| geneid | 7840 |
|---|---|
| ensemblid | ENSG00000116127.20 |
| hgncid | 428 |
| symbol | ALMS1 |
| name | ALMS1 centrosome and basal body associated protein |
| refseq_nuc | NM_001378454.1 |
| refseq_prot | NP_001365383.1 |
| ensembl_nuc | ENST00000613296.6 |
| ensembl_prot | ENSP00000482968.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 73385836 |
| end | 73609916 |
| strand | + |
| ver | v1.2 |
| region | chr2:73385836-73609916 |
| region5000 | chr2:73380836-73614916 |
| regionname0 | ALMS1_chr2_73385836_73609916 |
| regionname5000 | ALMS1_chr2_73380836_73614916 |
| 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 | 4169 | 47 | 0 | 15 | 21 | 3 | 8 | 17 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002 | 0/0 | 4165 | 27 | 21 | 2 | 0 | 3 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0003 | 0/0 | 4165 | 25 | 0 | 0 | 22 | 0 | 3 | 20 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004 | 0/0 | 4165 | 24 | 4 | 14 | 0 | 1 | 5 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0005 | 0/0 | 4167 | 13 | 2 | 8 | 3 | 0 | 0 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0006 | 0/0 | 4166 | 11 | 10 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0007 | 0/0 | 4170 | 11 | 2 | 4 | 4 | 0 | 1 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0008 | 0/0 | 4166 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0009 | 0/0 | 4165 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0010 | 0/0 | 4167 | 6 | 3 | 2 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011 | 0/0 | 4165 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0012 | 0/0 | 4165 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0013 | 0/0 | 4168 | 4 | 2 | 0 | 1 | 0 | 1 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0014 | 0/0 | 4165 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0015 | 0/1 | 4169 | 3 | 0 | 0 | 0 | 1 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0016 | 0/0 | 4169 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0017 | 0/0 | 4163 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0018 | 0/0 | 4165 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0019 | 0/0 | 4165 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0020 | 0/0 | 4165 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0021 | 0/0 | 4166 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0022 | 0/0 | 4166 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0023 | 0/0 | 4167 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0024 | 0/0 | 4163 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0025 | 0/0 | 4163 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0026 | 0/0 | 4166 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0027 | 0/0 | 4166 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0028 | 0/0 | 4166 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0029 | 0/0 | 4165 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0030 | 0/0 | 4165 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0031 | 0/0 | 4165 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0032 | 0/0 | 4165 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0033 | 0/0 | 4165 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0034 | 0/0 | 4165 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0035 | 0/0 | 4165 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0036 | 0/0 | 4165 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0037 | 0/0 | 4165 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0038 | 0/0 | 4165 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0039 | 0/0 | 4165 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0040 | 0/0 | 4165 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0041 | 0/0 | 4165 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0042 | 0/0 | 4166 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0043 | 0/0 | 4167 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0044 | 0/0 | 4167 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0045 | 0/0 | 4167 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0046 | 0/0 | 4167 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0047 | 0/0 | 4167 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0048 | 0/0 | 4168 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0049 | 1/0 | 4168 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0050 | 0/0 | 4169 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0051 | 0/0 | 4169 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0052 | 0/0 | 4169 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0053 | 0/0 | 4169 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0054 | 0/0 | 4169 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0055 | 0/0 | 4169 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0056 | 0/0 | 4169 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0057 | 0/0 | 4169 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0058 | 0/0 | 4170 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0059 | 0/0 | 4172 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| 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 | 12510 | 46 | 0 | 14 | 21 | 3 | 8 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0002 | 0/0 | 12498 | 25 | 0 | 0 | 22 | 0 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0003 | 0/0 | 12498 | 22 | 2 | 14 | 0 | 1 | 5 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0004 | 0/0 | 12498 | 14 | 13 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0005 | 0/0 | 12504 | 12 | 2 | 7 | 3 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0006 | 0/0 | 12513 | 11 | 2 | 4 | 4 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0007 | 0/0 | 12501 | 7 | 6 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0008 | 0/0 | 12501 | 6 | 5 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0009 | 0/0 | 12504 | 6 | 3 | 2 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0010 | 0/0 | 12501 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0011 | 0/0 | 12498 | 4 | 0 | 1 | 0 | 3 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0012 | 0/0 | 12498 | 4 | 3 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0013 | 0/0 | 12498 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0014 | 0/0 | 12507 | 4 | 2 | 0 | 1 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0015 | 0/1 | 12510 | 3 | 0 | 0 | 0 | 1 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0016 | 0/0 | 12510 | 3 | 0 | 0 | 3 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0017 | 0/0 | 12492 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0018 | 0/0 | 12498 | 2 | 1 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0019 | 0/0 | 12498 | 2 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0020 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0021 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0022 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0023 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0024 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0025 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0026 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0027 | 0/0 | 12504 | 2 | 0 | 1 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0028 | 0/0 | 12501 | 2 | 0 | 0 | 2 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0029 | 0/0 | 12501 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0030 | 0/0 | 12492 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0031 | 0/0 | 12492 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0032 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0033 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0034 | 0/0 | 12501 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0035 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0036 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0037 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0038 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0039 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0040 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0041 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0042 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0043 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0044 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0045 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0046 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0047 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0048 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0049 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0050 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0051 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0052 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0053 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0054 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0055 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0056 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0057 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0058 | 0/0 | 12504 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0059 | 0/0 | 12507 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0060 | 1/0 | 12507 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0061 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0062 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0063 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0064 | 0/0 | 12504 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0065 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0066 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0067 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0068 | 0/0 | 12510 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0069 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0070 | 0/0 | 12510 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0071 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0072 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0073 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0074 | 0/0 | 12513 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0075 | 0/0 | 12510 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| c0076 | 0/0 | 12519 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| 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 | 1/1 | 338 | 214 | 82 | 41 | 63 | 7 | 19 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| t0002 | 0/0 | 338 | 30 | 4 | 16 | 2 | 1 | 7 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| t0003 | 0/0 | 338 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| t0004 | 0/0 | 338 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| t0005 | 0/0 | 338 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| 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 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0189 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0214 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| 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 | 12510 | 46 | 0 | 14 | 21 | 3 | 8 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0001c0066 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0004 | 0/0 | 12498 | 14 | 13 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0011 | 0/0 | 12498 | 4 | 0 | 1 | 0 | 3 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0020 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0023 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0040 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0041 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0047 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0052 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0054 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0003c0002 | 0/0 | 12498 | 25 | 0 | 0 | 22 | 0 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0003 | 0/0 | 12498 | 22 | 2 | 14 | 0 | 1 | 5 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0043 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0053 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0005c0005 | 0/0 | 12504 | 12 | 2 | 7 | 3 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0005c0058 | 0/0 | 12504 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0006c0007 | 0/0 | 12501 | 7 | 6 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0006c0010 | 0/0 | 12501 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0007c0006 | 0/0 | 12513 | 11 | 2 | 4 | 4 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0008c0008 | 0/0 | 12501 | 6 | 5 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0009c0013 | 0/0 | 12498 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0009c0026 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0010c0009 | 0/0 | 12504 | 6 | 3 | 2 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0022 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0024 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0048 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0012c0012 | 0/0 | 12498 | 4 | 3 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0013c0014 | 0/0 | 12507 | 4 | 2 | 0 | 1 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0014c0021 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0014c0039 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0015c0015 | 0/1 | 12510 | 3 | 0 | 0 | 0 | 1 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0016c0016 | 0/0 | 12510 | 3 | 0 | 0 | 3 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0017c0017 | 0/0 | 12492 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0018c0025 | 0/0 | 12498 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0019c0018 | 0/0 | 12498 | 2 | 1 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0020c0019 | 0/0 | 12498 | 2 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0021c0029 | 0/0 | 12501 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0022c0028 | 0/0 | 12501 | 2 | 0 | 0 | 2 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0023c0027 | 0/0 | 12504 | 2 | 0 | 1 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0024c0030 | 0/0 | 12492 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0025c0031 | 0/0 | 12492 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0026c0057 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0027c0032 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0028c0033 | 0/0 | 12501 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0029c0056 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0030c0038 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0031c0042 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0032c0046 | 0/0 | 12498 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0033c0055 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0034c0049 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0035c0050 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0036c0045 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0037c0044 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0038c0051 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0039c0037 | 0/0 | 12498 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0040c0036 | 0/0 | 12498 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0041c0035 | 0/0 | 12498 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0042c0034 | 0/0 | 12501 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0043c0062 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0044c0064 | 0/0 | 12504 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0045c0063 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0046c0065 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0047c0061 | 0/0 | 12504 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0048c0059 | 0/0 | 12507 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0049c0060 | 1/0 | 12507 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0050c0067 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0051c0068 | 0/0 | 12510 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0052c0071 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0053c0070 | 0/0 | 12510 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0054c0069 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0055c0072 | 0/0 | 12510 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0056c0073 | 0/0 | 12510 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0057c0075 | 0/0 | 12510 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0058c0074 | 0/0 | 12513 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0059c0076 | 0/0 | 12519 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 12847 | 45 | 0 | 13 | 21 | 3 | 8 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0001c0001t0004 | 0/0 | 12847 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0001c0066t0001 | 0/0 | 12847 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0004t0001 | 0/0 | 12835 | 14 | 13 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0011t0001 | 0/0 | 12835 | 4 | 0 | 1 | 0 | 3 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0020t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0023t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0040t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0041t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0047t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0052t0001 | 0/0 | 12835 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0002c0054t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0003c0002t0001 | 0/0 | 12835 | 25 | 0 | 0 | 22 | 0 | 3 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0003t0002 | 0/0 | 12835 | 22 | 2 | 14 | 0 | 1 | 5 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0043t0002 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0004c0053t0002 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0005c0005t0001 | 0/0 | 12841 | 12 | 2 | 7 | 3 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0005c0058t0001 | 0/0 | 12841 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0006c0007t0001 | 0/0 | 12838 | 7 | 6 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0006c0010t0001 | 0/0 | 12838 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0007c0006t0001 | 0/0 | 12850 | 11 | 2 | 4 | 4 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0008c0008t0001 | 0/0 | 12838 | 6 | 5 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0009c0013t0001 | 0/0 | 12835 | 4 | 4 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0009c0026t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0010c0009t0001 | 0/0 | 12841 | 6 | 3 | 2 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0022t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0024t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0011c0048t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0012c0012t0001 | 0/0 | 12835 | 4 | 3 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0013c0014t0001 | 0/0 | 12844 | 4 | 2 | 0 | 1 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0014c0021t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0014c0039t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0015c0015t0001 | 0/1 | 12847 | 3 | 0 | 0 | 0 | 1 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0016c0016t0001 | 0/0 | 12847 | 2 | 0 | 0 | 2 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0016c0016t0005 | 0/0 | 12847 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0017c0017t0003 | 0/0 | 12829 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0018c0025t0001 | 0/0 | 12835 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0019c0018t0001 | 0/0 | 12835 | 2 | 1 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0020c0019t0002 | 0/0 | 12835 | 2 | 0 | 1 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0021c0029t0001 | 0/0 | 12838 | 2 | 2 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0022c0028t0001 | 0/0 | 12838 | 2 | 0 | 0 | 2 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0023c0027t0001 | 0/0 | 12841 | 2 | 0 | 1 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0024c0030t0001 | 0/0 | 12829 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0025c0031t0001 | 0/0 | 12829 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0026c0057t0001 | 0/0 | 12838 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0027c0032t0001 | 0/0 | 12838 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0028c0033t0001 | 0/0 | 12838 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0029c0056t0002 | 0/0 | 12835 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0030c0038t0001 | 0/0 | 12835 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0031c0042t0002 | 0/0 | 12835 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0032c0046t0001 | 0/0 | 12835 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0033c0055t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0034c0049t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0035c0050t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0036c0045t0002 | 0/0 | 12835 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0037c0044t0002 | 0/0 | 12835 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0038c0051t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0039c0037t0001 | 0/0 | 12835 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0040c0036t0001 | 0/0 | 12835 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0041c0035t0001 | 0/0 | 12835 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0042c0034t0001 | 0/0 | 12838 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0043c0062t0001 | 0/0 | 12841 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0044c0064t0001 | 0/0 | 12841 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0045c0063t0001 | 0/0 | 12841 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0046c0065t0001 | 0/0 | 12841 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0047c0061t0001 | 0/0 | 12841 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0048c0059t0001 | 0/0 | 12844 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0049c0060t0001 | 1/0 | 12844 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0050c0067t0001 | 0/0 | 12847 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0051c0068t0001 | 0/0 | 12847 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0052c0071t0001 | 0/0 | 12847 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0053c0070t0001 | 0/0 | 12847 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0054c0069t0001 | 0/0 | 12847 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0055c0072t0001 | 0/0 | 12847 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0056c0073t0001 | 0/0 | 12847 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0057c0075t0001 | 0/0 | 12847 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0058c0074t0001 | 0/0 | 12850 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| a0059c0076t0001 | 0/0 | 12856 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | copy fasta | chr2 | 73380836 | 73614916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0001t0004g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0001c0066t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0004t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0011t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0011t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0011t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0011t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0020t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0020t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0023t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0023t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0040t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0041t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0047t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0052t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0002c0054t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0003c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0003t0002g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0043t0002g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0004c0053t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0005t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0005c0058t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0007t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0010t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0010t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0010t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0006c0010t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0007c0006t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0008c0008t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0013t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0013t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0013t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0013t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0026t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0009c0026t0001g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0010c0009t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0011c0022t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0011c0022t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0011c0024t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0011c0024t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0011c0048t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0012c0012t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0012c0012t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0012c0012t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0012c0012t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0013c0014t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0013c0014t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0013c0014t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0013c0014t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0014c0021t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0014c0021t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0014c0039t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0015c0015t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0015c0015t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0015c0015t0001g0214 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0016c0016t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0016c0016t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0016c0016t0005g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0017c0017t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0017c0017t0003g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0018c0025t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0018c0025t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0019c0018t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0019c0018t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0020c0019t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0020c0019t0002g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0021c0029t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0021c0029t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0022c0028t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0022c0028t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0023c0027t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0023c0027t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0024c0030t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0025c0031t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0026c0057t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0027c0032t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0028c0033t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0029c0056t0002g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0030c0038t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0031c0042t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0032c0046t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0033c0055t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0034c0049t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0035c0050t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0036c0045t0002g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0037c0044t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0038c0051t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0039c0037t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0040c0036t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0041c0035t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0042c0034t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0043c0062t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0044c0064t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0045c0063t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0046c0065t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0047c0061t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0048c0059t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0049c0060t0001g0189 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0050c0067t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0051c0068t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0052c0071t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0053c0070t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0054c0069t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0055c0072t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0056c0073t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0057c0075t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0058c0074t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| a0059c0076t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0157 | EUR | GBR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00099 | hp2 | a0002 | c0011 | t0001 | g0004 | EUR | GBR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00280 | hp1 | a0015 | c0015 | t0001 | g0181 | EUR | FIN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00280 | hp2 | a0002 | c0011 | t0001 | g0006 | EUR | FIN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00323 | hp1 | a0002 | c0011 | t0001 | g0042 | EUR | FIN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0171 | EUR | FIN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | CHS | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | CHS | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | CHS | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00621 | hp2 | a0003 | c0002 | t0001 | g0093 | EAS | CHS | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00642 | hp2 | a0005 | c0005 | t0001 | g0109 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00735 | hp1 | a0008 | c0008 | t0001 | g0237 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00738 | hp1 | a0019 | c0018 | t0001 | g0057 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG00738 | hp2 | a0007 | c0006 | t0001 | g0148 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01069 | hp1 | a0001 | c0001 | t0004 | g0133 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01069 | hp2 | a0004 | c0003 | t0002 | g0067 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0165 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01070 | hp2 | a0004 | c0003 | t0002 | g0066 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01081 | hp1 | a0001 | c0066 | t0001 | g0135 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01099 | hp2 | a0006 | c0007 | t0001 | g0100 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01106 | hp1 | a0056 | c0073 | t0001 | g0123 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01106 | hp2 | a0010 | c0009 | t0001 | g0188 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01109 | hp1 | a0002 | c0004 | t0001 | g0052 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01109 | hp2 | a0004 | c0003 | t0002 | g0065 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01167 | hp1 | a0004 | c0003 | t0002 | g0073 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01169 | hp1 | a0004 | c0003 | t0002 | g0081 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01169 | hp2 | a0052 | c0071 | t0001 | g0140 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01175 | hp1 | a0004 | c0003 | t0002 | g0070 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01192 | hp1 | a0010 | c0009 | t0001 | g0169 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01243 | hp1 | a0032 | c0046 | t0001 | g0230 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01243 | hp2 | a0044 | c0064 | t0001 | g0049 | AMR | PUR | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01256 | hp2 | a0029 | c0056 | t0002 | g0087 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01257 | hp1 | a0004 | c0003 | t0002 | g0086 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01257 | hp2 | a0007 | c0006 | t0001 | g0173 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01261 | hp1 | a0048 | c0059 | t0001 | g0155 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01261 | hp2 | a0030 | c0038 | t0001 | g0055 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01346 | hp1 | a0023 | c0027 | t0001 | g0161 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01346 | hp2 | a0004 | c0003 | t0002 | g0084 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01361 | hp1 | a0012 | c0012 | t0001 | g0209 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01361 | hp2 | a0004 | c0003 | t0002 | g0069 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01433 | hp1 | a0007 | c0006 | t0001 | g0152 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01433 | hp2 | a0005 | c0005 | t0001 | g0114 | AMR | CLM | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01884 | hp1 | a0002 | c0004 | t0001 | g0046 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01884 | hp2 | a0006 | c0010 | t0001 | g0096 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01891 | hp1 | a0006 | c0010 | t0001 | g0097 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01891 | hp2 | a0002 | c0004 | t0001 | g0034 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01928 | hp1 | a0004 | c0003 | t0002 | g0085 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01928 | hp2 | a0005 | c0005 | t0001 | g0107 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01943 | hp1 | a0005 | c0058 | t0001 | g0110 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01943 | hp2 | a0004 | c0003 | t0002 | g0064 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01952 | hp2 | a0004 | c0003 | t0002 | g0071 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01975 | hp1 | a0002 | c0011 | t0001 | g0041 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0167 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01981 | hp2 | a0004 | c0003 | t0002 | g0068 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01993 | hp1 | a0005 | c0005 | t0001 | g0111 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG01993 | hp2 | a0007 | c0006 | t0001 | g0163 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02004 | hp1 | a0004 | c0003 | t0002 | g0083 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02004 | hp2 | a0005 | c0005 | t0001 | g0117 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02055 | hp1 | a0002 | c0040 | t0001 | g0206 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02055 | hp2 | a0017 | c0017 | t0003 | g0225 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02056 | hp1 | a0023 | c0027 | t0001 | g0007 | EAS | KHV | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02056 | hp2 | a0007 | c0006 | t0001 | g0131 | EAS | KHV | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | KHV | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02071 | hp2 | a0003 | c0002 | t0001 | g0013 | EAS | KHV | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02145 | hp1 | a0006 | c0007 | t0001 | g0098 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02145 | hp2 | a0013 | c0014 | t0001 | g0164 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02257 | hp1 | a0034 | c0049 | t0001 | g0039 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02257 | hp2 | a0047 | c0061 | t0001 | g0183 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02258 | hp1 | a0004 | c0043 | t0002 | g0082 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02258 | hp2 | a0007 | c0006 | t0001 | g0158 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02293 | hp1 | a0005 | c0005 | t0001 | g0118 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02300 | hp1 | a0005 | c0005 | t0001 | g0106 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02300 | hp2 | a0020 | c0019 | t0002 | g0075 | AMR | PEL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02451 | hp1 | a0004 | c0003 | t0002 | g0072 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02451 | hp2 | a0028 | c0033 | t0001 | g0238 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02572 | hp1 | a0010 | c0009 | t0001 | g0185 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02572 | hp2 | a0006 | c0010 | t0001 | g0103 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02602 | hp1 | a0004 | c0003 | t0002 | g0074 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02602 | hp2 | a0015 | c0015 | t0001 | g0190 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02615 | hp1 | a0002 | c0004 | t0001 | g0033 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02615 | hp2 | a0012 | c0012 | t0001 | g0203 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02622 | hp1 | a0011 | c0048 | t0001 | g0197 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02622 | hp2 | a0035 | c0050 | t0001 | g0246 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02630 | hp1 | a0006 | c0007 | t0001 | g0101 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02630 | hp2 | a0002 | c0004 | t0001 | g0035 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02647 | hp1 | a0011 | c0022 | t0001 | g0199 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02647 | hp2 | a0009 | c0026 | t0001 | g0243 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0176 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02683 | hp2 | a0002 | c0052 | t0001 | g0040 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02698 | hp1 | a0004 | c0003 | t0002 | g0077 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02698 | hp2 | a0003 | c0002 | t0001 | g0024 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02717 | hp1 | a0018 | c0025 | t0001 | g0053 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02717 | hp2 | a0025 | c0031 | t0001 | g0226 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02735 | hp1 | a0007 | c0006 | t0001 | g0127 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02735 | hp2 | a0020 | c0019 | t0002 | g0090 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02809 | hp1 | a0057 | c0075 | t0001 | g0215 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02809 | hp2 | a0004 | c0003 | t0002 | g0088 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02818 | hp1 | a0009 | c0026 | t0001 | g0241 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02818 | hp2 | a0026 | c0057 | t0001 | g0105 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02886 | hp1 | a0006 | c0007 | t0001 | g0102 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02886 | hp2 | a0021 | c0029 | t0001 | g0121 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02895 | hp1 | a0008 | c0008 | t0001 | g0234 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02895 | hp2 | a0006 | c0007 | t0001 | g0228 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02896 | hp1 | a0011 | c0022 | t0001 | g0200 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02896 | hp2 | a0008 | c0008 | t0001 | g0231 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02897 | hp1 | a0006 | c0007 | t0001 | g0229 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02897 | hp2 | a0008 | c0008 | t0001 | g0232 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02965 | hp1 | a0002 | c0047 | t0001 | g0047 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02965 | hp2 | a0008 | c0008 | t0001 | g0235 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02970 | hp1 | a0002 | c0023 | t0001 | g0196 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02970 | hp2 | a0012 | c0012 | t0001 | g0204 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02976 | hp1 | a0005 | c0005 | t0001 | g0116 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02976 | hp2 | a0006 | c0010 | t0001 | g0104 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03017 | hp1 | a0003 | c0002 | t0001 | g0022 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03041 | hp1 | a0018 | c0025 | t0001 | g0054 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03041 | hp2 | a0008 | c0008 | t0001 | g0233 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03098 | hp1 | a0009 | c0013 | t0001 | g0244 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03098 | hp2 | a0012 | c0012 | t0001 | g0202 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03139 | hp1 | a0006 | c0007 | t0001 | g0099 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03139 | hp2 | a0002 | c0020 | t0001 | g0208 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03195 | hp1 | a0011 | c0024 | t0001 | g0194 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03195 | hp2 | a0027 | c0032 | t0001 | g0236 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03209 | hp1 | a0002 | c0041 | t0001 | g0094 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03209 | hp2 | a0014 | c0021 | t0001 | g0043 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03225 | hp1 | a0002 | c0004 | t0001 | g0036 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03225 | hp2 | a0039 | c0037 | t0001 | g0032 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03453 | hp1 | a0002 | c0023 | t0001 | g0195 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03453 | hp2 | a0002 | c0004 | t0001 | g0037 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03486 | hp1 | a0009 | c0013 | t0001 | g0245 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03486 | hp2 | a0045 | c0063 | t0001 | g0191 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03516 | hp1 | a0038 | c0051 | t0001 | g0210 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03516 | hp2 | a0019 | c0018 | t0001 | g0056 | AFR | ESN | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03540 | hp1 | a0017 | c0017 | t0003 | g0224 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03540 | hp2 | a0005 | c0005 | t0001 | g0115 | AFR | GWD | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03579 | hp1 | a0009 | c0013 | t0001 | g0242 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03579 | hp2 | a0002 | c0004 | t0001 | g0031 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0213 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03669 | hp2 | a0036 | c0045 | t0002 | g0062 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03688 | hp1 | a0053 | c0070 | t0001 | g0139 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03688 | hp2 | a0004 | c0003 | t0002 | g0078 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03710 | hp1 | a0051 | c0068 | t0001 | g0128 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03927 | hp1 | a0003 | c0002 | t0001 | g0092 | SAS | BEB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0192 | SAS | BEB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG04199 | hp1 | a0058 | c0074 | t0001 | g0147 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG04199 | hp2 | a0004 | c0003 | t0002 | g0091 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0149 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG04204 | hp2 | a0004 | c0003 | t0002 | g0076 | SAS | STU | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18522 | hp1 | a0002 | c0004 | t0001 | g0247 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18522 | hp2 | a0002 | c0004 | t0001 | g0051 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18906 | hp1 | a0010 | c0009 | t0001 | g0168 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18906 | hp2 | a0002 | c0004 | t0001 | g0239 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18941 | hp1 | a0007 | c0006 | t0001 | g0211 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18941 | hp2 | a0003 | c0002 | t0001 | g0011 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18944 | hp1 | a0003 | c0002 | t0001 | g0030 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18945 | hp1 | a0042 | c0034 | t0001 | g0025 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18945 | hp2 | a0003 | c0002 | t0001 | g0058 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18947 | hp1 | a0016 | c0016 | t0001 | g0220 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18947 | hp2 | a0003 | c0002 | t0001 | g0015 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18948 | hp1 | a0003 | c0002 | t0001 | g0020 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18950 | hp1 | a0055 | c0072 | t0001 | g0177 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18950 | hp2 | a0022 | c0028 | t0001 | g0010 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18952 | hp1 | a0031 | c0042 | t0002 | g0089 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18954 | hp2 | a0003 | c0002 | t0001 | g0060 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18956 | hp1 | a0016 | c0016 | t0005 | g0222 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18956 | hp2 | a0003 | c0002 | t0001 | g0029 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18962 | hp1 | a0003 | c0002 | t0001 | g0017 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18962 | hp2 | a0013 | c0014 | t0001 | g0180 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18966 | hp1 | a0005 | c0005 | t0001 | g0108 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18966 | hp2 | a0050 | c0067 | t0001 | g0223 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18969 | hp2 | a0003 | c0002 | t0001 | g0063 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18971 | hp2 | a0022 | c0028 | t0001 | g0009 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18977 | hp2 | a0003 | c0002 | t0001 | g0008 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18983 | hp1 | a0003 | c0002 | t0001 | g0014 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18985 | hp2 | a0003 | c0002 | t0001 | g0061 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18989 | hp1 | a0003 | c0002 | t0001 | g0023 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18990 | hp1 | a0007 | c0006 | t0001 | g0142 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18990 | hp2 | a0003 | c0002 | t0001 | g0012 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18994 | hp1 | a0007 | c0006 | t0001 | g0166 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18994 | hp2 | a0003 | c0002 | t0001 | g0019 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18998 | hp1 | a0054 | c0069 | t0001 | g0162 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA18998 | hp2 | a0003 | c0002 | t0001 | g0026 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19000 | hp1 | a0003 | c0002 | t0001 | g0028 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19003 | hp1 | a0003 | c0002 | t0001 | g0018 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19009 | hp2 | a0010 | c0009 | t0001 | g0187 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19030 | hp1 | a0046 | c0065 | t0001 | g0205 | AFR | LWK | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19030 | hp2 | a0024 | c0030 | t0001 | g0227 | AFR | LWK | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19043 | hp1 | a0033 | c0055 | t0001 | g0201 | AFR | LWK | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19043 | hp2 | a0009 | c0013 | t0001 | g0240 | AFR | LWK | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19058 | hp1 | a0037 | c0044 | t0002 | g0079 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19074 | hp1 | a0059 | c0076 | t0001 | g0003 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19074 | hp2 | a0003 | c0002 | t0001 | g0059 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19079 | hp1 | a0005 | c0005 | t0001 | g0113 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19081 | hp1 | a0005 | c0005 | t0001 | g0112 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19081 | hp2 | a0040 | c0036 | t0001 | g0027 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19089 | hp1 | a0003 | c0002 | t0001 | g0021 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19089 | hp2 | a0016 | c0016 | t0001 | g0221 | EAS | JPT | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19240 | hp1 | a0014 | c0021 | t0001 | g0044 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA19240 | hp2 | a0021 | c0029 | t0001 | g0119 | AFR | YRI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20129 | hp1 | a0043 | c0062 | t0001 | g0120 | AFR | ASW | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20129 | hp2 | a0002 | c0054 | t0001 | g0193 | AFR | ASW | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20752 | hp1 | a0004 | c0003 | t0002 | g0080 | EUR | TSI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0174 | EUR | TSI | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20905 | hp1 | a0013 | c0014 | t0001 | g0129 | SAS | GIH | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20905 | hp2 | a0041 | c0035 | t0001 | g0016 | SAS | GIH | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02486 | hp1 | a0013 | c0014 | t0001 | g0172 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02486 | hp2 | a0002 | c0004 | t0001 | g0005 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02559 | hp1 | a0007 | c0006 | t0001 | g0122 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG02559 | hp2 | a0014 | c0039 | t0001 | g0045 | AFR | ACB | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03471 | hp1 | a0010 | c0009 | t0001 | g0184 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG03471 | hp2 | a0002 | c0004 | t0001 | g0038 | AFR | MSL | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG06807 | hp1 | a0002 | c0004 | t0001 | g0048 | AFR | USA | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| HG06807 | hp2 | a0011 | c0024 | t0001 | g0198 | AFR | USA | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20300 | hp1 | a0002 | c0020 | t0001 | g0207 | AFR | USA | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| NA20300 | hp2 | a0004 | c0053 | t0002 | g0050 | AFR | USA | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| homoSapiens_chm13v2 | hp1 | a0015 | c0015 | t0001 | g0214 | REF | REF | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| homoSapiens_grch38 | hp1 | a0049 | c0060 | t0001 | g0189 | REF | REF | ALMS1_chr2_73380836_73614916 | ALMS1 | chr2 | 73380836 | 73614916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:73385903
|
T | TGGA | 10 | a0001a0015a0016others(7): Show | 60 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(57): Show |
disruptive_inframe_insertion | MODERATE | c.72_74dupGGA | p.Glu25dup | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73385903
|
T | TGGAGGA | 3 | a0007a0057a0058 | 13 | HG00738.hp2 HG01257.hp2 HG01433.hp1 others(10): Show |
disruptive_inframe_insertion | MODERATE | c.69_74dupGGAGGA | p.Glu24_Glu25dup | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73385903
|
T | TGGAGGAG others(5): Show |
1 | a0059 | 1 | NA19074.hp1 | disruptive_inframe_insertion | MODERATE | c.63_74dupGGAGGAGGAG others(2): Show |
p.Glu22_Glu25dup | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73385903
|
TGGA | T | 4 | a0005a0021a0022others(1): Show | 19 | HG00642.hp2 HG01346.hp1 HG01433.hp2 others(16): Show |
disruptive_inframe_deletion | MODERATE | c.72_74delGGA | p.Glu25del | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 105/12844 | 72/12507 | 24/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73385903
|
TGGAGGA | T | 29 | a0002a0003a0004others(26): Show | 134 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
disruptive_inframe_deletion | MODERATE | c.69_74delGGAGGA | p.Glu24_Glu25del | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 102/12844 | 69/12507 | 23/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73385903
|
TGGAGGAG others(8): Show |
T | 3 | a0017a0024a0025 | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
disruptive_inframe_deletion | MODERATE | c.60_74delGGAGGAGGAG others(5): Show |
p.Glu21_Glu25del | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 93/12844 | 60/12507 | 20/4168 | INFO_REALIGN_3_PRIME | chr2 | 73385903 | |
| chr2:73408726
|
G | T | 1 | a0026 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.429G>T | p.Gln143His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/23 | 462/12844 | 429/12507 | 143/4168 | chr2 | 73408726 | ||
| chr2:73422881
|
C | A | 3 | a0008a0027a0028 | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
missense_variant | MODERATE | c.671C>A | p.Pro224His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/23 | 704/12844 | 671/12507 | 224/4168 | chr2 | 73422881 | ||
| chr2:73424809
|
A | G | 1 | a0009 | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
missense_variant | MODERATE | c.1144A>G | p.Thr382Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/23 | 1177/12844 | 1144/12507 | 382/4168 | chr2 | 73424809 | ||
| chr2:73424839
|
C | T | 33 | a0002a0004a0005others(30): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
missense_variant | MODERATE | c.1174C>T | p.Arg392Cys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/23 | 1207/12844 | 1174/12507 | 392/4168 | chr2 | 73424839 | ||
| chr2:73447980
|
A | G | 1 | a0056 | 1 | HG01106.hp1 | missense_variant | MODERATE | c.1453A>G | p.Ile485Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1486/12844 | 1453/12507 | 485/4168 | chr2 | 73447980 | ||
| chr2:73448043
|
A | T | 1 | a0018 | 2 | HG02717.hp1 HG03041.hp1 |
missense_variant | MODERATE | c.1516A>T | p.Ile506Phe | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1549/12844 | 1516/12507 | 506/4168 | chr2 | 73448043 | ||
| chr2:73448097
|
TCTC | T | 32 | a0002a0003a0004others(29): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
disruptive_inframe_deletion | MODERATE | c.1574_1576delCTC | p.Pro525del | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1607/12844 | 1574/12507 | 525/4168 | INFO_REALIGN_3_PRIME | chr2 | 73448097 | |
| chr2:73448304
|
C | T | 1 | a0046 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.1777C>T | p.His593Tyr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1810/12844 | 1777/12507 | 593/4168 | chr2 | 73448304 | ||
| chr2:73448542
|
T | G | 50 | a0001a0002a0004others(47): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
missense_variant | MODERATE | c.2015T>G | p.Val672Gly | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2048/12844 | 2015/12507 | 672/4168 | chr2 | 73448542 | ||
| chr2:73448563
|
A | G | 1 | a0029 | 1 | HG01256.hp2 | missense_variant | MODERATE | c.2036A>G | p.Tyr679Cys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2069/12844 | 2036/12507 | 679/4168 | chr2 | 73448563 | ||
| chr2:73448881
|
A | G | 2 | a0016a0042 | 4 | NA18945.hp1 NA18947.hp1 NA18956.hp1 others(1): Show |
missense_variant | MODERATE | c.2354A>G | p.Glu785Gly | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2387/12844 | 2354/12507 | 785/4168 | chr2 | 73448881 | ||
| chr2:73449589
|
A | T | 1 | a0039 | 1 | HG03225.hp2 | missense_variant | MODERATE | c.3062A>T | p.Tyr1021Phe | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 3095/12844 | 3062/12507 | 1021/4168 | chr2 | 73449589 | ||
| chr2:73449720
|
T | C | 2 | a0019a0030 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
missense_variant | MODERATE | c.3193T>C | p.Ser1065Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 3226/12844 | 3193/12507 | 1065/4168 | chr2 | 73449720 | ||
| chr2:73450681
|
C | G | 3 | a0008a0027a0028 | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
missense_variant | MODERATE | c.4154C>G | p.Thr1385Arg | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4187/12844 | 4154/12507 | 1385/4168 | chr2 | 73450681 | ||
| chr2:73450771
|
G | C | 33 | a0002a0004a0005others(30): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
missense_variant | MODERATE | c.4244G>C | p.Gly1415Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4277/12844 | 4244/12507 | 1415/4168 | chr2 | 73450771 | ||
| chr2:73450927
|
G | T | 1 | a0038 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.4400G>T | p.Gly1467Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4433/12844 | 4400/12507 | 1467/4168 | chr2 | 73450927 | ||
| chr2:73451489
|
G | T | 1 | a0005 | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
missense_variant | MODERATE | c.4962G>T | p.Lys1654Asn | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4995/12844 | 4962/12507 | 1654/4168 | chr2 | 73451489 | ||
| chr2:73451515
|
C | T | 1 | a0057 | 1 | HG02809.hp1 | missense_variant | MODERATE | c.4988C>T | p.Thr1663Ile | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5021/12844 | 4988/12507 | 1663/4168 | chr2 | 73451515 | ||
| chr2:73451886
|
A | G | 1 | a0015 | 3 | HG00280.hp1 HG02602.hp2 homoSapiens_chm13v2.hp1 |
missense_variant | MODERATE | c.5359A>G | p.Asn1787Asp | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5392/12844 | 5359/12507 | 1787/4168 | chr2 | 73451886 | ||
| chr2:73451960
|
G | C | 1 | a0017 | 2 | HG02055.hp2 HG03540.hp1 |
missense_variant | MODERATE | c.5433G>C | p.Lys1811Asn | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5466/12844 | 5433/12507 | 1811/4168 | chr2 | 73451960 | ||
| chr2:73452153
|
A | G | 31 | a0002a0004a0005others(28): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
missense_variant | MODERATE | c.5626A>G | p.Ile1876Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5659/12844 | 5626/12507 | 1876/4168 | chr2 | 73452153 | ||
| chr2:73452313
|
G | A | 1 | a0005 | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
missense_variant | MODERATE | c.5786G>A | p.Arg1929Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5819/12844 | 5786/12507 | 1929/4168 | chr2 | 73452313 | ||
| chr2:73452355
|
G | A | 1 | a0031 | 1 | NA18952.hp1 | missense_variant | MODERATE | c.5828G>A | p.Arg1943His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5861/12844 | 5828/12507 | 1943/4168 | chr2 | 73452355 | ||
| chr2:73452739
|
T | C | 6 | a0004a0020a0029others(3): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
missense_variant | MODERATE | c.6212T>C | p.Ile2071Thr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6245/12844 | 6212/12507 | 2071/4168 | chr2 | 73452739 | ||
| chr2:73452829
|
C | T | 1 | a0020 | 2 | HG02300.hp2 HG02735.hp2 |
missense_variant | MODERATE | c.6302C>T | p.Ser2101Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6335/12844 | 6302/12507 | 2101/4168 | chr2 | 73452829 | ||
| chr2:73452863
|
T | A | 33 | a0002a0004a0005others(30): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
missense_variant | MODERATE | c.6336T>A | p.Ser2112Arg | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6369/12844 | 6336/12507 | 2112/4168 | chr2 | 73452863 | ||
| chr2:73452991
|
A | G | 2 | a0021a0043 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.6464A>G | p.Asp2155Gly | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6497/12844 | 6464/12507 | 2155/4168 | chr2 | 73452991 | ||
| chr2:73453080
|
C | T | 1 | a0017 | 2 | HG02055.hp2 HG03540.hp1 |
missense_variant | MODERATE | c.6553C>T | p.Pro2185Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6586/12844 | 6553/12507 | 2185/4168 | chr2 | 73453080 | ||
| chr2:73453102
|
G | A | 1 | a0050 | 1 | NA18966.hp2 | missense_variant | MODERATE | c.6575G>A | p.Gly2192Asp | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6608/12844 | 6575/12507 | 2192/4168 | chr2 | 73453102 | ||
| chr2:73453279
|
A | G | 2 | a0035a0045 | 2 | HG02622.hp2 HG03486.hp2 |
