 HG02683.hp1 HG02683.hp2 others(6): Show |
intron_variant | MODIFIER | c.1778+2270T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650186 | ||||||
| chr5:650188
|
T | TG | 14 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0073others(11): Show | 14 | HG01175.hp1 HG01433.hp1 HG01981.hp2 others(11): Show |
intron_variant | MODIFIER | c.1778+2273dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650188 | |||||
| chr5:650188
|
T | TGGACTGT others(87): Show |
2 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | HG01243.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1778+2273_1778+227 others(98): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650188 | |||||
| chr5:650199
|
C | T | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2283C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650199 | ||||||
| chr5:650201
|
TG | T | 5 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0077others(2): Show | 5 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.1778+2287delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650201 | |||||
| chr5:650202
|
G | GACTGTGA others(5): Show |
6 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1778+2286_1778+228 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650202 | ||||||
| chr5:650202
|
G | GGACTGTG others(6): Show |
4 | a0002c0002t0001g0075a0002c0002t0001g0081a0002c0002t0001g0082others(1): Show | 4 | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2296_1778+229 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650202 | |||||
| chr5:650213
|
T | C | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2297T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650213 | ||||||
| chr5:650226
|
C | T | 3 | a0002c0002t0001g0074a0002c0002t0001g0084a0003c0003t0002g0022 | 3 | HG01258.hp1 HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2310C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650226 | ||||||
| chr5:650227
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1778+2311G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650227 | ||||||
| chr5:650228
|
TG | T | 3 | a0002c0002t0001g0078a0002c0002t0001g0085a0003c0003t0002g0022 | 3 | HG00735.hp1 HG01069.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1778+2314delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650228 | |||||
| chr5:650229
|
G | GACTTGAG others(31): Show |
2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2313_1778+231 others(42): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650229 | ||||||
| chr5:650240
|
C | T | 4 | a0002c0002t0001g0075a0002c0002t0001g0081a0002c0002t0001g0082others(1): Show | 4 | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2324C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650240 | ||||||
| chr5:650242
|
TG | T | 13 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(10): Show | 13 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.1778+2328delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650242 | |||||
| chr5:650243
|
G | GACTGTGA others(19): Show |
2 | a0002c0002t0001g0078a0002c0002t0001g0085 | 2 | HG00735.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.1778+2327_1778+232 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650243 | ||||||
| chr5:650254
|
T | C | 2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2338T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650254 | ||||||
| chr5:650256
|
T | TGACTGTG others(188): Show |
4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2350_1778+235 others(199): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650256 | |||||
| chr5:650256
|
TGACTGTG others(7): Show |
T | 1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1778+2351_1778+236 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650256 | |||||
| chr5:650258
|
A | C | 7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2342A>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650258 | ||||||
| chr5:650267
|
C | T | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2351C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650267 | ||||||
| chr5:650281
|
T | C | 13 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(10): Show | 13 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.1778+2365T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650281 | ||||||
| chr5:650283
|
T | TG | 13 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(10): Show | 13 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.1778+2368dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650283 | |||||
| chr5:650293
|
G | T | 1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1778+2377G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650293 | ||||||
| chr5:650294
|
T | C | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2378T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650294 | ||||||
| chr5:650294
|
T | G | 9 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(6): Show | 9 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2378T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650294 | ||||||
| chr5:650297
|
GACTGTGA others(5): Show |
G | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2382_1778+239 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650297 | ||||||
| chr5:650307
|
T | C | 6 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(3): Show | 6 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+2391T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650307 | ||||||
| chr5:650309
|
T | TG | 6 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(3): Show | 6 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+2394dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650309 | |||||
| chr5:650320
|
C | T | 4 | a0002c0002t0001g0075a0002c0002t0001g0081a0002c0002t0001g0082others(1): Show | 4 | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2404C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650320 | ||||||
| chr5:650323
|
GGACTGTG others(417): Show |
G | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1778+2418_1779-223 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650323 | |||||
| chr5:650334
|
T | C | 9 | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0077others(6): Show | 9 | HG01243.hp1 HG01256.hp2 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.1778+2418T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650334 | ||||||
| chr5:650334
|
T | G | 2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2418T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650334 | ||||||
| chr5:650336
|
TGACTGTG others(7): Show |
T | 3 | a0003c0003t0002g0022a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG01258.hp1 HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1778+2431_1778+244 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650336 | |||||
| chr5:650347
|
C | T | 8 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 8 | HG01175.hp1 HG01256.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+2431C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650347 | ||||||
| chr5:650349
|
TG | T | 18 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.1778+2435delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650349 | |||||
| chr5:650360
|
G | A | 4 | a0003c0003t0002g0022a0003c0003t0002g0023a0003c0005t0002g0014others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2444G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650360 | ||||||
| chr5:650361
|
T | C | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+2445T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650361 | ||||||
| chr5:650363
|
T | TG | 7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2448dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650363 | |||||
| chr5:650363
|
T | TGACTGTG others(122): Show |
4 | a0002c0002t0001g0075a0002c0002t0001g0081a0002c0002t0001g0082others(1): Show | 4 | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2457_1778+245 others(133): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650363 | |||||
| chr5:650363
|
T | TGGACTGT others(45): Show |
