Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 9620 |
|---|---|
| ensemblid | ENSG00000075275.18 |
| hgncid | 1850 |
| symbol | CELSR1 |
| name | cadherin EGF LAG seven-pass G-type receptor 1 |
| refseq_nuc | NM_001378328.1 |
| refseq_prot | NP_001365257.1 |
| ensembl_nuc | ENST00000674500.2 |
| ensembl_prot | ENSP00000501367.2 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 46361174 |
| end | 46537620 |
| strand | - |
| ver | v1.2 |
| region | chr22:46361174-46537620 |
| region5000 | chr22:46356174-46542620 |
| regionname0 | CELSR1_chr22_46361174_46537620 |
| regionname5000 | CELSR1_chr22_46356174_46542620 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 3019 | 44 | 3 | 10 | 18 | 5 | 8 | 5 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002 | 0/0 | 3019 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0003 | 0/0 | 3019 | 3 | 1 | 1 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0004 | 0/0 | 3019 | 3 | 0 | 0 | 1 | 0 | 2 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0005 | 0/0 | 3019 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0006 | 0/0 | 3019 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0007 | 0/0 | 3019 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0008 | 0/1 | 3019 | 2 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0009 | 0/0 | 3019 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0010 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0011 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0012 | 1/0 | 3019 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0013 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0014 | 0/0 | 3019 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0015 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0016 | 0/0 | 3019 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0017 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0018 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0019 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0020 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0021 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0022 | 0/0 | 3019 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0023 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0024 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0025 | 0/0 | 3019 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0026 | 0/0 | 2888 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0027 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0028 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0029 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0030 | 0/0 | 3019 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0031 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0032 | 0/0 | 3015 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0033 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0034 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0035 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0036 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0037 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0038 | 0/0 | 3026 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0039 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0040 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0041 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0042 | 0/0 | 3019 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0043 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0044 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0045 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0046 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0047 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0048 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0049 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0050 | 0/0 | 3019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 9060 | 26 | 1 | 5 | 14 | 2 | 4 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0002 | 0/0 | 9060 | 5 | 0 | 2 | 1 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0003 | 0/0 | 9060 | 3 | 0 | 0 | 1 | 0 | 2 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0004 | 0/0 | 9060 | 2 | 0 | 0 | 0 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0005 | 0/0 | 9060 | 2 | 0 | 1 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0006 | 0/0 | 9060 | 2 | 1 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0007 | 0/0 | 9081 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0008 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0009 | 1/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0010 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0011 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0012 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0013 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0014 | 0/1 | 9060 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0015 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0016 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0017 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0018 | 0/0 | 9048 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0019 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0020 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0021 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0022 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0023 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0024 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0025 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0026 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0027 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0028 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0029 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0030 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0031 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0032 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0033 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0034 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0035 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0036 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0037 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0038 | 0/0 | 8939 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0039 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0040 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0041 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0042 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0043 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0044 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0045 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0046 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0047 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0048 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0049 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0050 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0051 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0052 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0053 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0054 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0055 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0056 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0057 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0058 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0059 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0060 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0061 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0062 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0063 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0064 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0065 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0066 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0067 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0068 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0069 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| c0070 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 2500 | 74 | 19 | 19 | 19 | 6 | 10 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0002 | 0/1 | 2500 | 12 | 6 | 4 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0003 | 0/0 | 2473 | 4 | 4 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0004 | 0/0 | 2500 | 2 | 2 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0005 | 0/0 | 2500 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0006 | 0/0 | 2500 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0007 | 0/0 | 2463 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0008 | 0/0 | 2473 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0009 | 0/0 | 2500 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0010 | 0/0 | 2500 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0011 | 0/0 | 2500 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0012 | 0/0 | 2500 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0013 | 0/0 | 2500 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0014 | 0/0 | 2500 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0015 | 0/0 | 2500 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| t0016 | 0/0 | 2500 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0006 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0016 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 9060 | 26 | 1 | 5 | 14 | 2 | 4 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0002 | 0/0 | 9060 | 5 | 0 | 2 | 1 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0004 | 0/0 | 9060 | 2 | 0 | 0 | 0 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0006 | 0/0 | 9060 | 2 | 1 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0025 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0027 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0028 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0029 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0031 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0034 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0039 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0040 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0044 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0012 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0016 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0051 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0003c0005 | 0/0 | 9060 | 2 | 0 | 1 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0003c0015 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0004c0003 | 0/0 | 9060 | 3 | 0 | 0 | 1 | 0 | 2 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0005c0019 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0005c0048 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0006c0017 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0006c0026 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0007c0013 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0007c0023 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0008c0014 | 0/1 | 9060 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0008c0033 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0009c0053 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0009c0054 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0010c0069 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0011c0011 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0012c0009 | 1/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0013c0010 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0014c0055 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0015c0045 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0016c0047 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0017c0020 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0018c0046 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0019c0041 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0020c0043 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0021c0030 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0022c0050 | 0/0 | 9060 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0023c0042 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0024c0021 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0025c0024 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0026c0038 | 0/0 | 8939 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0027c0052 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0028c0049 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0029c0037 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0030c0036 | 0/0 | 9060 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0031c0022 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0032c0018 | 0/0 | 9048 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0033c0035 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0034c0032 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0035c0057 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0036c0056 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0037c0008 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0038c0007 | 0/0 | 9081 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0039c0068 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0040c0067 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0041c0066 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0042c0061 | 0/0 | 9060 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0043c0058 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0044c0060 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0045c0059 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0046c0065 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0047c0063 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0048c0064 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0049c0062 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0050c0070 | 0/0 | 9060 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 11559 | 22 | 1 | 4 | 13 | 1 | 3 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0001t0011 | 0/0 | 11559 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0001t0012 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0001t0014 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0001t0016 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0002t0001 | 0/0 | 11559 | 5 | 0 | 2 | 1 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0004t0001 | 0/0 | 11559 | 2 | 0 | 0 | 0 | 1 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0006t0001 | 0/0 | 11559 | 2 | 1 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0025t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0027t0001 | 0/0 | 11559 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0028t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0029t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0031t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0034t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0039t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0040t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0001c0044t0001 | 0/0 | 11559 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0012t0003 | 0/0 | 11532 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0016t0003 | 0/0 | 11532 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0002c0051t0003 | 0/0 | 11532 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0003c0005t0002 | 0/0 | 11559 | 2 | 0 | 1 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0003c0015t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0004c0003t0001 | 0/0 | 11559 | 2 | 0 | 0 | 1 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0004c0003t0015 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0005c0019t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0005c0048t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0006c0017t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0006c0026t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0007c0013t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0007c0023t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0008c0014t0002 | 0/1 | 11559 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0008c0033t0002 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0009c0053t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0009c0054t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0010c0069t0005 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0011c0011t0002 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0012c0009t0001 | 1/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0013c0010t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0014c0055t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0015c0045t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0016c0047t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0017c0020t0002 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0018c0046t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0019c0041t0010 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0020c0043t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0021c0030t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0022c0050t0001 | 0/0 | 11559 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0023c0042t0002 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0024c0021t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0025c0024t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0026c0038t0008 | 0/0 | 11411 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0027c0052t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0028c0049t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0029c0037t0006 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0030c0036t0001 | 0/0 | 11559 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0031c0022t0004 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0032c0018t0002 | 0/0 | 11547 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0033c0035t0002 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0034c0032t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0035c0057t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0036c0056t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0037c0008t0001 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0038c0007t0001 | 0/0 | 11580 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0039c0068t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0040c0067t0009 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0041c0066t0002 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0042c0061t0002 | 0/0 | 11559 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0043c0058t0004 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0044c0060t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0045c0059t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0046c0065t0002 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0047c0063t0003 | 0/0 | 11532 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0048c0064t0001 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0049c0062t0013 | 0/0 | 11559 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| a0050c0070t0007 | 0/0 | 11522 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | copy fasta | chr22 | 46356174 | 46542620 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0011g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0012g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0014g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0001t0016g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0002t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0002t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0004t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0004t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0006t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0006t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0025t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0027t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0028t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0029t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0031t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0034t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0039t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0040t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0001c0044t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0002c0012t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0002c0016t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0002c0051t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0003c0005t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0003c0005t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0003c0015t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0004c0003t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0004c0003t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0004c0003t0015g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0005c0019t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0005c0048t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0006c0017t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0006c0026t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0007c0013t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0007c0023t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0008c0014t0002g0016 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0008c0033t0002g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0009c0053t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0009c0054t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0010c0069t0005g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0011c0011t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0012c0009t0001g0006 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0013c0010t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0014c0055t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0015c0045t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0016c0047t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0017c0020t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0018c0046t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0019c0041t0010g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0020c0043t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0021c0030t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0022c0050t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0023c0042t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0024c0021t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0025c0024t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0026c0038t0008g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0027c0052t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0028c0049t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0029c0037t0006g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0030c0036t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0031c0022t0004g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0032c0018t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0033c0035t0002g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0034c0032t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0035c0057t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0036c0056t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0037c0008t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0038c0007t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0039c0068t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0040c0067t0009g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0041c0066t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0042c0061t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0043c0058t0004g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0044c0060t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0045c0059t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0046c0065t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0047c0063t0003g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0048c0064t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0049c0062t0013g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| a0050c0070t0007g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0025 | c0024 | t0001 | g0046 | EUR | GBR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00099 | hp2 | a0001 | c0031 | t0001 | g0047 | EUR | GBR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00609 | hp1 | a0004 | c0003 | t0001 | g0009 | EAS | CHS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00609 | hp2 | a0001 | c0044 | t0001 | g0027 | EAS | CHS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | CHS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | CHS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00639 | hp2 | a0008 | c0033 | t0002 | g0050 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00642 | hp1 | a0009 | c0053 | t0001 | g0090 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00642 | hp2 | a0007 | c0013 | t0001 | g0023 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00735 | hp1 | a0001 | c0028 | t0001 | g0079 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00735 | hp2 | a0037 | c0008 | t0001 | g0005 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00741 | hp1 | a0001 | c0002 | t0001 | g0017 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0084 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01081 | hp2 | a0006 | c0026 | t0001 | g0048 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01099 | hp1 | a0021 | c0030 | t0001 | g0033 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01099 | hp2 | a0038 | c0007 | t0001 | g0004 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01106 | hp1 | a0003 | c0005 | t0002 | g0065 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01106 | hp2 | a0034 | c0032 | t0001 | g0083 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01109 | hp1 | a0015 | c0045 | t0001 | g0062 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01109 | hp2 | a0001 | c0025 | t0001 | g0070 | AMR | PUR | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0019 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01255 | hp2 | a0001 | c0001 | t0014 | g0060 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01258 | hp2 | a0009 | c0054 | t0001 | g0089 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01261 | hp1 | a0006 | c0017 | t0001 | g0018 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01261 | hp2 | a0033 | c0035 | t0002 | g0066 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01496 | hp1 | a0001 | c0039 | t0001 | g0073 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01496 | hp2 | a0042 | c0061 | t0002 | g0097 | AMR | CLM | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0037 | EUR | IBS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG01515 | hp2 | a0001 | c0004 | t0001 | g0057 | EUR | IBS | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02027 | hp2 | a0001 | c0002 | t0001 | g0015 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02055 | hp1 | a0005 | c0019 | t0001 | g0024 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02055 | hp2 | a0001 | c0029 | t0001 | g0038 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02129 | hp1 | a0001 | c0027 | t0001 | g0040 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02129 | hp2 | a0001 | c0006 | t0001 | g0044 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02132 | hp1 | a0001 | c0001 | t0011 | g0028 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | KHV | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02145 | hp1 | a0018 | c0046 | t0001 | g0030 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02145 | hp2 | a0001 | c0006 | t0001 | g0064 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02258 | hp1 | a0011 | c0011 | t0002 | g0011 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02258 | hp2 | a0010 | c0069 | t0005 | g0001 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02615 | hp1 | a0029 | c0037 | t0006 | g0002 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02615 | hp2 | a0002 | c0016 | t0003 | g0025 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02630 | hp1 | a0045 | c0059 | t0001 | g0094 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02630 | hp2 | a0002 | c0012 | t0003 | g0012 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02647 | hp1 | a0002 | c0051 | t0003 | g0053 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02647 | hp2 | a0044 | c0060 | t0001 | g0095 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02683 | hp1 | a0001 | c0040 | t0001 | g0088 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02683 | hp2 | a0001 | c0002 | t0001 | g0014 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02735 | hp1 | a0014 | c0055 | t0001 | g0091 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02735 | hp2 | a0004 | c0003 | t0015 | g0010 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02818 | hp1 | a0027 | c0052 | t0001 | g0031 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02818 | hp2 | a0017 | c0020 | t0002 | g0020 | AFR | GWD | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02922 | hp1 | a0048 | c0064 | t0001 | g0098 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02922 | hp2 | a0043 | c0058 | t0004 | g0096 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02976 | hp1 | a0024 | c0021 | t0001 | g0061 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02976 | hp2 | a0046 | c0065 | t0002 | g0101 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03195 | hp1 | a0036 | c0056 | t0001 | g0092 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03195 | hp2 | a0031 | c0022 | t0004 | g0039 | AFR | ESN | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03579 | hp1 | a0041 | c0066 | t0002 | g0103 | AFR | MSL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03579 | hp2 | a0040 | c0067 | t0009 | g0104 | AFR | MSL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03654 | hp1 | a0001 | c0034 | t0001 | g0058 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03710 | hp1 | a0004 | c0003 | t0001 | g0008 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0075 | SAS | PJL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03834 | hp1 | a0001 | c0004 | t0001 | g0032 | SAS | BEB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03834 | hp2 | a0016 | c0047 | t0001 | g0035 | SAS | BEB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG04228 | hp1 | a0001 | c0001 | t0012 | g0034 | SAS | STU | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0051 | SAS | STU | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | CHB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | CHB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18906 | hp1 | a0028 | c0049 | t0001 | g0086 | AFR | YRI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18906 | hp2 | a0049 | c0062 | t0013 | g0100 | AFR | YRI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18970 | hp2 | a0022 | c0050 | t0001 | g0055 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19030 | hp1 | a0050 | c0070 | t0007 | g0003 | AFR | LWK | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19030 | hp2 | a0035 | c0057 | t0001 | g0093 | AFR | LWK | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19043 | hp1 | a0007 | c0023 | t0001 | g0042 | AFR | LWK | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19043 | hp2 | a0020 | c0043 | t0001 | g0052 | AFR | LWK | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20129 | hp1 | a0039 | c0068 | t0001 | g0102 | AFR | ASW | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20129 | hp2 | a0003 | c0015 | t0001 | g0022 | AFR | ASW | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20752 | hp1 | a0001 | c0001 | t0016 | g0069 | EUR | TSI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20752 | hp2 | a0030 | c0036 | t0001 | g0076 | EUR | TSI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20805 | hp1 | a0001 | c0002 | t0001 | g0013 | EUR | TSI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20805 | hp2 | a0003 | c0005 | t0002 | g0036 | EUR | TSI | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02486 | hp1 | a0013 | c0010 | t0001 | g0007 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG02486 | hp2 | a0005 | c0048 | t0001 | g0080 | AFR | ACB | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03471 | hp1 | a0047 | c0063 | t0003 | g0099 | AFR | MSL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG03471 | hp2 | a0032 | c0018 | t0002 | g0021 | AFR | MSL | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG06807 | hp1 | a0023 | c0042 | t0002 | g0054 | AFR | USA | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| HG06807 | hp2 | a0019 | c0041 | t0010 | g0068 | AFR | USA | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20300 | hp1 | a0026 | c0038 | t0008 | g0026 | AFR | USA | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | USA | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| homoSapiens_chm13v2 | hp1 | a0008 | c0014 | t0002 | g0016 | REF | REF | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| homoSapiens_grch38 | hp1 | a0012 | c0009 | t0001 | g0006 | REF | REF | CELSR1_chr22_46356174_46542620 | CELSR1 | chr22 | 46356174 | 46542620 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:46361176
|
C | G | 1 | a0049 | 1 | NA18906.hp2 | splice_region_variant | LOW | c.*2047G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | chr22 | 46361176 | ||||||
| chr22:46364084
|
G | C | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8947C>G | p.Pro2983Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9397/11559 | 8947/9060 | 2983/3019 | chr22 | 46364084 | ||
| chr22:46364133
|
CGTGCGCG others(5): Show |
C | 1 | a0032 | 1 | HG03471.hp2 | disruptive_inframe_deletion | MODERATE | c.8886_8897delATCCTC others(6): Show |
p.Ser2963_Thr2966del | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9347/11559 | 8886/9060 | 2962/3019 | chr22 | 46364133 | ||
| chr22:46364140
|
G | A | 4 | a0023a0029a0042others(1): Show | 4 | HG01496.hp2 HG02615.hp1 HG02976.hp2 others(1): Show |
missense_variant | MODERATE | c.8891C>T | p.Ser2964Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9341/11559 | 8891/9060 | 2964/3019 | chr22 | 46364140 | ||
| chr22:46364168
|
C | T | 1 | a0022 | 1 | NA18970.hp2 | missense_variant | MODERATE | c.8863G>A | p.Ala2955Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9313/11559 | 8863/9060 | 2955/3019 | chr22 | 46364168 | ||
| chr22:46364189
|
C | T | 20 | a0002a0003a0005others(17): Show | 26 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(23): Show |
missense_variant | MODERATE | c.8842G>A | p.Gly2948Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9292/11559 | 8842/9060 | 2948/3019 | chr22 | 46364189 | ||
| chr22:46364570
|
GTCCGGGG others(114): Show |
G | 1 | a0026 | 1 | NA20300.hp1 | frameshift_variant | HIGH | c.8600_8720del | p.Ser2867fs | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9170/11559 | 8600/9060 | 2867/3019 | chr22 | 46364570 | ||
| chr22:46364584
|
C | G | 22 | a0003a0005a0006others(19): Show | 28 | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(25): Show |
missense_variant | MODERATE | c.8707G>C | p.Glu2903Gln | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9157/11559 | 8707/9060 | 2903/3019 | chr22 | 46364584 | ||
| chr22:46364712
|
G | C | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8579C>G | p.Pro2860Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9029/11559 | 8579/9060 | 2860/3019 | chr22 | 46364712 | ||
| chr22:46364715
|
A | G | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8576T>C | p.Val2859Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9026/11559 | 8576/9060 | 2859/3019 | chr22 | 46364715 | ||
| chr22:46364716
|
C | A | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8575G>T | p.Val2859Phe | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9025/11559 | 8575/9060 | 2859/3019 | chr22 | 46364716 | ||
| chr22:46364722
|
T | A | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8569A>T | p.Asn2857Tyr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9019/11559 | 8569/9060 | 2857/3019 | chr22 | 46364722 | ||
| chr22:46364724
|
G | A | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8567C>T | p.Ala2856Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9017/11559 | 8567/9060 | 2856/3019 | chr22 | 46364724 | ||
| chr22:46364727
|
A | C | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8564T>G | p.Val2855Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9014/11559 | 8564/9060 | 2855/3019 | chr22 | 46364727 | ||
| chr22:46365600
|
C | G | 34 | a0002a0003a0005others(31): Show | 41 | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(38): Show |
missense_variant | MODERATE | c.8390G>C | p.Cys2797Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/35 | 8840/11559 | 8390/9060 | 2797/3019 | chr22 | 46365600 | ||
| chr22:46367073
|
G | C | 1 | a0021 | 1 | HG01099.hp1 | missense_variant | MODERATE | c.8125C>G | p.Arg2709Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/35 | 8575/11559 | 8125/9060 | 2709/3019 | chr22 | 46367073 | ||
| chr22:46367091
|
C | T | 1 | a0026 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.8107G>A | p.Val2703Met | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/35 | 8557/11559 | 8107/9060 | 2703/3019 | chr22 | 46367091 | ||
| chr22:46369696
|
A | G | 1 | a0039 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.7868T>C | p.Ile2623Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/35 | 8318/11559 | 7868/9060 | 2623/3019 | chr22 | 46369696 | ||
| chr22:46381999
|
C | G | 2 | a0029a0046 | 2 | HG02615.hp1 HG02976.hp2 |
missense_variant | MODERATE | c.6935G>C | p.Arg2312Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/35 | 7385/11559 | 6935/9060 | 2312/3019 | chr22 | 46381999 | ||
| chr22:46384549
|
C | T | 1 | a0025 | 1 | HG00099.hp1 | missense_variant | MODERATE | c.6877G>A | p.Glu2293Lys | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/35 | 7327/11559 | 6877/9060 | 2293/3019 | chr22 | 46384549 | ||
| chr22:46384624
|
T | C | 29 | a0002a0003a0007others(26): Show | 35 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(32): Show |
missense_variant | MODERATE | c.6802A>G | p.Thr2268Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/35 | 7252/11559 | 6802/9060 | 2268/3019 | chr22 | 46384624 | ||
| chr22:46386485
|
C | T | 1 | a0008 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
missense_variant | MODERATE | c.6656G>A | p.Arg2219His | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/35 | 7106/11559 | 6656/9060 | 2219/3019 | chr22 | 46386485 | ||
| chr22:46390418
|
T | C | 31 | a0002a0003a0007others(28): Show | 37 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(34): Show |
missense_variant | MODERATE | c.6319A>G | p.Ile2107Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/35 | 6769/11559 | 6319/9060 | 2107/3019 | chr22 | 46390418 | ||
| chr22:46391647
|
G | A | 3 | a0011a0018a0028 | 3 | HG02145.hp1 HG02258.hp1 NA18906.hp1 |
missense_variant | MODERATE | c.6134C>T | p.Thr2045Met | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/35 | 6584/11559 | 6134/9060 | 2045/3019 | chr22 | 46391647 | ||
| chr22:46391797
|
A | G | 30 | a0002a0003a0007others(27): Show | 36 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(33): Show |
missense_variant | MODERATE | c.5984T>C | p.Leu1995Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/35 | 6434/11559 | 5984/9060 | 1995/3019 | chr22 | 46391797 | ||
| chr22:46391800
|
A | G | 22 | a0002a0003a0008others(19): Show | 27 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(24): Show |
missense_variant | MODERATE | c.5981T>C | p.Leu1994Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/35 | 6431/11559 | 5981/9060 | 1994/3019 | chr22 | 46391800 | ||
| chr22:46397695
|
A | G | 4 | a0015a0020a0035others(1): Show | 4 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(1): Show |
missense_variant | MODERATE | c.5680T>C | p.Tyr1894His | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/35 | 6130/11559 | 5680/9060 | 1894/3019 | chr22 | 46397695 | ||
| chr22:46397724
|
T | C | 1 | a0034 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.5651A>G | p.Asn1884Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/35 | 6101/11559 | 5651/9060 | 1884/3019 | chr22 | 46397724 | ||
| chr22:46409875
|
C | T | 1 | a0038 | 1 | HG01099.hp2 | missense_variant | MODERATE | c.4939G>A | p.Ala1647Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/35 | 5389/11559 | 4939/9060 | 1647/3019 | chr22 | 46409875 | ||
| chr22:46410428
|
C | T | 1 | a0049 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.4903G>A | p.Gly1635Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/35 | 5353/11559 | 4903/9060 | 1635/3019 | chr22 | 46410428 | ||
| chr22:46433469
|
G | A | 1 | a0019 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.4535C>T | p.Thr1512Met | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/35 | 4985/11559 | 4535/9060 | 1512/3019 | chr22 | 46433469 | ||
| chr22:46464166
|
C | T | 8 | a0005a0015a0016others(5): Show | 9 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(6): Show |
missense_variant | MODERATE | c.3724G>A | p.Val1242Ile | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/35 | 4174/11559 | 3724/9060 | 1242/3019 | chr22 | 46464166 | ||
| chr22:46533795
|
A | G | 47 | a0001a0002a0003others(44): Show | 99 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(96): Show |
missense_variant | MODERATE | c.3376T>C | p.Cys1126Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3826/11559 | 3376/9060 | 1126/3019 | chr22 | 46533795 | ||
| chr22:46534116
|
C | A | 1 | a0009 | 2 | HG00642.hp1 HG01258.hp2 |
missense_variant | MODERATE | c.3055G>T | p.Ala1019Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3505/11559 | 3055/9060 | 1019/3019 | chr22 | 46534116 | ||
| chr22:46534241
|
G | A | 1 | a0042 | 1 | HG01496.hp2 | missense_variant | MODERATE | c.2930C>T | p.Thr977Ile | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3380/11559 | 2930/9060 | 977/3019 | chr22 | 46534241 | ||
| chr22:46534704
|
G | A | 1 | a0014 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.2467C>T | p.Arg823Cys | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2917/11559 | 2467/9060 | 823/3019 | chr22 | 46534704 | ||
| chr22:46534853
|
G | A | 2 | a0035a0036 | 2 | HG03195.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.2318C>T | p.Ala773Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2768/11559 | 2318/9060 | 773/3019 | chr22 | 46534853 | ||
| chr22:46535180
|
G | C | 34 | a0001a0002a0003others(31): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(83): Show |
missense_variant | MODERATE | c.1991C>G | p.Ser664Trp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2441/11559 | 1991/9060 | 664/3019 | chr22 | 46535180 | ||
| chr22:46535412
|
T | C | 4 | a0046a0047a0048others(1): Show | 4 | HG02922.hp1 HG02976.hp2 HG03471.hp1 others(1): Show |
missense_variant | MODERATE | c.1759A>G | p.Ile587Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2209/11559 | 1759/9060 | 587/3019 | chr22 | 46535412 | ||
| chr22:46535427
|
A | G | 1 | a0011 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.1744T>C | p.Tyr582His | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2194/11559 | 1744/9060 | 582/3019 | chr22 | 46535427 | ||
| chr22:46535505
|
G | C | 1 | a0004 | 3 | HG00609.hp1 HG02735.hp2 HG03710.hp1 |
missense_variant | MODERATE | c.1666C>G | p.Leu556Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2116/11559 | 1666/9060 | 556/3019 | chr22 | 46535505 | ||
| chr22:46536737
|
G | A | 3 | a0039a0040a0041 | 3 | HG03579.hp1 HG03579.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.434C>T | p.Ser145Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 884/11559 | 434/9060 | 145/3019 | chr22 | 46536737 | ||
| chr22:46536756
|
A | G | 1 | a0037 | 1 | HG00735.hp2 | missense_variant | MODERATE | c.415T>C | p.Cys139Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 865/11559 | 415/9060 | 139/3019 | chr22 | 46536756 | ||
| chr22:46536784
|
C | CCCGCAGA others(14): Show |
1 | a0038 | 1 | HG01099.hp2 | disruptive_inframe_insertion | MODERATE | c.366_386dupAACCGGTG others(13): Show |
p.Gly129_Ala130insTh others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 836/11559 | 386/9060 | 129/3019 | chr22 | 46536784 | ||
| chr22:46536816
|
G | A | 1 | a0050 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.355C>T | p.Arg119Trp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 805/11559 | 355/9060 | 119/3019 | chr22 | 46536816 | ||
| chr22:46536891
|
C | T | 1 | a0010 | 1 | HG02258.hp2 | missense_variant | MODERATE | c.280G>A | p.Ala94Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 730/11559 | 280/9060 | 94/3019 | chr22 | 46536891 | ||
| chr22:46536957
|
G | A | 12 | a0039a0040a0041others(9): Show | 12 | HG01496.hp2 HG02630.hp1 HG02647.hp2 others(9): Show |
missense_variant | MODERATE | c.214C>T | p.Arg72Trp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 664/11559 | 214/9060 | 72/3019 | chr22 | 46536957 | ||
| chr22:46537034
|
G | A | 1 | a0010 | 1 | HG02258.hp2 | missense_variant | MODERATE | c.137C>T | p.Pro46Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 587/11559 | 137/9060 | 46/3019 | chr22 | 46537034 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:46364037
|
A | G | 7 | a0002c0012a0002c0016a0002c0051others(4): Show | 7 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(4): Show |
synonymous_variant | LOW | c.8994T>C | p.Asn2998Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9444/11559 | 8994/9060 | 2998/3019 | chr22 | 46364037 | ||
| chr22:46364043
|
G | C | 2 | a0018c0046a0028c0049 | 2 | HG02145.hp1 NA18906.hp1 |
synonymous_variant | LOW | c.8988C>G | p.Ala2996Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9438/11559 | 8988/9060 | 2996/3019 | chr22 | 46364043 | ||
| chr22:46364070
|
C | T | 5 | a0002c0012a0002c0016a0002c0051others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
synonymous_variant | LOW | c.8961G>A | p.Pro2987Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9411/11559 | 8961/9060 | 2987/3019 | chr22 | 46364070 | ||
| chr22:46364205
|
C | T | 6 | a0023c0042a0029c0037a0032c0018others(3): Show | 6 | HG01496.hp2 HG02615.hp1 HG02976.hp2 others(3): Show |
synonymous_variant | LOW | c.8826G>A | p.Thr2942Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/35 | 9276/11559 | 8826/9060 | 2942/3019 | chr22 | 46364205 | ||
| chr22:46364708
|
G | T | 1 | a0026c0038 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.8583C>A | p.Ala2861Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9033/11559 | 8583/9060 | 2861/3019 | chr22 | 46364708 | ||
| chr22:46364711
|
C | T | 1 | a0026c0038 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.8580G>A | p.Pro2860Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9030/11559 | 8580/9060 | 2860/3019 | chr22 | 46364711 | ||
| chr22:46365238
|
G | T | 8 | a0011c0011a0023c0042a0026c0038others(5): Show | 8 | HG01496.hp2 HG02258.hp1 HG02615.hp1 others(5): Show |
synonymous_variant | LOW | c.8547C>A | p.Thr2849Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/35 | 8997/11559 | 8547/9060 | 2849/3019 | chr22 | 46365238 | ||
| chr22:46365250
|
G | A | 1 | a0047c0063 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.8535C>T | p.Ala2845Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/35 | 8985/11559 | 8535/9060 | 2845/3019 | chr22 | 46365250 | ||
| chr22:46365668
|
G | C | 2 | a0001c0028a0025c0024 | 2 | HG00099.hp1 HG00735.hp1 |
synonymous_variant | LOW | c.8322C>G | p.Leu2774Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/35 | 8772/11559 | 8322/9060 | 2774/3019 | chr22 | 46365668 | ||
| chr22:46365671
|
C | T | 1 | a0036c0056 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.8319G>A | p.Lys2773Lys | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/35 | 8769/11559 | 8319/9060 | 2773/3019 | chr22 | 46365671 | ||
| chr22:46366448
|
G | A | 3 | a0001c0027a0005c0019a0045c0059 | 3 | HG02055.hp1 HG02129.hp1 HG02630.hp1 |
synonymous_variant | LOW | c.8238C>T | p.Asp2746Asp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/35 | 8688/11559 | 8238/9060 | 2746/3019 | chr22 | 46366448 | ||
| chr22:46366463
|
G | A | 1 | a0001c0028 | 1 | HG00735.hp1 | synonymous_variant | LOW | c.8223C>T | p.Asn2741Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/35 | 8673/11559 | 8223/9060 | 2741/3019 | chr22 | 46366463 | ||
| chr22:46367005
|
G | A | 1 | a0026c0038 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.8193C>T | p.Ala2731Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/35 | 8643/11559 | 8193/9060 | 2731/3019 | chr22 | 46367005 | ||
| chr22:46367110
|
G | A | 2 | a0001c0029a0039c0068 | 2 | HG02055.hp2 NA20129.hp1 |
synonymous_variant | LOW | c.8088C>T | p.Phe2696Phe | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/35 | 8538/11559 | 8088/9060 | 2696/3019 | chr22 | 46367110 | ||
| chr22:46367774
|
A | G | 29 | a0001c0025a0002c0012a0002c0016others(26): Show | 29 | HG00639.hp2 HG00735.hp2 HG01109.hp2 others(26): Show |
synonymous_variant | LOW | c.8034T>C | p.Asp2678Asp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/35 | 8484/11559 | 8034/9060 | 2678/3019 | chr22 | 46367774 | ||
| chr22:46367795
|
C | A | 8 | a0003c0015a0005c0019a0005c0048others(5): Show | 8 | HG00642.hp2 HG02055.hp1 HG02486.hp2 others(5): Show |
synonymous_variant | LOW | c.8013G>T | p.Gly2671Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/35 | 8463/11559 | 8013/9060 | 2671/3019 | chr22 | 46367795 | ||
| chr22:46367837
|
T | C | 7 | a0002c0012a0002c0016a0002c0051others(4): Show | 7 | HG02258.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
synonymous_variant | LOW | c.7971A>G | p.Ala2657Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/35 | 8421/11559 | 7971/9060 | 2657/3019 | chr22 | 46367837 | ||
| chr22:46372914
|
G | A | 3 | a0001c0004a0021c0030a0040c0067 | 4 | HG01099.hp1 HG01515.hp2 HG03579.hp2 others(1): Show |
synonymous_variant | LOW | c.7728C>T | p.Val2576Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/35 | 8178/11559 | 7728/9060 | 2576/3019 | chr22 | 46372914 | ||
| chr22:46377091
|
G | A | 1 | a0001c0039 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.7554C>T | p.Phe2518Phe | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/35 | 8004/11559 | 7554/9060 | 2518/3019 | chr22 | 46377091 | ||
| chr22:46377223
|
G | A | 1 | a0001c0031 | 1 | HG00099.hp2 | synonymous_variant | LOW | c.7422C>T | p.Ala2474Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/35 | 7872/11559 | 7422/9060 | 2474/3019 | chr22 | 46377223 | ||
| chr22:46377250
|
G | T | 1 | a0026c0038 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.7395C>A | p.Val2465Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/35 | 7845/11559 | 7395/9060 | 2465/3019 | chr22 | 46377250 | ||
| chr22:46380850
|
G | A | 2 | a0015c0045a0035c0057 | 2 | HG01109.hp1 NA19030.hp2 |
synonymous_variant | LOW | c.7194C>T | p.Phe2398Phe | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/35 | 7644/11559 | 7194/9060 | 2398/3019 | chr22 | 46380850 | ||
| chr22:46380861
|
G | A | 1 | a0047c0063 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.7183C>T | p.Leu2395Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/35 | 7633/11559 | 7183/9060 | 2395/3019 | chr22 | 46380861 | ||
| chr22:46381920
|
G | A | 1 | a0009c0054 | 1 | HG01258.hp2 | synonymous_variant | LOW | c.7014C>T | p.Val2338Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/35 | 7464/11559 | 7014/9060 | 2338/3019 | chr22 | 46381920 | ||
| chr22:46381944
|
A | G | 1 | a0015c0045 | 1 | HG01109.hp1 | synonymous_variant | LOW | c.6990T>C | p.Pro2330Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/35 | 7440/11559 | 6990/9060 | 2330/3019 | chr22 | 46381944 | ||
| chr22:46381995
|
C | T | 2 | a0008c0014a0008c0033 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
synonymous_variant | LOW | c.6939G>A | p.Pro2313Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/35 | 7389/11559 | 6939/9060 | 2313/3019 | chr22 | 46381995 | ||
| chr22:46386430
|
C | T | 1 | a0047c0063 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.6711G>A | p.Arg2237Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/35 | 7161/11559 | 6711/9060 | 2237/3019 | chr22 | 46386430 | ||
| chr22:46389305
|
G | A | 1 | a0023c0042 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.6540C>T | p.Asp2180Asp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6990/11559 | 6540/9060 | 2180/3019 | chr22 | 46389305 | ||
| chr22:46389404
|
C | T | 8 | a0003c0005a0010c0069a0019c0041others(5): Show | 9 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(6): Show |
synonymous_variant | LOW | c.6441G>A | p.Thr2147Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6891/11559 | 6441/9060 | 2147/3019 | chr22 | 46389404 | ||
| chr22:46389434
|
C | T | 3 | a0040c0067a0045c0059a0047c0063 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
synonymous_variant | LOW | c.6411G>A | p.Ala2137Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6861/11559 | 6411/9060 | 2137/3019 | chr22 | 46389434 | ||
| chr22:46389473
|
C | A | 3 | a0040c0067a0045c0059a0047c0063 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
synonymous_variant | LOW | c.6372G>T | p.Thr2124Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6822/11559 | 6372/9060 | 2124/3019 | chr22 | 46389473 | ||
| chr22:46389479
|
A | G | 3 | a0040c0067a0045c0059a0047c0063 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
synonymous_variant | LOW | c.6366T>C | p.Asn2122Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6816/11559 | 6366/9060 | 2122/3019 | chr22 | 46389479 | ||
| chr22:46389497
|
A | G | 1 | a0016c0047 | 1 | HG03834.hp2 | splice_region_variant&synonymous_variant | LOW | c.6348T>C | p.Asn2116Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/35 | 6798/11559 | 6348/9060 | 2116/3019 | chr22 | 46389497 | ||
| chr22:46391673
|
G | A | 1 | a0023c0042 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.6108C>T | p.Cys2036Cys | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/35 | 6558/11559 | 6108/9060 | 2036/3019 | chr22 | 46391673 | ||
| chr22:46394259
|
G | A | 1 | a0023c0042 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.5847C>T | p.Leu1949Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/35 | 6297/11559 | 5847/9060 | 1949/3019 | chr22 | 46394259 | ||
| chr22:46394262
|
T | C | 1 | a0049c0062 | 1 | NA18906.hp2 | splice_region_variant&synonymous_variant | LOW | c.5844A>G | p.Lys1948Lys | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/35 | 6294/11559 | 5844/9060 | 1948/3019 | chr22 | 46394262 | ||
| chr22:46398578
|
T | C | 3 | a0001c0034a0008c0014a0008c0033 | 3 | HG00639.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
synonymous_variant | LOW | c.5472A>G | p.Gly1824Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/35 | 5922/11559 | 5472/9060 | 1824/3019 | chr22 | 46398578 | ||
| chr22:46398581
|
G | A | 1 | a0045c0059 | 1 | HG02630.hp1 | synonymous_variant | LOW | c.5469C>T | p.Val1823Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/35 | 5919/11559 | 5469/9060 | 1823/3019 | chr22 | 46398581 | ||
| chr22:46409110
|
G | A | 12 | a0003c0005a0003c0015a0010c0069others(9): Show | 13 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(10): Show |
synonymous_variant | LOW | c.5112C>T | p.Asp1704Asp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/35 | 5562/11559 | 5112/9060 | 1704/3019 | chr22 | 46409110 | ||
| chr22:46409137
|
G | A | 1 | a0001c0039 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.5085C>T | p.Ser1695Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/35 | 5535/11559 | 5085/9060 | 1695/3019 | chr22 | 46409137 | ||
| chr22:46410420
|
G | A | 1 | a0001c0040 | 1 | HG02683.hp1 | synonymous_variant | LOW | c.4911C>T | p.Ile1637Ile | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/35 | 5361/11559 | 4911/9060 | 1637/3019 | chr22 | 46410420 | ||
| chr22:46410522
|
G | A | 5 | a0002c0012a0002c0016a0002c0051others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
synonymous_variant | LOW | c.4809C>T | p.Val1603Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/35 | 5259/11559 | 4809/9060 | 1603/3019 | chr22 | 46410522 | ||
| chr22:46411613
|
G | A | 1 | a0006c0017 | 1 | HG01261.hp1 | synonymous_variant | LOW | c.4758C>T | p.Thr1586Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/35 | 5208/11559 | 4758/9060 | 1586/3019 | chr22 | 46411613 | ||
| chr22:46411688
|
A | G | 1 | a0045c0059 | 1 | HG02630.hp1 | synonymous_variant | LOW | c.4683T>C | p.Asp1561Asp | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/35 | 5133/11559 | 4683/9060 | 1561/3019 | chr22 | 46411688 | ||
| chr22:46433480
|
G | A | 7 | a0013c0010a0023c0042a0027c0052others(4): Show | 7 | HG02486.hp1 HG02647.hp2 HG02818.hp1 others(4): Show |
splice_region_variant&synonymous_variant | LOW | c.4524C>T | p.Gly1508Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/35 | 4974/11559 | 4524/9060 | 1508/3019 | chr22 | 46433480 | ||
| chr22:46439218
|
T | C | 2 | a0005c0048a0020c0043 | 2 | HG02486.hp2 NA19043.hp2 |
synonymous_variant | LOW | c.4377A>G | p.Arg1459Arg | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/35 | 4827/11559 | 4377/9060 | 1459/3019 | chr22 | 46439218 | ||
| chr22:46439368
|
G | A | 1 | a0001c0044 | 1 | HG00609.hp2 | synonymous_variant | LOW | c.4227C>T | p.Asn1409Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/35 | 4677/11559 | 4227/9060 | 1409/3019 | chr22 | 46439368 | ||
| chr22:46464152
|
G | A | 1 | a0050c0070 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.3738C>T | p.Asn1246Asn | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/35 | 4188/11559 | 3738/9060 | 1246/3019 | chr22 | 46464152 | ||
| chr22:46464191
|
G | C | 22 | a0001c0006a0002c0012a0002c0051others(19): Show | 23 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(20): Show |
synonymous_variant | LOW | c.3699C>G | p.Ala1233Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/35 | 4149/11559 | 3699/9060 | 1233/3019 | chr22 | 46464191 | ||
| chr22:46464326
|
C | T | 2 | a0024c0021a0050c0070 | 2 | HG02976.hp1 NA19030.hp1 |
synonymous_variant | LOW | c.3564G>A | p.Thr1188Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/35 | 4014/11559 | 3564/9060 | 1188/3019 | chr22 | 46464326 | ||
| chr22:46533775
|
G | A | 1 | a0013c0010 | 1 | HG02486.hp1 | synonymous_variant | LOW | c.3396C>T | p.Pro1132Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3846/11559 | 3396/9060 | 1132/3019 | chr22 | 46533775 | ||
| chr22:46533805
|
G | C | 2 | a0010c0069a0042c0061 | 2 | HG01496.hp2 HG02258.hp2 |
synonymous_variant | LOW | c.3366C>G | p.Gly1122Gly | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3816/11559 | 3366/9060 | 1122/3019 | chr22 | 46533805 | ||
| chr22:46534210
|
C | T | 11 | a0001c0002a0002c0016a0003c0015others(8): Show | 15 | HG00642.hp2 HG00741.hp1 HG01255.hp1 others(12): Show |
synonymous_variant | LOW | c.2961G>A | p.Val987Val | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 3411/11559 | 2961/9060 | 987/3019 | chr22 | 46534210 | ||
| chr22:46535155
|
G | A | 1 | a0042c0061 | 1 | HG01496.hp2 | synonymous_variant | LOW | c.2016C>T | p.Ser672Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2466/11559 | 2016/9060 | 672/3019 | chr22 | 46535155 | ||
| chr22:46535227
|
C | T | 1 | a0002c0012 | 1 | HG02630.hp2 | synonymous_variant | LOW | c.1944G>A | p.Glu648Glu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2394/11559 | 1944/9060 | 648/3019 | chr22 | 46535227 | ||
| chr22:46535350
|
C | T | 12 | a0039c0068a0040c0067a0041c0066others(9): Show | 12 | HG01496.hp2 HG02630.hp1 HG02647.hp2 others(9): Show |
synonymous_variant | LOW | c.1821G>A | p.Thr607Thr | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 2271/11559 | 1821/9060 | 607/3019 | chr22 | 46535350 | ||
| chr22:46535896
|
G | C | 66 | a0001c0001a0001c0002a0001c0004others(63): Show | 98 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(95): Show |
synonymous_variant | LOW | c.1275C>G | p.Leu425Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 1725/11559 | 1275/9060 | 425/3019 | chr22 | 46535896 | ||
| chr22:46535941
|
G | A | 54 | a0001c0001a0001c0002a0001c0004others(51): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(83): Show |
synonymous_variant | LOW | c.1230C>T | p.Ser410Ser | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 1680/11559 | 1230/9060 | 410/3019 | chr22 | 46535941 | ||
| chr22:46536763
|
G | A | 1 | a0010c0069 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.408C>T | p.Pro136Pro | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 858/11559 | 408/9060 | 136/3019 | chr22 | 46536763 | ||
| chr22:46536880
|
G | C | 1 | a0010c0069 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.291C>G | p.Ala97Ala | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 741/11559 | 291/9060 | 97/3019 | chr22 | 46536880 | ||
| chr22:46537110
|
G | A | 1 | a0050c0070 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.61C>T | p.Leu21Leu | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 511/11559 | 61/9060 | 21/3019 | chr22 | 46537110 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:46361421
|
T | C | 2 | a0031c0022t0004a0043c0058t0004 | 2 | HG02922.hp2 HG03195.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1802A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1802 | chr22 | 46361421 | |||||
| chr22:46361491
|
T | A | 1 | a0040c0067t0009 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1732A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1732 | chr22 | 46361491 | |||||
| chr22:46361818
|
A | T | 1 | a0001c0001t0012 | 1 | HG04228.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1405T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1405 | chr22 | 46361818 | |||||
| chr22:46361887
|
C | T | 1 | a0001c0001t0011 | 1 | HG02132.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1336G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1336 | chr22 | 46361887 | |||||
| chr22:46361922
|
G | A | 1 | a0019c0041t0010 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1301C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1301 | chr22 | 46361922 | |||||
| chr22:46362002
|
C | T | 1 | a0026c0038t0008 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1221G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 1221 | chr22 | 46362002 | |||||
| chr22:46362434
|
G | A | 1 | a0001c0001t0014 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*789C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 789 | chr22 | 46362434 | |||||
| chr22:46362436
|
C | A | 1 | a0004c0003t0015 | 1 | HG02735.hp2 | 3_prime_UTR_variant | MODIFIER | c.*787G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 787 | chr22 | 46362436 | |||||
| chr22:46362634
|
C | T | 1 | a0026c0038t0008 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*589G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 589 | chr22 | 46362634 | |||||
| chr22:46362676
|
G | T | 23 | a0002c0012t0003a0002c0016t0003a0002c0051t0003others(20): Show | 24 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*547C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 547 | chr22 | 46362676 | |||||
| chr22:46362838
|
G | A | 1 | a0001c0001t0016 | 1 | NA20752.hp1 | 3_prime_UTR_variant | MODIFIER | c.*385C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 385 | chr22 | 46362838 | |||||
| chr22:46362916
|
T | C | 6 | a0002c0012t0003a0002c0016t0003a0002c0051t0003others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*307A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 307 | chr22 | 46362916 | |||||
| chr22:46363187
|
CCTGATGG others(20): Show |
C | 6 | a0002c0012t0003a0002c0016t0003a0002c0051t0003others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*9_*35delTAATGAAAC others(18): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 9 | chr22 | 46363187 | |||||
| chr22:46537201
|
C | T | 1 | a0010c0069t0005 | 1 | HG02258.hp2 | 5_prime_UTR_variant | MODIFIER | c.-31G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 31 | chr22 | 46537201 | |||||
| chr22:46537322
|
C | T | 1 | a0010c0069t0005 | 1 | HG02258.hp2 | 5_prime_UTR_variant | MODIFIER | c.-152G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 152 | chr22 | 46537322 | |||||
| chr22:46537456
|
CGGCGGCT others(3): Show |
C | 1 | a0050c0070t0007 | 1 | NA19030.hp1 | 5_prime_UTR_variant | MODIFIER | c.-296_-287delTGGAGC others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 287 | chr22 | 46537456 | |||||
| chr22:46537485
|
C | T | 1 | a0029c0037t0006 | 1 | HG02615.hp1 | 5_prime_UTR_variant | MODIFIER | c.-315G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 315 | chr22 | 46537485 | |||||
| chr22:46537487
|
G | T | 1 | a0010c0069t0005 | 1 | HG02258.hp2 | 5_prime_UTR_variant | MODIFIER | c.-317C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 317 | chr22 | 46537487 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:46363742
|
T | C | 15 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(12): Show | 15 | HG00639.hp2 HG01261.hp2 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.9035+254A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363742 | ||||||
| chr22:46363777
|
G | A | 5 | a0008c0014t0002g0016a0008c0033t0002g0050a0010c0069t0005g0001others(2): Show | 5 | HG00639.hp2 HG01261.hp2 HG02258.hp2 others(2): Show |
intron_variant | MODIFIER | c.9035+219C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363777 | ||||||
| chr22:46363818
|
T | G | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.9035+178A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363818 | ||||||
| chr22:46363850
|
C | A | 1 | a0001c0028t0001g0079 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.9035+146G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363850 | ||||||
| chr22:46363851
|
C | A | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.9035+145G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363851 | ||||||
| chr22:46363863
|
C | T | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.9035+133G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 34/34 | chr22 | 46363863 | ||||||
| chr22:46364296
|
C | T | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.8780-45G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/34 | chr22 | 46364296 | ||||||
| chr22:46364497
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.8779+15C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/34 | chr22 | 46364497 | ||||||
| chr22:46364504
|
C | CCAGGCAC others(28): Show |
1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | splice_region_variant&intron_variant | LOW | c.8752_8779+7dupAGCA others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/34 | chr22 | 46364504 | ||||||
| chr22:46364751
|
C | T | 15 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(12): Show | 15 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.8555-15G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46364751 | ||||||
| chr22:46364767
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8555-31C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46364767 | ||||||
| chr22:46364768
|
C | T | 3 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068 | 3 | HG01106.hp1 HG06807.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.8555-32G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46364768 | ||||||
| chr22:46364806
|
G | C | 15 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(12): Show | 15 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.8555-70C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46364806 | ||||||
| chr22:46365026
|
G | A | 4 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(1): Show | 4 | HG01106.hp1 HG02818.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.8554+205C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365026 | ||||||
| chr22:46365078
|
C | T | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.8554+153G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365078 | ||||||
| chr22:46365096
|
A | C | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8554+135T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365096 | ||||||
| chr22:46365135
|
G | A | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8554+96C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365135 | ||||||
| chr22:46365158
|
C | T | 1 | a0036c0056t0001g0092 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.8554+73G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365158 | ||||||
| chr22:46365165
|
A | G | 5 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.8554+66T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 32/34 | chr22 | 46365165 | ||||||
| chr22:46365477
|
G | A | 3 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068 | 3 | HG01106.hp1 HG06807.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.8405-97C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/34 | chr22 | 46365477 | ||||||
| chr22:46365557
|
G | A | 2 | a0035c0057t0001g0093a0049c0062t0013g0100 | 2 | NA18906.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.8404+29C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/34 | chr22 | 46365557 | ||||||
| chr22:46365558
|
G | A | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.8404+28C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 31/34 | chr22 | 46365558 | ||||||
| chr22:46365770
|
G | GCCCCTAC others(12): Show |
1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.8301-100_8301-82du others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365770 | ||||||
| chr22:46365833
|
GA | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8301-145delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365833 | ||||||
| chr22:46365839
|
T | TGGTGGGG others(10): Show |
2 | a0001c0001t0001g0043a0001c0006t0001g0064 | 2 | HG02132.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.8301-167_8301-151d others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365839 | ||||||
| chr22:46365859
|
TG | T | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8301-171delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365859 | ||||||
| chr22:46365864
|
GGAAGGTG others(19): Show |
G | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8301-201_8301-176d others(28): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365864 | ||||||
| chr22:46365877
|
T | TGGAAAGG others(23): Show |
1 | a0001c0028t0001g0079 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.8301-218_8301-189d others(32): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365877 | ||||||
| chr22:46365891
|
G | C | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8301-202C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365891 | ||||||
| chr22:46365895
|
G | GAAGGTGG others(85): Show |
1 | a0025c0024t0001g0046 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.8301-207_8301-206i others(94): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365895 | ||||||
| chr22:46365903
|
T | G | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8301-214A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365903 | ||||||
| chr22:46365907