missense_variant | MODERATE | c.6752A>G | p.Asp2251Gly | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6785/12844 | 6752/12507 | 2251/4168 | chr2 | 73453279 | ||
| chr2:73453326
|
A | G | 1 | a0055 | 1 | NA18950.hp1 | missense_variant | MODERATE | c.6799A>G | p.Met2267Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6832/12844 | 6799/12507 | 2267/4168 | chr2 | 73453326 | ||
| chr2:73453339
|
A | G | 1 | a0034 | 1 | HG02257.hp1 | missense_variant | MODERATE | c.6812A>G | p.Asn2271Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6845/12844 | 6812/12507 | 2271/4168 | chr2 | 73453339 | ||
| chr2:73453381
|
G | C | 33 | a0002a0004a0005others(30): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
missense_variant | MODERATE | c.6854G>C | p.Arg2285Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6887/12844 | 6854/12507 | 2285/4168 | chr2 | 73453381 | ||
| chr2:73453795
|
A | G | 2 | a0021a0043 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
missense_variant | MODERATE | c.7268A>G | p.Asn2423Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 7301/12844 | 7268/12507 | 2423/4168 | chr2 | 73453795 | ||
| chr2:73455204
|
C | T | 1 | a0047 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.7583C>T | p.Ser2528Phe | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/23 | 7616/12844 | 7583/12507 | 2528/4168 | chr2 | 73455204 | ||
| chr2:73489683
|
G | A | 8 | a0003a0010a0022others(5): Show | 38 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(35): Show |
missense_variant | MODERATE | c.7724G>A | p.Ser2575Asn | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 7757/12844 | 7724/12507 | 2575/4168 | chr2 | 73489683 | ||
| chr2:73489976
|
G | C | 10 | a0003a0010a0021others(7): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
missense_variant | MODERATE | c.8017G>C | p.Asp2673His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8050/12844 | 8017/12507 | 2673/4168 | chr2 | 73489976 | ||
| chr2:73490237
|
C | T | 1 | a0033 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.8278C>T | p.Pro2760Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8311/12844 | 8278/12507 | 2760/4168 | chr2 | 73490237 | ||
| chr2:73490280
|
T | G | 1 | a0051 | 1 | HG03710.hp1 | missense_variant | MODERATE | c.8321T>G | p.Phe2774Cys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8354/12844 | 8321/12507 | 2774/4168 | chr2 | 73490280 | ||
| chr2:73490440
|
G | T | 31 | a0002a0004a0005others(28): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
missense_variant | MODERATE | c.8481G>T | p.Arg2827Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8514/12844 | 8481/12507 | 2827/4168 | chr2 | 73490440 | ||
| chr2:73490508
|
C | T | 1 | a0047 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.8549C>T | p.Pro2850Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8582/12844 | 8549/12507 | 2850/4168 | chr2 | 73490508 | ||
| chr2:73490529
|
A | G | 31 | a0002a0004a0005others(28): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
missense_variant | MODERATE | c.8570A>G | p.Asn2857Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8603/12844 | 8570/12507 | 2857/4168 | chr2 | 73490529 | ||
| chr2:73490963
|
A | C | 1 | a0028 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.9004A>C | p.Lys3002Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 9037/12844 | 9004/12507 | 3002/4168 | chr2 | 73490963 | ||
| chr2:73491059
|
G | C | 1 | a0041 | 1 | NA20905.hp2 | missense_variant | MODERATE | c.9100G>C | p.Ala3034Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 9133/12844 | 9100/12507 | 3034/4168 | chr2 | 73491059 | ||
| chr2:73519852
|
C | T | 1 | a0048 | 1 | HG01261.hp1 | missense_variant | MODERATE | c.9617C>T | p.Thr3206Ile | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9650/12844 | 9617/12507 | 3206/4168 | chr2 | 73519852 | ||
| chr2:73519968
|
G | A | 1 | a0040 | 1 | NA19081.hp2 | missense_variant | MODERATE | c.9733G>A | p.Ala3245Thr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9766/12844 | 9733/12507 | 3245/4168 | chr2 | 73519968 | ||
| chr2:73520002
|
C | G | 1 | a0036 | 1 | HG03669.hp2 | missense_variant | MODERATE | c.9767C>G | p.Ser3256Cys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9800/12844 | 9767/12507 | 3256/4168 | chr2 | 73520002 | ||
| chr2:73534928
|
A | G | 1 | a0014 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
missense_variant | MODERATE | c.9886A>G | p.Thr3296Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/23 | 9919/12844 | 9886/12507 | 3296/4168 | chr2 | 73534928 | ||
| chr2:73550273
|
A | G | 2 | a0036a0037 | 2 | HG03669.hp2 NA19058.hp1 |
missense_variant | MODERATE | c.9914A>G | p.Asn3305Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/23 | 9947/12844 | 9914/12507 | 3305/4168 | chr2 | 73550273 | ||
| chr2:73559030
|
G | C | 2 | a0012a0046 | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
missense_variant | MODERATE | c.10272G>C | p.Lys3424Asn | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/23 | 10305/12844 | 10272/12507 | 3424/4168 | chr2 | 73559030 | ||
| chr2:73559061
|
A | G | 1 | a0011 | 5 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
missense_variant | MODERATE | c.10303A>G | p.Lys3435Glu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/23 | 10336/12844 | 10303/12507 | 3435/4168 | chr2 | 73559061 | ||
| chr2:73572505
|
C | G | 1 | a0052 | 1 | HG01169.hp2 | missense_variant | MODERATE | c.10628C>G | p.Thr3543Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10661/12844 | 10628/12507 | 3543/4168 | chr2 | 73572505 | ||
| chr2:73572528
|
A | G | 1 | a0038 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.10651A>G | p.Asn3551Asp | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10684/12844 | 10651/12507 | 3551/4168 | chr2 | 73572528 | ||
| chr2:73572628
|
A | T | 1 | a0032 | 1 | HG01243.hp1 | missense_variant | MODERATE | c.10751A>T | p.Gln3584Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10784/12844 | 10751/12507 | 3584/4168 | chr2 | 73572628 | ||
| chr2:73572651
|
A | G | 1 | a0030 | 1 | HG01261.hp2 | missense_variant | MODERATE | c.10774A>G | p.Thr3592Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10807/12844 | 10774/12507 | 3592/4168 | chr2 | 73572651 | ||
| chr2:73572769
|
G | A | 1 | a0024 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.10892G>A | p.Arg3631His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10925/12844 | 10892/12507 | 3631/4168 | chr2 | 73572769 | ||
| chr2:73572931
|
G | A | 4 | a0008a0017a0027others(1): Show | 10 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
missense_variant | MODERATE | c.11054G>A | p.Ser3685Asn | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 11087/12844 | 11054/12507 | 3685/4168 | chr2 | 73572931 | ||
| chr2:73572994
|
C | G | 2 | a0053a0058 | 2 | HG03688.hp1 HG04199.hp1 |
missense_variant | MODERATE | c.11117C>G | p.Ser3706Cys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 11150/12844 | 11117/12507 | 3706/4168 | chr2 | 73572994 | ||
| chr2:73573143
|
G | A | 2 | a0006a0026 | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
missense_variant | MODERATE | c.11266G>A | p.Gly3756Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 11299/12844 | 11266/12507 | 3756/4168 | chr2 | 73573143 | ||
| chr2:73599437
|
T | C | 1 | a0025 | 1 | HG02717.hp2 | missense_variant | MODERATE | c.11584T>C | p.Ser3862Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/23 | 11617/12844 | 11584/12507 | 3862/4168 | chr2 | 73599437 | ||
| chr2:73600830
|
G | A | 2 | a0024a0025 | 2 | HG02717.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.11821G>A | p.Gly3941Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 18/23 | 11854/12844 | 11821/12507 | 3941/4168 | chr2 | 73600830 | ||
| chr2:73601411
|
G | A | 24 | a0001a0005a0006others(21): Show | 116 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show |
missense_variant | MODERATE | c.12089G>A | p.Arg4030Lys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/23 | 12122/12844 | 12089/12507 | 4030/4168 | chr2 | 73601411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:73448426
|
A | G | 2 | a0012c0012a0046c0065 | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
synonymous_variant | LOW | c.1899A>G | p.Gln633Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1932/12844 | 1899/12507 | 633/4168 | chr2 | 73448426 | ||
| chr2:73448717
|
C | T | 21 | a0001c0001a0001c0066a0006c0007others(18): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
synonymous_variant | LOW | c.2190C>T | p.Phe730Phe | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2223/12844 | 2190/12507 | 730/4168 | chr2 | 73448717 | ||
| chr2:73448846
|
G | A | 1 | a0006c0007 | 7 | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
synonymous_variant | LOW | c.2319G>A | p.Leu773Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2352/12844 | 2319/12507 | 773/4168 | chr2 | 73448846 | ||
| chr2:73449062
|
C | T | 7 | a0002c0023a0002c0054a0011c0022others(4): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
synonymous_variant | LOW | c.2535C>T | p.Asp845Asp | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2568/12844 | 2535/12507 | 845/4168 | chr2 | 73449062 | ||
| chr2:73449188
|
A | G | 2 | a0002c0023a0011c0024 | 4 | HG02970.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
synonymous_variant | LOW | c.2661A>G | p.Val887Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2694/12844 | 2661/12507 | 887/4168 | chr2 | 73449188 | ||
| chr2:73449257
|
C | T | 1 | a0009c0026 | 2 | HG02647.hp2 HG02818.hp1 |
synonymous_variant | LOW | c.2730C>T | p.His910His | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2763/12844 | 2730/12507 | 910/4168 | chr2 | 73449257 | ||
| chr2:73449291
|
C | T | 1 | a0004c0053 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.2764C>T | p.Leu922Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 2797/12844 | 2764/12507 | 922/4168 | chr2 | 73449291 | ||
| chr2:73450421
|
A | G | 8 | a0002c0011a0002c0052a0017c0017others(5): Show | 13 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
synonymous_variant | LOW | c.3894A>G | p.Gln1298Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 3927/12844 | 3894/12507 | 1298/4168 | chr2 | 73450421 | ||
| chr2:73450661
|
T | C | 1 | a0014c0039 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.4134T>C | p.Ser1378Ser | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4167/12844 | 4134/12507 | 1378/4168 | chr2 | 73450661 | ||
| chr2:73450706
|
A | G | 44 | a0002c0004a0002c0011a0002c0020others(41): Show | 117 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(114): Show |
synonymous_variant | LOW | c.4179A>G | p.Gln1393Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4212/12844 | 4179/12507 | 1393/4168 | chr2 | 73450706 | ||
| chr2:73450757
|
G | A | 1 | a0002c0040 | 1 | HG02055.hp1 | synonymous_variant | LOW | c.4230G>A | p.Ala1410Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4263/12844 | 4230/12507 | 1410/4168 | chr2 | 73450757 | ||
| chr2:73451132
|
A | G | 1 | a0004c0053 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.4605A>G | p.Gln1535Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 4638/12844 | 4605/12507 | 1535/4168 | chr2 | 73451132 | ||
| chr2:73451696
|
A | G | 3 | a0008c0008a0027c0032a0028c0033 | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
synonymous_variant | LOW | c.5169A>G | p.Gln1723Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5202/12844 | 5169/12507 | 1723/4168 | chr2 | 73451696 | ||
| chr2:73451990
|
G | A | 1 | a0002c0041 | 1 | HG03209.hp1 | synonymous_variant | LOW | c.5463G>A | p.Pro1821Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 5496/12844 | 5463/12507 | 1821/4168 | chr2 | 73451990 | ||
| chr2:73452509
|
G | A | 1 | a0001c0066 | 1 | HG01081.hp1 | synonymous_variant | LOW | c.5982G>A | p.Glu1994Glu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6015/12844 | 5982/12507 | 1994/4168 | chr2 | 73452509 | ||
| chr2:73453022
|
T | C | 1 | a0024c0030 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.6495T>C | p.Ala2165Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 6528/12844 | 6495/12507 | 2165/4168 | chr2 | 73453022 | ||
| chr2:73489861
|
C | T | 1 | a0046c0065 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.7902C>T | p.Asp2634Asp | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 7935/12844 | 7902/12507 | 2634/4168 | chr2 | 73489861 | ||
| chr2:73490701
|
A | G | 1 | a0004c0053 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.8742A>G | p.Val2914Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8775/12844 | 8742/12507 | 2914/4168 | chr2 | 73490701 | ||
| chr2:73490878
|
G | A | 1 | a0022c0028 | 2 | NA18950.hp2 NA18971.hp2 |
synonymous_variant | LOW | c.8919G>A | p.Ala2973Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/23 | 8952/12844 | 8919/12507 | 2973/4168 | chr2 | 73490878 | ||
| chr2:73519796
|
C | T | 33 | a0002c0004a0002c0011a0002c0023others(30): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
synonymous_variant | LOW | c.9561C>T | p.Thr3187Thr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9594/12844 | 9561/12507 | 3187/4168 | chr2 | 73519796 | ||
| chr2:73519943
|
G | A | 1 | a0039c0037 | 1 | HG03225.hp2 | synonymous_variant | LOW | c.9708G>A | p.Lys3236Lys | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9741/12844 | 9708/12507 | 3236/4168 | chr2 | 73519943 | ||
| chr2:73520012
|
A | C | 1 | a0048c0059 | 1 | HG01261.hp1 | synonymous_variant | LOW | c.9777A>C | p.Thr3259Thr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/23 | 9810/12844 | 9777/12507 | 3259/4168 | chr2 | 73520012 | ||
| chr2:73557350
|
T | A | 1 | a0005c0005 | 12 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(9): Show |
synonymous_variant | LOW | c.10209T>A | p.Thr3403Thr | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/23 | 10242/12844 | 10209/12507 | 3403/4168 | chr2 | 73557350 | ||
| chr2:73559060
|
G | A | 1 | a0002c0052 | 1 | HG02683.hp2 | synonymous_variant | LOW | c.10302G>A | p.Gln3434Gln | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/23 | 10335/12844 | 10302/12507 | 3434/4168 | chr2 | 73559060 | ||
| chr2:73559093
|
C | T | 3 | a0008c0008a0027c0032a0028c0033 | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
synonymous_variant | LOW | c.10335C>T | p.Pro3445Pro | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/23 | 10368/12844 | 10335/12507 | 3445/4168 | chr2 | 73559093 | ||
| chr2:73572341
|
A | G | 1 | a0002c0047 | 1 | HG02965.hp1 | synonymous_variant | LOW | c.10464A>G | p.Val3488Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 10497/12844 | 10464/12507 | 3488/4168 | chr2 | 73572341 | ||
| chr2:73573400
|
G | A | 3 | a0006c0007a0006c0010a0026c0057 | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
synonymous_variant | LOW | c.11523G>A | p.Glu3841Glu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/23 | 11556/12844 | 11523/12507 | 3841/4168 | chr2 | 73573400 | ||
| chr2:73599454
|
C | T | 1 | a0021c0029 | 2 | HG02886.hp2 NA19240.hp2 |
synonymous_variant | LOW | c.11601C>T | p.Phe3867Phe | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/23 | 11634/12844 | 11601/12507 | 3867/4168 | chr2 | 73599454 | ||
| chr2:73601199
|
T | C | 1 | a0004c0043 | 1 | HG02258.hp1 | synonymous_variant | LOW | c.11877T>C | p.Val3959Val | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/23 | 11910/12844 | 11877/12507 | 3959/4168 | chr2 | 73601199 | ||
| chr2:73602245
|
C | T | 40 | a0002c0004a0002c0011a0002c0023others(37): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
synonymous_variant | LOW | c.12175C>T | p.Leu4059Leu | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/23 | 12208/12844 | 12175/12507 | 4059/4168 | chr2 | 73602245 | ||
| chr2:73602304
|
A | T | 1 | a0024c0030 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.12234A>T | p.Ala4078Ala | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/23 | 12267/12844 | 12234/12507 | 4078/4168 | chr2 | 73602304 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:73385840
|
T | C | 1 | a0001c0001t0004 | 1 | HG01069.hp1 | 5_prime_UTR_variant | MODIFIER | c.-29T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 29 | chr2 | 73385840 | |||||
| chr2:73609723
|
A | G | 1 | a0016c0016t0005 | 1 | NA18956.hp1 | 3_prime_UTR_variant | MODIFIER | c.*111A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 23/23 | 111 | chr2 | 73609723 | |||||
| chr2:73609766
|
G | C | 1 | a0017c0017t0003 | 2 | HG02055.hp2 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*154G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 23/23 | 154 | chr2 | 73609766 | |||||
| chr2:73609879
|
T | A | 8 | a0004c0003t0002a0004c0043t0002a0004c0053t0002others(5): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*267T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 23/23 | 267 | chr2 | 73609879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:73386213
|
G | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0002c0004t0001g0005others(90): Show | 93 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(90): Show |
intron_variant | MODIFIER | c.324+21G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386213 | ||||||
| chr2:73386234
|
G | T | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.324+42G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386234 | ||||||
| chr2:73386249
|
C | T | 1 | a0001c0001t0001g0248 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.324+57C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386249 | ||||||
| chr2:73386430
|
C | G | 108 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(105): Show | 108 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.324+238C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386430 | ||||||
| chr2:73386614
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.324+422T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386614 | ||||||
| chr2:73386660
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.324+468C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386660 | ||||||
| chr2:73386661
|
C | G | 107 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(104): Show | 107 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.324+469C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386661 | ||||||
| chr2:73386975
|
A | G | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.324+783A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73386975 | ||||||
| chr2:73387266
|
A | G | 1 | a0003c0002t0001g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.324+1074A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387266 | ||||||
| chr2:73387402
|
G | A | 1 | a0001c0001t0001g0095 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.324+1210G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387402 | ||||||
| chr2:73387542
|
G | C | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.324+1350G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387542 | ||||||
| chr2:73387591
|
C | G | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.324+1399C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387591 | ||||||
| chr2:73387694
|
G | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.324+1502G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387694 | ||||||
| chr2:73387798
|
C | T | 8 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(5): Show | 8 | NA18944.hp2 NA18947.hp1 NA18952.hp2 others(5): Show |
intron_variant | MODIFIER | c.324+1606C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387798 | ||||||
| chr2:73387877
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+1685G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73387877 | ||||||
| chr2:73388003
|
T | TA | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.324+1812dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73388003 | |||||
| chr2:73388059
|
G | A | 1 | a0002c0004t0001g0005 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.324+1867G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388059 | ||||||
| chr2:73388063
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.324+1871G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388063 | ||||||
| chr2:73388073
|
T | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.324+1881T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388073 | ||||||
| chr2:73388321
|
A | G | 30 | a0003c0002t0001g0063a0004c0003t0002g0064a0004c0003t0002g0065others(27): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.324+2129A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388321 | ||||||
| chr2:73388345
|
G | T | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.324+2153G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388345 | ||||||
| chr2:73388493
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.324+2301A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388493 | ||||||
| chr2:73388589
|
A | G | 1 | a0015c0015t0001g0214 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.324+2397A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388589 | ||||||
| chr2:73388819
|
G | A | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.324+2627G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388819 | ||||||
| chr2:73388981
|
A | G | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.324+2789A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73388981 | ||||||
| chr2:73389223
|
C | T | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.324+3031C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73389223 | ||||||
| chr2:73389669
|
T | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.324+3477T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73389669 | ||||||
| chr2:73389729
|
G | T | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.324+3537G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73389729 | ||||||
| chr2:73389873
|
A | G | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.324+3681A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73389873 | ||||||
| chr2:73390189
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.324+3997A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73390189 | ||||||
| chr2:73390602
|
A | G | 1 | a0003c0002t0001g0058 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.324+4410A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73390602 | ||||||
| chr2:73390618
|
G | T | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.324+4426G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73390618 | ||||||
| chr2:73390637
|
G | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.324+4445G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73390637 | ||||||
| chr2:73390794
|
GTCTC | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.324+4605_324+4608d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73390794 | |||||
| chr2:73390844
|
A | G | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.324+4652A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73390844 | ||||||
| chr2:73391065
|
C | T | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.324+4873C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391065 | ||||||
| chr2:73391076
|
A | G | 3 | a0006c0010t0001g0103a0006c0010t0001g0104a0026c0057t0001g0105 | 3 | HG02572.hp2 HG02818.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.324+4884A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391076 | ||||||
| chr2:73391104
|
T | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.324+4912T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391104 | ||||||
| chr2:73391294
|
C | CTTTTTT | 7 | a0008c0008t0001g0232a0008c0008t0001g0233a0008c0008t0001g0234others(4): Show | 7 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.324+5114_324+5119d others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73391294 | |||||
| chr2:73391294
|
C | CTTTTTTT others(2): Show |
85 | a0001c0001t0001g0192a0002c0004t0001g0005a0002c0004t0001g0034others(82): Show | 85 | HG00099.hp2 HG00323.hp1 HG00738.hp1 others(82): Show |
intron_variant | MODIFIER | c.324+5111_324+5119d others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73391294 | |||||
| chr2:73391294
|
C | CTTTTTTT others(3): Show |
18 | a0004c0003t0002g0091a0005c0005t0001g0106a0005c0005t0001g0107others(15): Show | 18 | HG01099.hp2 HG01361.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.324+5110_324+5119d others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73391294 | |||||
| chr2:73391294
|
C | CTTTTTTT others(4): Show |
10 | a0005c0005t0001g0108a0005c0005t0001g0109a0005c0005t0001g0111others(7): Show | 10 | HG00642.hp2 HG01433.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.324+5109_324+5119d others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73391294 | |||||
| chr2:73391294
|
C | CTTTTTTT others(5): Show |
3 | a0005c0005t0001g0117a0005c0005t0001g0118a0006c0007t0001g0102 | 3 | HG02004.hp2 HG02293.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.324+5108_324+5119d others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73391294 | |||||
| chr2:73391358
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+5166A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391358 | ||||||
| chr2:73391528
|
C | T | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.324+5336C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391528 | ||||||
| chr2:73391572
|
C | T | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.324+5380C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391572 | ||||||
| chr2:73391624
|
G | C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.324+5432G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391624 | ||||||
| chr2:73391678
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.324+5486G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391678 | ||||||
| chr2:73391765
|
A | G | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.324+5573A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391765 | ||||||
| chr2:73391869
|
A | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.324+5677A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391869 | ||||||
| chr2:73391878
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+5686A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73391878 | ||||||
| chr2:73392065
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+5873T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73392065 | ||||||
| chr2:73392260
|
ATG | A | 87 | a0001c0001t0001g0182a0001c0001t0001g0186a0002c0004t0001g0031others(84): Show | 87 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(84): Show |
intron_variant | MODIFIER | c.324+6104_324+6105d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73392260 | |||||
| chr2:73392260
|
ATGTG | A | 137 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(134): Show | 137 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.324+6102_324+6105d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73392260 | |||||
| chr2:73392260
|
ATGTGTGT others(11): Show |
A | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.324+6088_324+6105d others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73392260 | |||||
| chr2:73392790
|
A | G | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.324+6598A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73392790 | ||||||
| chr2:73393078
|
G | T | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.324+6886G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393078 | ||||||
| chr2:73393164
|
A | AATTCTTT others(6): Show |
20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.324+6975_324+6987d others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73393164 | |||||
| chr2:73393180
|
G | A | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.324+6988G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393180 | ||||||
| chr2:73393228
|
A | C | 1 | a0002c0047t0001g0047 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.324+7036A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393228 | ||||||
| chr2:73393385
|
C | T | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.324+7193C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393385 | ||||||
| chr2:73393392
|
GT | G | 14 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.324+7211delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73393392 | |||||
| chr2:73393566
|
C | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.324+7374C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393566 | ||||||
| chr2:73393817
|
C | CT | 5 | a0016c0016t0005g0222a0017c0017t0003g0224a0017c0017t0003g0225others(2): Show | 5 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.324+7641dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73393817 | |||||
| chr2:73393930
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+7738C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393930 | ||||||
| chr2:73393941
|
C | T | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.324+7749C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393941 | ||||||
| chr2:73393960
|
A | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.324+7768A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393960 | ||||||
| chr2:73393977
|
T | C | 1 | a0056c0073t0001g0123 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.324+7785T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73393977 | ||||||
| chr2:73394372
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | HG00609.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.324+8180G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394372 | ||||||
| chr2:73394538
|
C | T | 3 | a0001c0001t0001g0178a0001c0001t0001g0179a0055c0072t0001g0177 | 3 | HG02293.hp2 NA18950.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.324+8346C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394538 | ||||||
| chr2:73394583
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.324+8391C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394583 | ||||||
| chr2:73394630
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+8438G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394630 | ||||||
| chr2:73394898
|
T | C | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.324+8706T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394898 | ||||||
| chr2:73394920
|
T | G | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.324+8728T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394920 | ||||||
| chr2:73394957
|
A | C | 3 | a0016c0016t0001g0220a0016c0016t0001g0221a0016c0016t0005g0222 | 3 | NA18947.hp1 NA18956.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.324+8765A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73394957 | ||||||
| chr2:73394979
|
CATATATA others(7): Show |
C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.324+8808_324+8821d others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73394979 | |||||
| chr2:73394992
|
A | ATATATAT others(5): Show |
51 | a0001c0001t0001g0178a0002c0004t0001g0005a0002c0004t0001g0031others(48): Show | 51 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
intron_variant | MODIFIER | c.324+8838_324+8849d others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73394992 | |||||
| chr2:73394992
|
A | ATATATAT others(55): Show |
1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.324+8833_324+8834i others(64): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73394992 | |||||
| chr2:73394992
|
A | ATATATAT others(3): Show |
1 | a0033c0055t0001g0201 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.324+8807_324+8808i others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73394992 | |||||
| chr2:73394992
|
ATATATAT others(5): Show |
A | 2 | a0002c0004t0001g0046a0003c0002t0001g0093 | 2 | HG00621.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.324+8838_324+8849d others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73394992 | |||||
| chr2:73395036
|
ATGTG | A | 18 | a0004c0003t0002g0074a0004c0003t0002g0076a0004c0003t0002g0077others(15): Show | 18 | HG01169.hp1 HG01256.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.324+8850_324+8853d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395036 | |||||
| chr2:73395038
|
G | GTGTATAT others(3): Show |
22 | a0002c0020t0001g0207a0002c0023t0001g0195a0002c0023t0001g0196others(19): Show | 22 | HG00735.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.324+8849_324+8850i others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395038 | |||||
| chr2:73395040
|
GTGTGTA | G | 10 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(7): Show | 10 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.324+8850_324+8855d others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395040 | |||||
| chr2:73395044
|
G | GTA | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.324+8864_324+8865d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395044 | |||||
| chr2:73395046
|
A | G | 22 | a0002c0020t0001g0207a0002c0023t0001g0195a0002c0023t0001g0196others(19): Show | 22 | HG00735.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.324+8854A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395046 | ||||||
| chr2:73395048
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+8856A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395048 | ||||||
| chr2:73395054
|
A | G | 18 | a0004c0003t0002g0074a0004c0003t0002g0076a0004c0003t0002g0077others(15): Show | 18 | HG01169.hp1 HG01256.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.324+8862A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395054 | ||||||
| chr2:73395056
|
A | G | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.324+8864A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395056 | ||||||
| chr2:73395056
|
ATGTGTAT others(19): Show |
A | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.324+8866_324+8891d others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395056 | |||||
| chr2:73395058
|
G | A | 22 | a0002c0020t0001g0207a0002c0023t0001g0195a0002c0023t0001g0196others(19): Show | 22 | HG00735.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.324+8866G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395058 | ||||||
| chr2:73395060
|
G | GTA | 5 | a0001c0001t0001g0126a0007c0006t0001g0131a0015c0015t0001g0181others(2): Show | 5 | HG00280.hp1 HG02056.hp2 NA18950.hp2 others(2): Show |
intron_variant | MODIFIER | c.324+8886_324+8887d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395060 | |||||
| chr2:73395060
|
G | GTATA | 5 | a0001c0001t0001g0212a0007c0006t0001g0122a0007c0006t0001g0127others(2): Show | 5 | HG02056.hp1 HG02559.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.324+8884_324+8887d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395060 | |||||
| chr2:73395062
|
A | G | 35 | a0002c0020t0001g0207a0002c0023t0001g0195a0002c0023t0001g0196others(32): Show | 35 | HG00735.hp1 HG01069.hp2 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.324+8870A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395062 | ||||||
| chr2:73395064
|
A | G | 1 | a0031c0042t0002g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.324+8872A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395064 | ||||||
| chr2:73395073
|
TA | T | 16 | a0002c0004t0001g0033a0002c0004t0001g0051a0002c0004t0001g0052others(13): Show | 16 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(13): Show |
intron_variant | MODIFIER | c.324+8882delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395073 | ||||||
| chr2:73395074
|
A | T | 6 | a0002c0004t0001g0031a0009c0013t0001g0245a0019c0018t0001g0056others(3): Show | 6 | HG00738.hp1 HG02622.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.324+8882A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395074 | ||||||
| chr2:73395075
|
TA | T | 23 | a0002c0011t0001g0041a0002c0041t0001g0094a0002c0052t0001g0040others(20): Show | 23 | HG01169.hp1 HG01256.hp2 HG01257.hp1 others(20): Show |
intron_variant | MODIFIER | c.324+8884delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395075 | ||||||
| chr2:73395076
|
A | AT | 5 | a0002c0004t0001g0005a0002c0004t0001g0036a0002c0004t0001g0037others(2): Show | 5 | HG02257.hp1 HG02486.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.324+8885dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395076 | |||||
| chr2:73395076
|
A | T | 28 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0048others(25): Show | 28 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(25): Show |
intron_variant | MODIFIER | c.324+8884A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395076 | ||||||
| chr2:73395076
|
ATATTT | A | 7 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(4): Show | 7 | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.324+8886_324+8890d others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395076 | |||||
| chr2:73395077
|
TA | T | 5 | a0001c0001t0001g0170a0002c0020t0001g0208a0004c0003t0002g0064others(2): Show | 5 | HG01943.hp2 HG02055.hp2 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.324+8886delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395077 | ||||||
| chr2:73395078
|
A | T | 89 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0171others(86): Show | 89 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.324+8886A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395078 | ||||||
| chr2:73395078
|
AT | A | 16 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0004g0133others(13): Show | 16 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(13): Show |
intron_variant | MODIFIER | c.324+8907delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73395078 | |||||
| chr2:73395080
|
T | A | 38 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0126others(35): Show | 38 | HG01106.hp1 HG01167.hp2 HG02056.hp1 others(35): Show |
intron_variant | MODIFIER | c.324+8888T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395080 | ||||||
| chr2:73395081
|
T | A | 1 | a0003c0002t0001g0059 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.324+8889T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395081 | ||||||
| chr2:73395082
|
T | A | 3 | a0003c0002t0001g0008a0003c0002t0001g0058a0003c0002t0001g0063 | 3 | NA18945.hp2 NA18969.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.324+8890T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395082 | ||||||
| chr2:73395225
|
G | A | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.324+9033G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395225 | ||||||
| chr2:73395364
|
C | T | 1 | a0001c0001t0001g0126 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.324+9172C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395364 | ||||||
| chr2:73395535
|
C | T | 108 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(105): Show | 108 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.324+9343C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395535 | ||||||
| chr2:73395725
|
G | A | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.324+9533G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395725 | ||||||
| chr2:73395933
|
A | G | 3 | a0003c0002t0001g0029a0003c0002t0001g0030a0003c0002t0001g0063 | 3 | NA18944.hp1 NA18956.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.324+9741A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73395933 | ||||||
| chr2:73396077
|
T | A | 108 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(105): Show | 108 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.324+9885T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396077 | ||||||
| chr2:73396303
|
T | TAC | 34 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(31): Show | 34 | HG00609.hp1 HG00609.hp2 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.324+10146_324+1014 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396303 | |||||
| chr2:73396303
|
T | TACAC | 6 | a0001c0001t0001g0132a0001c0001t0001g0138a0001c0001t0001g0182others(3): Show | 6 | HG00642.hp1 HG03540.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.324+10144_324+1014 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396303 | |||||
| chr2:73396303
|
T | TACACAC | 6 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0066t0001g0135others(3): Show | 6 | HG01081.hp1 HG01099.hp1 HG01106.hp1 others(3): Show |
intron_variant | MODIFIER | c.324+10142_324+1014 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396303 | |||||
| chr2:73396303
|
T | TACACACA others(3): Show |
1 | a0003c0002t0001g0028 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.324+10138_324+1014 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396303 | |||||
| chr2:73396303
|
TAC | T | 10 | a0002c0004t0001g0239a0002c0004t0001g0247a0002c0054t0001g0193others(7): Show | 10 | HG01192.hp1 HG01243.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.324+10146_324+1014 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396303 | |||||
| chr2:73396309
|
C | CAT | 10 | a0002c0041t0001g0094a0004c0053t0002g0050a0008c0008t0001g0231others(7): Show | 10 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.324+10118_324+1011 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396309 | |||||
| chr2:73396311
|
C | T | 93 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(90): Show | 93 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(90): Show |
intron_variant | MODIFIER | c.324+10119C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396311 | ||||||
| chr2:73396313
|
C | T | 4 | a0002c0004t0001g0239a0002c0004t0001g0247a0002c0054t0001g0193others(1): Show | 4 | HG01243.hp1 NA18522.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.324+10121C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396313 | ||||||
| chr2:73396315
|
C | T | 1 | a0004c0003t0002g0074 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.324+10123C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396315 | ||||||
| chr2:73396336
|
A | G | 1 | a0040c0036t0001g0027 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.324+10144A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396336 | ||||||
| chr2:73396550
|
C | CT | 95 | a0001c0001t0001g0002a0001c0001t0001g0095a0001c0001t0001g0124others(92): Show | 95 | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.324+10379dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396550 | |||||
| chr2:73396550
|
C | CTT | 101 | a0001c0001t0001g0167a0001c0001t0001g0176a0001c0001t0001g0213others(98): Show | 101 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.324+10378_324+1037 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396550 | |||||
| chr2:73396550
|
C | CTTT | 7 | a0002c0004t0001g0033a0009c0013t0001g0240a0009c0013t0001g0242others(4): Show | 7 | HG02615.hp1 HG02622.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.324+10377_324+1037 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396550 | |||||
| chr2:73396646
|
C | CT | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.324+10469dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396646 | |||||
| chr2:73396646
|
CT | C | 109 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(106): Show | 109 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.324+10469delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73396646 | |||||
| chr2:73396754
|
T | C | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.324+10562T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396754 | ||||||
| chr2:73396764
|
C | A | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.324+10572C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396764 | ||||||
| chr2:73396801
|
C | T | 58 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.324+10609C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73396801 | ||||||
| chr2:73397090
|
A | G | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.324+10898A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397090 | ||||||
| chr2:73397366
|
G | T | 1 | a0011c0022t0001g0200 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.324+11174G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397366 | ||||||
| chr2:73397380
|
T | C | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.324+11188T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397380 | ||||||
| chr2:73397385
|
C | CT | 21 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(18): Show | 21 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.324+11204dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73397385 | |||||
| chr2:73397413
|
T | C | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.325-11209T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397413 | ||||||
| chr2:73397524
|
A | G | 1 | a0001c0001t0001g0132 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.325-11098A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397524 | ||||||
| chr2:73397618
|
C | T | 1 | a0004c0003t0002g0088 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.325-11004C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397618 | ||||||
| chr2:73397650
|
T | C | 1 | a0001c0001t0001g0248 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.325-10972T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397650 | ||||||
| chr2:73397716
|
C | T | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.325-10906C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397716 | ||||||
| chr2:73397860
|
C | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.325-10762C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73397860 | ||||||
| chr2:73398215
|
T | G | 1 | a0007c0006t0001g0152 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.325-10407T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398215 | ||||||
| chr2:73398353
|
G | A | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.325-10269G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398353 | ||||||
| chr2:73398426
|
C | T | 2 | a0003c0002t0001g0008a0003c0002t0001g0058 | 2 | NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.325-10196C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398426 | ||||||
| chr2:73398520
|
A | G | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.325-10102A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398520 | ||||||
| chr2:73398545
|
A | G | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.325-10077A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398545 | ||||||
| chr2:73398614
|
C | T | 1 | a0005c0005t0001g0118 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.325-10008C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398614 | ||||||
| chr2:73398785
|
A | G | 1 | a0001c0001t0001g0248 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.325-9837A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398785 | ||||||
| chr2:73398852
|
C | CT | 13 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(10): Show | 13 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.325-9761dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73398852 | |||||
| chr2:73398979
|
G | T | 2 | a0003c0002t0001g0026a0040c0036t0001g0027 | 2 | NA18998.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.325-9643G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73398979 | ||||||
| chr2:73399076
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-9546C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399076 | ||||||
| chr2:73399265
|
C | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.325-9357C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399265 | ||||||
| chr2:73399289
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-9333T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399289 | ||||||
| chr2:73399296
|
G | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.325-9326G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399296 | ||||||
| chr2:73399322
|
A | G | 1 | a0024c0030t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.325-9300A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399322 | ||||||
| chr2:73399466
|
C | A | 1 | a0001c0001t0001g0179 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.325-9156C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399466 | ||||||
| chr2:73399514
|
C | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-9108C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399514 | ||||||
| chr2:73399745
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-8877C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399745 | ||||||
| chr2:73399795
|
A | G | 1 | a0001c0001t0001g0125 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.325-8827A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399795 | ||||||
| chr2:73399906
|
A | G | 1 | a0040c0036t0001g0027 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.325-8716A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399906 | ||||||
| chr2:73399916
|
C | T | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.325-8706C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399916 | ||||||
| chr2:73399918
|
T | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-8704T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73399918 | ||||||
| chr2:73399936
|
G | GT | 25 | a0001c0001t0001g0165a0001c0001t0001g0167a0006c0007t0001g0098others(22): Show | 25 | HG00735.hp1 HG01070.hp1 HG01099.hp2 others(22): Show |
intron_variant | MODIFIER | c.325-8667dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73399936 | |||||
| chr2:73399936
|
G | GTTT | 12 | a0005c0005t0001g0107a0005c0005t0001g0108a0005c0005t0001g0111others(9): Show | 12 | HG01433.hp2 HG01928.hp2 HG01943.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-8669_325-8667d others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73399936 | |||||
| chr2:73400182
|
G | A | 4 | a0004c0003t0002g0091a0020c0019t0002g0075a0020c0019t0002g0090others(1): Show | 4 | HG02300.hp2 HG02735.hp2 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.325-8440G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73400182 | ||||||
| chr2:73400208
|
A | G | 1 | a0001c0001t0001g0171 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.325-8414A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73400208 | ||||||
| chr2:73400360
|
A | G | 1 | a0006c0010t0001g0097 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.325-8262A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73400360 | ||||||
| chr2:73400482
|
G | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.325-8140G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73400482 | ||||||
| chr2:73401197
|
A | AT | 13 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(10): Show | 13 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.325-7421dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73401197 | |||||
| chr2:73401367
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-7255T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401367 | ||||||
| chr2:73401440
|
G | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-7182G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401440 | ||||||
| chr2:73401515
|
A | G | 19 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(16): Show | 19 | HG02056.hp1 HG02698.hp2 HG03017.hp1 others(16): Show |
intron_variant | MODIFIER | c.325-7107A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401515 | ||||||
| chr2:73401526
|
G | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.325-7096G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401526 | ||||||
| chr2:73401681
|
CTT | C | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-6931_325-6930d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73401681 | |||||
| chr2:73401804
|
C | T | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.325-6818C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401804 | ||||||
| chr2:73401810
|
A | C | 8 | a0001c0001t0001g0130a0001c0001t0001g0151a0001c0001t0001g0167others(5): Show | 8 | HG00738.hp2 HG01081.hp2 HG01167.hp2 others(5): Show |
intron_variant | MODIFIER | c.325-6812A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401810 | ||||||
| chr2:73401863
|
T | C | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-6759T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401863 | ||||||
| chr2:73401896
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.325-6726T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73401896 | ||||||
| chr2:73402021
|
GTGTGTGT others(6): Show |
G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-6589_325-6577d others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73402021 | |||||
| chr2:73402049
|
TGA | T | 68 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(65): Show | 68 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.325-6571_325-6570d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73402049 | |||||
| chr2:73402096
|
A | G | 1 | a0001c0001t0001g0095 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.325-6526A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402096 | ||||||
| chr2:73402117
|
G | A | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.325-6505G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402117 | ||||||
| chr2:73402142
|
G | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-6480G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402142 | ||||||
| chr2:73402215
|
G | T | 2 | a0053c0070t0001g0139a0058c0074t0001g0147 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.325-6407G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402215 | ||||||
| chr2:73402270
|
C | CT | 15 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(12): Show | 15 | HG00280.hp2 HG01243.hp1 HG02886.hp2 others(12): Show |
intron_variant | MODIFIER | c.325-6331dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73402270 | |||||
| chr2:73402270
|
CT | C | 25 | a0001c0001t0001g0126a0001c0001t0001g0141a0001c0001t0004g0133others(22): Show | 25 | HG01069.hp1 HG01099.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.325-6331delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73402270 | |||||
| chr2:73402270
|
CTT | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-6332_325-6331d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73402270 | |||||
| chr2:73402271
|
T | TC | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-6351_325-6350i others(3): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402271 | ||||||
| chr2:73402291
|
T | A | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.325-6331T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402291 | ||||||
| chr2:73402305
|
G | A | 5 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(2): Show | 5 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(2): Show |
intron_variant | MODIFIER | c.325-6317G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402305 | ||||||
| chr2:73402358
|
C | T | 1 | a0026c0057t0001g0105 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.325-6264C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402358 | ||||||
| chr2:73402369
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-6253G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402369 | ||||||
| chr2:73402522
|
C | T | 1 | a0001c0001t0001g0132 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.325-6100C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402522 | ||||||
| chr2:73402551
|
C | T | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.325-6071C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402551 | ||||||
| chr2:73402556
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-6066A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402556 | ||||||
| chr2:73402848
|
T | C | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.325-5774T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402848 | ||||||
| chr2:73402939
|
C | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-5683C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73402939 | ||||||
| chr2:73403046
|
A | G | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.325-5576A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403046 | ||||||
| chr2:73403223
|
A | G | 8 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(5): Show | 8 | HG03017.hp1 NA18941.hp2 NA18945.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-5399A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403223 | ||||||
| chr2:73403292
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-5330A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403292 | ||||||
| chr2:73403587
|
A | G | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.325-5035A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403587 | ||||||
| chr2:73403706
|
A | G | 4 | a0004c0003t0002g0083a0004c0003t0002g0084a0004c0003t0002g0085others(1): Show | 4 | HG01257.hp1 HG01346.hp2 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.325-4916A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403706 | ||||||
| chr2:73403942
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.325-4680C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73403942 | ||||||
| chr2:73404084
|
G | A | 70 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(67): Show | 70 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.325-4538G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404084 | ||||||
| chr2:73404104
|
G | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-4518G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404104 | ||||||
| chr2:73404196
|
G | T | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.325-4426G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404196 | ||||||
| chr2:73404208
|
T | C | 1 | a0001c0001t0001g0138 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.325-4414T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404208 | ||||||
| chr2:73404436
|
G | A | 109 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(106): Show | 109 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.325-4186G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404436 | ||||||
| chr2:73404546
|
G | A | 2 | a0053c0070t0001g0139a0058c0074t0001g0147 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.325-4076G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404546 | ||||||
| chr2:73404562
|
T | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.325-4060T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404562 | ||||||
| chr2:73404651
|
T | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.325-3971T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404651 | ||||||
| chr2:73404654
|
C | T | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.325-3968C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73404654 | ||||||
| chr2:73404899
|
C | CT | 28 | a0001c0001t0001g0001a0001c0001t0001g0095a0001c0001t0001g0150others(25): Show | 28 | HG00621.hp2 HG01070.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.325-3693dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTT | 6 | a0004c0003t0002g0064a0004c0003t0002g0074a0004c0003t0002g0076others(3): Show | 6 | HG01943.hp2 HG02602.hp1 HG02698.hp1 others(3): Show |
intron_variant | MODIFIER | c.325-3696_325-3693d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTT | 12 | a0004c0003t0002g0066a0004c0003t0002g0067a0004c0003t0002g0083others(9): Show | 12 | HG01069.hp2 HG01070.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.325-3697_325-3693d others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTT | 16 | a0002c0004t0001g0033a0003c0002t0001g0063a0004c0003t0002g0065others(13): Show | 16 | HG00642.hp2 HG01109.hp2 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.325-3698_325-3693d others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT | 12 | a0004c0003t0002g0071a0005c0005t0001g0107a0005c0005t0001g0108others(9): Show | 12 | HG00738.hp1 HG01261.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.325-3699_325-3693d others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(1): Show |
27 | a0002c0004t0001g0031a0002c0004t0001g0036a0002c0004t0001g0037others(24): Show | 27 | HG00280.hp2 HG00323.hp1 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.325-3700_325-3693d others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(2): Show |
