Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | alen | 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 | alen | 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 |