2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2448_1778+244 others(56): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650363 | |||||
| chr5:650366
|
C | CTGAGGCG others(5): Show |
2 | a0002c0002t0001g0078a0002c0002t0001g0085 | 2 | HG00735.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.1778+2452_1778+245 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650366 | |||||
| chr5:650366
|
C | T | 2 | a0002c0002t0001g0074a0002c0002t0001g0084 | 2 | HG01981.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1778+2450C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650366 | ||||||
| chr5:650393
|
CTG | C | 16 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(13): Show | 16 | HG00741.hp1 HG00741.hp2 HG01192.hp2 others(13): Show |
intron_variant | MODIFIER | c.1778+2480_1778+248 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650393 | |||||
| chr5:650395
|
G | GTGAGGTG others(477): Show |
26 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0031others(23): Show | 26 | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.1779-2500_1779-249 others(488): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650395 | |||||
| chr5:650406
|
CTGTGGG | C | 8 | a0002c0002t0001g0074a0002c0002t0001g0075a0002c0002t0001g0078others(5): Show | 8 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.1778+2495_1778+250 others(10): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650406 | |||||
| chr5:650406
|
CTGTGGGT others(271): Show |
C | 2 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1778+2493_1779-230 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650406 | |||||
| chr5:650406
|
CTGTGGGT others(326): Show |
C | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1778+2493_1779-224 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650406 | |||||
| chr5:650411
|
G | A | 11 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(8): Show | 11 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+2495G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650411 | ||||||
| chr5:650412
|
G | GGCGTGGA others(28): Show |
4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2496_1778+249 others(39): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650412 | ||||||
| chr5:650412
|
G | GGTGTGGA others(1): Show |
7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2496_1778+249 others(12): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650412 | ||||||
| chr5:650420
|
T | C | 11 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(8): Show | 11 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(8): Show |
intron_variant | MODIFIER | c.1778+2504T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650420 | ||||||
| chr5:650422
|
T | TG | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+2507dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650422 | |||||
| chr5:650435
|
TG | T | 7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+2521delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650435 | |||||
| chr5:650436
|
GGACTGAG others(4): Show |
G | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2526_1778+253 others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650436 | |||||
| chr5:650439
|
C | CTG | 19 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1778+2524_1778+252 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650439 | |||||
| chr5:650445
|
T | C | 15 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(12): Show | 15 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.1778+2529T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650445 | ||||||
| chr5:650458
|
C | T | 7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1779-2530C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650458 | ||||||
| chr5:650460
|
TG | T | 13 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(10): Show | 13 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1779-2526delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650460 | |||||
| chr5:650472
|
T | C | 12 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(9): Show | 12 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1779-2516T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650472 | ||||||
| chr5:650474
|
T | G | 7 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1779-2514T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650474 | ||||||
| chr5:650474
|
T | TG | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2513dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650474 | |||||
| chr5:650477
|
CTG | C | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2508_1779-250 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650477 | |||||
| chr5:650485
|
T | C | 13 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(10): Show | 13 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1779-2503T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650485 | ||||||
| chr5:650485
|
T | TGTGACTG others(314): Show |
1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1779-2500_1779-249 others(325): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650485 | |||||
| chr5:650488
|
G | GACTGAGG others(108): Show |
6 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-2500_1779-249 others(119): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650488 | ||||||
| chr5:650488
|
G | GACTGAGG others(213): Show |
1 | a0002c0002t0001g0070 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1779-2500_1779-249 others(224): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650488 | ||||||
| chr5:650488
|
G | GACTGTGA others(2372): Show |
1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1779-2500_1779-249 others(2383): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650488 | ||||||
| chr5:650488
|
G | GGACTGTG others(361): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2464_1779-246 others(372): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650488 | |||||
| chr5:650491
|
C | T | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2497C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650491 | ||||||
| chr5:650499
|
T | C | 5 | a0001c0001t0001g0066a0002c0002t0001g0073a0002c0002t0001g0077others(2): Show | 5 | HG01243.hp2 HG02683.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-2489T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650499 | ||||||
| chr5:650499
|
T | G | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2489T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650499 | ||||||
| chr5:650501
|
T | TG | 5 | a0001c0001t0001g0066a0002c0002t0001g0073a0002c0002t0001g0077others(2): Show | 5 | HG01243.hp2 HG02683.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-2486dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650501 | |||||
| chr5:650501
|
T | TGACTGTG others(390): Show |
1 | a0001c0001t0001g0009 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1779-2464_1779-246 others(401): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650501 | |||||
| chr5:650501
|
T | TGACTGTG others(428): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1779-2464_1779-246 others(439): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650501 | |||||
| chr5:650512
|
T | C | 6 | a0001c0001t0001g0063a0002c0002t0001g0070a0002c0002t0001g0074others(3): Show | 6 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-2476T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650512 | ||||||
| chr5:650514
|
T | TG | 5 | a0002c0002t0001g0070a0002c0002t0001g0074a0002c0002t0001g0078others(2): Show | 5 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-2473dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650514 | |||||
| chr5:650514
|
T | TGACTGTG others(7): Show |
2 | a0002c0002t0001g0075a0002c0002t0001g0087 | 2 | NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1779-2463_1779-245 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650514 | |||||
| chr5:650525
|
C | T | 20 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(17): Show | 21 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.1779-2463C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650525 | ||||||
| chr5:650527
|
TG | T | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2459delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650527 | |||||