|
G | GGGAAAGG others(82): Show |
1 | a0002c0012t0003g0012 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.8301-219_8301-218i others(91): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365907 | ||||||
| chr22:46365925
|
G | GA | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8301-237dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365925 | ||||||
| chr22:46365925
|
GAAGGTGG others(24): Show |
G | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8301-267_8301-237d others(33): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365925 | ||||||
| chr22:46365947
|
GGGT | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8301-261_8301-259d others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365947 | ||||||
| chr22:46365956
|
A | AAAGGTGG others(21): Show |
1 | a0001c0004t0001g0057 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.8301-295_8301-268d others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365956 | ||||||
| chr22:46365956
|
A | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8301-267T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365956 | ||||||
| chr22:46365969
|
G | T | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8301-280C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365969 | ||||||
| chr22:46365985
|
A | AAGGTGGT others(20): Show |
1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8301-297_8301-296i others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365985 | ||||||
| chr22:46365996
|
G | A | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-307C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46365996 | ||||||
| chr22:46366009
|
G | A | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-320C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366009 | ||||||
| chr22:46366012
|
A | G | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-323T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366012 | ||||||
| chr22:46366018
|
C | G | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-329G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366018 | ||||||
| chr22:46366019
|
T | TG | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-331dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366019 | ||||||
| chr22:46366032
|
G | GGGGGGAA others(6): Show |
18 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(15): Show | 18 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.8301-344_8301-343i others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366032 | ||||||
| chr22:46366033
|
G | A | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8301-344C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366033 | ||||||
| chr22:46366044
|
T | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8300+342A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366044 | ||||||
| chr22:46366053
|
A | AAAGGTGG others(6): Show |
2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.8300+320_8300+332d others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366053 | ||||||
| chr22:46366053
|
A | AAAGGTGG others(32): Show |
3 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068 | 3 | HG01106.hp1 HG06807.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.8300+332_8300+333i others(41): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366053 | ||||||
| chr22:46366053
|
A | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8300+333T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366053 | ||||||
| chr22:46366074
|
AG | A | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+311delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366074 | ||||||
| chr22:46366075
|
G | T | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.8300+311C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366075 | ||||||
| chr22:46366085
|
C | T | 12 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(9): Show | 12 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.8300+301G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366085 | ||||||
| chr22:46366086
|
T | G | 12 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(9): Show | 12 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.8300+300A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366086 | ||||||
| chr22:46366088
|
C | A | 12 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(9): Show | 12 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.8300+298G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366088 | ||||||
| chr22:46366097
|
GGT | G | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+287_8300+288d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366097 | ||||||
| chr22:46366102
|
A | T | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+284T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366102 | ||||||
| chr22:46366104
|
T | C | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+282A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366104 | ||||||
| chr22:46366106
|
C | G | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+280G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366106 | ||||||
| chr22:46366113
|
G | GGTGCA | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8300+272_8300+273i others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366113 | ||||||
| chr22:46366146
|
G | C | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.8300+240C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366146 | ||||||
| chr22:46366195
|
A | AAGGGAAG others(13): Show |
1 | a0006c0026t0001g0048 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.8300+171_8300+190d others(22): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366195 | ||||||
| chr22:46366195
|
A | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(16): Show | 19 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.8300+191T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366195 | ||||||
| chr22:46366212
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.8300+174C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366212 | ||||||
| chr22:46366223
|
G | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.8300+163C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366223 | ||||||
| chr22:46366228
|
G | A | 5 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.8300+158C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366228 | ||||||
| chr22:46366229
|
G | GGGGAGGA others(2230): Show |
1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8300+156_8300+157i others(2239): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366229 | ||||||
| chr22:46366229
|
G | GTGGGAAG others(1019): Show |
1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.8300+156_8300+157i others(1028): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366229 | ||||||
| chr22:46366231
|
C | G | 2 | a0026c0038t0008g0026a0047c0063t0003g0099 | 2 | HG03471.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.8300+155G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366231 | ||||||
| chr22:46366232
|
A | G | 7 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(4): Show | 7 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.8300+154T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366232 | ||||||
| chr22:46366239
|
G | A | 2 | a0026c0038t0008g0026a0047c0063t0003g0099 | 2 | HG03471.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.8300+147C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366239 | ||||||
| chr22:46366239
|
G | GAAGGTGC others(2560): Show |
1 | a0003c0015t0001g0022 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.8300+146_8300+147i others(2569): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366239 | ||||||
| chr22:46366243
|
T | G | 23 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(20): Show | 23 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(20): Show |
intron_variant | MODIFIER | c.8300+143A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366243 | ||||||
| chr22:46366246
|
C | CAGGGCAG others(8555): Show |
1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8300+139_8300+140i others(8564): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366246 | ||||||
| chr22:46366247
|
G | C | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8300+139C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(3943): Show |
1 | a0019c0041t0010g0068 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(3952): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(3907): Show |
1 | a0003c0005t0002g0036 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(3916): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(2729): Show |
1 | a0003c0005t0002g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(2738): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(724): Show |
1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(733): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(195): Show |
1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(204): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(998): Show |
1 | a0013c0010t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(1007): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(4267): Show |
1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(4276): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(1577): Show |
1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(1586): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(1240): Show |
1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(1249): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(2678): Show |
1 | a0005c0019t0001g0024 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(2687): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(3571): Show |
1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(3580): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(3045): Show |
1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(3054): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(3170): Show |
1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(3179): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(4181): Show |
1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(4190): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(281): Show |
1 | a0048c0064t0001g0098 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(290): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(245): Show |
1 | a0002c0012t0003g0012 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(254): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(459): Show |
1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(468): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(406): Show |
1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.8300+138_8300+139i others(415): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366247
|
G | GGGGCAGG others(387): Show |
1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8300+138_8300+139i others(396): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366247 | ||||||
| chr22:46366249
|
GT | G | 2 | a0026c0038t0008g0026a0047c0063t0003g0099 | 2 | HG03471.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.8300+136delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366249 | ||||||
| chr22:46366250
|
T | G | 21 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(18): Show | 21 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.8300+136A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366250 | ||||||
| chr22:46366250
|
T | TGGAAAGA others(62): Show |
1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8300+135_8300+136i others(71): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366250 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(4132): Show |
1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(4141): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(3385): Show |
1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(3394): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(3389): Show |
1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(3398): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(134): Show |
1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(143): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(1069): Show |
1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(1078): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(79): Show |
2 | a0001c0001t0001g0051a0043c0058t0004g0096 | 2 | HG02922.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.8300+130_8300+131i others(88): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(96): Show |
1 | a0001c0001t0016g0069 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(105): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(666): Show |
1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(675): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(1040): Show |
1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(1049): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(3085): Show |
1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(3094): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(1103): Show |
1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(1112): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(737): Show |
1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(746): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(98): Show |
2 | a0001c0004t0001g0032a0021c0030t0001g0033 | 2 | HG01099.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.8300+130_8300+131i others(107): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(98): Show |
56 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(53): Show | 56 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.8300+130_8300+131i others(107): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(115): Show |
1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(124): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(868): Show |
1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(877): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(665): Show |
1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.8300+130_8300+131i others(674): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(835): Show |
1 | a0046c0065t0002g0101 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(844): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | AGAAAGGT others(1093): Show |
1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.8300+130_8300+131i others(1102): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366255
|
A | G | 24 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(21): Show | 24 | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.8300+131T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366255 | ||||||
| chr22:46366256
|
G | GAAAGGTG others(80): Show |
1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.8300+129_8300+130i others(89): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366256 | ||||||
| chr22:46366256
|
G | GAAAGGTG others(114): Show |
2 | a0008c0014t0002g0016a0033c0035t0002g0066 | 2 | HG01261.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.8300+129_8300+130i others(123): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366256 | ||||||
| chr22:46366317
|
T | G | 50 | a0001c0004t0001g0032a0001c0004t0001g0057a0001c0029t0001g0038others(47): Show | 50 | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.8300+69A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366317 | ||||||
| chr22:46366363
|
C | T | 1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.8300+23G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366363 | ||||||
| chr22:46366369
|
C | T | 7 | a0003c0005t0002g0036a0003c0005t0002g0065a0013c0010t0001g0007others(4): Show | 7 | HG01106.hp1 HG02145.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.8300+17G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | 46366369 | ||||||
| chr22:46366564
|
G | GC | 11 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(8): Show | 11 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.8206-85dupG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366564 | ||||||
| chr22:46366590
|
G | T | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.8206-110C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366590 | ||||||
| chr22:46366637
|
C | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8206-157G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366637 | ||||||
| chr22:46366707
|
G | A | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.8206-227C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366707 | ||||||
| chr22:46366750
|
C | G | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.8205+243G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366750 | ||||||
| chr22:46366773
|
T | C | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.8205+220A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366773 | ||||||
| chr22:46366821
|
G | A | 8 | a0023c0042t0002g0054a0027c0052t0001g0031a0029c0037t0006g0002others(5): Show | 8 | HG01496.hp2 HG02615.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.8205+172C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366821 | ||||||
| chr22:46366957
|
A | G | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.8205+36T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366957 | ||||||
| chr22:46366958
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8205+35C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366958 | ||||||
| chr22:46366966
|
T | A | 3 | a0018c0046t0001g0030a0028c0049t0001g0086a0031c0022t0004g0039 | 3 | HG02145.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.8205+27A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 29/34 | chr22 | 46366966 | ||||||
| chr22:46367196
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8080-78C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367196 | ||||||
| chr22:46367197
|
C | G | 10 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(7): Show | 10 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.8080-79G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367197 | ||||||
| chr22:46367212
|
G | A | 9 | a0023c0042t0002g0054a0027c0052t0001g0031a0029c0037t0006g0002others(6): Show | 9 | HG01496.hp2 HG02615.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.8080-94C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367212 | ||||||
| chr22:46367226
|
C | T | 2 | a0001c0001t0001g0078a0001c0004t0001g0057 | 2 | HG01515.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.8080-108G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367226 | ||||||
| chr22:46367232
|
C | T | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.8080-114G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367232 | ||||||
| chr22:46367336
|
G | A | 7 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(4): Show | 7 | HG01106.hp1 HG01496.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.8080-218C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367336 | ||||||
| chr22:46367508
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.8079+221C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367508 | ||||||
| chr22:46367550
|
A | G | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8079+179T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367550 | ||||||
| chr22:46367557
|
A | G | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.8079+172T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367557 | ||||||
| chr22:46367562
|
C | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.8079+167G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367562 | ||||||
| chr22:46367593
|
A | G | 28 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(25): Show | 28 | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.8079+136T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367593 | ||||||
| chr22:46367605
|
G | A | 9 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(6): Show | 9 | HG00642.hp2 HG00735.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.8079+124C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367605 | ||||||
| chr22:46367625
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.8079+104C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367625 | ||||||
| chr22:46367681
|
T | C | 10 | a0008c0014t0002g0016a0008c0033t0002g0050a0010c0069t0005g0001others(7): Show | 10 | HG00639.hp2 HG01261.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.8079+48A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 28/34 | chr22 | 46367681 | ||||||
| chr22:46367860
|
G | A | 3 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068 | 3 | HG01106.hp1 HG06807.hp2 NA20805.hp2 |
splice_region_variant&intron_variant | LOW | c.7953-5C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46367860 | ||||||
| chr22:46367912
|
C | T | 1 | a0003c0015t0001g0022 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.7953-57G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46367912 | ||||||
| chr22:46367913
|
T | C | 1 | a0003c0015t0001g0022 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.7953-58A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46367913 | ||||||
| chr22:46367924
|
A | G | 27 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(24): Show | 27 | HG00639.hp2 HG00642.hp2 HG01261.hp2 others(24): Show |
intron_variant | MODIFIER | c.7953-69T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46367924 | ||||||
| chr22:46367949
|
C | T | 8 | a0003c0005t0002g0036a0003c0005t0002g0065a0013c0010t0001g0007others(5): Show | 8 | HG01106.hp1 HG02145.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.7953-94G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46367949 | ||||||
| chr22:46368096
|
A | C | 9 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(6): Show | 9 | HG00642.hp2 HG02055.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.7953-241T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368096 | ||||||
| chr22:46368149
|
T | C | 15 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(12): Show | 15 | HG01496.hp2 HG02615.hp1 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.7953-294A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368149 | ||||||
| chr22:46368211
|
A | G | 25 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(22): Show | 25 | HG00639.hp2 HG00642.hp2 HG01261.hp2 others(22): Show |
intron_variant | MODIFIER | c.7953-356T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368211 | ||||||
| chr22:46368249
|
A | G | 14 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(11): Show | 14 | HG00639.hp2 HG00642.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.7953-394T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368249 | ||||||
| chr22:46368257
|
C | T | 9 | a0003c0015t0001g0022a0005c0019t0001g0024a0005c0048t0001g0080others(6): Show | 9 | HG00642.hp2 HG02055.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.7953-402G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368257 | ||||||
| chr22:46368276
|
C | A | 38 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(35): Show | 38 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.7953-421G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368276 | ||||||
| chr22:46368380
|
C | T | 8 | a0003c0005t0002g0036a0003c0005t0002g0065a0008c0014t0002g0016others(5): Show | 8 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.7953-525G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368380 | ||||||
| chr22:46368402
|
A | G | 31 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(28): Show | 31 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.7953-547T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368402 | ||||||
| chr22:46368421
|
A | G | 1 | a0001c0034t0001g0058 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.7953-566T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368421 | ||||||
| chr22:46368493
|
C | T | 12 | a0001c0029t0001g0038a0015c0045t0001g0062a0023c0042t0002g0054others(9): Show | 12 | HG01109.hp1 HG01496.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.7953-638G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368493 | ||||||
| chr22:46368625
|
CG | C | 27 | a0001c0029t0001g0038a0002c0012t0003g0012a0002c0016t0003g0025others(24): Show | 27 | HG00642.hp2 HG01109.hp1 HG01496.hp2 others(24): Show |
intron_variant | MODIFIER | c.7952+553delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368625 | ||||||
| chr22:46368652
|
C | T | 9 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(6): Show | 9 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.7952+527G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368652 | ||||||
| chr22:46368660
|
C | T | 3 | a0001c0029t0001g0038a0015c0045t0001g0062a0039c0068t0001g0102 | 3 | HG01109.hp1 HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7952+519G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368660 | ||||||
| chr22:46368681
|
G | A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7952+498C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368681 | ||||||
| chr22:46368787
|
G | C | 26 | a0001c0029t0001g0038a0002c0012t0003g0012a0002c0016t0003g0025others(23): Show | 26 | HG00642.hp2 HG01109.hp1 HG01496.hp2 others(23): Show |
intron_variant | MODIFIER | c.7952+392C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46368787 | ||||||
| chr22:46369128
|
G | A | 3 | a0008c0014t0002g0016a0008c0033t0002g0050a0033c0035t0002g0066 | 3 | HG00639.hp2 HG01261.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7952+51C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 27/34 | chr22 | 46369128 | ||||||
| chr22:46369284
|
G | GTCAGGTC others(6): Show |
103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.7873-27_7873-26ins others(13): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/34 | chr22 | 46369284 | ||||||
| chr22:46369394
|
C | T | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7873-136G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/34 | chr22 | 46369394 | ||||||
| chr22:46369583
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.7872+109G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/34 | chr22 | 46369583 | ||||||
| chr22:46369664
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.7872+28G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/34 | chr22 | 46369664 | ||||||
| chr22:46369680
|
C | T | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.7872+12G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 26/34 | chr22 | 46369680 | ||||||
| chr22:46369808
|
A | C | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | splice_region_variant&intron_variant | LOW | c.7760-4T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46369808 | ||||||
| chr22:46369816
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.7760-12C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46369816 | ||||||
| chr22:46369898
|
C | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7760-94G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46369898 | ||||||
| chr22:46369926
|
G | C | 18 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(15): Show | 18 | HG01106.hp1 HG01496.hp2 HG02615.hp1 others(15): Show |
intron_variant | MODIFIER | c.7760-122C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46369926 | ||||||
| chr22:46369981
|
G | A | 5 | a0008c0014t0002g0016a0008c0033t0002g0050a0010c0069t0005g0001others(2): Show | 5 | HG00639.hp2 HG01261.hp2 HG02258.hp2 others(2): Show |
intron_variant | MODIFIER | c.7760-177C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46369981 | ||||||
| chr22:46370060
|
G | A | 5 | a0011c0011t0002g0011a0013c0010t0001g0007a0020c0043t0001g0052others(2): Show | 5 | HG02258.hp1 HG02486.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.7760-256C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370060 | ||||||
| chr22:46370098
|
G | A | 9 | a0023c0042t0002g0054a0024c0021t0001g0061a0026c0038t0008g0026others(6): Show | 9 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.7760-294C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370098 | ||||||
| chr22:46370257
|
C | T | 8 | a0003c0015t0001g0022a0005c0019t0001g0024a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02055.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.7760-453G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370257 | ||||||
| chr22:46370421
|
CCA | C | 4 | a0008c0014t0002g0016a0008c0033t0002g0050a0010c0069t0005g0001others(1): Show | 4 | HG00639.hp2 HG02258.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.7760-619_7760-618d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370421 | ||||||
| chr22:46370432
|
C | T | 7 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(4): Show | 7 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.7760-628G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370432 | ||||||
| chr22:46370463
|
A | G | 1 | a0036c0056t0001g0092 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.7760-659T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370463 | ||||||
| chr22:46370527
|
A | C | 10 | a0023c0042t0002g0054a0024c0021t0001g0061a0026c0038t0008g0026others(7): Show | 10 | HG01496.hp2 HG02615.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.7760-723T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370527 | ||||||
| chr22:46370537
|
A | G | 10 | a0023c0042t0002g0054a0024c0021t0001g0061a0026c0038t0008g0026others(7): Show | 10 | HG01496.hp2 HG02615.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.7760-733T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370537 | ||||||
| chr22:46370699
|
G | C | 10 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG01106.hp1 HG01261.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.7760-895C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370699 | ||||||
| chr22:46370809
|
C | T | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7760-1005G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370809 | ||||||
| chr22:46370812
|
G | C | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.7760-1008C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46370812 | ||||||
| chr22:46371165
|
G | C | 6 | a0011c0011t0002g0011a0013c0010t0001g0007a0020c0043t0001g0052others(3): Show | 6 | HG02258.hp1 HG02486.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.7760-1361C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371165 | ||||||
| chr22:46371259
|
C | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.7760-1455G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371259 | ||||||
| chr22:46371286
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.7760-1482C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371286 | ||||||
| chr22:46371310
|
A | AG | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.7760-1507dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371310 | ||||||
| chr22:46371480
|
A | T | 33 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(30): Show | 33 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.7759+1403T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371480 | ||||||
| chr22:46371521
|
C | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7759+1362G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371521 | ||||||
| chr22:46371530
|
T | G | 2 | a0031c0022t0004g0039a0047c0063t0003g0099 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.7759+1353A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371530 | ||||||
| chr22:46371866
|
A | AATCC | 21 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(18): Show | 21 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(18): Show |
intron_variant | MODIFIER | c.7759+1013_7759+101 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371866 | ||||||
| chr22:46371887
|
ATCCACCC others(13): Show |
A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7759+976_7759+995d others(22): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371887 | ||||||
| chr22:46371944
|
G | T | 23 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(20): Show | 23 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(20): Show |
intron_variant | MODIFIER | c.7759+939C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371944 | ||||||
| chr22:46371970
|
T | A | 2 | a0015c0045t0001g0062a0035c0057t0001g0093 | 2 | HG01109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7759+913A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46371970 | ||||||
| chr22:46372217
|
T | C | 20 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(17): Show | 20 | HG00609.hp1 HG01106.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.7759+666A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372217 | ||||||
| chr22:46372272
|
A | C | 5 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(2): Show | 5 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.7759+611T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372272 | ||||||
| chr22:46372352
|
C | T | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7759+531G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372352 | ||||||
| chr22:46372390
|
TACCCATC others(21): Show |
T | 10 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG01106.hp1 HG01261.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.7759+465_7759+492d others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372390 | ||||||
| chr22:46372392
|
C | T | 22 | a0008c0033t0002g0050a0010c0069t0005g0001a0011c0011t0002g0011others(19): Show | 22 | HG00639.hp2 HG01109.hp1 HG01496.hp2 others(19): Show |
intron_variant | MODIFIER | c.7759+491G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372392 | ||||||
| chr22:46372397
|
CCACT | C | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7759+482_7759+485d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372397 | ||||||
| chr22:46372435
|
A | AC | 19 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(16): Show | 19 | HG01106.hp1 HG01261.hp2 HG01496.hp2 others(16): Show |
intron_variant | MODIFIER | c.7759+447dupG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372435 | ||||||
| chr22:46372702
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.7759+181G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372702 | ||||||
| chr22:46372736
|
G | A | 4 | a0008c0014t0002g0016a0008c0033t0002g0050a0010c0069t0005g0001others(1): Show | 4 | HG00639.hp2 HG02258.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.7759+147C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372736 | ||||||
| chr22:46372810
|
G | A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7759+73C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 25/34 | chr22 | 46372810 | ||||||
| chr22:46373108
|
T | C | 34 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(31): Show | 34 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.7585-51A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373108 | ||||||
| chr22:46373202
|
G | A | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-145C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373202 | ||||||
| chr22:46373389
|
A | AGGCAGCT others(30): Show |
1 | a0001c0002t0001g0015 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.7585-369_7585-333d others(39): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373389 | ||||||
| chr22:46373421
|
C | CGGGGGGG others(26): Show |
3 | a0001c0001t0001g0041a0001c0001t0016g0069a0050c0070t0007g0003 | 3 | NA18995.hp1 NA19030.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.7585-397_7585-365d others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373421 | ||||||
| chr22:46373448
|
C | T | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.7585-391G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373448 | ||||||
| chr22:46373449
|
G | A | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7585-392C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373449 | ||||||
| chr22:46373449
|
G | C | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.7585-392C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373449 | ||||||
| chr22:46373453
|
T | G | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.7585-396A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373453 | ||||||
| chr22:46373454
|
T | C | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.7585-397A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373454 | ||||||
| chr22:46373471
|
A | ACCCAGTG others(22): Show |
1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7585-415_7585-414i others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373471 | ||||||
| chr22:46373554
|
C | A | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7585-497G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373554 | ||||||
| chr22:46373630
|
G | C | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7585-573C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373630 | ||||||
| chr22:46373650
|
T | TGGGGAGA others(20): Show |
1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.7585-620_7585-594d others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373650 | ||||||
| chr22:46373650
|
T | TGGGGAGA others(92): Show |
1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7585-594_7585-593i others(101): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373650 | ||||||
| chr22:46373650
|
T | TGGGGAGA others(47): Show |
1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.7585-647_7585-594d others(56): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373650 | ||||||
| chr22:46373667
|
A | AGGGGGAG others(2): Show |
4 | a0002c0012t0003g0012a0002c0016t0003g0025a0003c0015t0001g0022others(1): Show | 4 | HG02615.hp2 HG02630.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.7585-619_7585-611d others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373667 | ||||||
| chr22:46373676
|
T | TGGGGGAG others(2): Show |
3 | a0010c0069t0005g0001a0041c0066t0002g0103a0043c0058t0004g0096 | 3 | HG02258.hp2 HG02922.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.7585-620_7585-619i others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373676 | ||||||
| chr22:46373676
|
T | TGGGGGAG others(20): Show |
1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7585-620_7585-619i others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373676 | ||||||
| chr22:46373676
|
T | TGGGGGAG others(56): Show |
1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.7585-620_7585-619i others(65): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373676 | ||||||
| chr22:46373676
|
T | TGGGGGAG others(11): Show |
1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7585-637_7585-620d others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373676 | ||||||
| chr22:46373676
|
TGGGGGAG others(11): Show |
T | 4 | a0015c0045t0001g0062a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | HG01109.hp1 HG02145.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.7585-637_7585-620d others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373676 | ||||||
| chr22:46373685
|
T | A | 6 | a0011c0011t0002g0011a0023c0042t0002g0054a0024c0021t0001g0061others(3): Show | 6 | HG01496.hp2 HG02258.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.7585-628A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373685 | ||||||
| chr22:46373694
|
A | T | 6 | a0011c0011t0002g0011a0023c0042t0002g0054a0024c0021t0001g0061others(3): Show | 6 | HG01496.hp2 HG02258.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.7585-637T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373694 | ||||||
| chr22:46373703
|
T | A | 5 | a0011c0011t0002g0011a0015c0045t0001g0062a0018c0046t0001g0030others(2): Show | 5 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.7585-646A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373703 | ||||||
| chr22:46373716
|
G | A | 5 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(2): Show | 5 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.7585-659C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373716 | ||||||
| chr22:46373718
|
A | C | 5 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(2): Show | 5 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.7585-661T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373718 | ||||||
| chr22:46373719
|
G | A | 5 | a0023c0042t0002g0054a0024c0021t0001g0061a0029c0037t0006g0002others(2): Show | 5 | HG01496.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.7585-662C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373719 | ||||||
| chr22:46373719
|
G | GAAGGGGG others(56): Show |
1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.7585-663_7585-662i others(65): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373719 | ||||||
| chr22:46373719
|
G | GATGGGAG others(11): Show |
1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7585-680_7585-663d others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373719 | ||||||
| chr22:46373722
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.7585-665C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373722 | ||||||
| chr22:46373725
|
A | G | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-668T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373725 | ||||||
| chr22:46373727
|
C | A | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-670G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373727 | ||||||
| chr22:46373728
|
A | G | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-671T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373728 | ||||||
| chr22:46373740
|
A | G | 11 | a0013c0010t0001g0007a0020c0043t0001g0052a0023c0042t0002g0054others(8): Show | 11 | HG01496.hp2 HG02486.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.7585-683T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373740 | ||||||
| chr22:46373826
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.7585-769T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373826 | ||||||
| chr22:46373830
|
G | A | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7585-773C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373830 | ||||||
| chr22:46373835
|
C | T | 2 | a0010c0069t0005g0001a0043c0058t0004g0096 | 2 | HG02258.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.7585-778G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373835 | ||||||
| chr22:46373844
|
G | A | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.7585-787C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373844 | ||||||
| chr22:46373885
|
G | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7585-828C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373885 | ||||||
| chr22:46373975
|
A | C | 10 | a0018c0046t0001g0030a0023c0042t0002g0054a0024c0021t0001g0061others(7): Show | 10 | HG01496.hp2 HG02145.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.7585-918T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46373975 | ||||||
| chr22:46374049
|
C | T | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-992G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374049 | ||||||
| chr22:46374123
|
CT | C | 2 | a0002c0051t0003g0053a0050c0070t0007g0003 | 2 | HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.7585-1067delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374123 | ||||||
| chr22:46374171
|
G | A | 1 | a0030c0036t0001g0076 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.7585-1114C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374171 | ||||||
| chr22:46374277
|
G | A | 34 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(31): Show | 34 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.7585-1220C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374277 | ||||||
| chr22:46374478
|
T | C | 2 | a0018c0046t0001g0030a0028c0049t0001g0086 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7585-1421A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374478 | ||||||
| chr22:46374495
|
A | C | 2 | a0015c0045t0001g0062a0035c0057t0001g0093 | 2 | HG01109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7585-1438T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374495 | ||||||
| chr22:46374650
|
G | A | 2 | a0011c0011t0002g0011a0031c0022t0004g0039 | 2 | HG02258.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.7585-1593C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374650 | ||||||
| chr22:46374745
|
TCCGCACA others(117): Show |
T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.7585-1812_7585-168 others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374745 | ||||||
| chr22:46374820
|
C | T | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7585-1763G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374820 | ||||||
| chr22:46374823
|
A | G | 40 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(37): Show | 40 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(37): Show |
intron_variant | MODIFIER | c.7585-1766T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374823 | ||||||
| chr22:46374859
|
C | T | 1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.7585-1802G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374859 | ||||||
| chr22:46374861
|
A | G | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.7585-1804T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374861 | ||||||
| chr22:46374922
|
G | A | 4 | a0015c0045t0001g0062a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | HG01109.hp1 HG02145.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.7585-1865C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46374922 | ||||||
| chr22:46375016
|
G | A | 2 | a0001c0029t0001g0038a0039c0068t0001g0102 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7585-1959C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375016 | ||||||
| chr22:46375266
|
C | A | 1 | a0001c0002t0001g0019 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.7584+1795G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375266 | ||||||
| chr22:46375373
|
C | T | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.7584+1688G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375373 | ||||||
| chr22:46375391
|
G | A | 1 | a0001c0044t0001g0027 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.7584+1670C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375391 | ||||||
| chr22:46375433
|
G | A | 2 | a0001c0001t0001g0051a0004c0003t0001g0008 | 2 | HG03710.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.7584+1628C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375433 | ||||||
| chr22:46375468
|
C | A | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.7584+1593G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375468 | ||||||
| chr22:46375516
|
C | T | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7584+1545G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375516 | ||||||
| chr22:46375539
|
C | CT | 5 | a0001c0001t0001g0078a0003c0005t0002g0065a0009c0054t0001g0089others(2): Show | 5 | HG01106.hp1 HG01106.hp2 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.7584+1521dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375539 | ||||||
| chr22:46375539
|
CT | C | 10 | a0001c0001t0001g0045a0001c0001t0001g0074a0001c0002t0001g0013others(7): Show | 10 | HG00639.hp1 HG00639.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.7584+1521delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375539 | ||||||
| chr22:46375745
|
T | C | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7584+1316A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375745 | ||||||
| chr22:46375780
|
A | C | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7584+1281T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46375780 | ||||||
| chr22:46376024
|
T | C | 44 | a0001c0029t0001g0038a0002c0012t0003g0012a0002c0016t0003g0025others(41): Show | 44 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.7584+1037A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376024 | ||||||
| chr22:46376025
|
G | A | 24 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(21): Show | 24 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.7584+1036C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376025 | ||||||
| chr22:46376555
|
A | G | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.7584+506T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376555 | ||||||
| chr22:46376769
|
C | T | 29 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(26): Show | 29 | HG00609.hp1 HG00639.hp2 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.7584+292G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376769 | ||||||
| chr22:46376798
|
A | G | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.7584+263T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376798 | ||||||
| chr22:46376803
|
C | CA | 18 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(15): Show | 18 | HG00609.hp1 HG01109.hp1 HG01496.hp2 others(15): Show |
intron_variant | MODIFIER | c.7584+257dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376803 | ||||||
| chr22:46376803
|
C | CAA | 6 | a0003c0005t0002g0036a0003c0005t0002g0065a0026c0038t0008g0026others(3): Show | 6 | HG01106.hp1 HG01261.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.7584+256_7584+257d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376803 | ||||||
| chr22:46376855
|
G | C | 2 | a0010c0069t0005g0001a0043c0058t0004g0096 | 2 | HG02258.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.7584+206C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376855 | ||||||
| chr22:46376967
|
G | C | 1 | a0025c0024t0001g0046 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.7584+94C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | 46376967 | ||||||
| chr22:46377494
|
G | A | 7 | a0004c0003t0001g0009a0023c0042t0002g0054a0024c0021t0001g0061others(4): Show | 7 | HG00609.hp1 HG01496.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.7384-233C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377494 | ||||||
| chr22:46377499
|
C | T | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.7384-238G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377499 | ||||||
| chr22:46377554
|
G | A | 2 | a0015c0045t0001g0062a0035c0057t0001g0093 | 2 | HG01109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7384-293C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377554 | ||||||
| chr22:46377589
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7384-328G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377589 | ||||||
| chr22:46377695
|
C | G | 11 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(8): Show | 11 | HG01106.hp1 HG01261.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.7384-434G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377695 | ||||||
| chr22:46377727
|
A | G | 2 | a0015c0045t0001g0062a0035c0057t0001g0093 | 2 | HG01109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7384-466T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377727 | ||||||
| chr22:46377762
|
T | G | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.7384-501A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377762 | ||||||
| chr22:46377807
|
G | A | 9 | a0010c0069t0005g0001a0015c0045t0001g0062a0018c0046t0001g0030others(6): Show | 9 | HG01109.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.7384-546C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377807 | ||||||
| chr22:46377851
|
G | A | 5 | a0001c0001t0001g0037a0001c0001t0001g0067a0001c0025t0001g0070others(2): Show | 5 | HG01099.hp2 HG01109.hp2 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.7384-590C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46377851 | ||||||
| chr22:46378072
|
A | AG | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.7383+518dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46378072 | ||||||
| chr22:46378279
|
C | T | 3 | a0001c0001t0001g0056a0001c0001t0001g0077a0001c0001t0012g0034 | 3 | HG04228.hp1 NA18995.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.7383+312G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46378279 | ||||||
| chr22:46378420
|
T | C | 23 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(20): Show | 23 | HG00609.hp1 HG01106.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.7383+171A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46378420 | ||||||
| chr22:46378549
|
C | G | 24 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(21): Show | 24 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.7383+42G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46378549 | ||||||
| chr22:46378550
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.7383+41C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 23/34 | chr22 | 46378550 | ||||||
| chr22:46378722
|
G | A | 2 | a0002c0012t0003g0012a0002c0016t0003g0025 | 2 | HG02615.hp2 HG02630.hp2 |
splice_region_variant&intron_variant | LOW | c.7257-5C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46378722 | ||||||
| chr22:46378776
|
T | C | 11 | a0008c0014t0002g0016a0008c0033t0002g0050a0011c0011t0002g0011others(8): Show | 11 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.7257-59A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46378776 | ||||||
| chr22:46378961
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7257-244C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46378961 | ||||||
| chr22:46379091
|
C | T | 3 | a0015c0045t0001g0062a0035c0057t0001g0093a0043c0058t0004g0096 | 3 | HG01109.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.7257-374G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379091 | ||||||
| chr22:46379094
|
T | C | 23 | a0007c0013t0001g0023a0007c0023t0001g0042a0008c0014t0002g0016others(20): Show | 23 | HG00639.hp2 HG00642.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.7257-377A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379094 | ||||||
| chr22:46379132
|
C | T | 5 | a0015c0045t0001g0062a0026c0038t0008g0026a0035c0057t0001g0093others(2): Show | 5 | HG01109.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.7257-415G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379132 | ||||||
| chr22:46379159
|
G | A | 1 | a0025c0024t0001g0046 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.7257-442C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379159 | ||||||
| chr22:46379162
|
C | T | 6 | a0010c0069t0005g0001a0015c0045t0001g0062a0026c0038t0008g0026others(3): Show | 6 | HG01109.hp1 HG02258.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.7257-445G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379162 | ||||||
| chr22:46379228
|
C | G | 5 | a0015c0045t0001g0062a0026c0038t0008g0026a0035c0057t0001g0093others(2): Show | 5 | HG01109.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.7257-511G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379228 | ||||||
| chr22:46379298
|
T | C | 99 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(96): Show |
intron_variant | MODIFIER | c.7257-581A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379298 | ||||||
| chr22:46379370
|
CCTTA | C | 5 | a0015c0045t0001g0062a0026c0038t0008g0026a0035c0057t0001g0093others(2): Show | 5 | HG01109.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.7257-657_7257-654d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379370 | ||||||
| chr22:46379624
|
A | G | 1 | a0001c0004t0001g0032 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.7257-907T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379624 | ||||||
| chr22:46379681
|
G | A | 1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.7257-964C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379681 | ||||||
| chr22:46379695
|
C | T | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7257-978G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379695 | ||||||
| chr22:46379696
|
A | G | 36 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(33): Show | 36 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.7257-979T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379696 | ||||||
| chr22:46379737
|
A | C | 2 | a0013c0010t0001g0007a0020c0043t0001g0052 | 2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.7257-1020T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379737 | ||||||
| chr22:46379864
|
A | G | 4 | a0013c0010t0001g0007a0018c0046t0001g0030a0020c0043t0001g0052others(1): Show | 4 | HG02145.hp1 HG02486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.7256+924T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46379864 | ||||||
| chr22:46380008
|
C | T | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7256+780G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380008 | ||||||
| chr22:46380085
|
G | A | 6 | a0010c0069t0005g0001a0015c0045t0001g0062a0026c0038t0008g0026others(3): Show | 6 | HG01109.hp1 HG02258.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.7256+703C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380085 | ||||||
| chr22:46380140
|
G | A | 11 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(8): Show | 11 | HG01106.hp1 HG01261.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.7256+648C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380140 | ||||||
| chr22:46380147
|
A | T | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7256+641T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380147 | ||||||
| chr22:46380169
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7256+619C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380169 | ||||||
| chr22:46380188
|
G | A | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7256+600C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380188 | ||||||
| chr22:46380339
|
A | G | 30 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(27): Show | 30 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.7256+449T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380339 | ||||||
| chr22:46380347
|
T | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.7256+441A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380347 | ||||||
| chr22:46380420
|
C | T | 3 | a0015c0045t0001g0062a0035c0057t0001g0093a0043c0058t0004g0096 | 3 | HG01109.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.7256+368G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380420 | ||||||
| chr22:46380528
|
G | A | 5 | a0015c0045t0001g0062a0026c0038t0008g0026a0035c0057t0001g0093others(2): Show | 5 | HG01109.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.7256+260C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380528 | ||||||
| chr22:46380552
|
C | G | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7256+236G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380552 | ||||||
| chr22:46380624
|
C | G | 7 | a0011c0011t0002g0011a0013c0010t0001g0007a0018c0046t0001g0030others(4): Show | 7 | HG02145.hp1 HG02258.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.7256+164G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 22/34 | chr22 | 46380624 | ||||||
| chr22:46381015
|
C | T | 1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.7089-60G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381015 | ||||||
| chr22:46381077
|
C | T | 1 | a0001c0001t0001g0063 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.7089-122G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381077 | ||||||
| chr22:46381078
|
G | A | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7089-123C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381078 | ||||||
| chr22:46381093
|
C | A | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7089-138G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381093 | ||||||
| chr22:46381196
|
A | C | 5 | a0015c0045t0001g0062a0026c0038t0008g0026a0035c0057t0001g0093others(2): Show | 5 | HG01109.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.7089-241T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381196 | ||||||
| chr22:46381270
|
A | C | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7089-315T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381270 | ||||||
| chr22:46381390
|
A | G | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7089-435T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381390 | ||||||
| chr22:46381399
|
G | A | 2 | a0015c0045t0001g0062a0035c0057t0001g0093 | 2 | HG01109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7089-444C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381399 | ||||||
| chr22:46381516
|
T | C | 28 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(25): Show | 28 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.7088+330A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381516 | ||||||
| chr22:46381605
|
C | G | 24 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(21): Show | 24 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.7088+241G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381605 | ||||||
| chr22:46381812
|
G | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.7088+34C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381812 | ||||||
| chr22:46381822
|
G | A | 6 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(3): Show | 6 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.7088+24C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 21/34 | chr22 | 46381822 | ||||||
| chr22:46382426
|
C | T | 26 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(23): Show | 26 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.6884-376G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382426 | ||||||
| chr22:46382558
|
G | C | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6884-508C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382558 | ||||||
| chr22:46382567
|
C | T | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.6884-517G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382567 | ||||||
| chr22:46382600
|
T | C | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.6884-550A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382600 | ||||||
| chr22:46382669
|
G | T | 9 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(6): Show | 9 | HG01106.hp1 HG01261.hp2 HG03195.hp2 others(6): Show |
intron_variant | MODIFIER | c.6884-619C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382669 | ||||||
| chr22:46382672
|
T | C | 6 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(3): Show | 6 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(3): Show |
intron_variant | MODIFIER | c.6884-622A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382672 | ||||||
| chr22:46382715
|
C | T | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6884-665G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382715 | ||||||
| chr22:46382746
|
G | A | 21 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(18): Show | 21 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.6884-696C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382746 | ||||||
| chr22:46382766
|
G | A | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.6884-716C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382766 | ||||||
| chr22:46382812
|
C | T | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6884-762G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382812 | ||||||
| chr22:46382832
|
A | G | 2 | a0002c0051t0003g0053a0050c0070t0007g0003 | 2 | HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6884-782T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382832 | ||||||
| chr22:46382870
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6884-820C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382870 | ||||||
| chr22:46382951
|
G | C | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.6884-901C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46382951 | ||||||
| chr22:46383061
|
G | A | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.6884-1011C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383061 | ||||||
| chr22:46383232
|
AT | A | 7 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(4): Show | 7 | HG00642.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.6884-1183delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383232 | ||||||
| chr22:46383298
|
T | A | 2 | a0026c0038t0008g0026a0040c0067t0009g0104 | 2 | HG03579.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.6883+1245A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383298 | ||||||
| chr22:46383440
|
T | C | 6 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(3): Show | 6 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(3): Show |
intron_variant | MODIFIER | c.6883+1103A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383440 | ||||||
| chr22:46383540
|
C | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.6883+1003G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383540 | ||||||
| chr22:46383617
|
C | G | 1 | a0036c0056t0001g0092 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6883+926G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383617 | ||||||
| chr22:46383685
|
C | T | 7 | a0010c0069t0005g0001a0013c0010t0001g0007a0015c0045t0001g0062others(4): Show | 7 | HG01109.hp1 HG02258.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.6883+858G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383685 | ||||||
| chr22:46383997
|
A | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | NA18995.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.6883+546T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46383997 | ||||||
| chr22:46384042
|
C | G | 1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.6883+501G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46384042 | ||||||
| chr22:46384134
|
C | T | 2 | a0001c0001t0001g0037a0001c0025t0001g0070 | 2 | HG01109.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.6883+409G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46384134 | ||||||
| chr22:46384465
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6883+78G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46384465 | ||||||
| chr22:46384472
|
C | G | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6883+71G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46384472 | ||||||
| chr22:46384488
|
C | T | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.6883+55G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 20/34 | chr22 | 46384488 | ||||||
| chr22:46384724
|
G | A | 1 | a0001c0039t0001g0073 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.6740-38C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384724 | ||||||
| chr22:46384724
|
G | C | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.6740-38C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384724 | ||||||
| chr22:46384776
|
C | T | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.6740-90G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384776 | ||||||
| chr22:46384888
|
C | G | 4 | a0008c0014t0002g0016a0008c0033t0002g0050a0013c0010t0001g0007others(1): Show | 4 | HG00639.hp2 HG02486.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.6740-202G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384888 | ||||||
| chr22:46384895
|
TA | T | 36 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(33): Show | 36 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.6740-210delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384895 | ||||||
| chr22:46384945
|
C | T | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.6740-259G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384945 | ||||||
| chr22:46384948
|
G | A | 2 | a0026c0038t0008g0026a0040c0067t0009g0104 | 2 | HG03579.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.6740-262C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46384948 | ||||||
| chr22:46385043
|
C | T | 1 | a0013c0010t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6740-357G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385043 | ||||||
| chr22:46385054
|
A | G | 2 | a0001c0001t0001g0037a0001c0025t0001g0070 | 2 | HG01109.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.6740-368T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385054 | ||||||
| chr22:46385060
|
G | A | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.6740-374C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385060 | ||||||
| chr22:46385089
|
G | A | 8 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(5): Show | 8 | HG01106.hp1 HG01261.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.6740-403C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385089 | ||||||
| chr22:46385111
|
T | C | 13 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(10): Show | 13 | HG01106.hp1 HG01261.hp2 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.6740-425A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385111 | ||||||
| chr22:46385190
|
G | A | 14 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(11): Show | 14 | HG00642.hp2 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.6740-504C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385190 | ||||||
| chr22:46385255
|
G | A | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.6740-569C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385255 | ||||||
| chr22:46385302
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6740-616G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385302 | ||||||
| chr22:46385334
|
C | A | 5 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(2): Show | 5 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.6740-648G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385334 | ||||||
| chr22:46385427
|
A | G | 27 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(24): Show | 27 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.6740-741T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385427 | ||||||
| chr22:46385465
|
G | T | 28 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(25): Show | 28 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.6740-779C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385465 | ||||||
| chr22:46385534
|
C | A | 12 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(9): Show | 12 | HG00639.hp2 HG02258.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.6740-848G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385534 | ||||||
| chr22:46385544
|
C | A | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.6739+858G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385544 | ||||||
| chr22:46385601
|
G | A | 15 | a0003c0005t0002g0036a0003c0005t0002g0065a0015c0045t0001g0062others(12): Show | 15 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.6739+801C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385601 | ||||||
| chr22:46385659
|
G | A | 12 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(9): Show | 12 | HG00639.hp2 HG01109.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.6739+743C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385659 | ||||||
| chr22:46385669
|
C | T | 24 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(21): Show | 24 | HG00639.hp2 HG01109.hp1 HG02258.hp2 others(21): Show |
intron_variant | MODIFIER | c.6739+733G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385669 | ||||||
| chr22:46385674
|
ATT | A | 15 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(12): Show | 15 | HG00639.hp2 HG00642.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.6739+726_6739+727d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385674 | ||||||
| chr22:46385674
|