12 | a0002c0004t0001g0034a0002c0004t0001g0035a0002c0004t0001g0046others(9): Show | 12 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-3701_325-3693d others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(3): Show |
9 | a0002c0004t0001g0005a0002c0004t0001g0052a0002c0023t0001g0195others(6): Show | 9 | HG01109.hp1 HG02486.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.325-3702_325-3693d others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(4): Show |
4 | a0008c0008t0001g0233a0008c0008t0001g0234a0011c0022t0001g0199others(1): Show | 4 | HG02647.hp1 HG02895.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.325-3703_325-3693d others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(5): Show |
1 | a0008c0008t0001g0231 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.325-3704_325-3693d others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(6): Show |
3 | a0008c0008t0001g0235a0008c0008t0001g0237a0027c0032t0001g0236 | 3 | HG00735.hp1 HG02965.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.325-3705_325-3693d others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(9): Show |
1 | a0028c0033t0001g0238 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.325-3708_325-3693d others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
C | CTTTTTTT others(16): Show |
1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.325-3715_325-3693d others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
CT | C | 5 | a0001c0001t0001g0130a0007c0006t0001g0142a0007c0006t0001g0163others(2): Show | 5 | HG01167.hp2 HG01993.hp2 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.325-3693delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73404899
|
CTTTTTTT others(1): Show |
C | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.325-3700_325-3693d others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73404899 | |||||
| chr2:73405333
|
A | G | 1 | a0002c0054t0001g0193 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.325-3289A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73405333 | ||||||
| chr2:73405673
|
AT | A | 18 | a0001c0001t0001g0126a0005c0005t0001g0106a0005c0005t0001g0107others(15): Show | 18 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(15): Show |
intron_variant | MODIFIER | c.325-2938delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73405673 | |||||
| chr2:73405865
|
C | G | 1 | a0018c0025t0001g0054 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.325-2757C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73405865 | ||||||
| chr2:73405979
|
G | C | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.325-2643G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73405979 | ||||||
| chr2:73405980
|
A | T | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.325-2642A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73405980 | ||||||
| chr2:73406064
|
T | C | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.325-2558T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406064 | ||||||
| chr2:73406302
|
G | A | 108 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(105): Show | 108 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.325-2320G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406302 | ||||||
| chr2:73406420
|
T | A | 1 | a0003c0002t0001g0021 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.325-2202T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406420 | ||||||
| chr2:73406436
|
G | GT | 13 | a0001c0001t0001g0167a0001c0001t0001g0170a0001c0001t0001g0219others(10): Show | 13 | HG00735.hp1 HG01981.hp1 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.325-2169dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73406436 | |||||
| chr2:73406436
|
G | GTT | 11 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(8): Show | 11 | HG01099.hp2 HG01884.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.325-2170_325-2169d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73406436 | |||||
| chr2:73406793
|
T | C | 187 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(184): Show | 187 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
intron_variant | MODIFIER | c.325-1829T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406793 | ||||||
| chr2:73406823
|
G | A | 4 | a0010c0009t0001g0184a0010c0009t0001g0185a0047c0061t0001g0183others(1): Show | 4 | HG02257.hp2 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.325-1799G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406823 | ||||||
| chr2:73406856
|
A | G | 188 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(185): Show | 188 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
intron_variant | MODIFIER | c.325-1766A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406856 | ||||||
| chr2:73406873
|
T | C | 207 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(204): Show | 207 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.325-1749T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406873 | ||||||
| chr2:73406907
|
G | A | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.325-1715G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406907 | ||||||
| chr2:73406915
|
G | A | 1 | a0047c0061t0001g0183 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.325-1707G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73406915 | ||||||
| chr2:73407259
|
C | G | 3 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0146 | 3 | HG00735.hp2 HG01952.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.325-1363C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407259 | ||||||
| chr2:73407445
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.325-1177A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407445 | ||||||
| chr2:73407494
|
T | TA | 70 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(67): Show | 70 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.325-1127dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 73407494 | |||||
| chr2:73407673
|
GT | G | 3 | a0006c0007t0001g0098a0006c0007t0001g0101a0006c0007t0001g0102 | 3 | HG02145.hp1 HG02630.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.325-948delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407673 | ||||||
| chr2:73407740
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-882T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407740 | ||||||
| chr2:73407836
|
G | A | 1 | a0024c0030t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.325-786G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407836 | ||||||
| chr2:73407869
|
G | A | 9 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(6): Show | 9 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.325-753G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73407869 | ||||||
| chr2:73408020
|
G | A | 96 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(93): Show | 96 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show |
intron_variant | MODIFIER | c.325-602G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73408020 | ||||||
| chr2:73408176
|
C | G | 187 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(184): Show | 187 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
intron_variant | MODIFIER | c.325-446C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73408176 | ||||||
| chr2:73408364
|
T | G | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.325-258T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | chr2 | 73408364 | ||||||
| chr2:73408864
|
C | CT | 77 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(74): Show | 77 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.450+143dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408864
|
C | CTT | 10 | a0001c0001t0001g0095a0001c0001t0001g0138a0001c0001t0001g0143others(7): Show | 10 | HG00609.hp1 HG01433.hp1 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.450+142_450+143dup others(2): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408864
|
CT | C | 19 | a0002c0004t0001g0051a0002c0004t0001g0052a0002c0020t0001g0207others(16): Show | 19 | HG01099.hp2 HG01109.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.450+143delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408864
|
CTT | C | 12 | a0006c0010t0001g0096a0006c0010t0001g0097a0006c0010t0001g0103others(9): Show | 12 | HG00735.hp1 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.450+142_450+143del others(2): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408864
|
CTTTTTTT others(2): Show |
C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.450+135_450+143del others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408864
|
CTTTTTTT others(5): Show |
C | 1 | a0010c0009t0001g0184 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.450+132_450+143del others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73408864 | |||||
| chr2:73408872
|
T | C | 2 | a0008c0008t0001g0235a0008c0008t0001g0237 | 2 | HG00735.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.450+125T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73408872 | ||||||
| chr2:73408873
|
T | C | 1 | a0027c0032t0001g0236 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.450+126T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73408873 | ||||||
| chr2:73409073
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.450+326C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409073 | ||||||
| chr2:73409125
|
C | T | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.450+378C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409125 | ||||||
| chr2:73409283
|
T | G | 1 | a0010c0009t0001g0187 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.450+536T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409283 | ||||||
| chr2:73409330
|
C | T | 1 | a0003c0002t0001g0026 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.450+583C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409330 | ||||||
| chr2:73409485
|
A | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.450+738A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409485 | ||||||
| chr2:73409656
|
A | T | 2 | a0006c0007t0001g0099a0006c0007t0001g0100 | 2 | HG01099.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.450+909A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409656 | ||||||
| chr2:73409800
|
A | T | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.450+1053A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409800 | ||||||
| chr2:73409820
|
A | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.450+1073A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73409820 | ||||||
| chr2:73410138
|
C | T | 3 | a0002c0004t0001g0033a0002c0004t0001g0051a0002c0004t0001g0052 | 3 | HG01109.hp1 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.450+1391C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410138 | ||||||
| chr2:73410222
|
C | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.450+1475C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410222 | ||||||
| chr2:73410351
|
T | C | 1 | a0015c0015t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.450+1604T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410351 | ||||||
| chr2:73410391
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.450+1644A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410391 | ||||||
| chr2:73410449
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.450+1702C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410449 | ||||||
| chr2:73410533
|
G | A | 1 | a0001c0001t0001g0144 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.450+1786G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410533 | ||||||
| chr2:73410803
|
GTTAT | G | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.450+2058_450+2061d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73410803 | |||||
| chr2:73410816
|
CTAA | C | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.450+2074_450+2076d others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73410816 | |||||
| chr2:73410871
|
T | C | 1 | a0003c0002t0001g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.450+2124T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410871 | ||||||
| chr2:73410970
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.450+2223A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73410970 | ||||||
| chr2:73411009
|
A | G | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.450+2262A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411009 | ||||||
| chr2:73411156
|
A | G | 1 | a0009c0026t0001g0243 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.450+2409A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411156 | ||||||
| chr2:73411388
|
C | T | 8 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(5): Show | 8 | HG03017.hp1 NA18941.hp2 NA18945.hp1 others(5): Show |
intron_variant | MODIFIER | c.450+2641C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411388 | ||||||
| chr2:73411464
|
C | T | 1 | a0047c0061t0001g0183 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.450+2717C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411464 | ||||||
| chr2:73411612
|
C | T | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.450+2865C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411612 | ||||||
| chr2:73411695
|
G | C | 52 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(49): Show | 52 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.450+2948G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411695 | ||||||
| chr2:73411823
|
T | A | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.450+3076T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411823 | ||||||
| chr2:73411900
|
T | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.450+3153T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411900 | ||||||
| chr2:73411930
|
A | G | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.450+3183A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73411930 | ||||||
| chr2:73412165
|
C | T | 1 | a0012c0012t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.450+3418C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412165 | ||||||
| chr2:73412239
|
C | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.450+3492C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412239 | ||||||
| chr2:73412249
|
A | G | 2 | a0003c0002t0001g0008a0003c0002t0001g0058 | 2 | NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.450+3502A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412249 | ||||||
| chr2:73412348
|
T | C | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.450+3601T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412348 | ||||||
| chr2:73412383
|
A | G | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.450+3636A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412383 | ||||||
| chr2:73412499
|
C | G | 2 | a0003c0002t0001g0008a0003c0002t0001g0058 | 2 | NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.450+3752C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412499 | ||||||
| chr2:73412528
|
G | A | 1 | a0004c0003t0002g0080 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.450+3781G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412528 | ||||||
| chr2:73412654
|
G | C | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.450+3907G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412654 | ||||||
| chr2:73412969
|
T | G | 1 | a0001c0001t0001g0176 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.450+4222T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73412969 | ||||||
| chr2:73413172
|
G | A | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.450+4425G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413172 | ||||||
| chr2:73413236
|
G | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.450+4489G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413236 | ||||||
| chr2:73413244
|
TGCAGAGA others(9): Show |
T | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.450+4501_450+4516d others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73413244 | |||||
| chr2:73413253
|
A | C | 1 | a0011c0048t0001g0197 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.450+4506A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413253 | ||||||
| chr2:73413271
|
G | A | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.450+4524G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413271 | ||||||
| chr2:73413316
|
CTTGT | C | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.450+4572_450+4575d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73413316 | |||||
| chr2:73413363
|
C | T | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.450+4616C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413363 | ||||||
| chr2:73413764
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.450+5017A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413764 | ||||||
| chr2:73413949
|
A | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.451-5174A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413949 | ||||||
| chr2:73413960
|
T | G | 244 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(241): Show | 244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.451-5163T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413960 | ||||||
| chr2:73413968
|
A | T | 2 | a0003c0002t0001g0026a0040c0036t0001g0027 | 2 | NA18998.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.451-5155A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73413968 | ||||||
| chr2:73414018
|
A | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.451-5105A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414018 | ||||||
| chr2:73414112
|
A | G | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.451-5011A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414112 | ||||||
| chr2:73414157
|
C | T | 70 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(67): Show | 70 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.451-4966C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414157 | ||||||
| chr2:73414163
|
A | G | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.451-4960A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414163 | ||||||
| chr2:73414198
|
C | T | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.451-4925C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414198 | ||||||
| chr2:73414236
|
C | T | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.451-4887C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414236 | ||||||
| chr2:73414242
|
G | T | 1 | a0007c0006t0001g0158 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.451-4881G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414242 | ||||||
| chr2:73414373
|
CT | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.451-4744delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414373 | |||||
| chr2:73414386
|
AT | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.451-4736delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414386 | ||||||
| chr2:73414387
|
T | A | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.451-4736T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414387 | ||||||
| chr2:73414407
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-4716A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414407 | ||||||
| chr2:73414429
|
C | T | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.451-4694C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414429 | ||||||
| chr2:73414473
|
GT | G | 61 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(58): Show | 61 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.451-4635delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414473 | |||||
| chr2:73414473
|
GTT | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.451-4636_451-4635d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414473 | |||||
| chr2:73414474
|
T | TTTTTTTT others(6): Show |
4 | a0001c0001t0001g0141a0006c0007t0001g0228a0006c0007t0001g0229others(1): Show | 4 | HG01256.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.451-4638_451-4637i others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414474 | |||||
| chr2:73414474
|
T | TTTTTTTT others(7): Show |
1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.451-4637_451-4636i others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414474 | |||||
| chr2:73414475
|
T | TTTTTTTT others(5): Show |
86 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(83): Show | 86 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.451-4638_451-4637i others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414475 | |||||
| chr2:73414475
|
T | TTTTTTTT others(6): Show |
1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.451-4637_451-4636i others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414475 | |||||
| chr2:73414479
|
T | TTTTTTTT others(7): Show |
8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-4636_451-4635i others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414479 | |||||
| chr2:73414483
|
T | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.451-4640T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414483 | ||||||
| chr2:73414484
|
T | G | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.451-4639T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414484 | ||||||
| chr2:73414485
|
T | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.451-4638T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414485 | ||||||
| chr2:73414487
|
T | G | 14 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.451-4636T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414487 | ||||||
| chr2:73414488
|
T | G | 3 | a0006c0007t0001g0228a0006c0007t0001g0229a0017c0017t0003g0224 | 3 | HG02895.hp2 HG02897.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.451-4635T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414488 | ||||||
| chr2:73414488
|
TG | T | 14 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.451-4634delG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414488 | ||||||
| chr2:73414489
|
G | GT | 98 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(95): Show | 98 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.451-4624dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73414489 | |||||
| chr2:73414489
|
G | T | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.451-4634G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414489 | ||||||
| chr2:73414524
|
G | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.451-4599G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414524 | ||||||
| chr2:73414528
|
A | G | 1 | a0003c0002t0001g0020 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.451-4595A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414528 | ||||||
| chr2:73414716
|
G | C | 4 | a0004c0003t0002g0074a0004c0003t0002g0076a0004c0003t0002g0077others(1): Show | 4 | HG02602.hp1 HG02698.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.451-4407G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414716 | ||||||
| chr2:73414725
|
T | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.451-4398T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414725 | ||||||
| chr2:73414729
|
C | T | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.451-4394C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414729 | ||||||
| chr2:73414944
|
T | A | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.451-4179T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73414944 | ||||||
| chr2:73415007
|
G | C | 9 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(6): Show | 9 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.451-4116G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415007 | ||||||
| chr2:73415025
|
C | T | 2 | a0001c0001t0001g0213a0051c0068t0001g0128 | 2 | HG03654.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.451-4098C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415025 | ||||||
| chr2:73415145
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-3978T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415145 | ||||||
| chr2:73415159
|
T | C | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.451-3964T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415159 | ||||||
| chr2:73415183
|
T | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.451-3940T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415183 | ||||||
| chr2:73415275
|
A | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.451-3848A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415275 | ||||||
| chr2:73415424
|
TTGAA | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-3695_451-3692d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73415424 | |||||
| chr2:73415552
|
C | G | 3 | a0002c0004t0001g0033a0002c0004t0001g0051a0002c0004t0001g0052 | 3 | HG01109.hp1 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.451-3571C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415552 | ||||||
| chr2:73415673
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.451-3450C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415673 | ||||||
| chr2:73415989
|
A | C | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.451-3134A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73415989 | ||||||
| chr2:73416020
|
C | T | 1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.451-3103C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416020 | ||||||
| chr2:73416054
|
A | G | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.451-3069A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416054 | ||||||
| chr2:73416499
|
T | G | 11 | a0003c0002t0001g0008a0003c0002t0001g0013a0003c0002t0001g0014others(8): Show | 11 | HG02071.hp2 HG03927.hp1 NA18945.hp2 others(8): Show |
intron_variant | MODIFIER | c.451-2624T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416499 | ||||||
| chr2:73416588
|
A | G | 1 | a0016c0016t0001g0220 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.451-2535A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416588 | ||||||
| chr2:73416625
|
C | T | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.451-2498C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416625 | ||||||
| chr2:73416764
|
A | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.451-2359A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416764 | ||||||
| chr2:73416798
|
G | GAATT | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.451-2323_451-2320d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73416798 | |||||
| chr2:73416982
|
A | G | 1 | a0001c0001t0001g0124 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.451-2141A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73416982 | ||||||
| chr2:73417100
|
C | CA | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-2016dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 73417100 | |||||
| chr2:73417160
|
A | G | 2 | a0003c0002t0001g0014a0003c0002t0001g0015 | 2 | NA18947.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.451-1963A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417160 | ||||||
| chr2:73417208
|
C | G | 1 | a0007c0006t0001g0166 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.451-1915C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417208 | ||||||
| chr2:73417224
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.451-1899C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417224 | ||||||
| chr2:73417254
|
A | G | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.451-1869A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417254 | ||||||
| chr2:73417353
|
A | G | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.451-1770A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417353 | ||||||
| chr2:73417917
|
A | G | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.451-1206A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417917 | ||||||
| chr2:73417961
|
G | A | 101 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(98): Show | 101 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.451-1162G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417961 | ||||||
| chr2:73417989
|
T | C | 2 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | NA18948.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.451-1134T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73417989 | ||||||
| chr2:73418735
|
A | G | 6 | a0001c0001t0001g0136a0001c0001t0001g0138a0001c0001t0001g0157others(3): Show | 6 | HG00099.hp1 HG01070.hp1 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.451-388A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73418735 | ||||||
| chr2:73418870
|
A | G | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.451-253A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | chr2 | 73418870 | ||||||
| chr2:73419351
|
C | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.646+33C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419351 | ||||||
| chr2:73419557
|
A | G | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.646+239A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419557 | ||||||
| chr2:73419559
|
G | A | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.646+241G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419559 | ||||||
| chr2:73419693
|
T | G | 1 | a0051c0068t0001g0128 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.646+375T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419693 | ||||||
| chr2:73419704
|
A | G | 1 | a0001c0001t0001g0126 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.646+386A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419704 | ||||||
| chr2:73419937
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.646+619A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419937 | ||||||
| chr2:73419964
|
C | A | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.646+646C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73419964 | ||||||
| chr2:73420148
|
A | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.646+830A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73420148 | ||||||
| chr2:73420162
|
G | A | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.646+844G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73420162 | ||||||
| chr2:73420380
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.646+1062G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73420380 | ||||||
| chr2:73420915
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.646+1597C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73420915 | ||||||
| chr2:73421056
|
A | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.646+1738A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421056 | ||||||
| chr2:73421202
|
C | A | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.647-1655C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421202 | ||||||
| chr2:73421312
|
C | G | 2 | a0020c0019t0002g0075a0020c0019t0002g0090 | 2 | HG02300.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.647-1545C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421312 | ||||||
| chr2:73421553
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.647-1304T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421553 | ||||||
| chr2:73421683
|
G | T | 87 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(84): Show | 87 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.647-1174G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421683 | ||||||
| chr2:73421859
|
C | T | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.647-998C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421859 | ||||||
| chr2:73421976
|
G | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.647-881G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73421976 | ||||||
| chr2:73422118
|
T | A | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.647-739T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422118 | ||||||
| chr2:73422120
|
G | A | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.647-737G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422120 | ||||||
| chr2:73422178
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.647-679G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422178 | ||||||
| chr2:73422224
|
A | G | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.647-633A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422224 | ||||||
| chr2:73422423
|
T | G | 1 | a0001c0001t0001g0178 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.647-434T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422423 | ||||||
| chr2:73422439
|
G | T | 30 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(27): Show | 30 | HG02056.hp1 HG02071.hp2 HG02698.hp2 others(27): Show |
intron_variant | MODIFIER | c.647-418G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422439 | ||||||
| chr2:73422605
|
T | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.647-252T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422605 | ||||||
| chr2:73422681
|
A | G | 1 | a0020c0019t0002g0075 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.647-176A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422681 | ||||||
| chr2:73422777
|
A | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.647-80A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422777 | ||||||
| chr2:73422800
|
G | A | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.647-57G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3/22 | chr2 | 73422800 | ||||||
| chr2:73422994
|
T | A | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.764+20T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73422994 | ||||||
| chr2:73423101
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.764+127G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73423101 | ||||||
| chr2:73423325
|
G | A | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.764+351G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73423325 | ||||||
| chr2:73423567
|
T | C | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.764+593T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73423567 | ||||||
| chr2:73423577
|
G | GAAAACCC others(10): Show |
96 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(93): Show | 96 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show |
intron_variant | MODIFIER | c.764+608_764+624dup others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 73423577 | |||||
| chr2:73423623
|
AGTAACCT others(2): Show |
A | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.764+652_764+660del others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 73423623 | |||||
| chr2:73423678
|
A | G | 3 | a0016c0016t0001g0220a0016c0016t0005g0222a0042c0034t0001g0025 | 3 | NA18945.hp1 NA18947.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.764+704A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73423678 | ||||||
| chr2:73423896
|
G | A | 2 | a0002c0004t0001g0247a0032c0046t0001g0230 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.765-534G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73423896 | ||||||
| chr2:73424068
|
G | A | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.765-362G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73424068 | ||||||
| chr2:73424261
|
A | G | 208 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(205): Show | 208 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
intron_variant | MODIFIER | c.765-169A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73424261 | ||||||
| chr2:73424316
|
A | G | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.765-114A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73424316 | ||||||
| chr2:73424420
|
A | G | 1 | a0005c0005t0001g0107 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.765-10A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | chr2 | 73424420 | ||||||
| chr2:73425190
|
G | A | 4 | a0006c0010t0001g0096a0006c0010t0001g0103a0006c0010t0001g0104others(1): Show | 4 | HG01884.hp2 HG02572.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1237+288G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425190 | ||||||
| chr2:73425242
|
T | C | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1237+340T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425242 | ||||||
| chr2:73425405
|
T | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1237+503T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425405 | ||||||
| chr2:73425469
|
G | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.1237+567G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425469 | ||||||
| chr2:73425500
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.1237+598A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425500 | ||||||
| chr2:73425566
|
C | T | 4 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(1): Show | 4 | HG01167.hp1 HG01169.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1237+664C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73425566 | ||||||
| chr2:73426010
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.1238-443A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426010 | ||||||
| chr2:73426045
|
A | G | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1238-408A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426045 | ||||||
| chr2:73426079
|
G | A | 1 | a0015c0015t0001g0214 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1238-374G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426079 | ||||||
| chr2:73426184
|
A | G | 1 | a0006c0010t0001g0097 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1238-269A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426184 | ||||||
| chr2:73426204
|
T | C | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1238-249T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426204 | ||||||
| chr2:73426335
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1238-118G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426335 | ||||||
| chr2:73426385
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1238-68T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 5/22 | chr2 | 73426385 | ||||||
| chr2:73426572
|
A | G | 1 | a0001c0001t0001g0248 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1338+19A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73426572 | ||||||
| chr2:73426707
|
A | G | 1 | a0015c0015t0001g0181 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1338+154A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73426707 | ||||||
| chr2:73426958
|
G | A | 2 | a0001c0001t0001g0217a0016c0016t0001g0221 | 2 | NA18944.hp2 NA19089.hp2 |
intron_variant | MODIFIER | c.1338+405G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73426958 | ||||||
| chr2:73427037
|
GA | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1338+488delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73427037 | |||||
| chr2:73427165
|
C | T | 1 | a0012c0012t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1338+612C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427165 | ||||||
| chr2:73427233
|
C | A | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1338+680C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427233 | ||||||
| chr2:73427235
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1338+682G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427235 | ||||||
| chr2:73427787
|
G | C | 1 | a0001c0001t0001g0248 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1338+1234G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427787 | ||||||
| chr2:73427792
|
G | A | 1 | a0002c0020t0001g0208 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1338+1239G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427792 | ||||||
| chr2:73427901
|
T | C | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1338+1348T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73427901 | ||||||
| chr2:73428240
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1338+1687T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428240 | ||||||
| chr2:73428368
|
T | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.1338+1815T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428368 | ||||||
| chr2:73428482
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.1338+1929A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428482 | ||||||
| chr2:73428725
|
G | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338+2172G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428725 | ||||||
| chr2:73428835
|
G | A | 1 | a0003c0002t0001g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1338+2282G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428835 | ||||||
| chr2:73428846
|
CCTT | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1338+2294_1338+229 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73428846 | ||||||
| chr2:73428904
|
G | GGTTCACT others(1): Show |
3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1338+2352_1338+235 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73428904 | |||||
| chr2:73429111
|
C | T | 1 | a0029c0056t0002g0087 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1338+2558C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73429111 | ||||||
| chr2:73429266
|
A | C | 1 | a0004c0003t0002g0064 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1338+2713A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73429266 | ||||||
| chr2:73429278
|
C | CT | 9 | a0001c0001t0001g0137a0001c0001t0001g0159a0001c0001t0001g0167others(6): Show | 9 | HG01081.hp2 HG01192.hp1 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338+2745dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73429278 | |||||
| chr2:73429278
|
CT | C | 100 | a0001c0001t0001g0156a0002c0004t0001g0005a0002c0004t0001g0031others(97): Show | 100 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(97): Show |
intron_variant | MODIFIER | c.1338+2745delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73429278 | |||||
| chr2:73429278
|
CTT | C | 5 | a0002c0004t0001g0036a0004c0003t0002g0067a0011c0022t0001g0200others(2): Show | 5 | HG01069.hp2 HG02055.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1338+2744_1338+274 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73429278 | |||||
| chr2:73429278
|
CTTT | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.1338+2743_1338+274 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73429278 | |||||
| chr2:73429318
|
G | A | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1338+2765G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73429318 | ||||||
| chr2:73429319
|
T | A | 1 | a0013c0014t0001g0180 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1338+2766T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73429319 | ||||||
| chr2:73429805
|
A | G | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1339-2393A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73429805 | ||||||
| chr2:73430077
|
C | CT | 6 | a0005c0005t0001g0109a0017c0017t0003g0224a0017c0017t0003g0225others(3): Show | 6 | HG00642.hp2 HG02055.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1339-2104dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 73430077 | |||||
| chr2:73430176
|
A | T | 1 | a0037c0044t0002g0079 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1339-2022A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430176 | ||||||
| chr2:73430318
|
C | T | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.1339-1880C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430318 | ||||||
| chr2:73430355
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1339-1843C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430355 | ||||||
| chr2:73430576
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.1339-1622G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430576 | ||||||
| chr2:73430651
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1339-1547G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430651 | ||||||
| chr2:73430757
|
T | C | 1 | a0055c0072t0001g0177 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1339-1441T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73430757 | ||||||
| chr2:73431203
|
C | T | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.1339-995C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431203 | ||||||
| chr2:73431349
|
A | C | 1 | a0001c0001t0001g0126 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1339-849A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431349 | ||||||
| chr2:73431445
|
T | C | 244 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(241): Show | 244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.1339-753T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431445 | ||||||
| chr2:73431558
|
A | G | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1339-640A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431558 | ||||||
| chr2:73431867
|
G | A | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1339-331G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431867 | ||||||
| chr2:73431920
|
T | G | 1 | a0047c0061t0001g0183 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1339-278T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | 73431920 | ||||||
| chr2:73432328
|
C | T | 2 | a0001c0001t0001g0171a0007c0006t0001g0173 | 2 | HG00323.hp2 HG01257.hp2 |
intron_variant | MODIFIER | c.1432+37C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432328 | ||||||
| chr2:73432462
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+171T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432462 | ||||||
| chr2:73432463
|
C | CAGTGAAT others(221): Show |
8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+172_1432+173i others(230): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432463 | ||||||
| chr2:73432464
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+173T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432464 | ||||||
| chr2:73432465
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+174T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432465 | ||||||
| chr2:73432509
|
G | A | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1432+218G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432509 | ||||||
| chr2:73432538
|
G | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+247G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432538 | ||||||
| chr2:73432606
|
A | G | 246 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(243): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.1432+315A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432606 | ||||||
| chr2:73432609
|
G | A | 1 | a0002c0004t0001g0052 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1432+318G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432609 | ||||||
| chr2:73432639
|
G | GT | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+354dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73432639 | |||||
| chr2:73432750
|
A | G | 1 | a0007c0006t0001g0211 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.1432+459A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432750 | ||||||
| chr2:73432827
|
T | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1432+536T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432827 | ||||||
| chr2:73432975
|
A | G | 1 | a0005c0005t0001g0118 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1432+684A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73432975 | ||||||
| chr2:73433043
|
G | T | 7 | a0002c0023t0001g0195a0002c0023t0001g0196a0011c0022t0001g0199others(4): Show | 7 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.1432+752G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433043 | ||||||
| chr2:73433159
|
C | T | 3 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0146 | 3 | HG00735.hp2 HG01952.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.1432+868C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433159 | ||||||
| chr2:73433589
|
A | G | 1 | a0013c0014t0001g0180 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1432+1298A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433589 | ||||||
| chr2:73433602
|
A | T | 1 | a0004c0003t0002g0071 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1432+1311A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433602 | ||||||
| chr2:73433696
|
A | G | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1432+1405A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433696 | ||||||
| chr2:73433759
|
A | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1432+1468A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433759 | ||||||
| chr2:73433798
|
A | T | 2 | a0013c0014t0001g0172a0048c0059t0001g0155 | 2 | HG01261.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1432+1507A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433798 | ||||||
| chr2:73433915
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+1624T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433915 | ||||||
| chr2:73433979
|
T | C | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+1688T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73433979 | ||||||
| chr2:73434063
|
T | C | 1 | a0004c0043t0002g0082 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1432+1772T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434063 | ||||||
| chr2:73434229
|
C | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.1432+1938C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434229 | ||||||
| chr2:73434502
|
C | T | 1 | a0010c0009t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1432+2211C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434502 | ||||||
| chr2:73434610
|
C | T | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.1432+2319C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434610 | ||||||
| chr2:73434721
|
C | T | 209 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
intron_variant | MODIFIER | c.1432+2430C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434721 | ||||||
| chr2:73434758
|
T | A | 5 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1432+2467T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434758 | ||||||
| chr2:73434831
|
T | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1432+2540T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434831 | ||||||
| chr2:73434858
|
C | G | 69 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(66): Show | 69 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.1432+2567C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434858 | ||||||
| chr2:73434900
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1432+2609G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434900 | ||||||
| chr2:73434959
|
A | G | 209 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
intron_variant | MODIFIER | c.1432+2668A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434959 | ||||||
| chr2:73434992
|
A | G | 1 | a0001c0001t0001g0138 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1432+2701A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73434992 | ||||||
| chr2:73435196
|
T | C | 1 | a0007c0006t0001g0127 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1432+2905T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435196 | ||||||
| chr2:73435284
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1432+2993C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435284 | ||||||
| chr2:73435299
|
G | C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1432+3008G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435299 | ||||||
| chr2:73435307
|
T | C | 7 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(4): Show | 7 | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.1432+3016T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435307 | ||||||
| chr2:73435522
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+3231C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435522 | ||||||
| chr2:73435540
|
C | CT | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(94): Show | 97 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.1432+3258dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73435540 | |||||
| chr2:73435548
|
T | C | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1432+3257T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435548 | ||||||
| chr2:73435644
|
A | G | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1432+3353A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435644 | ||||||
| chr2:73435888
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+3597G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73435888 | ||||||
| chr2:73436077
|
A | G | 240 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(237): Show | 240 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.1432+3786A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436077 | ||||||
| chr2:73436164
|
G | A | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1432+3873G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436164 | ||||||
| chr2:73436307
|
T | C | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.1432+4016T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436307 | ||||||
| chr2:73436353
|
A | C | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.1432+4062A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436353 | ||||||
| chr2:73436415
|
T | C | 1 | a0004c0003t0002g0083 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1432+4124T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436415 | ||||||
| chr2:73436921
|
G | A | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1432+4630G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436921 | ||||||
| chr2:73436943
|
T | C | 1 | a0004c0043t0002g0082 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1432+4652T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73436943 | ||||||
| chr2:73437059
|
A | C | 1 | a0001c0001t0001g0124 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1432+4768A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437059 | ||||||
| chr2:73437215
|
C | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1432+4924C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437215 | ||||||
| chr2:73437318
|
G | A | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1432+5027G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437318 | ||||||
| chr2:73437379
|
C | G | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.1432+5088C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437379 | ||||||
| chr2:73437587
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1432+5296G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437587 | ||||||
| chr2:73437757
|
C | T | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+5466C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437757 | ||||||
| chr2:73437850
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1432+5559C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437850 | ||||||
| chr2:73437851
|
G | A | 2 | a0001c0001t0001g0153a0001c0001t0001g0160 | 2 | HG03017.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.1432+5560G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437851 | ||||||
| chr2:73437918
|
T | C | 1 | a0010c0009t0001g0188 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1432+5627T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73437918 | ||||||
| chr2:73438011
|
C | T | 3 | a0002c0004t0001g0005a0002c0004t0001g0035a0034c0049t0001g0039 | 3 | HG02257.hp1 HG02486.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1432+5720C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438011 | ||||||
| chr2:73438083
|
A | T | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1432+5792A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438083 | ||||||
| chr2:73438509
|
A | G | 5 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1432+6218A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438509 | ||||||
| chr2:73438528
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1432+6237G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438528 | ||||||
| chr2:73438614
|
T | C | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6323T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438614 | ||||||
| chr2:73438620
|
T | G | 8 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(5): Show | 8 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.1432+6329T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438620 | ||||||
| chr2:73438648
|
T | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6357T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438648 | ||||||
| chr2:73438650
|
T | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6359T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438650 | ||||||
| chr2:73438651
|
C | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6360C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438651 | ||||||
| chr2:73438652
|
T | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6361T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438652 | ||||||
| chr2:73438653
|
G | T | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.1432+6362G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438653 | ||||||
| chr2:73438689
|
G | T | 5 | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0186others(2): Show | 5 | HG00738.hp2 HG01081.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.1432+6398G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438689 | ||||||
| chr2:73438711
|
A | G | 1 | a0020c0019t0002g0075 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1432+6420A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438711 | ||||||
| chr2:73438738
|
T | C | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.1432+6447T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73438738 | ||||||
| chr2:73438988
|
TTCTTCTT others(2): Show |
T | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.1432+6710_1432+671 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73438988 | |||||
| chr2:73439001
|
T | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1432+6710T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439001 | ||||||
| chr2:73439079
|
TTTC | T | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.1432+6794_1432+679 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73439079 | |||||
| chr2:73439116
|
C | CT | 123 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(120): Show | 123 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(120): Show |
intron_variant | MODIFIER | c.1432+6840dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73439116 | |||||
| chr2:73439140
|
A | T | 2 | a0004c0003t0002g0072a0004c0003t0002g0088 | 2 | HG02451.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1432+6849A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439140 | ||||||
| chr2:73439159
|
C | T | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1432+6868C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439159 | ||||||
| chr2:73439274
|
C | T | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.1432+6983C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439274 | ||||||
| chr2:73439517
|
G | C | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.1432+7226G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439517 | ||||||
| chr2:73439538
|
A | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1432+7247A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439538 | ||||||
| chr2:73439596
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1432+7305G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439596 | ||||||
| chr2:73439601
|
T | C | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.1432+7310T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439601 | ||||||
| chr2:73439689
|
C | A | 8 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(5): Show | 8 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.1432+7398C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439689 | ||||||
| chr2:73439785
|