| chr5:650536
|
A | T | 1 | a0001c0001t0001g0009 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1779-2452A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650536 | ||||||
| chr5:650539
|
T | C | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(5): Show | 8 | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2449T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650539 | ||||||
| chr5:650539
|
T | G | 3 | a0002c0002t0001g0070a0002c0002t0001g0075a0002c0002t0001g0087 | 3 | NA18982.hp1 NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1779-2449T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650539 | ||||||
| chr5:650541
|
T | TGGACTGT others(86): Show |
2 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | HG01243.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1779-2446_1779-244 others(97): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650541 | |||||
| chr5:650544
|
C | T | 2 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | HG01243.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1779-2444C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650544 | ||||||
| chr5:650552
|
C | T | 20 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(17): Show | 21 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(18): Show |
intron_variant | MODIFIER | c.1779-2436C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650552 | ||||||
| chr5:650554
|
TG | T | 10 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0074others(7): Show | 10 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.1779-2432delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650554 | |||||
| chr5:650560
|
GTGAGGTG others(50): Show |
G | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1779-2409_1779-235 others(61): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650560 | |||||
| chr5:650566
|
T | C | 17 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(14): Show | 17 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.1779-2422T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650566 | ||||||
| chr5:650568
|
T | TG | 7 | a0002c0002t0001g0070a0002c0002t0001g0074a0002c0002t0001g0075others(4): Show | 7 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.1779-2419dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650568 | |||||
| chr5:650569
|
G | C | 1 | a0001c0001t0001g0030 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1779-2419G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650569 | ||||||
| chr5:650579
|
T | C | 10 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0073others(7): Show | 10 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(7): Show |
intron_variant | MODIFIER | c.1779-2409T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650579 | ||||||
| chr5:650581
|
T | TG | 6 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-2406dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650581 | |||||
| chr5:650584
|
CTG | C | 3 | a0001c0001t0001g0009a0001c0001t0001g0050a0004c0004t0003g0002 | 4 | HG02258.hp1 HG03688.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.1779-2401_1779-240 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650584 | |||||
| chr5:650584
|
CTGTGGG | C | 6 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0081others(3): Show | 6 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-2399_1779-239 others(10): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650584 | |||||
| chr5:650586
|
G | GTGAGGCG others(362): Show |
1 | a0001c0001t0001g0017 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1779-2400_1779-239 others(373): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650586 | |||||
| chr5:650586
|
G | GTGAGGCG others(375): Show |
1 | a0001c0001t0001g0004 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1779-2400_1779-239 others(386): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650586 | |||||
| chr5:650586
|
G | GTGAGGCG others(375): Show |
7 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(4): Show | 8 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2400_1779-239 others(386): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650586 | |||||
| chr5:650589
|
G | A | 20 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | 20 | HG01175.hp1 HG01255.hp1 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.1779-2399G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650589 | ||||||
| chr5:650590
|
G | GGCGTGAC others(65): Show |
1 | a0002c0002t0001g0070 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1779-2398_1779-239 others(76): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650590 | ||||||
| chr5:650590
|
G | GGCGTGGA others(170): Show |
7 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(4): Show | 7 | HG01255.hp1 HG02109.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1779-2398_1779-239 others(181): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650590 | ||||||
| chr5:650590
|
G | GGCGTGGA others(15): Show |
4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2398_1779-239 others(26): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650590 | ||||||
| chr5:650590
|
G | GGTGTGAC | 6 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-2398_1779-239 others(11): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650590 | ||||||
| chr5:650598
|
T | C | 2 | a0002c0002t0001g0075a0002c0002t0001g0087 | 2 | NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1779-2390T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650598 | ||||||
| chr5:650598
|
T | G | 4 | a0002c0002t0001g0073a0002c0002t0001g0077a0002c0002t0001g0080others(1): Show | 4 | HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2390T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650598 | ||||||
| chr5:650603
|
C | CTGAGGCG others(5): Show |
2 | a0002c0002t0001g0075a0002c0002t0001g0087 | 2 | NA20752.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1779-2383_1779-238 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650603 | |||||
| chr5:650617
|
C | CTG | 20 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | 20 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.1779-2370_1779-236 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650617 | |||||
| chr5:650617
|
C | CTGTGAGG others(115): Show |
6 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-2369_1779-236 others(126): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650617 | |||||
| chr5:650623
|
T | C | 11 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(8): Show | 11 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.1779-2365T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650623 | ||||||
| chr5:650625
|
T | TG | 8 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0077others(5): Show | 8 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.1779-2362dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650625 | |||||
| chr5:650636
|
C | T | 19 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(16): Show | 19 | HG01175.hp1 HG01255.hp1 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.1779-2352C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650636 | ||||||
| chr5:650637
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1779-2351G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650637 | ||||||
| chr5:650638
|
TG | T | 12 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0073others(9): Show | 12 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(9): Show |
intron_variant | MODIFIER | c.1779-2348delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650638 | |||||
| chr5:650639
|
G | GACTGTGA others(74): Show |
3 | a0002c0002t0001g0070a0002c0002t0001g0081a0002c0002t0001g0082 | 3 | HG01243.hp1 HG04115.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1779-2349_1779-234 others(85): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650639 | ||||||
| chr5:650650
|
T | TGTGACTG others(2088): Show |
1 | a0001c0001t0001g0048 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2099): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2088): Show |