ATTT | A | 16 | a0003c0005t0002g0036a0003c0005t0002g0065a0010c0069t0005g0001others(13): Show | 16 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.6739+725_6739+727d others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385674 | ||||||
| chr22:46385674
|
ATTTT | A | 4 | a0013c0010t0001g0007a0029c0037t0006g0002a0040c0067t0009g0104others(1): Show | 4 | HG02486.hp1 HG02615.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+724_6739+727d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385674 | ||||||
| chr22:46385681
|
TTTTTTTT others(287): Show |
T | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.6739+427_6739+720d others(2): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385681 | ||||||
| chr22:46385708
|
G | C | 14 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(11): Show | 14 | HG00639.hp2 HG01109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.6739+694C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385708 | ||||||
| chr22:46385709
|
G | A | 14 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(11): Show | 14 | HG00639.hp2 HG01109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.6739+693C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385709 | ||||||
| chr22:46385714
|
C | G | 14 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(11): Show | 14 | HG00639.hp2 HG01109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.6739+688G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385714 | ||||||
| chr22:46385720
|
C | T | 12 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(9): Show | 12 | HG00639.hp2 HG01109.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.6739+682G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385720 | ||||||
| chr22:46385721
|
A | G | 12 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(9): Show | 12 | HG00639.hp2 HG01109.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.6739+681T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385721 | ||||||
| chr22:46385728
|
A | C | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6739+674T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385728 | ||||||
| chr22:46385740
|
T | C | 8 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(5): Show | 8 | HG00642.hp2 HG02145.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.6739+662A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385740 | ||||||
| chr22:46385764
|
G | A | 4 | a0010c0069t0005g0001a0026c0038t0008g0026a0032c0018t0002g0021others(1): Show | 4 | HG02258.hp2 HG02630.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+638C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385764 | ||||||
| chr22:46385778
|
C | T | 25 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(22): Show | 25 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(22): Show |
intron_variant | MODIFIER | c.6739+624G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385778 | ||||||
| chr22:46385826
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6739+576G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385826 | ||||||
| chr22:46385827
|
A | G | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6739+575T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385827 | ||||||
| chr22:46385867
|
C | T | 32 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(29): Show | 32 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.6739+535G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385867 | ||||||
| chr22:46385869
|
G | A | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.6739+533C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385869 | ||||||
| chr22:46385879
|
A | G | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6739+523T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385879 | ||||||
| chr22:46385898
|
T | C | 9 | a0010c0069t0005g0001a0011c0011t0002g0011a0015c0045t0001g0062others(6): Show | 9 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.6739+504A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385898 | ||||||
| chr22:46385899
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG03471.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.6739+503C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385899 | ||||||
| chr22:46385911
|
C | T | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0011c0011t0002g0011others(15): Show | 18 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.6739+491G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385911 | ||||||
| chr22:46385912
|
T | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6739+490A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385912 | ||||||
| chr22:46385920
|
G | A | 13 | a0003c0005t0002g0036a0003c0005t0002g0065a0011c0011t0002g0011others(10): Show | 13 | HG01106.hp1 HG01261.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.6739+482C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385920 | ||||||
| chr22:46385924
|
A | G | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6739+478T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385924 | ||||||
| chr22:46385928
|
T | C | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6739+474A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385928 | ||||||
| chr22:46385940
|
T | G | 2 | a0028c0049t0001g0086a0047c0063t0003g0099 | 2 | HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.6739+462A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385940 | ||||||
| chr22:46385962
|
C | A | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0027c0052t0001g0031others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+440G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385962 | ||||||
| chr22:46385969
|
G | A | 35 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(32): Show | 35 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.6739+433C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385969 | ||||||
| chr22:46385975
|
C | CT | 4 | a0001c0001t0001g0059a0001c0004t0001g0032a0001c0004t0001g0057others(1): Show | 4 | HG01099.hp1 HG01515.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.6739+426dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385975 | ||||||
| chr22:46385975
|
C | CTTTTTT | 11 | a0010c0069t0005g0001a0013c0010t0001g0007a0015c0045t0001g0062others(8): Show | 11 | HG01109.hp1 HG02258.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.6739+421_6739+426d others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385975 | ||||||
| chr22:46385975
|
C | CTTTTTTT | 18 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(15): Show | 18 | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.6739+420_6739+426d others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46385975 | ||||||
| chr22:46386019
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6739+383C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46386019 | ||||||
| chr22:46386032
|
C | T | 1 | a0003c0005t0002g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.6739+370G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46386032 | ||||||
| chr22:46386209
|
G | A | 11 | a0003c0005t0002g0036a0003c0005t0002g0065a0011c0011t0002g0011others(8): Show | 11 | HG01106.hp1 HG01261.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.6739+193C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46386209 | ||||||
| chr22:46386309
|
G | A | 20 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(17): Show | 20 | HG00639.hp2 HG01109.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.6739+93C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46386309 | ||||||
| chr22:46386352
|
A | G | 26 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(23): Show | 26 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(23): Show |
intron_variant | MODIFIER | c.6739+50T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | 46386352 | ||||||
| chr22:46386634
|
G | A | 1 | a0001c0002t0001g0015 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.6556-49C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386634 | ||||||
| chr22:46386705
|
C | T | 1 | a0001c0004t0001g0032 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6556-120G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386705 | ||||||
| chr22:46386732
|
GTTGTTTT others(7): Show |
G | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.6556-161_6556-148d others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386732 | ||||||
| chr22:46386746
|
T | G | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6556-161A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386746 | ||||||
| chr22:46386777
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6556-192G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386777 | ||||||
| chr22:46386784
|
G | A | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.6556-199C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386784 | ||||||
| chr22:46386822
|
C | T | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6556-237G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386822 | ||||||
| chr22:46386823
|
G | A | 2 | a0011c0011t0002g0011a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.6556-238C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386823 | ||||||
| chr22:46386840
|
G | A | 6 | a0007c0013t0001g0023a0007c0023t0001g0042a0015c0045t0001g0062others(3): Show | 6 | HG00642.hp2 HG01109.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-255C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386840 | ||||||
| chr22:46386894
|
C | T | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.6556-309G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386894 | ||||||
| chr22:46386947
|
G | A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6556-362C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386947 | ||||||
| chr22:46386952
|
T | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6556-367A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46386952 | ||||||
| chr22:46387048
|
A | G | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-463T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387048 | ||||||
| chr22:46387060
|
G | C | 1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.6556-475C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387060 | ||||||
| chr22:46387061
|
T | C | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6556-476A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387061 | ||||||
| chr22:46387102
|
A | G | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-517T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387102 | ||||||
| chr22:46387164
|
C | T | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-579G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387164 | ||||||
| chr22:46387196
|
C | T | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-611G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387196 | ||||||
| chr22:46387206
|
T | C | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-621A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387206 | ||||||
| chr22:46387267
|
T | C | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6556-682A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387267 | ||||||
| chr22:46387304
|
T | C | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.6556-719A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387304 | ||||||
| chr22:46387356
|
G | A | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6556-771C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387356 | ||||||
| chr22:46387369
|
TTTTG | T | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-788_6556-785d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387369 | ||||||
| chr22:46387444
|
A | G | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-859T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387444 | ||||||
| chr22:46387473
|
C | T | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-888G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387473 | ||||||
| chr22:46387491
|
G | A | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-906C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387491 | ||||||
| chr22:46387502
|
T | TCCCACGT others(17): Show |
6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6556-918_6556-917i others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387502 | ||||||
| chr22:46387518
|
A | G | 17 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(14): Show | 17 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.6556-933T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387518 | ||||||
| chr22:46387548
|
A | G | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6556-963T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387548 | ||||||
| chr22:46387725
|
T | A | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6556-1140A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387725 | ||||||
| chr22:46387788
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6556-1203G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387788 | ||||||
| chr22:46387826
|
C | T | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6556-1241G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387826 | ||||||
| chr22:46387830
|
G | A | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6556-1245C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387830 | ||||||
| chr22:46387859
|
T | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6556-1274A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387859 | ||||||
| chr22:46387944
|
T | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+1346A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46387944 | ||||||
| chr22:46388003
|
A | C | 11 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(8): Show | 11 | HG00639.hp2 HG02145.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.6555+1287T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388003 | ||||||
| chr22:46388003
|
A | T | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+1287T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388003 | ||||||
| chr22:46388069
|
C | T | 3 | a0015c0045t0001g0062a0020c0043t0001g0052a0035c0057t0001g0093 | 3 | HG01109.hp1 NA19030.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6555+1221G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388069 | ||||||
| chr22:46388079
|
T | G | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+1211A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388079 | ||||||
| chr22:46388205
|
C | T | 2 | a0011c0011t0002g0011a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.6555+1085G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388205 | ||||||
| chr22:46388217
|
C | T | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6555+1073G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388217 | ||||||
| chr22:46388218
|
G | A | 3 | a0015c0045t0001g0062a0020c0043t0001g0052a0035c0057t0001g0093 | 3 | HG01109.hp1 NA19030.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6555+1072C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388218 | ||||||
| chr22:46388242
|
G | C | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.6555+1048C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388242 | ||||||
| chr22:46388274
|
G | A | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+1016C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388274 | ||||||
| chr22:46388280
|
T | C | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.6555+1010A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388280 | ||||||
| chr22:46388303
|
C | T | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6555+987G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388303 | ||||||
| chr22:46388360
|
G | T | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.6555+930C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388360 | ||||||
| chr22:46388364
|
T | G | 3 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086 | 3 | HG02145.hp1 HG02258.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.6555+926A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388364 | ||||||
| chr22:46388382
|
A | G | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+908T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388382 | ||||||
| chr22:46388507
|
G | A | 2 | a0011c0011t0002g0011a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.6555+783C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388507 | ||||||
| chr22:46388545
|
G | A | 1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.6555+745C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388545 | ||||||
| chr22:46388555
|
G | A | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+735C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388555 | ||||||
| chr22:46388648
|
C | T | 26 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(23): Show | 26 | HG00639.hp2 HG00642.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.6555+642G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388648 | ||||||
| chr22:46388758
|
CAG | C | 4 | a0031c0022t0004g0039a0040c0067t0009g0104a0045c0059t0001g0094others(1): Show | 4 | HG02630.hp1 HG03195.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.6555+530_6555+531d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388758 | ||||||
| chr22:46388801
|
G | A | 10 | a0007c0013t0001g0023a0007c0023t0001g0042a0013c0010t0001g0007others(7): Show | 10 | HG00642.hp2 HG01109.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.6555+489C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388801 | ||||||
| chr22:46388853
|
A | G | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.6555+437T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388853 | ||||||
| chr22:46388913
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.6555+377G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46388913 | ||||||
| chr22:46389033
|
A | G | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+257T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389033 | ||||||
| chr22:46389063
|
G | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+227C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389063 | ||||||
| chr22:46389072
|
T | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+218A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389072 | ||||||
| chr22:46389113
|
C | T | 1 | a0001c0001t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.6555+177G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389113 | ||||||
| chr22:46389234
|
C | T | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.6555+56G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389234 | ||||||
| chr22:46389242
|
C | T | 3 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086 | 3 | HG02145.hp1 HG02258.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.6555+48G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389242 | ||||||
| chr22:46389248
|
TC | T | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+41delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389248 | ||||||
| chr22:46389272
|
T | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6555+18A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 18/34 | chr22 | 46389272 | ||||||
| chr22:46389520
|
T | C | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6346-21A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389520 | ||||||
| chr22:46389521
|
G | A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6346-22C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389521 | ||||||
| chr22:46389616
|
TA | T | 3 | a0040c0067t0009g0104a0045c0059t0001g0094a0047c0063t0003g0099 | 3 | HG02630.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.6346-118delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389616 | ||||||
| chr22:46389685
|
G | C | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.6346-186C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389685 | ||||||
| chr22:46389726
|
T | G | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6346-227A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389726 | ||||||
| chr22:46389743
|
C | T | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6346-244G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389743 | ||||||
| chr22:46389916
|
T | C | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6346-417A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46389916 | ||||||
| chr22:46390169
|
T | C | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6345+223A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390169 | ||||||
| chr22:46390176
|
G | A | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6345+216C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390176 | ||||||
| chr22:46390177
|
A | G | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6345+215T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390177 | ||||||
| chr22:46390191
|
G | T | 2 | a0006c0026t0001g0048a0016c0047t0001g0035 | 2 | HG01081.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.6345+201C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390191 | ||||||
| chr22:46390286
|
G | A | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.6345+106C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390286 | ||||||
| chr22:46390364
|
T | C | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.6345+28A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390364 | ||||||
| chr22:46390384
|
G | A | 1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | splice_region_variant&intron_variant | LOW | c.6345+8C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 17/34 | chr22 | 46390384 | ||||||
| chr22:46390911
|
C | A | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.6250+275G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 16/34 | chr22 | 46390911 | ||||||
| chr22:46390936
|
G | A | 2 | a0011c0011t0002g0011a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.6250+250C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 16/34 | chr22 | 46390936 | ||||||
| chr22:46390998
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6250+188C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 16/34 | chr22 | 46390998 | ||||||
| chr22:46391054
|
G | A | 4 | a0011c0011t0002g0011a0018c0046t0001g0030a0040c0067t0009g0104others(1): Show | 4 | HG02145.hp1 HG02258.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.6250+132C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 16/34 | chr22 | 46391054 | ||||||
| chr22:46391101
|
C | T | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.6250+85G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 16/34 | chr22 | 46391101 | ||||||
| chr22:46391537
|
C | T | 36 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(33): Show | 36 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.6148+96G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/34 | chr22 | 46391537 | ||||||
| chr22:46391566
|
C | T | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.6148+67G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 15/34 | chr22 | 46391566 | ||||||
| chr22:46391891
|
C | T | 5 | a0010c0069t0005g0001a0030c0036t0001g0076a0032c0018t0002g0021others(2): Show | 5 | HG02258.hp2 HG02647.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5965-75G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46391891 | ||||||
| chr22:46391935
|
A | G | 33 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(30): Show | 33 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.5965-119T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46391935 | ||||||
| chr22:46392009
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5965-193G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392009 | ||||||
| chr22:46392197
|
C | T | 6 | a0011c0011t0002g0011a0013c0010t0001g0007a0018c0046t0001g0030others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.5965-381G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392197 | ||||||
| chr22:46392198
|
A | G | 35 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(32): Show | 35 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.5965-382T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392198 | ||||||
| chr22:46392217
|
C | G | 2 | a0001c0001t0001g0071a0001c0044t0001g0027 | 2 | HG00609.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.5965-401G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392217 | ||||||
| chr22:46392224
|
G | C | 2 | a0045c0059t0001g0094a0047c0063t0003g0099 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.5965-408C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392224 | ||||||
| chr22:46392411
|
CTG | C | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5965-597_5965-596d others(4): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392411 | ||||||
| chr22:46392433
|
G | A | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.5965-617C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392433 | ||||||
| chr22:46392748
|
GAGTCTCA others(6): Show |
G | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.5965-945_5965-933d others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392748 | ||||||
| chr22:46392838
|
C | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.5965-1022G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392838 | ||||||
| chr22:46392860
|
A | G | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5965-1044T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392860 | ||||||
| chr22:46392883
|
C | T | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5965-1067G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392883 | ||||||
| chr22:46392884
|
G | A | 20 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(17): Show | 20 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.5965-1068C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46392884 | ||||||
| chr22:46393037
|
A | T | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5964+1105T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393037 | ||||||
| chr22:46393124
|
G | T | 8 | a0003c0005t0002g0036a0003c0005t0002g0065a0010c0069t0005g0001others(5): Show | 8 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.5964+1018C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393124 | ||||||
| chr22:46393126
|
C | G | 9 | a0007c0013t0001g0023a0007c0023t0001g0042a0013c0010t0001g0007others(6): Show | 9 | HG00642.hp2 HG02486.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.5964+1016G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393126 | ||||||
| chr22:46393303
|
G | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5964+839C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393303 | ||||||
| chr22:46393374
|
G | T | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5964+768C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393374 | ||||||
| chr22:46393383
|
C | T | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0027c0052t0001g0031others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5964+759G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393383 | ||||||
| chr22:46393512
|
C | T | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0027c0052t0001g0031others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5964+630G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393512 | ||||||
| chr22:46393567
|
G | A | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5964+575C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393567 | ||||||
| chr22:46393661
|
C | G | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0031c0022t0004g0039 | 3 | HG02486.hp1 HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.5964+481G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393661 | ||||||
| chr22:46393804
|
T | G | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5964+338A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393804 | ||||||
| chr22:46393812
|
C | G | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5964+330G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46393812 | ||||||
| chr22:46394110
|
A | G | 2 | a0040c0067t0009g0104a0041c0066t0002g0103 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5964+32T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46394110 | ||||||
| chr22:46394132
|
G | T | 35 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(32): Show | 35 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.5964+10C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | 46394132 | ||||||
| chr22:46394533
|
G | C | 3 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086 | 3 | HG02145.hp1 HG02258.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5844-271C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46394533 | ||||||
| chr22:46394551
|
C | T | 1 | a0001c0002t0001g0019 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.5844-289G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46394551 | ||||||
| chr22:46394695
|
T | C | 7 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0082others(4): Show | 7 | HG00642.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.5844-433A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46394695 | ||||||
| chr22:46394841
|
G | A | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5844-579C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46394841 | ||||||
| chr22:46395086
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5844-824G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395086 | ||||||
| chr22:46395184
|
GC | G | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(9): Show | 12 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.5844-923delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395184 | ||||||
| chr22:46395246
|
A | T | 10 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(7): Show | 10 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.5844-984T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395246 | ||||||
| chr22:46395335
|
TG | T | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.5844-1074delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395335 | ||||||
| chr22:46395392
|
T | C | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.5844-1130A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395392 | ||||||
| chr22:46395462
|
G | A | 10 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG02145.hp1 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.5843+1143C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395462 | ||||||
| chr22:46395533
|
G | T | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.5843+1072C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395533 | ||||||
| chr22:46395555
|
C | T | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.5843+1050G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395555 | ||||||
| chr22:46395709
|
C | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5843+896G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395709 | ||||||
| chr22:46395801
|
C | T | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5843+804G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395801 | ||||||
| chr22:46395987
|
C | T | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(16): Show | 19 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.5843+618G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46395987 | ||||||
| chr22:46396189
|
T | C | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5843+416A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46396189 | ||||||
| chr22:46396363
|
G | A | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5843+242C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46396363 | ||||||
| chr22:46396397
|
G | C | 2 | a0024c0021t0001g0061a0042c0061t0002g0097 | 2 | HG01496.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.5843+208C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46396397 | ||||||
| chr22:46396432
|
T | C | 2 | a0007c0013t0001g0023a0007c0023t0001g0042 | 2 | HG00642.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5843+173A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46396432 | ||||||
| chr22:46396470
|
T | TA | 6 | a0007c0013t0001g0023a0007c0023t0001g0042a0027c0052t0001g0031others(3): Show | 6 | HG00642.hp2 HG02818.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5843+134dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 13/34 | chr22 | 46396470 | ||||||
| chr22:46396792
|
C | A | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5702-46G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46396792 | ||||||
| chr22:46396912
|
G | C | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5702-166C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46396912 | ||||||
| chr22:46397009
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-263C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397009 | ||||||
| chr22:46397010
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-264C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397010 | ||||||
| chr22:46397011
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-265C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397011 | ||||||
| chr22:46397012
|
A | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-266T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397012 | ||||||
| chr22:46397013
|
AT | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-268delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397013 | ||||||
| chr22:46397017
|
C | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0026c0038t0008g0026others(2): Show | 5 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.5702-271G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397017 | ||||||
| chr22:46397061
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.5702-315G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397061 | ||||||
| chr22:46397251
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5701+423C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397251 | ||||||
| chr22:46397277
|
CT | C | 6 | a0001c0029t0001g0038a0005c0048t0001g0080a0017c0020t0002g0020others(3): Show | 6 | HG01496.hp2 HG02055.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.5701+396delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397277 | ||||||
| chr22:46397277
|
CTTT | C | 18 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(15): Show | 18 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.5701+394_5701+396d others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397277 | ||||||
| chr22:46397277
|
CTTTT | C | 14 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(11): Show | 14 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5701+393_5701+396d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397277 | ||||||
| chr22:46397417
|
G | A | 17 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(14): Show | 17 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.5701+257C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397417 | ||||||
| chr22:46397430
|
A | C | 22 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(19): Show | 22 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.5701+244T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397430 | ||||||
| chr22:46397460
|
G | T | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.5701+214C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397460 | ||||||
| chr22:46397531
|
G | A | 34 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(31): Show | 34 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(31): Show |
intron_variant | MODIFIER | c.5701+143C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397531 | ||||||
| chr22:46397582
|
G | A | 2 | a0008c0014t0002g0016a0008c0033t0002g0050 | 2 | HG00639.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5701+92C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 12/34 | chr22 | 46397582 | ||||||
| chr22:46397886
|
G | A | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5527-38C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/34 | chr22 | 46397886 | ||||||
| chr22:46398105
|
T | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5527-257A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/34 | chr22 | 46398105 | ||||||
| chr22:46398441
|
A | C | 9 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(6): Show | 9 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.5526+83T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/34 | chr22 | 46398441 | ||||||
| chr22:46398491
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5526+33C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 11/34 | chr22 | 46398491 | ||||||
| chr22:46398705
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5413-68C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46398705 | ||||||
| chr22:46398922
|
G | A | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.5413-285C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46398922 | ||||||
| chr22:46399244
|
C | A | 31 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(28): Show | 31 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.5412+473G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46399244 | ||||||
| chr22:46399572
|
C | G | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.5412+145G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46399572 | ||||||
| chr22:46399626
|
T | C | 38 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(35): Show | 38 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.5412+91A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46399626 | ||||||
| chr22:46399683
|
T | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5412+34A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 10/34 | chr22 | 46399683 | ||||||
| chr22:46400053
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5227-151C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400053 | ||||||
| chr22:46400098
|
G | A | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5227-196C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400098 | ||||||
| chr22:46400147
|
T | C | 4 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | HG02145.hp1 HG02258.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5227-245A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400147 | ||||||
| chr22:46400198
|
T | C | 38 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(35): Show | 38 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.5227-296A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400198 | ||||||
| chr22:46400283
|
C | T | 10 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00642.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.5227-381G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400283 | ||||||
| chr22:46400393
|
G | A | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5227-491C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400393 | ||||||
| chr22:46400539
|
A | C | 6 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(3): Show | 6 | HG02145.hp1 HG02258.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.5227-637T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400539 | ||||||
| chr22:46400606
|
A | C | 39 | a0001c0001t0011g0028a0001c0034t0001g0058a0002c0012t0003g0012others(36): Show | 39 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(36): Show |
intron_variant | MODIFIER | c.5227-704T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400606 | ||||||
| chr22:46400629
|
G | A | 3 | a0007c0013t0001g0023a0007c0023t0001g0042a0027c0052t0001g0031 | 3 | HG00642.hp2 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5227-727C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400629 | ||||||
| chr22:46400661
|
G | C | 4 | a0015c0045t0001g0062a0020c0043t0001g0052a0035c0057t0001g0093others(1): Show | 4 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.5227-759C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400661 | ||||||
| chr22:46400731
|
T | G | 2 | a0001c0029t0001g0038a0039c0068t0001g0102 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.5227-829A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400731 | ||||||
| chr22:46400951
|
C | CAA | 5 | a0010c0069t0005g0001a0013c0010t0001g0007a0029c0037t0006g0002others(2): Show | 5 | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.5227-1051_5227-105 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400951 | ||||||
| chr22:46400951
|
C | CAAA | 8 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(5): Show | 8 | HG01106.hp1 HG01261.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.5227-1052_5227-105 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46400951 | ||||||
| chr22:46401309
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5227-1407T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401309 | ||||||
| chr22:46401318
|
G | C | 9 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(6): Show | 9 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.5227-1416C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401318 | ||||||
| chr22:46401434
|
A | G | 40 | a0001c0001t0011g0028a0001c0002t0001g0014a0001c0034t0001g0058others(37): Show | 40 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(37): Show |
intron_variant | MODIFIER | c.5227-1532T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401434 | ||||||
| chr22:46401469
|
G | T | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5227-1567C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401469 | ||||||
| chr22:46401526
|
C | T | 1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.5227-1624G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401526 | ||||||
| chr22:46401606
|
G | A | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0010c0069t0005g0001others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.5227-1704C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401606 | ||||||
| chr22:46401709
|
G | T | 21 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(18): Show | 21 | HG00639.hp2 HG00642.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.5227-1807C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401709 | ||||||
| chr22:46401756
|
G | A | 4 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | HG02145.hp1 HG02258.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5227-1854C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401756 | ||||||
| chr22:46401923
|
CT | C | 12 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(9): Show | 12 | HG00642.hp2 HG01109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.5227-2022delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46401923 | ||||||
| chr22:46402290
|
C | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5227-2388G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46402290 | ||||||
| chr22:46402387
|
C | T | 15 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(12): Show | 15 | HG00642.hp2 HG01109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.5227-2485G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46402387 | ||||||
| chr22:46402728
|
T | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5227-2826A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46402728 | ||||||
| chr22:46402897
|
C | T | 9 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(6): Show | 9 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.5227-2995G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46402897 | ||||||
| chr22:46403376
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-3474C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403376 | ||||||
| chr22:46403392
|
C | CA | 7 | a0005c0019t0001g0024a0015c0045t0001g0062a0020c0043t0001g0052others(4): Show | 7 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.5227-3491dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403392 | ||||||
| chr22:46403392
|
CA | C | 22 | a0001c0001t0014g0060a0001c0002t0001g0019a0001c0034t0001g0058others(19): Show | 22 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.5227-3491delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403392 | ||||||
| chr22:46403392
|
CAA | C | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5227-3492_5227-349 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403392 | ||||||
| chr22:46403417
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.5227-3515G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403417 | ||||||
| chr22:46403421
|
G | C | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-3519C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403421 | ||||||
| chr22:46403506
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-3604C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403506 | ||||||
| chr22:46403523
|
C | T | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-3621G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403523 | ||||||
| chr22:46403771
|
G | A | 2 | a0040c0067t0009g0104a0041c0066t0002g0103 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5227-3869C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403771 | ||||||
| chr22:46403971
|
C | CA | 8 | a0001c0029t0001g0038a0010c0069t0005g0001a0015c0045t0001g0062others(5): Show | 8 | HG01109.hp1 HG02055.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.5227-4070dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403971 | ||||||
| chr22:46403983
|
A | G | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.5227-4081T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46403983 | ||||||
| chr22:46404009
|
A | C | 1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.5227-4107T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404009 | ||||||
| chr22:46404060
|
G | A | 2 | a0001c0001t0001g0082a0009c0053t0001g0090 | 2 | HG00642.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.5227-4158C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404060 | ||||||
| chr22:46404079
|
C | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-4177G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404079 | ||||||
| chr22:46404137
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5227-4235G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404137 | ||||||
| chr22:46404242
|
T | C | 9 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(6): Show | 9 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.5227-4340A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404242 | ||||||
| chr22:46404307
|
G | T | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5227-4405C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404307 | ||||||
| chr22:46404416
|
A | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5227-4514T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404416 | ||||||
| chr22:46404446
|
G | T | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0047c0063t0003g0099 | 3 | HG02486.hp1 HG02615.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.5227-4544C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404446 | ||||||
| chr22:46404466
|
G | C | 12 | a0003c0005t0002g0036a0003c0005t0002g0065a0010c0069t0005g0001others(9): Show | 12 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.5226+4530C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404466 | ||||||
| chr22:46404509
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5226+4487C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404509 | ||||||
| chr22:46404596
|
G | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.5226+4400C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404596 | ||||||
| chr22:46404618
|
G | A | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5226+4378C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404618 | ||||||
| chr22:46404867
|
C | T | 1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5226+4129G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404867 | ||||||
| chr22:46404871
|
C | G | 1 | a0001c0001t0001g0077 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.5226+4125G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404871 | ||||||
| chr22:46404884
|
G | A | 13 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(10): Show | 13 | HG00642.hp2 HG01109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.5226+4112C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404884 | ||||||
| chr22:46404900
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5226+4096G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404900 | ||||||
| chr22:46404948
|
C | T | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5226+4048G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46404948 | ||||||
| chr22:46405119
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5226+3877G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405119 | ||||||
| chr22:46405157
|
A | C | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5226+3839T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405157 | ||||||
| chr22:46405197
|
G | A | 14 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(11): Show | 14 | HG00642.hp2 HG01109.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.5226+3799C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405197 | ||||||
| chr22:46405332
|
G | C | 13 | a0007c0013t0001g0023a0007c0023t0001g0042a0011c0011t0002g0011others(10): Show | 13 | HG00642.hp2 HG01109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.5226+3664C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405332 | ||||||
| chr22:46405459
|
CA | C | 24 | a0001c0001t0001g0077a0001c0001t0011g0028a0001c0034t0001g0058others(21): Show | 24 | HG00639.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.5226+3536delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405459 | ||||||
| chr22:46405459
|
CAA | C | 5 | a0007c0013t0001g0023a0007c0023t0001g0042a0008c0014t0002g0016others(2): Show | 5 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.5226+3535_5226+353 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405459 | ||||||
| chr22:46405459
|
CAAAAA | C | 4 | a0011c0011t0002g0011a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | HG02145.hp1 HG02258.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5226+3532_5226+353 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405459 | ||||||
| chr22:46405459
|
CAAAAAA | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5226+3531_5226+353 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405459 | ||||||
| chr22:46405559
|
T | A | 1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.5226+3437A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405559 | ||||||
| chr22:46405676
|
A | G | 1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5226+3320T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405676 | ||||||
| chr22:46405700
|
G | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5226+3296C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405700 | ||||||
| chr22:46405719
|
G | C | 5 | a0010c0069t0005g0001a0026c0038t0008g0026a0028c0049t0001g0086others(2): Show | 5 | HG02258.hp2 HG02647.hp2 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.5226+3277C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405719 | ||||||
| chr22:46405901
|
G | A | 2 | a0040c0067t0009g0104a0041c0066t0002g0103 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5226+3095C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405901 | ||||||
| chr22:46405909
|
C | T | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5226+3087G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405909 | ||||||
| chr22:46405999
|
G | A | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5226+2997C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46405999 | ||||||
| chr22:46406467
|
G | A | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.5226+2529C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406467 | ||||||
| chr22:46406714
|
G | T | 9 | a0011c0011t0002g0011a0015c0045t0001g0062a0018c0046t0001g0030others(6): Show | 9 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.5226+2282C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406714 | ||||||
| chr22:46406791
|
C | A | 6 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5226+2205G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406791 | ||||||
| chr22:46406875
|
G | A | 2 | a0005c0019t0001g0024a0042c0061t0002g0097 | 2 | HG01496.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.5226+2121C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406875 | ||||||
| chr22:46406886
|
A | AG | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.5226+2109dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406886 | ||||||
| chr22:46406973
|
G | A | 2 | a0001c0031t0001g0047a0016c0047t0001g0035 | 2 | HG00099.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.5226+2023C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46406973 | ||||||
| chr22:46407004
|
G | A | 9 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(6): Show | 9 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.5226+1992C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407004 | ||||||
| chr22:46407010
|
G | A | 1 | a0046c0065t0002g0101 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5226+1986C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407010 | ||||||
| chr22:46407046
|
G | A | 1 | a0001c0006t0001g0064 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5226+1950C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407046 | ||||||
| chr22:46407428
|
G | A | 1 | a0001c0001t0001g0041 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.5226+1568C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407428 | ||||||
| chr22:46407477
|
G | A | 23 | a0003c0005t0002g0036a0003c0005t0002g0065a0010c0069t0005g0001others(20): Show | 23 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(20): Show |
intron_variant | MODIFIER | c.5226+1519C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407477 | ||||||
| chr22:46407572
|
C | A | 17 | a0003c0005t0002g0036a0003c0005t0002g0065a0007c0013t0001g0023others(14): Show | 17 | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.5226+1424G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407572 | ||||||
| chr22:46407877
|
A | T | 4 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(1): Show | 4 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5226+1119T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407877 | ||||||
| chr22:46407961
|
G | T | 2 | a0040c0067t0009g0104a0041c0066t0002g0103 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5226+1035C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46407961 | ||||||
| chr22:46408038
|
A | C | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5226+958T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408038 | ||||||
| chr22:46408063
|
TCAAA | T | 10 | a0011c0011t0002g0011a0015c0045t0001g0062a0018c0046t0001g0030others(7): Show | 10 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.5226+929_5226+932d others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408063 | ||||||
| chr22:46408073
|
T | C | 3 | a0018c0046t0001g0030a0028c0049t0001g0086a0031c0022t0004g0039 | 3 | HG02145.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.5226+923A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408073 | ||||||
| chr22:46408081
|
G | C | 10 | a0011c0011t0002g0011a0015c0045t0001g0062a0018c0046t0001g0030others(7): Show | 10 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.5226+915C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408081 | ||||||
| chr22:46408252
|
A | G | 2 | a0020c0043t0001g0052a0046c0065t0002g0101 | 2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5226+744T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408252 | ||||||
| chr22:46408257
|
G | A | 13 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(10): Show | 13 | HG01106.hp1 HG01261.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.5226+739C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408257 | ||||||
| chr22:46408587
|
C | T | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5226+409G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408587 | ||||||
| chr22:46408617
|
G | A | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5226+379C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408617 | ||||||
| chr22:46408622
|
A | G | 6 | a0001c0002t0001g0014a0001c0034t0001g0058a0006c0017t0001g0018others(3): Show | 6 | HG00639.hp2 HG01081.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.5226+374T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408622 | ||||||
| chr22:46408782
|
G | C | 1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5226+214C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408782 | ||||||
| chr22:46408835
|
G | A | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.5226+161C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408835 | ||||||
| chr22:46408965
|
A | C | 3 | a0018c0046t0001g0030a0028c0049t0001g0086a0031c0022t0004g0039 | 3 | HG02145.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.5226+31T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 9/34 | chr22 | 46408965 | ||||||
| chr22:46409226
|
C | T | 3 | a0018c0046t0001g0030a0028c0049t0001g0086a0031c0022t0004g0039 | 3 | HG02145.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.5060-64G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/34 | chr22 | 46409226 | ||||||
| chr22:46409456
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5060-294C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/34 | chr22 | 46409456 | ||||||
| chr22:46409584
|
G | A | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0013c0010t0001g0007others(2): Show | 5 | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.5059+171C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/34 | chr22 | 46409584 | ||||||
| chr22:46409745
|
G | A | 3 | a0018c0046t0001g0030a0028c0049t0001g0086a0031c0022t0004g0039 | 3 | HG02145.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.5059+10C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/34 | chr22 | 46409745 | ||||||
| chr22:46409746
|
G | A | 5 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.5059+9C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 8/34 | chr22 | 46409746 | ||||||
| chr22:46410055
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4934-175C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/34 | chr22 | 46410055 | ||||||
| chr22:46410075
|
C | T | 12 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(9): Show | 12 | HG00639.hp2 HG01496.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.4934-195G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/34 | chr22 | 46410075 | ||||||
| chr22:46410108
|
C | T | 8 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.4934-228G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/34 | chr22 | 46410108 | ||||||
| chr22:46410378
|
GC | G | 14 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(11): Show | 14 | HG00639.hp2 HG01496.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.4933+19delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 7/34 | chr22 | 46410378 | ||||||
| chr22:46410620
|
C | G | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0013c0010t0001g0007others(2): Show | 5 | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.4770-59G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46410620 | ||||||
| chr22:46410629
|
G | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4770-68C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46410629 | ||||||
| chr22:46411060
|
G | A | 10 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(7): Show | 10 | HG00639.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.4770-499C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411060 | ||||||
| chr22:46411208
|
C | T | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4769+394G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411208 | ||||||
| chr22:46411303
|
C | T | 14 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(11): Show | 14 | HG00639.hp2 HG01496.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.4769+299G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411303 | ||||||
| chr22:46411337
|
T | C | 24 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(21): Show | 24 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.4769+265A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411337 | ||||||
| chr22:46411361
|
G | A | 24 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(21): Show | 24 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.4769+241C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411361 | ||||||
| chr22:46411363
|
T | C | 24 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(21): Show | 24 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.4769+239A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411363 | ||||||
| chr22:46411380
|
G | C | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.4769+222C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411380 | ||||||
| chr22:46411497
|
G | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4769+105C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411497 | ||||||
| chr22:46411542
|
C | T | 9 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(6): Show | 9 | HG01106.hp1 HG01261.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.4769+60G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 6/34 | chr22 | 46411542 | ||||||
| chr22:46411801
|
A | G | 29 | a0003c0005t0002g0036a0003c0005t0002g0065a0003c0015t0001g0022others(26): Show | 29 | HG01106.hp1 HG01109.hp1 HG01261.hp2 others(26): Show |
intron_variant | MODIFIER | c.4612-42T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46411801 | ||||||
| chr22:46411838
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-79C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46411838 | ||||||
| chr22:46411893
|
C | T | 4 | a0013c0010t0001g0007a0029c0037t0006g0002a0043c0058t0004g0096others(1): Show | 4 | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-134G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46411893 | ||||||
| chr22:46412054
|
T | A | 12 | a0011c0011t0002g0011a0013c0010t0001g0007a0015c0045t0001g0062others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.4612-295A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412054 | ||||||
| chr22:46412122
|
C | T | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-363G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412122 | ||||||
| chr22:46412175
|
G | A | 32 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(29): Show | 32 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.4612-416C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412175 | ||||||
| chr22:46412382
|
G | A | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-623C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412382 | ||||||
| chr22:46412415
|
C | T | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-656G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412415 | ||||||
| chr22:46412419
|
A | G | 38 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(35): Show | 38 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.4612-660T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412419 | ||||||
| chr22:46412554
|
T | A | 2 | a0001c0002t0001g0019a0014c0055t0001g0091 | 2 | HG01255.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.4612-795A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412554 | ||||||
| chr22:46412677
|
C | T | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0047c0063t0003g0099 | 3 | HG02486.hp1 HG02615.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4612-918G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412677 | ||||||
| chr22:46412690
|
C | A | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0047c0063t0003g0099 | 3 | HG02486.hp1 HG02615.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4612-931G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412690 | ||||||
| chr22:46412809
|
C | T | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-1050G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412809 | ||||||
| chr22:46412879
|
G | T | 1 | a0001c0001t0001g0071 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4612-1120C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412879 | ||||||
| chr22:46412884
|
C | T | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-1125G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412884 | ||||||
| chr22:46412948
|
G | A | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-1189C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412948 | ||||||
| chr22:46412981
|
C | A | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-1222G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46412981 | ||||||
| chr22:46413036
|
C | T | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-1277G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413036 | ||||||
| chr22:46413100
|
C | T | 5 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0071others(2): Show | 5 | HG00609.hp2 HG02083.hp1 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-1341G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413100 | ||||||
| chr22:46413135
|
G | A | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-1376C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413135 | ||||||
| chr22:46413226
|
G | C | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-1467C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413226 | ||||||
| chr22:46413287
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-1528G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413287 | ||||||
| chr22:46413445
|
A | G | 8 | a0003c0015t0001g0022a0010c0069t0005g0001a0013c0010t0001g0007others(5): Show | 8 | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.4612-1686T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413445 | ||||||
| chr22:46413790
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-2031C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413790 | ||||||
| chr22:46413862
|
T | G | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2103A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413862 | ||||||
| chr22:46413905
|
T | G | 5 | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-2146A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413905 | ||||||
| chr22:46413924
|
A | G | 40 | a0001c0002t0001g0014a0001c0034t0001g0058a0002c0012t0003g0012others(37): Show | 40 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.4612-2165T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46413924 | ||||||
| chr22:46414069
|
G | C | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2310C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414069 | ||||||
| chr22:46414079
|
G | A | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2320C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414079 | ||||||
| chr22:46414118
|
G | A | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.4612-2359C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414118 | ||||||
| chr22:46414190
|
C | T | 4 | a0007c0013t0001g0023a0007c0023t0001g0042a0017c0020t0002g0020others(1): Show | 4 | HG00642.hp2 HG02818.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2431G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414190 | ||||||
| chr22:46414232
|
C | T | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-2473G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414232 | ||||||
| chr22:46414239
|
G | C | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2480C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414239 | ||||||
| chr22:46414252
|
A | G | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2493T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414252 | ||||||
| chr22:46414303
|
C | T | 2 | a0001c0025t0001g0070a0009c0054t0001g0089 | 2 | HG01109.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.4612-2544G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414303 | ||||||
| chr22:46414431
|
C | T | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2672G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414431 | ||||||
| chr22:46414495
|
G | GCCCGCCT others(43): Show |
33 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(30): Show | 33 | HG00639.hp2 HG00642.hp2 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.4612-2786_4612-273 others(54): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414495 | ||||||
| chr22:46414495
|
G | GCCCGCCT others(93): Show |
2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4612-2737_4612-273 others(104): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414495 | ||||||
| chr22:46414520
|
T | A | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2761A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414520 | ||||||
| chr22:46414524
|
G | A | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2765C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414524 | ||||||
| chr22:46414550
|
C | CCTCTCGG others(43): Show |
1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-2792_4612-279 others(54): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414550 | ||||||
| chr22:46414558
|
C | T | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2799G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414558 | ||||||
| chr22:46414561
|
G | C | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2802C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414561 | ||||||
| chr22:46414570
|
A | T | 3 | a0002c0012t0003g0012a0002c0016t0003g0025a0048c0064t0001g0098 | 3 | HG02615.hp2 HG02630.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4612-2811T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414570 | ||||||
| chr22:46414574
|
A | ACGCAGGC others(43): Show |
2 | a0001c0001t0001g0067a0001c0040t0001g0088 | 2 | HG02683.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.4612-2865_4612-281 others(54): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414574 | ||||||
| chr22:46414574
|
A | G | 8 | a0001c0002t0001g0014a0001c0034t0001g0058a0002c0012t0003g0012others(5): Show | 8 | HG00639.hp2 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4612-2815T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414574 | ||||||
| chr22:46414574
|
ACGCAGGC others(43): Show |
A | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2865_4612-281 others(54): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414574 | ||||||
| chr22:46414645
|
T | C | 5 | a0001c0002t0001g0014a0001c0034t0001g0058a0008c0014t0002g0016others(2): Show | 5 | HG00639.hp2 HG02630.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-2886A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414645 | ||||||
| chr22:46414648
|
A | G | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2889T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414648 | ||||||
| chr22:46414668
|
A | G | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-2909T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414668 | ||||||
| chr22:46414692
|
C | T | 3 | a0003c0015t0001g0022a0040c0067t0009g0104a0043c0058t0004g0096 | 3 | HG02922.hp2 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4612-2933G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414692 | ||||||
| chr22:46414714
|
C | T | 1 | a0003c0005t0002g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.4612-2955G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414714 | ||||||
| chr22:46414745
|
G | A | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-2986C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414745 | ||||||