C | T | 1 | a0007c0006t0001g0163 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1432+7494C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439785 | ||||||
| chr2:73439869
|
A | G | 18 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(15): Show | 18 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1432+7578A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73439869 | ||||||
| chr2:73440019
|
C | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1432+7728C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440019 | ||||||
| chr2:73440057
|
T | G | 1 | a0011c0048t0001g0197 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1432+7766T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440057 | ||||||
| chr2:73440073
|
C | T | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1432+7782C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440073 | ||||||
| chr2:73440114
|
G | C | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1432+7823G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440114 | ||||||
| chr2:73440137
|
C | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.1433-7823C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440137 | ||||||
| chr2:73440164
|
G | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.1433-7796G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440164 | ||||||
| chr2:73440202
|
C | T | 9 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(6): Show | 9 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1433-7758C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440202 | ||||||
| chr2:73440280
|
G | A | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1433-7680G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440280 | ||||||
| chr2:73440432
|
C | G | 1 | a0001c0001t0001g0141 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1433-7528C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440432 | ||||||
| chr2:73440441
|
G | A | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1433-7519G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440441 | ||||||
| chr2:73440444
|
T | A | 3 | a0002c0004t0001g0239a0002c0004t0001g0247a0032c0046t0001g0230 | 3 | HG01243.hp1 NA18522.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1433-7516T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440444 | ||||||
| chr2:73440468
|
C | A | 1 | a0001c0001t0001g0219 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1433-7492C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440468 | ||||||
| chr2:73440764
|
A | G | 4 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(1): Show | 4 | HG01167.hp1 HG01169.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1433-7196A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440764 | ||||||
| chr2:73440839
|
A | G | 1 | a0003c0002t0001g0008 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1433-7121A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440839 | ||||||
| chr2:73440858
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1433-7102G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440858 | ||||||
| chr2:73440909
|
G | T | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.1433-7051G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73440909 | ||||||
| chr2:73441610
|
A | ACTATTC | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.1433-6332_1433-632 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73441610 | |||||
| chr2:73441610
|
A | ACTATTCC others(5): Show |
83 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(80): Show | 83 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.1433-6338_1433-632 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73441610 | |||||
| chr2:73441610
|
A | ACTATTCC others(11): Show |
11 | a0002c0004t0001g0051a0002c0004t0001g0052a0002c0020t0001g0208others(8): Show | 11 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1433-6344_1433-632 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73441610 | |||||
| chr2:73441610
|
A | ACTATTCC others(17): Show |
9 | a0002c0020t0001g0207a0002c0040t0001g0206a0006c0007t0001g0098others(6): Show | 9 | HG01099.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.1433-6327_1433-632 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73441610 | |||||
| chr2:73441689
|
G | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1433-6271G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73441689 | ||||||
| chr2:73441735
|
T | G | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1433-6225T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73441735 | ||||||
| chr2:73441779
|
G | GT | 30 | a0003c0002t0001g0023a0004c0003t0002g0064a0004c0003t0002g0065others(27): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.1433-6171dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73441779 | |||||
| chr2:73441852
|
A | G | 2 | a0001c0001t0001g0137a0001c0001t0001g0159 | 2 | NA18961.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.1433-6108A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73441852 | ||||||
| chr2:73441917
|
A | G | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1433-6043A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73441917 | ||||||
| chr2:73442058
|
T | C | 96 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(93): Show | 96 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.1433-5902T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442058 | ||||||
| chr2:73442107
|
G | A | 28 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(25): Show | 28 | HG00609.hp2 HG01169.hp2 HG01256.hp1 others(25): Show |
intron_variant | MODIFIER | c.1433-5853G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442107 | ||||||
| chr2:73442239
|
G | A | 1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1433-5721G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442239 | ||||||
| chr2:73442334
|
C | T | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.1433-5626C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442334 | ||||||
| chr2:73442636
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1433-5324C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442636 | ||||||
| chr2:73442746
|
A | C | 1 | a0003c0002t0001g0026 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1433-5214A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73442746 | ||||||
| chr2:73443434
|
C | T | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.1433-4526C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73443434 | ||||||
| chr2:73443497
|
G | A | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1433-4463G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73443497 | ||||||
| chr2:73443580
|
CT | C | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.1433-4372delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73443580 | |||||
| chr2:73444101
|
A | G | 209 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
intron_variant | MODIFIER | c.1433-3859A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73444101 | ||||||
| chr2:73444251
|
C | G | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1433-3709C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73444251 | ||||||
| chr2:73445040
|
G | GT | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.1433-2917dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73445040 | |||||
| chr2:73445228
|
C | T | 13 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(10): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.1433-2732C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73445228 | ||||||
| chr2:73445501
|
C | T | 29 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(26): Show | 29 | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(26): Show |
intron_variant | MODIFIER | c.1433-2459C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73445501 | ||||||
| chr2:73445646
|
T | TA | 209 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
intron_variant | MODIFIER | c.1433-2313dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73445646 | |||||
| chr2:73445751
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1433-2209C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73445751 | ||||||
| chr2:73445784
|
C | CT | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.1433-2172dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73445784 | |||||
| chr2:73445995
|
C | T | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1433-1965C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73445995 | ||||||
| chr2:73445997
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1433-1963T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73445997 | ||||||
| chr2:73446080
|
A | G | 3 | a0002c0004t0001g0034a0002c0004t0001g0036a0002c0004t0001g0037 | 3 | HG01891.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1433-1880A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73446080 | ||||||
| chr2:73446095
|
T | G | 1 | a0001c0001t0001g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1433-1865T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73446095 | ||||||
| chr2:73446670
|
C | T | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.1433-1290C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73446670 | ||||||
| chr2:73447058
|
C | CTGTT | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.1433-900_1433-897d others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73447058 | |||||
| chr2:73447133
|
G | T | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.1433-827G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73447133 | ||||||
| chr2:73447772
|
A | AT | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.1433-186dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73447772 | |||||
| chr2:73447817
|
C | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1433-143C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73447817 | ||||||
| chr2:73447837
|
T | C | 13 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(10): Show | 13 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.1433-123T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | chr2 | 73447837 | ||||||
| chr2:73447890
|
C | CT | 129 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.1433-64dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 73447890 | |||||
| chr2:73454224
|
T | TAGAATTG others(317): Show |
1 | a0048c0059t0001g0155 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.7540+166_7540+167i others(326): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 73454224 | |||||
| chr2:73454224
|
T | TAGAATTG others(335): Show |
1 | a0013c0014t0001g0172 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.7540+166_7540+167i others(344): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 73454224 | |||||
| chr2:73454464
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7540+397C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454464 | ||||||
| chr2:73454512
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.7540+445A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454512 | ||||||
| chr2:73454574
|
T | A | 13 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(10): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.7540+507T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454574 | ||||||
| chr2:73454741
|
C | T | 1 | a0001c0001t0001g0124 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.7541-421C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454741 | ||||||
| chr2:73454982
|
G | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7541-180G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454982 | ||||||
| chr2:73454999
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7541-163A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73454999 | ||||||
| chr2:73455129
|
T | C | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.7541-33T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/22 | chr2 | 73455129 | ||||||
| chr2:73455556
|
G | A | 1 | a0004c0003t0002g0076 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.7674+261G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73455556 | ||||||
| chr2:73455702
|
A | C | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.7674+407A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73455702 | ||||||
| chr2:73455842
|
A | AT | 12 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(9): Show | 12 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.7674+557dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73455842 | |||||
| chr2:73455842
|
AT | A | 9 | a0003c0002t0001g0008a0008c0008t0001g0231a0008c0008t0001g0232others(6): Show | 9 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.7674+557delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73455842 | |||||
| chr2:73455923
|
A | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7674+628A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73455923 | ||||||
| chr2:73456388
|
C | A | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.7674+1093C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73456388 | ||||||
| chr2:73456613
|
A | C | 1 | a0002c0004t0001g0051 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7674+1318A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73456613 | ||||||
| chr2:73456818
|
A | G | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.7674+1523A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73456818 | ||||||
| chr2:73456870
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7674+1575C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73456870 | ||||||
| chr2:73457287
|
A | G | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.7674+1992A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73457287 | ||||||
| chr2:73457450
|
C | A | 8 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(5): Show | 8 | HG02647.hp1 HG02896.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+2155C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73457450 | ||||||
| chr2:73457465
|
A | G | 4 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0219others(1): Show | 4 | HG02293.hp2 NA18950.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.7674+2170A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73457465 | ||||||
| chr2:73457601
|
A | G | 2 | a0001c0001t0001g0179a0001c0001t0001g0219 | 2 | HG02293.hp2 NA19000.hp2 |
intron_variant | MODIFIER | c.7674+2306A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73457601 | ||||||
| chr2:73457805
|
G | C | 13 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(10): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.7674+2510G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73457805 | ||||||
| chr2:73458033
|
C | CA | 7 | a0003c0002t0001g0022a0003c0002t0001g0028a0008c0008t0001g0231others(4): Show | 7 | HG02257.hp2 HG02809.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.7674+2758dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAA | 68 | a0001c0001t0001g0001a0001c0001t0001g0095a0001c0001t0001g0124others(65): Show | 68 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(65): Show |
intron_variant | MODIFIER | c.7674+2754_7674+275 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAA | 39 | a0001c0001t0001g0002a0001c0001t0001g0154a0001c0001t0001g0170others(36): Show | 39 | HG00642.hp2 HG01099.hp2 HG01167.hp1 others(36): Show |
intron_variant | MODIFIER | c.7674+2753_7674+275 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAAA | 44 | a0001c0001t0001g0218a0002c0020t0001g0207a0002c0020t0001g0208others(41): Show | 44 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(41): Show |
intron_variant | MODIFIER | c.7674+2752_7674+275 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAAA others(1): Show |
19 | a0001c0001t0001g0217a0002c0004t0001g0033a0002c0004t0001g0035others(16): Show | 19 | HG01109.hp1 HG01361.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.7674+2751_7674+275 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAAA others(2): Show |
17 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0034others(14): Show | 17 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(14): Show |
intron_variant | MODIFIER | c.7674+2750_7674+275 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAAA others(3): Show |
9 | a0002c0052t0001g0040a0009c0013t0001g0240a0009c0013t0001g0244others(6): Show | 9 | HG01243.hp2 HG01261.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.7674+2749_7674+275 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458033
|
C | CAAAAAAA others(4): Show |
1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7674+2748_7674+275 others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73458033 | |||||
| chr2:73458180
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7674+2885C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458180 | ||||||
| chr2:73458270
|
T | G | 1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.7674+2975T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458270 | ||||||
| chr2:73458347
|
A | G | 1 | a0001c0001t0001g0151 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.7674+3052A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458347 | ||||||
| chr2:73458360
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7674+3065C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458360 | ||||||
| chr2:73458423
|
C | T | 3 | a0003c0002t0001g0029a0003c0002t0001g0030a0003c0002t0001g0063 | 3 | NA18944.hp1 NA18956.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.7674+3128C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458423 | ||||||
| chr2:73458710
|
G | A | 15 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(12): Show | 15 | HG00735.hp1 HG02451.hp2 HG02622.hp1 others(12): Show |
intron_variant | MODIFIER | c.7674+3415G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458710 | ||||||
| chr2:73458725
|
G | A | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+3430G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458725 | ||||||
| chr2:73458881
|
T | C | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7674+3586T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73458881 | ||||||
| chr2:73459114
|
T | C | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.7674+3819T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459114 | ||||||
| chr2:73459308
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+4013C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459308 | ||||||
| chr2:73459507
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+4212T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459507 | ||||||
| chr2:73459507
|
T | C | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.7674+4212T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459507 | ||||||
| chr2:73459582
|
C | T | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+4287C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459582 | ||||||
| chr2:73459583
|
G | T | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+4288G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459583 | ||||||
| chr2:73459824
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7674+4529G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459824 | ||||||
| chr2:73459898
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+4603T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459898 | ||||||
| chr2:73459950
|
G | T | 127 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(124): Show | 127 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.7674+4655G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459950 | ||||||
| chr2:73459955
|
G | A | 1 | a0003c0002t0001g0020 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.7674+4660G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459955 | ||||||
| chr2:73459967
|
A | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7674+4672A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459967 | ||||||
| chr2:73459993
|
G | C | 1 | a0024c0030t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.7674+4698G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73459993 | ||||||
| chr2:73460017
|
C | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7674+4722C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460017 | ||||||
| chr2:73460105
|
T | C | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.7674+4810T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460105 | ||||||
| chr2:73460141
|
A | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7674+4846A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460141 | ||||||
| chr2:73460555
|
C | T | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.7674+5260C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460555 | ||||||
| chr2:73460625
|
C | T | 1 | a0056c0073t0001g0123 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.7674+5330C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460625 | ||||||
| chr2:73460667
|
G | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+5372G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460667 | ||||||
| chr2:73460738
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+5443A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460738 | ||||||
| chr2:73460851
|
A | T | 1 | a0007c0006t0001g0152 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.7674+5556A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460851 | ||||||
| chr2:73460879
|
C | T | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7674+5584C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460879 | ||||||
| chr2:73460891
|
A | G | 8 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(5): Show | 8 | HG02647.hp1 HG02896.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+5596A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460891 | ||||||
| chr2:73460946
|
C | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7674+5651C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460946 | ||||||
| chr2:73460965
|
T | C | 246 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(243): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.7674+5670T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460965 | ||||||
| chr2:73460984
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+5689C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73460984 | ||||||
| chr2:73461087
|
G | A | 1 | a0001c0001t0001g0171 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.7674+5792G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461087 | ||||||
| chr2:73461090
|
G | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+5795G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461090 | ||||||
| chr2:73461153
|
C | G | 1 | a0010c0009t0001g0184 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7674+5858C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461153 | ||||||
| chr2:73461157
|
C | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+5862C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461157 | ||||||
| chr2:73461191
|
G | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+5896G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461191 | ||||||
| chr2:73461216
|
A | G | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.7674+5921A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461216 | ||||||
| chr2:73461257
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.7674+5962A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461257 | ||||||
| chr2:73461282
|
A | G | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.7674+5987A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461282 | ||||||
| chr2:73461322
|
G | A | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7674+6027G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461322 | ||||||
| chr2:73461381
|
C | G | 1 | a0001c0001t0001g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.7674+6086C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461381 | ||||||
| chr2:73461458
|
G | A | 2 | a0003c0002t0001g0026a0040c0036t0001g0027 | 2 | NA18998.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.7674+6163G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461458 | ||||||
| chr2:73461494
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7674+6199C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461494 | ||||||
| chr2:73461635
|
G | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+6340G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461635 | ||||||
| chr2:73461657
|
C | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+6362C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461657 | ||||||
| chr2:73461743
|
T | C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+6448T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461743 | ||||||
| chr2:73461885
|
C | T | 13 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(10): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.7674+6590C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461885 | ||||||
| chr2:73461886
|
G | A | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.7674+6591G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461886 | ||||||
| chr2:73461963
|
C | A | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.7674+6668C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461963 | ||||||
| chr2:73461973
|
G | A | 1 | a0010c0009t0001g0185 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.7674+6678G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461973 | ||||||
| chr2:73461999
|
A | G | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.7674+6704A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73461999 | ||||||
| chr2:73462003
|
A | G | 1 | a0006c0010t0001g0097 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7674+6708A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462003 | ||||||
| chr2:73462032
|
C | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+6737C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462032 | ||||||
| chr2:73462045
|
G | A | 8 | a0002c0004t0001g0239a0002c0004t0001g0247a0005c0005t0001g0109others(5): Show | 8 | HG00642.hp2 HG01243.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.7674+6750G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462045 | ||||||
| chr2:73462219
|
A | G | 1 | a0002c0004t0001g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.7674+6924A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462219 | ||||||
| chr2:73462293
|
G | C | 1 | a0002c0047t0001g0047 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.7674+6998G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462293 | ||||||
| chr2:73462296
|
A | T | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.7674+7001A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462296 | ||||||
| chr2:73462350
|
G | C | 10 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(7): Show | 10 | HG02055.hp1 HG02622.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.7674+7055G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462350 | ||||||
| chr2:73462457
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+7162C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462457 | ||||||
| chr2:73462562
|
A | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+7267A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462562 | ||||||
| chr2:73462588
|
C | T | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+7293C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462588 | ||||||
| chr2:73462591
|
C | A | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+7296C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462591 | ||||||
| chr2:73462770
|
A | G | 1 | a0007c0006t0001g0127 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.7674+7475A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462770 | ||||||
| chr2:73462846
|
A | G | 112 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(109): Show | 112 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(109): Show |
intron_variant | MODIFIER | c.7674+7551A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462846 | ||||||
| chr2:73462902
|
A | G | 7 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(4): Show | 7 | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.7674+7607A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462902 | ||||||
| chr2:73462912
|
T | C | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.7674+7617T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73462912 | ||||||
| chr2:73463009
|
G | C | 1 | a0003c0002t0001g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.7674+7714G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463009 | ||||||
| chr2:73463048
|
C | T | 2 | a0008c0008t0001g0233a0008c0008t0001g0234 | 2 | HG02895.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.7674+7753C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463048 | ||||||
| chr2:73463160
|
C | T | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.7674+7865C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463160 | ||||||
| chr2:73463174
|
G | A | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.7674+7879G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463174 | ||||||
| chr2:73463186
|
A | C | 1 | a0002c0004t0001g0005 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.7674+7891A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463186 | ||||||
| chr2:73463340
|
C | A | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7674+8045C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463340 | ||||||
| chr2:73463364
|
C | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7674+8069C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463364 | ||||||
| chr2:73463377
|
C | G | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7674+8082C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463377 | ||||||
| chr2:73463487
|
C | A | 1 | a0003c0002t0001g0020 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.7674+8192C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463487 | ||||||
| chr2:73463693
|
C | T | 189 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(186): Show |
intron_variant | MODIFIER | c.7674+8398C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463693 | ||||||
| chr2:73463749
|
A | G | 1 | a0001c0001t0001g0192 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.7674+8454A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463749 | ||||||
| chr2:73463756
|
A | G | 22 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(19): Show | 22 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.7674+8461A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463756 | ||||||
| chr2:73463761
|
G | C | 1 | a0003c0002t0001g0014 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.7674+8466G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463761 | ||||||
| chr2:73463823
|
T | C | 2 | a0003c0002t0001g0093a0010c0009t0001g0187 | 2 | HG00621.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.7674+8528T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463823 | ||||||
| chr2:73463824
|
G | A | 2 | a0003c0002t0001g0093a0010c0009t0001g0187 | 2 | HG00621.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.7674+8529G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463824 | ||||||
| chr2:73463856
|
C | T | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.7674+8561C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463856 | ||||||
| chr2:73463865
|
T | C | 193 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(190): Show | 193 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(190): Show |
intron_variant | MODIFIER | c.7674+8570T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463865 | ||||||
| chr2:73463891
|
A | C | 2 | a0001c0001t0001g0141a0001c0001t0001g0182 | 2 | HG00642.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.7674+8596A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463891 | ||||||
| chr2:73463923
|
A | G | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.7674+8628A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73463923 | ||||||
| chr2:73464017
|
C | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7674+8722C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464017 | ||||||
| chr2:73464068
|
A | G | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7674+8773A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464068 | ||||||
| chr2:73464089
|
A | G | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7674+8794A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464089 | ||||||
| chr2:73464140
|
C | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+8845C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464140 | ||||||
| chr2:73464319
|
A | C | 2 | a0013c0014t0001g0172a0048c0059t0001g0155 | 2 | HG01261.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.7674+9024A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464319 | ||||||
| chr2:73464397
|
C | G | 87 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(84): Show | 87 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.7674+9102C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464397 | ||||||
| chr2:73464439
|
T | C | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7674+9144T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464439 | ||||||
| chr2:73464545
|
G | T | 2 | a0022c0028t0001g0009a0022c0028t0001g0010 | 2 | NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.7674+9250G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464545 | ||||||
| chr2:73464632
|
A | G | 1 | a0002c0004t0001g0048 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7674+9337A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464632 | ||||||
| chr2:73464648
|
C | G | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.7674+9353C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464648 | ||||||
| chr2:73464698
|
C | T | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+9403C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464698 | ||||||
| chr2:73464699
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.7674+9404G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464699 | ||||||
| chr2:73464861
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.7674+9566G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464861 | ||||||
| chr2:73464863
|
A | C | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7674+9568A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464863 | ||||||
| chr2:73464908
|
A | G | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.7674+9613A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464908 | ||||||
| chr2:73464947
|
G | T | 4 | a0010c0009t0001g0184a0010c0009t0001g0185a0047c0061t0001g0183others(1): Show | 4 | HG02257.hp2 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+9652G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464947 | ||||||
| chr2:73464987
|
G | A | 4 | a0001c0001t0001g0136a0001c0001t0001g0138a0001c0066t0001g0135others(1): Show | 4 | HG01081.hp1 HG01099.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+9692G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73464987 | ||||||
| chr2:73465023
|
A | AGGTAATT others(35): Show |
7 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(4): Show | 7 | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.7674+9768_7674+980 others(46): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73465023 | |||||
| chr2:73465023
|
AGGTAATT others(35): Show |
A | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.7674+9768_7674+980 others(46): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73465023 | |||||
| chr2:73465041
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+9746A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465041 | ||||||
| chr2:73465060
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+9765A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465060 | ||||||
| chr2:73465105
|
G | A | 4 | a0010c0009t0001g0168a0010c0009t0001g0169a0017c0017t0003g0224others(1): Show | 4 | HG01192.hp1 HG03540.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+9810G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465105 | ||||||
| chr2:73465106
|
G | A | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.7674+9811G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465106 | ||||||
| chr2:73465109
|
A | C | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.7674+9814A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465109 | ||||||
| chr2:73465130
|
G | A | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.7674+9835G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465130 | ||||||
| chr2:73465177
|
C | G | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.7674+9882C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465177 | ||||||
| chr2:73465219
|
A | G | 1 | a0007c0006t0001g0122 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.7674+9924A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465219 | ||||||
| chr2:73465261
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+9966A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465261 | ||||||
| chr2:73465433
|
A | G | 1 | a0023c0027t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.7674+10138A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465433 | ||||||
| chr2:73465457
|
C | T | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.7674+10162C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465457 | ||||||
| chr2:73465525
|
T | C | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.7674+10230T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465525 | ||||||
| chr2:73465582
|
A | G | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.7674+10287A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465582 | ||||||
| chr2:73465623
|
C | A | 1 | a0017c0017t0003g0225 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7674+10328C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465623 | ||||||
| chr2:73465691
|
G | A | 1 | a0004c0003t0002g0067 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.7674+10396G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465691 | ||||||
| chr2:73465692
|
T | G | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.7674+10397T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465692 | ||||||
| chr2:73465696
|
G | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.7674+10401G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465696 | ||||||
| chr2:73465700
|
A | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+10405A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465700 | ||||||
| chr2:73465726
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+10431C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465726 | ||||||
| chr2:73465820
|
T | C | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7674+10525T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465820 | ||||||
| chr2:73465827
|
T | C | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7674+10532T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465827 | ||||||
| chr2:73465865
|
G | C | 1 | a0001c0001t0001g0143 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.7674+10570G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465865 | ||||||
| chr2:73465899
|
G | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+10604G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465899 | ||||||
| chr2:73465901
|
A | C | 1 | a0007c0006t0001g0158 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7674+10606A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73465901 | ||||||
| chr2:73466012
|
T | C | 1 | a0005c0005t0001g0106 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.7674+10717T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466012 | ||||||
| chr2:73466020
|
CT | C | 247 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(244): Show | 247 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show |
intron_variant | MODIFIER | c.7674+10728delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73466020 | |||||
| chr2:73466038
|
A | T | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.7674+10743A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466038 | ||||||
| chr2:73466075
|
T | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7674+10780T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466075 | ||||||
| chr2:73466099
|
G | A | 1 | a0030c0038t0001g0055 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.7674+10804G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466099 | ||||||
| chr2:73466331
|
G | A | 1 | a0034c0049t0001g0039 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.7674+11036G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466331 | ||||||
| chr2:73466339
|
A | G | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7674+11044A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466339 | ||||||
| chr2:73466496
|
A | AG | 15 | a0002c0004t0001g0005a0002c0004t0001g0052a0003c0002t0001g0008others(12): Show | 15 | HG00621.hp2 HG00738.hp1 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.7674+11207dupG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73466496 | |||||
| chr2:73466499
|
G | C | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7674+11204G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466499 | ||||||
| chr2:73466512
|
G | C | 2 | a0002c0011t0001g0006a0002c0011t0001g0042 | 2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.7674+11217G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466512 | ||||||
| chr2:73466652
|
T | A | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.7674+11357T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466652 | ||||||
| chr2:73466774
|
C | G | 7 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(4): Show | 7 | HG02622.hp1 HG02647.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.7674+11479C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466774 | ||||||
| chr2:73466916
|
A | G | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.7674+11621A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466916 | ||||||
| chr2:73466926
|
T | C | 1 | a0001c0001t0001g0151 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.7674+11631T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466926 | ||||||
| chr2:73466984
|
A | G | 2 | a0016c0016t0001g0220a0016c0016t0001g0221 | 2 | NA18947.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.7674+11689A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73466984 | ||||||
| chr2:73467033
|
T | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.7674+11738T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467033 | ||||||
| chr2:73467084
|
G | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7674+11789G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467084 | ||||||
| chr2:73467116
|
A | G | 1 | a0004c0003t0002g0064 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.7674+11821A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467116 | ||||||
| chr2:73467117
|
C | CTA | 211 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(208): Show | 211 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
intron_variant | MODIFIER | c.7674+11823_7674+11 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73467117 | |||||
| chr2:73467201
|
A | G | 8 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(5): Show | 8 | HG02647.hp1 HG02896.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+11906A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467201 | ||||||
| chr2:73467376
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7674+12081T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467376 | ||||||
| chr2:73467523
|
C | G | 1 | a0002c0011t0001g0006 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.7674+12228C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467523 | ||||||
| chr2:73467637
|
G | A | 204 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(201): Show | 204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.7674+12342G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467637 | ||||||
| chr2:73467755
|
A | G | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7674+12460A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467755 | ||||||
| chr2:73467807
|
C | T | 2 | a0001c0001t0001g0174a0015c0015t0001g0181 | 2 | HG00280.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.7674+12512C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467807 | ||||||
| chr2:73467833
|
A | T | 1 | a0009c0013t0001g0240 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.7674+12538A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467833 | ||||||
| chr2:73467950
|
G | A | 1 | a0037c0044t0002g0079 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.7674+12655G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73467950 | ||||||
| chr2:73468007
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+12712C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468007 | ||||||
| chr2:73468072
|
A | T | 1 | a0002c0052t0001g0040 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.7674+12777A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468072 | ||||||
| chr2:73468224
|
C | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.7674+12929C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468224 | ||||||
| chr2:73468310
|
ACT | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7674+13018_7674+13 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73468310 | |||||
| chr2:73468481
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.7674+13186G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468481 | ||||||
| chr2:73468674
|
A | T | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.7674+13379A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468674 | ||||||
| chr2:73468711
|
T | C | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7674+13416T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468711 | ||||||
| chr2:73468782
|
T | G | 1 | a0033c0055t0001g0201 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.7674+13487T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73468782 | ||||||
| chr2:73469116
|
A | G | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.7674+13821A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469116 | ||||||
| chr2:73469200
|
C | T | 1 | a0004c0003t0002g0071 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.7674+13905C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469200 | ||||||
| chr2:73469248
|
G | A | 13 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(10): Show | 13 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.7674+13953G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469248 | ||||||
| chr2:73469345
|
C | T | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7674+14050C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469345 | ||||||
| chr2:73469362
|
A | T | 2 | a0001c0001t0001g0137a0001c0001t0001g0159 | 2 | NA18961.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.7674+14067A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469362 | ||||||
| chr2:73469428
|
G | A | 1 | a0048c0059t0001g0155 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.7674+14133G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469428 | ||||||
| chr2:73469490
|
A | G | 6 | a0001c0001t0001g0136a0001c0001t0001g0138a0001c0001t0001g0157others(3): Show | 6 | HG00099.hp1 HG01070.hp1 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.7674+14195A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469490 | ||||||
| chr2:73469498
|
C | G | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7674+14203C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469498 | ||||||
| chr2:73469557
|
A | G | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.7674+14262A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469557 | ||||||
| chr2:73469702
|
T | C | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7674+14407T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469702 | ||||||
| chr2:73469736
|
G | T | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.7674+14441G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469736 | ||||||
| chr2:73469771
|
TA | T | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.7674+14477delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469771 | ||||||
| chr2:73469965
|
C | T | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.7674+14670C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73469965 | ||||||
| chr2:73470338
|
C | T | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7674+15043C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73470338 | ||||||
| chr2:73470633
|
CTG | C | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7674+15342_7674+15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73470633 | |||||
| chr2:73470717
|
C | T | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.7674+15422C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73470717 | ||||||
| chr2:73471224
|
CT | C | 25 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(22): Show | 25 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(22): Show |
intron_variant | MODIFIER | c.7674+15941delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471224 | |||||
| chr2:73471349
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.7674+16054T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471349 | ||||||
| chr2:73471389
|
G | C | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.7674+16094G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471389 | ||||||
| chr2:73471391
|
C | A | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.7674+16096C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471391 | ||||||
| chr2:73471406
|
A | G | 3 | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196 | 3 | HG02970.hp1 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.7674+16111A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471406 | ||||||
| chr2:73471493
|
C | CA | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(77): Show | 80 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.7674+16215dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAA | 5 | a0001c0001t0001g0154a0002c0020t0001g0208a0002c0040t0001g0206others(2): Show | 5 | HG01175.hp2 HG01993.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.7674+16214_7674+16 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAAA | 12 | a0002c0020t0001g0207a0004c0003t0002g0064a0004c0003t0002g0066others(9): Show | 12 | HG01069.hp2 HG01070.hp2 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.7674+16213_7674+16 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAAAA | 13 | a0002c0054t0001g0193a0004c0003t0002g0065a0011c0022t0001g0199others(10): Show | 13 | HG01109.hp2 HG01361.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+16212_7674+16 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAAAAA | 37 | a0002c0004t0001g0033a0002c0004t0001g0247a0002c0011t0001g0042others(34): Show | 37 | HG00323.hp1 HG01167.hp1 HG01169.hp1 others(34): Show |
intron_variant | MODIFIER | c.7674+16211_7674+16 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAAAAAA | 42 | a0002c0004t0001g0031a0002c0004t0001g0034a0002c0004t0001g0035others(39): Show | 42 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.7674+16210_7674+16 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
C | CAAAAAAA | 6 | a0002c0004t0001g0005a0002c0004t0001g0051a0002c0004t0001g0052others(3): Show | 6 | HG01109.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.7674+16209_7674+16 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471493
|
CA | C | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7674+16215delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73471493 | |||||
| chr2:73471581
|
A | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7674+16286A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471581 | ||||||
| chr2:73471625
|
G | A | 8 | a0004c0003t0002g0074a0009c0013t0001g0240a0009c0013t0001g0242others(5): Show | 8 | HG02602.hp1 HG02622.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.7674+16330G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471625 | ||||||
| chr2:73471966
|
G | T | 2 | a0012c0012t0001g0202a0012c0012t0001g0204 | 2 | HG02970.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.7674+16671G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471966 | ||||||
| chr2:73471990
|
A | G | 1 | a0003c0002t0001g0061 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.7674+16695A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73471990 | ||||||
| chr2:73472041
|
C | T | 2 | a0020c0019t0002g0075a0020c0019t0002g0090 | 2 | HG02300.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.7674+16746C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472041 | ||||||
| chr2:73472239
|
G | A | 2 | a0021c0029t0001g0119a0021c0029t0001g0121 | 2 | HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7674+16944G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472239 | ||||||
| chr2:73472537
|
C | T | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-17097C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472537 | ||||||
| chr2:73472631
|
C | A | 1 | a0007c0006t0001g0148 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.7675-17003C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472631 | ||||||
| chr2:73472642
|
C | T | 1 | a0009c0013t0001g0242 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7675-16992C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472642 | ||||||
| chr2:73472663
|
C | A | 1 | a0047c0061t0001g0183 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7675-16971C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472663 | ||||||
| chr2:73472966
|
A | G | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-16668A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472966 | ||||||
| chr2:73472993
|
G | A | 1 | a0015c0015t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.7675-16641G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73472993 | ||||||
| chr2:73473004
|
A | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.7675-16630A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473004 | ||||||
| chr2:73473033
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.7675-16601T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473033 | ||||||
| chr2:73473234
|
A | G | 1 | a0023c0027t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.7675-16400A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473234 | ||||||
| chr2:73473253
|
G | GT | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.7675-16373dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73473253 | |||||
| chr2:73473296
|
G | A | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.7675-16338G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473296 | ||||||
| chr2:73473305
|
G | A | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.7675-16329G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473305 | ||||||
| chr2:73473356
|
A | G | 1 | a0030c0038t0001g0055 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.7675-16278A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473356 | ||||||
| chr2:73473684
|
AAG | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-15946_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73473684 | |||||
| chr2:73473726
|
G | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-15908G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473726 | ||||||
| chr2:73473803
|
A | G | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-15831A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473803 | ||||||
| chr2:73473813
|
T | C | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-15821T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73473813 | ||||||
| chr2:73473920
|
A | AAG | 7 | a0004c0003t0002g0080a0011c0022t0001g0199a0012c0012t0001g0202others(4): Show | 7 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.7675-15688_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73473920 | |||||
| chr2:73473920
|
AAG | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-15688_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73473920 | |||||
| chr2:73473920
|
AAGAG | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-15690_7675-15 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73473920 | |||||
| chr2:73474183
|
T | G | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7675-15451T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474183 | ||||||
| chr2:73474219
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.7675-15415C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474219 | ||||||
| chr2:73474319
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7675-15315C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474319 | ||||||
| chr2:73474371
|
C | CTG | 21 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(18): Show | 21 | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(18): Show |
intron_variant | MODIFIER | c.7675-15225_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474371 | |||||
| chr2:73474371
|
C | CTGTG | 6 | a0003c0002t0001g0015a0003c0002t0001g0059a0003c0002t0001g0060others(3): Show | 6 | HG01192.hp1 NA18906.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.7675-15227_7675-15 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474371 | |||||
| chr2:73474371
|
C | G | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.7675-15263C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474371 | ||||||
| chr2:73474371
|
CTG | C | 3 | a0010c0009t0001g0187a0039c0037t0001g0032a0043c0062t0001g0120 | 3 | HG03225.hp2 NA19009.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-15225_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474371 | |||||
| chr2:73474371
|
CTGTGTGT others(17): Show |
C | 4 | a0010c0009t0001g0184a0010c0009t0001g0185a0047c0061t0001g0183others(1): Show | 4 | HG02257.hp2 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-15247_7675-15 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474371 | |||||
| chr2:73474385
|
G | C | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.7675-15249G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474385 | ||||||
| chr2:73474393
|
GTGTGTGT others(11): Show |
G | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.7675-15239_7675-15 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474393 | |||||
| chr2:73474399
|
G | C | 1 | a0012c0012t0001g0202 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.7675-15235G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474399 | ||||||
| chr2:73474403
|
G | C | 12 | a0002c0054t0001g0193a0004c0003t0002g0083a0009c0026t0001g0241others(9): Show | 12 | HG01361.hp1 HG02004.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.7675-15231G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474403 | ||||||
| chr2:73474403
|
G | GTC | 27 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(24): Show | 27 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.7675-15230_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474403 | |||||
| chr2:73474403
|
G | GTGTGTC | 21 | a0002c0004t0001g0031a0002c0004t0001g0046a0002c0004t0001g0051others(18): Show | 21 | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.7675-15226_7675-15 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474403 | |||||
| chr2:73474403
|
G | GTGTGTGT others(3): Show |
2 | a0002c0004t0001g0033a0002c0004t0001g0239 | 2 | HG02615.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.7675-15224_7675-15 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474403 | |||||
| chr2:73474405
|
G | C | 4 | a0004c0003t0002g0076a0007c0006t0001g0166a0007c0006t0001g0173others(1): Show | 4 | HG01257.hp2 HG01346.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.7675-15229G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474405 | ||||||