3 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041 | 3 | HG00673.hp2 NA18948.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2099): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2075): Show |
1 | a0001c0001t0001g0068 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2086): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2113): Show |
1 | a0001c0001t0001g0047 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2124): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2089): Show |
2 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | NA18950.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2100): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2113): Show |
1 | a0001c0001t0001g0028 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2124): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2115): Show |
2 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2126): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2117): Show |
1 | a0001c0001t0001g0043 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2128): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2101): Show |
1 | a0001c0001t0001g0061 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2112): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2102): Show |
1 | a0001c0001t0001g0045 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2113): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2115): Show |
1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2126): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2102): Show |
1 | a0001c0001t0001g0038 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2113): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2115): Show |
14 | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0033others(11): Show | 14 | HG00673.hp1 HG01070.hp2 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2126): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2102): Show |
3 | a0001c0001t0001g0060a0001c0001t0001g0062a0001c0001t0001g0089 | 3 | HG00741.hp2 NA19065.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2113): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2115): Show |
1 | a0001c0001t0001g0053 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2126): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2089): Show |
1 | a0001c0001t0001g0067 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2100): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2102): Show |
2 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | HG01192.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.1779-2258_1779-225 others(2113): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(2101): Show |
2 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | HG02129.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.1779-2272_1779-227 others(2112): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(995): Show |
7 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(4): Show | 8 | HG01069.hp1 HG01070.hp1 HG01256.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2326_1779-232 others(1006): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(982): Show |
1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1779-2326_1779-232 others(993): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(995): Show |
1 | a0001c0001t0001g0007 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1779-2326_1779-232 others(1006): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(995): Show |
1 | a0001c0001t0001g0004 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1779-2326_1779-232 others(1006): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(965): Show |
1 | a0001c0001t0001g0050 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1779-2326_1779-232 others(976): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650650
|
T | TGTGACTG others(1578): Show |
1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1779-2326_1779-232 others(1589): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650650 | |||||
| chr5:650652
|
T | TGACTGTG others(572): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2326_1779-232 others(583): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650652 | |||||
| chr5:650663
|
C | T | 1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1779-2325C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650663 | ||||||
| chr5:650664
|
G | A | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1779-2324G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650664 | ||||||
| chr5:650677
|
T | C | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2311T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650677 | ||||||
| chr5:650677
|
T | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2311T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650677 | ||||||
| chr5:650679
|
T | TGACTGTG others(2089): Show |
1 | a0001c0001t0001g0055 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2100): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650679 | |||||
| chr5:650682
|
CTGTGAGG others(227): Show |
C | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1779-2303_1779-207 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650682 | |||||
| chr5:650690
|
T | C | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2298T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650690 | ||||||
| chr5:650709
|
C | CTGTGAGG others(1049): Show |
1 | a0001c0001t0001g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1779-2272_1779-227 others(1060): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650709 | |||||
| chr5:650717
|
C | T | 11 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0013others(8): Show | 11 | HG00735.hp1 HG01069.hp2 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.1779-2271C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650717 | ||||||
| chr5:650719
|
TG | T | 10 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0013others(7): Show | 10 | HG00735.hp1 HG01069.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.1779-2267delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650719 | |||||
| chr5:650720
|
G | GACTGTGA others(2293): Show |
1 | a0001c0001t0001g0063 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1779-2268_1779-226 others(2304): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650720 | ||||||
| chr5:650720
|
G | GGACTGTG others(2114): Show |
1 | a0001c0001t0001g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1779-2258_1779-225 others(2125): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650720 | |||||
| chr5:650731
|
C | G | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2257C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650731 | ||||||
| chr5:650731
|
C | T | 4 | a0001c0001t0001g0030a0003c0005t0002g0014a0003c0005t0002g0019others(1): Show | 5 | HG02451.hp2 NA18960.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-2257C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650731 | ||||||
| chr5:650732
|
G | A | 1 | a0001c0006t0001g0024 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1779-2256G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650732 | ||||||
| chr5:650733
|
TG | T | 12 | a0001c0001t0001g0010a0001c0001t0001g0030a0002c0002t0001g0071others(9): Show | 12 | HG01175.hp1 HG01433.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.1779-2253delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650733 | |||||
| chr5:650734
|
G | GACTGTGA others(5): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2254_1779-225 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650734 | ||||||
| chr5:650745
|
G | C | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2243G>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650745 | ||||||
| chr5:650745
|
G | T | 23 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(20): Show | 24 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.1779-2243G>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650745 | ||||||
| chr5:650747
|
T | TG | 8 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0075others(5): Show | 8 | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-2240dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650747 | |||||