| chr22:46414888
|
T | C | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0047c0063t0003g0099 | 3 | HG02486.hp1 HG02615.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4612-3129A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414888 | ||||||
| chr22:46414897
|
G | A | 1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4612-3138C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414897 | ||||||
| chr22:46414934
|
G | C | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG02258.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.4612-3175C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414934 | ||||||
| chr22:46414957
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4612-3198C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414957 | ||||||
| chr22:46414969
|
C | T | 8 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(5): Show | 8 | HG02258.hp2 HG02615.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.4612-3210G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46414969 | ||||||
| chr22:46415068
|
G | T | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4612-3309C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415068 | ||||||
| chr22:46415144
|
T | C | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-3385A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415144 | ||||||
| chr22:46415215
|
T | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-3456A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415215 | ||||||
| chr22:46415353
|
A | T | 20 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(17): Show | 20 | HG01109.hp1 HG02258.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.4612-3594T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415353 | ||||||
| chr22:46415369
|
C | T | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4612-3610G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415369 | ||||||
| chr22:46415376
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-3617G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415376 | ||||||
| chr22:46415410
|
G | A | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.4612-3651C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415410 | ||||||
| chr22:46415452
|
C | T | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-3693G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415452 | ||||||
| chr22:46415565
|
T | G | 12 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(9): Show | 12 | HG01109.hp1 HG02258.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4612-3806A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415565 | ||||||
| chr22:46415602
|
A | T | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0017c0020t0002g0020others(2): Show | 5 | HG02258.hp2 HG02818.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-3843T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415602 | ||||||
| chr22:46415626
|
TA | T | 5 | a0001c0001t0014g0060a0001c0002t0001g0013a0005c0019t0001g0024others(2): Show | 5 | HG01255.hp2 HG01496.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.4612-3868delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415626 | ||||||
| chr22:46415626
|
TAA | T | 6 | a0003c0015t0001g0022a0010c0069t0005g0001a0017c0020t0002g0020others(3): Show | 6 | HG02258.hp2 HG02818.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.4612-3869_4612-386 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415626 | ||||||
| chr22:46415627
|
A | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-3868T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415627 | ||||||
| chr22:46415629
|
A | T | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0017c0020t0002g0020others(2): Show | 5 | HG02258.hp2 HG02818.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-3870T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415629 | ||||||
| chr22:46415670
|
C | T | 4 | a0001c0034t0001g0058a0008c0014t0002g0016a0008c0033t0002g0050others(1): Show | 4 | HG00639.hp2 HG00735.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-3911G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415670 | ||||||
| chr22:46415862
|
A | G | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4612-4103T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415862 | ||||||
| chr22:46415968
|
G | A | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4612-4209C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415968 | ||||||
| chr22:46415987
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-4228G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46415987 | ||||||
| chr22:46416005
|
C | T | 5 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(2): Show | 5 | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.4612-4246G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416005 | ||||||
| chr22:46416019
|
C | T | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0017c0020t0002g0020others(2): Show | 5 | HG02258.hp2 HG02818.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-4260G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416019 | ||||||
| chr22:46416029
|
T | C | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-4270A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416029 | ||||||
| chr22:46416100
|
T | TTC | 13 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(10): Show | 13 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.4612-4342_4612-434 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416100 | ||||||
| chr22:46416100
|
T | TTCGC | 7 | a0002c0012t0003g0012a0002c0051t0003g0053a0003c0015t0001g0022others(4): Show | 7 | HG02258.hp2 HG02630.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.4612-4342_4612-434 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416100 | ||||||
| chr22:46416100
|
T | TTCGCG | 5 | a0002c0016t0003g0025a0023c0042t0002g0054a0024c0021t0001g0061others(2): Show | 5 | HG02615.hp2 HG02976.hp1 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-4342_4612-434 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416100 | ||||||
| chr22:46416100
|
T | TTCGCGG | 2 | a0005c0019t0001g0024a0042c0061t0002g0097 | 2 | HG01496.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.4612-4342_4612-434 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416100 | ||||||
| chr22:46416100
|
T | TTCGCGGG others(3): Show |
2 | a0008c0014t0002g0016a0033c0035t0002g0066 | 2 | HG01261.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-4342_4612-434 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416100 | ||||||
| chr22:46416102
|
C | G | 16 | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(13): Show | 16 | HG01261.hp2 HG01496.hp2 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-4343G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416102 | ||||||
| chr22:46416103
|
A | G | 30 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(27): Show | 30 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.4612-4344T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416103 | ||||||
| chr22:46416105
|
A | G | 29 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(26): Show | 29 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.4612-4346T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416105 | ||||||
| chr22:46416108
|
G | GGGGGGGG others(3): Show |
3 | a0003c0005t0002g0065a0026c0038t0008g0026a0031c0022t0004g0039 | 3 | HG01106.hp1 HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4612-4350_4612-434 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416108 | ||||||
| chr22:46416108
|
G | GGGGGGGG others(4): Show |
4 | a0003c0005t0002g0036a0019c0041t0010g0068a0037c0008t0001g0005others(1): Show | 4 | HG00735.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-4350_4612-434 others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416108 | ||||||
| chr22:46416108
|
G | GGGGGGGG others(5): Show |
1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4612-4350_4612-434 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416108 | ||||||
| chr22:46416108
|
G | GGGGGGGG others(6): Show |
1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4612-4350_4612-434 others(17): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416108 | ||||||
| chr22:46416205
|
G | A | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-4446C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416205 | ||||||
| chr22:46416238
|
A | G | 2 | a0011c0011t0002g0011a0041c0066t0002g0103 | 2 | HG02258.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4612-4479T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416238 | ||||||
| chr22:46416361
|
C | T | 1 | a0001c0001t0001g0072 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4612-4602G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416361 | ||||||
| chr22:46416380
|
C | G | 22 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(19): Show | 22 | HG00642.hp2 HG00735.hp2 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.4612-4621G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416380 | ||||||
| chr22:46416392
|
T | C | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-4633A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416392 | ||||||
| chr22:46416468
|
T | TC | 13 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(10): Show | 13 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.4612-4710dupG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416468 | ||||||
| chr22:46416530
|
G | A | 4 | a0015c0045t0001g0062a0020c0043t0001g0052a0035c0057t0001g0093others(1): Show | 4 | HG01109.hp1 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.4612-4771C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416530 | ||||||
| chr22:46416545
|
C | T | 2 | a0017c0020t0002g0020a0043c0058t0004g0096 | 2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4612-4786G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416545 | ||||||
| chr22:46416655
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4612-4896C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416655 | ||||||
| chr22:46416688
|
G | A | 29 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(26): Show | 29 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.4612-4929C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416688 | ||||||
| chr22:46416709
|
A | T | 39 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(36): Show | 39 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(36): Show |
intron_variant | MODIFIER | c.4612-4950T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416709 | ||||||
| chr22:46416731
|
C | T | 22 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(19): Show | 22 | HG00735.hp2 HG01109.hp1 HG01496.hp2 others(19): Show |
intron_variant | MODIFIER | c.4612-4972G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416731 | ||||||
| chr22:46416822
|
G | A | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0041c0066t0002g0103 | 3 | HG02486.hp1 HG02615.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4612-5063C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416822 | ||||||
| chr22:46416835
|
C | T | 20 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(17): Show | 20 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.4612-5076G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46416835 | ||||||
| chr22:46417046
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4612-5287C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417046 | ||||||
| chr22:46417215
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4612-5456A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417215 | ||||||
| chr22:46417237
|
G | A | 1 | a0001c0025t0001g0070 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4612-5478C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417237 | ||||||
| chr22:46417277
|
T | C | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4612-5518A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417277 | ||||||
| chr22:46417299
|
C | T | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4612-5540G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417299 | ||||||
| chr22:46417439
|
C | T | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-5680G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417439 | ||||||
| chr22:46417520
|
C | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4612-5761G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417520 | ||||||
| chr22:46417538
|
A | G | 38 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(35): Show | 38 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.4612-5779T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417538 | ||||||
| chr22:46417543
|
G | C | 18 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(15): Show | 18 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.4612-5784C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417543 | ||||||
| chr22:46417561
|
G | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-5802C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417561 | ||||||
| chr22:46417621
|
C | A | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4612-5862G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417621 | ||||||
| chr22:46417739
|
G | C | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-5980C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417739 | ||||||
| chr22:46417821
|
C | A | 16 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(13): Show | 16 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.4612-6062G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417821 | ||||||
| chr22:46417847
|
T | C | 1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4612-6088A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46417847 | ||||||
| chr22:46418199
|
G | A | 2 | a0001c0002t0001g0019a0014c0055t0001g0091 | 2 | HG01255.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.4612-6440C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418199 | ||||||
| chr22:46418207
|
G | A | 2 | a0001c0002t0001g0019a0014c0055t0001g0091 | 2 | HG01255.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.4612-6448C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418207 | ||||||
| chr22:46418221
|
C | T | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-6462G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418221 | ||||||
| chr22:46418291
|
G | A | 19 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(16): Show | 19 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(16): Show |
intron_variant | MODIFIER | c.4612-6532C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418291 | ||||||
| chr22:46418377
|
T | G | 1 | a0003c0015t0001g0022 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4612-6618A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418377 | ||||||
| chr22:46418411
|
G | C | 1 | a0001c0001t0001g0043 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.4612-6652C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418411 | ||||||
| chr22:46418486
|
GAATA | G | 18 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(15): Show | 18 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(15): Show |
intron_variant | MODIFIER | c.4612-6731_4612-672 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418486 | ||||||
| chr22:46418726
|
C | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-6967G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418726 | ||||||
| chr22:46418743
|
A | C | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4612-6984T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418743 | ||||||
| chr22:46418774
|
C | T | 41 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(38): Show | 41 | HG00735.hp2 HG01099.hp1 HG01106.hp1 others(38): Show |
intron_variant | MODIFIER | c.4612-7015G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418774 | ||||||
| chr22:46418842
|
G | A | 3 | a0013c0010t0001g0007a0029c0037t0006g0002a0038c0007t0001g0004 | 3 | HG01099.hp2 HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4612-7083C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418842 | ||||||
| chr22:46418895
|
G | C | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4612-7136C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418895 | ||||||
| chr22:46418932
|
G | A | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-7173C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418932 | ||||||
| chr22:46418959
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-7200C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46418959 | ||||||
| chr22:46419089
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4612-7330G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419089 | ||||||
| chr22:46419176
|
C | T | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-7417G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419176 | ||||||
| chr22:46419250
|
G | A | 3 | a0001c0001t0001g0072a0001c0002t0001g0019a0014c0055t0001g0091 | 3 | HG01255.hp1 HG02735.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.4612-7491C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419250 | ||||||
| chr22:46419323
|
G | A | 16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-7564C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419323 | ||||||
| chr22:46419675
|
A | AG | 22 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(19): Show | 22 | HG00735.hp2 HG01109.hp1 HG01496.hp2 others(19): Show |
intron_variant | MODIFIER | c.4612-7917_4612-791 others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419675 | ||||||
| chr22:46419916
|
C | A | 1 | a0048c0064t0001g0098 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4612-8157G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419916 | ||||||
| chr22:46419917
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-8158C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46419917 | ||||||
| chr22:46420026
|
T | C | 1 | a0001c0002t0001g0013 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4612-8267A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420026 | ||||||
| chr22:46420031
|
G | C | 20 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(17): Show | 20 | HG00735.hp2 HG01109.hp1 HG01496.hp2 others(17): Show |
intron_variant | MODIFIER | c.4612-8272C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420031 | ||||||
| chr22:46420073
|
TACTC | T | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4612-8318_4612-831 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420073 | ||||||
| chr22:46420110
|
T | C | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4612-8351A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420110 | ||||||
| chr22:46420155
|
C | T | 14 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(11): Show | 14 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.4612-8396G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420155 | ||||||
| chr22:46420200
|
A | G | 16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-8441T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420200 | ||||||
| chr22:46420290
|
ACT | A | 2 | a0018c0046t0001g0030a0031c0022t0004g0039 | 2 | HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4612-8533_4612-853 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420290 | ||||||
| chr22:46420301
|
CAT | C | 16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-8544_4612-854 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420301 | ||||||
| chr22:46420315
|
T | TGTGCACT others(1): Show |
16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-8557_4612-855 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420315 | ||||||
| chr22:46420316
|
A | G | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4612-8557T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420316 | ||||||
| chr22:46420475
|
C | T | 2 | a0017c0020t0002g0020a0043c0058t0004g0096 | 2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4612-8716G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420475 | ||||||
| chr22:46420622
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-8863T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420622 | ||||||
| chr22:46420624
|
ACACT | A | 8 | a0013c0010t0001g0007a0015c0045t0001g0062a0020c0043t0001g0052others(5): Show | 8 | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.4612-8869_4612-886 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420624 | ||||||
| chr22:46420637
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-8878T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420637 | ||||||
| chr22:46420683
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-8924G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420683 | ||||||
| chr22:46420690
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-8931T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420690 | ||||||
| chr22:46420729
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4612-8970G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420729 | ||||||
| chr22:46420890
|
G | A | 1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4612-9131C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420890 | ||||||
| chr22:46420961
|
C | G | 43 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(40): Show | 43 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(40): Show |
intron_variant | MODIFIER | c.4612-9202G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420961 | ||||||
| chr22:46420984
|
G | A | 16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-9225C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420984 | ||||||
| chr22:46420992
|
G | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4612-9233C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46420992 | ||||||
| chr22:46421210
|
G | GGT | 16 | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-9452_4612-945 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421210 | ||||||
| chr22:46421215
|
A | G | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4612-9456T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421215 | ||||||
| chr22:46421276
|
C | G | 10 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(7): Show | 10 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.4612-9517G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421276 | ||||||
| chr22:46421294
|
G | A | 16 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(13): Show | 16 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.4612-9535C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421294 | ||||||
| chr22:46421327
|
C | T | 2 | a0017c0020t0002g0020a0043c0058t0004g0096 | 2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4612-9568G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421327 | ||||||
| chr22:46421424
|
A | G | 9 | a0013c0010t0001g0007a0015c0045t0001g0062a0020c0043t0001g0052others(6): Show | 9 | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.4612-9665T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421424 | ||||||
| chr22:46421474
|
C | T | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4612-9715G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421474 | ||||||
| chr22:46421476
|
A | G | 25 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(22): Show | 25 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.4612-9717T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421476 | ||||||
| chr22:46421526
|
T | C | 27 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(24): Show | 27 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.4612-9767A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421526 | ||||||
| chr22:46421527
|
G | A | 9 | a0013c0010t0001g0007a0015c0045t0001g0062a0020c0043t0001g0052others(6): Show | 9 | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.4612-9768C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421527 | ||||||
| chr22:46421550
|
G | A | 9 | a0013c0010t0001g0007a0015c0045t0001g0062a0020c0043t0001g0052others(6): Show | 9 | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.4612-9791C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421550 | ||||||
| chr22:46421604
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4612-9845C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421604 | ||||||
| chr22:46421611
|
A | G | 11 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(8): Show | 11 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4612-9852T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421611 | ||||||
| chr22:46421619
|
C | A | 11 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(8): Show | 11 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4612-9860G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421619 | ||||||
| chr22:46421667
|
T | C | 12 | a0011c0011t0002g0011a0013c0010t0001g0007a0015c0045t0001g0062others(9): Show | 12 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.4612-9908A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421667 | ||||||
| chr22:46421668
|
A | G | 40 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(37): Show | 40 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(37): Show |
intron_variant | MODIFIER | c.4612-9909T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421668 | ||||||
| chr22:46421670
|
C | T | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4612-9911G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421670 | ||||||
| chr22:46421771
|
T | C | 11 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(8): Show | 11 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4612-10012A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421771 | ||||||
| chr22:46421780
|
G | C | 11 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(8): Show | 11 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4612-10021C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421780 | ||||||
| chr22:46421794
|
A | C | 11 | a0013c0010t0001g0007a0015c0045t0001g0062a0018c0046t0001g0030others(8): Show | 11 | HG01109.hp1 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4612-10035T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421794 | ||||||
| chr22:46421820
|
CAG | C | 2 | a0017c0020t0002g0020a0043c0058t0004g0096 | 2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4612-10063_4612-10 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421820 | ||||||
| chr22:46421859
|
C | G | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-10100G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421859 | ||||||
| chr22:46421866
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-10107G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421866 | ||||||
| chr22:46421879
|
G | A | 2 | a0017c0020t0002g0020a0043c0058t0004g0096 | 2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4612-10120C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421879 | ||||||
| chr22:46421949
|
T | G | 8 | a0015c0045t0001g0062a0018c0046t0001g0030a0020c0043t0001g0052others(5): Show | 8 | HG01109.hp1 HG02145.hp1 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.4612-10190A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421949 | ||||||
| chr22:46421989
|
C | T | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-10230G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421989 | ||||||
| chr22:46421990
|
A | G | 6 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(3): Show | 6 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.4612-10231T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46421990 | ||||||
| chr22:46422043
|
C | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4612-10284G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422043 | ||||||
| chr22:46422099
|
TGTTTA | T | 5 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039others(2): Show | 5 | HG02145.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-10345_4612-10 others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422099 | ||||||
| chr22:46422104
|
AT | A | 33 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(30): Show | 33 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.4612-10346delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422104 | ||||||
| chr22:46422105
|
T | A | 5 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039others(2): Show | 5 | HG02145.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.4612-10346A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422105 | ||||||
| chr22:46422113
|
G | A | 35 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(32): Show | 35 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.4612-10354C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422113 | ||||||
| chr22:46422119
|
T | C | 29 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(26): Show | 29 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.4612-10360A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422119 | ||||||
| chr22:46422141
|
T | G | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4612-10382A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422141 | ||||||
| chr22:46422167
|
A | G | 1 | a0004c0003t0001g0008 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4612-10408T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422167 | ||||||
| chr22:46422168
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-10409G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422168 | ||||||
| chr22:46422169
|
G | A | 19 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(16): Show | 19 | HG01099.hp1 HG01106.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.4612-10410C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422169 | ||||||
| chr22:46422232
|
A | G | 19 | a0003c0005t0002g0036a0003c0005t0002g0065a0004c0003t0015g0010others(16): Show | 19 | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.4612-10473T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422232 | ||||||
| chr22:46422267
|
G | A | 2 | a0001c0001t0001g0059a0001c0027t0001g0040 | 2 | HG02129.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.4612-10508C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422267 | ||||||
| chr22:46422359
|
C | T | 17 | a0001c0029t0001g0038a0001c0034t0001g0058a0002c0012t0003g0012others(14): Show | 17 | HG00642.hp2 HG00735.hp2 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.4612-10600G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422359 | ||||||
| chr22:46422360
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4612-10601C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422360 | ||||||
| chr22:46422482
|
G | C | 13 | a0006c0017t0001g0018a0006c0026t0001g0048a0011c0011t0002g0011others(10): Show | 13 | HG01081.hp2 HG01109.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.4612-10723C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422482 | ||||||
| chr22:46422490
|
T | C | 32 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(29): Show | 32 | HG01081.hp2 HG01099.hp1 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.4612-10731A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422490 | ||||||
| chr22:46422493
|
G | A | 2 | a0041c0066t0002g0103a0045c0059t0001g0094 | 2 | HG02630.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4612-10734C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422493 | ||||||
| chr22:46422501
|
AG | A | 13 | a0004c0003t0015g0010a0006c0017t0001g0018a0006c0026t0001g0048others(10): Show | 13 | HG01081.hp2 HG01109.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.4612-10743delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422501 | ||||||
| chr22:46422503
|
G | T | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.4612-10744C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422503 | ||||||
| chr22:46422504
|
G | T | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-10745C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422504 | ||||||
| chr22:46422505
|
G | T | 13 | a0004c0003t0015g0010a0006c0017t0001g0018a0006c0026t0001g0048others(10): Show | 13 | HG01081.hp2 HG01109.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.4612-10746C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422505 | ||||||
| chr22:46422509
|
C | A | 1 | a0001c0028t0001g0079 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.4612-10750G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422509 | ||||||
| chr22:46422545
|
C | T | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4612-10786G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422545 | ||||||
| chr22:46422577
|
A | T | 9 | a0005c0019t0001g0024a0013c0010t0001g0007a0015c0045t0001g0062others(6): Show | 9 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.4611+10816T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422577 | ||||||
| chr22:46422592
|
A | AAAAT | 4 | a0005c0019t0001g0024a0023c0042t0002g0054a0024c0021t0001g0061others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4611+10797_4611+10 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422592 | ||||||
| chr22:46422628
|
A | G | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4611+10765T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422628 | ||||||
| chr22:46422630
|
G | A | 15 | a0001c0001t0001g0037a0001c0004t0001g0032a0001c0004t0001g0057others(12): Show | 15 | HG00735.hp2 HG01099.hp1 HG01515.hp1 others(12): Show |
intron_variant | MODIFIER | c.4611+10763C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422630 | ||||||
| chr22:46422635
|
T | C | 4 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.4611+10758A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422635 | ||||||
| chr22:46422702
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4611+10691C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422702 | ||||||
| chr22:46422746
|
G | A | 4 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(1): Show | 4 | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.4611+10647C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422746 | ||||||
| chr22:46422766
|
C | CA | 17 | a0001c0004t0001g0032a0001c0034t0001g0058a0007c0023t0001g0042others(14): Show | 17 | HG00735.hp2 HG01099.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.4611+10626dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422766 | ||||||
| chr22:46422766
|
C | CAAAAAAA others(1): Show |
4 | a0004c0003t0015g0010a0006c0017t0001g0018a0020c0043t0001g0052others(1): Show | 4 | HG01261.hp1 HG01496.hp2 HG02735.hp2 others(1): Show |
intron_variant | MODIFIER | c.4611+10619_4611+10 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422766 | ||||||
| chr22:46422766
|
C | CAAAAAAA others(2): Show |
5 | a0015c0045t0001g0062a0024c0021t0001g0061a0028c0049t0001g0086others(2): Show | 5 | HG01109.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+10618_4611+10 others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422766 | ||||||
| chr22:46422781
|
T | A | 13 | a0004c0003t0015g0010a0005c0019t0001g0024a0006c0017t0001g0018others(10): Show | 13 | HG01081.hp2 HG01109.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.4611+10612A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422781 | ||||||
| chr22:46422783
|
G | T | 11 | a0004c0003t0015g0010a0005c0019t0001g0024a0006c0017t0001g0018others(8): Show | 11 | HG01081.hp2 HG01109.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.4611+10610C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422783 | ||||||
| chr22:46422787
|
A | G | 3 | a0015c0045t0001g0062a0020c0043t0001g0052a0046c0065t0002g0101 | 3 | HG01109.hp1 HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.4611+10606T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422787 | ||||||
| chr22:46422881
|
C | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4611+10512G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422881 | ||||||
| chr22:46422933
|
T | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4611+10460A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422933 | ||||||
| chr22:46422965
|
G | A | 1 | a0001c0031t0001g0047 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4611+10428C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46422965 | ||||||
| chr22:46423015
|
T | G | 2 | a0004c0003t0015g0010a0028c0049t0001g0086 | 2 | HG02735.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4611+10378A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423015 | ||||||
| chr22:46423079
|
C | T | 8 | a0004c0003t0015g0010a0013c0010t0001g0007a0015c0045t0001g0062others(5): Show | 8 | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.4611+10314G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423079 | ||||||
| chr22:46423108
|
T | C | 2 | a0041c0066t0002g0103a0044c0060t0001g0095 | 2 | HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4611+10285A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423108 | ||||||
| chr22:46423335
|
G | A | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+10058C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423335 | ||||||
| chr22:46423442
|
C | A | 7 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(4): Show | 7 | HG00642.hp2 HG01099.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.4611+9951G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423442 | ||||||
| chr22:46423442
|
C | T | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9951G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423442 | ||||||
| chr22:46423502
|
G | A | 5 | a0005c0019t0001g0024a0011c0011t0002g0011a0024c0021t0001g0061others(2): Show | 5 | HG01496.hp2 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4611+9891C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423502 | ||||||
| chr22:46423554
|
G | A | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9839C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423554 | ||||||
| chr22:46423591
|
G | A | 1 | a0001c0001t0001g0077 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.4611+9802C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423591 | ||||||
| chr22:46423607
|
GA | G | 26 | a0001c0004t0001g0032a0001c0034t0001g0058a0002c0012t0003g0012others(23): Show | 26 | HG00642.hp2 HG00735.hp2 HG01099.hp1 others(23): Show |
intron_variant | MODIFIER | c.4611+9785delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423607 | ||||||
| chr22:46423668
|
G | A | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+9725C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423668 | ||||||
| chr22:46423737
|
T | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+9656A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423737 | ||||||
| chr22:46423745
|
T | G | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+9648A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423745 | ||||||
| chr22:46423777
|
G | A | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9616C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423777 | ||||||
| chr22:46423845
|
C | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9548G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423845 | ||||||
| chr22:46423899
|
T | C | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.4611+9494A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423899 | ||||||
| chr22:46423907
|
C | T | 1 | a0001c0027t0001g0040 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.4611+9486G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423907 | ||||||
| chr22:46423923
|
C | T | 1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4611+9470G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46423923 | ||||||
| chr22:46424037
|
T | C | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+9356A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424037 | ||||||
| chr22:46424053
|
C | T | 6 | a0015c0045t0001g0062a0020c0043t0001g0052a0027c0052t0001g0031others(3): Show | 6 | HG01109.hp1 HG02630.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.4611+9340G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424053 | ||||||
| chr22:46424065
|
TA | T | 5 | a0015c0045t0001g0062a0020c0043t0001g0052a0032c0018t0002g0021others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+9327delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424065 | ||||||
| chr22:46424144
|
A | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9249T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424144 | ||||||
| chr22:46424178
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4611+9215G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424178 | ||||||
| chr22:46424207
|
T | C | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.4611+9186A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424207 | ||||||
| chr22:46424234
|
ATT | A | 55 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(52): Show | 55 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(52): Show |
intron_variant | MODIFIER | c.4611+9157_4611+915 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424234 | ||||||
| chr22:46424255
|
A | G | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4611+9138T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424255 | ||||||
| chr22:46424366
|
A | G | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+9027T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424366 | ||||||
| chr22:46424424
|
G | T | 61 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.4611+8969C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424424 | ||||||
| chr22:46424515
|
A | G | 6 | a0005c0019t0001g0024a0011c0011t0002g0011a0024c0021t0001g0061others(3): Show | 6 | HG01496.hp2 HG02055.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.4611+8878T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424515 | ||||||
| chr22:46424673
|
T | C | 9 | a0002c0016t0003g0025a0002c0051t0003g0053a0004c0003t0015g0010others(6): Show | 9 | HG02486.hp1 HG02615.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.4611+8720A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424673 | ||||||
| chr22:46424759
|
G | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4611+8634C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424759 | ||||||
| chr22:46424863
|
T | C | 49 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(46): Show | 49 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.4611+8530A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424863 | ||||||
| chr22:46424970
|
G | A | 63 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(60): Show | 63 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.4611+8423C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46424970 | ||||||
| chr22:46425008
|
C | T | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4611+8385G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425008 | ||||||
| chr22:46425142
|
G | A | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4611+8251C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425142 | ||||||
| chr22:46425412
|
C | T | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(65): Show | 68 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.4611+7981G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425412 | ||||||
| chr22:46425465
|
G | T | 48 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(45): Show | 48 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(45): Show |
intron_variant | MODIFIER | c.4611+7928C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425465 | ||||||
| chr22:46425505
|
T | C | 1 | a0001c0001t0001g0072 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4611+7888A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425505 | ||||||
| chr22:46425538
|
C | T | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+7855G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425538 | ||||||
| chr22:46425544
|
T | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4611+7849A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425544 | ||||||
| chr22:46425565
|
T | C | 3 | a0015c0045t0001g0062a0020c0043t0001g0052a0046c0065t0002g0101 | 3 | HG01109.hp1 HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.4611+7828A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425565 | ||||||
| chr22:46425690
|
G | C | 62 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(59): Show | 62 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.4611+7703C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425690 | ||||||
| chr22:46425706
|
GTTAATC | G | 44 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(41): Show | 44 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(41): Show |
intron_variant | MODIFIER | c.4611+7681_4611+768 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425706 | ||||||
| chr22:46425836
|
A | T | 54 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(51): Show | 54 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(51): Show |
intron_variant | MODIFIER | c.4611+7557T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46425836 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(8): Show |
3 | a0013c0010t0001g0007a0027c0052t0001g0031a0029c0037t0006g0002 | 3 | HG02486.hp1 HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4611+7249_4611+726 others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(23): Show |
3 | a0003c0015t0001g0022a0017c0020t0002g0020a0040c0067t0009g0104 | 3 | HG02818.hp2 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4611+7263_4611+726 others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(38): Show |
9 | a0001c0004t0001g0032a0002c0012t0003g0012a0010c0069t0005g0001others(6): Show | 9 | HG01099.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.4611+7263_4611+726 others(49): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(53): Show |
5 | a0007c0023t0001g0042a0041c0066t0002g0103a0043c0058t0004g0096others(2): Show | 5 | HG02647.hp2 HG02922.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.4611+7263_4611+726 others(64): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(53): Show |
3 | a0005c0019t0001g0024a0024c0021t0001g0061a0042c0061t0002g0097 | 3 | HG01496.hp2 HG02055.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4611+7263_4611+726 others(64): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(68): Show |
1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4611+7263_4611+726 others(79): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(53): Show |
2 | a0001c0034t0001g0058a0008c0014t0002g0016 | 2 | HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4611+7263_4611+726 others(64): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426129
|
T | TGGGGAGG others(68): Show |
1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4611+7263_4611+726 others(79): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426129 | ||||||
| chr22:46426203
|
G | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4611+7190C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426203 | ||||||
| chr22:46426389
|
G | A | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4611+7004C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426389 | ||||||
| chr22:46426534
|
CT | C | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4611+6858delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426534 | ||||||
| chr22:46426709
|
G | A | 3 | a0001c0001t0001g0078a0001c0001t0001g0085a0001c0002t0001g0015 | 3 | HG02027.hp1 HG02027.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.4611+6684C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426709 | ||||||
| chr22:46426868
|
G | C | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+6525C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46426868 | ||||||
| chr22:46427325
|
C | G | 2 | a0001c0004t0001g0032a0021c0030t0001g0033 | 2 | HG01099.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.4611+6068G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427325 | ||||||
| chr22:46427406
|
G | A | 13 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(10): Show | 13 | HG00642.hp2 HG01099.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.4611+5987C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427406 | ||||||
| chr22:46427411
|
C | T | 5 | a0001c0034t0001g0058a0008c0014t0002g0016a0011c0011t0002g0011others(2): Show | 5 | HG00735.hp2 HG02258.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.4611+5982G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427411 | ||||||
| chr22:46427502
|
C | T | 4 | a0007c0013t0001g0023a0015c0045t0001g0062a0020c0043t0001g0052others(1): Show | 4 | HG00642.hp2 HG01109.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.4611+5891G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427502 | ||||||
| chr22:46427661
|
G | A | 2 | a0001c0004t0001g0032a0021c0030t0001g0033 | 2 | HG01099.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.4611+5732C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427661 | ||||||
| chr22:46427788
|
C | T | 2 | a0001c0001t0001g0082a0009c0053t0001g0090 | 2 | HG00642.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.4611+5605G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427788 | ||||||
| chr22:46427960
|
G | A | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4611+5433C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46427960 | ||||||
| chr22:46428013
|
C | T | 12 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(9): Show | 12 | HG01099.hp1 HG02145.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.4611+5380G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428013 | ||||||
| chr22:46428055
|
C | T | 3 | a0004c0003t0015g0010a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02647.hp2 HG02735.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4611+5338G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428055 | ||||||
| chr22:46428081
|
C | T | 1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4611+5312G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428081 | ||||||
| chr22:46428149
|
C | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4611+5244G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428149 | ||||||
| chr22:46428201
|
C | T | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.4611+5192G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428201 | ||||||
| chr22:46428373
|
G | A | 3 | a0005c0019t0001g0024a0024c0021t0001g0061a0042c0061t0002g0097 | 3 | HG01496.hp2 HG02055.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4611+5020C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428373 | ||||||
| chr22:46428429
|
C | G | 13 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(10): Show | 13 | HG01099.hp1 HG02145.hp1 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.4611+4964G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428429 | ||||||
| chr22:46428833
|
T | A | 4 | a0002c0016t0003g0025a0002c0051t0003g0053a0048c0064t0001g0098others(1): Show | 4 | HG02615.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.4611+4560A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428833 | ||||||
| chr22:46428899
|
C | T | 1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4611+4494G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428899 | ||||||
| chr22:46428947
|
G | A | 2 | a0013c0010t0001g0007a0029c0037t0006g0002 | 2 | HG02486.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4611+4446C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46428947 | ||||||
| chr22:46429146
|
T | C | 31 | a0001c0004t0001g0032a0001c0034t0001g0058a0002c0012t0003g0012others(28): Show | 31 | HG00735.hp2 HG01099.hp1 HG01496.hp2 others(28): Show |
intron_variant | MODIFIER | c.4611+4247A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429146 | ||||||
| chr22:46429168
|
A | G | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4611+4225T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429168 | ||||||
| chr22:46429253
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.4611+4140G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429253 | ||||||
| chr22:46429281
|
G | A | 1 | a0001c0001t0001g0077 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.4611+4112C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429281 | ||||||
| chr22:46429532
|
C | T | 2 | a0041c0066t0002g0103a0044c0060t0001g0095 | 2 | HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4611+3861G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429532 | ||||||
| chr22:46429568
|
C | A | 2 | a0001c0001t0001g0059a0022c0050t0001g0055 | 2 | NA18970.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.4611+3825G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429568 | ||||||
| chr22:46429577
|
C | T | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4611+3816G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429577 | ||||||
| chr22:46429764
|
G | T | 2 | a0005c0019t0001g0024a0042c0061t0002g0097 | 2 | HG01496.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.4611+3629C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429764 | ||||||
| chr22:46429799
|
C | G | 17 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(14): Show | 17 | HG01099.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.4611+3594G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46429799 | ||||||
| chr22:46430032
|
G | C | 1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4611+3361C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430032 | ||||||
| chr22:46430112
|
G | A | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+3281C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430112 | ||||||
| chr22:46430123
|
C | T | 1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4611+3270G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430123 | ||||||
| chr22:46430130
|
C | G | 3 | a0001c0034t0001g0058a0008c0014t0002g0016a0037c0008t0001g0005 | 3 | HG00735.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4611+3263G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430130 | ||||||
| chr22:46430218
|
G | A | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4611+3175C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430218 | ||||||
| chr22:46430311
|
G | T | 5 | a0001c0034t0001g0058a0008c0014t0002g0016a0011c0011t0002g0011others(2): Show | 5 | HG00735.hp2 HG02258.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.4611+3082C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430311 | ||||||
| chr22:46430329
|
G | A | 1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4611+3064C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430329 | ||||||
| chr22:46430402
|
T | C | 41 | a0001c0004t0001g0032a0001c0034t0001g0058a0002c0012t0003g0012others(38): Show | 41 | HG00642.hp2 HG00735.hp2 HG01081.hp2 others(38): Show |
intron_variant | MODIFIER | c.4611+2991A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46430402 | ||||||
| chr22:46431031
|
C | T | 1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4611+2362G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431031 | ||||||
| chr22:46431141
|
G | T | 41 | a0001c0004t0001g0032a0001c0034t0001g0058a0002c0012t0003g0012others(38): Show | 41 | HG00099.hp1 HG00609.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.4611+2252C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431141 | ||||||
| chr22:46431402
|
A | G | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4611+1991T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431402 | ||||||
| chr22:46431511
|
C | T | 3 | a0002c0016t0003g0025a0002c0051t0003g0053a0050c0070t0007g0003 | 3 | HG02615.hp2 HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4611+1882G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431511 | ||||||
| chr22:46431569
|
G | A | 1 | a0001c0031t0001g0047 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4611+1824C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431569 | ||||||
| chr22:46431712
|
G | A | 17 | a0001c0004t0001g0032a0003c0015t0001g0022a0004c0003t0001g0009others(14): Show | 17 | HG00099.hp1 HG00609.hp1 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.4611+1681C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431712 | ||||||
| chr22:46431713
|
C | T | 3 | a0005c0019t0001g0024a0024c0021t0001g0061a0042c0061t0002g0097 | 3 | HG01496.hp2 HG02055.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4611+1680G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431713 | ||||||
| chr22:46431758
|
C | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4611+1635G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46431758 | ||||||
| chr22:46432085
|
G | A | 10 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4611+1308C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432085 | ||||||
| chr22:46432215
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4611+1178C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432215 | ||||||
| chr22:46432308
|
T | C | 43 | a0001c0001t0001g0081a0001c0004t0001g0032a0001c0006t0001g0044others(40): Show | 43 | HG00099.hp1 HG00609.hp1 HG00735.hp2 others(40): Show |
intron_variant | MODIFIER | c.4611+1085A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432308 | ||||||
| chr22:46432430
|
T | C | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+963A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432430 | ||||||
| chr22:46432457
|
C | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4611+936G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432457 | ||||||
| chr22:46432457
|
C | G | 42 | a0001c0004t0001g0032a0001c0034t0001g0058a0002c0012t0003g0012others(39): Show | 42 | HG00099.hp1 HG00609.hp1 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.4611+936G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432457 | ||||||
| chr22:46432458
|
G | A | 1 | a0001c0002t0001g0013 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4611+935C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432458 | ||||||
| chr22:46432477
|
G | A | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4611+916C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432477 | ||||||
| chr22:46432485
|
G | C | 2 | a0001c0001t0001g0082a0009c0053t0001g0090 | 2 | HG00642.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.4611+908C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432485 | ||||||
| chr22:46432571
|
G | A | 1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4611+822C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432571 | ||||||
| chr22:46432668
|
G | A | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4611+725C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432668 | ||||||
| chr22:46432700
|
T | C | 2 | a0001c0029t0001g0038a0039c0068t0001g0102 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4611+693A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46432700 | ||||||
| chr22:46433089
|
C | T | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4611+304G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46433089 | ||||||
| chr22:46433300
|
G | C | 3 | a0005c0019t0001g0024a0024c0021t0001g0061a0042c0061t0002g0097 | 3 | HG01496.hp2 HG02055.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4611+93C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | 46433300 | ||||||
| chr22:46433550
|
C | T | 3 | a0002c0016t0003g0025a0002c0051t0003g0053a0050c0070t0007g0003 | 3 | HG02615.hp2 HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4523-69G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46433550 | ||||||
| chr22:46433846
|
G | A | 10 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4523-365C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46433846 | ||||||
| chr22:46433973
|
G | A | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-492C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46433973 | ||||||
| chr22:46433974
|
C | T | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-493G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46433974 | ||||||
| chr22:46434030
|
T | C | 2 | a0027c0052t0001g0031a0032c0018t0002g0021 | 2 | HG02818.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4523-549A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434030 | ||||||
| chr22:46434068
|
A | G | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-587T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434068 | ||||||
| chr22:46434129
|
A | C | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-648T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434129 | ||||||
| chr22:46434213
|
G | A | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-732C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434213 | ||||||
| chr22:46434265
|
T | C | 4 | a0005c0019t0001g0024a0024c0021t0001g0061a0042c0061t0002g0097others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.4523-784A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434265 | ||||||
| chr22:46434414
|
C | G | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-933G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434414 | ||||||
| chr22:46434495
|
G | A | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-1014C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434495 | ||||||
| chr22:46434499
|
G | A | 10 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4523-1018C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434499 | ||||||
| chr22:46434561
|
A | C | 26 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(23): Show | 26 | HG00642.hp2 HG00735.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.4523-1080T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434561 | ||||||
| chr22:46434601
|
T | C | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-1120A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434601 | ||||||
| chr22:46434633
|
G | A | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4523-1152C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434633 | ||||||
| chr22:46434640
|
G | C | 3 | a0013c0010t0001g0007a0041c0066t0002g0103a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4523-1159C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434640 | ||||||
| chr22:46434921
|
T | C | 4 | a0007c0013t0001g0023a0015c0045t0001g0062a0028c0049t0001g0086others(1): Show | 4 | HG00642.hp2 HG01109.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.4522+1253A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434921 | ||||||
| chr22:46434959
|
T | G | 6 | a0001c0034t0001g0058a0007c0023t0001g0042a0008c0014t0002g0016others(3): Show | 6 | HG00735.hp2 HG02258.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.4522+1215A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46434959 | ||||||
| chr22:46435118
|
G | A | 10 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4522+1056C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435118 | ||||||
| chr22:46435258
|
G | A | 5 | a0001c0029t0001g0038a0013c0010t0001g0007a0039c0068t0001g0102others(2): Show | 5 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.4522+916C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435258 | ||||||
| chr22:46435261
|
C | CA | 6 | a0001c0001t0001g0051a0001c0002t0001g0015a0001c0028t0001g0079others(3): Show | 6 | HG00735.hp1 HG01261.hp2 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.4522+912dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435261 | ||||||
| chr22:46435279
|
A | AT | 10 | a0001c0002t0001g0017a0001c0006t0001g0064a0001c0025t0001g0070others(7): Show | 10 | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.4522+894dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435279 | ||||||
| chr22:46435279
|
AT | A | 4 | a0001c0001t0001g0077a0001c0031t0001g0047a0011c0011t0002g0011others(1): Show | 4 | HG00099.hp2 HG02258.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.4522+894delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435279 | ||||||
| chr22:46435280
|
T | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4522+894A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435280 | ||||||
| chr22:46435282
|
T | A | 2 | a0015c0045t0001g0062a0017c0020t0002g0020 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4522+892A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435282 | ||||||
| chr22:46435330
|
G | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4522+844C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435330 | ||||||
| chr22:46435390
|
T | A | 13 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(10): Show | 13 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.4522+784A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435390 | ||||||
| chr22:46435411
|
G | A | 25 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(22): Show | 25 | HG00642.hp2 HG00735.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.4522+763C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435411 | ||||||
| chr22:46435693
|
A | G | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4522+481T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435693 | ||||||
| chr22:46435846
|
G | A | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4522+328C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435846 | ||||||
| chr22:46435889
|
G | T | 10 | a0001c0034t0001g0058a0002c0016t0003g0025a0002c0051t0003g0053others(7): Show | 10 | HG00735.hp2 HG02258.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4522+285C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435889 | ||||||
| chr22:46435950
|
C | T | 26 | a0001c0029t0001g0038a0001c0034t0001g0058a0002c0016t0003g0025others(23): Show | 26 | HG00642.hp2 HG00735.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.4522+224G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46435950 | ||||||
| chr22:46436026
|
A | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4522+148T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46436026 | ||||||
| chr22:46436068
|
T | G | 14 | a0001c0034t0001g0058a0004c0003t0015g0010a0005c0019t0001g0024others(11): Show | 14 | HG00735.hp2 HG01496.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.4522+106A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46436068 | ||||||
| chr22:46436104
|
G | A | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.4522+70C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 4/34 | chr22 | 46436104 | ||||||
| chr22:46436367
|
C | T | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4407-78G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436367 | ||||||
| chr22:46436372
|
G | A | 2 | a0023c0042t0002g0054a0035c0057t0001g0093 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.4407-83C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436372 | ||||||
| chr22:46436653
|
G | A | 3 | a0007c0023t0001g0042a0011c0011t0002g0011a0047c0063t0003g0099 | 3 | HG02258.hp1 HG03471.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4407-364C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436653 | ||||||
| chr22:46436723
|
A | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4407-434T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436723 | ||||||
| chr22:46436738
|
G | A | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4407-449C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436738 | ||||||
| chr22:46436786
|
A | G | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4407-497T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436786 | ||||||
| chr22:46436835
|
C | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4407-546G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436835 | ||||||
| chr22:46436908
|
T | TA | 2 | a0001c0029t0001g0038a0039c0068t0001g0102 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4407-620dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436908 | ||||||
| chr22:46436967
|
T | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4407-678A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46436967 | ||||||
| chr22:46437055
|
A | C | 3 | a0017c0020t0002g0020a0027c0052t0001g0031a0032c0018t0002g0021 | 3 | HG02818.hp1 HG02818.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4407-766T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437055 | ||||||
| chr22:46437084
|
T | A | 12 | a0001c0004t0001g0032a0002c0012t0003g0012a0003c0015t0001g0022others(9): Show | 12 | HG00099.hp1 HG00609.hp1 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.4407-795A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437084 | ||||||
| chr22:46437145
|
G | A | 2 | a0001c0029t0001g0038a0039c0068t0001g0102 | 2 | HG02055.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4407-856C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437145 | ||||||
| chr22:46437163
|
A | G | 7 | a0001c0034t0001g0058a0007c0013t0001g0023a0007c0023t0001g0042others(4): Show | 7 | HG00642.hp2 HG00735.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.4407-874T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437163 | ||||||
| chr22:46437308
|
T | A | 3 | a0017c0020t0002g0020a0027c0052t0001g0031a0032c0018t0002g0021 | 3 | HG02818.hp1 HG02818.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4407-1019A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437308 | ||||||
| chr22:46437417
|
C | T | 3 | a0002c0016t0003g0025a0002c0051t0003g0053a0050c0070t0007g0003 | 3 | HG02615.hp2 HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4407-1128G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437417 | ||||||
| chr22:46437455
|
G | T | 31 | a0001c0029t0001g0038a0001c0034t0001g0058a0002c0016t0003g0025others(28): Show | 31 | HG00642.hp2 HG00735.hp2 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.4407-1166C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437455 | ||||||
| chr22:46437512
|
T | A | 1 | a0001c0006t0001g0064 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4407-1223A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437512 | ||||||
| chr22:46437522
|
G | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4407-1233C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437522 | ||||||
| chr22:46437553
|
C | T | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4407-1264G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437553 | ||||||
| chr22:46437602
|
T | G | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4407-1313A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437602 | ||||||
| chr22:46437682
|
C | T | 2 | a0002c0016t0003g0025a0002c0051t0003g0053 | 2 | HG02615.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4407-1393G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437682 | ||||||
| chr22:46437752
|
C | CA | 5 | a0001c0001t0001g0085a0001c0002t0001g0015a0001c0029t0001g0038others(2): Show | 5 | HG02027.hp1 HG02027.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.4406+1436dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437752 | ||||||
| chr22:46437762
|
A | G | 21 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0059others(18): Show | 21 | HG00099.hp1 HG00609.hp2 HG00621.hp2 others(18): Show |
intron_variant | MODIFIER | c.4406+1427T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437762 | ||||||
| chr22:46437843
|
G | A | 5 | a0018c0046t0001g0030a0020c0043t0001g0052a0023c0042t0002g0054others(2): Show | 5 | HG02145.hp1 HG03195.hp2 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.4406+1346C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437843 | ||||||
| chr22:46437929
|
C | G | 2 | a0041c0066t0002g0103a0050c0070t0007g0003 | 2 | HG03579.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4406+1260G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437929 | ||||||
| chr22:46437959
|