| chr2:73474405
|
G | GTC | 70 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(67): Show | 70 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.7675-15228_7675-15 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474405 | |||||
| chr2:73474407
|
G | GTCTGTGT others(1): Show |
18 | a0001c0001t0001g0126a0001c0001t0001g0136a0001c0001t0001g0144others(15): Show | 18 | HG00735.hp2 HG00738.hp2 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.7675-15226_7675-15 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474407
|
G | GTGTGTCT others(5): Show |
2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7675-15224_7675-15 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474407
|
G | GTGTGTGT others(7): Show |
10 | a0005c0005t0001g0107a0005c0005t0001g0115a0005c0005t0001g0116others(7): Show | 10 | HG00735.hp1 HG01928.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.7675-15224_7675-15 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474407
|
G | GTGTGTGT others(5): Show |
2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.7675-15224_7675-15 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474407
|
G | GTGTGTGT others(11): Show |
1 | a0005c0005t0001g0109 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.7675-15224_7675-15 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474407
|
G | GTGTGTGT others(13): Show |
9 | a0005c0005t0001g0106a0005c0005t0001g0108a0005c0005t0001g0111others(6): Show | 9 | HG01433.hp2 HG01943.hp1 HG01993.hp1 others(6): Show |
intron_variant | MODIFIER | c.7675-15224_7675-15 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474407 | |||||
| chr2:73474411
|
C | CTGTG | 73 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(70): Show | 73 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.7675-15222_7675-15 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474411 | |||||
| chr2:73474411
|
C | CTGTGTCT others(3): Show |
3 | a0001c0001t0001g0138a0001c0001t0001g0146a0028c0033t0001g0238 | 3 | HG01975.hp2 HG02451.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.7675-15222_7675-15 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474411 | |||||
| chr2:73474411
|
C | CTGTGTGT others(1): Show |
22 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(19): Show | 22 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
intron_variant | MODIFIER | c.7675-15222_7675-15 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73474411 | |||||
| chr2:73474411
|
C | G | 104 | a0001c0001t0001g0126a0001c0001t0001g0136a0001c0001t0001g0144others(101): Show | 104 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(101): Show |
intron_variant | MODIFIER | c.7675-15223C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474411 | ||||||
| chr2:73474423
|
A | G | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.7675-15211A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474423 | ||||||
| chr2:73474542
|
T | A | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.7675-15092T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474542 | ||||||
| chr2:73474915
|
A | G | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.7675-14719A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474915 | ||||||
| chr2:73474943
|
T | C | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7675-14691T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73474943 | ||||||
| chr2:73475041
|
TC | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7675-14592delC | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475041 | ||||||
| chr2:73475217
|
A | G | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.7675-14417A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475217 | ||||||
| chr2:73475270
|
C | T | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.7675-14364C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475270 | ||||||
| chr2:73475344
|
T | C | 1 | a0007c0006t0001g0127 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.7675-14290T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475344 | ||||||
| chr2:73475473
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-14161A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475473 | ||||||
| chr2:73475841
|
A | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7675-13793A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73475841 | ||||||
| chr2:73475940
|
A | ATATG | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-13693_7675-13 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73475940 | |||||
| chr2:73476245
|
A | G | 3 | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196 | 3 | HG02970.hp1 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.7675-13389A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476245 | ||||||
| chr2:73476247
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7675-13387A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476247 | ||||||
| chr2:73476523
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-13111C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476523 | ||||||
| chr2:73476570
|
G | GT | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-13055dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73476570 | |||||
| chr2:73476584
|
T | G | 240 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(237): Show | 240 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.7675-13050T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476584 | ||||||
| chr2:73476777
|
C | T | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.7675-12857C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476777 | ||||||
| chr2:73476876
|
T | C | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-12758T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73476876 | ||||||
| chr2:73477058
|
C | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-12576C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477058 | ||||||
| chr2:73477073
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.7675-12561A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477073 | ||||||
| chr2:73477075
|
T | G | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7675-12559T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477075 | ||||||
| chr2:73477093
|
T | C | 1 | a0004c0003t0002g0091 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.7675-12541T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477093 | ||||||
| chr2:73477348
|
C | G | 30 | a0002c0004t0001g0033a0004c0003t0002g0064a0004c0003t0002g0065others(27): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.7675-12286C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477348 | ||||||
| chr2:73477467
|
G | A | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7675-12167G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477467 | ||||||
| chr2:73477522
|
G | C | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7675-12112G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477522 | ||||||
| chr2:73477752
|
T | A | 11 | a0003c0002t0001g0059a0008c0008t0001g0231a0008c0008t0001g0232others(8): Show | 11 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.7675-11882T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477752 | ||||||
| chr2:73477753
|
A | T | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7675-11881A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477753 | ||||||
| chr2:73477808
|
G | A | 1 | a0003c0002t0001g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.7675-11826G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477808 | ||||||
| chr2:73477914
|
G | A | 2 | a0003c0002t0001g0026a0040c0036t0001g0027 | 2 | NA18998.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.7675-11720G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477914 | ||||||
| chr2:73477961
|
A | T | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.7675-11673A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73477961 | ||||||
| chr2:73478176
|
G | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7675-11458G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73478176 | ||||||
| chr2:73478587
|
C | G | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.7675-11047C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73478587 | ||||||
| chr2:73478625
|
C | CA | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(114): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.7675-11009_7675-11 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73478625 | ||||||
| chr2:73478656
|
G | GTTTA | 3 | a0030c0038t0001g0055a0037c0044t0002g0079a0043c0062t0001g0120 | 3 | HG01261.hp2 NA19058.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-10950_7675-10 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73478656 | |||||
| chr2:73478656
|
GTTTA | G | 116 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(113): Show | 116 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show |
intron_variant | MODIFIER | c.7675-10950_7675-10 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73478656 | |||||
| chr2:73478656
|
GTTTATTT others(5): Show |
G | 2 | a0021c0029t0001g0119a0021c0029t0001g0121 | 2 | HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7675-10958_7675-10 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73478656 | |||||
| chr2:73478996
|
A | G | 1 | a0010c0009t0001g0185 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.7675-10638A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73478996 | ||||||
| chr2:73479055
|
T | G | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-10579T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479055 | ||||||
| chr2:73479262
|
T | C | 3 | a0003c0002t0001g0013a0003c0002t0001g0014a0003c0002t0001g0015 | 3 | HG02071.hp2 NA18947.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.7675-10372T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479262 | ||||||
| chr2:73479308
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.7675-10326A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479308 | ||||||
| chr2:73479651
|
T | A | 1 | a0053c0070t0001g0139 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.7675-9983T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479651 | ||||||
| chr2:73479732
|
G | T | 11 | a0002c0054t0001g0193a0011c0022t0001g0199a0011c0022t0001g0200others(8): Show | 11 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.7675-9902G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479732 | ||||||
| chr2:73479758
|
G | A | 246 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(243): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.7675-9876G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479758 | ||||||
| chr2:73479765
|
T | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7675-9869T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479765 | ||||||
| chr2:73479777
|
T | G | 1 | a0009c0013t0001g0240 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.7675-9857T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73479777 | ||||||
| chr2:73480072
|
A | T | 1 | a0003c0002t0001g0058 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.7675-9562A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480072 | ||||||
| chr2:73480208
|
T | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.7675-9426T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480208 | ||||||
| chr2:73480324
|
G | A | 1 | a0002c0011t0001g0006 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.7675-9310G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480324 | ||||||
| chr2:73480425
|
A | G | 2 | a0001c0001t0001g0159a0001c0001t0001g0248 | 2 | NA18961.hp1 NA18961.hp2 |
intron_variant | MODIFIER | c.7675-9209A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480425 | ||||||
| chr2:73480444
|
A | G | 3 | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196 | 3 | HG02970.hp1 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.7675-9190A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480444 | ||||||
| chr2:73480449
|
C | G | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-9185C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480449 | ||||||
| chr2:73480588
|
C | G | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.7675-9046C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480588 | ||||||
| chr2:73480628
|
C | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-9006C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480628 | ||||||
| chr2:73480761
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.7675-8873T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480761 | ||||||
| chr2:73480858
|
T | C | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.7675-8776T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480858 | ||||||
| chr2:73480868
|
T | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(115): Show | 118 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.7675-8766T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480868 | ||||||
| chr2:73480920
|
GTTGT | G | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-8707_7675-870 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73480920 | |||||
| chr2:73480924
|
T | G | 1 | a0003c0002t0001g0028 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.7675-8710T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480924 | ||||||
| chr2:73480939
|
T | C | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.7675-8695T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480939 | ||||||
| chr2:73480983
|
G | A | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7675-8651G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480983 | ||||||
| chr2:73480991
|
A | G | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7675-8643A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73480991 | ||||||
| chr2:73481000
|
C | T | 9 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(6): Show | 9 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(6): Show |
intron_variant | MODIFIER | c.7675-8634C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481000 | ||||||
| chr2:73481015
|
A | C | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.7675-8619A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481015 | ||||||
| chr2:73481056
|
G | C | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.7675-8578G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481056 | ||||||
| chr2:73481095
|
T | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-8539T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481095 | ||||||
| chr2:73481174
|
TG | T | 3 | a0002c0011t0001g0006a0002c0011t0001g0041a0002c0011t0001g0042 | 3 | HG00280.hp2 HG00323.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.7675-8459delG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481174 | ||||||
| chr2:73481206
|
T | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.7675-8428T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481206 | ||||||
| chr2:73481209
|
A | G | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-8425A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481209 | ||||||
| chr2:73481256
|
C | A | 4 | a0011c0022t0001g0199a0011c0022t0001g0200a0011c0024t0001g0194others(1): Show | 4 | HG02647.hp1 HG02896.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-8378C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481256 | ||||||
| chr2:73481297
|
C | G | 12 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(9): Show | 12 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.7675-8337C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481297 | ||||||
| chr2:73481489
|
A | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7675-8145A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481489 | ||||||
| chr2:73481548
|
T | G | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-8086T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481548 | ||||||
| chr2:73481578
|
ATGAACTT others(4239): Show |
A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7675-8052_7675-380 others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73481578 | |||||
| chr2:73481618
|
G | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-8016G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481618 | ||||||
| chr2:73481656
|
G | A | 127 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(124): Show | 127 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.7675-7978G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481656 | ||||||
| chr2:73481668
|
C | A | 14 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.7675-7966C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481668 | ||||||
| chr2:73481732
|
T | G | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7675-7902T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481732 | ||||||
| chr2:73481770
|
T | A | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-7864T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481770 | ||||||
| chr2:73481834
|
A | G | 1 | a0001c0001t0001g0178 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.7675-7800A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481834 | ||||||
| chr2:73481899
|
G | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-7735G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73481899 | ||||||
| chr2:73482312
|
T | C | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.7675-7322T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482312 | ||||||
| chr2:73482526
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7675-7108G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482526 | ||||||
| chr2:73482606
|
G | A | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.7675-7028G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482606 | ||||||
| chr2:73482704
|
G | A | 1 | a0007c0006t0001g0163 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.7675-6930G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482704 | ||||||
| chr2:73482734
|
T | C | 2 | a0002c0020t0001g0207a0002c0040t0001g0206 | 2 | HG02055.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.7675-6900T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482734 | ||||||
| chr2:73482755
|
A | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.7675-6879A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482755 | ||||||
| chr2:73482832
|
T | G | 3 | a0001c0001t0001g0175a0001c0001t0001g0176a0015c0015t0001g0214 | 3 | HG01192.hp2 HG02683.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.7675-6802T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482832 | ||||||
| chr2:73482842
|
C | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-6792C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482842 | ||||||
| chr2:73482863
|
C | T | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.7675-6771C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482863 | ||||||
| chr2:73482864
|
A | G | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.7675-6770A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73482864 | ||||||
| chr2:73483140
|
T | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-6494T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483140 | ||||||
| chr2:73483200
|
G | T | 29 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(26): Show | 29 | HG02056.hp1 HG02071.hp2 HG02698.hp2 others(26): Show |
intron_variant | MODIFIER | c.7675-6434G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483200 | ||||||
| chr2:73483306
|
A | G | 29 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(26): Show | 29 | HG02056.hp1 HG02071.hp2 HG02698.hp2 others(26): Show |
intron_variant | MODIFIER | c.7675-6328A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483306 | ||||||
| chr2:73483310
|
G | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7675-6324G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483310 | ||||||
| chr2:73483350
|
C | G | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(77): Show | 80 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.7675-6284C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483350 | ||||||
| chr2:73483356
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6278G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483356 | ||||||
| chr2:73483368
|
T | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6266T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483368 | ||||||
| chr2:73483397
|
T | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6237T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483397 | ||||||
| chr2:73483402
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6232T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483402 | ||||||
| chr2:73483410
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6224T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483410 | ||||||
| chr2:73483412
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6222G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483412 | ||||||
| chr2:73483456
|
G | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6178G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483456 | ||||||
| chr2:73483460
|
TTTTAC | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6173_7675-616 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483460 | ||||||
| chr2:73483471
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6163T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483471 | ||||||
| chr2:73483474
|
AG | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6158delG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73483474 | |||||
| chr2:73483479
|
A | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6155A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483479 | ||||||
| chr2:73483486
|
G | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6148G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483486 | ||||||
| chr2:73483491
|
A | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.7675-6143A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483491 | ||||||
| chr2:73483493
|
G | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6141G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483493 | ||||||
| chr2:73483496
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6138T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483496 | ||||||
| chr2:73483504
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6130A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483504 | ||||||
| chr2:73483519
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6115T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483519 | ||||||
| chr2:73483533
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6101A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483533 | ||||||
| chr2:73483544
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6090A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483544 | ||||||
| chr2:73483567
|
G | C | 1 | a0004c0003t0002g0091 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.7675-6067G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483567 | ||||||
| chr2:73483590
|
C | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6044C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483590 | ||||||
| chr2:73483591
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6043A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483591 | ||||||
| chr2:73483608
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6026G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483608 | ||||||
| chr2:73483613
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6021G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483613 | ||||||
| chr2:73483616
|
C | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6018C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483616 | ||||||
| chr2:73483632
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-6002G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483632 | ||||||
| chr2:73483689
|
G | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5945G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483689 | ||||||
| chr2:73483690
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5944A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483690 | ||||||
| chr2:73483694
|
A | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5940A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483694 | ||||||
| chr2:73483708
|
A | G | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.7675-5926A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483708 | ||||||
| chr2:73483728
|
C | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5906C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483728 | ||||||
| chr2:73483791
|
C | T | 11 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(8): Show | 11 | HG00735.hp1 HG00738.hp1 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.7675-5843C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483791 | ||||||
| chr2:73483847
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5787T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483847 | ||||||
| chr2:73483868
|
C | T | 4 | a0001c0001t0001g0219a0019c0018t0001g0056a0019c0018t0001g0057others(1): Show | 4 | HG00738.hp1 HG01261.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.7675-5766C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483868 | ||||||
| chr2:73483943
|
C | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5691C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483943 | ||||||
| chr2:73483944
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5690T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483944 | ||||||
| chr2:73483974
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5660T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483974 | ||||||
| chr2:73483975
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5659G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73483975 | ||||||
| chr2:73484010
|
G | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-5624G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484010 | ||||||
| chr2:73484040
|
T | G | 4 | a0004c0003t0002g0074a0004c0003t0002g0076a0004c0003t0002g0077others(1): Show | 4 | HG02602.hp1 HG02698.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.7675-5594T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484040 | ||||||
| chr2:73484043
|
C | T | 4 | a0004c0003t0002g0074a0004c0003t0002g0076a0004c0003t0002g0077others(1): Show | 4 | HG02602.hp1 HG02698.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.7675-5591C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484043 | ||||||
| chr2:73484072
|
T | C | 28 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(25): Show | 28 | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.7675-5562T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484072 | ||||||
| chr2:73484102
|
T | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5532T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484102 | ||||||
| chr2:73484105
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5529A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484105 | ||||||
| chr2:73484164
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5470A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484164 | ||||||
| chr2:73484166
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5468T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484166 | ||||||
| chr2:73484172
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5462T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484172 | ||||||
| chr2:73484173
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5461G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484173 | ||||||
| chr2:73484193
|
A | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5441A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484193 | ||||||
| chr2:73484202
|
C | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5432C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484202 | ||||||
| chr2:73484212
|
T | C | 4 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055others(1): Show | 4 | HG00738.hp1 HG01243.hp2 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.7675-5422T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484212 | ||||||
| chr2:73484213
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5421G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484213 | ||||||
| chr2:73484217
|
G | T | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.7675-5417G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484217 | ||||||
| chr2:73484235
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5399T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484235 | ||||||
| chr2:73484243
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7675-5391T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484243 | ||||||
| chr2:73484252
|
C | T | 1 | a0005c0005t0001g0106 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.7675-5382C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484252 | ||||||
| chr2:73484268
|
A | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7675-5366A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484268 | ||||||
| chr2:73484292
|
T | C | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7675-5342T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484292 | ||||||
| chr2:73484320
|
C | T | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.7675-5314C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484320 | ||||||
| chr2:73484343
|
G | C | 95 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(92): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.7675-5291G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484343 | ||||||
| chr2:73484395
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-5239A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484395 | ||||||
| chr2:73484431
|
G | C | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.7675-5203G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484431 | ||||||
| chr2:73484433
|
C | T | 10 | a0002c0004t0001g0239a0002c0004t0001g0247a0009c0013t0001g0240others(7): Show | 10 | HG01243.hp1 HG02647.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.7675-5201C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484433 | ||||||
| chr2:73484479
|
C | T | 3 | a0022c0028t0001g0009a0022c0028t0001g0010a0023c0027t0001g0007 | 3 | HG02056.hp1 NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.7675-5155C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484479 | ||||||
| chr2:73484648
|
T | C | 90 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(87): Show | 90 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.7675-4986T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484648 | ||||||
| chr2:73484695
|
A | G | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.7675-4939A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484695 | ||||||
| chr2:73484779
|
T | C | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.7675-4855T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484779 | ||||||
| chr2:73484784
|
T | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7675-4850T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484784 | ||||||
| chr2:73484822
|
A | T | 1 | a0014c0039t0001g0045 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.7675-4812A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484822 | ||||||
| chr2:73484827
|
T | A | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.7675-4807T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484827 | ||||||
| chr2:73484837
|
G | A | 87 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(84): Show | 87 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.7675-4797G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484837 | ||||||
| chr2:73484870
|
C | T | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7675-4764C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484870 | ||||||
| chr2:73484906
|
G | C | 6 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(3): Show | 6 | NA18944.hp2 NA18952.hp2 NA18966.hp2 others(3): Show |
intron_variant | MODIFIER | c.7675-4728G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73484906 | ||||||
| chr2:73485029
|
C | G | 1 | a0020c0019t0002g0090 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.7675-4605C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485029 | ||||||
| chr2:73485050
|
C | T | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.7675-4584C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485050 | ||||||
| chr2:73485185
|
T | G | 5 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.7675-4449T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485185 | ||||||
| chr2:73485470
|
C | G | 1 | a0007c0006t0001g0152 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.7675-4164C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485470 | ||||||
| chr2:73485515
|
C | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.7675-4119C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485515 | ||||||
| chr2:73485546
|
C | G | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.7675-4088C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485546 | ||||||
| chr2:73485555
|
T | G | 209 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
intron_variant | MODIFIER | c.7675-4079T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485555 | ||||||
| chr2:73485608
|
C | G | 1 | a0001c0001t0001g0165 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.7675-4026C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485608 | ||||||
| chr2:73485609
|
G | A | 1 | a0002c0052t0001g0040 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.7675-4025G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485609 | ||||||
| chr2:73485699
|
C | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.7675-3935C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485699 | ||||||
| chr2:73485730
|
C | T | 1 | a0002c0004t0001g0048 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7675-3904C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485730 | ||||||
| chr2:73485756
|
G | A | 1 | a0012c0012t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.7675-3878G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485756 | ||||||
| chr2:73485782
|
C | T | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.7675-3852C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485782 | ||||||
| chr2:73485815
|
C | T | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.7675-3819C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485815 | ||||||
| chr2:73485820
|
G | C | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.7675-3814G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485820 | ||||||
| chr2:73485824
|
G | A | 204 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(201): Show | 204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.7675-3810G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485824 | ||||||
| chr2:73485835
|
T | C | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.7675-3799T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485835 | ||||||
| chr2:73485835
|
T | G | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.7675-3799T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485835 | ||||||
| chr2:73485844
|
C | A | 2 | a0021c0029t0001g0119a0021c0029t0001g0121 | 2 | HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7675-3790C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485844 | ||||||
| chr2:73485896
|
C | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0146 | 2 | HG00735.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.7675-3738C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485896 | ||||||
| chr2:73485902
|
A | G | 105 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(102): Show | 105 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.7675-3732A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485902 | ||||||
| chr2:73485903
|
A | G | 105 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(102): Show | 105 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.7675-3731A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485903 | ||||||
| chr2:73485945
|
G | A | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.7675-3689G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485945 | ||||||
| chr2:73485946
|
C | CT | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-3688_7675-368 others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485946 | ||||||
| chr2:73485965
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.7675-3669C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485965 | ||||||
| chr2:73485986
|
T | G | 2 | a0008c0008t0001g0231a0008c0008t0001g0232 | 2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.7675-3648T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73485986 | ||||||
| chr2:73486053
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-3581G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486053 | ||||||
| chr2:73486162
|
A | T | 1 | a0004c0003t0002g0068 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.7675-3472A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486162 | ||||||
| chr2:73486320
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-3314C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486320 | ||||||
| chr2:73486373
|
T | C | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.7675-3261T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486373 | ||||||
| chr2:73486421
|
T | G | 9 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(6): Show | 9 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.7675-3213T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486421 | ||||||
| chr2:73486494
|
A | G | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.7675-3140A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486494 | ||||||
| chr2:73486614
|
T | G | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.7675-3020T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486614 | ||||||
| chr2:73486724
|
G | A | 1 | a0003c0002t0001g0015 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.7675-2910G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486724 | ||||||
| chr2:73486736
|
C | G | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.7675-2898C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486736 | ||||||
| chr2:73486913
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-2721G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486913 | ||||||
| chr2:73486970
|
G | A | 113 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
intron_variant | MODIFIER | c.7675-2664G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73486970 | ||||||
| chr2:73487125
|
G | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-2509G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487125 | ||||||
| chr2:73487157
|
A | G | 2 | a0006c0007t0001g0099a0006c0007t0001g0100 | 2 | HG01099.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7675-2477A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487157 | ||||||
| chr2:73487213
|
A | C | 1 | a0001c0001t0001g0165 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.7675-2421A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487213 | ||||||
| chr2:73487237
|
A | G | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.7675-2397A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487237 | ||||||
| chr2:73487318
|
C | G | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.7675-2316C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487318 | ||||||
| chr2:73487404
|
C | T | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.7675-2230C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487404 | ||||||
| chr2:73487429
|
A | G | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.7675-2205A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487429 | ||||||
| chr2:73487521
|
A | G | 205 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(202): Show | 205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.7675-2113A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487521 | ||||||
| chr2:73487546
|
C | T | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7675-2088C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487546 | ||||||
| chr2:73487547
|
G | A | 1 | a0001c0001t0001g0141 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.7675-2087G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487547 | ||||||
| chr2:73487739
|
C | T | 16 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(13): Show | 16 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.7675-1895C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487739 | ||||||
| chr2:73487806
|
T | C | 208 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(205): Show | 208 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
intron_variant | MODIFIER | c.7675-1828T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487806 | ||||||
| chr2:73487989
|
A | G | 42 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(39): Show | 42 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(39): Show |
intron_variant | MODIFIER | c.7675-1645A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487989 | ||||||
| chr2:73487992
|
G | A | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-1642G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73487992 | ||||||
| chr2:73488140
|
GTCTGCCA others(2): Show |
G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-1483_7675-147 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 73488140 | |||||
| chr2:73488172
|
G | A | 42 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(39): Show | 42 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(39): Show |
intron_variant | MODIFIER | c.7675-1462G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488172 | ||||||
| chr2:73488289
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.7675-1345C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488289 | ||||||
| chr2:73488346
|
C | T | 39 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(36): Show | 39 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(36): Show |
intron_variant | MODIFIER | c.7675-1288C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488346 | ||||||
| chr2:73488403
|
T | G | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7675-1231T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488403 | ||||||
| chr2:73488457
|
G | A | 17 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.7675-1177G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488457 | ||||||
| chr2:73488539
|
G | A | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.7675-1095G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488539 | ||||||
| chr2:73488610
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.7675-1024C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488610 | ||||||
| chr2:73488672
|
G | A | 5 | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0186others(2): Show | 5 | HG00738.hp2 HG01081.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.7675-962G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488672 | ||||||
| chr2:73488792
|
A | G | 1 | a0016c0016t0005g0222 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.7675-842A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73488792 | ||||||
| chr2:73489398
|
A | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.7675-236A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73489398 | ||||||
| chr2:73489490
|
C | G | 7 | a0003c0002t0001g0093a0010c0009t0001g0184a0010c0009t0001g0185others(4): Show | 7 | HG00621.hp2 HG01106.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.7675-144C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73489490 | ||||||
| chr2:73489497
|
C | T | 2 | a0009c0026t0001g0241a0009c0026t0001g0243 | 2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.7675-137C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73489497 | ||||||
| chr2:73489568
|
A | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-66A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73489568 | ||||||
| chr2:73489570
|
A | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.7675-64A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | 73489570 | ||||||
| chr2:73491612
|
GGTTGTGT others(684): Show |
G | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9539+115_9539+805d others(2): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73491612 | ||||||
| chr2:73491693
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9539+195A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73491693 | ||||||
| chr2:73491729
|
G | A | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.9539+231G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73491729 | ||||||
| chr2:73491849
|
C | A | 1 | a0048c0059t0001g0155 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.9539+351C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73491849 | ||||||
| chr2:73492114
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.9539+616C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492114 | ||||||
| chr2:73492115
|
G | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9539+617G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492115 | ||||||
| chr2:73492304
|
T | A | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9539+806T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492304 | ||||||
| chr2:73492313
|
T | A | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9539+815T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492313 | ||||||
| chr2:73492397
|
T | A | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.9539+899T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492397 | ||||||
| chr2:73492683
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+1185G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492683 | ||||||
| chr2:73492688
|
A | G | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9539+1190A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492688 | ||||||
| chr2:73492748
|
A | C | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.9539+1250A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492748 | ||||||
| chr2:73492882
|
C | T | 1 | a0001c0001t0001g0217 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.9539+1384C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73492882 | ||||||
| chr2:73492968
|
TA | T | 93 | a0001c0001t0001g0138a0002c0004t0001g0005a0002c0004t0001g0031others(90): Show | 93 | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.9539+1486delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73492968 | |||||
| chr2:73492968
|
TAA | T | 34 | a0002c0011t0001g0042a0002c0020t0001g0207a0002c0020t0001g0208others(31): Show | 34 | HG00323.hp1 HG00642.hp2 HG01099.hp2 others(31): Show |
intron_variant | MODIFIER | c.9539+1485_9539+148 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73492968 | |||||
| chr2:73493013
|
A | G | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.9539+1515A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493013 | ||||||
| chr2:73493131
|
C | A | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9539+1633C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493131 | ||||||
| chr2:73493210
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.9539+1712T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493210 | ||||||
| chr2:73493317
|
A | G | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.9539+1819A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493317 | ||||||
| chr2:73493339
|
G | T | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.9539+1841G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493339 | ||||||
| chr2:73493346
|
T | TAC | 14 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0134others(11): Show | 14 | HG00609.hp2 HG00621.hp1 HG01192.hp1 others(11): Show |
intron_variant | MODIFIER | c.9539+1878_9539+187 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73493346 | |||||
| chr2:73493346
|
TAC | T | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.9539+1878_9539+187 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73493346 | |||||
| chr2:73493346
|
TACAC | T | 27 | a0001c0001t0001g0130a0005c0005t0001g0106a0005c0005t0001g0107others(24): Show | 27 | HG00642.hp2 HG01099.hp2 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.9539+1876_9539+187 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73493346 | |||||
| chr2:73493450
|
C | T | 3 | a0002c0004t0001g0239a0002c0004t0001g0247a0032c0046t0001g0230 | 3 | HG01243.hp1 NA18522.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9539+1952C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493450 | ||||||
| chr2:73493714
|
C | G | 1 | a0001c0001t0001g0146 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.9539+2216C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493714 | ||||||
| chr2:73493771
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.9539+2273G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493771 | ||||||
| chr2:73493977
|
G | T | 1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.9539+2479G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73493977 | ||||||
| chr2:73494007
|
G | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9539+2509G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494007 | ||||||
| chr2:73494123
|
A | C | 58 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.9539+2625A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494123 | ||||||
| chr2:73494197
|
C | T | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.9539+2699C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494197 | ||||||
| chr2:73494321
|
T | C | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.9539+2823T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494321 | ||||||
| chr2:73494356
|
TACTGAAG | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+2859_9539+286 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494356 | ||||||
| chr2:73494521
|
C | T | 1 | a0003c0002t0001g0017 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.9539+3023C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494521 | ||||||
| chr2:73494579
|
C | CT | 5 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(2): Show | 5 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(2): Show |
intron_variant | MODIFIER | c.9539+3088dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73494579 | |||||
| chr2:73494640
|
C | T | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9539+3142C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494640 | ||||||
| chr2:73494731
|
T | C | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.9539+3233T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494731 | ||||||
| chr2:73494840
|
G | A | 1 | a0004c0003t0002g0068 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.9539+3342G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73494840 | ||||||
| chr2:73494975
|
AT | A | 25 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.9539+3480delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73494975 | |||||
| chr2:73495068
|
T | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9539+3570T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495068 | ||||||
| chr2:73495181
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+3683G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495181 | ||||||
| chr2:73495344
|
C | G | 2 | a0010c0009t0001g0185a0047c0061t0001g0183 | 2 | HG02257.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.9539+3846C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495344 | ||||||
| chr2:73495353
|
G | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9539+3855G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495353 | ||||||
| chr2:73495392
|
A | G | 246 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0124others(243): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.9539+3894A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495392 | ||||||
| chr2:73495438
|
G | T | 2 | a0002c0020t0001g0207a0002c0040t0001g0206 | 2 | HG02055.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.9539+3940G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495438 | ||||||
| chr2:73495697
|
T | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9539+4199T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495697 | ||||||
| chr2:73495798
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9539+4300C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495798 | ||||||
| chr2:73495981
|
G | A | 1 | a0008c0008t0001g0233 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.9539+4483G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73495981 | ||||||
| chr2:73496058
|
A | T | 96 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(93): Show | 96 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show |
intron_variant | MODIFIER | c.9539+4560A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496058 | ||||||
| chr2:73496306
|
C | T | 1 | a0002c0023t0001g0196 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.9539+4808C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496306 | ||||||
| chr2:73496388
|
T | C | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9539+4890T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496388 | ||||||
| chr2:73496416
|
G | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9539+4918G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496416 | ||||||
| chr2:73496521
|
A | G | 1 | a0011c0022t0001g0199 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.9539+5023A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496521 | ||||||
| chr2:73496527
|
A | C | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.9539+5029A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496527 | ||||||
| chr2:73496582
|
T | TAAGAAAG others(325): Show |
1 | a0002c0011t0001g0041 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.9539+5099_9539+510 others(336): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73496582 | |||||
| chr2:73496582
|
T | TAAGAAAG others(326): Show |
2 | a0002c0011t0001g0006a0002c0052t0001g0040 | 2 | HG00280.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.9539+5099_9539+510 others(337): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73496582 | |||||
| chr2:73496582
|
T | TAAGAAAG others(327): Show |
1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.9539+5099_9539+510 others(338): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73496582 | |||||
| chr2:73496656
|
A | G | 2 | a0003c0002t0001g0014a0003c0002t0001g0015 | 2 | NA18947.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.9539+5158A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496656 | ||||||
| chr2:73496832
|
A | G | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.9539+5334A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496832 | ||||||
| chr2:73496835
|
A | G | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.9539+5337A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496835 | ||||||
| chr2:73496986
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9539+5488C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73496986 | ||||||
| chr2:73497021
|
A | T | 1 | a0001c0001t0001g0212 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.9539+5523A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497021 | ||||||
| chr2:73497267
|
T | C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+5769T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497267 | ||||||
| chr2:73497271
|
G | T | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.9539+5773G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497271 | ||||||
| chr2:73497304
|
T | A | 1 | a0009c0026t0001g0243 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.9539+5806T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497304 | ||||||
| chr2:73497498
|
A | G | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.9539+6000A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497498 | ||||||
| chr2:73497548
|
T | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9539+6050T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497548 | ||||||
| chr2:73497552
|
A | T | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9539+6054A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497552 | ||||||
| chr2:73497586
|
C | T | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9539+6088C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497586 | ||||||
| chr2:73497589
|
T | C | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9539+6091T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497589 | ||||||
| chr2:73497894
|
C | A | 2 | a0001c0001t0001g0174a0015c0015t0001g0181 | 2 | HG00280.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.9539+6396C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497894 | ||||||
| chr2:73497938
|
A | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9539+6440A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73497938 | ||||||
| chr2:73498041
|
G | T | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9539+6543G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73498041 | ||||||
| chr2:73498443
|
T | G | 1 | a0001c0001t0001g0176 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.9539+6945T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73498443 | ||||||
| chr2:73498511
|
T | TTG | 75 | a0001c0001t0001g0124a0001c0001t0001g0143a0002c0004t0001g0005others(72): Show | 75 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(72): Show |
intron_variant | MODIFIER | c.9539+7032_9539+703 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73498511 | |||||
| chr2:73498517
|
G | A | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9539+7019G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73498517 | ||||||
| chr2:73498760
|
A | G | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.9539+7262A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73498760 | ||||||
| chr2:73498789
|
G | T | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.9539+7291G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73498789 | ||||||
| chr2:73499314
|
T | C | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.9539+7816T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499314 | ||||||
| chr2:73499449
|
C | T | 7 | a0006c0007t0001g0228a0006c0007t0001g0229a0006c0010t0001g0096others(4): Show | 7 | HG01884.hp2 HG01891.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.9539+7951C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499449 | ||||||
| chr2:73499478
|
A | G | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.9539+7980A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499478 | ||||||
| chr2:73499482
|
G | T | 1 | a0004c0003t0002g0068 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.9539+7984G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499482 | ||||||
| chr2:73499535
|
G | A | 58 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.9539+8037G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499535 | ||||||
| chr2:73499543
|
T | C | 1 | a0006c0007t0001g0098 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.9539+8045T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499543 | ||||||
| chr2:73499574
|
G | A | 5 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(2): Show | 5 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(2): Show |
intron_variant | MODIFIER | c.9539+8076G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499574 | ||||||
| chr2:73499775
|
A | G | 26 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(23): Show | 26 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(23): Show |
intron_variant | MODIFIER | c.9539+8277A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73499775 | ||||||
| chr2:73500133