| chr5:650747
|
T | TGACTGTG others(7): Show |
10 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(7): Show | 11 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.1779-2230_1779-221 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650747 | |||||
| chr5:650761
|
G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0013 | 3 | HG02109.hp1 HG02109.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1779-2227G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650761 | ||||||
| chr5:650772
|
T | C | 2 | a0001c0001t0001g0010a0003c0003t0002g0023 | 2 | HG01256.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.1779-2216T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650772 | ||||||
| chr5:650774
|
T | TGACTGTG others(2049): Show |
1 | a0001c0001t0001g0030 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1779-2204_1779-220 others(2060): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650774 | |||||
| chr5:650784
|
G | A | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-2204G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650784 | ||||||
| chr5:650785
|
T | C | 5 | a0001c0001t0001g0010a0002c0002t0001g0074a0002c0002t0001g0078others(2): Show | 5 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-2203T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650785 | ||||||
| chr5:650785
|
T | G | 1 | a0001c0001t0001g0030 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1779-2203T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650785 | ||||||
| chr5:650785
|
T | TGTGACTG others(1037): Show |
1 | a0001c0006t0001g0024 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1779-2196_1779-219 others(1048): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650785 | |||||
| chr5:650785
|
T | TGTGACTG others(1064): Show |
3 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0013 | 3 | HG02109.hp1 HG02109.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1779-2196_1779-219 others(1075): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650785 | |||||
| chr5:650785
|
T | TGTGACTG others(1064): Show |
1 | a0001c0001t0001g0016 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1779-2196_1779-219 others(1075): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650785 | |||||
| chr5:650785
|
T | TGTGACTG others(1023): Show |
1 | a0001c0006t0001g0012 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1779-2196_1779-219 others(1034): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650785 | |||||
| chr5:650787
|
T | TG | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2200dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650787 | |||||
| chr5:650798
|
C | T | 5 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(2): Show | 6 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-2190C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650798 | ||||||
| chr5:650800
|
TG | T | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2186delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650800 | |||||
| chr5:650804
|
CTG | C | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2181_1779-218 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650804 | |||||
| chr5:650812
|
T | C | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2176T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650812 | ||||||
| chr5:650814
|
T | TGACTGTG others(256): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-2164_1779-216 others(267): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650814 | |||||
| chr5:650814
|
TGACTGTG others(20): Show |
T | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1779-2163_1779-213 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650814 | |||||
| chr5:650817
|
CTG | C | 4 | a0002c0002t0001g0074a0002c0002t0001g0078a0002c0002t0001g0084others(1): Show | 4 | HG00735.hp1 HG01069.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2168_1779-216 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650817 | |||||
| chr5:650819
|
G | GTGAGGCG others(56): Show |
5 | a0002c0002t0001g0073a0002c0002t0001g0080a0002c0002t0001g0081others(2): Show | 5 | HG01243.hp1 HG02683.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-2164_1779-216 others(67): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650819 | |||||
| chr5:650819
|
G | GTGAGGCG others(83): Show |
2 | a0002c0002t0001g0070a0002c0002t0001g0077 | 2 | HG02738.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1779-2164_1779-216 others(94): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650819 | |||||
| chr5:650825
|
T | C | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1779-2163T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650825 | ||||||
| chr5:650828
|
GACTGTGA others(89): Show |
G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1779-2159_1779-206 others(100): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650828 | ||||||
| chr5:650830
|
CTG | C | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-2155_1779-215 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650830 | |||||
| chr5:650838
|
C | T | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-2150C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650838 | ||||||
| chr5:650840
|
TG | T | 2 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-2146delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650840 | |||||
| chr5:650852
|
C | T | 12 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(9): Show | 12 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1779-2136C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650852 | ||||||
| chr5:650854
|
TG | T | 11 | a0002c0002t0001g0070a0002c0002t0001g0073a0002c0002t0001g0074others(8): Show | 11 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.1779-2132delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650854 | |||||
| chr5:650854
|
TGGACTGT others(104): Show |
T | 1 | a0003c0003t0002g0023 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1779-2132_1779-202 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650854 | |||||
| chr5:650866
|
C | T | 2 | a0001c0001t0001g0015a0003c0005t0002g0019 | 2 | NA18999.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1779-2122C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650866 | ||||||
| chr5:650869
|
G | GACTGTGA others(189): Show |
1 | a0001c0001t0001g0015 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1779-2119_1779-211 others(200): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650869 | ||||||
| chr5:650869
|
G | GGACTGTG others(6): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1779-2109_1779-210 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650869 | |||||
| chr5:650880
|
C | G | 7 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(4): Show | 8 | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1779-2108C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650880 | ||||||
| chr5:650880
|
C | T | 38 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(35): Show | 39 | HG00673.hp2 HG00735.hp1 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1779-2108C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650880 | ||||||
| chr5:650882
|
TG | T | 42 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(39): Show | 44 | HG00673.hp2 HG00735.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.1779-2104delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650882 | |||||
| chr5:650883
|
G | GACTGTGA others(189): Show |
3 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1779-2105_1779-210 others(200): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650883 | ||||||
| chr5:650894
|
C | T | 41 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0027others(38): Show | 41 | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.1779-2094C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650894 | ||||||
| chr5:650896
|
TG | T | 40 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0027others(37): Show | 40 | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(37): Show |