T | C | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4406+1230A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437959 | ||||||
| chr22:46437968
|
G | A | 5 | a0001c0001t0001g0084a0001c0001t0014g0060a0001c0002t0001g0013others(2): Show | 5 | HG00741.hp2 HG01081.hp2 HG01255.hp2 others(2): Show |
intron_variant | MODIFIER | c.4406+1221C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46437968 | ||||||
| chr22:46438129
|
G | A | 1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4406+1060C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438129 | ||||||
| chr22:46438149
|
CA | C | 3 | a0007c0023t0001g0042a0011c0011t0002g0011a0047c0063t0003g0099 | 3 | HG02258.hp1 HG03471.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4406+1039delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438149 | ||||||
| chr22:46438444
|
C | T | 1 | a0004c0003t0001g0008 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4406+745G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438444 | ||||||
| chr22:46438479
|
T | C | 9 | a0001c0001t0001g0084a0002c0051t0003g0053a0013c0010t0001g0007others(6): Show | 9 | HG00741.hp2 HG02486.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.4406+710A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438479 | ||||||
| chr22:46438528
|
G | T | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4406+661C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438528 | ||||||
| chr22:46438547
|
A | G | 4 | a0001c0034t0001g0058a0005c0019t0001g0024a0032c0018t0002g0021others(1): Show | 4 | HG01496.hp2 HG02055.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.4406+642T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438547 | ||||||
| chr22:46438621
|
T | G | 6 | a0007c0013t0001g0023a0011c0011t0002g0011a0013c0010t0001g0007others(3): Show | 6 | HG00642.hp2 HG02258.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4406+568A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438621 | ||||||
| chr22:46438687
|
C | T | 1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.4406+502G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438687 | ||||||
| chr22:46438690
|
G | C | 51 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0049others(48): Show | 51 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.4406+499C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438690 | ||||||
| chr22:46438823
|
G | C | 2 | a0011c0011t0002g0011a0017c0020t0002g0020 | 2 | HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4406+366C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438823 | ||||||
| chr22:46438828
|
A | G | 32 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0049others(29): Show | 32 | HG00609.hp1 HG00609.hp2 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.4406+361T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438828 | ||||||
| chr22:46438894
|
A | C | 3 | a0001c0040t0001g0088a0020c0043t0001g0052a0028c0049t0001g0086 | 3 | HG02683.hp1 NA18906.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4406+295T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438894 | ||||||
| chr22:46438919
|
A | G | 5 | a0002c0051t0003g0053a0031c0022t0004g0039a0035c0057t0001g0093others(2): Show | 5 | HG02647.hp1 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.4406+270T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438919 | ||||||
| chr22:46438922
|
T | C | 2 | a0013c0010t0001g0007a0044c0060t0001g0095 | 2 | HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4406+267A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438922 | ||||||
| chr22:46438932
|
G | A | 88 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(85): Show | 88 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.4406+257C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46438932 | ||||||
| chr22:46439048
|
G | A | 1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4406+141C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439048 | ||||||
| chr22:46439088
|
C | G | 3 | a0002c0016t0003g0025a0047c0063t0003g0099a0048c0064t0001g0098 | 3 | HG02615.hp2 HG02922.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4406+101G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439088 | ||||||
| chr22:46439103
|
T | C | 12 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0063others(9): Show | 12 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(9): Show |
intron_variant | MODIFIER | c.4406+86A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439103 | ||||||
| chr22:46439140
|
C | T | 19 | a0001c0029t0001g0038a0005c0019t0001g0024a0005c0048t0001g0080others(16): Show | 19 | HG01496.hp2 HG02055.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.4406+49G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439140 | ||||||
| chr22:46439157
|
C | A | 6 | a0003c0015t0001g0022a0010c0069t0005g0001a0013c0010t0001g0007others(3): Show | 6 | HG02258.hp2 HG02486.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.4406+32G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439157 | ||||||
| chr22:46439161
|
C | T | 2 | a0015c0045t0001g0062a0047c0063t0003g0099 | 2 | HG01109.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4406+28G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 3/34 | chr22 | 46439161 | ||||||
| chr22:46439441
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0011g0028a0003c0005t0002g0036others(3): Show | 6 | HG00099.hp1 HG00621.hp2 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.4184-30C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439441 | ||||||
| chr22:46439480
|
C | T | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4184-69G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439480 | ||||||
| chr22:46439544
|
G | C | 1 | a0001c0004t0001g0032 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4184-133C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439544 | ||||||
| chr22:46439661
|
C | T | 25 | a0001c0001t0001g0059a0001c0001t0001g0072a0001c0001t0001g0074others(22): Show | 25 | HG00621.hp2 HG01081.hp1 HG01099.hp2 others(22): Show |
intron_variant | MODIFIER | c.4184-250G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439661 | ||||||
| chr22:46439687
|
G | T | 2 | a0001c0001t0011g0028a0001c0006t0001g0044 | 2 | HG02129.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.4184-276C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439687 | ||||||
| chr22:46439806
|
C | T | 2 | a0001c0001t0001g0037a0001c0004t0001g0057 | 2 | HG01515.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.4184-395G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439806 | ||||||
| chr22:46439922
|
G | A | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4184-511C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439922 | ||||||
| chr22:46439933
|
C | CACCCCTC others(6): Show |
2 | a0028c0049t0001g0086a0029c0037t0006g0002 | 2 | HG02615.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4184-535_4184-523d others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439933 | ||||||
| chr22:46439954
|
G | A | 2 | a0001c0001t0001g0043a0001c0001t0001g0056 | 2 | HG02132.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.4184-543C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439954 | ||||||
| chr22:46439965
|
C | G | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4184-554G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439965 | ||||||
| chr22:46439984
|
C | T | 1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4184-573G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46439984 | ||||||
| chr22:46440284
|
C | T | 9 | a0002c0016t0003g0025a0005c0019t0001g0024a0015c0045t0001g0062others(6): Show | 9 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.4184-873G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440284 | ||||||
| chr22:46440488
|
C | T | 5 | a0002c0016t0003g0025a0028c0049t0001g0086a0029c0037t0006g0002others(2): Show | 5 | HG02615.hp1 HG02615.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-1077G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440488 | ||||||
| chr22:46440640
|
GTT | G | 5 | a0002c0016t0003g0025a0028c0049t0001g0086a0029c0037t0006g0002others(2): Show | 5 | HG02615.hp1 HG02615.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-1231_4184-123 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440640 | ||||||
| chr22:46440690
|
C | T | 4 | a0001c0001t0001g0059a0001c0001t0001g0078a0003c0005t0002g0036others(1): Show | 4 | NA18612.hp2 NA18970.hp1 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-1279G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440690 | ||||||
| chr22:46440695
|
C | T | 34 | a0001c0001t0001g0059a0001c0001t0001g0072a0001c0001t0001g0074others(31): Show | 34 | HG00735.hp2 HG01081.hp1 HG01099.hp2 others(31): Show |
intron_variant | MODIFIER | c.4184-1284G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440695 | ||||||
| chr22:46440909
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082 | 3 | HG01081.hp1 HG01258.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.4184-1498A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440909 | ||||||
| chr22:46440963
|
G | A | 5 | a0002c0016t0003g0025a0028c0049t0001g0086a0029c0037t0006g0002others(2): Show | 5 | HG02615.hp1 HG02615.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-1552C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46440963 | ||||||
| chr22:46441014
|
G | T | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4184-1603C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441014 | ||||||
| chr22:46441046
|
G | A | 5 | a0002c0016t0003g0025a0028c0049t0001g0086a0029c0037t0006g0002others(2): Show | 5 | HG02615.hp1 HG02615.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-1635C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441046 | ||||||
| chr22:46441088
|
G | C | 3 | a0005c0048t0001g0080a0032c0018t0002g0021a0045c0059t0001g0094 | 3 | HG02486.hp2 HG02630.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4184-1677C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441088 | ||||||
| chr22:46441096
|
C | T | 8 | a0001c0029t0001g0038a0002c0016t0003g0025a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.4184-1685G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441096 | ||||||
| chr22:46441152
|
C | CA | 14 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(11): Show | 14 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4184-1742dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441152 | ||||||
| chr22:46441152
|
CA | C | 14 | a0001c0029t0001g0038a0002c0016t0003g0025a0003c0015t0001g0022others(11): Show | 14 | HG01099.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.4184-1742delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441152 | ||||||
| chr22:46441167
|
A | G | 3 | a0001c0029t0001g0038a0013c0010t0001g0007a0044c0060t0001g0095 | 3 | HG02055.hp2 HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4184-1756T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441167 | ||||||
| chr22:46441195
|
G | C | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4184-1784C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441195 | ||||||
| chr22:46441217
|
A | G | 42 | a0001c0001t0001g0059a0001c0001t0001g0072a0001c0001t0001g0074others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-1806T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441217 | ||||||
| chr22:46441237
|
T | C | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4184-1826A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441237 | ||||||
| chr22:46441361
|
G | T | 11 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(8): Show | 11 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.4184-1950C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441361 | ||||||
| chr22:46441611
|
C | T | 11 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(8): Show | 11 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.4184-2200G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441611 | ||||||
| chr22:46441628
|
A | G | 8 | a0001c0029t0001g0038a0003c0015t0001g0022a0010c0069t0005g0001others(5): Show | 8 | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-2217T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441628 | ||||||
| chr22:46441629
|
T | G | 4 | a0001c0029t0001g0038a0013c0010t0001g0007a0041c0066t0002g0103others(1): Show | 4 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-2218A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441629 | ||||||
| chr22:46441698
|
A | G | 2 | a0028c0049t0001g0086a0029c0037t0006g0002 | 2 | HG02615.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4184-2287T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441698 | ||||||
| chr22:46441859
|
T | C | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0018c0046t0001g0030others(2): Show | 5 | HG02145.hp1 HG02258.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-2448A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441859 | ||||||
| chr22:46441866
|
A | C | 5 | a0003c0015t0001g0022a0010c0069t0005g0001a0018c0046t0001g0030others(2): Show | 5 | HG02145.hp1 HG02258.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-2455T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441866 | ||||||
| chr22:46441874
|
C | T | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4184-2463G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441874 | ||||||
| chr22:46441996
|
A | G | 19 | a0001c0001t0001g0059a0001c0001t0001g0078a0001c0001t0014g0060others(16): Show | 19 | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.4184-2585T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46441996 | ||||||
| chr22:46442144
|
G | A | 3 | a0001c0001t0001g0081a0005c0048t0001g0080a0045c0059t0001g0094 | 3 | HG02486.hp2 HG02630.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.4184-2733C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442144 | ||||||
| chr22:46442257
|
T | C | 16 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(13): Show | 16 | HG00642.hp2 HG01081.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.4184-2846A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442257 | ||||||
| chr22:46442277
|
G | A | 3 | a0001c0029t0001g0038a0013c0010t0001g0007a0044c0060t0001g0095 | 3 | HG02055.hp2 HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4184-2866C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442277 | ||||||
| chr22:46442315
|
T | C | 10 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(7): Show | 10 | HG00642.hp2 HG01081.hp1 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.4184-2904A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442315 | ||||||
| chr22:46442449
|
GCAGGGCA others(24): Show |
G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4184-3069_4184-303 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442449 | ||||||
| chr22:46442548
|
G | A | 6 | a0001c0001t0014g0060a0001c0031t0001g0047a0001c0034t0001g0058others(3): Show | 6 | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(3): Show |
intron_variant | MODIFIER | c.4184-3137C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442548 | ||||||
| chr22:46442619
|
G | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-3208C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442619 | ||||||
| chr22:46442813
|
C | G | 3 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104 | 3 | HG02258.hp2 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4184-3402G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442813 | ||||||
| chr22:46442818
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-3407C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442818 | ||||||
| chr22:46442830
|
G | A | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4184-3419C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442830 | ||||||
| chr22:46442846
|
T | C | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-3435A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442846 | ||||||
| chr22:46442862
|
C | T | 41 | a0001c0001t0001g0059a0001c0001t0001g0072a0001c0001t0001g0074others(38): Show | 41 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(38): Show |
intron_variant | MODIFIER | c.4184-3451G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442862 | ||||||
| chr22:46442952
|
A | G | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-3541T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442952 | ||||||
| chr22:46442991
|
A | G | 4 | a0001c0029t0001g0038a0013c0010t0001g0007a0032c0018t0002g0021others(1): Show | 4 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-3580T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46442991 | ||||||
| chr22:46443047
|
G | A | 4 | a0005c0048t0001g0080a0028c0049t0001g0086a0029c0037t0006g0002others(1): Show | 4 | HG02486.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.4184-3636C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443047 | ||||||
| chr22:46443057
|
C | G | 4 | a0005c0048t0001g0080a0028c0049t0001g0086a0029c0037t0006g0002others(1): Show | 4 | HG02486.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.4184-3646G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443057 | ||||||
| chr22:46443102
|
G | GA | 5 | a0003c0005t0002g0065a0005c0048t0001g0080a0028c0049t0001g0086others(2): Show | 5 | HG01106.hp1 HG02486.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-3692dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443102 | ||||||
| chr22:46443102
|
GA | G | 5 | a0001c0029t0001g0038a0013c0010t0001g0007a0036c0056t0001g0092others(2): Show | 5 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.4184-3692delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443102 | ||||||
| chr22:46443222
|
T | C | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4184-3811A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443222 | ||||||
| chr22:46443276
|
C | T | 4 | a0005c0048t0001g0080a0028c0049t0001g0086a0029c0037t0006g0002others(1): Show | 4 | HG02486.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.4184-3865G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443276 | ||||||
| chr22:46443437
|
G | C | 42 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-4026C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443437 | ||||||
| chr22:46443484
|
C | T | 39 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(36): Show | 39 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.4184-4073G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443484 | ||||||
| chr22:46443503
|
T | C | 5 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(2): Show | 5 | HG01099.hp2 HG02647.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4184-4092A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443503 | ||||||
| chr22:46443659
|
TCA | T | 42 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-4250_4184-424 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443659 | ||||||
| chr22:46443686
|
C | T | 42 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-4275G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443686 | ||||||
| chr22:46443730
|
A | G | 54 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(51): Show | 54 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.4184-4319T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443730 | ||||||
| chr22:46443815
|
C | T | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4184-4404G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443815 | ||||||
| chr22:46443997
|
C | T | 5 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(2): Show | 5 | HG01515.hp1 HG01515.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-4586G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46443997 | ||||||
| chr22:46444073
|
A | G | 4 | a0003c0015t0001g0022a0010c0069t0005g0001a0018c0046t0001g0030others(1): Show | 4 | HG02145.hp1 HG02258.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-4662T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444073 | ||||||
| chr22:46444082
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4184-4671C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444082 | ||||||
| chr22:46444220
|
C | T | 2 | a0013c0010t0001g0007a0044c0060t0001g0095 | 2 | HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4184-4809G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444220 | ||||||
| chr22:46444356
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-4945G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444356 | ||||||
| chr22:46444393
|
C | A | 42 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-4982G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444393 | ||||||
| chr22:46444418
|
G | A | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4184-5007C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444418 | ||||||
| chr22:46444660
|
C | T | 1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4184-5249G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444660 | ||||||
| chr22:46444670
|
G | A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4184-5259C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46444670 | ||||||
| chr22:46445004
|
G | C | 42 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(39): Show | 42 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.4184-5593C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445004 | ||||||
| chr22:46445054
|
G | A | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4184-5643C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445054 | ||||||
| chr22:46445056
|
C | T | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4184-5645G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445056 | ||||||
| chr22:46445166
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(34): Show | 37 | HG00099.hp2 HG00735.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.4184-5755T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445166 | ||||||
| chr22:46445192
|
A | C | 3 | a0003c0015t0001g0022a0010c0069t0005g0001a0040c0067t0009g0104 | 3 | HG02258.hp2 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4184-5781T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445192 | ||||||
| chr22:46445309
|
T | C | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-5898A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445309 | ||||||
| chr22:46445470
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.4184-6059C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445470 | ||||||
| chr22:46445486
|
C | G | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-6075G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445486 | ||||||
| chr22:46445502
|
G | A | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6091C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445502 | ||||||
| chr22:46445502
|
G | T | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4184-6091C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445502 | ||||||
| chr22:46445694
|
A | G | 1 | a0004c0003t0001g0008 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4184-6283T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445694 | ||||||
| chr22:46445740
|
A | G | 5 | a0005c0019t0001g0024a0011c0011t0002g0011a0015c0045t0001g0062others(2): Show | 5 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.4184-6329T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445740 | ||||||
| chr22:46445774
|
C | T | 2 | a0013c0010t0001g0007a0044c0060t0001g0095 | 2 | HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4184-6363G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445774 | ||||||
| chr22:46445807
|
C | T | 1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4184-6396G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445807 | ||||||
| chr22:46445901
|
C | A | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6490G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445901 | ||||||
| chr22:46445940
|
A | G | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6529T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445940 | ||||||
| chr22:46445954
|
G | A | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4184-6543C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445954 | ||||||
| chr22:46445972
|
G | A | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6561C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46445972 | ||||||
| chr22:46446014
|
C | G | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6603G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446014 | ||||||
| chr22:46446111
|
C | T | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6700G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446111 | ||||||
| chr22:46446123
|
C | T | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6712G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446123 | ||||||
| chr22:46446125
|
C | T | 24 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(21): Show | 24 | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.4184-6714G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446125 | ||||||
| chr22:46446146
|
C | T | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6735G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446146 | ||||||
| chr22:46446190
|
A | G | 11 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(8): Show | 11 | HG02055.hp2 HG02486.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.4184-6779T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446190 | ||||||
| chr22:46446210
|
G | A | 7 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(4): Show | 7 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4184-6799C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446210 | ||||||
| chr22:46446302
|
T | A | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-6891A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446302 | ||||||
| chr22:46446447
|
G | A | 7 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(4): Show | 7 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4184-7036C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446447 | ||||||
| chr22:46446468
|
T | C | 8 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4184-7057A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446468 | ||||||
| chr22:46446547
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.4184-7136C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446547 | ||||||
| chr22:46446706
|
C | T | 7 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(4): Show | 7 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4184-7295G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446706 | ||||||
| chr22:46446717
|
A | C | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4184-7306T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446717 | ||||||
| chr22:46446740
|
G | C | 17 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0081others(14): Show | 17 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(14): Show |
intron_variant | MODIFIER | c.4184-7329C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446740 | ||||||
| chr22:46446752
|
A | G | 7 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(4): Show | 7 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4184-7341T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446752 | ||||||
| chr22:46446902
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.4184-7491A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446902 | ||||||
| chr22:46446971
|
C | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4184-7560G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46446971 | ||||||
| chr22:46447014
|
G | C | 4 | a0007c0023t0001g0042a0023c0042t0002g0054a0031c0022t0004g0039others(1): Show | 4 | HG03195.hp2 HG06807.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.4184-7603C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447014 | ||||||
| chr22:46447076
|
C | T | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4184-7665G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447076 | ||||||
| chr22:46447305
|
TA | T | 2 | a0001c0001t0001g0037a0001c0004t0001g0057 | 2 | HG01515.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.4184-7895delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447305 | ||||||
| chr22:46447533
|
C | T | 3 | a0007c0023t0001g0042a0023c0042t0002g0054a0039c0068t0001g0102 | 3 | HG06807.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4184-8122G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447533 | ||||||
| chr22:46447632
|
A | G | 2 | a0001c0001t0014g0060a0037c0008t0001g0005 | 2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.4184-8221T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447632 | ||||||
| chr22:46447848
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-8437C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447848 | ||||||
| chr22:46447866
|
C | T | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4184-8455G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447866 | ||||||
| chr22:46447887
|
T | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(43): Show | 46 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.4184-8476A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447887 | ||||||
| chr22:46447901
|
C | T | 4 | a0001c0001t0001g0059a0001c0001t0001g0078a0003c0005t0002g0036others(1): Show | 4 | NA18612.hp2 NA18970.hp1 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-8490G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447901 | ||||||
| chr22:46447904
|
G | A | 9 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(6): Show | 9 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.4184-8493C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447904 | ||||||
| chr22:46447937
|
G | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4184-8526C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46447937 | ||||||
| chr22:46448021
|
T | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(43): Show | 46 | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.4184-8610A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46448021 | ||||||
| chr22:46448527
|
A | G | 2 | a0003c0015t0001g0022a0010c0069t0005g0001 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4184-9116T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46448527 | ||||||
| chr22:46448947
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4184-9536C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46448947 | ||||||
| chr22:46449125
|
CCACCCAG others(12): Show |
C | 2 | a0003c0015t0001g0022a0010c0069t0005g0001 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4184-9733_4184-971 others(23): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449125 | ||||||
| chr22:46449211
|
G | A | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4184-9800C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449211 | ||||||
| chr22:46449240
|
C | T | 3 | a0025c0024t0001g0046a0026c0038t0008g0026a0043c0058t0004g0096 | 3 | HG00099.hp1 HG02922.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4184-9829G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449240 | ||||||
| chr22:46449244
|
C | A | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4184-9833G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449244 | ||||||
| chr22:46449342
|
A | ACATCCAT others(24): Show |
1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4184-9962_4184-993 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449342 | ||||||
| chr22:46449342
|
ACATCCAT others(55): Show |
A | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4184-9993_4184-993 others(66): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449342 | ||||||
| chr22:46449365
|
ACATC | A | 7 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(4): Show | 7 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.4184-9958_4184-995 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449365 | ||||||
| chr22:46449369
|
C | CCATCCAT others(20): Show |
4 | a0001c0029t0001g0038a0013c0010t0001g0007a0040c0067t0009g0104others(1): Show | 4 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.4184-9985_4184-995 others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449369 | ||||||
| chr22:46449455
|
C | G | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4184-10044G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449455 | ||||||
| chr22:46449579
|
G | A | 24 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(21): Show | 24 | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.4184-10168C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449579 | ||||||
| chr22:46449703
|
T | C | 9 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(6): Show | 9 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.4184-10292A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449703 | ||||||
| chr22:46449951
|
C | T | 2 | a0026c0038t0008g0026a0043c0058t0004g0096 | 2 | HG02922.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4184-10540G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449951 | ||||||
| chr22:46449952
|
G | GCACTCAC others(11): Show |
38 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(35): Show | 38 | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(35): Show |
intron_variant | MODIFIER | c.4184-10559_4184-10 others(24): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46449952 | ||||||
| chr22:46450393
|
C | T | 6 | a0001c0029t0001g0038a0013c0010t0001g0007a0017c0020t0002g0020others(3): Show | 6 | HG02055.hp2 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4184-10982G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450393 | ||||||
| chr22:46450423
|
T | C | 18 | a0001c0029t0001g0038a0002c0016t0003g0025a0005c0019t0001g0024others(15): Show | 18 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.4184-11012A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450423 | ||||||
| chr22:46450691
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4184-11280C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450691 | ||||||
| chr22:46450723
|
C | T | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4184-11312G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450723 | ||||||
| chr22:46450866
|
C | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4184-11455G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450866 | ||||||
| chr22:46450932
|
G | A | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4184-11521C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450932 | ||||||
| chr22:46450984
|
T | C | 14 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(11): Show | 14 | HG00735.hp2 HG01255.hp2 HG01515.hp1 others(11): Show |
intron_variant | MODIFIER | c.4184-11573A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46450984 | ||||||
| chr22:46451014
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(34): Show | 37 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(34): Show |
intron_variant | MODIFIER | c.4184-11603T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451014 | ||||||
| chr22:46451101
|
C | T | 1 | a0008c0014t0002g0016 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4184-11690G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451101 | ||||||
| chr22:46451213
|
T | C | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4184-11802A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451213 | ||||||
| chr22:46451317
|
G | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4184-11906C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451317 | ||||||
| chr22:46451366
|
A | G | 46 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(43): Show | 46 | HG00735.hp2 HG01081.hp1 HG01099.hp2 others(43): Show |
intron_variant | MODIFIER | c.4184-11955T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451366 | ||||||
| chr22:46451478
|
G | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4184-12067C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451478 | ||||||
| chr22:46451505
|
C | G | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4184-12094G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451505 | ||||||
| chr22:46451570
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(34): Show | 37 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(34): Show |
intron_variant | MODIFIER | c.4183+12137T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451570 | ||||||
| chr22:46451598
|
T | C | 101 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.4183+12109A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451598 | ||||||
| chr22:46451655
|
C | A | 1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4183+12052G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451655 | ||||||
| chr22:46451682
|
T | C | 34 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(31): Show | 34 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(31): Show |
intron_variant | MODIFIER | c.4183+12025A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451682 | ||||||
| chr22:46451741
|
G | C | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4183+11966C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451741 | ||||||
| chr22:46451876
|
G | A | 34 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(31): Show | 34 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(31): Show |
intron_variant | MODIFIER | c.4183+11831C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46451876 | ||||||
| chr22:46452054
|
G | A | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0039c0068t0001g0102 | 3 | HG02145.hp1 HG02818.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4183+11653C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452054 | ||||||
| chr22:46452124
|
C | T | 10 | a0001c0029t0001g0038a0002c0016t0003g0025a0007c0023t0001g0042others(7): Show | 10 | HG02055.hp2 HG02486.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4183+11583G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452124 | ||||||
| chr22:46452125
|
G | A | 9 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(6): Show | 9 | HG01081.hp1 HG01099.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.4183+11582C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452125 | ||||||
| chr22:46452155
|
TC | T | 9 | a0001c0029t0001g0038a0002c0016t0003g0025a0007c0023t0001g0042others(6): Show | 9 | HG02055.hp2 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+11551delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452155 | ||||||
| chr22:46452167
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+11540C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452167 | ||||||
| chr22:46452194
|
G | A | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4183+11513C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452194 | ||||||
| chr22:46452332
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4183+11375G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452332 | ||||||
| chr22:46452754
|
A | G | 47 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(44): Show | 47 | HG00642.hp2 HG00735.hp2 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.4183+10953T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452754 | ||||||
| chr22:46452922
|
T | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(34): Show | 37 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(34): Show |
intron_variant | MODIFIER | c.4183+10785A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46452922 | ||||||
| chr22:46453111
|
G | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+10596C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453111 | ||||||
| chr22:46453126
|
C | T | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+10581G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453126 | ||||||
| chr22:46453219
|
C | T | 1 | a0001c0029t0001g0038 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4183+10488G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453219 | ||||||
| chr22:46453272
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(34): Show | 37 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(34): Show |
intron_variant | MODIFIER | c.4183+10435T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453272 | ||||||
| chr22:46453347
|
C | T | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4183+10360G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453347 | ||||||
| chr22:46453407
|
C | T | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+10300G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453407 | ||||||
| chr22:46453452
|
T | C | 2 | a0003c0015t0001g0022a0010c0069t0005g0001 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4183+10255A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453452 | ||||||
| chr22:46453462
|
G | A | 10 | a0005c0019t0001g0024a0007c0023t0001g0042a0011c0011t0002g0011others(7): Show | 10 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.4183+10245C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453462 | ||||||
| chr22:46453562
|
C | T | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4183+10145G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453562 | ||||||
| chr22:46453673
|
A | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4183+10034T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453673 | ||||||
| chr22:46453685
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4183+10022C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453685 | ||||||
| chr22:46453734
|
C | G | 3 | a0001c0001t0001g0045a0004c0003t0001g0008a0009c0054t0001g0089 | 3 | HG00639.hp1 HG01258.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.4183+9973G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453734 | ||||||
| chr22:46453746
|
A | G | 46 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0072others(43): Show | 46 | HG00735.hp2 HG01081.hp1 HG01099.hp2 others(43): Show |
intron_variant | MODIFIER | c.4183+9961T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453746 | ||||||
| chr22:46453751
|
C | T | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4183+9956G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453751 | ||||||
| chr22:46453827
|
G | A | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4183+9880C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453827 | ||||||
| chr22:46453948
|
G | A | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+9759C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46453948 | ||||||
| chr22:46454044
|
C | T | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4183+9663G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454044 | ||||||
| chr22:46454090
|
C | T | 5 | a0017c0020t0002g0020a0018c0046t0001g0030a0028c0049t0001g0086others(2): Show | 5 | HG02145.hp1 HG02615.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.4183+9617G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454090 | ||||||
| chr22:46454138
|
G | A | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+9569C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454138 | ||||||
| chr22:46454363
|
G | C | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4183+9344C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454363 | ||||||
| chr22:46454460
|
C | T | 2 | a0026c0038t0008g0026a0043c0058t0004g0096 | 2 | HG02922.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4183+9247G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454460 | ||||||
| chr22:46454507
|
C | T | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4183+9200G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454507 | ||||||
| chr22:46454546
|
A | G | 17 | a0001c0029t0001g0038a0005c0019t0001g0024a0007c0023t0001g0042others(14): Show | 17 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.4183+9161T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454546 | ||||||
| chr22:46454633
|
C | T | 17 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(14): Show | 17 | HG00735.hp2 HG01255.hp2 HG01515.hp1 others(14): Show |
intron_variant | MODIFIER | c.4183+9074G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454633 | ||||||
| chr22:46454746
|
C | T | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+8961G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454746 | ||||||
| chr22:46454760
|
G | A | 1 | a0001c0029t0001g0038 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4183+8947C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46454760 | ||||||
| chr22:46455189
|
C | T | 29 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(26): Show | 29 | HG00642.hp2 HG01081.hp1 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.4183+8518G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455189 | ||||||
| chr22:46455241
|
T | C | 2 | a0003c0015t0001g0022a0010c0069t0005g0001 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4183+8466A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455241 | ||||||
| chr22:46455349
|
T | C | 14 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(11): Show | 14 | HG00735.hp2 HG01255.hp2 HG01515.hp1 others(11): Show |
intron_variant | MODIFIER | c.4183+8358A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455349 | ||||||
| chr22:46455422
|
G | A | 17 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(14): Show | 17 | HG00735.hp2 HG01255.hp2 HG01515.hp1 others(14): Show |
intron_variant | MODIFIER | c.4183+8285C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455422 | ||||||
| chr22:46455560
|
C | G | 3 | a0002c0016t0003g0025a0032c0018t0002g0021a0048c0064t0001g0098 | 3 | HG02615.hp2 HG02922.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4183+8147G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455560 | ||||||
| chr22:46455580
|
C | T | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4183+8127G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455580 | ||||||
| chr22:46455648
|
C | T | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4183+8059G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455648 | ||||||
| chr22:46455729
|
T | A | 2 | a0007c0023t0001g0042a0023c0042t0002g0054 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4183+7978A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455729 | ||||||
| chr22:46455746
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.4183+7961G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455746 | ||||||
| chr22:46455817
|
A | G | 4 | a0001c0001t0001g0059a0001c0001t0001g0078a0003c0005t0002g0036others(1): Show | 4 | NA18612.hp2 NA18970.hp1 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7890T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455817 | ||||||
| chr22:46455832
|
T | C | 6 | a0001c0029t0001g0038a0007c0023t0001g0042a0013c0010t0001g0007others(3): Show | 6 | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.4183+7875A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455832 | ||||||
| chr22:46455913
|
T | A | 1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4183+7794A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455913 | ||||||
| chr22:46455956
|
C | G | 28 | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(25): Show | 28 | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(25): Show |
intron_variant | MODIFIER | c.4183+7751G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46455956 | ||||||
| chr22:46456063
|
C | T | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4183+7644G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456063 | ||||||
| chr22:46456063
|
CTTTA | C | 5 | a0001c0031t0001g0047a0006c0026t0001g0048a0013c0010t0001g0007others(2): Show | 5 | HG00099.hp2 HG01081.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.4183+7640_4183+764 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456063 | ||||||
| chr22:46456240
|
C | T | 1 | a0001c0001t0001g0084 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.4183+7467G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456240 | ||||||
| chr22:46456254
|
C | T | 2 | a0001c0001t0001g0056a0001c0039t0001g0073 | 2 | HG01496.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.4183+7453G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456254 | ||||||
| chr22:46456431
|
G | A | 5 | a0005c0019t0001g0024a0011c0011t0002g0011a0015c0045t0001g0062others(2): Show | 5 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.4183+7276C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456431 | ||||||
| chr22:46456436
|
G | C | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4183+7271C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456436 | ||||||
| chr22:46456475
|
A | T | 36 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0059others(33): Show | 36 | HG00099.hp1 HG00621.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.4183+7232T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456475 | ||||||
| chr22:46456533
|
G | T | 9 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(6): Show | 9 | HG00735.hp2 HG01255.hp2 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.4183+7174C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456533 | ||||||
| chr22:46456557
|
G | T | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4183+7150C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456557 | ||||||
| chr22:46456595
|
A | G | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7112T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456595 | ||||||
| chr22:46456612
|
G | A | 10 | a0001c0002t0001g0013a0001c0002t0001g0014a0002c0012t0003g0012others(7): Show | 10 | HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.4183+7095C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456612 | ||||||
| chr22:46456617
|
T | C | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7090A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456617 | ||||||
| chr22:46456623
|
G | A | 41 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0049others(38): Show | 41 | HG00621.hp1 HG00735.hp2 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.4183+7084C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456623 | ||||||
| chr22:46456631
|
T | C | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7076A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456631 | ||||||
| chr22:46456641
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4183+7066G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456641 | ||||||
| chr22:46456650
|
G | A | 8 | a0005c0048t0001g0080a0017c0020t0002g0020a0018c0046t0001g0030others(5): Show | 8 | HG02145.hp1 HG02486.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.4183+7057C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456650 | ||||||
| chr22:46456657
|
T | C | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7050A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456657 | ||||||
| chr22:46456658
|
G | A | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7049C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456658 | ||||||
| chr22:46456661
|
T | TA | 7 | a0001c0001t0001g0081a0001c0006t0001g0064a0005c0019t0001g0024others(4): Show | 7 | HG00642.hp2 HG01109.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.4183+7045dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456661 | ||||||
| chr22:46456661
|
TA | T | 16 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0067others(13): Show | 16 | HG00735.hp2 HG01081.hp1 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.4183+7045delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456661 | ||||||
| chr22:46456661
|
TAA | T | 13 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(10): Show | 13 | HG01515.hp1 HG01515.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.4183+7044_4183+704 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456661 | ||||||
| chr22:46456661
|
TAAA | T | 12 | a0001c0001t0001g0063a0001c0001t0001g0078a0001c0040t0001g0088others(9): Show | 12 | HG00621.hp1 HG02647.hp1 HG02683.hp1 others(9): Show |
intron_variant | MODIFIER | c.4183+7043_4183+704 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456661 | ||||||
| chr22:46456662
|
A | T | 4 | a0001c0029t0001g0038a0007c0023t0001g0042a0023c0042t0002g0054others(1): Show | 4 | HG02055.hp2 HG03471.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.4183+7045T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456662 | ||||||
| chr22:46456664
|
A | C | 4 | a0001c0001t0001g0037a0001c0001t0016g0069a0001c0004t0001g0057others(1): Show | 4 | HG01515.hp1 HG01515.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4183+7043T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456664 | ||||||
| chr22:46456686
|
A | G | 4 | a0002c0016t0003g0025a0002c0051t0003g0053a0024c0021t0001g0061others(1): Show | 4 | HG02615.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.4183+7021T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456686 | ||||||
| chr22:46456773
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4183+6934A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456773 | ||||||
| chr22:46456906
|
G | GA | 6 | a0001c0029t0001g0038a0005c0019t0001g0024a0007c0023t0001g0042others(3): Show | 6 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.4183+6800_4183+680 others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46456906 | ||||||
| chr22:46457033
|
A | C | 60 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.4183+6674T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457033 | ||||||
| chr22:46457078
|
G | A | 4 | a0002c0016t0003g0025a0002c0051t0003g0053a0024c0021t0001g0061others(1): Show | 4 | HG02615.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.4183+6629C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457078 | ||||||
| chr22:46457121
|
A | C | 2 | a0005c0048t0001g0080a0049c0062t0013g0100 | 2 | HG02486.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4183+6586T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457121 | ||||||
| chr22:46457205
|
A | C | 13 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0078others(10): Show | 13 | HG00621.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.4183+6502T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457205 | ||||||
| chr22:46457283
|
T | C | 1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4183+6424A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457283 | ||||||
| chr22:46457349
|
C | G | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4183+6358G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457349 | ||||||
| chr22:46457354
|
A | G | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+6353T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457354 | ||||||
| chr22:46457369
|
G | C | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+6338C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457369 | ||||||
| chr22:46457395
|
T | C | 83 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(80): Show | 83 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.4183+6312A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457395 | ||||||
| chr22:46457424
|
G | A | 38 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(35): Show | 38 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.4183+6283C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457424 | ||||||
| chr22:46457472
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+6235G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457472 | ||||||
| chr22:46457585
|
G | A | 38 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(35): Show | 38 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.4183+6122C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457585 | ||||||
| chr22:46457628
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4183+6079G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457628 | ||||||
| chr22:46457691
|
A | G | 83 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(80): Show | 83 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.4183+6016T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457691 | ||||||
| chr22:46457697
|
G | A | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4183+6010C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457697 | ||||||
| chr22:46457713
|
A | G | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4183+5994T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457713 | ||||||
| chr22:46457802
|
C | T | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4183+5905G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457802 | ||||||
| chr22:46457917
|
C | T | 3 | a0005c0019t0001g0024a0015c0045t0001g0062a0042c0061t0002g0097 | 3 | HG01109.hp1 HG01496.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.4183+5790G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46457917 | ||||||
| chr22:46458046
|
C | T | 1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4183+5661G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458046 | ||||||
| chr22:46458081
|
A | G | 5 | a0002c0016t0003g0025a0002c0051t0003g0053a0024c0021t0001g0061others(2): Show | 5 | HG02615.hp2 HG02647.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4183+5626T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458081 | ||||||
| chr22:46458110
|
AGAG | A | 18 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0072others(15): Show | 18 | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.4183+5594_4183+559 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458110 | ||||||
| chr22:46458166
|
G | A | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.4183+5541C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458166 | ||||||
| chr22:46458337
|
T | C | 10 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0078others(7): Show | 10 | HG00621.hp1 HG02683.hp1 HG03195.hp2 others(7): Show |
intron_variant | MODIFIER | c.4183+5370A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458337 | ||||||
| chr22:46458382
|
G | A | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4183+5325C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458382 | ||||||
| chr22:46458479
|
G | C | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4183+5228C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458479 | ||||||
| chr22:46458501
|
A | G | 83 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(80): Show | 83 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.4183+5206T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458501 | ||||||
| chr22:46458548
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4183+5159C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458548 | ||||||
| chr22:46458754
|
G | A | 5 | a0002c0016t0003g0025a0002c0051t0003g0053a0024c0021t0001g0061others(2): Show | 5 | HG02615.hp2 HG02647.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4183+4953C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458754 | ||||||
| chr22:46458886
|
T | A | 2 | a0013c0010t0001g0007a0044c0060t0001g0095 | 2 | HG02486.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4183+4821A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458886 | ||||||
| chr22:46458948
|
A | G | 9 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(6): Show | 9 | HG00741.hp2 HG01081.hp1 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+4759T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46458948 | ||||||
| chr22:46459038
|
G | T | 38 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(35): Show | 38 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.4183+4669C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459038 | ||||||
| chr22:46459055
|
G | GTTAA | 15 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0082others(12): Show | 15 | HG00741.hp2 HG01081.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.4183+4651_4183+465 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459055 | ||||||
| chr22:46459082
|
G | C | 1 | a0001c0002t0001g0014 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.4183+4625C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459082 | ||||||
| chr22:46459089
|
C | T | 11 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(8): Show | 11 | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.4183+4618G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459089 | ||||||
| chr22:46459378
|
C | T | 8 | a0002c0016t0003g0025a0002c0051t0003g0053a0005c0019t0001g0024others(5): Show | 8 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.4183+4329G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459378 | ||||||
| chr22:46459425
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(34): Show | 37 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.4183+4282T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459425 | ||||||
| chr22:46459432
|
G | A | 2 | a0011c0011t0002g0011a0041c0066t0002g0103 | 2 | HG02258.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4183+4275C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459432 | ||||||
| chr22:46459741
|
C | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4183+3966G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459741 | ||||||
| chr22:46459846
|
G | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4183+3861C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459846 | ||||||
| chr22:46459911
|
A | G | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4183+3796T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46459911 | ||||||
| chr22:46460099
|
C | T | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4183+3608G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460099 | ||||||
| chr22:46460120
|
G | A | 1 | a0025c0024t0001g0046 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.4183+3587C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460120 | ||||||
| chr22:46460178
|
A | AAC | 4 | a0002c0016t0003g0025a0030c0036t0001g0076a0042c0061t0002g0097others(1): Show | 4 | HG01496.hp2 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.4183+3527_4183+352 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460178 | ||||||
| chr22:46460178
|
A | AACAC | 3 | a0001c0002t0001g0017a0003c0005t0002g0065a0019c0041t0010g0068 | 3 | HG00741.hp1 HG01106.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.4183+3525_4183+352 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460178 | ||||||
| chr22:46460178
|
AAC | A | 7 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0028t0001g0079others(4): Show | 7 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.4183+3527_4183+352 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460178 | ||||||
| chr22:46460178
|
AACACACA others(3): Show |
A | 1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4183+3519_4183+352 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460178 | ||||||
| chr22:46460205
|
A | ACACCCAC others(3): Show |
2 | a0001c0002t0001g0015a0009c0054t0001g0089 | 2 | HG01258.hp2 HG02027.hp2 |
intron_variant | MODIFIER | c.4183+3501_4183+350 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460205 | ||||||
| chr22:46460205
|
A | ACC | 3 | a0007c0013t0001g0023a0026c0038t0008g0026a0043c0058t0004g0096 | 3 | HG00642.hp2 HG02922.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4183+3501_4183+350 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460205 | ||||||
| chr22:46460205
|
A | ACCCACAC others(1): Show |
31 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(28): Show | 31 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.4183+3501_4183+350 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460205 | ||||||
| chr22:46460209
|
A | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(2): Show | 5 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4183+3498T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460209 | ||||||
| chr22:46460211
|
A | ACACACAC others(13): Show |
1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4183+3495_4183+349 others(24): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACACACAC others(3): Show |
1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4183+3495_4183+349 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACACACC | 8 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(5): Show | 8 | HG00609.hp2 HG02083.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.4183+3490_4183+349 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACACACCC others(1): Show |
2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACACC | 2 | a0003c0005t0002g0036a0039c0068t0001g0102 | 2 | NA20129.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACACCCC | 2 | a0044c0060t0001g0095a0045c0059t0001g0094 | 2 | HG02630.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACC | 8 | a0001c0029t0001g0038a0001c0034t0001g0058a0025c0024t0001g0046others(5): Show | 8 | HG00099.hp1 HG00735.hp2 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACCCACAC others(7): Show |
2 | a0001c0031t0001g0047a0006c0026t0001g0048 | 2 | HG00099.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(18): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | ACCCC | 10 | a0001c0001t0011g0028a0001c0006t0001g0044a0001c0006t0001g0064others(7): Show | 10 | HG02129.hp2 HG02132.hp1 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.4183+3495_4183+349 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460211
|
A | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(43): Show | 46 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.4183+3496T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460211 | ||||||
| chr22:46460251
|
G | C | 2 | a0032c0018t0002g0021a0050c0070t0007g0003 | 2 | HG03471.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.4183+3456C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460251 | ||||||
| chr22:46460306
|
C | A | 67 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(64): Show | 67 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.4183+3401G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460306 | ||||||
| chr22:46460438
|
G | GAAAA | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4183+3268_4183+326 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460438 | ||||||
| chr22:46460447
|
G | C | 7 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(4): Show | 7 | HG00609.hp2 HG00735.hp2 HG02027.hp2 others(4): Show |
intron_variant | MODIFIER | c.4183+3260C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460447 | ||||||
| chr22:46460586
|
G | A | 39 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.4183+3121C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460586 | ||||||
| chr22:46460655
|
C | T | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4183+3052G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460655 | ||||||
| chr22:46460729
|
G | A | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4183+2978C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460729 | ||||||
| chr22:46460745
|
G | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(6): Show | 9 | HG00099.hp1 HG00609.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+2962C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460745 | ||||||
| chr22:46460768
|
C | T | 26 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(23): Show | 26 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(23): Show |
intron_variant | MODIFIER | c.4183+2939G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460768 | ||||||
| chr22:46460774
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4183+2933C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460774 | ||||||
| chr22:46460909
|
T | A | 39 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.4183+2798A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460909 | ||||||
| chr22:46460949
|
G | A | 25 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(22): Show | 25 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(22): Show |
intron_variant | MODIFIER | c.4183+2758C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460949 | ||||||
| chr22:46460970
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.4183+2737C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46460970 | ||||||
| chr22:46461030
|
T | C | 13 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(10): Show | 13 | HG00099.hp1 HG00609.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.4183+2677A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461030 | ||||||
| chr22:46461419
|
A | C | 28 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(25): Show | 28 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.4183+2288T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461419 | ||||||
| chr22:46461464
|
C | T | 2 | a0011c0011t0002g0011a0049c0062t0013g0100 | 2 | HG02258.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4183+2243G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461464 | ||||||
| chr22:46461506
|
G | A | 39 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.4183+2201C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461506 | ||||||
| chr22:46461520
|
A | C | 2 | a0003c0015t0001g0022a0010c0069t0005g0001 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4183+2187T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461520 | ||||||
| chr22:46461589
|
T | G | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.4183+2118A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461589 | ||||||
| chr22:46461637
|
A | G | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4183+2070T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461637 | ||||||
| chr22:46461661
|
A | G | 30 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(27): Show | 30 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(27): Show |
intron_variant | MODIFIER | c.4183+2046T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461661 | ||||||
| chr22:46461668
|
G | C | 2 | a0023c0042t0002g0054a0047c0063t0003g0099 | 2 | HG03471.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4183+2039C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461668 | ||||||
| chr22:46461687
|
G | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4183+2020C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461687 | ||||||
| chr22:46461732
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4183+1975C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461732 | ||||||
| chr22:46461778
|
C | T | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4183+1929G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461778 | ||||||
| chr22:46461808
|
G | A | 74 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(71): Show | 74 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(71): Show |
intron_variant | MODIFIER | c.4183+1899C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461808 | ||||||
| chr22:46461845
|
A | G | 72 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(69): Show | 72 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.4183+1862T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461845 | ||||||
| chr22:46461956
|
A | G | 9 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(6): Show | 9 | HG00099.hp1 HG00609.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+1751T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46461956 | ||||||
| chr22:46462014
|
G | A | 14 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(11): Show | 14 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4183+1693C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462014 | ||||||
| chr22:46462081
|
G | A | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4183+1626C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462081 | ||||||
| chr22:46462186
|