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.9539+8635G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73500133 | ||||||
| chr2:73500223
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+8725C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73500223 | ||||||
| chr2:73500508
|
T | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+9010T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73500508 | ||||||
| chr2:73500523
|
C | T | 1 | a0051c0068t0001g0128 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.9539+9025C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73500523 | ||||||
| chr2:73500746
|
CAG | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+9251_9539+925 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73500746 | |||||
| chr2:73500906
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+9408C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73500906 | ||||||
| chr2:73501357
|
T | C | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.9539+9859T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73501357 | ||||||
| chr2:73501424
|
G | C | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9539+9926G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73501424 | ||||||
| chr2:73501482
|
C | A | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9539+9984C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73501482 | ||||||
| chr2:73502515
|
T | C | 8 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(5): Show | 8 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+11017T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73502515 | ||||||
| chr2:73502883
|
A | G | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.9539+11385A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73502883 | ||||||
| chr2:73502928
|
C | G | 1 | a0005c0005t0001g0109 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.9539+11430C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73502928 | ||||||
| chr2:73502947
|
A | G | 1 | a0010c0009t0001g0185 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.9539+11449A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73502947 | ||||||
| chr2:73502971
|
C | T | 5 | a0011c0022t0001g0199a0011c0022t0001g0200a0011c0024t0001g0194others(2): Show | 5 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.9539+11473C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73502971 | ||||||
| chr2:73503000
|
G | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+11502G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503000 | ||||||
| chr2:73503029
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+11531A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503029 | ||||||
| chr2:73503047
|
A | G | 97 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(94): Show | 97 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.9539+11549A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503047 | ||||||
| chr2:73503091
|
T | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+11593T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503091 | ||||||
| chr2:73503133
|
A | T | 39 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(36): Show | 39 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(36): Show |
intron_variant | MODIFIER | c.9539+11635A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503133 | ||||||
| chr2:73503257
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+11759C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503257 | ||||||
| chr2:73503319
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9539+11821A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503319 | ||||||
| chr2:73503403
|
C | T | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.9539+11905C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503403 | ||||||
| chr2:73503615
|
G | A | 3 | a0003c0002t0001g0013a0003c0002t0001g0014a0003c0002t0001g0015 | 3 | HG02071.hp2 NA18947.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.9539+12117G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503615 | ||||||
| chr2:73503816
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+12318G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73503816 | ||||||
| chr2:73504233
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9539+12735C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504233 | ||||||
| chr2:73504290
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+12792G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504290 | ||||||
| chr2:73504344
|
C | G | 29 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(26): Show | 29 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.9539+12846C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504344 | ||||||
| chr2:73504351
|
C | T | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.9539+12853C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504351 | ||||||
| chr2:73504497
|
T | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.9539+12999T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504497 | ||||||
| chr2:73504527
|
A | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9539+13029A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504527 | ||||||
| chr2:73504652
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9539+13154A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504652 | ||||||
| chr2:73504736
|
C | CT | 15 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(12): Show | 15 | HG01361.hp1 HG02602.hp2 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.9539+13248dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73504736 | |||||
| chr2:73504838
|
G | A | 4 | a0001c0001t0001g0126a0001c0001t0001g0212a0007c0006t0001g0131others(1): Show | 4 | HG02056.hp2 NA18941.hp1 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+13340G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504838 | ||||||
| chr2:73504840
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+13342C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504840 | ||||||
| chr2:73504854
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9539+13356A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504854 | ||||||
| chr2:73504873
|
C | A | 1 | a0006c0007t0001g0102 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.9539+13375C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504873 | ||||||
| chr2:73504969
|
G | C | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.9539+13471G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504969 | ||||||
| chr2:73504998
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9539+13500T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73504998 | ||||||
| chr2:73505083
|
A | G | 2 | a0022c0028t0001g0009a0022c0028t0001g0010 | 2 | NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.9539+13585A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505083 | ||||||
| chr2:73505291
|
C | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9539+13793C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505291 | ||||||
| chr2:73505296
|
C | T | 1 | a0002c0004t0001g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.9539+13798C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505296 | ||||||
| chr2:73505320
|
T | C | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9539+13822T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505320 | ||||||
| chr2:73505322
|
A | G | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9539+13824A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505322 | ||||||
| chr2:73505546
|
C | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.9539+14048C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505546 | ||||||
| chr2:73505918
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-13857G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505918 | ||||||
| chr2:73505944
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9540-13831A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73505944 | ||||||
| chr2:73506099
|
G | A | 7 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(4): Show | 7 | HG03017.hp1 NA18941.hp2 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.9540-13676G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506099 | ||||||
| chr2:73506186
|
C | T | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.9540-13589C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506186 | ||||||
| chr2:73506245
|
T | G | 8 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(5): Show | 8 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.9540-13530T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506245 | ||||||
| chr2:73506300
|
A | T | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | NA18944.hp2 NA18952.hp2 NA18966.hp2 others(2): Show |
intron_variant | MODIFIER | c.9540-13475A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506300 | ||||||
| chr2:73506408
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9540-13367C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506408 | ||||||
| chr2:73506534
|
A | G | 1 | a0013c0014t0001g0180 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.9540-13241A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506534 | ||||||
| chr2:73506546
|
G | A | 5 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(2): Show | 5 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(2): Show |
intron_variant | MODIFIER | c.9540-13229G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506546 | ||||||
| chr2:73506585
|
A | G | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9540-13190A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506585 | ||||||
| chr2:73506655
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.9540-13120C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506655 | ||||||
| chr2:73506740
|
C | T | 69 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(66): Show | 69 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.9540-13035C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506740 | ||||||
| chr2:73506748
|
C | T | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9540-13027C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506748 | ||||||
| chr2:73506832
|
G | A | 15 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(12): Show | 15 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.9540-12943G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506832 | ||||||
| chr2:73506849
|
T | C | 1 | a0001c0001t0001g0125 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.9540-12926T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506849 | ||||||
| chr2:73506857
|
G | T | 29 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(26): Show | 29 | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(26): Show |
intron_variant | MODIFIER | c.9540-12918G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506857 | ||||||
| chr2:73506869
|
A | T | 1 | a0005c0005t0001g0109 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.9540-12906A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506869 | ||||||
| chr2:73506989
|
G | C | 5 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.9540-12786G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73506989 | ||||||
| chr2:73507003
|
A | T | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.9540-12772A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73507003 | ||||||
| chr2:73507006
|
G | A | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.9540-12769G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73507006 | ||||||
| chr2:73507988
|
A | G | 1 | a0003c0002t0001g0008 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.9540-11787A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73507988 | ||||||
| chr2:73508015
|
T | C | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.9540-11760T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508015 | ||||||
| chr2:73508082
|
C | T | 3 | a0015c0015t0001g0190a0017c0017t0003g0224a0017c0017t0003g0225 | 3 | HG02055.hp2 HG02602.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9540-11693C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508082 | ||||||
| chr2:73508091
|
GTTTTCTT others(5): Show |
G | 1 | a0001c0001t0001g0175 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.9540-11661_9540-11 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508091 | |||||
| chr2:73508129
|
T | TCCTTTC | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9540-11632_9540-11 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508129 | |||||
| chr2:73508141
|
C | CCCTTT | 3 | a0001c0001t0001g0130a0007c0006t0001g0152a0013c0014t0001g0164 | 3 | HG01167.hp2 HG01433.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.9540-11612_9540-11 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508141 | |||||
| chr2:73508141
|
CCCTTT | C | 18 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(15): Show | 18 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
intron_variant | MODIFIER | c.9540-11612_9540-11 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508141 | |||||
| chr2:73508141
|
CCCTTTCC others(3): Show |
C | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.9540-11617_9540-11 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508141 | |||||
| chr2:73508207
|
C | CT | 73 | a0001c0001t0001g0002a0002c0004t0001g0031a0002c0004t0001g0033others(70): Show | 73 | HG01069.hp2 HG01070.hp2 HG01109.hp1 others(70): Show |
intron_variant | MODIFIER | c.9540-11551dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508207 | |||||
| chr2:73508207
|
C | CTT | 11 | a0002c0004t0001g0005a0002c0023t0001g0195a0002c0023t0001g0196others(8): Show | 11 | HG02486.hp2 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.9540-11552_9540-11 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508207 | |||||
| chr2:73508207
|
CT | C | 37 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(34): Show | 37 | HG00621.hp2 HG01106.hp2 HG02071.hp2 others(34): Show |
intron_variant | MODIFIER | c.9540-11551delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73508207 | |||||
| chr2:73508224
|
T | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9540-11551T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508224 | ||||||
| chr2:73508235
|
C | G | 1 | a0006c0007t0001g0098 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.9540-11540C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508235 | ||||||
| chr2:73508291
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9540-11484C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508291 | ||||||
| chr2:73508443
|
G | C | 1 | a0010c0009t0001g0184 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.9540-11332G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508443 | ||||||
| chr2:73508446
|
C | A | 1 | a0004c0003t0002g0088 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.9540-11329C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508446 | ||||||
| chr2:73508471
|
C | T | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.9540-11304C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508471 | ||||||
| chr2:73508547
|
A | G | 166 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(163): Show | 166 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.9540-11228A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508547 | ||||||
| chr2:73508699
|
T | C | 1 | a0001c0001t0001g0002 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.9540-11076T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508699 | ||||||
| chr2:73508790
|
C | T | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9540-10985C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508790 | ||||||
| chr2:73508793
|
G | A | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.9540-10982G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508793 | ||||||
| chr2:73508815
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-10960A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508815 | ||||||
| chr2:73508856
|
A | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.9540-10919A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73508856 | ||||||
| chr2:73509150
|
A | G | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.9540-10625A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509150 | ||||||
| chr2:73509235
|
T | C | 1 | a0011c0024t0001g0198 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.9540-10540T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509235 | ||||||
| chr2:73509480
|
C | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9540-10295C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509480 | ||||||
| chr2:73509734
|
G | A | 2 | a0006c0007t0001g0228a0006c0007t0001g0229 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.9540-10041G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509734 | ||||||
| chr2:73509806
|
G | T | 2 | a0003c0002t0001g0093a0010c0009t0001g0187 | 2 | HG00621.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.9540-9969G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509806 | ||||||
| chr2:73509830
|
C | G | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.9540-9945C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73509830 | ||||||
| chr2:73510077
|
A | T | 96 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(93): Show | 96 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show |
intron_variant | MODIFIER | c.9540-9698A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510077 | ||||||
| chr2:73510111
|
A | G | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.9540-9664A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510111 | ||||||
| chr2:73510122
|
C | G | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.9540-9653C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510122 | ||||||
| chr2:73510181
|
G | A | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.9540-9594G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510181 | ||||||
| chr2:73510221
|
A | C | 1 | a0003c0002t0001g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.9540-9554A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510221 | ||||||
| chr2:73510276
|
T | C | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.9540-9499T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510276 | ||||||
| chr2:73510281
|
G | A | 1 | a0030c0038t0001g0055 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.9540-9494G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510281 | ||||||
| chr2:73510405
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.9540-9370G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510405 | ||||||
| chr2:73510654
|
C | T | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.9540-9121C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510654 | ||||||
| chr2:73510912
|
C | T | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.9540-8863C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510912 | ||||||
| chr2:73510940
|
C | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9540-8835C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510940 | ||||||
| chr2:73510970
|
G | A | 2 | a0003c0002t0001g0008a0003c0002t0001g0058 | 2 | NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.9540-8805G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73510970 | ||||||
| chr2:73511129
|
G | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9540-8646G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511129 | ||||||
| chr2:73511223
|
C | T | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9540-8552C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511223 | ||||||
| chr2:73511270
|
C | T | 1 | a0004c0003t0002g0078 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.9540-8505C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511270 | ||||||
| chr2:73511420
|
G | A | 1 | a0015c0015t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.9540-8355G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511420 | ||||||
| chr2:73511459
|
AC | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-8311delC | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73511459 | |||||
| chr2:73511527
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.9540-8248A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511527 | ||||||
| chr2:73511540
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-8235G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511540 | ||||||
| chr2:73511557
|
C | T | 4 | a0003c0002t0001g0018a0003c0002t0001g0029a0003c0002t0001g0030others(1): Show | 4 | NA18944.hp1 NA18956.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.9540-8218C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511557 | ||||||
| chr2:73511658
|
A | G | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-8117A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511658 | ||||||
| chr2:73511677
|
A | G | 76 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(73): Show | 76 | HG01069.hp2 HG01070.hp2 HG01109.hp1 others(73): Show |
intron_variant | MODIFIER | c.9540-8098A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511677 | ||||||
| chr2:73511688
|
T | C | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.9540-8087T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511688 | ||||||
| chr2:73511704
|
T | A | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.9540-8071T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511704 | ||||||
| chr2:73511869
|
T | C | 2 | a0001c0001t0001g0178a0055c0072t0001g0177 | 2 | NA18950.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.9540-7906T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73511869 | ||||||
| chr2:73512008
|
A | G | 1 | a0003c0002t0001g0017 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.9540-7767A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512008 | ||||||
| chr2:73512241
|
C | T | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.9540-7534C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512241 | ||||||
| chr2:73512293
|
G | C | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.9540-7482G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512293 | ||||||
| chr2:73512391
|
A | AT | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9540-7370dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73512391 | |||||
| chr2:73512391
|
AT | A | 25 | a0001c0001t0001g0146a0001c0001t0001g0150a0004c0003t0002g0064others(22): Show | 25 | HG00642.hp2 HG01069.hp2 HG01070.hp2 others(22): Show |
intron_variant | MODIFIER | c.9540-7370delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73512391 | |||||
| chr2:73512472
|
A | G | 1 | a0003c0002t0001g0029 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.9540-7303A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512472 | ||||||
| chr2:73512585
|
A | G | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.9540-7190A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512585 | ||||||
| chr2:73512657
|
C | T | 1 | a0015c0015t0001g0181 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.9540-7118C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512657 | ||||||
| chr2:73512721
|
G | T | 1 | a0052c0071t0001g0140 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.9540-7054G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73512721 | ||||||
| chr2:73513188
|
C | T | 1 | a0007c0006t0001g0142 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.9540-6587C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513188 | ||||||
| chr2:73513240
|
G | C | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.9540-6535G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513240 | ||||||
| chr2:73513298
|
G | A | 191 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(188): Show | 191 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.9540-6477G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513298 | ||||||
| chr2:73513523
|
C | T | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.9540-6252C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513523 | ||||||
| chr2:73513564
|
G | A | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-6211G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513564 | ||||||
| chr2:73513878
|
C | A | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.9540-5897C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513878 | ||||||
| chr2:73513899
|
T | G | 12 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(9): Show | 12 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.9540-5876T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513899 | ||||||
| chr2:73513911
|
G | A | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.9540-5864G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73513911 | ||||||
| chr2:73514115
|
A | G | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9540-5660A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73514115 | ||||||
| chr2:73514370
|
G | T | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9540-5405G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73514370 | ||||||
| chr2:73514413
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-5362G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73514413 | ||||||
| chr2:73514831
|
C | A | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-4944C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73514831 | ||||||
| chr2:73514975
|
A | G | 1 | a0003c0002t0001g0008 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.9540-4800A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73514975 | ||||||
| chr2:73515351
|
G | C | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9540-4424G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515351 | ||||||
| chr2:73515601
|
A | G | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.9540-4174A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515601 | ||||||
| chr2:73515612
|
G | C | 1 | a0001c0001t0001g0125 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.9540-4163G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515612 | ||||||
| chr2:73515768
|
T | TAC | 21 | a0001c0001t0001g0134a0002c0004t0001g0239a0002c0011t0001g0004others(18): Show | 21 | HG00099.hp2 HG00323.hp1 HG00621.hp1 others(18): Show |
intron_variant | MODIFIER | c.9540-3971_9540-397 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACAC | 15 | a0001c0001t0001g0151a0002c0004t0001g0005a0002c0004t0001g0031others(12): Show | 15 | HG01884.hp1 HG01981.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.9540-3973_9540-397 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACACAC | 53 | a0002c0004t0001g0033a0002c0004t0001g0034a0002c0004t0001g0035others(50): Show | 53 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(50): Show |
intron_variant | MODIFIER | c.9540-3975_9540-397 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACACACA others(1): Show |
19 | a0003c0002t0001g0013a0003c0002t0001g0017a0003c0002t0001g0028others(16): Show | 19 | HG00621.hp2 HG00735.hp1 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.9540-3977_9540-397 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACACACA others(3): Show |
6 | a0008c0008t0001g0234a0010c0009t0001g0168a0010c0009t0001g0184others(3): Show | 6 | HG02572.hp1 HG02615.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-3979_9540-397 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACACACA others(5): Show |
3 | a0002c0054t0001g0193a0010c0009t0001g0169a0047c0061t0001g0183 | 3 | HG01192.hp1 HG02257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.9540-3981_9540-397 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
T | TACACACA others(9): Show |
1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.9540-3985_9540-397 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TAC | T | 12 | a0001c0001t0001g0153a0001c0001t0001g0160a0004c0003t0002g0091others(9): Show | 12 | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9540-3971_9540-397 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACAC | T | 22 | a0001c0001t0001g0182a0005c0005t0001g0106a0005c0005t0001g0107others(19): Show | 22 | HG00642.hp1 HG00642.hp2 HG01433.hp2 others(19): Show |
intron_variant | MODIFIER | c.9540-3973_9540-397 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACACAC | T | 33 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(30): Show | 33 | HG00609.hp2 HG01099.hp2 HG01169.hp2 others(30): Show |
intron_variant | MODIFIER | c.9540-3975_9540-397 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACACACA others(1): Show |
T | 3 | a0002c0004t0001g0051a0002c0004t0001g0052a0024c0030t0001g0227 | 3 | HG01109.hp1 NA18522.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9540-3977_9540-397 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACACACA others(3): Show |
T | 3 | a0001c0001t0001g0149a0001c0001t0001g0171a0007c0006t0001g0173 | 3 | HG00323.hp2 HG01257.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.9540-3979_9540-397 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACACACA others(7): Show |
T | 1 | a0001c0001t0001g0175 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.9540-3983_9540-397 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515768
|
TACACACA others(9): Show |
T | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9540-3985_9540-397 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73515768 | |||||
| chr2:73515805
|
A | ACACACAC others(2): Show |
3 | a0004c0003t0002g0076a0010c0009t0001g0187a0035c0050t0001g0246 | 3 | HG02622.hp2 HG04204.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.9540-3970_9540-396 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515805 | ||||||
| chr2:73515834
|
C | A | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9540-3941C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515834 | ||||||
| chr2:73515883
|
T | C | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.9540-3892T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73515883 | ||||||
| chr2:73516475
|
C | T | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.9540-3300C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516475 | ||||||
| chr2:73516588
|
C | T | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.9540-3187C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516588 | ||||||
| chr2:73516599
|
A | C | 7 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(4): Show | 7 | HG02055.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.9540-3176A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516599 | ||||||
| chr2:73516621
|
G | C | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.9540-3154G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516621 | ||||||
| chr2:73516641
|
T | C | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9540-3134T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516641 | ||||||
| chr2:73516855
|
A | G | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.9540-2920A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73516855 | ||||||
| chr2:73517175
|
C | A | 1 | a0001c0001t0001g0151 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.9540-2600C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517175 | ||||||
| chr2:73517246
|
C | CTTTTTTT others(4): Show |
10 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(7): Show | 10 | HG00621.hp2 HG01106.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.9540-2522_9540-251 others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(5): Show |
33 | a0002c0004t0001g0031a0003c0002t0001g0008a0003c0002t0001g0011others(30): Show | 33 | HG01167.hp1 HG01169.hp1 HG01192.hp1 others(30): Show |
intron_variant | MODIFIER | c.9540-2523_9540-251 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(6): Show |
45 | a0002c0004t0001g0033a0002c0004t0001g0051a0002c0004t0001g0052others(42): Show | 45 | HG00280.hp2 HG00323.hp1 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.9540-2524_9540-251 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(7): Show |
36 | a0002c0004t0001g0034a0002c0004t0001g0035a0002c0004t0001g0036others(33): Show | 36 | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(33): Show |
intron_variant | MODIFIER | c.9540-2525_9540-251 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(8): Show |
26 | a0002c0004t0001g0005a0002c0004t0001g0038a0004c0003t0002g0068others(23): Show | 26 | HG00642.hp2 HG01175.hp1 HG01261.hp2 others(23): Show |
intron_variant | MODIFIER | c.9540-2526_9540-251 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(9): Show |
3 | a0005c0005t0001g0107a0005c0005t0001g0114a0012c0012t0001g0204 | 3 | HG01433.hp2 HG01928.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.9540-2527_9540-251 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517246
|
C | CTTTTTTT others(10): Show |
1 | a0012c0012t0001g0202 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.9540-2528_9540-251 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73517246 | |||||
| chr2:73517394
|
T | C | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-2381T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517394 | ||||||
| chr2:73517415
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-2360A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517415 | ||||||
| chr2:73517482
|
A | C | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.9540-2293A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517482 | ||||||
| chr2:73517718
|
C | T | 1 | a0013c0014t0001g0180 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.9540-2057C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517718 | ||||||
| chr2:73517719
|
G | A | 2 | a0002c0011t0001g0006a0002c0011t0001g0042 | 2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.9540-2056G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517719 | ||||||
| chr2:73517748
|
G | C | 192 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(189): Show | 192 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.9540-2027G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517748 | ||||||
| chr2:73517918
|
A | G | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.9540-1857A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517918 | ||||||
| chr2:73517995
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9540-1780A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73517995 | ||||||
| chr2:73518013
|
T | C | 1 | a0001c0001t0001g0213 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.9540-1762T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518013 | ||||||
| chr2:73518087
|
G | GT | 16 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(13): Show | 16 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.9540-1674dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73518087 | |||||
| chr2:73518201
|
A | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9540-1574A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518201 | ||||||
| chr2:73518392
|
G | A | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.9540-1383G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518392 | ||||||
| chr2:73518424
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9540-1351C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518424 | ||||||
| chr2:73518632
|
ATTTTGAC others(1): Show |
A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9540-1138_9540-113 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 73518632 | |||||
| chr2:73518781
|
G | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9540-994G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518781 | ||||||
| chr2:73518862
|
T | A | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.9540-913T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73518862 | ||||||
| chr2:73519041
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.9540-734C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519041 | ||||||
| chr2:73519069
|
T | A | 1 | a0050c0067t0001g0223 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.9540-706T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519069 | ||||||
| chr2:73519375
|
A | G | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9540-400A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519375 | ||||||
| chr2:73519470
|
C | G | 2 | a0002c0004t0001g0247a0032c0046t0001g0230 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.9540-305C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519470 | ||||||
| chr2:73519516
|
T | C | 101 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(98): Show | 101 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.9540-259T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519516 | ||||||
| chr2:73519541
|
A | T | 2 | a0002c0004t0001g0247a0032c0046t0001g0230 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.9540-234A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519541 | ||||||
| chr2:73519676
|
T | C | 1 | a0001c0001t0001g0132 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.9540-99T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | 73519676 | ||||||
| chr2:73520057
|
C | T | 1 | a0032c0046t0001g0230 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.9781+41C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73520057 | ||||||
| chr2:73520441
|
CAT | C | 3 | a0004c0003t0002g0074a0004c0003t0002g0077a0004c0003t0002g0078 | 3 | HG02602.hp1 HG02698.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.9781+426_9781+427d others(4): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73520441 | ||||||
| chr2:73520593
|
C | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+577C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73520593 | ||||||
| chr2:73520805
|
G | A | 122 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(119): Show | 122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.9781+789G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73520805 | ||||||
| chr2:73520860
|
C | G | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9781+844C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73520860 | ||||||
| chr2:73521153
|
A | G | 1 | a0005c0005t0001g0109 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.9781+1137A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521153 | ||||||
| chr2:73521174
|
C | T | 5 | a0011c0022t0001g0199a0011c0022t0001g0200a0011c0024t0001g0194others(2): Show | 5 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.9781+1158C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521174 | ||||||
| chr2:73521344
|
G | T | 3 | a0005c0005t0001g0108a0005c0005t0001g0112a0005c0005t0001g0113 | 3 | NA18966.hp1 NA19079.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.9781+1328G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521344 | ||||||
| chr2:73521580
|
C | CA | 8 | a0001c0001t0001g0095a0001c0001t0001g0134a0001c0001t0001g0192others(5): Show | 8 | HG00621.hp1 HG01257.hp2 HG01993.hp2 others(5): Show |
intron_variant | MODIFIER | c.9781+1585dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73521580 | |||||
| chr2:73521580
|
CA | C | 47 | a0002c0004t0001g0005a0002c0004t0001g0046a0002c0004t0001g0052others(44): Show | 47 | HG00621.hp2 HG01106.hp2 HG01109.hp1 others(44): Show |
intron_variant | MODIFIER | c.9781+1585delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73521580 | |||||
| chr2:73521580
|
CAA | C | 108 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0034others(105): Show | 108 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.9781+1584_9781+158 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73521580 | |||||
| chr2:73521580
|
CAAA | C | 5 | a0005c0058t0001g0110a0006c0010t0001g0104a0017c0017t0003g0224others(2): Show | 5 | HG01243.hp1 HG01943.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.9781+1583_9781+158 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73521580 | |||||
| chr2:73521639
|
A | G | 1 | a0013c0014t0001g0164 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.9781+1623A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521639 | ||||||
| chr2:73521718
|
C | G | 30 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(27): Show | 30 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.9781+1702C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521718 | ||||||
| chr2:73521796
|
G | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9781+1780G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521796 | ||||||
| chr2:73521853
|
G | A | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.9781+1837G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521853 | ||||||
| chr2:73521927
|
T | G | 121 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(118): Show | 121 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.9781+1911T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73521927 | ||||||
| chr2:73522042
|
C | CT | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.9781+2032dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73522042 | |||||
| chr2:73522089
|
C | T | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.9781+2073C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522089 | ||||||
| chr2:73522224
|
A | T | 1 | a0007c0006t0001g0211 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.9781+2208A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522224 | ||||||
| chr2:73522264
|
G | A | 3 | a0001c0001t0001g0178a0001c0001t0001g0179a0055c0072t0001g0177 | 3 | HG02293.hp2 NA18950.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.9781+2248G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522264 | ||||||
| chr2:73522334
|
T | C | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.9781+2318T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522334 | ||||||
| chr2:73522467
|
C | CT | 9 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(6): Show | 9 | HG00609.hp2 HG03669.hp1 NA18941.hp1 others(6): Show |
intron_variant | MODIFIER | c.9781+2472dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73522467 | |||||
| chr2:73522467
|
CT | C | 29 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061others(26): Show | 29 | HG00642.hp2 HG00735.hp1 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.9781+2472delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73522467 | |||||
| chr2:73522467
|
CTT | C | 121 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(118): Show | 121 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.9781+2471_9781+247 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73522467 | |||||
| chr2:73522467
|
CTTT | C | 5 | a0009c0013t0001g0240a0021c0029t0001g0119a0021c0029t0001g0121others(2): Show | 5 | HG02886.hp2 NA19043.hp1 NA19043.hp2 others(2): Show |
intron_variant | MODIFIER | c.9781+2470_9781+247 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73522467 | |||||
| chr2:73522595
|
A | G | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.9781+2579A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522595 | ||||||
| chr2:73522614
|
G | A | 1 | a0001c0001t0001g0132 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.9781+2598G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522614 | ||||||
| chr2:73522759
|
G | A | 3 | a0008c0008t0001g0235a0008c0008t0001g0237a0027c0032t0001g0236 | 3 | HG00735.hp1 HG02965.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.9781+2743G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73522759 | ||||||
| chr2:73523092
|
T | G | 3 | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196 | 3 | HG02970.hp1 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9781+3076T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523092 | ||||||
| chr2:73523268
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+3252T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523268 | ||||||
| chr2:73523298
|
G | A | 1 | a0002c0011t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.9781+3282G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523298 | ||||||
| chr2:73523672
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+3656C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523672 | ||||||
| chr2:73523673
|
A | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+3657A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523673 | ||||||
| chr2:73523722
|
G | A | 1 | a0047c0061t0001g0183 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.9781+3706G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73523722 | ||||||
| chr2:73524343
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9781+4327G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524343 | ||||||
| chr2:73524645
|
G | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9781+4629G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524645 | ||||||
| chr2:73524700
|
G | A | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.9781+4684G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524700 | ||||||
| chr2:73524743
|
T | C | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9781+4727T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524743 | ||||||
| chr2:73524839
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.9781+4823G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524839 | ||||||
| chr2:73524874
|
C | T | 1 | a0007c0006t0001g0166 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.9781+4858C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73524874 | ||||||
| chr2:73525241
|
G | A | 73 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(70): Show | 73 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.9781+5225G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525241 | ||||||
| chr2:73525482
|
G | T | 1 | a0002c0023t0001g0195 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.9781+5466G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525482 | ||||||
| chr2:73525499
|
G | A | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.9781+5483G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525499 | ||||||
| chr2:73525607
|
C | T | 2 | a0002c0004t0001g0005a0002c0004t0001g0035 | 2 | HG02486.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.9781+5591C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525607 | ||||||
| chr2:73525698
|
T | C | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9781+5682T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525698 | ||||||
| chr2:73525720
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.9781+5704A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525720 | ||||||
| chr2:73525724
|
G | T | 24 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(21): Show | 24 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.9781+5708G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73525724 | ||||||
| chr2:73526060
|
C | T | 98 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(95): Show | 98 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.9781+6044C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526060 | ||||||
| chr2:73526165
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.9781+6149G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526165 | ||||||
| chr2:73526235
|
T | A | 1 | a0001c0001t0001g0141 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.9781+6219T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526235 | ||||||
| chr2:73526589
|
T | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.9781+6573T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526589 | ||||||
| chr2:73526594
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+6578G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526594 | ||||||
| chr2:73526621
|
T | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+6605T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526621 | ||||||
| chr2:73526642
|
T | G | 1 | a0008c0008t0001g0233 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.9781+6626T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526642 | ||||||
| chr2:73526744
|
A | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9781+6728A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526744 | ||||||
| chr2:73526747
|
T | G | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.9781+6731T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526747 | ||||||
| chr2:73526779
|
T | C | 3 | a0014c0021t0001g0043a0014c0021t0001g0044a0014c0039t0001g0045 | 3 | HG02559.hp2 HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.9781+6763T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73526779 | ||||||
| chr2:73527068
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9781+7052C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73527068 | ||||||
| chr2:73527182
|
T | G | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.9781+7166T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73527182 | ||||||
| chr2:73527244
|
C | CT | 9 | a0002c0041t0001g0094a0003c0002t0001g0011a0003c0002t0001g0012others(6): Show | 9 | HG00280.hp1 HG02602.hp2 HG03017.hp1 others(6): Show |
intron_variant | MODIFIER | c.9781+7240dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73527244 | |||||
| chr2:73527378
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.9781+7362C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73527378 | ||||||
| chr2:73527495
|
G | A | 1 | a0033c0055t0001g0201 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.9782-7329G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73527495 | ||||||
| chr2:73527729
|
T | C | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.9782-7095T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73527729 | ||||||
| chr2:73528247
|
T | C | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.9782-6577T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73528247 | ||||||
| chr2:73528422
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9782-6402A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73528422 | ||||||
| chr2:73528673
|
ATT | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9782-6150_9782-614 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73528673 | ||||||
| chr2:73528777
|
G | A | 2 | a0022c0028t0001g0009a0022c0028t0001g0010 | 2 | NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.9782-6047G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73528777 | ||||||
| chr2:73528838
|
A | G | 1 | a0003c0002t0001g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.9782-5986A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73528838 | ||||||
| chr2:73529039
|
G | GT | 62 | a0001c0001t0001g0134a0001c0001t0001g0143a0001c0001t0001g0174others(59): Show | 62 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(59): Show |
intron_variant | MODIFIER | c.9782-5763dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73529039 | |||||
| chr2:73529039
|
GT | G | 14 | a0001c0001t0001g0141a0001c0001t0001g0165a0001c0001t0001g0171others(11): Show | 14 | HG00323.hp2 HG00738.hp2 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.9782-5763delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73529039 | |||||
| chr2:73529039
|
GTT | G | 19 | a0002c0054t0001g0193a0006c0007t0001g0098a0006c0007t0001g0099others(16): Show | 19 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.9782-5764_9782-576 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73529039 | |||||
| chr2:73529450
|
T | C | 2 | a0003c0002t0001g0012a0003c0002t0001g0017 | 2 | NA18962.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.9782-5374T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73529450 | ||||||
| chr2:73529523
|
A | G | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.9782-5301A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73529523 | ||||||
| chr2:73529594
|
T | C | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.9782-5230T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73529594 | ||||||
| chr2:73529690
|
G | T | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.9782-5134G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73529690 | ||||||
| chr2:73529827
|
A | C | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.9782-4997A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73529827 | ||||||
| chr2:73530121
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9782-4703C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73530121 | ||||||
| chr2:73530736
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9782-4088C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73530736 | ||||||
| chr2:73530987
|
TC | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9782-3835delC | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 73530987 | |||||
| chr2:73531022
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9782-3802C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531022 | ||||||
| chr2:73531364
|
T | C | 1 | a0006c0010t0001g0096 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.9782-3460T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531364 | ||||||
| chr2:73531448
|
C | T | 1 | a0002c0052t0001g0040 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.9782-3376C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531448 | ||||||
| chr2:73531524
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9782-3300C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531524 | ||||||
| chr2:73531536
|
A | G | 1 | a0003c0002t0001g0014 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.9782-3288A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531536 | ||||||
| chr2:73531676
|
C | T | 83 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(80): Show | 83 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.9782-3148C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531676 | ||||||
| chr2:73531843
|
G | A | 1 | a0006c0010t0001g0096 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.9782-2981G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531843 | ||||||
| chr2:73531998
|
C | G | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.9782-2826C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73531998 | ||||||
| chr2:73532215
|
C | T | 1 | a0004c0003t0002g0071 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.9782-2609C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532215 | ||||||
| chr2:73532450
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9782-2374A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532450 | ||||||
| chr2:73532509
|
C | T | 3 | a0001c0001t0001g0175a0001c0001t0001g0176a0015c0015t0001g0214 | 3 | HG01192.hp2 HG02683.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.9782-2315C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532509 | ||||||
| chr2:73532556
|
T | C | 1 | a0002c0011t0001g0042 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.9782-2268T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532556 | ||||||
| chr2:73532564
|
C | T | 1 | a0055c0072t0001g0177 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.9782-2260C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532564 | ||||||
| chr2:73532997
|
C | G | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.9782-1827C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73532997 | ||||||
| chr2:73533336
|
A | G | 2 | a0003c0002t0001g0015a0023c0027t0001g0007 | 2 | HG02056.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.9782-1488A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73533336 | ||||||
| chr2:73533812
|
C | T | 137 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(134): Show | 137 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.9782-1012C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73533812 | ||||||
| chr2:73533840
|
G | A | 1 | a0003c0002t0001g0063 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.9782-984G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73533840 | ||||||
| chr2:73534206
|
A | C | 4 | a0001c0001t0001g0126a0001c0001t0001g0212a0007c0006t0001g0131others(1): Show | 4 | HG02056.hp2 NA18941.hp1 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.9782-618A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534206 | ||||||
| chr2:73534306
|
A | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9782-518A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534306 | ||||||
| chr2:73534319
|
C | G | 89 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(86): Show | 89 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.9782-505C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534319 | ||||||
| chr2:73534599
|
A | T | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.9782-225A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534599 | ||||||
| chr2:73534754
|
G | A | 122 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(119): Show | 122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.9782-70G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534754 | ||||||
| chr2:73534815
|
C | T | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.9782-9C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | 73534815 | ||||||
| chr2:73534969
|
C | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.9907+20C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73534969 | ||||||
| chr2:73535078
|
T | G | 4 | a0001c0001t0001g0136a0001c0001t0001g0138a0001c0066t0001g0135others(1): Show | 4 | HG01081.hp1 HG01099.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.9907+129T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535078 | ||||||
| chr2:73535109
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.9907+160A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535109 | ||||||
| chr2:73535258
|
G | A | 26 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(23): Show | 26 | HG00609.hp2 HG00642.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.9907+309G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535258 | ||||||
| chr2:73535318
|
T | C | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.9907+369T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535318 | ||||||
| chr2:73535795
|
T | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9907+846T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535795 | ||||||
| chr2:73535999
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9907+1050C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73535999 | ||||||
| chr2:73536173
|
T | C | 1 | a0034c0049t0001g0039 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.9907+1224T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536173 | ||||||
| chr2:73536208
|
T | C | 5 | a0002c0004t0001g0239a0002c0004t0001g0247a0002c0023t0001g0195others(2): Show | 5 | HG01243.hp1 HG02970.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.9907+1259T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536208 | ||||||
| chr2:73536239
|
A | G | 24 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(21): Show | 24 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.9907+1290A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536239 | ||||||
| chr2:73536328
|
G | A | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9907+1379G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536328 | ||||||
| chr2:73536601
|
C | T | 3 | a0017c0017t0003g0224a0017c0017t0003g0225a0059c0076t0001g0003 | 3 | HG02055.hp2 HG03540.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.9907+1652C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536601 | ||||||
| chr2:73536666
|
A | G | 1 | a0001c0001t0001g0156 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.9907+1717A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536666 | ||||||
| chr2:73536756
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.9907+1807C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536756 | ||||||
| chr2:73536925
|
A | G | 2 | a0009c0013t0001g0244a0009c0013t0001g0245 | 2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.9907+1976A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536925 | ||||||
| chr2:73536958
|
T | C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.9907+2009T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73536958 | ||||||