intron_variant | MODIFIER | c.1779-2090delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650896 | |||||
| chr5:650897
|
G | GACTGTGA others(393): Show |
1 | a0001c0001t0001g0051 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1779-2091_1779-209 others(404): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650897 | ||||||
| chr5:650908
|
T | C | 48 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(45): Show | 49 | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(46): Show |
intron_variant | MODIFIER | c.1779-2080T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650908 | ||||||
| chr5:650908
|
T | TGTGACTG others(19): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1779-2077_1779-207 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650908 | |||||
| chr5:650908
|
T | TGTGACTG others(128): Show |
8 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0037others(5): Show | 8 | HG00673.hp2 HG01175.hp2 HG02015.hp2 others(5): Show |
intron_variant | MODIFIER | c.1779-2077_1779-207 others(139): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650908 | |||||
| chr5:650908
|
T | TGTGACTG others(203): Show |
8 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(5): Show | 9 | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.1779-2077_1779-207 others(214): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650908 | |||||
| chr5:650909
|
G | A | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1779-2079G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650909 | ||||||
| chr5:650910
|
TG | T | 15 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(12): Show | 15 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.1779-2076delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650910 | |||||
| chr5:650911
|
G | GACTGTGA others(5): Show |
5 | a0001c0001t0001g0004a0002c0002t0001g0075a0002c0002t0001g0083others(2): Show | 5 | HG01175.hp1 HG01433.hp1 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-2077_1779-207 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650911 | ||||||
| chr5:650922
|
T | C | 5 | a0001c0001t0001g0004a0002c0002t0001g0075a0002c0002t0001g0083others(2): Show | 5 | HG01175.hp1 HG01433.hp1 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-2066T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650922 | ||||||
| chr5:650924
|
T | TG | 5 | a0001c0001t0001g0004a0002c0002t0001g0075a0002c0002t0001g0083others(2): Show | 5 | HG01175.hp1 HG01433.hp1 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-2063dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650924 | |||||
| chr5:650924
|
T | TGACTGTG others(137): Show |
1 | a0002c0002t0001g0071 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1779-2054_1779-205 others(148): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650924 | |||||
| chr5:650927
|
CTG | C | 2 | a0003c0003t0002g0022a0003c0005t0002g0019 | 2 | HG01258.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1779-2058_1779-205 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650927 | |||||
| chr5:650940
|
CTGTGAGG others(37): Show |
C | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1779-2045_1779-200 others(48): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650940 | |||||
| chr5:650962
|
C | T | 41 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(38): Show | 43 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.1779-2026C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650962 | ||||||
| chr5:650964
|
TG | T | 31 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(28): Show | 33 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.1779-2022delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650964 | |||||
| chr5:650964
|
TGGACTGT others(116): Show |
T | 1 | a0003c0003t0002g0022 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1779-2022_1779-190 others(4): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650964 | |||||
| chr5:650965
|
G | GACTGTGA others(68): Show |
4 | a0002c0002t0001g0075a0002c0002t0001g0083a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG01433.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-2023_1779-202 others(79): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650965 | ||||||
| chr5:650965
|
G | GACTGTGA others(100): Show |
6 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(3): Show | 6 | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-2023_1779-202 others(111): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650965 | ||||||
| chr5:650976
|
C | G | 3 | a0001c0001t0001g0050a0001c0001t0001g0063a0001c0001t0001g0069 | 3 | HG02258.hp1 HG02738.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1779-2012C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650976 | ||||||
| chr5:650976
|
C | T | 14 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0073others(11): Show | 14 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1779-2012C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650976 | ||||||
| chr5:650977
|
G | A | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1779-2011G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650977 | ||||||
| chr5:650979
|
G | GACTGTGA others(530): Show |
2 | a0001c0001t0001g0050a0001c0001t0001g0063 | 2 | HG02258.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1779-2009_1779-200 others(541): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650979 | ||||||
| chr5:650979
|
G | GACTGTGA others(516): Show |
1 | a0001c0001t0001g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1779-2009_1779-200 others(527): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650979 | ||||||
| chr5:650979
|
G | GGACTGTG others(182): Show |
1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(193): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650979 | |||||
| chr5:650981
|
A | G | 3 | a0001c0001t0001g0050a0001c0001t0001g0063a0001c0001t0001g0069 | 3 | HG02258.hp1 HG02738.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1779-2007A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650981 | ||||||
| chr5:650982
|
C | CTGTGAGG others(385): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-1999_1779-199 others(396): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(708): Show |
1 | a0001c0001t0001g0030 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(719): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(450): Show |
3 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0062 | 3 | HG01258.hp2 NA18971.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.1779-1999_1779-199 others(461): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(531): Show |
1 | a0001c0001t0001g0055 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(542): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(571): Show |
1 | a0001c0001t0001g0033 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(582): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(558): Show |
1 | a0001c0001t0001g0035 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(569): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(528): Show |
1 | a0001c0001t0001g0054 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(539): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(544): Show |
18 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0031others(15): Show | 18 | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1779-1999_1779-199 others(555): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(517): Show |
2 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | NA18963.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1779-1999_1779-199 others(528): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(533): Show |
1 | a0001c0001t0001g0065 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(544): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(543): Show |
1 | a0001c0001t0001g0043 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(554): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(50): Show |
10 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 11 | HG01069.hp1 HG01070.hp1 HG01070.hp2 others(8): Show |
intron_variant | MODIFIER | c.1779-1964_1779-196 others(61): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(395): Show |