G | T | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.4183+1521C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462186 | ||||||
| chr22:46462421
|
CCTCT | C | 7 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(4): Show | 7 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.4183+1282_4183+128 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462421 | ||||||
| chr22:46462443
|
C | T | 1 | a0009c0054t0001g0089 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.4183+1264G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462443 | ||||||
| chr22:46462445
|
C | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0077others(6): Show | 9 | HG00099.hp1 HG00609.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+1262G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462445 | ||||||
| chr22:46462535
|
C | T | 2 | a0001c0031t0001g0047a0006c0026t0001g0048 | 2 | HG00099.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.4183+1172G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462535 | ||||||
| chr22:46462645
|
C | CA | 4 | a0001c0034t0001g0058a0001c0039t0001g0073a0011c0011t0002g0011others(1): Show | 4 | HG01496.hp1 HG02258.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.4183+1061dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462645 | ||||||
| chr22:46462645
|
CAAA | C | 29 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0074others(26): Show | 29 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.4183+1059_4183+106 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462645 | ||||||
| chr22:46462645
|
CAAAA | C | 39 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.4183+1058_4183+106 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462645 | ||||||
| chr22:46462713
|
C | T | 1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4183+994G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462713 | ||||||
| chr22:46462790
|
G | A | 72 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(69): Show | 72 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.4183+917C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462790 | ||||||
| chr22:46462912
|
G | A | 13 | a0001c0001t0011g0028a0001c0006t0001g0044a0001c0006t0001g0064others(10): Show | 13 | HG02129.hp2 HG02132.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.4183+795C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46462912 | ||||||
| chr22:46463106
|
G | C | 53 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(50): Show | 53 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.4183+601C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463106 | ||||||
| chr22:46463178
|
T | G | 9 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(6): Show | 9 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.4183+529A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463178 | ||||||
| chr22:46463184
|
G | A | 3 | a0002c0051t0003g0053a0024c0021t0001g0061a0049c0062t0013g0100 | 3 | HG02647.hp1 HG02976.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4183+523C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463184 | ||||||
| chr22:46463214
|
G | T | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.4183+493C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463214 | ||||||
| chr22:46463240
|
A | G | 72 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(69): Show | 72 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.4183+467T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463240 | ||||||
| chr22:46463266
|
T | A | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.4183+441A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463266 | ||||||
| chr22:46463399
|
C | A | 2 | a0001c0006t0001g0064a0022c0050t0001g0055 | 2 | HG02145.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.4183+308G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463399 | ||||||
| chr22:46463408
|
C | T | 72 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(69): Show | 72 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.4183+299G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463408 | ||||||
| chr22:46463522
|
T | TA | 48 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(45): Show | 48 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.4183+184dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463522 | ||||||
| chr22:46463522
|
T | TAAA | 14 | a0001c0001t0011g0028a0001c0006t0001g0044a0001c0006t0001g0064others(11): Show | 14 | HG02129.hp2 HG02132.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.4183+182_4183+184d others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463522 | ||||||
| chr22:46463616
|
G | A | 1 | a0001c0002t0001g0015 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.4183+91C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | 46463616 | ||||||
| chr22:46464384
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-39G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464384 | ||||||
| chr22:46464417
|
G | A | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3545-72C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464417 | ||||||
| chr22:46464419
|
G | A | 6 | a0005c0048t0001g0080a0017c0020t0002g0020a0018c0046t0001g0030others(3): Show | 6 | HG02145.hp1 HG02486.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.3545-74C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464419 | ||||||
| chr22:46464419
|
G | T | 10 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(7): Show | 10 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.3545-74C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464419 | ||||||
| chr22:46464675
|
C | T | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-330G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464675 | ||||||
| chr22:46464827
|
G | A | 7 | a0005c0048t0001g0080a0016c0047t0001g0035a0017c0020t0002g0020others(4): Show | 7 | HG02145.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.3545-482C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464827 | ||||||
| chr22:46464975
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.3545-630C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46464975 | ||||||
| chr22:46465064
|
G | A | 8 | a0005c0048t0001g0080a0016c0047t0001g0035a0017c0020t0002g0020others(5): Show | 8 | HG01496.hp2 HG02145.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.3545-719C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465064 | ||||||
| chr22:46465194
|
C | T | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-849G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465194 | ||||||
| chr22:46465217
|
G | A | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-872C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465217 | ||||||
| chr22:46465302
|
CCCCACCC others(3): Show |
C | 50 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(47): Show | 50 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.3545-967_3545-958d others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465302 | ||||||
| chr22:46465871
|
G | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-1526C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465871 | ||||||
| chr22:46465906
|
G | A | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-1561C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465906 | ||||||
| chr22:46465942
|
C | T | 3 | a0005c0019t0001g0024a0015c0045t0001g0062a0036c0056t0001g0092 | 3 | HG01109.hp1 HG02055.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.3545-1597G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46465942 | ||||||
| chr22:46466436
|
A | G | 2 | a0039c0068t0001g0102a0041c0066t0002g0103 | 2 | HG03579.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3545-2091T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466436 | ||||||
| chr22:46466466
|
C | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-2121G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466466 | ||||||
| chr22:46466496
|
A | G | 3 | a0005c0048t0001g0080a0040c0067t0009g0104a0041c0066t0002g0103 | 3 | HG02486.hp2 HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-2151T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466496 | ||||||
| chr22:46466615
|
G | A | 38 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(35): Show | 38 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.3545-2270C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466615 | ||||||
| chr22:46466646
|
G | A | 2 | a0005c0048t0001g0080a0040c0067t0009g0104 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-2301C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466646 | ||||||
| chr22:46466719
|
C | T | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-2374G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466719 | ||||||
| chr22:46466730
|
A | C | 1 | a0025c0024t0001g0046 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3545-2385T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466730 | ||||||
| chr22:46466737
|
G | A | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3545-2392C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466737 | ||||||
| chr22:46466872
|
C | T | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-2527G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466872 | ||||||
| chr22:46466961
|
AGCCAGGA others(30): Show |
A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3545-2653_3545-261 others(41): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466961 | ||||||
| chr22:46466969
|
A | AAACAAAG others(8): Show |
1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3545-2639_3545-262 others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466969 | ||||||
| chr22:46466995
|
T | C | 51 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(48): Show | 51 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(48): Show |
intron_variant | MODIFIER | c.3545-2650A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46466995 | ||||||
| chr22:46467034
|
G | A | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-2689C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467034 | ||||||
| chr22:46467046
|
G | A | 47 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(44): Show | 47 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3545-2701C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467046 | ||||||
| chr22:46467095
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3545-2750G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467095 | ||||||
| chr22:46467126
|
A | AATAAATT others(12): Show |
1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3545-2800_3545-278 others(23): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467126 | ||||||
| chr22:46467165
|
C | T | 1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3545-2820G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467165 | ||||||
| chr22:46467201
|
T | C | 2 | a0001c0001t0001g0045a0009c0054t0001g0089 | 2 | HG00639.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.3545-2856A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467201 | ||||||
| chr22:46467422
|
C | T | 43 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.3545-3077G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467422 | ||||||
| chr22:46467461
|
G | GTGATCCC others(15): Show |
1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-3138_3545-311 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467461 | ||||||
| chr22:46467481
|
G | A | 43 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.3545-3136C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467481 | ||||||
| chr22:46467499
|
C | T | 3 | a0005c0048t0001g0080a0040c0067t0009g0104a0050c0070t0007g0003 | 3 | HG02486.hp2 HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-3154G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467499 | ||||||
| chr22:46467507
|
TTA | T | 21 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(18): Show | 21 | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(18): Show |
intron_variant | MODIFIER | c.3545-3164_3545-316 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467507 | ||||||
| chr22:46467507
|
TTATA | T | 8 | a0002c0051t0003g0053a0005c0019t0001g0024a0006c0017t0001g0018others(5): Show | 8 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.3545-3166_3545-316 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467507 | ||||||
| chr22:46467522
|
T | C | 2 | a0001c0001t0001g0072a0001c0039t0001g0073 | 2 | HG01496.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3545-3177A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467522 | ||||||
| chr22:46467524
|
T | G | 1 | a0001c0002t0001g0015 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.3545-3179A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467524 | ||||||
| chr22:46467549
|
G | A | 43 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.3545-3204C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467549 | ||||||
| chr22:46467606
|
AGTTCAGG others(4): Show |
A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-3272_3545-326 others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467606 | ||||||
| chr22:46467714
|
CAGGAG | C | 2 | a0005c0019t0001g0024a0015c0045t0001g0062 | 2 | HG01109.hp1 HG02055.hp1 |
intron_variant | MODIFIER | c.3545-3374_3545-337 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467714 | ||||||
| chr22:46467800
|
C | T | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-3455G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467800 | ||||||
| chr22:46467876
|
T | C | 42 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(39): Show | 42 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.3545-3531A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467876 | ||||||
| chr22:46467894
|
C | G | 47 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(44): Show | 47 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3545-3549G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467894 | ||||||
| chr22:46467963
|
A | G | 4 | a0002c0051t0003g0053a0005c0019t0001g0024a0015c0045t0001g0062others(1): Show | 4 | HG01109.hp1 HG02055.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-3618T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467963 | ||||||
| chr22:46467971
|
G | GGTTGCTA others(8): Show |
1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3545-3627_3545-362 others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467971 | ||||||
| chr22:46467986
|
T | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(43): Show | 46 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.3545-3641A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46467986 | ||||||
| chr22:46468057
|
AAGTGACC others(59): Show |
A | 1 | a0014c0055t0001g0091 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3545-3778_3545-371 others(70): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468057 | ||||||
| chr22:46468068
|
G | A | 4 | a0006c0017t0001g0018a0039c0068t0001g0102a0041c0066t0002g0103others(1): Show | 4 | HG01261.hp1 HG03579.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3545-3723C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468068 | ||||||
| chr22:46468098
|
T | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(43): Show | 46 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.3545-3753A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468098 | ||||||
| chr22:46468105
|
T | C | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.3545-3760A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468105 | ||||||
| chr22:46468138
|
A | C | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-3793T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468138 | ||||||
| chr22:46468146
|
G | A | 47 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(44): Show | 47 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3545-3801C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468146 | ||||||
| chr22:46468172
|
C | A | 4 | a0002c0051t0003g0053a0005c0019t0001g0024a0015c0045t0001g0062others(1): Show | 4 | HG01109.hp1 HG02055.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-3827G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468172 | ||||||
| chr22:46468198
|
C | T | 11 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(8): Show | 11 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(8): Show |
intron_variant | MODIFIER | c.3545-3853G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468198 | ||||||
| chr22:46468231
|
CA | C | 2 | a0001c0002t0001g0014a0006c0017t0001g0018 | 2 | HG01261.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.3545-3887delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468231 | ||||||
| chr22:46468251
|
T | C | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-3906A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468251 | ||||||
| chr22:46468258
|
T | C | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-3913A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468258 | ||||||
| chr22:46468279
|
G | A | 47 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(44): Show | 47 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3545-3934C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468279 | ||||||
| chr22:46468308
|
C | T | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-3963G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468308 | ||||||
| chr22:46468337
|
G | C | 1 | a0001c0029t0001g0038 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3545-3992C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468337 | ||||||
| chr22:46468385
|
C | CA | 7 | a0001c0006t0001g0044a0002c0012t0003g0012a0005c0048t0001g0080others(4): Show | 7 | HG02129.hp2 HG02486.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.3545-4041dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468385 | ||||||
| chr22:46468385
|
C | CAA | 8 | a0001c0002t0001g0013a0001c0006t0001g0064a0006c0017t0001g0018others(5): Show | 8 | HG01261.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.3545-4042_3545-404 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468385 | ||||||
| chr22:46468385
|
C | CAAA | 15 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(12): Show | 15 | HG00621.hp1 HG00735.hp1 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.3545-4043_3545-404 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468385 | ||||||
| chr22:46468385
|
CA | C | 47 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(44): Show | 47 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3545-4041delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468385 | ||||||
| chr22:46468409
|
A | T | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-4064T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468409 | ||||||
| chr22:46468511
|
C | T | 2 | a0005c0019t0001g0024a0015c0045t0001g0062 | 2 | HG01109.hp1 HG02055.hp1 |
intron_variant | MODIFIER | c.3545-4166G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468511 | ||||||
| chr22:46468545
|
C | T | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-4200G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468545 | ||||||
| chr22:46468550
|
G | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-4205C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468550 | ||||||
| chr22:46468568
|
G | A | 46 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(43): Show | 46 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.3545-4223C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468568 | ||||||
| chr22:46468646
|
T | C | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-4301A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468646 | ||||||
| chr22:46468720
|
A | G | 5 | a0006c0017t0001g0018a0032c0018t0002g0021a0039c0068t0001g0102others(2): Show | 5 | HG01261.hp1 HG03471.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-4375T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468720 | ||||||
| chr22:46468732
|
T | C | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-4387A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468732 | ||||||
| chr22:46468734
|
A | T | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-4389T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468734 | ||||||
| chr22:46468842
|
G | A | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0042c0061t0002g0097 | 3 | HG01496.hp2 HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3545-4497C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468842 | ||||||
| chr22:46468891
|
A | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-4546T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468891 | ||||||
| chr22:46468926
|
G | A | 51 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(48): Show | 51 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(48): Show |
intron_variant | MODIFIER | c.3545-4581C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46468926 | ||||||
| chr22:46469034
|
C | T | 5 | a0006c0017t0001g0018a0032c0018t0002g0021a0039c0068t0001g0102others(2): Show | 5 | HG01261.hp1 HG03471.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-4689G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469034 | ||||||
| chr22:46469080
|
T | C | 93 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.3545-4735A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469080 | ||||||
| chr22:46469081
|
A | C | 1 | a0001c0025t0001g0070 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3545-4736T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469081 | ||||||
| chr22:46469113
|
C | T | 2 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | HG02647.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-4768G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469113 | ||||||
| chr22:46469241
|
C | T | 52 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(49): Show | 52 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-4896G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469241 | ||||||
| chr22:46469298
|
G | A | 2 | a0005c0019t0001g0024a0015c0045t0001g0062 | 2 | HG01109.hp1 HG02055.hp1 |
intron_variant | MODIFIER | c.3545-4953C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469298 | ||||||
| chr22:46469339
|
G | A | 2 | a0005c0048t0001g0080a0040c0067t0009g0104 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-4994C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469339 | ||||||
| chr22:46469513
|
G | T | 71 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(68): Show | 71 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.3545-5168C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469513 | ||||||
| chr22:46469517
|
G | T | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-5172C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469517 | ||||||
| chr22:46469534
|
G | C | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-5189C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469534 | ||||||
| chr22:46469645
|
A | G | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-5300T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469645 | ||||||
| chr22:46469702
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3545-5357G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469702 | ||||||
| chr22:46469806
|
A | G | 52 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(49): Show | 52 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-5461T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469806 | ||||||
| chr22:46469808
|
C | T | 5 | a0006c0017t0001g0018a0032c0018t0002g0021a0039c0068t0001g0102others(2): Show | 5 | HG01261.hp1 HG03471.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-5463G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469808 | ||||||
| chr22:46469894
|
TC | T | 2 | a0001c0002t0001g0014a0001c0004t0001g0057 | 2 | HG01515.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.3545-5550delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469894 | ||||||
| chr22:46469899
|
CTGCATCC others(27): Show |
C | 1 | a0001c0001t0014g0060 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3545-5588_3545-555 others(38): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469899 | ||||||
| chr22:46469904
|
T | C | 51 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(48): Show | 51 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(48): Show |
intron_variant | MODIFIER | c.3545-5559A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469904 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2332): Show |
1 | a0001c0004t0001g0057 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2343): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1895): Show |
1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1906): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2355): Show |
1 | a0001c0001t0001g0081 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2366): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(4082): Show |
1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(4093): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(4072): Show |
1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(4083): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(4129): Show |
1 | a0005c0019t0001g0024 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(4140): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(3486): Show |
1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(3497): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2339): Show |
1 | a0021c0030t0001g0033 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2350): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2919): Show |
1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2930): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(3022): Show |
1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(3033): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2316): Show |
1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2327): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2335): Show |
1 | a0001c0027t0001g0040 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2346): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2356): Show |
1 | a0001c0001t0001g0071 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2367): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2332): Show |
1 | a0006c0026t0001g0048 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2343): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2319): Show |
1 | a0014c0055t0001g0091 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2330): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2337): Show |
1 | a0001c0001t0001g0043 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2348): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
1 | a0008c0014t0002g0016 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2295): Show |
1 | a0036c0056t0001g0092 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2306): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2337): Show |
1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2348): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2319): Show |
1 | a0013c0010t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2330): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2337): Show |
1 | a0001c0002t0001g0015 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2348): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2337): Show |
1 | a0001c0031t0001g0047 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2348): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2337): Show |
1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2348): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2299): Show |
1 | a0009c0054t0001g0089 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2310): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2299): Show |
1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2310): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2299): Show |
1 | a0001c0002t0001g0019 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2310): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2314): Show |
1 | a0001c0001t0001g0067 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2325): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2320): Show |
1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2331): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
1 | a0001c0004t0001g0032 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2318): Show |
1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2329): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2341): Show |
1 | a0001c0029t0001g0038 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2352): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2295): Show |
1 | a0003c0015t0001g0022 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2306): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2299): Show |
1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2310): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2341): Show |
1 | a0001c0001t0001g0041 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2352): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1951): Show |
1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1962): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1809): Show |
1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1820): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1855): Show |
6 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0078others(3): Show | 6 | HG00621.hp1 HG01258.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-5630_3545-562 others(1866): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1850): Show |
1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1861): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2316): Show |
1 | a0004c0003t0001g0008 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2327): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2267): Show |
1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2278): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2319): Show |
1 | a0001c0002t0001g0014 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2330): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2095): Show |
1 | a0019c0041t0010g0068 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2106): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2092): Show |
1 | a0003c0005t0002g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2103): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1841): Show |
1 | a0001c0001t0001g0072 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1852): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1880): Show |
1 | a0001c0039t0001g0073 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1891): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2129): Show |
1 | a0001c0034t0001g0058 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2140): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(4151): Show |
1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(4162): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2353): Show |
1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2364): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2296): Show |
1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2307): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2104): Show |
1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2115): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2103): Show |
1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2114): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1979): Show |
1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1990): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2013): Show |
1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2024): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1998): Show |
1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2009): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2048): Show |
1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2059): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2055): Show |
1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2066): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2120): Show |
1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2131): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2133): Show |
1 | a0001c0044t0001g0027 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2144): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2115): Show |
2 | a0001c0001t0001g0049a0001c0001t0001g0077 | 2 | NA19066.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.3545-5630_3545-562 others(2126): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2086): Show |
1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2097): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2133): Show |
1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2144): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2134): Show |
1 | a0001c0001t0001g0085 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2145): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2155): Show |
1 | a0027c0052t0001g0031 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2166): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2134): Show |
1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2145): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2133): Show |
1 | a0002c0012t0003g0012 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2144): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2134): Show |
3 | a0025c0024t0001g0046a0028c0049t0001g0086a0046c0065t0002g0101 | 3 | HG00099.hp1 HG02976.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3545-5630_3545-562 others(2145): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2119): Show |
2 | a0001c0001t0016g0069a0004c0003t0015g0010 | 2 | HG02735.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.3545-5630_3545-562 others(2130): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2138): Show |
1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2149): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2113): Show |
1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2124): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2135): Show |
1 | a0001c0001t0001g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2146): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2062): Show |
1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2073): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2135): Show |
1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2146): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1901): Show |
1 | a0001c0028t0001g0079 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1912): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1893): Show |
1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1904): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1912): Show |
1 | a0001c0002t0001g0013 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1923): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1954): Show |
1 | a0001c0006t0001g0064 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1965): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(1912): Show |
1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(1923): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469974
|
A | AGGGAGGA others(2044): Show |
1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3545-5630_3545-562 others(2055): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469974 | ||||||
| chr22:46469978
|
A | AGGGAGGA others(2391): Show |
1 | a0001c0001t0014g0060 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3545-5634_3545-563 others(2402): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469978 | ||||||
| chr22:46469984
|
A | AGGGGAGG others(1556): Show |
1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-5640_3545-563 others(1567): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469984 | ||||||
| chr22:46469984
|
A | AGGGGAGG others(2301): Show |
1 | a0007c0013t0001g0023 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3545-5640_3545-563 others(2312): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469984 | ||||||
| chr22:46469984
|
A | AGGGGAGG others(2320): Show |
1 | a0001c0025t0001g0070 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3545-5640_3545-563 others(2331): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469984 | ||||||
| chr22:46469984
|
A | AGGGGAGG others(2114): Show |
1 | a0033c0035t0002g0066 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3545-5640_3545-563 others(2125): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469984 | ||||||
| chr22:46469985
|
G | GGGGAGGG others(1965): Show |
1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3545-5641_3545-564 others(1976): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469985 | ||||||
| chr22:46469991
|
G | GGAGGGAG others(2105): Show |
1 | a0030c0036t0001g0076 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.3545-5647_3545-564 others(2116): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469991 | ||||||
| chr22:46469993
|
A | AGGGAGGA others(2341): Show |
1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3545-5649_3545-564 others(2352): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469993 | ||||||
| chr22:46469994
|
G | GGGAGGAG others(2350): Show |
1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-5650_3545-564 others(2361): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469994 | ||||||
| chr22:46469994
|
G | GGGAGGAT others(1883): Show |
1 | a0001c0001t0001g0084 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.3545-5650_3545-564 others(1894): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469994 | ||||||
| chr22:46469997
|
A | AGGATGAG others(2308): Show |
1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-5653_3545-565 others(2319): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469997 | ||||||
| chr22:46469999
|
G | GAGGAGGG others(2316): Show |
1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3545-5655_3545-565 others(2327): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46469999 | ||||||
| chr22:46470001
|
A | G | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3545-5656T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470001 | ||||||
| chr22:46470003
|
A | C | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3545-5658T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470003 | ||||||
| chr22:46470013
|
G | C | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-5668C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470013 | ||||||
| chr22:46470015
|
C | A | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-5670G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470015 | ||||||
| chr22:46470017
|
G | C | 1 | a0030c0036t0001g0076 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.3545-5672C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470017 | ||||||
| chr22:46470064
|
A | T | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3545-5719T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470064 | ||||||
| chr22:46470094
|
G | C | 1 | a0001c0025t0001g0070 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3545-5749C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470094 | ||||||
| chr22:46470097
|
A | AT | 4 | a0001c0001t0001g0084a0035c0057t0001g0093a0039c0068t0001g0102others(1): Show | 4 | HG00741.hp2 NA19030.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3545-5753dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470097 | ||||||
| chr22:46470117
|
C | CT | 15 | a0001c0001t0001g0051a0001c0001t0001g0063a0001c0001t0001g0074others(12): Show | 15 | HG00621.hp1 HG00735.hp1 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.3545-5773dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470117 | ||||||
| chr22:46470117
|
C | G | 1 | a0001c0002t0001g0014 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3545-5772G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470117 | ||||||
| chr22:46470117
|
C | T | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-5772G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470117 | ||||||
| chr22:46470118
|
T | C | 1 | a0001c0002t0001g0014 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3545-5773A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470118 | ||||||
| chr22:46470153
|
T | A | 1 | a0001c0034t0001g0058 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3545-5808A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470153 | ||||||
| chr22:46470154
|
A | AG | 3 | a0006c0017t0001g0018a0011c0011t0002g0011a0019c0041t0010g0068 | 3 | HG01261.hp1 HG02258.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.3545-5810dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470154 | ||||||
| chr22:46470154
|
A | C | 1 | a0001c0034t0001g0058 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3545-5809T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470154 | ||||||
| chr22:46470174
|
G | A | 25 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(22): Show | 25 | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3545-5829C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470174 | ||||||
| chr22:46470241
|
C | T | 3 | a0005c0019t0001g0024a0015c0045t0001g0062a0050c0070t0007g0003 | 3 | HG01109.hp1 HG02055.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-5896G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470241 | ||||||
| chr22:46470342
|
C | T | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-5997G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470342 | ||||||
| chr22:46470411
|
TG | T | 3 | a0001c0004t0001g0032a0006c0017t0001g0018a0008c0033t0002g0050 | 3 | HG00639.hp2 HG01261.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.3545-6067delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470411 | ||||||
| chr22:46470421
|
C | A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-6076G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470421 | ||||||
| chr22:46470451
|
G | A | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3545-6106C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470451 | ||||||
| chr22:46470539
|
C | T | 4 | a0005c0019t0001g0024a0015c0045t0001g0062a0036c0056t0001g0092others(1): Show | 4 | HG01109.hp1 HG02055.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-6194G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470539 | ||||||
| chr22:46470564
|
C | T | 43 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.3545-6219G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470564 | ||||||
| chr22:46470739
|
T | G | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-6394A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470739 | ||||||
| chr22:46470751
|
G | A | 3 | a0005c0019t0001g0024a0015c0045t0001g0062a0050c0070t0007g0003 | 3 | HG01109.hp1 HG02055.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-6406C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470751 | ||||||
| chr22:46470763
|
A | G | 1 | a0001c0039t0001g0073 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3545-6418T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470763 | ||||||
| chr22:46470841
|
C | G | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-6496G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46470841 | ||||||
| chr22:46471212
|
C | T | 2 | a0005c0048t0001g0080a0040c0067t0009g0104 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-6867G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471212 | ||||||
| chr22:46471309
|
A | T | 7 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(4): Show | 7 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-6964T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471309 | ||||||
| chr22:46471362
|
C | T | 2 | a0006c0017t0001g0018a0032c0018t0002g0021 | 2 | HG01261.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.3545-7017G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471362 | ||||||
| chr22:46471385
|
T | C | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-7040A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471385 | ||||||
| chr22:46471397
|
T | C | 2 | a0005c0048t0001g0080a0040c0067t0009g0104 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-7052A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471397 | ||||||
| chr22:46471651
|
C | G | 6 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(3): Show | 6 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-7306G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471651 | ||||||
| chr22:46471673
|
G | A | 4 | a0001c0001t0016g0069a0004c0003t0015g0010a0008c0033t0002g0050others(1): Show | 4 | HG00639.hp2 HG02735.hp2 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-7328C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471673 | ||||||
| chr22:46471797
|
T | C | 7 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(4): Show | 7 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-7452A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471797 | ||||||
| chr22:46471806
|
C | T | 6 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(3): Show | 6 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-7461G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471806 | ||||||
| chr22:46471812
|
C | G | 6 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(3): Show | 6 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-7467G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471812 | ||||||
| chr22:46471845
|
C | T | 3 | a0006c0017t0001g0018a0032c0018t0002g0021a0049c0062t0013g0100 | 3 | HG01261.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3545-7500G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471845 | ||||||
| chr22:46471870
|
T | C | 1 | a0001c0001t0011g0028 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3545-7525A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46471870 | ||||||
| chr22:46472061
|
G | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-7716C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472061 | ||||||
| chr22:46472071
|
G | A | 8 | a0005c0019t0001g0024a0005c0048t0001g0080a0006c0017t0001g0018others(5): Show | 8 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.3545-7726C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472071 | ||||||
| chr22:46472167
|
C | T | 7 | a0005c0019t0001g0024a0006c0017t0001g0018a0015c0045t0001g0062others(4): Show | 7 | HG01109.hp1 HG01261.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-7822G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472167 | ||||||
| chr22:46472241
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-7896A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472241 | ||||||
| chr22:46472384
|
C | T | 74 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(71): Show | 74 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.3545-8039G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472384 | ||||||
| chr22:46472477
|
G | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-8132C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472477 | ||||||
| chr22:46472531
|
T | C | 3 | a0003c0015t0001g0022a0007c0013t0001g0023a0026c0038t0008g0026 | 3 | HG00642.hp2 NA20129.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3545-8186A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472531 | ||||||
| chr22:46472604
|
A | T | 1 | a0003c0005t0002g0036 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3545-8259T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472604 | ||||||
| chr22:46472633
|
G | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-8288C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472633 | ||||||
| chr22:46472766
|
T | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(41): Show | 44 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.3545-8421A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472766 | ||||||
| chr22:46472773
|
C | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-8428G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472773 | ||||||
| chr22:46472794
|
G | C | 67 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(64): Show | 67 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.3545-8449C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472794 | ||||||
| chr22:46472809
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-8464C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472809 | ||||||
| chr22:46472888
|
G | A | 2 | a0005c0048t0001g0080a0040c0067t0009g0104 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3545-8543C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472888 | ||||||
| chr22:46472906
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3545-8561G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46472906 | ||||||
| chr22:46473116
|
C | T | 16 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(13): Show | 16 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3545-8771G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473116 | ||||||
| chr22:46473162
|
G | T | 45 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(42): Show | 45 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.3545-8817C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473162 | ||||||
| chr22:46473177
|
C | T | 19 | a0001c0029t0001g0038a0002c0016t0003g0025a0002c0051t0003g0053others(16): Show | 19 | HG00642.hp2 HG01261.hp1 HG01496.hp2 others(16): Show |
intron_variant | MODIFIER | c.3545-8832G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473177 | ||||||
| chr22:46473273
|
G | A | 15 | a0001c0001t0001g0043a0001c0001t0001g0072a0001c0001t0001g0084others(12): Show | 15 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.3545-8928C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473273 | ||||||
| chr22:46473514
|
G | A | 18 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(15): Show | 18 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.3545-9169C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473514 | ||||||
| chr22:46473531
|
C | A | 5 | a0001c0029t0001g0038a0011c0011t0002g0011a0017c0020t0002g0020others(2): Show | 5 | HG02055.hp2 HG02145.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-9186G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473531 | ||||||
| chr22:46473560
|
G | A | 28 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(25): Show | 28 | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.3545-9215C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473560 | ||||||
| chr22:46473608
|
G | A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-9263C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473608 | ||||||
| chr22:46473752
|
TGGTGGCT others(3): Show |
T | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-9417_3545-940 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473752 | ||||||
| chr22:46473804
|
C | G | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3545-9459G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473804 | ||||||
| chr22:46473947
|
G | C | 2 | a0002c0051t0003g0053a0049c0062t0013g0100 | 2 | HG02647.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3545-9602C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46473947 | ||||||
| chr22:46474280
|
C | T | 3 | a0001c0029t0001g0038a0011c0011t0002g0011a0023c0042t0002g0054 | 3 | HG02055.hp2 HG02258.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3545-9935G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474280 | ||||||
| chr22:46474370
|
C | T | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3545-10025G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474370 | ||||||
| chr22:46474433
|
C | G | 8 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(5): Show | 8 | HG00621.hp1 HG01081.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3545-10088G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474433 | ||||||
| chr22:46474447
|
G | A | 74 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(71): Show | 74 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.3545-10102C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474447 | ||||||
| chr22:46474693
|
G | A | 2 | a0001c0031t0001g0047a0006c0026t0001g0048 | 2 | HG00099.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.3545-10348C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474693 | ||||||
| chr22:46474737
|
CTCCT | C | 75 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(72): Show | 75 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.3545-10396_3545-10 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474737 | ||||||
| chr22:46474788
|
C | CTTTTT | 6 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0078others(3): Show | 6 | HG01258.hp1 HG02132.hp1 NA18612.hp2 others(3): Show |
intron_variant | MODIFIER | c.3545-10448_3545-10 others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474788
|
C | CTTTTTT | 5 | a0001c0001t0001g0063a0032c0018t0002g0021a0040c0067t0009g0104others(2): Show | 5 | HG00621.hp1 HG03471.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-10449_3545-10 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474788
|
C | CTTTTTTT | 21 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(18): Show | 21 | HG00741.hp2 HG01099.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.3545-10450_3545-10 others(13): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474788
|
C | CTTTTTTT others(1): Show |
39 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | HG00099.hp2 HG00609.hp1 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.3545-10451_3545-10 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474788
|
C | CTTTTTTT others(2): Show |
6 | a0001c0001t0001g0087a0002c0051t0003g0053a0013c0010t0001g0007others(3): Show | 6 | HG00621.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-10452_3545-10 others(15): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474788
|
C | T | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-10443G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474788 | ||||||
| chr22:46474994
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-10649G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46474994 | ||||||
| chr22:46475197
|
G | A | 28 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(25): Show | 28 | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.3545-10852C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475197 | ||||||
| chr22:46475215
|
G | A | 28 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(25): Show | 28 | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.3545-10870C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475215 | ||||||
| chr22:46475305
|
C | T | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-10960G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475305 | ||||||
| chr22:46475364
|
G | A | 12 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(9): Show | 12 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(9): Show |
intron_variant | MODIFIER | c.3545-11019C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475364 | ||||||
| chr22:46475659
|
T | TG | 44 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0049others(41): Show | 44 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.3545-11315dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475659 | ||||||
| chr22:46475659
|
T | TGG | 13 | a0001c0001t0001g0045a0001c0001t0001g0072a0001c0002t0001g0013others(10): Show | 13 | HG00639.hp1 HG00735.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-11316_3545-11 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475659 | ||||||
| chr22:46475659
|
T | TGGG | 10 | a0001c0001t0001g0037a0001c0001t0001g0056a0001c0001t0001g0059others(7): Show | 10 | HG00621.hp1 HG00741.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.3545-11317_3545-11 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475659 | ||||||
| chr22:46475713
|
T | C | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3545-11368A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475713 | ||||||
| chr22:46475757
|
A | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(43): Show | 46 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.3545-11412T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475757 | ||||||
| chr22:46475761
|
T | C | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(66): Show | 69 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.3545-11416A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475761 | ||||||
| chr22:46475806
|
A | G | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-11461T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475806 | ||||||
| chr22:46475875
|
A | C | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(66): Show | 69 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.3545-11530T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46475875 | ||||||
| chr22:46476205
|
T | C | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3545-11860A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476205 | ||||||
| chr22:46476379
|
T | C | 68 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12034A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476379 | ||||||
| chr22:46476379
|
T | G | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-12034A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476379 | ||||||
| chr22:46476427
|
C | G | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-12082G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476427 | ||||||
| chr22:46476457
|
G | A | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(66): Show | 69 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.3545-12112C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476457 | ||||||
| chr22:46476522
|
G | A | 69 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(66): Show | 69 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.3545-12177C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476522 | ||||||
| chr22:46476595
|
CA | C | 68 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0049others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12251delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476595 | ||||||
| chr22:46476595
|
CAA | C | 5 | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0004t0001g0057others(2): Show | 5 | HG00639.hp1 HG01515.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-12252_3545-12 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476595 | ||||||
| chr22:46476761
|
A | C | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-12416T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476761 | ||||||
| chr22:46476784
|
A | G | 67 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(64): Show | 67 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.3545-12439T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476784 | ||||||
| chr22:46476851
|
A | G | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12506T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476851 | ||||||
| chr22:46476862
|
C | CACA | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12520_3545-12 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46476862 | ||||||
| chr22:46477020
|
A | AG | 2 | a0001c0002t0001g0017a0015c0045t0001g0062 | 2 | HG00741.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.3545-12676dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477020 | ||||||
| chr22:46477114
|
T | C | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12769A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477114 | ||||||
| chr22:46477226
|
T | C | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12881A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477226 | ||||||
| chr22:46477332
|
A | G | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-12987T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477332 | ||||||
| chr22:46477333
|
C | A | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-12988G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477333 | ||||||
| chr22:46477392
|
C | G | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-13047G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477392 | ||||||
| chr22:46477406
|
C | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-13061G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477406 | ||||||
| chr22:46477436
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-13091C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477436 | ||||||
| chr22:46477448
|
G | A | 13 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(10): Show | 13 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-13103C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477448 | ||||||
| chr22:46477484
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3545-13139G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477484 | ||||||
| chr22:46477486
|
G | T | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-13141C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477486 | ||||||
| chr22:46477514
|
C | CTT | 7 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0074others(4): Show | 7 | HG01081.hp1 HG01258.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-13171_3545-13 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477514 | ||||||
| chr22:46477514
|
C | CTTT | 40 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.3545-13172_3545-13 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477514 | ||||||
| chr22:46477514
|
C | CTTTT | 7 | a0001c0001t0001g0037a0001c0001t0001g0087a0001c0001t0014g0060others(4): Show | 7 | HG00621.hp2 HG01255.hp1 HG01255.hp2 others(4): Show |
intron_variant | MODIFIER | c.3545-13173_3545-13 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477514 | ||||||
| chr22:46477514
|
C | CTTTTT | 10 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(7): Show | 10 | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.3545-13174_3545-13 others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477514 | ||||||
| chr22:46477514
|
CT | C | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-13170delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477514 | ||||||
| chr22:46477549
|
C | T | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-13204G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477549 | ||||||
| chr22:46477633
|
A | G | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-13288T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477633 | ||||||
| chr22:46477635
|
G | A | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3545-13290C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477635 | ||||||
| chr22:46477785
|
C | G | 4 | a0001c0001t0016g0069a0004c0003t0015g0010a0008c0033t0002g0050others(1): Show | 4 | HG00639.hp2 HG02735.hp2 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-13440G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477785 | ||||||
| chr22:46477845
|
G | A | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3545-13500C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477845 | ||||||
| chr22:46477922
|
G | A | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-13577C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477922 | ||||||
| chr22:46477943
|
G | C | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-13598C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46477943 | ||||||
| chr22:46478069
|
G | A | 1 | a0032c0018t0002g0021 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3545-13724C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478069 | ||||||
| chr22:46478129
|
A | G | 2 | a0001c0028t0001g0079a0038c0007t0001g0004 | 2 | HG00735.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.3545-13784T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478129 | ||||||
| chr22:46478143
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-13798G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478143 | ||||||
| chr22:46478325
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-13980C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478325 | ||||||
| chr22:46478523
|
G | A | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-14178C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478523 | ||||||
| chr22:46478545
|
A | AT | 6 | a0005c0019t0001g0024a0005c0048t0001g0080a0010c0069t0005g0001others(3): Show | 6 | HG02055.hp1 HG02258.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.3545-14201dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478545 | ||||||
| chr22:46478561
|
G | C | 40 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-14216C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478561 | ||||||
| chr22:46478574
|
A | G | 68 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.3545-14229T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478574 | ||||||
| chr22:46478690
|
G | A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-14345C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478690 | ||||||
| chr22:46478710
|
A | AT | 10 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0074others(7): Show | 10 | HG01081.hp1 HG01258.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.3545-14366_3545-14 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478710 | ||||||
| chr22:46478710
|
A | ATT | 57 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0049others(54): Show | 57 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.3545-14366_3545-14 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478710 | ||||||
| chr22:46478710
|
A | ATTT | 3 | a0001c0001t0001g0037a0001c0001t0001g0045a0044c0060t0001g0095 | 3 | HG00639.hp1 HG01515.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3545-14366_3545-14 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478710 | ||||||
| chr22:46478711
|
A | T | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.3545-14366T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478711 | ||||||
| chr22:46478803
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-14458G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478803 | ||||||
| chr22:46478841
|
C | A | 67 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(64): Show | 67 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.3545-14496G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46478841 | ||||||
| chr22:46479080
|
G | A | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-14735C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479080 | ||||||
| chr22:46479133
|
C | A | 2 | a0002c0051t0003g0053a0050c0070t0007g0003 | 2 | HG02647.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-14788G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479133 | ||||||
| chr22:46479338
|
C | T | 79 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(76): Show | 79 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.3545-14993G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479338 | ||||||
| chr22:46479520
|
G | A | 3 | a0001c0029t0001g0038a0011c0011t0002g0011a0023c0042t0002g0054 | 3 | HG02055.hp2 HG02258.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3545-15175C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479520 | ||||||
| chr22:46479615
|
TG | T | 59 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(56): Show | 59 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(56): Show |
intron_variant | MODIFIER | c.3545-15271delC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479615 | ||||||
| chr22:46479618
|
G | A | 2 | a0003c0015t0001g0022a0026c0038t0008g0026 | 2 | NA20129.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3545-15273C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479618 | ||||||
| chr22:46479846
|
G | A | 7 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0063others(4): Show | 7 | HG00621.hp1 HG01258.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-15501C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479846 | ||||||
| chr22:46479954
|
G | C | 64 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(61): Show | 64 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(61): Show |
intron_variant | MODIFIER | c.3545-15609C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46479954 | ||||||
| chr22:46480124
|
T | A | 6 | a0002c0012t0003g0012a0005c0019t0001g0024a0015c0045t0001g0062others(3): Show | 6 | HG01109.hp1 HG02055.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.3545-15779A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46480124 | ||||||
| chr22:46480586
|
G | A | 74 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(71): Show | 74 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(71): Show |
intron_variant | MODIFIER | c.3545-16241C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46480586 | ||||||
| chr22:46480722
|
G | A | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-16377C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46480722 | ||||||
| chr22:46480876
|
G | A | 2 | a0001c0006t0001g0064a0022c0050t0001g0055 | 2 | HG02145.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.3545-16531C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46480876 | ||||||
| chr22:46481242
|
C | CA | 73 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(70): Show | 73 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.3545-16898dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481242 | ||||||
| chr22:46481242
|
C | CAA | 13 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(10): Show | 13 | HG00099.hp2 HG01081.hp1 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-16899_3545-16 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481242 | ||||||
| chr22:46481277
|
TA | T | 21 | a0001c0001t0016g0069a0001c0002t0001g0017a0001c0034t0001g0058others(18): Show | 21 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.3545-16933delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481277 | ||||||
| chr22:46481394
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3545-17049G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481394 | ||||||
| chr22:46481492
|
G | A | 87 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.3545-17147C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481492 | ||||||
| chr22:46481629
|
G | A | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.3545-17284C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481629 | ||||||
| chr22:46481721
|
G | A | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-17376C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481721 | ||||||
| chr22:46481722
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-17377G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481722 | ||||||
| chr22:46481784
|
CT | C | 17 | a0001c0028t0001g0079a0002c0012t0003g0012a0002c0016t0003g0025others(14): Show | 17 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.3545-17440delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481784 | ||||||
| chr22:46481901
|
T | C | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-17556A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46481901 | ||||||
| chr22:46482141
|
A | G | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-17796T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482141 | ||||||
| chr22:46482230
|
C | A | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-17885G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482230 | ||||||