| chr2:73537017
|
C | A | 1 | a0004c0003t0002g0091 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.9907+2068C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537017 | ||||||
| chr2:73537058
|
C | T | 24 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(21): Show | 24 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.9907+2109C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537058 | ||||||
| chr2:73537068
|
C | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9907+2119C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537068 | ||||||
| chr2:73537249
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+2300G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537249 | ||||||
| chr2:73537330
|
C | T | 38 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(35): Show | 38 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(35): Show |
intron_variant | MODIFIER | c.9907+2381C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537330 | ||||||
| chr2:73537498
|
C | T | 2 | a0008c0008t0001g0231a0008c0008t0001g0232 | 2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.9907+2549C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537498 | ||||||
| chr2:73537618
|
T | C | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9907+2669T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537618 | ||||||
| chr2:73537650
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+2701G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537650 | ||||||
| chr2:73537702
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+2753G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73537702 | ||||||
| chr2:73538126
|
C | A | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9907+3177C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538126 | ||||||
| chr2:73538311
|
T | C | 154 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(151): Show | 154 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.9907+3362T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538311 | ||||||
| chr2:73538459
|
G | A | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.9907+3510G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538459 | ||||||
| chr2:73538483
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+3534C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538483 | ||||||
| chr2:73538565
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+3616G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538565 | ||||||
| chr2:73538606
|
G | A | 1 | a0003c0002t0001g0020 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.9907+3657G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538606 | ||||||
| chr2:73538702
|
C | A | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.9907+3753C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538702 | ||||||
| chr2:73538746
|
C | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9907+3797C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538746 | ||||||
| chr2:73538753
|
G | A | 2 | a0001c0001t0001g0165a0010c0009t0001g0188 | 2 | HG01070.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.9907+3804G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538753 | ||||||
| chr2:73538779
|
G | T | 1 | a0029c0056t0002g0087 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.9907+3830G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538779 | ||||||
| chr2:73538799
|
T | C | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.9907+3850T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538799 | ||||||
| chr2:73538900
|
G | C | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9907+3951G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73538900 | ||||||
| chr2:73539129
|
C | T | 2 | a0001c0001t0001g0217a0016c0016t0001g0221 | 2 | NA18944.hp2 NA19089.hp2 |
intron_variant | MODIFIER | c.9907+4180C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539129 | ||||||
| chr2:73539198
|
C | T | 4 | a0007c0006t0001g0166a0019c0018t0001g0056a0019c0018t0001g0057others(1): Show | 4 | HG00738.hp1 HG01261.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.9907+4249C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539198 | ||||||
| chr2:73539274
|
G | C | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9907+4325G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539274 | ||||||
| chr2:73539284
|
G | A | 2 | a0003c0002t0001g0008a0003c0002t0001g0058 | 2 | NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.9907+4335G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539284 | ||||||
| chr2:73539327
|
A | T | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.9907+4378A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539327 | ||||||
| chr2:73539342
|
C | T | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.9907+4393C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539342 | ||||||
| chr2:73539465
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9907+4516C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539465 | ||||||
| chr2:73539537
|
C | T | 42 | a0001c0001t0001g0149a0002c0020t0001g0207a0002c0020t0001g0208others(39): Show | 42 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(39): Show |
intron_variant | MODIFIER | c.9907+4588C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539537 | ||||||
| chr2:73539573
|
C | T | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.9907+4624C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539573 | ||||||
| chr2:73539576
|
C | T | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.9907+4627C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539576 | ||||||
| chr2:73539718
|
C | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.9907+4769C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539718 | ||||||
| chr2:73539811
|
G | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+4862G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539811 | ||||||
| chr2:73539993
|
A | G | 22 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(19): Show | 22 | HG00642.hp2 HG01433.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.9907+5044A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73539993 | ||||||
| chr2:73540033
|
G | A | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.9907+5084G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540033 | ||||||
| chr2:73540083
|
G | T | 1 | a0005c0005t0001g0116 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9907+5134G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540083 | ||||||
| chr2:73540084
|
T | C | 29 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(26): Show | 29 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.9907+5135T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540084 | ||||||
| chr2:73540097
|
G | C | 29 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(26): Show | 29 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.9907+5148G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540097 | ||||||
| chr2:73540130
|
G | A | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9907+5181G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540130 | ||||||
| chr2:73540227
|
A | G | 1 | a0007c0006t0001g0131 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.9907+5278A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540227 | ||||||
| chr2:73540393
|
T | C | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9907+5444T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540393 | ||||||
| chr2:73540419
|
C | T | 1 | a0001c0001t0001g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.9907+5470C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540419 | ||||||
| chr2:73540537
|
T | C | 1 | a0006c0007t0001g0098 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.9907+5588T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540537 | ||||||
| chr2:73540555
|
C | T | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.9907+5606C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540555 | ||||||
| chr2:73540647
|
C | T | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9907+5698C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540647 | ||||||
| chr2:73540685
|
C | G | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.9907+5736C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540685 | ||||||
| chr2:73540715
|
G | A | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9907+5766G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540715 | ||||||
| chr2:73540770
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.9907+5821G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540770 | ||||||
| chr2:73540959
|
T | C | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.9907+6010T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540959 | ||||||
| chr2:73540981
|
A | G | 1 | a0005c0005t0001g0116 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9907+6032A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73540981 | ||||||
| chr2:73541071
|
T | A | 16 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(13): Show | 16 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.9907+6122T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541071 | ||||||
| chr2:73541095
|
A | G | 29 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(26): Show | 29 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.9907+6146A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541095 | ||||||
| chr2:73541105
|
T | G | 117 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(114): Show | 117 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.9907+6156T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541105 | ||||||
| chr2:73541116
|
T | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9907+6167T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541116 | ||||||
| chr2:73541234
|
G | C | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.9907+6285G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541234 | ||||||
| chr2:73541243
|
G | A | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9907+6294G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541243 | ||||||
| chr2:73541254
|
A | G | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.9907+6305A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541254 | ||||||
| chr2:73541260
|
C | T | 13 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(10): Show | 13 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.9907+6311C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541260 | ||||||
| chr2:73541440
|
G | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9907+6491G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541440 | ||||||
| chr2:73541605
|
A | T | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.9907+6656A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541605 | ||||||
| chr2:73541619
|
G | A | 122 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(119): Show | 122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.9907+6670G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541619 | ||||||
| chr2:73541793
|
A | C | 1 | a0001c0001t0001g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.9907+6844A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541793 | ||||||
| chr2:73541926
|
T | C | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.9907+6977T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541926 | ||||||
| chr2:73541949
|
G | A | 1 | a0030c0038t0001g0055 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.9907+7000G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541949 | ||||||
| chr2:73541985
|
A | G | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.9907+7036A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541985 | ||||||
| chr2:73541992
|
G | A | 1 | a0003c0002t0001g0019 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.9907+7043G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541992 | ||||||
| chr2:73541993
|
A | G | 1 | a0003c0002t0001g0019 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.9907+7044A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541993 | ||||||
| chr2:73541994
|
G | A | 1 | a0003c0002t0001g0019 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.9907+7045G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73541994 | ||||||
| chr2:73542131
|
A | C | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9907+7182A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542131 | ||||||
| chr2:73542320
|
C | G | 1 | a0051c0068t0001g0128 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.9907+7371C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542320 | ||||||
| chr2:73542347
|
G | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+7398G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542347 | ||||||
| chr2:73542453
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.9907+7504C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542453 | ||||||
| chr2:73542492
|
C | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9907+7543C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542492 | ||||||
| chr2:73542578
|
C | T | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.9907+7629C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542578 | ||||||
| chr2:73542729
|
C | G | 1 | a0007c0006t0001g0131 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.9908-7538C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542729 | ||||||
| chr2:73542730
|
C | A | 3 | a0007c0006t0001g0131a0022c0028t0001g0009a0022c0028t0001g0010 | 3 | HG02056.hp2 NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.9908-7537C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542730 | ||||||
| chr2:73542731
|
G | T | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.9908-7536G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542731 | ||||||
| chr2:73542732
|
A | C | 1 | a0007c0006t0001g0131 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.9908-7535A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542732 | ||||||
| chr2:73542755
|
C | T | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.9908-7512C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542755 | ||||||
| chr2:73542760
|
C | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-7507C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542760 | ||||||
| chr2:73542847
|
A | G | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.9908-7420A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542847 | ||||||
| chr2:73542950
|
T | G | 101 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(98): Show | 101 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.9908-7317T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542950 | ||||||
| chr2:73542960
|
G | A | 38 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(35): Show | 38 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(35): Show |
intron_variant | MODIFIER | c.9908-7307G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73542960 | ||||||
| chr2:73543035
|
A | C | 142 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(139): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(139): Show |
intron_variant | MODIFIER | c.9908-7232A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543035 | ||||||
| chr2:73543055
|
C | CA | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-7211dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 73543055 | |||||
| chr2:73543119
|
T | C | 2 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | NA18944.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.9908-7148T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543119 | ||||||
| chr2:73543230
|
A | C | 1 | a0010c0009t0001g0187 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.9908-7037A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543230 | ||||||
| chr2:73543251
|
AACAAGC | A | 5 | a0002c0023t0001g0195a0002c0023t0001g0196a0011c0024t0001g0194others(2): Show | 5 | HG02622.hp1 HG02970.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.9908-7014_9908-700 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 73543251 | |||||
| chr2:73543523
|
A | C | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9908-6744A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543523 | ||||||
| chr2:73543542
|
T | C | 1 | a0012c0012t0001g0203 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.9908-6725T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543542 | ||||||
| chr2:73543783
|
G | A | 122 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(119): Show | 122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.9908-6484G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543783 | ||||||
| chr2:73543882
|
G | T | 1 | a0002c0011t0001g0006 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.9908-6385G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543882 | ||||||
| chr2:73543883
|
G | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-6384G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543883 | ||||||
| chr2:73543900
|
C | T | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.9908-6367C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543900 | ||||||
| chr2:73543943
|
T | G | 2 | a0015c0015t0001g0181a0015c0015t0001g0190 | 2 | HG00280.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.9908-6324T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73543943 | ||||||
| chr2:73544065
|
A | G | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.9908-6202A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544065 | ||||||
| chr2:73544141
|
A | T | 1 | a0010c0009t0001g0188 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.9908-6126A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544141 | ||||||
| chr2:73544259
|
T | C | 155 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(152): Show | 155 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show |
intron_variant | MODIFIER | c.9908-6008T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544259 | ||||||
| chr2:73544380
|
G | A | 1 | a0010c0009t0001g0187 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.9908-5887G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544380 | ||||||
| chr2:73544447
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-5820A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544447 | ||||||
| chr2:73544568
|
G | C | 143 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(140): Show | 143 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(140): Show |
intron_variant | MODIFIER | c.9908-5699G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544568 | ||||||
| chr2:73544663
|
A | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9908-5604A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544663 | ||||||
| chr2:73544842
|
C | T | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9908-5425C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544842 | ||||||
| chr2:73544847
|
A | G | 2 | a0008c0008t0001g0233a0008c0008t0001g0234 | 2 | HG02895.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.9908-5420A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73544847 | ||||||
| chr2:73545123
|
A | G | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9908-5144A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545123 | ||||||
| chr2:73545124
|
G | A | 137 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(134): Show | 137 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.9908-5143G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545124 | ||||||
| chr2:73545181
|
G | GT | 11 | a0001c0001t0001g0002a0001c0001t0001g0150a0001c0001t0001g0154others(8): Show | 11 | HG01106.hp2 HG01169.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.9908-5069dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 73545181 | |||||
| chr2:73545181
|
GT | G | 10 | a0001c0001t0001g0179a0003c0002t0001g0019a0003c0002t0001g0020others(7): Show | 10 | HG01069.hp2 HG01070.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.9908-5069delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 73545181 | |||||
| chr2:73545182
|
T | G | 92 | a0001c0001t0001g0167a0002c0004t0001g0005a0002c0004t0001g0031others(89): Show | 92 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(89): Show |
intron_variant | MODIFIER | c.9908-5085T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545182 | ||||||
| chr2:73545183
|
T | G | 7 | a0002c0004t0001g0247a0004c0003t0002g0064a0004c0003t0002g0066others(4): Show | 7 | HG01069.hp2 HG01070.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.9908-5084T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545183 | ||||||
| chr2:73545184
|
T | G | 1 | a0002c0004t0001g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.9908-5083T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545184 | ||||||
| chr2:73545266
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.9908-5001C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545266 | ||||||
| chr2:73545355
|
A | G | 1 | a0052c0071t0001g0140 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.9908-4912A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545355 | ||||||
| chr2:73545712
|
A | G | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.9908-4555A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545712 | ||||||
| chr2:73545723
|
G | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9908-4544G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545723 | ||||||
| chr2:73545982
|
A | G | 1 | a0003c0002t0001g0026 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.9908-4285A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73545982 | ||||||
| chr2:73546015
|
C | G | 1 | a0001c0001t0001g0137 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.9908-4252C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546015 | ||||||
| chr2:73546089
|
A | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9908-4178A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546089 | ||||||
| chr2:73546109
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9908-4158A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546109 | ||||||
| chr2:73546181
|
A | G | 1 | a0037c0044t0002g0079 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.9908-4086A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546181 | ||||||
| chr2:73546277
|
C | G | 2 | a0003c0002t0001g0019a0003c0002t0001g0020 | 2 | NA18948.hp1 NA18994.hp2 |
intron_variant | MODIFIER | c.9908-3990C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546277 | ||||||
| chr2:73546374
|
A | G | 2 | a0018c0025t0001g0053a0018c0025t0001g0054 | 2 | HG02717.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.9908-3893A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546374 | ||||||
| chr2:73546376
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.9908-3891G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546376 | ||||||
| chr2:73546383
|
T | A | 16 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(13): Show | 16 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.9908-3884T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546383 | ||||||
| chr2:73546508
|
A | T | 1 | a0003c0002t0001g0028 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.9908-3759A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546508 | ||||||
| chr2:73546514
|
A | C | 1 | a0003c0002t0001g0028 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.9908-3753A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546514 | ||||||
| chr2:73546564
|
A | G | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.9908-3703A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546564 | ||||||
| chr2:73546742
|
G | C | 150 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(147): Show | 150 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(147): Show |
intron_variant | MODIFIER | c.9908-3525G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546742 | ||||||
| chr2:73546757
|
C | T | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.9908-3510C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546757 | ||||||
| chr2:73546806
|
G | A | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.9908-3461G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546806 | ||||||
| chr2:73546892
|
G | A | 191 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(188): Show | 191 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.9908-3375G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73546892 | ||||||
| chr2:73547009
|
GACTTTAT others(6): Show |
G | 2 | a0002c0004t0001g0247a0032c0046t0001g0230 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.9908-3256_9908-324 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 73547009 | |||||
| chr2:73547483
|
G | A | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.9908-2784G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73547483 | ||||||
| chr2:73547578
|
A | G | 1 | a0001c0001t0001g0136 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.9908-2689A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73547578 | ||||||
| chr2:73547767
|
T | C | 1 | a0007c0006t0001g0127 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.9908-2500T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73547767 | ||||||
| chr2:73547794
|
G | A | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.9908-2473G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73547794 | ||||||
| chr2:73547979
|
G | A | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.9908-2288G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73547979 | ||||||
| chr2:73548087
|
G | A | 24 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(21): Show | 24 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.9908-2180G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73548087 | ||||||
| chr2:73548099
|
A | C | 1 | a0058c0074t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.9908-2168A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73548099 | ||||||
| chr2:73548157
|
A | G | 1 | a0010c0009t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.9908-2110A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73548157 | ||||||
| chr2:73548534
|
G | C | 1 | a0007c0006t0001g0158 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.9908-1733G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73548534 | ||||||
| chr2:73549033
|
T | C | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.9908-1234T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549033 | ||||||
| chr2:73549187
|
C | A | 1 | a0007c0006t0001g0127 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.9908-1080C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549187 | ||||||
| chr2:73549321
|
T | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-946T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549321 | ||||||
| chr2:73549455
|
G | C | 142 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(139): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(139): Show |
intron_variant | MODIFIER | c.9908-812G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549455 | ||||||
| chr2:73549489
|
C | G | 24 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(21): Show | 24 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.9908-778C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549489 | ||||||
| chr2:73549754
|
G | A | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9908-513G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549754 | ||||||
| chr2:73549854
|
C | T | 1 | a0015c0015t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.9908-413C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549854 | ||||||
| chr2:73549922
|
A | G | 12 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(9): Show | 12 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.9908-345A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549922 | ||||||
| chr2:73549958
|
C | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.9908-309C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73549958 | ||||||
| chr2:73550046
|
A | G | 3 | a0001c0001t0001g0175a0001c0001t0001g0176a0015c0015t0001g0214 | 3 | HG01192.hp2 HG02683.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.9908-221A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73550046 | ||||||
| chr2:73550075
|
G | A | 1 | a0001c0001t0001g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.9908-192G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73550075 | ||||||
| chr2:73550121
|
A | G | 1 | a0019c0018t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.9908-146A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | chr2 | 73550121 | ||||||
| chr2:73550629
|
G | T | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | HG00609.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.10078+192G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73550629 | ||||||
| chr2:73550886
|
G | T | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.10078+449G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73550886 | ||||||
| chr2:73551032
|
G | GT | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.10078+601dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551032 | |||||
| chr2:73551140
|
T | C | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.10078+703T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551140 | ||||||
| chr2:73551258
|
C | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.10078+821C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551258 | ||||||
| chr2:73551423
|
AT | A | 7 | a0008c0008t0001g0232a0008c0008t0001g0233a0008c0008t0001g0234others(4): Show | 7 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.10078+987delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551423 | ||||||
| chr2:73551424
|
T | C | 1 | a0008c0008t0001g0231 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.10078+987T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551424 | ||||||
| chr2:73551425
|
C | CT | 27 | a0001c0001t0001g0125a0001c0001t0001g0145a0001c0001t0001g0149others(24): Show | 27 | HG01069.hp1 HG01099.hp2 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.10078+1016dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551425
|
CT | C | 36 | a0001c0001t0001g0160a0001c0001t0001g0178a0002c0023t0001g0195others(33): Show | 36 | HG01167.hp1 HG01169.hp1 HG01256.hp2 others(33): Show |
intron_variant | MODIFIER | c.10078+1016delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551425
|
CTTTTT | C | 11 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.10078+1012_10078+1 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551425
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0216 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.10078+1006_10078+1 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551425
|
CTTTTTTT others(5): Show |
C | 3 | a0002c0004t0001g0038a0003c0002t0001g0063a0021c0029t0001g0119 | 3 | HG03471.hp2 NA18969.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.10078+1005_10078+1 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551425
|
CTTTTTTT others(6): Show |
C | 27 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(24): Show | 27 | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(24): Show |
intron_variant | MODIFIER | c.10078+1004_10078+1 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73551425 | |||||
| chr2:73551426
|
T | C | 7 | a0008c0008t0001g0232a0008c0008t0001g0233a0008c0008t0001g0234others(4): Show | 7 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.10078+989T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551426 | ||||||
| chr2:73551430
|
T | C | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.10078+993T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551430 | ||||||
| chr2:73551482
|
G | A | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10078+1045G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551482 | ||||||
| chr2:73551498
|
G | A | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.10078+1061G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551498 | ||||||
| chr2:73551562
|
G | A | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.10078+1125G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551562 | ||||||
| chr2:73551672
|
A | T | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.10078+1235A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551672 | ||||||
| chr2:73551825
|
T | A | 2 | a0002c0020t0001g0207a0002c0040t0001g0206 | 2 | HG02055.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.10078+1388T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73551825 | ||||||
| chr2:73552148
|
C | T | 1 | a0003c0002t0001g0063 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.10078+1711C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552148 | ||||||
| chr2:73552171
|
A | T | 1 | a0039c0037t0001g0032 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.10078+1734A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552171 | ||||||
| chr2:73552224
|
A | G | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.10078+1787A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552224 | ||||||
| chr2:73552233
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.10078+1796C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552233 | ||||||
| chr2:73552380
|
G | A | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.10078+1943G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552380 | ||||||
| chr2:73552536
|
C | T | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.10078+2099C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552536 | ||||||
| chr2:73552613
|
A | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.10078+2176A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552613 | ||||||
| chr2:73552782
|
A | G | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.10078+2345A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552782 | ||||||
| chr2:73552830
|
G | A | 1 | a0003c0002t0001g0014 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.10078+2393G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73552830 | ||||||
| chr2:73553168
|
A | G | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.10078+2731A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553168 | ||||||
| chr2:73553222
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.10078+2785A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553222 | ||||||
| chr2:73553310
|
G | A | 4 | a0006c0010t0001g0096a0006c0010t0001g0103a0006c0010t0001g0104others(1): Show | 4 | HG01884.hp2 HG02572.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.10078+2873G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553310 | ||||||
| chr2:73553331
|
G | T | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.10078+2894G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553331 | ||||||
| chr2:73553414
|
T | A | 33 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(30): Show | 33 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(30): Show |
intron_variant | MODIFIER | c.10078+2977T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553414 | ||||||
| chr2:73553524
|
G | A | 2 | a0003c0002t0001g0093a0010c0009t0001g0187 | 2 | HG00621.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.10078+3087G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553524 | ||||||
| chr2:73553617
|
T | C | 1 | a0002c0004t0001g0239 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10078+3180T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553617 | ||||||
| chr2:73553786
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10078+3349A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73553786 | ||||||
| chr2:73554231
|
CA | C | 39 | a0002c0004t0001g0048a0005c0005t0001g0106a0005c0005t0001g0107others(36): Show | 39 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.10079-2976delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73554231 | |||||
| chr2:73554432
|
G | A | 3 | a0001c0001t0001g0178a0001c0001t0001g0179a0055c0072t0001g0177 | 3 | HG02293.hp2 NA18950.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.10079-2788G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554432 | ||||||
| chr2:73554467
|
G | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10079-2753G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554467 | ||||||
| chr2:73554472
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10079-2748A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554472 | ||||||
| chr2:73554480
|
T | C | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10079-2740T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554480 | ||||||
| chr2:73554490
|
G | A | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10079-2730G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554490 | ||||||
| chr2:73554549
|
C | CA | 14 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(11): Show | 14 | HG01192.hp1 HG02647.hp2 HG02818.hp1 others(11): Show |
intron_variant | MODIFIER | c.10079-2657dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73554549 | |||||
| chr2:73554725
|
G | T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.10079-2495G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554725 | ||||||
| chr2:73554840
|
G | T | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.10079-2380G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73554840 | ||||||
| chr2:73555073
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10079-2147A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555073 | ||||||
| chr2:73555093
|
G | T | 1 | a0001c0001t0001g0212 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.10079-2127G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555093 | ||||||
| chr2:73555288
|
A | G | 2 | a0001c0001t0001g0171a0007c0006t0001g0173 | 2 | HG00323.hp2 HG01257.hp2 |
intron_variant | MODIFIER | c.10079-1932A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555288 | ||||||
| chr2:73555289
|
T | C | 1 | a0006c0010t0001g0097 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10079-1931T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555289 | ||||||
| chr2:73555670
|
C | G | 1 | a0010c0009t0001g0184 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.10079-1550C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555670 | ||||||
| chr2:73555888
|
C | T | 1 | a0002c0004t0001g0048 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.10079-1332C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73555888 | ||||||
| chr2:73556033
|
A | T | 42 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(39): Show | 42 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(39): Show |
intron_variant | MODIFIER | c.10079-1187A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556033 | ||||||
| chr2:73556352
|
C | G | 1 | a0001c0001t0001g0132 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.10079-868C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556352 | ||||||
| chr2:73556633
|
CT | C | 20 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.10079-576delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73556633 | |||||
| chr2:73556642
|
T | TTG | 19 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(16): Show | 19 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(16): Show |
intron_variant | MODIFIER | c.10079-577_10079-57 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 73556642 | |||||
| chr2:73556643
|
T | TG | 70 | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(67): Show | 70 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.10079-577_10079-57 others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556643 | ||||||
| chr2:73556644
|
T | G | 16 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(13): Show | 16 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.10079-576T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556644 | ||||||
| chr2:73556645
|
G | T | 105 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(102): Show | 105 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.10079-575G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556645 | ||||||
| chr2:73556783
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.10079-437G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556783 | ||||||
| chr2:73556847
|
C | T | 2 | a0001c0001t0001g0192a0007c0006t0001g0158 | 2 | HG02258.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.10079-373C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73556847 | ||||||
| chr2:73557061
|
A | G | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.10079-159A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | chr2 | 73557061 | ||||||
| chr2:73557376
|
C | T | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.10213+22C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73557376 | ||||||
| chr2:73557646
|
C | T | 14 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.10213+292C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73557646 | ||||||
| chr2:73557677
|
C | T | 1 | a0003c0002t0001g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.10213+323C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73557677 | ||||||
| chr2:73557919
|
G | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10213+565G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73557919 | ||||||
| chr2:73557940
|
G | A | 1 | a0036c0045t0002g0062 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.10213+586G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73557940 | ||||||
| chr2:73558181
|
T | C | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.10214-791T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73558181 | ||||||
| chr2:73558231
|
A | G | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.10214-741A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73558231 | ||||||
| chr2:73558753
|
A | C | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.10214-219A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73558753 | ||||||
| chr2:73558758
|
G | A | 1 | a0029c0056t0002g0087 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.10214-214G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 14/22 | chr2 | 73558758 | ||||||
| chr2:73559314
|
C | CTA | 89 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(86): Show | 89 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.10384+185_10384+18 others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73559314 | |||||
| chr2:73559335
|
C | T | 1 | a0055c0072t0001g0177 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.10384+193C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73559335 | ||||||
| chr2:73559336
|
A | G | 1 | a0021c0029t0001g0119 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.10384+194A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73559336 | ||||||
| chr2:73559603
|
C | G | 3 | a0016c0016t0001g0220a0016c0016t0005g0222a0042c0034t0001g0025 | 3 | NA18945.hp1 NA18947.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.10384+461C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73559603 | ||||||
| chr2:73559830
|
T | A | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.10384+688T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73559830 | ||||||
| chr2:73559874
|
G | C | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.10384+732G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73559874 | ||||||
| chr2:73560073
|
A | T | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.10384+931A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560073 | ||||||
| chr2:73560107
|
G | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.10384+965G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560107 | ||||||
| chr2:73560113
|
A | G | 12 | a0002c0054t0001g0193a0011c0022t0001g0199a0011c0022t0001g0200others(9): Show | 12 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.10384+971A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560113 | ||||||
| chr2:73560217
|
G | C | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.10384+1075G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560217 | ||||||
| chr2:73560352
|
C | T | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.10384+1210C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560352 | ||||||
| chr2:73560525
|
G | A | 24 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(21): Show | 24 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.10384+1383G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560525 | ||||||
| chr2:73560630
|
A | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.10384+1488A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560630 | ||||||
| chr2:73560899
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.10384+1757G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560899 | ||||||
| chr2:73560999
|
A | G | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.10384+1857A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73560999 | ||||||
| chr2:73561029
|
C | T | 1 | a0001c0001t0001g0146 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.10384+1887C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561029 | ||||||
| chr2:73561323
|
GT | G | 28 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(25): Show | 28 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(25): Show |
intron_variant | MODIFIER | c.10384+2187delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73561323 | |||||
| chr2:73561396
|
T | G | 2 | a0001c0001t0001g0213a0051c0068t0001g0128 | 2 | HG03654.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.10384+2254T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561396 | ||||||
| chr2:73561492
|
T | C | 1 | a0004c0003t0002g0074 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.10384+2350T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561492 | ||||||
| chr2:73561672
|
A | ATAATAGC others(725): Show |
14 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(11): Show | 14 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.10384+2530_10384+2 others(738): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561672 | ||||||
| chr2:73561673
|
A | G | 14 | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(11): Show | 14 | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.10384+2531A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561673 | ||||||
| chr2:73561707
|
G | A | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.10384+2565G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561707 | ||||||
| chr2:73561710
|
G | T | 1 | a0001c0001t0001g0157 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.10384+2568G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73561710 | ||||||
| chr2:73562141
|
T | TTGTA | 8 | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196others(5): Show | 8 | HG00280.hp1 HG01891.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.10384+3033_10384+3 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73562141 | |||||
| chr2:73562141
|
TTGTATGT others(1): Show |
T | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.10384+3029_10384+3 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73562141 | |||||
| chr2:73562141
|
TTGTATGT others(5): Show |
T | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.10384+3025_10384+3 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73562141 | |||||
| chr2:73562163
|
G | A | 1 | a0004c0003t0002g0072 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.10384+3021G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73562163 | ||||||
| chr2:73562622
|
T | G | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.10384+3480T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73562622 | ||||||
| chr2:73562770
|
C | A | 3 | a0002c0004t0001g0239a0002c0004t0001g0247a0032c0046t0001g0230 | 3 | HG01243.hp1 NA18522.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.10384+3628C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73562770 | ||||||
| chr2:73562919
|
A | G | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.10384+3777A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73562919 | ||||||
| chr2:73562931
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10384+3789A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73562931 | ||||||
| chr2:73563054
|
A | T | 2 | a0006c0007t0001g0101a0006c0007t0001g0102 | 2 | HG02630.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.10384+3912A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563054 | ||||||
| chr2:73563092
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.10384+3950A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563092 | ||||||
| chr2:73563241
|
T | C | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.10384+4099T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563241 | ||||||
| chr2:73563506
|
A | T | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.10384+4364A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563506 | ||||||
| chr2:73563615
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.10384+4473C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563615 | ||||||
| chr2:73563732
|
A | T | 1 | a0001c0001t0001g0160 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.10384+4590A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563732 | ||||||
| chr2:73563733
|
A | T | 1 | a0007c0006t0001g0166 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.10384+4591A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563733 | ||||||
| chr2:73563734
|
A | T | 1 | a0023c0027t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.10384+4592A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563734 | ||||||
| chr2:73563735
|
A | T | 17 | a0001c0001t0001g0130a0001c0001t0001g0144a0001c0001t0001g0145others(14): Show | 17 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(14): Show |
intron_variant | MODIFIER | c.10384+4593A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563735 | ||||||
| chr2:73563735
|
AAAAAAT | A | 18 | a0002c0004t0001g0051a0002c0004t0001g0052a0002c0011t0001g0004others(15): Show | 18 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
intron_variant | MODIFIER | c.10384+4605_10384+4 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73563735 | |||||
| chr2:73563736
|
AAAAATAA others(4): Show |
A | 10 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(7): Show | 10 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.10384+4599_10384+4 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73563736 | |||||
| chr2:73563737
|
A | T | 4 | a0006c0010t0001g0096a0006c0010t0001g0103a0006c0010t0001g0104others(1): Show | 4 | HG01884.hp2 HG02572.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.10384+4595A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563737 | ||||||
| chr2:73563739
|
AAT | A | 11 | a0005c0005t0001g0107a0005c0005t0001g0108a0005c0005t0001g0109others(8): Show | 11 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.10384+4599_10384+4 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73563739 | |||||
| chr2:73563740
|
ATAAAAAT | A | 106 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(103): Show | 106 | HG00738.hp1 HG01069.hp2 HG01070.hp2 others(103): Show |
intron_variant | MODIFIER | c.10384+4599_10384+4 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563740 | ||||||
| chr2:73563741
|
T | A | 6 | a0002c0041t0001g0094a0021c0029t0001g0119a0021c0029t0001g0121others(3): Show | 6 | HG02717.hp2 HG02886.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.10384+4599T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563741 | ||||||
| chr2:73563747
|
T | A | 36 | a0002c0004t0001g0051a0002c0004t0001g0052a0002c0011t0001g0004others(33): Show | 36 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.10384+4605T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563747 | ||||||
| chr2:73563968
|
A | T | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.10384+4826A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73563968 | ||||||
| chr2:73564055
|
T | G | 1 | a0012c0012t0001g0203 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.10384+4913T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564055 | ||||||
| chr2:73564064
|
G | A | 2 | a0014c0021t0001g0043a0014c0021t0001g0044 | 2 | HG03209.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.10384+4922G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564064 | ||||||
| chr2:73564098
|
T | TA | 7 | a0001c0001t0001g0130a0007c0006t0001g0152a0013c0014t0001g0164others(4): Show | 7 | HG01167.hp2 HG01261.hp1 HG01433.hp1 others(4): Show |
intron_variant | MODIFIER | c.10384+4966dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73564098 | |||||
| chr2:73564108
|
A | G | 29 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(26): Show | 29 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.10384+4966A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564108 | ||||||
| chr2:73564465
|
C | CA | 55 | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(52): Show | 55 | HG00621.hp2 HG00735.hp1 HG01109.hp2 others(52): Show |
intron_variant | MODIFIER | c.10384+5345dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73564465 | |||||
| chr2:73564465
|
C | CAA | 6 | a0003c0002t0001g0011a0003c0002t0001g0020a0003c0002t0001g0021others(3): Show | 6 | HG02055.hp2 HG02886.hp2 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.10384+5344_10384+5 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73564465 | |||||
| chr2:73564465
|
CA | C | 6 | a0001c0001t0001g0141a0002c0004t0001g0034a0002c0004t0001g0036others(3): Show | 6 | HG01256.hp1 HG01891.hp2 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.10384+5345delA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73564465 | |||||
| chr2:73564615
|
C | T | 1 | a0003c0002t0001g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.10384+5473C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564615 | ||||||
| chr2:73564681
|
C | T | 129 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.10384+5539C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564681 | ||||||
| chr2:73564735
|
A | G | 2 | a0001c0001t0001g0137a0001c0001t0001g0248 | 2 | NA18961.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.10384+5593A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564735 | ||||||
| chr2:73564743
|
T | G | 2 | a0009c0013t0001g0244a0009c0013t0001g0245 | 2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.10384+5601T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564743 | ||||||
| chr2:73564932
|
G | A | 12 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(9): Show | 12 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(9): Show |
intron_variant | MODIFIER | c.10384+5790G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73564932 | ||||||
| chr2:73565080
|
A | G | 2 | a0020c0019t0002g0075a0020c0019t0002g0090 | 2 | HG02300.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.10384+5938A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565080 | ||||||
| chr2:73565107
|
A | C | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.10384+5965A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565107 | ||||||
| chr2:73565122
|
G | C | 1 | a0009c0026t0001g0241 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.10384+5980G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565122 | ||||||
| chr2:73565659
|
G | A | 243 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0124others(240): Show | 243 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.10384+6517G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565659 | ||||||
| chr2:73565777
|
C | A | 2 | a0001c0001t0001g0212a0007c0006t0001g0211 | 2 | NA18941.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.10385-6485C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565777 | ||||||
| chr2:73565969
|
G | A | 1 | a0001c0001t0001g0141 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.10385-6293G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565969 | ||||||
| chr2:73565973
|
G | T | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.10385-6289G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565973 | ||||||
| chr2:73565995
|
G | A | 2 | a0002c0023t0001g0195a0002c0023t0001g0196 | 2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.10385-6267G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73565995 | ||||||
| chr2:73566101
|
A | G | 1 | a0001c0001t0001g0126 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.10385-6161A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566101 | ||||||
| chr2:73566103
|
C | T | 1 | a0007c0006t0001g0163 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.10385-6159C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566103 | ||||||
| chr2:73566108
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.10385-6154G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566108 | ||||||
| chr2:73566298
|
A | G | 7 | a0003c0002t0001g0093a0010c0009t0001g0184a0010c0009t0001g0185others(4): Show | 7 | HG00621.hp2 HG01106.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.10385-5964A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566298 | ||||||
| chr2:73566376
|
C | T | 1 | a0007c0006t0001g0131 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.10385-5886C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566376 | ||||||
| chr2:73566681
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.10385-5581A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566681 | ||||||
| chr2:73566927
|
C | T | 129 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.10385-5335C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73566927 | ||||||
| chr2:73567277
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-4985A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567277 | ||||||
| chr2:73567313
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.10385-4949T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567313 | ||||||
| chr2:73567327
|
C | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10385-4935C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567327 | ||||||
| chr2:73567329
|
C | T | 1 | a0052c0071t0001g0140 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.10385-4933C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567329 | ||||||
| chr2:73567462
|
A | C | 12 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(9): Show | 12 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(9): Show |
intron_variant | MODIFIER | c.10385-4800A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567462 | ||||||
| chr2:73567469
|
A | G | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.10385-4793A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567469 | ||||||
| chr2:73567899
|
G | A | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.10385-4363G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567899 | ||||||
| chr2:73567927
|
G | A | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.10385-4335G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73567927 | ||||||
| chr2:73568237
|
G | A | 24 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(21): Show | 24 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.10385-4025G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568237 | ||||||
| chr2:73568514
|
C | T | 41 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(38): Show | 41 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.10385-3748C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568514 | ||||||
| chr2:73568835
|
A | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-3427A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568835 | ||||||
| chr2:73568895
|
T | C | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.10385-3367T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568895 | ||||||
| chr2:73568907
|