7 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 7 | HG00673.hp2 HG01175.hp2 HG02015.hp2 others(4): Show |
intron_variant | MODIFIER | c.1779-1959_1779-195 others(406): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(384): Show |
1 | a0001c0001t0001g0046 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1779-1959_1779-195 others(395): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | CTGTGAGG others(12): Show |
14 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0073others(11): Show | 14 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1779-1989_1779-198 others(23): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650982 | |||||
| chr5:650982
|
C | G | 3 | a0001c0001t0001g0050a0001c0001t0001g0063a0001c0001t0001g0069 | 3 | HG02258.hp1 HG02738.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1779-2006C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 650982 | ||||||
| chr5:650984
|
G | GTGAGGGG others(450): Show |
1 | a0001c0001t0001g0039 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(461): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650984 | |||||
| chr5:650984
|
G | GTGAGGGG others(544): Show |
1 | a0001c0001t0001g0060 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1779-1999_1779-199 others(555): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650984 | |||||
| chr5:650984
|
G | GTGAGGTG others(42): Show |
1 | a0001c0001t0001g0004 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1779-1985_1779-198 others(53): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 650984 | |||||
| chr5:651003
|
C | T | 2 | a0002c0002t0001g0071a0003c0005t0002g0014 | 2 | HG02451.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.1779-1985C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651003 | ||||||
| chr5:651005
|
TG | T | 2 | a0002c0002t0001g0071a0003c0005t0002g0014 | 2 | HG02451.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.1779-1981delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651005 | |||||
| chr5:651006
|
G | GGACTGTG others(6): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1779-1971_1779-195 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651006 | |||||
| chr5:651031
|
G | A | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1957G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651031 | ||||||
| chr5:651042
|
G | A | 14 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0073others(11): Show | 14 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1779-1946G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651042 | ||||||
| chr5:651049
|
CTGTGAGG others(9): Show |
C | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1936_1779-192 others(20): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651049 | |||||
| chr5:651057
|
T | C | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(9): Show | 13 | HG01255.hp1 HG02015.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1779-1931T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651057 | ||||||
| chr5:651058
|
G | A | 6 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(3): Show | 6 | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-1930G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651058 | ||||||
| chr5:651059
|
TG | T | 4 | a0002c0002t0001g0075a0002c0002t0001g0083a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG01433.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-1927delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651059 | |||||
| chr5:651076
|
CTG | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1909_1779-190 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651076 | |||||
| chr5:651078
|
G | GAGGTGTG others(2): Show |
6 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(3): Show | 6 | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-1910_1779-190 others(13): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651078 | ||||||
| chr5:651084
|
C | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(9): Show | 12 | HG01255.hp1 HG01256.hp2 HG02015.hp1 others(9): Show |
intron_variant | MODIFIER | c.1779-1904C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651084 | ||||||
| chr5:651085
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1779-1903G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651085 | ||||||
| chr5:651086
|
TG | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(9): Show | 12 | HG01255.hp1 HG01256.hp2 HG02015.hp1 others(9): Show |
intron_variant | MODIFIER | c.1779-1900delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651086 | |||||
| chr5:651087
|
G | GGACTGTG others(28): Show |
1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1779-1891_1779-189 others(39): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651087 | |||||
| chr5:651087
|
G | GGACTGTG others(55): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1779-1891_1779-189 others(66): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651087 | |||||
| chr5:651087
|
G | GGACTGTG others(79): Show |
4 | a0002c0002t0001g0075a0002c0002t0001g0083a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG01433.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-1891_1779-189 others(90): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651087 | |||||
| chr5:651098
|
C | T | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1779-1890C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651098 | ||||||
| chr5:651110
|
G | A | 4 | a0002c0002t0001g0075a0002c0002t0001g0083a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG01433.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-1878G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651110 | ||||||
| chr5:651117
|
C | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-1871C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651117 | ||||||
| chr5:651125
|
C | T | 4 | a0002c0002t0001g0075a0002c0002t0001g0083a0002c0002t0001g0086others(1): Show | 4 | HG01175.hp1 HG01433.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-1863C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651125 | ||||||
| chr5:651137
|
G | A | 1 | a0002c0002t0001g0071 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1779-1851G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651137 | ||||||
| chr5:651142
|
GACTGAGG others(31): Show |
G | 1 | a0003c0005t0002g0014 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1779-1841_1779-180 others(42): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651142 | |||||
| chr5:651144
|
C | CTG | 18 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(15): Show | 18 | HG01175.hp1 HG01255.hp1 HG01256.hp2 others(15): Show |
intron_variant | MODIFIER | c.1779-1843_1779-184 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651144 | |||||
| chr5:651150
|
C | T | 2 | a0002c0002t0001g0071a0003c0003t0002g0022 | 2 | HG01258.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1779-1838C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651150 | ||||||
| chr5:651164
|
T | C | 8 | a0001c0001t0001g0039a0001c0001t0001g0051a0001c0001t0001g0056others(5): Show | 8 | HG01070.hp2 HG01175.hp1 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-1824T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651164 | ||||||
| chr5:651166
|
T | TG | 8 | a0001c0001t0001g0039a0001c0001t0001g0051a0001c0001t0001g0056others(5): Show | 8 | HG01070.hp2 HG01175.hp1 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-1821dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651166 | |||||
| chr5:651166
|
T | TGACTGAG others(1560): Show |
1 | a0001c0001t0001g0004 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1779-1817_1779-181 others(1571): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651166 | |||||
| chr5:651169
|
CTG | C | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1816_1779-181 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651169 | |||||
| chr5:651177
|
T | C | 2 | a0001c0001t0001g0005a0002c0002t0001g0071 | 2 | HG03491.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1779-1811T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651177 | ||||||