| chr22:46482342
|
C | G | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-17997G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482342 | ||||||
| chr22:46482355
|
C | G | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-18010G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482355 | ||||||
| chr22:46482385
|
C | G | 1 | a0022c0050t0001g0055 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3545-18040G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482385 | ||||||
| chr22:46482475
|
GAGGCAGA others(7): Show |
G | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-18144_3545-18 others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482475 | ||||||
| chr22:46482623
|
G | A | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-18278C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482623 | ||||||
| chr22:46482650
|
G | A | 4 | a0002c0016t0003g0025a0013c0010t0001g0007a0043c0058t0004g0096others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-18305C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482650 | ||||||
| chr22:46482730
|
T | C | 2 | a0042c0061t0002g0097a0050c0070t0007g0003 | 2 | HG01496.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-18385A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482730 | ||||||
| chr22:46482972
|
G | A | 2 | a0001c0001t0001g0087a0001c0006t0001g0044 | 2 | HG00621.hp2 HG02129.hp2 |
intron_variant | MODIFIER | c.3545-18627C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46482972 | ||||||
| chr22:46483025
|
C | T | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-18680G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483025 | ||||||
| chr22:46483125
|
G | A | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-18780C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483125 | ||||||
| chr22:46483336
|
A | G | 87 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.3545-18991T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483336 | ||||||
| chr22:46483365
|
T | C | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0049c0062t0013g0100 | 3 | HG02145.hp1 HG02818.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3545-19020A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483365 | ||||||
| chr22:46483380
|
C | T | 2 | a0001c0002t0001g0014a0008c0014t0002g0016 | 2 | HG02683.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3545-19035G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483380 | ||||||
| chr22:46483385
|
C | CT | 33 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0072others(30): Show | 33 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.3545-19041dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483385 | ||||||
| chr22:46483385
|
C | CTT | 29 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(26): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.3545-19042_3545-19 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483385 | ||||||
| chr22:46483385
|
C | CTTT | 8 | a0001c0001t0001g0077a0001c0001t0001g0085a0001c0001t0012g0034others(5): Show | 8 | HG00609.hp1 HG02027.hp1 HG02027.hp2 others(5): Show |
intron_variant | MODIFIER | c.3545-19043_3545-19 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483385 | ||||||
| chr22:46483385
|
CT | C | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0038c0007t0001g0004others(1): Show | 4 | HG01099.hp2 HG02258.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3545-19041delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483385 | ||||||
| chr22:46483417
|
C | A | 64 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(61): Show | 64 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.3545-19072G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483417 | ||||||
| chr22:46483535
|
C | T | 2 | a0002c0012t0003g0012a0028c0049t0001g0086 | 2 | HG02630.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3545-19190G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483535 | ||||||
| chr22:46483626
|
C | T | 86 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3545-19281G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483626 | ||||||
| chr22:46483679
|
C | G | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-19334G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483679 | ||||||
| chr22:46483726
|
A | G | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-19381T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483726 | ||||||
| chr22:46483790
|
C | A | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.3545-19445G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46483790 | ||||||
| chr22:46484035
|
G | A | 1 | a0036c0056t0001g0092 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3545-19690C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484035 | ||||||
| chr22:46484186
|
C | T | 21 | a0001c0001t0016g0069a0001c0002t0001g0017a0001c0034t0001g0058others(18): Show | 21 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.3545-19841G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484186 | ||||||
| chr22:46484293
|
G | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-19948C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484293 | ||||||
| chr22:46484352
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-20007C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484352 | ||||||
| chr22:46484421
|
G | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-20076C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484421 | ||||||
| chr22:46484429
|
T | C | 20 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(17): Show | 20 | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.3545-20084A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484429 | ||||||
| chr22:46484461
|
C | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3545-20116G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484461 | ||||||
| chr22:46484662
|
G | C | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-20317C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484662 | ||||||
| chr22:46484715
|
A | T | 1 | a0050c0070t0007g0003 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3545-20370T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46484715 | ||||||
| chr22:46485177
|
T | C | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-20832A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485177 | ||||||
| chr22:46485481
|
G | A | 30 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(27): Show | 30 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.3545-21136C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485481 | ||||||
| chr22:46485718
|
T | C | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-21373A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485718 | ||||||
| chr22:46485887
|
C | T | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.3545-21542G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485887 | ||||||
| chr22:46485929
|
C | CT | 7 | a0001c0001t0001g0075a0001c0001t0001g0084a0001c0028t0001g0079others(4): Show | 7 | HG00642.hp2 HG00735.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.3545-21585dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485929
|
CT | C | 15 | a0001c0006t0001g0064a0001c0034t0001g0058a0001c0039t0001g0073others(12): Show | 15 | HG00735.hp2 HG01496.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.3545-21585delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485929
|
CTT | C | 17 | a0001c0001t0001g0056a0001c0001t0001g0072a0001c0044t0001g0027others(14): Show | 17 | HG00099.hp1 HG00609.hp2 HG00642.hp1 others(14): Show |
intron_variant | MODIFIER | c.3545-21586_3545-21 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485929
|
CTTT | C | 11 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0063others(8): Show | 11 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.3545-21587_3545-21 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485929
|
CTTTTTT | C | 6 | a0001c0001t0016g0069a0003c0005t0002g0065a0004c0003t0015g0010others(3): Show | 6 | HG00639.hp2 HG01106.hp1 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-21590_3545-21 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485929
|
CTTTTTTT others(7): Show |
C | 30 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(27): Show | 30 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.3545-21598_3545-21 others(20): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485929 | ||||||
| chr22:46485968
|
C | T | 7 | a0001c0001t0016g0069a0001c0002t0001g0017a0003c0005t0002g0065others(4): Show | 7 | HG00639.hp2 HG00741.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.3545-21623G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485968 | ||||||
| chr22:46485972
|
T | C | 61 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.3545-21627A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46485972 | ||||||
| chr22:46486006
|
C | T | 29 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(26): Show | 29 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.3545-21661G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486006 | ||||||
| chr22:46486007
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-21662C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486007 | ||||||
| chr22:46486087
|
G | T | 39 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(36): Show | 39 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.3545-21742C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486087 | ||||||
| chr22:46486122
|
G | A | 1 | a0013c0010t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3545-21777C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486122 | ||||||
| chr22:46486141
|
G | A | 51 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(48): Show | 51 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.3545-21796C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486141 | ||||||
| chr22:46486257
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3545-21912G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486257 | ||||||
| chr22:46486263
|
T | C | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-21918A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486263 | ||||||
| chr22:46486420
|
C | T | 9 | a0001c0034t0001g0058a0001c0044t0001g0027a0002c0012t0003g0012others(6): Show | 9 | HG00099.hp1 HG00609.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.3545-22075G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486420 | ||||||
| chr22:46486568
|
C | T | 58 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(55): Show | 58 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.3545-22223G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486568 | ||||||
| chr22:46486581
|
G | A | 58 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(55): Show | 58 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.3545-22236C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486581 | ||||||
| chr22:46486646
|
C | A | 1 | a0003c0005t0002g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.3545-22301G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486646 | ||||||
| chr22:46486736
|
G | A | 58 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(55): Show | 58 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.3545-22391C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486736 | ||||||
| chr22:46486742
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3545-22397G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486742 | ||||||
| chr22:46486821
|
C | T | 1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3545-22476G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486821 | ||||||
| chr22:46486919
|
A | G | 1 | a0001c0027t0001g0040 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3545-22574T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486919 | ||||||
| chr22:46486922
|
T | A | 30 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(27): Show | 30 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.3545-22577A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46486922 | ||||||
| chr22:46487038
|
TCACTCC | T | 61 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.3545-22699_3545-22 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487038 | ||||||
| chr22:46487064
|
A | G | 58 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(55): Show | 58 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.3545-22719T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487064 | ||||||
| chr22:46487119
|
C | T | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3545-22774G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487119 | ||||||
| chr22:46487264
|
G | A | 4 | a0002c0016t0003g0025a0013c0010t0001g0007a0043c0058t0004g0096others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-22919C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487264 | ||||||
| chr22:46487278
|
C | T | 2 | a0016c0047t0001g0035a0049c0062t0013g0100 | 2 | HG03834.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3545-22933G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487278 | ||||||
| chr22:46487377
|
T | C | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3545-23032A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487377 | ||||||
| chr22:46487443
|
G | A | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-23098C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487443 | ||||||
| chr22:46487548
|
C | G | 51 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(48): Show | 51 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.3545-23203G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487548 | ||||||
| chr22:46487571
|
A | C | 1 | a0001c0001t0001g0085 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3545-23226T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487571 | ||||||
| chr22:46487592
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-23247C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487592 | ||||||
| chr22:46487604
|
T | C | 11 | a0001c0001t0001g0085a0001c0001t0016g0069a0001c0002t0001g0017others(8): Show | 11 | HG00639.hp2 HG00741.hp1 HG01106.hp1 others(8): Show |
intron_variant | MODIFIER | c.3545-23259A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487604 | ||||||
| chr22:46487606
|
C | CGGGGGAG others(203): Show |
9 | a0001c0001t0001g0075a0001c0028t0001g0079a0003c0015t0001g0022others(6): Show | 9 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.3545-23262_3545-23 others(216): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487606 | ||||||
| chr22:46487606
|
C | CGGGGGAG others(204): Show |
1 | a0033c0035t0002g0066 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3545-23262_3545-23 others(217): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487606 | ||||||
| chr22:46487606
|
C | T | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-23261G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487606 | ||||||
| chr22:46487607
|
G | A | 4 | a0002c0016t0003g0025a0013c0010t0001g0007a0043c0058t0004g0096others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-23262C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487607 | ||||||
| chr22:46487639
|
T | C | 37 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(34): Show | 37 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.3545-23294A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487639 | ||||||
| chr22:46487641
|
C | A | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3545-23296G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487641 | ||||||
| chr22:46487641
|
C | T | 2 | a0001c0001t0001g0072a0001c0039t0001g0073 | 2 | HG01496.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3545-23296G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487641 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(518): Show |
3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(531): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(76): Show |
12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(89): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(413): Show |
1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(426): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(308): Show |
4 | a0002c0016t0003g0025a0013c0010t0001g0007a0043c0058t0004g0096others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(321): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(239): Show |
1 | a0009c0053t0001g0090 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(252): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(238): Show |
1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(251): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(238): Show |
25 | a0001c0001t0001g0084a0001c0002t0001g0013a0001c0006t0001g0064others(22): Show | 25 | HG00099.hp1 HG00609.hp2 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(251): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(239): Show |
1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(252): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(239): Show |
1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(252): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(321): Show |
26 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(23): Show | 26 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(334): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(321): Show |
1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(334): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(238): Show |
2 | a0042c0061t0002g0097a0050c0070t0007g0003 | 2 | HG01496.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(251): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(262): Show |
1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(275): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(238): Show |
1 | a0001c0034t0001g0058 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(251): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(133): Show |
8 | a0001c0001t0016g0069a0001c0002t0001g0017a0003c0005t0002g0065others(5): Show | 8 | HG00639.hp2 HG00741.hp1 HG01106.hp1 others(5): Show |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(146): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(322): Show |
1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(335): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(286): Show |
1 | a0001c0001t0001g0085 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(299): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(273): Show |
2 | a0001c0001t0001g0072a0001c0039t0001g0073 | 2 | HG01496.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3545-23313_3545-23 others(286): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487657
|
A | AGGGTGCA others(435): Show |
1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3545-23313_3545-23 others(448): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487657 | ||||||
| chr22:46487668
|
G | A | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-23323C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487668 | ||||||
| chr22:46487730
|
G | C | 1 | a0034c0032t0001g0083 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3545-23385C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487730 | ||||||
| chr22:46487796
|
G | A | 3 | a0001c0001t0001g0084a0001c0002t0001g0013a0030c0036t0001g0076 | 3 | HG00741.hp2 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3545-23451C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487796 | ||||||
| chr22:46487870
|
G | A | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3545-23525C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487870 | ||||||
| chr22:46487871
|
G | GGGGAGGG others(23): Show |
1 | a0001c0001t0012g0034 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3545-23556_3545-23 others(36): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487871 | ||||||
| chr22:46487909
|
C | G | 90 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(87): Show | 90 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(87): Show |
intron_variant | MODIFIER | c.3545-23564G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46487909 | ||||||
| chr22:46488062
|
G | T | 31 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(28): Show | 31 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.3545-23717C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488062 | ||||||
| chr22:46488273
|
G | A | 1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3545-23928C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488273 | ||||||
| chr22:46488410
|
A | G | 57 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(54): Show | 57 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.3545-24065T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488410 | ||||||
| chr22:46488415
|
A | G | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-24070T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488415 | ||||||
| chr22:46488439
|
G | T | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3545-24094C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488439 | ||||||
| chr22:46488484
|
G | A | 1 | a0006c0017t0001g0018 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3545-24139C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488484 | ||||||
| chr22:46488588
|
C | A | 4 | a0002c0012t0003g0012a0027c0052t0001g0031a0028c0049t0001g0086others(1): Show | 4 | HG02630.hp2 HG02818.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3545-24243G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488588 | ||||||
| chr22:46488591
|
G | A | 38 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(35): Show | 38 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.3545-24246C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488591 | ||||||
| chr22:46488659
|
C | T | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-24314G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488659 | ||||||
| chr22:46488665
|
CT | C | 56 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(53): Show | 56 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(53): Show |
intron_variant | MODIFIER | c.3545-24321delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488665 | ||||||
| chr22:46488911
|
G | A | 2 | a0042c0061t0002g0097a0050c0070t0007g0003 | 2 | HG01496.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3545-24566C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46488911 | ||||||
| chr22:46489128
|
G | C | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3545-24783C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489128 | ||||||
| chr22:46489299
|
G | A | 5 | a0001c0034t0001g0058a0001c0044t0001g0027a0009c0053t0001g0090others(2): Show | 5 | HG00099.hp1 HG00609.hp2 HG00642.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-24954C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489299 | ||||||
| chr22:46489314
|
G | A | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-24969C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489314 | ||||||
| chr22:46489327
|
A | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-24982T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489327 | ||||||
| chr22:46489461
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-25116G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489461 | ||||||
| chr22:46489710
|
T | C | 60 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.3545-25365A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489710 | ||||||
| chr22:46489802
|
T | C | 60 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.3545-25457A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489802 | ||||||
| chr22:46489893
|
C | CA | 59 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(56): Show | 59 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3545-25549dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489893 | ||||||
| chr22:46489947
|
C | A | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-25602G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489947 | ||||||
| chr22:46489971
|
G | A | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-25626C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46489971 | ||||||
| chr22:46490102
|
G | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(3): Show | 6 | HG00741.hp2 HG01496.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.3545-25757C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490102 | ||||||
| chr22:46490139
|
C | A | 31 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(28): Show | 31 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.3545-25794G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490139 | ||||||
| chr22:46490147
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3545-25802A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490147 | ||||||
| chr22:46490318
|
G | A | 1 | a0029c0037t0006g0002 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3545-25973C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490318 | ||||||
| chr22:46490380
|
G | A | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-26035C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490380 | ||||||
| chr22:46490427
|
C | T | 6 | a0001c0001t0016g0069a0001c0002t0001g0017a0003c0005t0002g0065others(3): Show | 6 | HG00639.hp2 HG00741.hp1 HG01106.hp1 others(3): Show |
intron_variant | MODIFIER | c.3545-26082G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490427 | ||||||
| chr22:46490475
|
C | A | 1 | a0010c0069t0005g0001 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3545-26130G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490475 | ||||||
| chr22:46490539
|
C | A | 60 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.3545-26194G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490539 | ||||||
| chr22:46490623
|
G | A | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3545-26278C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490623 | ||||||
| chr22:46490626
|
G | A | 53 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(50): Show | 53 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(50): Show |
intron_variant | MODIFIER | c.3545-26281C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490626 | ||||||
| chr22:46490780
|
T | C | 60 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.3545-26435A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490780 | ||||||
| chr22:46490797
|
C | G | 12 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(9): Show | 12 | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-26452G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490797 | ||||||
| chr22:46490831
|
C | T | 1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3545-26486G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46490831 | ||||||
| chr22:46491119
|
C | A | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3545-26774G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491119 | ||||||
| chr22:46491144
|
T | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-26799A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491144 | ||||||
| chr22:46491150
|
C | T | 30 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(27): Show | 30 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.3545-26805G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491150 | ||||||
| chr22:46491194
|
C | CAT | 60 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.3545-26850_3545-26 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491194 | ||||||
| chr22:46491262
|
C | CT | 30 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(27): Show | 30 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.3545-26918dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491262 | ||||||
| chr22:46491262
|
C | CTT | 4 | a0001c0001t0001g0037a0001c0001t0001g0067a0001c0002t0001g0019others(1): Show | 4 | HG01255.hp1 HG01515.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.3545-26919_3545-26 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491262 | ||||||
| chr22:46491262
|
CT | C | 40 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(37): Show | 40 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3545-26918delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491262 | ||||||
| chr22:46491440
|
T | C | 11 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(8): Show | 11 | HG00642.hp2 HG02145.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.3545-27095A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491440 | ||||||
| chr22:46491625
|
T | TTC | 12 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(9): Show | 12 | HG00642.hp2 HG02145.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.3545-27282_3545-27 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491625 | ||||||
| chr22:46491625
|
T | TTCTC | 5 | a0005c0019t0001g0024a0015c0045t0001g0062a0042c0061t0002g0097others(2): Show | 5 | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-27284_3545-27 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491625 | ||||||
| chr22:46491637
|
C | CTCT | 43 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(40): Show |
intron_variant | MODIFIER | c.3545-27293_3545-27 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491637 | ||||||
| chr22:46491637
|
CT | C | 16 | a0001c0001t0016g0069a0001c0002t0001g0017a0001c0044t0001g0027others(13): Show | 16 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(13): Show |
intron_variant | MODIFIER | c.3545-27293delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491637 | ||||||
| chr22:46491638
|
T | TCTC | 19 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(16): Show | 19 | HG00741.hp2 HG01106.hp2 HG01496.hp1 others(16): Show |
intron_variant | MODIFIER | c.3545-27294_3545-27 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491638 | ||||||
| chr22:46491639
|
T | C | 13 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(10): Show | 13 | HG00642.hp2 HG02145.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.3545-27294A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491639 | ||||||
| chr22:46491918
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3545-27573A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491918 | ||||||
| chr22:46491919
|
G | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3545-27574C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491919 | ||||||
| chr22:46491934
|
G | A | 1 | a0003c0005t0002g0036 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3545-27589C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46491934 | ||||||
| chr22:46492021
|
C | T | 52 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(49): Show | 52 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-27676G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492021 | ||||||
| chr22:46492433
|
T | C | 1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3545-28088A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492433 | ||||||
| chr22:46492469
|
T | C | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-28124A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492469 | ||||||
| chr22:46492501
|
A | T | 52 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(49): Show | 52 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-28156T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492501 | ||||||
| chr22:46492502
|
C | T | 52 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(49): Show | 52 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-28157G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492502 | ||||||
| chr22:46492552
|
A | G | 97 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.3545-28207T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492552 | ||||||
| chr22:46492685
|
C | T | 20 | a0001c0001t0016g0069a0001c0002t0001g0017a0001c0034t0001g0058others(17): Show | 20 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
intron_variant | MODIFIER | c.3545-28340G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492685 | ||||||
| chr22:46492776
|
T | C | 52 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(49): Show | 52 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.3545-28431A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492776 | ||||||
| chr22:46492780
|
G | A | 2 | a0002c0012t0003g0012a0028c0049t0001g0086 | 2 | HG02630.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3545-28435C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492780 | ||||||
| chr22:46492987
|
T | C | 20 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0002t0001g0013others(17): Show | 20 | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.3545-28642A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46492987 | ||||||
| chr22:46493022
|
T | C | 31 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(28): Show | 31 | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.3545-28677A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493022 | ||||||
| chr22:46493112
|
T | C | 41 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0016g0069others(38): Show | 41 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.3545-28767A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493112 | ||||||
| chr22:46493266
|
C | T | 20 | a0001c0001t0016g0069a0001c0002t0001g0017a0001c0034t0001g0058others(17): Show | 20 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
intron_variant | MODIFIER | c.3545-28921G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493266 | ||||||
| chr22:46493451
|
T | C | 4 | a0001c0001t0001g0045a0001c0002t0001g0019a0001c0004t0001g0057others(1): Show | 4 | HG00639.hp1 HG01255.hp1 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.3545-29106A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493451 | ||||||
| chr22:46493540
|
C | T | 11 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0059others(8): Show | 11 | HG00099.hp2 HG01081.hp1 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.3545-29195G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493540 | ||||||
| chr22:46493545
|
CA | C | 92 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(89): Show | 92 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(89): Show |
intron_variant | MODIFIER | c.3545-29201delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493545 | ||||||
| chr22:46493635
|
G | A | 1 | a0001c0001t0014g0060 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3545-29290C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493635 | ||||||
| chr22:46493824
|
C | T | 1 | a0005c0019t0001g0024 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3545-29479G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493824 | ||||||
| chr22:46493826
|
A | C | 59 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0072others(56): Show | 59 | HG00099.hp1 HG00609.hp2 HG00621.hp2 others(56): Show |
intron_variant | MODIFIER | c.3545-29481T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493826 | ||||||
| chr22:46493844
|
C | T | 3 | a0001c0001t0001g0084a0001c0002t0001g0013a0030c0036t0001g0076 | 3 | HG00741.hp2 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3545-29499G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46493844 | ||||||
| chr22:46494017
|
A | G | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3545-29672T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494017 | ||||||
| chr22:46494233
|
C | G | 8 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3545-29888G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494233 | ||||||
| chr22:46494409
|
C | A | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3545-30064G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494409 | ||||||
| chr22:46494423
|
G | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3545-30078C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494423 | ||||||
| chr22:46494713
|
A | G | 64 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(61): Show | 64 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.3545-30368T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494713 | ||||||
| chr22:46494788
|
T | G | 13 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(10): Show | 13 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-30443A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494788 | ||||||
| chr22:46494815
|
C | T | 8 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3545-30470G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46494815 | ||||||
| chr22:46495002
|
G | A | 9 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(6): Show | 9 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.3545-30657C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495002 | ||||||
| chr22:46495208
|
G | A | 103 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.3545-30863C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495208 | ||||||
| chr22:46495246
|
A | G | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.3545-30901T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495246 | ||||||
| chr22:46495339
|
T | C | 2 | a0005c0048t0001g0080a0010c0069t0005g0001 | 2 | HG02258.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.3545-30994A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495339 | ||||||
| chr22:46495481
|
A | G | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.3545-31136T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495481 | ||||||
| chr22:46495615
|
T | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31270A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495615 | ||||||
| chr22:46495664
|
T | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31319A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495664 | ||||||
| chr22:46495826
|
T | TA | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3545-31482_3545-31 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495826 | ||||||
| chr22:46495827
|
T | A | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31482A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495827 | ||||||
| chr22:46495862
|
T | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31517A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495862 | ||||||
| chr22:46495874
|
A | T | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31529T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495874 | ||||||
| chr22:46495969
|
G | A | 9 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(6): Show | 9 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.3545-31624C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495969 | ||||||
| chr22:46495999
|
C | G | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31654G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46495999 | ||||||
| chr22:46496102
|
G | A | 22 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(19): Show | 22 | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.3545-31757C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496102 | ||||||
| chr22:46496158
|
C | A | 46 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(43): Show | 46 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.3545-31813G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496158 | ||||||
| chr22:46496200
|
CA | C | 19 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(16): Show | 19 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.3545-31856delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496200 | ||||||
| chr22:46496200
|
CAAAAA | C | 62 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(59): Show | 62 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.3545-31860_3545-31 others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496200 | ||||||
| chr22:46496323
|
T | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-31978A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496323 | ||||||
| chr22:46496454
|
G | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-32109C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496454 | ||||||
| chr22:46496578
|
T | C | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-32233A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496578 | ||||||
| chr22:46496581
|
A | T | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-32236T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496581 | ||||||
| chr22:46496627
|
ATT | A | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3545-32284_3545-32 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496627 | ||||||
| chr22:46496993
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3545-32648C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46496993 | ||||||
| chr22:46497195
|
C | T | 1 | a0001c0002t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3545-32850G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497195 | ||||||
| chr22:46497223
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3545-32878C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497223 | ||||||
| chr22:46497577
|
T | A | 35 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(32): Show | 35 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.3545-33232A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497577 | ||||||
| chr22:46497584
|
G | C | 1 | a0001c0002t0001g0014 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3545-33239C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497584 | ||||||
| chr22:46497676
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.3545-33331G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497676 | ||||||
| chr22:46497969
|
CCAGG | C | 45 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(42): Show | 45 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.3545-33628_3545-33 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46497969 | ||||||
| chr22:46498236
|
TGAAACTC others(35): Show |
T | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3545-33933_3545-33 others(48): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498236 | ||||||
| chr22:46498249
|
C | CA | 14 | a0001c0001t0001g0049a0001c0001t0001g0072a0001c0001t0001g0084others(11): Show | 14 | HG00099.hp1 HG00099.hp2 HG00741.hp1 others(11): Show |
intron_variant | MODIFIER | c.3545-33905dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498249
|
C | CAA | 7 | a0002c0016t0003g0025a0026c0038t0008g0026a0032c0018t0002g0021others(4): Show | 7 | HG02615.hp2 HG02922.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.3545-33906_3545-33 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498249
|
C | CAAA | 5 | a0003c0015t0001g0022a0007c0013t0001g0023a0013c0010t0001g0007others(2): Show | 5 | HG00642.hp2 HG01496.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.3545-33907_3545-33 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498249
|
CAAAAAAA others(8): Show |
C | 34 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(31): Show | 34 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.3545-33919_3545-33 others(21): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498249
|
CAAAAAAA others(36): Show |
C | 16 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(13): Show | 16 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.3545-33947_3545-33 others(49): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498249
|
CAAAAAAA others(37): Show |
C | 2 | a0001c0006t0001g0044a0008c0033t0002g0050 | 2 | HG00639.hp2 HG02129.hp2 |
intron_variant | MODIFIER | c.3545-33948_3545-33 others(50): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498249 | ||||||
| chr22:46498251
|
AAAAAAAA others(33): Show |
A | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3545-33946_3545-33 others(46): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498251 | ||||||
| chr22:46498286
|
T | C | 2 | a0041c0066t0002g0103a0049c0062t0013g0100 | 2 | HG03579.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3545-33941A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498286 | ||||||
| chr22:46498291
|
C | CA | 14 | a0001c0001t0001g0049a0001c0001t0001g0084a0001c0001t0012g0034others(11): Show | 14 | HG00099.hp1 HG00099.hp2 HG00741.hp1 others(11): Show |
intron_variant | MODIFIER | c.3545-33947dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498291 | ||||||
| chr22:46498291
|
CAAAAAAA others(4): Show |
C | 1 | a0049c0062t0013g0100 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3545-33957_3545-33 others(17): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498291 | ||||||
| chr22:46498291
|
CAAAAAAA others(8): Show |
C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3545-33961_3545-33 others(21): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498291 | ||||||
| chr22:46498328
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3545-33983C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498328 | ||||||
| chr22:46498347
|
C | T | 45 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(42): Show | 45 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.3545-34002G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498347 | ||||||
| chr22:46498381
|
G | A | 13 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(10): Show | 13 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-34036C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498381 | ||||||
| chr22:46498552
|
G | A | 14 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(11): Show | 14 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.3545-34207C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498552 | ||||||
| chr22:46498611
|
CA | C | 13 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(10): Show | 13 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3545-34267delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498611 | ||||||
| chr22:46498647
|
C | T | 45 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(42): Show | 45 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.3545-34302G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46498647 | ||||||
| chr22:46499053
|
G | A | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+34574C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499053 | ||||||
| chr22:46499067
|
C | T | 1 | a0001c0001t0014g0060 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3544+34560G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499067 | ||||||
| chr22:46499073
|
C | T | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+34554G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499073 | ||||||
| chr22:46499108
|
C | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(22): Show | 25 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.3544+34519G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499108 | ||||||
| chr22:46499185
|
TA | T | 17 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(14): Show | 17 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.3544+34441delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499185 | ||||||
| chr22:46499185
|
TAA | T | 77 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(74): Show | 77 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.3544+34440_3544+34 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499185 | ||||||
| chr22:46499548
|
C | T | 1 | a0005c0048t0001g0080 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3544+34079G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499548 | ||||||
| chr22:46499668
|
T | C | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.3544+33959A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499668 | ||||||
| chr22:46499680
|
A | G | 26 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(23): Show | 26 | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(23): Show |
intron_variant | MODIFIER | c.3544+33947T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499680 | ||||||
| chr22:46499743
|
C | A | 2 | a0001c0004t0001g0032a0021c0030t0001g0033 | 2 | HG01099.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.3544+33884G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499743 | ||||||
| chr22:46499779
|
T | G | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3544+33848A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499779 | ||||||
| chr22:46499863
|
C | T | 2 | a0041c0066t0002g0103a0049c0062t0013g0100 | 2 | HG03579.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3544+33764G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46499863 | ||||||
| chr22:46500101
|
A | ATCCTCCC others(25): Show |
3 | a0001c0002t0001g0013a0041c0066t0002g0103a0049c0062t0013g0100 | 3 | HG03579.hp1 NA18906.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3544+33494_3544+33 others(38): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500101 | ||||||
| chr22:46500101
|
A | ATCCTCCC others(57): Show |
8 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3544+33462_3544+33 others(70): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500101 | ||||||
| chr22:46500101
|
ATCCTCCC others(25): Show |
A | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061 | 3 | HG02258.hp2 HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3544+33494_3544+33 others(38): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500101 | ||||||
| chr22:46500154
|
C | T | 13 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(10): Show | 13 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+33473G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500154 | ||||||
| chr22:46500437
|
C | T | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.3544+33190G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500437 | ||||||
| chr22:46500594
|
G | A | 11 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(8): Show | 11 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.3544+33033C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500594 | ||||||
| chr22:46500805
|
T | A | 4 | a0001c0001t0001g0029a0001c0001t0001g0077a0001c0001t0001g0081others(1): Show | 4 | HG02027.hp1 HG02083.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+32822A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500805 | ||||||
| chr22:46500861
|
C | A | 13 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(10): Show | 13 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+32766G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500861 | ||||||
| chr22:46500881
|
A | G | 2 | a0041c0066t0002g0103a0049c0062t0013g0100 | 2 | HG03579.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3544+32746T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500881 | ||||||
| chr22:46500937
|
T | C | 18 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(15): Show | 18 | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.3544+32690A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46500937 | ||||||
| chr22:46501010
|
ATTTTATT others(5): Show |
A | 8 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3544+32605_3544+32 others(18): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501010 | ||||||
| chr22:46501199
|
A | AT | 20 | a0001c0001t0001g0041a0001c0001t0001g0087a0001c0002t0001g0017others(17): Show | 20 | HG00621.hp2 HG00741.hp1 HG01496.hp2 others(17): Show |
intron_variant | MODIFIER | c.3544+32427dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501199 | ||||||
| chr22:46501199
|
ATTTTTT | A | 44 | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0051others(41): Show | 44 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.3544+32422_3544+32 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501199 | ||||||
| chr22:46501237
|
C | T | 58 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(55): Show | 58 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.3544+32390G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501237 | ||||||
| chr22:46501527
|
A | G | 34 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(31): Show | 34 | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.3544+32100T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501527 | ||||||
| chr22:46501699
|
G | T | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+31928C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501699 | ||||||
| chr22:46501806
|
C | T | 6 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(3): Show | 6 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+31821G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501806 | ||||||
| chr22:46501813
|
T | A | 1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3544+31814A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501813 | ||||||
| chr22:46501819
|
C | T | 2 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | HG02615.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.3544+31808G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501819 | ||||||
| chr22:46501825
|
C | T | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+31802G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501825 | ||||||
| chr22:46501934
|
C | T | 46 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(43): Show | 46 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(43): Show |
intron_variant | MODIFIER | c.3544+31693G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46501934 | ||||||
| chr22:46502007
|
G | A | 2 | a0001c0002t0001g0017a0038c0007t0001g0004 | 2 | HG00741.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.3544+31620C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502007 | ||||||
| chr22:46502124
|
A | G | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+31503T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502124 | ||||||
| chr22:46502133
|
C | A | 6 | a0016c0047t0001g0035a0017c0020t0002g0020a0018c0046t0001g0030others(3): Show | 6 | HG01496.hp2 HG02145.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+31494G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502133 | ||||||
| chr22:46502178
|
A | G | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.3544+31449T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502178 | ||||||
| chr22:46502257
|
C | T | 1 | a0001c0006t0001g0044 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3544+31370G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502257 | ||||||
| chr22:46502339
|
G | C | 11 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(8): Show | 11 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.3544+31288C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502339 | ||||||
| chr22:46502375
|
A | AAAGGGGA others(44): Show |
16 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(13): Show | 16 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(13): Show |
intron_variant | MODIFIER | c.3544+31201_3544+31 others(57): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502375 | ||||||
| chr22:46502382
|
A | AGGGAAGG others(44): Show |
28 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(25): Show | 28 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.3544+31244_3544+31 others(57): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502382 | ||||||
| chr22:46502382
|
A | AGGGAAGG others(95): Show |
2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+31244_3544+31 others(108): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502382 | ||||||
| chr22:46502433
|
A | T | 46 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(43): Show | 46 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.3544+31194T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502433 | ||||||
| chr22:46502521
|
A | G | 65 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(62): Show | 65 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.3544+31106T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502521 | ||||||
| chr22:46502525
|
G | A | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+31102C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502525 | ||||||
| chr22:46502557
|
T | C | 57 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(54): Show | 57 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.3544+31070A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502557 | ||||||
| chr22:46502686
|
G | A | 2 | a0001c0002t0001g0013a0036c0056t0001g0092 | 2 | HG03195.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3544+30941C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502686 | ||||||
| chr22:46502751
|
C | G | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+30876G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502751 | ||||||
| chr22:46502773
|
T | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+30854A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502773 | ||||||
| chr22:46502824
|
G | C | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.3544+30803C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502824 | ||||||
| chr22:46502846
|
C | T | 54 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(51): Show | 54 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.3544+30781G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502846 | ||||||
| chr22:46502909
|
C | T | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+30718G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502909 | ||||||
| chr22:46502957
|
C | T | 1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3544+30670G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46502957 | ||||||
| chr22:46503028
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3544+30599C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503028 | ||||||
| chr22:46503032
|
G | C | 82 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(79): Show | 82 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(79): Show |
intron_variant | MODIFIER | c.3544+30595C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503032 | ||||||
| chr22:46503044
|
C | T | 7 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(4): Show | 7 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.3544+30583G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503044 | ||||||
| chr22:46503118
|
G | A | 48 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(45): Show | 48 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.3544+30509C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503118 | ||||||
| chr22:46503182
|
C | G | 60 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(57): Show | 60 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.3544+30445G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503182 | ||||||
| chr22:46503478
|
G | A | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+30149C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503478 | ||||||
| chr22:46503515
|
G | A | 1 | a0001c0044t0001g0027 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3544+30112C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503515 | ||||||
| chr22:46503804
|
A | T | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+29823T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503804 | ||||||
| chr22:46503876
|
AT | A | 47 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(44): Show | 47 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.3544+29750delA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503876 | ||||||
| chr22:46503877
|
T | A | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+29750A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503877 | ||||||
| chr22:46503994
|
T | C | 2 | a0041c0066t0002g0103a0049c0062t0013g0100 | 2 | HG03579.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3544+29633A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46503994 | ||||||
| chr22:46504033
|
A | G | 74 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(71): Show | 74 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.3544+29594T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504033 | ||||||
| chr22:46504042
|
A | G | 82 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(79): Show | 82 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(79): Show |
intron_variant | MODIFIER | c.3544+29585T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504042 | ||||||
| chr22:46504074
|
G | A | 6 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(3): Show | 6 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.3544+29553C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504074 | ||||||
| chr22:46504125
|
G | A | 1 | a0031c0022t0004g0039 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3544+29502C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504125 | ||||||
| chr22:46504237
|
A | G | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.3544+29390T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504237 | ||||||
| chr22:46504256
|
A | G | 84 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(81): Show | 84 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.3544+29371T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504256 | ||||||
| chr22:46504274
|
G | C | 8 | a0002c0016t0003g0025a0003c0015t0001g0022a0007c0013t0001g0023others(5): Show | 8 | HG00642.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3544+29353C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504274 | ||||||
| chr22:46504288
|
C | T | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.3544+29339G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504288 | ||||||
| chr22:46504371
|
G | A | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039 | 3 | HG02145.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+29256C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504371 | ||||||
| chr22:46504414
|
C | T | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039 | 3 | HG02145.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+29213G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504414 | ||||||
| chr22:46504504
|
C | CA | 11 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(8): Show | 11 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.3544+29122dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504504 | ||||||
| chr22:46504504
|
CA | C | 57 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(54): Show | 57 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.3544+29122delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504504 | ||||||
| chr22:46504510
|
AAAAAAAA others(4): Show |
A | 9 | a0001c0029t0001g0038a0003c0005t0002g0065a0005c0019t0001g0024others(6): Show | 9 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3544+29106_3544+29 others(17): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504510 | ||||||
| chr22:46504511
|
AAAAAAAA others(3): Show |
A | 8 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(5): Show | 8 | HG00621.hp2 HG01515.hp2 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.3544+29106_3544+29 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504511 | ||||||
| chr22:46504565
|
C | T | 84 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(81): Show | 84 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.3544+29062G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504565 | ||||||
| chr22:46504968
|
A | G | 77 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(74): Show | 77 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.3544+28659T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46504968 | ||||||
| chr22:46505023
|
G | A | 1 | a0004c0003t0001g0008 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3544+28604C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505023 | ||||||
| chr22:46505118
|
A | C | 77 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(74): Show | 77 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.3544+28509T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505118 | ||||||
| chr22:46505178
|
C | T | 13 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(10): Show | 13 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+28449G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505178 | ||||||
| chr22:46505211
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+28416C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505211 | ||||||
| chr22:46505240
|
C | T | 3 | a0001c0001t0001g0045a0001c0002t0001g0019a0009c0054t0001g0089 | 3 | HG00639.hp1 HG01255.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.3544+28387G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505240 | ||||||
| chr22:46505261
|
C | CA | 18 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(15): Show | 18 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.3544+28365dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505261 | ||||||
| chr22:46505261
|
C | CAA | 4 | a0001c0001t0001g0041a0001c0001t0001g0043a0042c0061t0002g0097others(1): Show | 4 | HG01496.hp2 HG02132.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+28364_3544+28 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505261 | ||||||
| chr22:46505261
|
C | CAAA | 17 | a0001c0001t0001g0087a0001c0004t0001g0057a0001c0006t0001g0044others(14): Show | 17 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.3544+28363_3544+28 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505261 | ||||||
| chr22:46505261
|
C | CAAAAA | 36 | a0001c0001t0001g0029a0001c0001t0001g0045a0001c0001t0001g0051others(33): Show | 36 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(33): Show |
intron_variant | MODIFIER | c.3544+28361_3544+28 others(11): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505261 | ||||||
| chr22:46505261
|
C | CAAAAAA | 18 | a0001c0001t0001g0081a0001c0001t0001g0084a0001c0001t0001g0085others(15): Show | 18 | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.3544+28360_3544+28 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505261 | ||||||
| chr22:46505356
|
G | A | 74 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(71): Show | 74 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.3544+28271C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505356 | ||||||
| chr22:46505418
|
G | C | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3544+28209C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505418 | ||||||
| chr22:46505429
|
T | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+28198A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505429 | ||||||
| chr22:46505628
|
A | G | 78 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(75): Show | 78 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.3544+27999T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505628 | ||||||
| chr22:46505681
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+27946A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505681 | ||||||
| chr22:46505862
|
A | G | 56 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(53): Show | 56 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.3544+27765T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46505862 | ||||||
| chr22:46506000
|
G | A | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+27627C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506000 | ||||||
| chr22:46506112
|
G | A | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+27515C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506112 | ||||||
| chr22:46506173
|
CA | C | 12 | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(9): Show | 12 | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+27453delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506173 | ||||||
| chr22:46506173
|
CAA | C | 7 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(4): Show | 7 | HG01496.hp2 HG02258.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.3544+27452_3544+27 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506173 | ||||||
| chr22:46506173
|
CAAA | C | 16 | a0001c0029t0001g0038a0002c0016t0003g0025a0003c0015t0001g0022others(13): Show | 16 | HG00642.hp2 HG01109.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.3544+27451_3544+27 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506173 | ||||||
| chr22:46506173
|
CAAAA | C | 14 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(11): Show | 14 | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(11): Show |
intron_variant | MODIFIER | c.3544+27450_3544+27 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506173 | ||||||
| chr22:46506173
|
CAAAAAAA others(3): Show |
C | 47 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(44): Show | 47 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.3544+27444_3544+27 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506173 | ||||||
| chr22:46506237
|
G | A | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+27390C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506237 | ||||||
| chr22:46506403
|
G | A | 12 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(9): Show | 12 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+27224C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506403 | ||||||
| chr22:46506487
|
C | T | 1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3544+27140G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506487 | ||||||
| chr22:46506562
|
C | G | 1 | a0001c0001t0011g0028 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3544+27065G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506562 | ||||||
| chr22:46506713
|
G | C | 74 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(71): Show | 74 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.3544+26914C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506713 | ||||||
| chr22:46506723
|
T | G | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+26904A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506723 | ||||||
| chr22:46506792
|
C | T | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+26835G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506792 | ||||||
| chr22:46506890
|
T | C | 56 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(53): Show | 56 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.3544+26737A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506890 | ||||||
| chr22:46506918
|
G | C | 4 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039others(1): Show | 4 | HG02145.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+26709C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506918 | ||||||
| chr22:46506944
|
C | T | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039 | 3 | HG02145.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+26683G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506944 | ||||||
| chr22:46506971
|
T | C | 80 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(77): Show | 80 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.3544+26656A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506971 | ||||||
| chr22:46506998
|
C | T | 5 | a0001c0029t0001g0038a0005c0019t0001g0024a0011c0011t0002g0011others(2): Show | 5 | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+26629G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46506998 | ||||||
| chr22:46507079
|
G | A | 13 | a0001c0001t0001g0041a0001c0001t0001g0087a0001c0004t0001g0032others(10): Show | 13 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+26548C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507079 | ||||||
| chr22:46507192
|
G | A | 3 | a0017c0020t0002g0020a0018c0046t0001g0030a0031c0022t0004g0039 | 3 | HG02145.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+26435C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507192 | ||||||
| chr22:46507468
|