| chr5:651179
|
T | TG | 2 | a0001c0001t0001g0005a0002c0002t0001g0071 | 2 | HG03491.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1779-1809_1779-180 others(5): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651179 | ||||||
| chr5:651179
|
TTACTGTG others(59): Show |
T | 1 | a0003c0005t0002g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1779-1808_1779-174 others(70): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651179 | ||||||
| chr5:651180
|
T | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 45 | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.1779-1808T>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651180 | ||||||
| chr5:651190
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1779-1798C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651190 | ||||||
| chr5:651209
|
CTG | C | 7 | a0001c0001t0001g0039a0001c0001t0001g0051a0001c0001t0001g0056others(4): Show | 7 | HG01070.hp2 HG01175.hp1 HG01257.hp1 others(4): Show |
intron_variant | MODIFIER | c.1779-1776_1779-177 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651209 | |||||
| chr5:651211
|
G | GTGAGGTG others(4): Show |
1 | a0002c0002t0001g0071 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1779-1772_1779-177 others(15): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651211 | |||||
| chr5:651236
|
C | CTG | 9 | a0001c0001t0001g0005a0002c0002t0001g0071a0002c0002t0001g0075others(6): Show | 9 | HG01175.hp1 HG01256.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1779-1751_1779-175 others(6): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651236
|
C | CTGAGGCG others(20): Show |
14 | a0001c0001t0001g0004a0002c0002t0001g0070a0002c0002t0001g0072others(11): Show | 14 | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1779-1719_1779-169 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651236
|
C | CTGTGAGG others(1812): Show |
3 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013 | 3 | HG02109.hp2 HG02258.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1779-1750_1779-174 others(1823): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651236
|
C | CTGTGAGG others(1799): Show |
1 | a0001c0001t0001g0003 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1779-1750_1779-174 others(1810): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651236
|
C | CTGTGAGG others(1799): Show |
2 | a0001c0001t0001g0016a0001c0006t0001g0024 | 2 | NA18948.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.1779-1750_1779-174 others(1810): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651236
|
C | CTGTGAGG others(1772): Show |
1 | a0001c0006t0001g0012 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1779-1750_1779-174 others(1783): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651236 | |||||
| chr5:651239
|
A | T | 2 | a0003c0003t0002g0022a0003c0005t0002g0014 | 2 | HG01258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1779-1749A>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651239 | ||||||
| chr5:651241
|
G | A | 2 | a0003c0003t0002g0022a0003c0005t0002g0014 | 2 | HG01258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1779-1747G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651241 | ||||||
| chr5:651242
|
C | G | 2 | a0003c0003t0002g0022a0003c0005t0002g0014 | 2 | HG01258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1779-1746C>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651242 | ||||||
| chr5:651245
|
G | GGACTGTG others(86): Show |
1 | a0002c0002t0001g0080 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1779-1720_1779-171 others(97): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651245 | |||||
| chr5:651245
|
G | GT | 2 | a0003c0003t0002g0022a0003c0005t0002g0014 | 2 | HG01258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1779-1743_1779-174 others(5): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651245 | ||||||
| chr5:651269
|
C | T | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1719C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651269 | ||||||
| chr5:651271
|
TG | T | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1715delG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651271 | |||||
| chr5:651272
|
GGACTGTG others(6): Show |
G | 2 | a0001c0001t0001g0059a0001c0001t0001g0062 | 2 | NA18971.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.1779-1679_1779-166 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651272 | |||||
| chr5:651272
|
GGACTGTG others(19): Show |
G | 3 | a0003c0003t0002g0022a0003c0005t0002g0014a0003c0005t0002g0019 | 3 | HG01258.hp1 HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1779-1692_1779-166 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651272 | |||||
| chr5:651285
|
T | TGACTGTG others(503): Show |
1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-1640_1779-163 others(514): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651285 | |||||
| chr5:651296
|
T | C | 4 | a0001c0006t0001g0012a0003c0003t0002g0020a0003c0003t0002g0023others(1): Show | 4 | HG01255.hp1 HG01256.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1779-1692T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651296 | ||||||
| chr5:651298
|
T | TG | 3 | a0003c0003t0002g0020a0003c0003t0002g0023a0003c0003t0002g0026 | 3 | HG01256.hp2 NA19010.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1779-1689dupG | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651298 | |||||
| chr5:651298
|
T | TGGACTGT others(34): Show |
1 | a0001c0006t0001g0012 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1779-1689_1779-168 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651298 | |||||
| chr5:651308
|
G | A | 7 | a0001c0006t0001g0012a0003c0003t0002g0020a0003c0003t0002g0022others(4): Show | 7 | HG01255.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1779-1680G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651308 | ||||||
| chr5:651308
|
G | GCGTGGAC others(7): Show |
2 | a0001c0001t0001g0016a0001c0006t0001g0024 | 2 | NA18948.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.1779-1680_1779-167 others(18): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651308 | ||||||
| chr5:651323
|
G | A | 9 | a0001c0001t0001g0016a0001c0006t0001g0012a0001c0006t0001g0024others(6): Show | 9 | HG01255.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1779-1665G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651323 | ||||||
| chr5:651323
|
G | GTGGACTG others(20): Show |
5 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(2): Show | 5 | HG02109.hp1 HG02109.hp2 HG02258.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-1654_1779-165 others(31): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | 651323 | |||||
| chr5:651361
|
A | G | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-1627A>G | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651361 | ||||||
| chr5:651404
|
G | A | 1 | a0004c0004t0003g0002 | 2 | NA18971.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1779-1584G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651404 | ||||||
| chr5:651867
|
G | A | 2 | a0002c0002t0001g0083a0002c0002t0001g0087 | 2 | HG01433.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1779-1121G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651867 | ||||||
| chr5:651919
|
C | T | 24 | a0001c0001t0001g0004a0002c0002t0001g0070a0002c0002t0001g0071others(21): Show | 24 | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.1779-1069C>T | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 651919 | ||||||
| chr5:652245
|
T | C | 6 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-743T>C | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 652245 | ||||||
| chr5:652613
|
G | A | 7 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(4): Show | 7 | HG01255.hp1 HG02109.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1779-375G>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 652613 | ||||||
| chr5:652938
|
C | A | 1 | a0001c0001t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1779-50C>A | CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | 652938 |