G | C | 80 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(77): Show | 80 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.3544+26159C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507468 | ||||||
| chr22:46507501
|
G | A | 2 | a0001c0029t0001g0038a0011c0011t0002g0011 | 2 | HG02055.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.3544+26126C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507501 | ||||||
| chr22:46507718
|
G | T | 1 | a0047c0063t0003g0099 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3544+25909C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507718 | ||||||
| chr22:46507730
|
G | A | 9 | a0003c0005t0002g0065a0005c0048t0001g0080a0006c0017t0001g0018others(6): Show | 9 | HG01106.hp1 HG01261.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.3544+25897C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507730 | ||||||
| chr22:46507864
|
T | TG | 96 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(93): Show | 96 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.3544+25762dupC | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46507864 | ||||||
| chr22:46508004
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+25623A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508004 | ||||||
| chr22:46508097
|
C | T | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3544+25530G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508097 | ||||||
| chr22:46508154
|
G | A | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3544+25473C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508154 | ||||||
| chr22:46508254
|
G | A | 2 | a0006c0017t0001g0018a0041c0066t0002g0103 | 2 | HG01261.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3544+25373C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508254 | ||||||
| chr22:46508292
|
CAGGTGTG others(4): Show |
C | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3544+25324_3544+25 others(17): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508292 | ||||||
| chr22:46508376
|
C | T | 75 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.3544+25251G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508376 | ||||||
| chr22:46508393
|
C | T | 2 | a0017c0020t0002g0020a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+25234G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508393 | ||||||
| chr22:46508437
|
C | CA | 3 | a0040c0067t0009g0104a0042c0061t0002g0097a0044c0060t0001g0095 | 3 | HG01496.hp2 HG02647.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3544+25189_3544+25 others(7): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508437 | ||||||
| chr22:46508439
|
A | ACC | 9 | a0001c0001t0001g0072a0001c0040t0001g0088a0004c0003t0001g0008others(6): Show | 9 | HG00639.hp2 HG00735.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3544+25186_3544+25 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508439 | ||||||
| chr22:46508439
|
A | C | 3 | a0040c0067t0009g0104a0042c0061t0002g0097a0044c0060t0001g0095 | 3 | HG01496.hp2 HG02647.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3544+25188T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508439 | ||||||
| chr22:46508450
|
T | C | 1 | a0002c0012t0003g0012 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3544+25177A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508450 | ||||||
| chr22:46508673
|
G | A | 4 | a0003c0005t0002g0065a0006c0017t0001g0018a0019c0041t0010g0068others(1): Show | 4 | HG01106.hp1 HG01261.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+24954C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508673 | ||||||
| chr22:46508848
|
G | A | 6 | a0003c0015t0001g0022a0007c0013t0001g0023a0011c0011t0002g0011others(3): Show | 6 | HG00642.hp2 HG02258.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.3544+24779C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508848 | ||||||
| chr22:46508900
|
G | A | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3544+24727C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46508900 | ||||||
| chr22:46509055
|
C | G | 64 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(61): Show | 64 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(61): Show |
intron_variant | MODIFIER | c.3544+24572G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509055 | ||||||
| chr22:46509169
|
G | T | 17 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(14): Show | 17 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(14): Show |
intron_variant | MODIFIER | c.3544+24458C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509169 | ||||||
| chr22:46509170
|
C | A | 17 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(14): Show | 17 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(14): Show |
intron_variant | MODIFIER | c.3544+24457G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509170 | ||||||
| chr22:46509245
|
A | C | 62 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(59): Show | 62 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.3544+24382T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509245 | ||||||
| chr22:46509306
|
T | C | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+24321A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509306 | ||||||
| chr22:46509326
|
G | A | 56 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(53): Show | 56 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.3544+24301C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509326 | ||||||
| chr22:46509453
|
T | G | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+24174A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509453 | ||||||
| chr22:46509500
|
C | G | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+24127G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509500 | ||||||
| chr22:46509528
|
G | GAGGGGCT others(39): Show |
61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+24098_3544+24 others(52): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509528 | ||||||
| chr22:46509636
|
T | C | 60 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.3544+23991A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509636 | ||||||
| chr22:46509711
|
C | A | 3 | a0001c0001t0001g0072a0001c0001t0011g0028a0001c0039t0001g0073 | 3 | HG01496.hp1 HG02132.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3544+23916G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509711 | ||||||
| chr22:46509775
|
G | A | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3544+23852C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509775 | ||||||
| chr22:46509794
|
C | G | 58 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(55): Show | 58 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(55): Show |
intron_variant | MODIFIER | c.3544+23833G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509794 | ||||||
| chr22:46509938
|
C | G | 4 | a0002c0051t0003g0053a0018c0046t0001g0030a0042c0061t0002g0097others(1): Show | 4 | HG01496.hp2 HG02145.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+23689G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509938 | ||||||
| chr22:46509950
|
C | T | 60 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.3544+23677G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509950 | ||||||
| chr22:46509953
|
A | C | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3544+23674T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509953 | ||||||
| chr22:46509961
|
A | T | 7 | a0001c0004t0001g0057a0001c0034t0001g0058a0001c0040t0001g0088others(4): Show | 7 | HG00735.hp2 HG01515.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.3544+23666T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509961 | ||||||
| chr22:46509991
|
C | G | 3 | a0002c0051t0003g0053a0018c0046t0001g0030a0049c0062t0013g0100 | 3 | HG02145.hp1 HG02647.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3544+23636G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46509991 | ||||||
| chr22:46510013
|
A | G | 60 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(57): Show | 60 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.3544+23614T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510013 | ||||||
| chr22:46510023
|
A | G | 6 | a0002c0051t0003g0053a0018c0046t0001g0030a0026c0038t0008g0026others(3): Show | 6 | HG02145.hp1 HG02647.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+23604T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510023 | ||||||
| chr22:46510103
|
C | T | 8 | a0001c0004t0001g0057a0001c0034t0001g0058a0001c0040t0001g0088others(5): Show | 8 | HG00735.hp2 HG01515.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.3544+23524G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510103 | ||||||
| chr22:46510201
|
G | A | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.3544+23426C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510201 | ||||||
| chr22:46510214
|
A | T | 4 | a0005c0048t0001g0080a0024c0021t0001g0061a0028c0049t0001g0086others(1): Show | 4 | HG02486.hp2 HG02976.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+23413T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510214 | ||||||
| chr22:46510217
|
A | AT | 3 | a0002c0012t0003g0012a0027c0052t0001g0031a0046c0065t0002g0101 | 3 | HG02630.hp2 HG02818.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.3544+23409dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510217 | ||||||
| chr22:46510325
|
A | C | 2 | a0002c0051t0003g0053a0049c0062t0013g0100 | 2 | HG02647.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3544+23302T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510325 | ||||||
| chr22:46510425
|
A | G | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3544+23202T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510425 | ||||||
| chr22:46510542
|
A | G | 3 | a0005c0048t0001g0080a0024c0021t0001g0061a0039c0068t0001g0102 | 3 | HG02486.hp2 HG02976.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3544+23085T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510542 | ||||||
| chr22:46510588
|
C | T | 23 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(20): Show | 23 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.3544+23039G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510588 | ||||||
| chr22:46510654
|
G | A | 57 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(54): Show | 57 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(54): Show |
intron_variant | MODIFIER | c.3544+22973C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46510654 | ||||||
| chr22:46511045
|
C | T | 53 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(50): Show | 53 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(50): Show |
intron_variant | MODIFIER | c.3544+22582G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511045 | ||||||
| chr22:46511077
|
G | A | 1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3544+22550C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511077 | ||||||
| chr22:46511117
|
A | AAC | 67 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(64): Show | 67 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.3544+22508_3544+22 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511117 | ||||||
| chr22:46511117
|
A | AACAC | 3 | a0002c0051t0003g0053a0018c0046t0001g0030a0028c0049t0001g0086 | 3 | HG02145.hp1 HG02647.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3544+22506_3544+22 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511117 | ||||||
| chr22:46511176
|
C | A | 3 | a0023c0042t0002g0054a0040c0067t0009g0104a0047c0063t0003g0099 | 3 | HG03471.hp1 HG03579.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+22451G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511176 | ||||||
| chr22:46511235
|
G | C | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+22392C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511235 | ||||||
| chr22:46511244
|
T | C | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+22383A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511244 | ||||||
| chr22:46511250
|
CAG | C | 53 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(50): Show | 53 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(50): Show |
intron_variant | MODIFIER | c.3544+22375_3544+22 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511250 | ||||||
| chr22:46511452
|
C | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3544+22175G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511452 | ||||||
| chr22:46511489
|
C | T | 2 | a0003c0005t0002g0065a0019c0041t0010g0068 | 2 | HG01106.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.3544+22138G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511489 | ||||||
| chr22:46511540
|
C | A | 2 | a0001c0001t0001g0045a0001c0002t0001g0019 | 2 | HG00639.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.3544+22087G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511540 | ||||||
| chr22:46511545
|
A | G | 90 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(87): Show | 90 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(87): Show |
intron_variant | MODIFIER | c.3544+22082T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511545 | ||||||
| chr22:46511599
|
C | A | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3544+22028G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511599 | ||||||
| chr22:46511617
|
C | T | 3 | a0023c0042t0002g0054a0040c0067t0009g0104a0047c0063t0003g0099 | 3 | HG03471.hp1 HG03579.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+22010G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511617 | ||||||
| chr22:46511642
|
G | A | 1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3544+21985C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511642 | ||||||
| chr22:46511690
|
G | A | 18 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(15): Show | 18 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(15): Show |
intron_variant | MODIFIER | c.3544+21937C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511690 | ||||||
| chr22:46511719
|
G | A | 52 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(49): Show | 52 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(49): Show |
intron_variant | MODIFIER | c.3544+21908C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511719 | ||||||
| chr22:46511747
|
G | C | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3544+21880C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511747 | ||||||
| chr22:46511797
|
T | C | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+21830A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511797 | ||||||
| chr22:46511882
|
A | G | 5 | a0001c0004t0001g0057a0001c0034t0001g0058a0001c0040t0001g0088others(2): Show | 5 | HG00735.hp2 HG01515.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.3544+21745T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46511882 | ||||||
| chr22:46512039
|
A | G | 52 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(49): Show | 52 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(49): Show |
intron_variant | MODIFIER | c.3544+21588T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512039 | ||||||
| chr22:46512155
|
G | A | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3544+21472C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512155 | ||||||
| chr22:46512158
|
G | A | 62 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(59): Show | 62 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.3544+21469C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512158 | ||||||
| chr22:46512219
|
G | A | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3544+21408C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512219 | ||||||
| chr22:46512231
|
GAGGACCA others(38): Show |
G | 1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3544+21351_3544+21 others(51): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512231 | ||||||
| chr22:46512775
|
C | T | 8 | a0023c0042t0002g0054a0026c0038t0008g0026a0031c0022t0004g0039others(5): Show | 8 | HG02630.hp1 HG03195.hp2 HG03471.hp1 others(5): Show |
intron_variant | MODIFIER | c.3544+20852G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46512775 | ||||||
| chr22:46513046
|
T | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3544+20581A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513046 | ||||||
| chr22:46513062
|
C | T | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+20565G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513062 | ||||||
| chr22:46513306
|
A | G | 3 | a0026c0038t0008g0026a0031c0022t0004g0039a0050c0070t0007g0003 | 3 | HG03195.hp2 NA19030.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+20321T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513306 | ||||||
| chr22:46513360
|
C | T | 2 | a0040c0067t0009g0104a0047c0063t0003g0099 | 2 | HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3544+20267G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513360 | ||||||
| chr22:46513458
|
G | T | 81 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.3544+20169C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513458 | ||||||
| chr22:46513553
|
C | CT | 36 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(33): Show | 36 | HG00099.hp1 HG00609.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.3544+20073dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513553 | ||||||
| chr22:46513581
|
T | C | 5 | a0002c0016t0003g0025a0017c0020t0002g0020a0023c0042t0002g0054others(2): Show | 5 | HG02615.hp2 HG02818.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.3544+20046A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513581 | ||||||
| chr22:46513585
|
C | A | 1 | a0001c0001t0001g0063 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.3544+20042G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513585 | ||||||
| chr22:46513599
|
G | A | 9 | a0002c0016t0003g0025a0005c0048t0001g0080a0023c0042t0002g0054others(6): Show | 9 | HG02486.hp2 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.3544+20028C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513599 | ||||||
| chr22:46513621
|
A | G | 4 | a0002c0016t0003g0025a0010c0069t0005g0001a0017c0020t0002g0020others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+20006T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513621 | ||||||
| chr22:46513714
|
G | A | 1 | a0008c0033t0002g0050 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3544+19913C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513714 | ||||||
| chr22:46513719
|
G | C | 46 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(43): Show | 46 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(43): Show |
intron_variant | MODIFIER | c.3544+19908C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513719 | ||||||
| chr22:46513814
|
C | T | 26 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0004t0001g0032others(23): Show | 26 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(23): Show |
intron_variant | MODIFIER | c.3544+19813G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513814 | ||||||
| chr22:46513911
|
G | GC | 10 | a0001c0004t0001g0057a0001c0034t0001g0058a0001c0040t0001g0088others(7): Show | 10 | HG00735.hp2 HG01106.hp1 HG01515.hp2 others(7): Show |
intron_variant | MODIFIER | c.3544+19715dupG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513911 | ||||||
| chr22:46513917
|
C | A | 2 | a0024c0021t0001g0061a0039c0068t0001g0102 | 2 | HG02976.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3544+19710G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513917 | ||||||
| chr22:46513976
|
G | A | 3 | a0026c0038t0008g0026a0031c0022t0004g0039a0050c0070t0007g0003 | 3 | HG03195.hp2 NA19030.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+19651C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513976 | ||||||
| chr22:46513984
|
G | A | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+19643C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513984 | ||||||
| chr22:46513989
|
C | T | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+19638G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46513989 | ||||||
| chr22:46514074
|
C | T | 1 | a0011c0011t0002g0011 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3544+19553G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514074 | ||||||
| chr22:46514088
|
C | T | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3544+19539G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514088 | ||||||
| chr22:46514223
|
G | T | 2 | a0001c0029t0001g0038a0002c0016t0003g0025 | 2 | HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.3544+19404C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514223 | ||||||
| chr22:46514251
|
G | T | 1 | a0017c0020t0002g0020 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3544+19376C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514251 | ||||||
| chr22:46514673
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3544+18954C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514673 | ||||||
| chr22:46514718
|
G | A | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+18909C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514718 | ||||||
| chr22:46514733
|
T | G | 66 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(63): Show |
intron_variant | MODIFIER | c.3544+18894A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514733 | ||||||
| chr22:46514830
|
A | G | 29 | a0001c0001t0001g0075a0001c0001t0001g0085a0001c0001t0001g0087others(26): Show | 29 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.3544+18797T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46514830 | ||||||
| chr22:46515125
|
AC | A | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.3544+18501delG | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515125 | ||||||
| chr22:46515181
|
G | A | 5 | a0002c0016t0003g0025a0005c0048t0001g0080a0024c0021t0001g0061others(2): Show | 5 | HG02486.hp2 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3544+18446C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515181 | ||||||
| chr22:46515399
|
T | C | 20 | a0001c0001t0001g0049a0001c0001t0001g0075a0001c0001t0001g0085others(17): Show | 20 | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(17): Show |
intron_variant | MODIFIER | c.3544+18228A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515399 | ||||||
| chr22:46515408
|
T | C | 1 | a0016c0047t0001g0035 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3544+18219A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515408 | ||||||
| chr22:46515451
|
T | C | 4 | a0005c0048t0001g0080a0024c0021t0001g0061a0028c0049t0001g0086others(1): Show | 4 | HG02486.hp2 HG02976.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+18176A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515451 | ||||||
| chr22:46515550
|
G | C | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3544+18077C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515550 | ||||||
| chr22:46515579
|
G | C | 88 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(85): Show | 88 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.3544+18048C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515579 | ||||||
| chr22:46515759
|
G | A | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+17868C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515759 | ||||||
| chr22:46515848
|
G | A | 36 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(33): Show | 36 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(33): Show |
intron_variant | MODIFIER | c.3544+17779C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46515848 | ||||||
| chr22:46516183
|
A | G | 2 | a0002c0012t0003g0012a0046c0065t0002g0101 | 2 | HG02630.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3544+17444T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46516183 | ||||||
| chr22:46516307
|
A | G | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+17320T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46516307 | ||||||
| chr22:46516373
|
C | T | 1 | a0045c0059t0001g0094 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3544+17254G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46516373 | ||||||
| chr22:46516554
|
G | A | 2 | a0001c0031t0001g0047a0006c0026t0001g0048 | 2 | HG00099.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.3544+17073C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46516554 | ||||||
| chr22:46516973
|
T | C | 1 | a0001c0029t0001g0038 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3544+16654A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46516973 | ||||||
| chr22:46517077
|
G | A | 12 | a0001c0001t0001g0049a0001c0001t0001g0087a0001c0006t0001g0044others(9): Show | 12 | HG00621.hp2 HG01106.hp2 HG01496.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+16550C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517077 | ||||||
| chr22:46517184
|
C | T | 1 | a0001c0001t0001g0074 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3544+16443G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517184 | ||||||
| chr22:46517276
|
G | A | 3 | a0024c0021t0001g0061a0028c0049t0001g0086a0039c0068t0001g0102 | 3 | HG02976.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3544+16351C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517276 | ||||||
| chr22:46517331
|
G | C | 1 | a0007c0023t0001g0042 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3544+16296C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517331 | ||||||
| chr22:46517573
|
G | T | 3 | a0005c0048t0001g0080a0035c0057t0001g0093a0041c0066t0002g0103 | 3 | HG02486.hp2 HG03579.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3544+16054C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517573 | ||||||
| chr22:46517581
|
C | T | 90 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(87): Show | 90 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.3544+16046G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517581 | ||||||
| chr22:46517719
|
T | G | 1 | a0001c0001t0001g0059 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.3544+15908A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517719 | ||||||
| chr22:46517804
|
A | G | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+15823T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517804 | ||||||
| chr22:46517816
|
A | G | 2 | a0017c0020t0002g0020a0045c0059t0001g0094 | 2 | HG02630.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+15811T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517816 | ||||||
| chr22:46517877
|
T | C | 89 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(86): Show | 89 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.3544+15750A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517877 | ||||||
| chr22:46517884
|
C | T | 2 | a0018c0046t0001g0030a0023c0042t0002g0054 | 2 | HG02145.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+15743G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517884 | ||||||
| chr22:46517904
|
C | CT | 73 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(70): Show | 73 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.3544+15722dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517904 | ||||||
| chr22:46517907
|
T | TTTC | 6 | a0001c0001t0001g0049a0001c0001t0001g0071a0001c0001t0001g0087others(3): Show | 6 | HG00621.hp2 HG01106.hp2 HG02083.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+15719_3544+15 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46517907 | ||||||
| chr22:46518069
|
A | AT | 4 | a0002c0016t0003g0025a0005c0048t0001g0080a0031c0022t0004g0039others(1): Show | 4 | HG02486.hp2 HG02615.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+15557dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518069 | ||||||
| chr22:46518248
|
G | A | 4 | a0017c0020t0002g0020a0018c0046t0001g0030a0023c0042t0002g0054others(1): Show | 4 | HG02145.hp1 HG02818.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+15379C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518248 | ||||||
| chr22:46518329
|
G | A | 3 | a0024c0021t0001g0061a0028c0049t0001g0086a0039c0068t0001g0102 | 3 | HG02976.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3544+15298C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518329 | ||||||
| chr22:46518380
|
C | A | 13 | a0001c0001t0001g0037a0001c0001t0001g0063a0001c0001t0001g0071others(10): Show | 13 | HG00621.hp1 HG01255.hp2 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+15247G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518380 | ||||||
| chr22:46518401
|
T | A | 13 | a0001c0001t0001g0063a0001c0001t0012g0034a0001c0001t0014g0060others(10): Show | 13 | HG00621.hp1 HG01255.hp2 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.3544+15226A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518401 | ||||||
| chr22:46518647
|
C | T | 29 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0011g0028others(26): Show | 29 | HG00639.hp2 HG00735.hp2 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+14980G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518647 | ||||||
| chr22:46518697
|
G | A | 1 | a0001c0001t0001g0075 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3544+14930C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518697 | ||||||
| chr22:46518709
|
T | C | 1 | a0001c0002t0001g0019 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3544+14918A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518709 | ||||||
| chr22:46518805
|
G | A | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+14822C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518805 | ||||||
| chr22:46518911
|
T | C | 1 | a0001c0001t0001g0077 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.3544+14716A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518911 | ||||||
| chr22:46518986
|
T | C | 1 | a0041c0066t0002g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3544+14641A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46518986 | ||||||
| chr22:46519015
|
G | A | 2 | a0018c0046t0001g0030a0023c0042t0002g0054 | 2 | HG02145.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+14612C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519015 | ||||||
| chr22:46519032
|
C | CA | 5 | a0005c0019t0001g0024a0005c0048t0001g0080a0026c0038t0008g0026others(2): Show | 5 | HG00735.hp2 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+14594dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519032 | ||||||
| chr22:46519498
|
G | C | 6 | a0010c0069t0005g0001a0018c0046t0001g0030a0023c0042t0002g0054others(3): Show | 6 | HG02145.hp1 HG02258.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+14129C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519498 | ||||||
| chr22:46519504
|
C | T | 1 | a0001c0001t0001g0085 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3544+14123G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519504 | ||||||
| chr22:46519715
|
T | A | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+13912A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519715 | ||||||
| chr22:46519724
|
G | T | 22 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(19): Show | 22 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.3544+13903C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519724 | ||||||
| chr22:46519872
|
C | CTT | 20 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(17): Show | 20 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.3544+13753_3544+13 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519872 | ||||||
| chr22:46519873
|
T | C | 1 | a0001c0001t0014g0060 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3544+13754A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519873 | ||||||
| chr22:46519997
|
G | A | 2 | a0018c0046t0001g0030a0023c0042t0002g0054 | 2 | HG02145.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+13630C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46519997 | ||||||
| chr22:46520044
|
G | C | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+13583C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520044 | ||||||
| chr22:46520045
|
T | C | 1 | a0001c0028t0001g0079 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3544+13582A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520045 | ||||||
| chr22:46520250
|
T | C | 80 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(77): Show | 80 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(77): Show |
intron_variant | MODIFIER | c.3544+13377A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520250 | ||||||
| chr22:46520358
|
T | C | 79 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(76): Show | 79 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.3544+13269A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520358 | ||||||
| chr22:46520383
|
T | C | 22 | a0001c0001t0001g0056a0001c0001t0001g0072a0001c0001t0011g0028others(19): Show | 22 | HG00639.hp2 HG00735.hp2 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.3544+13244A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520383 | ||||||
| chr22:46520415
|
A | AT | 72 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(69): Show | 72 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(69): Show |
intron_variant | MODIFIER | c.3544+13211dupA | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520415 | ||||||
| chr22:46520765
|
A | T | 48 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(45): Show | 48 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(45): Show |
intron_variant | MODIFIER | c.3544+12862T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520765 | ||||||
| chr22:46520770
|
A | T | 5 | a0002c0016t0003g0025a0005c0048t0001g0080a0024c0021t0001g0061others(2): Show | 5 | HG02486.hp2 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3544+12857T>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520770 | ||||||
| chr22:46520861
|
A | G | 4 | a0011c0011t0002g0011a0027c0052t0001g0031a0040c0067t0009g0104others(1): Show | 4 | HG02258.hp1 HG02647.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+12766T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520861 | ||||||
| chr22:46520884
|
T | G | 4 | a0018c0046t0001g0030a0023c0042t0002g0054a0026c0038t0008g0026others(1): Show | 4 | HG02145.hp1 HG06807.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+12743A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520884 | ||||||
| chr22:46520903
|
C | A | 2 | a0018c0046t0001g0030a0023c0042t0002g0054 | 2 | HG02145.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3544+12724G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520903 | ||||||
| chr22:46520988
|
C | G | 12 | a0001c0029t0001g0038a0005c0048t0001g0080a0010c0069t0005g0001others(9): Show | 12 | HG01496.hp2 HG02055.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+12639G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46520988 | ||||||
| chr22:46521063
|
T | C | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+12564A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521063 | ||||||
| chr22:46521107
|
T | C | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+12520A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521107 | ||||||
| chr22:46521181
|
G | A | 80 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(77): Show | 80 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.3544+12446C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521181 | ||||||
| chr22:46521266
|
A | G | 1 | a0001c0001t0001g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3544+12361T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521266 | ||||||
| chr22:46521299
|
C | G | 47 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0056others(44): Show | 47 | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.3544+12328G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521299 | ||||||
| chr22:46521394
|
A | G | 56 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0056others(53): Show | 56 | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.3544+12233T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521394 | ||||||
| chr22:46521492
|
A | G | 94 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(91): Show |
intron_variant | MODIFIER | c.3544+12135T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521492 | ||||||
| chr22:46521551
|
C | A | 5 | a0013c0010t0001g0007a0036c0056t0001g0092a0043c0058t0004g0096others(2): Show | 5 | HG02486.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+12076G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521551 | ||||||
| chr22:46521870
|
C | T | 3 | a0018c0046t0001g0030a0023c0042t0002g0054a0026c0038t0008g0026 | 3 | HG02145.hp1 HG06807.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+11757G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46521870 | ||||||
| chr22:46522107
|
G | A | 2 | a0011c0011t0002g0011a0017c0020t0002g0020 | 2 | HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+11520C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522107 | ||||||
| chr22:46522220
|
G | A | 21 | a0001c0001t0001g0041a0001c0001t0001g0056a0001c0001t0001g0077others(18): Show | 21 | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(18): Show |
intron_variant | MODIFIER | c.3544+11407C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522220 | ||||||
| chr22:46522286
|
C | A | 6 | a0013c0010t0001g0007a0024c0021t0001g0061a0036c0056t0001g0092others(3): Show | 6 | HG02486.hp1 HG02922.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+11341G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522286 | ||||||
| chr22:46522367
|
T | C | 1 | a0037c0008t0001g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3544+11260A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522367 | ||||||
| chr22:46522804
|
G | A | 24 | a0001c0001t0001g0051a0001c0001t0012g0034a0001c0002t0001g0013others(21): Show | 24 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.3544+10823C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522804 | ||||||
| chr22:46522823
|
G | A | 63 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(60): Show | 63 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.3544+10804C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522823 | ||||||
| chr22:46522839
|
G | A | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.3544+10788C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522839 | ||||||
| chr22:46522930
|
T | C | 1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3544+10697A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46522930 | ||||||
| chr22:46523284
|
T | C | 1 | a0002c0016t0003g0025 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3544+10343A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523284 | ||||||
| chr22:46523435
|
C | T | 28 | a0001c0001t0001g0051a0001c0001t0012g0034a0001c0002t0001g0013others(25): Show | 28 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.3544+10192G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523435 | ||||||
| chr22:46523527
|
C | CAAAT | 11 | a0001c0001t0012g0034a0003c0005t0002g0036a0013c0010t0001g0007others(8): Show | 11 | HG02145.hp1 HG02486.hp1 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.3544+10096_3544+10 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
C | CAAATAAA others(1): Show |
12 | a0002c0016t0003g0025a0003c0005t0002g0065a0003c0015t0001g0022others(9): Show | 12 | HG00642.hp2 HG01106.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.3544+10092_3544+10 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
C | CAAATAAA others(5): Show |
11 | a0001c0001t0001g0051a0001c0002t0001g0013a0001c0002t0001g0014others(8): Show | 11 | HG01515.hp2 HG02258.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3544+10088_3544+10 others(18): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
C | CAAATAAA others(9): Show |
2 | a0035c0057t0001g0093a0042c0061t0002g0097 | 2 | HG01496.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.3544+10084_3544+10 others(22): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
C | CAAATAAA others(13): Show |
2 | a0015c0045t0001g0062a0028c0049t0001g0086 | 2 | HG01109.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3544+10080_3544+10 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
CAAAT | C | 3 | a0004c0003t0001g0008a0011c0011t0002g0011a0017c0020t0002g0020 | 3 | HG02258.hp1 HG02818.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.3544+10096_3544+10 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523527
|
CAAATAAA others(1): Show |
C | 49 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(46): Show | 49 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.3544+10092_3544+10 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523527 | ||||||
| chr22:46523598
|
T | C | 62 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(59): Show | 62 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(59): Show |
intron_variant | MODIFIER | c.3544+10029A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523598 | ||||||
| chr22:46523644
|
C | T | 27 | a0001c0001t0001g0051a0001c0001t0012g0034a0001c0002t0001g0013others(24): Show | 27 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.3544+9983G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523644 | ||||||
| chr22:46523751
|
G | C | 1 | a0001c0001t0001g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3544+9876C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523751 | ||||||
| chr22:46523864
|
C | A | 26 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(23): Show | 26 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.3544+9763G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46523864 | ||||||
| chr22:46524009
|
C | T | 91 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(88): Show | 91 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.3544+9618G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524009 | ||||||
| chr22:46524032
|
C | T | 1 | a0024c0021t0001g0061 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3544+9595G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524032 | ||||||
| chr22:46524208
|
T | C | 27 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(24): Show | 27 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.3544+9419A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524208 | ||||||
| chr22:46524256
|
G | A | 24 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(21): Show | 24 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.3544+9371C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524256 | ||||||
| chr22:46524290
|
C | T | 22 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(19): Show | 22 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.3544+9337G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524290 | ||||||
| chr22:46524379
|
C | T | 24 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(21): Show | 24 | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.3544+9248G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524379 | ||||||
| chr22:46524541
|
C | CGCGTGTG others(3): Show |
1 | a0004c0003t0015g0010 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3544+9085_3544+908 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524541 | ||||||
| chr22:46524541
|
C | CGT | 2 | a0005c0048t0001g0080a0026c0038t0008g0026 | 2 | HG02486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+9084_3544+908 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524541 | ||||||
| chr22:46524541
|
C | CGTGT | 2 | a0010c0069t0005g0001a0018c0046t0001g0030 | 2 | HG02145.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.3544+9082_3544+908 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524541 | ||||||
| chr22:46524549
|
T | TGC | 30 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(27): Show | 30 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+9077_3544+907 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524549 | ||||||
| chr22:46524561
|
T | C | 30 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(27): Show | 30 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+9066A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524561 | ||||||
| chr22:46524564
|
GTGTGTGT others(5): Show |
G | 30 | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(27): Show | 30 | HG00099.hp1 HG00609.hp2 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+9051_3544+906 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524564 | ||||||
| chr22:46524566
|
GTGTGTCT others(3): Show |
G | 2 | a0001c0001t0001g0029a0004c0003t0001g0009 | 2 | HG00609.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.3544+9051_3544+906 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524566 | ||||||
| chr22:46524568
|
GTGTC | G | 5 | a0001c0001t0001g0056a0001c0001t0001g0077a0022c0050t0001g0055others(2): Show | 5 | HG03579.hp1 HG03579.hp2 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+9055_3544+905 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524568 | ||||||
| chr22:46524570
|
GTC | G | 2 | a0011c0011t0002g0011a0017c0020t0002g0020 | 2 | HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3544+9055_3544+905 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524570 | ||||||
| chr22:46524570
|
GTCTGTC | G | 5 | a0013c0010t0001g0007a0036c0056t0001g0092a0043c0058t0004g0096others(2): Show | 5 | HG02486.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.3544+9051_3544+905 others(10): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524570 | ||||||
| chr22:46524572
|
C | G | 52 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0087others(49): Show | 52 | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.3544+9055G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524572 | ||||||
| chr22:46524573
|
T | C | 30 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(27): Show | 30 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+9054A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524573 | ||||||
| chr22:46524576
|
C | G | 57 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0056others(54): Show | 57 | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.3544+9051G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524576 | ||||||
| chr22:46524580
|
C | G | 31 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(28): Show | 31 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.3544+9047G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524580 | ||||||
| chr22:46524641
|
C | T | 65 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(62): Show | 65 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.3544+8986G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524641 | ||||||
| chr22:46524864
|
T | C | 33 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0043others(30): Show | 33 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(30): Show |
intron_variant | MODIFIER | c.3544+8763A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524864 | ||||||
| chr22:46524869
|
G | A | 28 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(25): Show | 28 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.3544+8758C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524869 | ||||||
| chr22:46524879
|
A | G | 67 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(64): Show | 67 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.3544+8748T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46524879 | ||||||
| chr22:46525143
|
A | G | 30 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(27): Show | 30 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+8484T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525143 | ||||||
| chr22:46525163
|
T | C | 30 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(27): Show | 30 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.3544+8464A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525163 | ||||||
| chr22:46525224
|
A | G | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+8403T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525224 | ||||||
| chr22:46525238
|
C | T | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+8389G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525238 | ||||||
| chr22:46525266
|
C | T | 66 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(63): Show | 66 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.3544+8361G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525266 | ||||||
| chr22:46525287
|
T | G | 28 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(25): Show | 28 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.3544+8340A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525287 | ||||||
| chr22:46525440
|
ACT | A | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+8185_3544+818 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525440 | ||||||
| chr22:46525449
|
C | CA | 51 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(48): Show | 51 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.3544+8177dupT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525449 | ||||||
| chr22:46525449
|
C | CAA | 7 | a0001c0001t0001g0051a0001c0001t0001g0075a0004c0003t0015g0010others(4): Show | 7 | HG02258.hp2 HG02486.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.3544+8176_3544+817 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525449 | ||||||
| chr22:46525449
|
C | CAAAA | 8 | a0001c0029t0001g0038a0011c0011t0002g0011a0013c0010t0001g0007others(5): Show | 8 | HG02055.hp2 HG02258.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3544+8174_3544+817 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525449 | ||||||
| chr22:46525449
|
CAA | C | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+8176_3544+817 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525449 | ||||||
| chr22:46525470
|
T | C | 29 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(26): Show | 29 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+8157A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525470 | ||||||
| chr22:46525875
|
A | G | 95 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(92): Show | 95 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(92): Show |
intron_variant | MODIFIER | c.3544+7752T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525875 | ||||||
| chr22:46525876
|
G | T | 1 | a0040c0067t0009g0104 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3544+7751C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525876 | ||||||
| chr22:46525943
|
C | T | 3 | a0005c0048t0001g0080a0010c0069t0005g0001a0044c0060t0001g0095 | 3 | HG02258.hp2 HG02486.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+7684G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525943 | ||||||
| chr22:46525961
|
T | C | 34 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(31): Show | 34 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(31): Show |
intron_variant | MODIFIER | c.3544+7666A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46525961 | ||||||
| chr22:46526000
|
C | T | 2 | a0010c0069t0005g0001a0044c0060t0001g0095 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.3544+7627G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526000 | ||||||
| chr22:46526163
|
G | A | 61 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(58): Show | 61 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.3544+7464C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526163 | ||||||
| chr22:46526229
|
T | C | 1 | a0044c0060t0001g0095 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3544+7398A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526229 | ||||||
| chr22:46526237
|
C | A | 32 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0043others(29): Show | 32 | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.3544+7390G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526237 | ||||||
| chr22:46526320
|
G | A | 3 | a0001c0001t0014g0060a0001c0028t0001g0079a0006c0017t0001g0018 | 3 | HG00735.hp1 HG01255.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.3544+7307C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526320 | ||||||
| chr22:46526333
|
G | T | 35 | a0001c0001t0012g0034a0001c0002t0001g0013a0001c0002t0001g0014others(32): Show | 35 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.3544+7294C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526333 | ||||||
| chr22:46526633
|
C | T | 29 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0043others(26): Show | 29 | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.3544+6994G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526633 | ||||||
| chr22:46526654
|
G | A | 3 | a0018c0046t0001g0030a0023c0042t0002g0054a0026c0038t0008g0026 | 3 | HG02145.hp1 HG06807.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+6973C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526654 | ||||||
| chr22:46526678
|
G | A | 4 | a0005c0048t0001g0080a0010c0069t0005g0001a0024c0021t0001g0061others(1): Show | 4 | HG02258.hp2 HG02486.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+6949C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526678 | ||||||
| chr22:46526714
|
T | C | 35 | a0001c0001t0001g0051a0001c0001t0012g0034a0001c0002t0001g0013others(32): Show | 35 | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.3544+6913A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526714 | ||||||
| chr22:46526818
|
G | A | 3 | a0010c0069t0005g0001a0024c0021t0001g0061a0044c0060t0001g0095 | 3 | HG02258.hp2 HG02647.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3544+6809C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526818 | ||||||
| chr22:46526823
|
C | T | 1 | a0001c0002t0001g0019 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3544+6804G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46526823 | ||||||
| chr22:46527128
|
C | T | 1 | a0014c0055t0001g0091 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3544+6499G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527128 | ||||||
| chr22:46527141
|
A | G | 40 | a0001c0001t0001g0041a0001c0001t0001g0056a0001c0001t0001g0081others(37): Show | 40 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.3544+6486T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527141 | ||||||
| chr22:46527219
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+6408G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527219 | ||||||
| chr22:46527408
|
G | A | 1 | a0018c0046t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3544+6219C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527408 | ||||||
| chr22:46527418
|
A | C | 4 | a0002c0051t0003g0053a0036c0056t0001g0092a0047c0063t0003g0099others(1): Show | 4 | HG02647.hp1 HG02922.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+6209T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527418 | ||||||
| chr22:46527602
|
G | A | 1 | a0023c0042t0002g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3544+6025C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527602 | ||||||
| chr22:46527825
|
G | A | 3 | a0010c0069t0005g0001a0024c0021t0001g0061a0044c0060t0001g0095 | 3 | HG02258.hp2 HG02647.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3544+5802C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527825 | ||||||
| chr22:46527870
|
C | T | 1 | a0001c0001t0001g0063 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.3544+5757G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527870 | ||||||
| chr22:46527903
|
C | T | 70 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(67): Show | 70 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(67): Show |
intron_variant | MODIFIER | c.3544+5724G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527903 | ||||||
| chr22:46527975
|
A | G | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+5652T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527975 | ||||||
| chr22:46527993
|
G | T | 2 | a0003c0005t0002g0036a0016c0047t0001g0035 | 2 | HG03834.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3544+5634C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527993 | ||||||
| chr22:46527995
|
T | C | 70 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(67): Show | 70 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(67): Show |
intron_variant | MODIFIER | c.3544+5632A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46527995 | ||||||
| chr22:46528093
|
A | ACT | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+5532_3544+553 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528093 | ||||||
| chr22:46528100
|
CA | C | 6 | a0011c0011t0002g0011a0017c0020t0002g0020a0025c0024t0001g0046others(3): Show | 6 | HG00099.hp1 HG01496.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.3544+5526delT | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528100 | ||||||
| chr22:46528357
|
A | G | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+5270T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528357 | ||||||
| chr22:46528479
|
G | A | 3 | a0011c0011t0002g0011a0017c0020t0002g0020a0031c0022t0004g0039 | 3 | HG02258.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+5148C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528479 | ||||||
| chr22:46528574
|
C | T | 16 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0051others(13): Show | 16 | HG00099.hp2 HG00621.hp2 HG00639.hp2 others(13): Show |
intron_variant | MODIFIER | c.3544+5053G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528574 | ||||||
| chr22:46528575
|
C | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+5052G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528575 | ||||||
| chr22:46528613
|
C | T | 1 | a0015c0045t0001g0062 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3544+5014G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528613 | ||||||
| chr22:46528657
|
G | A | 3 | a0013c0010t0001g0007a0024c0021t0001g0061a0044c0060t0001g0095 | 3 | HG02486.hp1 HG02647.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3544+4970C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528657 | ||||||
| chr22:46528694
|
T | C | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4933A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528694 | ||||||
| chr22:46528699
|
C | A | 13 | a0001c0001t0001g0037a0001c0002t0001g0017a0003c0005t0002g0036others(10): Show | 13 | HG00741.hp1 HG01261.hp1 HG01515.hp1 others(10): Show |
intron_variant | MODIFIER | c.3544+4928G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528699 | ||||||
| chr22:46528806
|
G | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4821C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528806 | ||||||
| chr22:46528842
|
C | T | 55 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(52): Show | 55 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(52): Show |
intron_variant | MODIFIER | c.3544+4785G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528842 | ||||||
| chr22:46528928
|
CAAAAT | C | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4694_3544+469 others(9): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528928 | ||||||
| chr22:46528928
|
CAAAATAA others(3): Show |
C | 1 | a0001c0001t0001g0045 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3544+4689_3544+469 others(14): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528928 | ||||||
| chr22:46528994
|
A | G | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4633T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46528994 | ||||||
| chr22:46529122
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3544+4505A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529122 | ||||||
| chr22:46529126
|
T | G | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3544+4501A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529126 | ||||||
| chr22:46529197
|
C | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4430G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529197 | ||||||
| chr22:46529215
|
G | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4412C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529215 | ||||||
| chr22:46529305
|
C | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+4322G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529305 | ||||||
| chr22:46529633
|
T | C | 1 | a0004c0003t0001g0009 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.3544+3994A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529633 | ||||||
| chr22:46529725
|
C | T | 1 | a0039c0068t0001g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3544+3902G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529725 | ||||||
| chr22:46529728
|
A | G | 60 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(57): Show | 60 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.3544+3899T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529728 | ||||||
| chr22:46529818
|
A | G | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+3809T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46529818 | ||||||
| chr22:46530127
|
T | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+3500A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530127 | ||||||
| chr22:46530136
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3544+3491G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530136 | ||||||
| chr22:46530157
|
T | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+3470A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530157 | ||||||
| chr22:46530158
|
A | AT | 4 | a0011c0011t0002g0011a0017c0020t0002g0020a0031c0022t0004g0039others(1): Show | 4 | HG02258.hp1 HG02818.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.3544+3468_3544+346 others(5): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530158 | ||||||
| chr22:46530294
|
T | C | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+3333A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530294 | ||||||
| chr22:46530437
|
T | G | 29 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0056others(26): Show | 29 | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.3544+3190A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530437 | ||||||
| chr22:46530509
|
C | T | 3 | a0018c0046t0001g0030a0023c0042t0002g0054a0026c0038t0008g0026 | 3 | HG02145.hp1 HG06807.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3544+3118G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530509 | ||||||
| chr22:46530585
|
G | A | 71 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(68): Show | 71 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.3544+3042C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530585 | ||||||
| chr22:46530794
|
C | A | 28 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(25): Show | 28 | HG00099.hp2 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.3544+2833G>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530794 | ||||||
| chr22:46530796
|
T | C | 28 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(25): Show | 28 | HG00099.hp2 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.3544+2831A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530796 | ||||||
| chr22:46530804
|
G | A | 27 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0045others(24): Show | 27 | HG00099.hp2 HG00621.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.3544+2823C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530804 | ||||||
| chr22:46530938
|
A | C | 1 | a0035c0057t0001g0093 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3544+2689T>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530938 | ||||||
| chr22:46530968
|
C | T | 1 | a0002c0051t0003g0053 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3544+2659G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530968 | ||||||
| chr22:46530978
|
T | C | 11 | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0081others(8): Show | 11 | HG00639.hp1 HG00741.hp1 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.3544+2649A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46530978 | ||||||
| chr22:46531007
|
C | T | 12 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0051others(9): Show | 12 | HG00099.hp2 HG00621.hp2 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+2620G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531007 | ||||||
| chr22:46531040
|
A | G | 57 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(54): Show | 57 | HG00609.hp2 HG00639.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.3544+2587T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531040 | ||||||
| chr22:46531060
|
T | G | 45 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0056others(42): Show | 45 | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(42): Show |
intron_variant | MODIFIER | c.3544+2567A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531060 | ||||||
| chr22:46531185
|
T | TTTTA | 12 | a0001c0001t0001g0029a0001c0001t0001g0081a0001c0001t0001g0082others(9): Show | 12 | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+2438_3544+244 others(8): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531185 | ||||||
| chr22:46531185
|
T | TTTTATTT others(1): Show |
12 | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0049others(9): Show | 12 | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.3544+2434_3544+244 others(12): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531185 | ||||||
| chr22:46531185
|
T | TTTTATTT others(5): Show |
1 | a0020c0043t0001g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3544+2430_3544+244 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531185 | ||||||
| chr22:46531185
|
TTTTATTT others(5): Show |
T | 45 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0056others(42): Show | 45 | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(42): Show |
intron_variant | MODIFIER | c.3544+2430_3544+244 others(16): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531185 | ||||||
| chr22:46531352
|
C | T | 11 | a0001c0001t0001g0029a0001c0001t0001g0049a0001c0001t0001g0051others(8): Show | 11 | HG00099.hp2 HG00621.hp2 HG00639.hp2 others(8): Show |
intron_variant | MODIFIER | c.3544+2275G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531352 | ||||||
| chr22:46531355
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+2272C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531355 | ||||||
| chr22:46531359
|
C | G | 1 | a0043c0058t0004g0096 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3544+2268G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531359 | ||||||
| chr22:46531476
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3544+2151C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531476 | ||||||
| chr22:46531483
|
G | T | 58 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(55): Show | 58 | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(55): Show |
intron_variant | MODIFIER | c.3544+2144C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531483 | ||||||
| chr22:46531767
|
G | C | 20 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(17): Show | 20 | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.3544+1860C>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531767 | ||||||
| chr22:46531770
|
C | T | 20 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(17): Show | 20 | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.3544+1857G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531770 | ||||||
| chr22:46531958
|
T | A | 101 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.3544+1669A>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531958 | ||||||
| chr22:46531959
|
GGA | G | 101 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.3544+1666_3544+166 others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46531959 | ||||||
| chr22:46532135
|
C | T | 1 | a0001c0044t0001g0027 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3544+1492G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532135 | ||||||
| chr22:46532168
|
G | A | 1 | a0028c0049t0001g0086 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3544+1459C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532168 | ||||||
| chr22:46532206
|
C | T | 2 | a0011c0011t0002g0011a0031c0022t0004g0039 | 2 | HG02258.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.3544+1421G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532206 | ||||||
| chr22:46532337
|
G | A | 6 | a0002c0016t0003g0025a0003c0015t0001g0022a0005c0019t0001g0024others(3): Show | 6 | HG00642.hp2 HG02055.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.3544+1290C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532337 | ||||||
| chr22:46532369
|
G | A | 66 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0043others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.3544+1258C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532369 | ||||||
| chr22:46532398
|
C | T | 3 | a0001c0001t0001g0029a0001c0001t0011g0028a0001c0044t0001g0027 | 3 | HG00609.hp2 HG02083.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.3544+1229G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532398 | ||||||
| chr22:46532858
|
G | T | 2 | a0035c0057t0001g0093a0036c0056t0001g0092 | 2 | HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3544+769C>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46532858 | ||||||
| chr22:46533017
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3544+610C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533017 | ||||||
| chr22:46533024
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+603C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533024 | ||||||
| chr22:46533143
|
C | T | 1 | a0038c0007t0001g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.3544+484G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533143 | ||||||
| chr22:46533157
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+470C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533157 | ||||||
| chr22:46533279
|
T | C | 99 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.3544+348A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533279 | ||||||
| chr22:46533292
|
T | G | 97 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(94): Show |
intron_variant | MODIFIER | c.3544+335A>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533292 | ||||||
| chr22:46533361
|
G | A | 1 | a0001c0040t0001g0088 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3544+266C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533361 | ||||||
| chr22:46533373
|
G | A | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+254C>T | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533373 | ||||||
| chr22:46533403
|
C | T | 4 | a0046c0065t0002g0101a0047c0063t0003g0099a0048c0064t0001g0098others(1): Show | 4 | HG02922.hp1 HG02976.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.3544+224G>A | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533403 | ||||||
| chr22:46533462
|
C | G | 98 | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(95): Show | 98 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.3544+165G>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533462 | ||||||
| chr22:46533529
|
A | G | 1 | a0026c0038t0008g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3544+98T>C | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533529 | ||||||
| chr22:46533530
|
T | C | 1 | a0042c0061t0002g0097 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3544+97A>G | CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | 46533530 |