C | T | 1 | a0001c0001t0001g0125 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.10385-3355C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568907 | ||||||
| chr2:73568988
|
T | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.10385-3274T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568988 | ||||||
| chr2:73568991
|
G | T | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.10385-3271G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568991 | ||||||
| chr2:73568994
|
T | G | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.10385-3268T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73568994 | ||||||
| chr2:73568995
|
C | CT | 45 | a0001c0001t0001g0095a0001c0001t0001g0124a0001c0001t0001g0130others(42): Show | 45 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(42): Show |
intron_variant | MODIFIER | c.10385-3230dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTT | 22 | a0001c0001t0001g0125a0001c0001t0001g0132a0001c0001t0001g0137others(19): Show | 22 | HG00642.hp1 HG01261.hp1 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.10385-3231_10385-3 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTTT | 6 | a0001c0001t0001g0126a0001c0001t0001g0141a0001c0001t0001g0174others(3): Show | 6 | HG01256.hp1 HG03540.hp2 NA18961.hp2 others(3): Show |
intron_variant | MODIFIER | c.10385-3232_10385-3 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTTTT | 5 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(2): Show | 5 | HG02451.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.10385-3233_10385-3 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTTTTTTT others(4): Show |
2 | a0008c0008t0001g0235a0027c0032t0001g0236 | 2 | HG02965.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.10385-3240_10385-3 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTTTTTTT others(5): Show |
1 | a0010c0009t0001g0184 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.10385-3241_10385-3 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
C | CTTTTTTT others(7): Show |
2 | a0003c0002t0001g0093a0010c0009t0001g0187 | 2 | HG00621.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.10385-3243_10385-3 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CT | C | 5 | a0002c0054t0001g0193a0010c0009t0001g0185a0011c0022t0001g0200others(2): Show | 5 | HG02572.hp1 HG02896.hp1 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.10385-3230delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTT | C | 7 | a0002c0023t0001g0195a0002c0023t0001g0196a0011c0022t0001g0199others(4): Show | 7 | HG02622.hp1 HG02647.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.10385-3231_10385-3 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTT | C | 10 | a0002c0004t0001g0031a0002c0004t0001g0034a0002c0004t0001g0052others(7): Show | 10 | HG01109.hp1 HG01167.hp1 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.10385-3235_10385-3 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT | C | 51 | a0002c0004t0001g0005a0002c0004t0001g0035a0002c0004t0001g0036others(48): Show | 51 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
intron_variant | MODIFIER | c.10385-3236_10385-3 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(1): Show |
C | 6 | a0002c0011t0001g0041a0002c0020t0001g0207a0002c0020t0001g0208others(3): Show | 6 | HG01975.hp1 HG02055.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.10385-3237_10385-3 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(5): Show |
C | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.10385-3241_10385-3 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(6): Show |
C | 6 | a0001c0001t0001g0186a0001c0066t0001g0135a0006c0007t0001g0099others(3): Show | 6 | HG01081.hp1 HG01081.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.10385-3242_10385-3 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(7): Show |
C | 6 | a0001c0001t0001g0136a0001c0001t0001g0218a0003c0002t0001g0013others(3): Show | 6 | HG01099.hp1 HG01106.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.10385-3243_10385-3 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(8): Show |
C | 27 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(24): Show | 27 | HG02698.hp2 HG03017.hp1 HG03225.hp2 others(24): Show |
intron_variant | MODIFIER | c.10385-3244_10385-3 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(9): Show |
C | 1 | a0040c0036t0001g0027 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.10385-3245_10385-3 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73568995
|
CTTTTTTT others(11): Show |
C | 1 | a0035c0050t0001g0246 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.10385-3247_10385-3 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73568995 | |||||
| chr2:73569002
|
T | C | 3 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.10385-3260T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569002 | ||||||
| chr2:73569046
|
G | T | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-3216G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569046 | ||||||
| chr2:73569102
|
C | T | 1 | a0007c0006t0001g0158 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.10385-3160C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569102 | ||||||
| chr2:73569366
|
G | C | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10385-2896G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569366 | ||||||
| chr2:73569796
|
A | G | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.10385-2466A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569796 | ||||||
| chr2:73569797
|
T | A | 128 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(125): Show | 128 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.10385-2465T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73569797 | ||||||
| chr2:73570238
|
C | T | 28 | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(25): Show | 28 | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(25): Show |
intron_variant | MODIFIER | c.10385-2024C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570238 | ||||||
| chr2:73570260
|
A | G | 1 | a0008c0008t0001g0233 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.10385-2002A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570260 | ||||||
| chr2:73570380
|
C | A | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-1882C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570380 | ||||||
| chr2:73570432
|
G | C | 1 | a0029c0056t0002g0087 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.10385-1830G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570432 | ||||||
| chr2:73570496
|
T | A | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-1766T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570496 | ||||||
| chr2:73570591
|
T | G | 1 | a0008c0008t0001g0234 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.10385-1671T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570591 | ||||||
| chr2:73570635
|
A | T | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-1627A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570635 | ||||||
| chr2:73570645
|
C | CCCAGTAG others(10): Show |
88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-1615_10385-1 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73570645 | |||||
| chr2:73570724
|
A | G | 1 | a0001c0001t0001g0175 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.10385-1538A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570724 | ||||||
| chr2:73570869
|
T | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-1393T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73570869 | ||||||
| chr2:73571043
|
A | G | 1 | a0001c0001t0001g0160 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.10385-1219A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571043 | ||||||
| chr2:73571096
|
A | G | 72 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(69): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.10385-1166A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571096 | ||||||
| chr2:73571349
|
T | C | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.10385-913T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571349 | ||||||
| chr2:73571469
|
C | G | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.10385-793C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571469 | ||||||
| chr2:73571787
|
A | C | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.10385-475A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571787 | ||||||
| chr2:73571804
|
T | A | 5 | a0011c0022t0001g0199a0011c0022t0001g0200a0011c0024t0001g0194others(2): Show | 5 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.10385-458T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571804 | ||||||
| chr2:73571908
|
T | TA | 13 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(10): Show | 13 | HG00735.hp1 HG02055.hp2 HG02056.hp1 others(10): Show |
intron_variant | MODIFIER | c.10385-344dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 73571908 | |||||
| chr2:73571958
|
G | A | 5 | a0001c0001t0001g0126a0001c0001t0001g0212a0007c0006t0001g0131others(2): Show | 5 | HG02056.hp2 NA18941.hp1 NA18969.hp1 others(2): Show |
intron_variant | MODIFIER | c.10385-304G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73571958 | ||||||
| chr2:73572023
|
C | A | 26 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(23): Show | 26 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(23): Show |
intron_variant | MODIFIER | c.10385-239C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | 73572023 | ||||||
| chr2:73573754
|
G | GT | 29 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(26): Show | 29 | HG00609.hp1 HG00609.hp2 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.11547+342dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73573754 | |||||
| chr2:73573754
|
GT | G | 155 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(152): Show | 155 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show |
intron_variant | MODIFIER | c.11547+342delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73573754 | |||||
| chr2:73573851
|
GT | G | 164 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(161): Show | 164 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(161): Show |
intron_variant | MODIFIER | c.11547+438delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73573851 | |||||
| chr2:73573903
|
G | A | 1 | a0004c0003t0002g0065 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.11547+479G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73573903 | ||||||
| chr2:73573980
|
G | A | 1 | a0010c0009t0001g0188 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.11547+556G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73573980 | ||||||
| chr2:73574007
|
G | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11547+583G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73574007 | ||||||
| chr2:73574507
|
A | T | 8 | a0002c0011t0001g0004a0002c0011t0001g0006a0002c0011t0001g0041others(5): Show | 8 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.11547+1083A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73574507 | ||||||
| chr2:73574692
|
A | G | 1 | a0001c0001t0004g0133 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.11547+1268A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73574692 | ||||||
| chr2:73574898
|
C | G | 1 | a0001c0001t0001g0137 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.11547+1474C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73574898 | ||||||
| chr2:73575051
|
T | A | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.11547+1627T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575051 | ||||||
| chr2:73575104
|
G | A | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.11547+1680G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575104 | ||||||
| chr2:73575157
|
TTATC | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.11547+1734_11547+1 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575157 | ||||||
| chr2:73575301
|
T | C | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11547+1877T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575301 | ||||||
| chr2:73575561
|
C | T | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.11547+2137C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575561 | ||||||
| chr2:73575565
|
G | A | 36 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.11547+2141G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73575565 | ||||||
| chr2:73575852
|
AT | A | 137 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(134): Show | 137 | HG00099.hp2 HG00280.hp2 HG00621.hp2 others(134): Show |
intron_variant | MODIFIER | c.11547+2438delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73575852 | |||||
| chr2:73576409
|
C | T | 2 | a0022c0028t0001g0009a0022c0028t0001g0010 | 2 | NA18950.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.11547+2985C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73576409 | ||||||
| chr2:73576624
|
CT | C | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.11547+3213delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73576624 | |||||
| chr2:73576624
|
CTT | C | 5 | a0002c0004t0001g0051a0002c0004t0001g0239a0002c0004t0001g0247others(2): Show | 5 | HG01243.hp1 HG02896.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.11547+3212_11547+3 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73576624 | |||||
| chr2:73576664
|
A | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.11547+3240A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73576664 | ||||||
| chr2:73576777
|
T | C | 2 | a0010c0009t0001g0185a0047c0061t0001g0183 | 2 | HG02257.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.11547+3353T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73576777 | ||||||
| chr2:73576912
|
T | C | 244 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0124others(241): Show | 244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.11547+3488T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73576912 | ||||||
| chr2:73577095
|
A | G | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.11547+3671A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73577095 | ||||||
| chr2:73577217
|
T | A | 29 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(26): Show | 29 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.11547+3793T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73577217 | ||||||
| chr2:73577264
|
T | A | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.11547+3840T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73577264 | ||||||
| chr2:73577581
|
A | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.11547+4157A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73577581 | ||||||
| chr2:73577624
|
G | T | 1 | a0003c0002t0001g0026 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.11547+4200G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73577624 | ||||||
| chr2:73578045
|
A | G | 93 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(90): Show | 93 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(90): Show |
intron_variant | MODIFIER | c.11547+4621A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578045 | ||||||
| chr2:73578078
|
G | C | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.11547+4654G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578078 | ||||||
| chr2:73578206
|
C | T | 1 | a0003c0002t0001g0023 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.11547+4782C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578206 | ||||||
| chr2:73578382
|
A | G | 1 | a0042c0034t0001g0025 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.11547+4958A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578382 | ||||||
| chr2:73578464
|
G | T | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.11547+5040G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578464 | ||||||
| chr2:73578576
|
A | G | 1 | a0053c0070t0001g0139 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.11547+5152A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578576 | ||||||
| chr2:73578699
|
C | G | 2 | a0002c0004t0001g0046a0002c0041t0001g0094 | 2 | HG01884.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.11547+5275C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578699 | ||||||
| chr2:73578906
|
AT | A | 5 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(2): Show | 5 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.11547+5483delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578906 | ||||||
| chr2:73578960
|
A | C | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11547+5536A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578960 | ||||||
| chr2:73578976
|
C | T | 2 | a0001c0001t0001g0137a0001c0001t0001g0248 | 2 | NA18961.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.11547+5552C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73578976 | ||||||
| chr2:73579063
|
C | CTTT | 10 | a0002c0004t0001g0239a0004c0003t0002g0066a0004c0003t0002g0067others(7): Show | 10 | HG01069.hp2 HG01070.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.11547+5644_11547+5 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTT | 50 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0035others(47): Show | 50 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.11547+5643_11547+5 others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTT | 21 | a0002c0004t0001g0036a0002c0004t0001g0052a0004c0003t0002g0073others(18): Show | 21 | HG00642.hp2 HG00735.hp1 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.11547+5642_11547+5 others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTT | 8 | a0002c0004t0001g0034a0002c0004t0001g0037a0002c0023t0001g0195others(5): Show | 8 | HG01891.hp2 HG01928.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.11547+5641_11547+5 others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(2): Show |
13 | a0003c0002t0001g0008a0003c0002t0001g0014a0003c0002t0001g0030others(10): Show | 13 | HG02257.hp2 HG02615.hp2 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(3): Show |
24 | a0002c0023t0001g0196a0003c0002t0001g0013a0003c0002t0001g0015others(21): Show | 24 | HG01106.hp2 HG01361.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(4): Show |
7 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0054t0001g0193others(4): Show | 7 | HG01192.hp1 HG02809.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(5): Show |
2 | a0002c0040t0001g0206a0003c0002t0001g0026 | 2 | HG02055.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(6): Show |
1 | a0040c0036t0001g0027 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.11547+5646_11547+5 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(7): Show |
4 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0021others(1): Show | 4 | HG00621.hp2 NA18941.hp2 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(8): Show |
4 | a0003c0002t0001g0023a0003c0002t0001g0028a0021c0029t0001g0119others(1): Show | 4 | NA18989.hp1 NA19000.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.11547+5646_11547+5 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(9): Show |
1 | a0021c0029t0001g0121 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.11547+5646_11547+5 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579063
|
C | CTTTTTTT others(11): Show |
1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.11547+5646_11547+5 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73579063 | |||||
| chr2:73579067
|
T | A | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.11547+5643T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579067 | ||||||
| chr2:73579071
|
A | T | 151 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(148): Show | 151 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.11547+5647A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579071 | ||||||
| chr2:73579075
|
A | T | 187 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0137others(184): Show | 187 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(184): Show |
intron_variant | MODIFIER | c.11547+5651A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579075 | ||||||
| chr2:73579080
|
T | A | 2 | a0001c0001t0001g0137a0001c0001t0001g0248 | 2 | NA18961.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.11547+5656T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579080 | ||||||
| chr2:73579094
|
A | C | 1 | a0007c0006t0001g0163 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.11547+5670A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579094 | ||||||
| chr2:73579116
|
A | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.11547+5692A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579116 | ||||||
| chr2:73579183
|
C | G | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.11547+5759C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579183 | ||||||
| chr2:73579287
|
C | T | 123 | a0001c0001t0001g0132a0002c0004t0001g0005a0002c0004t0001g0031others(120): Show | 123 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.11547+5863C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579287 | ||||||
| chr2:73579367
|
T | C | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.11547+5943T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579367 | ||||||
| chr2:73579368
|
T | C | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.11547+5944T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579368 | ||||||
| chr2:73579497
|
A | G | 1 | a0002c0040t0001g0206 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.11547+6073A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579497 | ||||||
| chr2:73579505
|
T | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+6081T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579505 | ||||||
| chr2:73579575
|
G | T | 1 | a0003c0002t0001g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.11547+6151G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579575 | ||||||
| chr2:73579594
|
A | T | 1 | a0055c0072t0001g0177 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.11547+6170A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579594 | ||||||
| chr2:73579612
|
G | A | 1 | a0003c0002t0001g0021 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.11547+6188G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579612 | ||||||
| chr2:73579745
|
G | A | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.11547+6321G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579745 | ||||||
| chr2:73579808
|
C | G | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11547+6384C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579808 | ||||||
| chr2:73579810
|
G | C | 1 | a0007c0006t0001g0173 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.11547+6386G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579810 | ||||||
| chr2:73579896
|
G | A | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.11547+6472G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73579896 | ||||||
| chr2:73580476
|
T | A | 1 | a0017c0017t0003g0225 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.11547+7052T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73580476 | ||||||
| chr2:73580670
|
A | C | 1 | a0006c0010t0001g0096 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.11547+7246A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73580670 | ||||||
| chr2:73580881
|
G | A | 1 | a0001c0001t0001g0001 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.11547+7457G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73580881 | ||||||
| chr2:73580884
|
C | T | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.11547+7460C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73580884 | ||||||
| chr2:73581180
|
A | G | 17 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(14): Show | 17 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.11547+7756A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73581180 | ||||||
| chr2:73581501
|
C | A | 1 | a0020c0019t0002g0090 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.11547+8077C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73581501 | ||||||
| chr2:73581524
|
A | G | 12 | a0002c0054t0001g0193a0011c0022t0001g0199a0011c0022t0001g0200others(9): Show | 12 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.11547+8100A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73581524 | ||||||
| chr2:73581646
|
T | G | 88 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.11547+8222T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73581646 | ||||||
| chr2:73581752
|
CT | C | 11 | a0006c0007t0001g0229a0008c0008t0001g0231a0008c0008t0001g0232others(8): Show | 11 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.11547+8342delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73581752 | |||||
| chr2:73581988
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11547+8564C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73581988 | ||||||
| chr2:73582153
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.11547+8729A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582153 | ||||||
| chr2:73582495
|
C | T | 1 | a0002c0011t0001g0042 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.11547+9071C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582495 | ||||||
| chr2:73582514
|
GAAC | G | 26 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(23): Show | 26 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(23): Show |
intron_variant | MODIFIER | c.11547+9097_11547+9 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73582514 | |||||
| chr2:73582537
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11547+9113G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582537 | ||||||
| chr2:73582629
|
T | C | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11547+9205T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582629 | ||||||
| chr2:73582684
|
T | G | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11547+9260T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582684 | ||||||
| chr2:73582700
|
T | C | 1 | a0003c0002t0001g0093 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.11547+9276T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582700 | ||||||
| chr2:73582847
|
C | T | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+9423C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73582847 | ||||||
| chr2:73583008
|
G | T | 1 | a0020c0019t0002g0075 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.11547+9584G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583008 | ||||||
| chr2:73583040
|
G | GT | 84 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.11547+9628dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73583040 | |||||
| chr2:73583196
|
C | G | 1 | a0041c0035t0001g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.11547+9772C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583196 | ||||||
| chr2:73583196
|
CT | C | 85 | a0001c0001t0004g0133a0002c0004t0001g0005a0002c0004t0001g0031others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+9786delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73583196 | |||||
| chr2:73583753
|
G | A | 2 | a0006c0007t0001g0099a0006c0007t0001g0100 | 2 | HG01099.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.11547+10329G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583753 | ||||||
| chr2:73583770
|
G | A | 1 | a0020c0019t0002g0075 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.11547+10346G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583770 | ||||||
| chr2:73583782
|
T | G | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+10358T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583782 | ||||||
| chr2:73583854
|
C | G | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+10430C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583854 | ||||||
| chr2:73583986
|
T | A | 1 | a0007c0006t0001g0211 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.11547+10562T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73583986 | ||||||
| chr2:73584112
|
G | A | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11547+10688G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584112 | ||||||
| chr2:73584116
|
G | A | 1 | a0002c0004t0001g0033 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.11547+10692G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584116 | ||||||
| chr2:73584216
|
C | G | 17 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(14): Show | 17 | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.11547+10792C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584216 | ||||||
| chr2:73584284
|
A | G | 4 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.11547+10860A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584284 | ||||||
| chr2:73584609
|
T | C | 1 | a0054c0069t0001g0162 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.11547+11185T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584609 | ||||||
| chr2:73584753
|
T | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+11329T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584753 | ||||||
| chr2:73584781
|
G | C | 121 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(118): Show | 121 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.11547+11357G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584781 | ||||||
| chr2:73584994
|
A | G | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.11547+11570A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73584994 | ||||||
| chr2:73585088
|
G | C | 24 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(21): Show | 24 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.11547+11664G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585088 | ||||||
| chr2:73585273
|
G | A | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.11547+11849G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585273 | ||||||
| chr2:73585392
|
C | CT | 17 | a0001c0001t0001g0124a0001c0001t0001g0167a0001c0001t0001g0179others(14): Show | 17 | HG00609.hp2 HG01884.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.11547+11987dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585392 | |||||
| chr2:73585392
|
CTT | C | 81 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(78): Show | 81 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(78): Show |
intron_variant | MODIFIER | c.11547+11986_11547+ others(10): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585392 | |||||
| chr2:73585496
|
A | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+12072A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585496 | ||||||
| chr2:73585726
|
C | CTTTTTT | 73 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(70): Show | 73 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.11547+12312_11547+ others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585726 | |||||
| chr2:73585726
|
C | CTTTTTTT | 7 | a0004c0003t0002g0069a0004c0043t0002g0082a0012c0012t0001g0202others(4): Show | 7 | HG01256.hp2 HG01361.hp1 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.11547+12311_11547+ others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585726 | |||||
| chr2:73585726
|
C | CTTTTTTT others(2): Show |
33 | a0001c0001t0001g0178a0002c0020t0001g0208a0003c0002t0001g0008others(30): Show | 33 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(30): Show |
intron_variant | MODIFIER | c.11547+12309_11547+ others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585726 | |||||
| chr2:73585726
|
C | CTTTTTTT others(3): Show |
9 | a0002c0020t0001g0207a0002c0040t0001g0206a0003c0002t0001g0013others(6): Show | 9 | HG02055.hp1 HG02071.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.11547+12308_11547+ others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585726 | |||||
| chr2:73585726
|
C | CTTTTTTT others(4): Show |
1 | a0003c0002t0001g0029 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.11547+12307_11547+ others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73585726 | |||||
| chr2:73585759
|
G | A | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+12335G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585759 | ||||||
| chr2:73585797
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11547+12373C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585797 | ||||||
| chr2:73585822
|
G | A | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.11547+12398G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585822 | ||||||
| chr2:73585825
|
T | G | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.11547+12401T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585825 | ||||||
| chr2:73585861
|
C | T | 121 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(118): Show | 121 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.11547+12437C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73585861 | ||||||
| chr2:73586023
|
A | G | 1 | a0001c0001t0001g0178 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.11547+12599A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586023 | ||||||
| chr2:73586093
|
C | T | 2 | a0005c0005t0001g0115a0005c0005t0001g0116 | 2 | HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.11547+12669C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586093 | ||||||
| chr2:73586183
|
G | A | 36 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.11547+12759G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586183 | ||||||
| chr2:73586203
|
G | A | 1 | a0005c0005t0001g0109 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.11547+12779G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586203 | ||||||
| chr2:73586305
|
C | T | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11547+12881C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586305 | ||||||
| chr2:73586327
|
A | G | 1 | a0002c0041t0001g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.11547+12903A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586327 | ||||||
| chr2:73586327
|
A | T | 1 | a0019c0018t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.11547+12903A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586327 | ||||||
| chr2:73586414
|
A | T | 1 | a0004c0003t0002g0084 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.11548-12987A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586414 | ||||||
| chr2:73586495
|
G | A | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.11548-12906G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586495 | ||||||
| chr2:73586685
|
G | C | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.11548-12716G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586685 | ||||||
| chr2:73586693
|
G | A | 129 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.11548-12708G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586693 | ||||||
| chr2:73586818
|
A | G | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-12583A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586818 | ||||||
| chr2:73586997
|
G | GT | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.11548-12395dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73586997 | |||||
| chr2:73586998
|
T | G | 5 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.11548-12403T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73586998 | ||||||
| chr2:73587003
|
T | G | 5 | a0012c0012t0001g0202a0012c0012t0001g0203a0012c0012t0001g0204others(2): Show | 5 | HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.11548-12398T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587003 | ||||||
| chr2:73587004
|
TTTG | T | 40 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(37): Show | 40 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(37): Show |
intron_variant | MODIFIER | c.11548-12394_11548- others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73587004 | |||||
| chr2:73587091
|
G | A | 44 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(41): Show | 44 | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.11548-12310G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587091 | ||||||
| chr2:73587206
|
G | A | 129 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.11548-12195G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587206 | ||||||
| chr2:73587304
|
G | A | 1 | a0006c0010t0001g0097 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.11548-12097G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587304 | ||||||
| chr2:73587320
|
A | T | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.11548-12081A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587320 | ||||||
| chr2:73587396
|
A | G | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.11548-12005A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587396 | ||||||
| chr2:73587536
|
A | G | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.11548-11865A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587536 | ||||||
| chr2:73587556
|
T | G | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.11548-11845T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587556 | ||||||
| chr2:73587611
|
A | T | 2 | a0001c0001t0001g0125a0001c0001t0001g0143 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.11548-11790A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73587611 | ||||||
| chr2:73588142
|
G | A | 1 | a0019c0018t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.11548-11259G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588142 | ||||||
| chr2:73588201
|
G | A | 122 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(119): Show | 122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.11548-11200G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588201 | ||||||
| chr2:73588315
|
A | C | 1 | a0001c0001t0001g0144 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.11548-11086A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588315 | ||||||
| chr2:73588367
|
GTGCCCCA others(2): Show |
G | 37 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.11548-11025_11548- others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73588367 | |||||
| chr2:73588629
|
G | A | 1 | a0007c0006t0001g0122 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.11548-10772G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588629 | ||||||
| chr2:73588668
|
G | A | 11 | a0002c0054t0001g0193a0011c0022t0001g0199a0011c0022t0001g0200others(8): Show | 11 | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.11548-10733G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588668 | ||||||
| chr2:73588963
|
A | G | 1 | a0059c0076t0001g0003 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.11548-10438A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73588963 | ||||||
| chr2:73589148
|
A | G | 10 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(7): Show | 10 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.11548-10253A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589148 | ||||||
| chr2:73589158
|
A | G | 130 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(127): Show | 130 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.11548-10243A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589158 | ||||||
| chr2:73589160
|
G | A | 1 | a0007c0006t0001g0142 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.11548-10241G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589160 | ||||||
| chr2:73589174
|
T | G | 10 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(7): Show | 10 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.11548-10227T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589174 | ||||||
| chr2:73589226
|
A | ATGTT | 155 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(152): Show | 155 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show |
intron_variant | MODIFIER | c.11548-10175_11548- others(12): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589226 | ||||||
| chr2:73589356
|
G | T | 7 | a0002c0054t0001g0193a0011c0022t0001g0199a0011c0022t0001g0200others(4): Show | 7 | HG02622.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.11548-10045G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589356 | ||||||
| chr2:73589592
|
C | T | 1 | a0015c0015t0001g0190 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.11548-9809C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589592 | ||||||
| chr2:73589828
|
G | A | 125 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(122): Show | 125 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.11548-9573G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589828 | ||||||
| chr2:73589888
|
C | T | 36 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.11548-9513C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73589888 | ||||||
| chr2:73590111
|
G | A | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-9290G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590111 | ||||||
| chr2:73590116
|
A | G | 1 | a0004c0003t0002g0091 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.11548-9285A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590116 | ||||||
| chr2:73590158
|
A | G | 1 | a0003c0002t0001g0012 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.11548-9243A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590158 | ||||||
| chr2:73590163
|
C | A | 1 | a0007c0006t0001g0152 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.11548-9238C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590163 | ||||||
| chr2:73590265
|
T | C | 1 | a0011c0048t0001g0197 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.11548-9136T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590265 | ||||||
| chr2:73590306
|
A | G | 1 | a0024c0030t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.11548-9095A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590306 | ||||||
| chr2:73590540
|
C | T | 1 | a0002c0054t0001g0193 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11548-8861C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590540 | ||||||
| chr2:73590594
|
T | C | 1 | a0003c0002t0001g0017 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.11548-8807T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590594 | ||||||
| chr2:73590677
|
C | CT | 38 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0134others(35): Show | 38 | HG00323.hp2 HG00609.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.11548-8702dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73590677 | |||||
| chr2:73590686
|
T | TG | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.11548-8715_11548-8 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590686 | ||||||
| chr2:73590694
|
T | G | 15 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(12): Show | 15 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(12): Show |
intron_variant | MODIFIER | c.11548-8707T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590694 | ||||||
| chr2:73590694
|
T | TG | 10 | a0006c0007t0001g0098a0006c0007t0001g0101a0006c0007t0001g0102others(7): Show | 10 | HG01884.hp2 HG01891.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.11548-8707_11548-8 others(7): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590694 | ||||||
| chr2:73590747
|
C | T | 1 | a0006c0007t0001g0101 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.11548-8654C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590747 | ||||||
| chr2:73590820
|
A | T | 12 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.11548-8581A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590820 | ||||||
| chr2:73590955
|
C | T | 1 | a0001c0001t0001g0002 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.11548-8446C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590955 | ||||||
| chr2:73590968
|
G | A | 2 | a0001c0001t0001g0137a0001c0001t0001g0248 | 2 | NA18961.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.11548-8433G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73590968 | ||||||
| chr2:73591049
|
A | G | 1 | a0002c0004t0001g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.11548-8352A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591049 | ||||||
| chr2:73591271
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11548-8130A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591271 | ||||||
| chr2:73591455
|
A | G | 2 | a0002c0004t0001g0051a0002c0004t0001g0052 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.11548-7946A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591455 | ||||||
| chr2:73591580
|
C | T | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-7821C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591580 | ||||||
| chr2:73591663
|
C | A | 36 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.11548-7738C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591663 | ||||||
| chr2:73591789
|
A | G | 2 | a0006c0007t0001g0099a0006c0007t0001g0100 | 2 | HG01099.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.11548-7612A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591789 | ||||||
| chr2:73591809
|
G | A | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-7592G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591809 | ||||||
| chr2:73591901
|
G | C | 30 | a0001c0001t0001g0157a0004c0003t0002g0064a0004c0003t0002g0065others(27): Show | 30 | HG00099.hp1 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.11548-7500G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73591901 | ||||||
| chr2:73592020
|
T | G | 4 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.11548-7381T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73592020 | ||||||
| chr2:73592141
|
A | C | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.11548-7260A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73592141 | ||||||
| chr2:73592203
|
A | G | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.11548-7198A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73592203 | ||||||
| chr2:73592580
|
T | C | 1 | a0007c0006t0001g0158 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.11548-6821T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73592580 | ||||||
| chr2:73592981
|
G | C | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-6420G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73592981 | ||||||
| chr2:73593023
|
A | G | 2 | a0004c0003t0002g0068a0004c0003t0002g0071 | 2 | HG01952.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.11548-6378A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593023 | ||||||
| chr2:73593031
|
C | G | 2 | a0002c0004t0001g0247a0032c0046t0001g0230 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.11548-6370C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593031 | ||||||
| chr2:73593112
|
A | AGAG | 206 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.11548-6288_11548-6 others(9): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73593112 | |||||
| chr2:73593170
|
C | T | 8 | a0006c0010t0001g0096a0006c0010t0001g0097a0006c0010t0001g0103others(5): Show | 8 | HG01884.hp2 HG01891.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.11548-6231C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593170 | ||||||
| chr2:73593189
|
AG | A | 4 | a0002c0004t0001g0031a0002c0011t0001g0004a0020c0019t0002g0090others(1): Show | 4 | HG00099.hp2 HG01243.hp1 HG02735.hp2 others(1): Show |
intron_variant | MODIFIER | c.11548-6210delG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73593189 | |||||
| chr2:73593191
|
G | A | 80 | a0002c0004t0001g0005a0002c0004t0001g0033a0002c0004t0001g0034others(77): Show | 80 | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(77): Show |
intron_variant | MODIFIER | c.11548-6210G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593191 | ||||||
| chr2:73593421
|
G | A | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11548-5980G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593421 | ||||||
| chr2:73593699
|
C | A | 1 | a0010c0009t0001g0185 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.11548-5702C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593699 | ||||||
| chr2:73593782
|
C | T | 3 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.11548-5619C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593782 | ||||||
| chr2:73593886
|
A | T | 1 | a0057c0075t0001g0215 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.11548-5515A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73593886 | ||||||
| chr2:73594208
|
A | G | 13 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.11548-5193A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594208 | ||||||
| chr2:73594252
|
G | GAC | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-5148_11548-5 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73594252 | |||||
| chr2:73594254
|
T | G | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-5147T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594254 | ||||||
| chr2:73594255
|
T | A | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-5146T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594255 | ||||||
| chr2:73594257
|
T | A | 85 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.11548-5144T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594257 | ||||||
| chr2:73594860
|
T | A | 1 | a0025c0031t0001g0226 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11548-4541T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594860 | ||||||
| chr2:73594920
|
C | A | 1 | a0013c0014t0001g0129 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.11548-4481C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73594920 | ||||||
| chr2:73595120
|
C | T | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.11548-4281C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73595120 | ||||||
| chr2:73595569
|
T | G | 10 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(7): Show | 10 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.11548-3832T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73595569 | ||||||
| chr2:73595586
|
C | T | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.11548-3815C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73595586 | ||||||
| chr2:73595875
|
C | G | 2 | a0001c0001t0001g0153a0001c0001t0001g0160 | 2 | HG03017.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.11548-3526C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73595875 | ||||||
| chr2:73596152
|
G | A | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11548-3249G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596152 | ||||||
| chr2:73596276
|
G | A | 36 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.11548-3125G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596276 | ||||||
| chr2:73596494
|
C | G | 1 | a0004c0003t0002g0064 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.11548-2907C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596494 | ||||||
| chr2:73596495
|
G | A | 24 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(21): Show | 24 | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.11548-2906G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596495 | ||||||
| chr2:73596519
|
G | T | 32 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(29): Show | 32 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.11548-2882G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596519 | ||||||
| chr2:73596558
|
G | C | 1 | a0002c0004t0001g0247 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.11548-2843G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596558 | ||||||
| chr2:73596652
|
AG | A | 25 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0137others(22): Show | 25 | HG00609.hp1 HG01169.hp2 HG01256.hp1 others(22): Show |
intron_variant | MODIFIER | c.11548-2748delG | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596652 | ||||||
| chr2:73596739
|
G | A | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.11548-2662G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596739 | ||||||
| chr2:73596860
|
C | CT | 151 | a0001c0001t0001g0002a0001c0001t0001g0095a0001c0001t0001g0124others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(148): Show |
intron_variant | MODIFIER | c.11548-2523dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73596860 | |||||
| chr2:73596860
|
C | CTT | 8 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0219others(5): Show | 8 | HG01192.hp2 HG02622.hp2 HG02683.hp1 others(5): Show |
intron_variant | MODIFIER | c.11548-2524_11548-2 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73596860 | |||||
| chr2:73596860
|
CT | C | 14 | a0003c0002t0001g0059a0005c0005t0001g0106a0005c0005t0001g0107others(11): Show | 14 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.11548-2523delT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | 73596860 | |||||
| chr2:73596874
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11548-2527T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596874 | ||||||
| chr2:73596879
|
C | T | 3 | a0002c0004t0001g0046a0017c0017t0003g0224a0017c0017t0003g0225 | 3 | HG01884.hp1 HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.11548-2522C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73596879 | ||||||
| chr2:73597017
|
G | A | 34 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(31): Show | 34 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(31): Show |
intron_variant | MODIFIER | c.11548-2384G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597017 | ||||||
| chr2:73597037
|
T | C | 8 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.11548-2364T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597037 | ||||||
| chr2:73597173
|
T | G | 1 | a0029c0056t0002g0087 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.11548-2228T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597173 | ||||||
| chr2:73597246
|
T | A | 94 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(91): Show | 94 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.11548-2155T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597246 | ||||||
| chr2:73597283
|
C | T | 1 | a0052c0071t0001g0140 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.11548-2118C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597283 | ||||||
| chr2:73597837
|
A | G | 2 | a0001c0001t0001g0167a0001c0001t0001g0186 | 2 | HG01081.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.11548-1564A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597837 | ||||||
| chr2:73597840
|
A | G | 3 | a0016c0016t0001g0220a0016c0016t0005g0222a0042c0034t0001g0025 | 3 | NA18945.hp1 NA18947.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.11548-1561A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597840 | ||||||
| chr2:73597937
|
T | C | 2 | a0017c0017t0003g0224a0017c0017t0003g0225 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.11548-1464T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73597937 | ||||||
| chr2:73598057
|
A | G | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11548-1344A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598057 | ||||||
| chr2:73598061
|
A | C | 4 | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0186others(1): Show | 4 | HG00738.hp2 HG01081.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.11548-1340A>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598061 | ||||||
| chr2:73598163
|
A | G | 1 | a0017c0017t0003g0224 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.11548-1238A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598163 | ||||||
| chr2:73598500
|
C | G | 1 | a0003c0002t0001g0024 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.11548-901C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598500 | ||||||
| chr2:73598636
|
A | G | 3 | a0006c0007t0001g0098a0006c0007t0001g0101a0006c0007t0001g0102 | 3 | HG02145.hp1 HG02630.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.11548-765A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598636 | ||||||
| chr2:73598643
|
A | G | 199 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(196): Show | 199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.11548-758A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598643 | ||||||
| chr2:73598671
|
C | A | 1 | a0044c0064t0001g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.11548-730C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598671 | ||||||
| chr2:73598857
|
C | A | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.11548-544C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598857 | ||||||
| chr2:73598930
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11548-471C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598930 | ||||||
| chr2:73598981
|
C | T | 1 | a0034c0049t0001g0039 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.11548-420C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73598981 | ||||||
| chr2:73599081
|
G | A | 1 | a0001c0001t0001g0186 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.11548-320G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73599081 | ||||||
| chr2:73599298
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11548-103G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73599298 | ||||||
| chr2:73599362
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11548-39C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | 73599362 | ||||||
| chr2:73599597
|
A | G | 1 | a0004c0003t0002g0074 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.11668+76A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599597 | ||||||
| chr2:73599640
|
A | G | 9 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(6): Show | 9 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.11668+119A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599640 | ||||||
| chr2:73599738
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11668+217A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599738 | ||||||
| chr2:73599951
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11668+430G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599951 | ||||||
| chr2:73599972
|
T | G | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(103): Show | 106 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.11668+451T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599972 | ||||||
| chr2:73599990
|
A | G | 94 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(91): Show | 94 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.11668+469A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73599990 | ||||||
| chr2:73600130
|
G | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11669-548G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600130 | ||||||
| chr2:73600149
|
G | A | 1 | a0033c0055t0001g0201 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.11669-529G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600149 | ||||||
| chr2:73600329
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11669-349C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600329 | ||||||
| chr2:73600414
|
T | C | 1 | a0001c0001t0001g0001 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.11669-264T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600414 | ||||||
| chr2:73600433
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11669-245C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600433 | ||||||
| chr2:73600443
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11669-235T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600443 | ||||||
| chr2:73600450
|
C | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11669-228C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 17/22 | chr2 | 73600450 | ||||||
| chr2:73601089
|
C | T | 1 | a0010c0009t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.11873-106C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 18/22 | chr2 | 73601089 | ||||||
| chr2:73601121
|
A | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.11873-74A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 18/22 | chr2 | 73601121 | ||||||
| chr2:73601183
|
T | C | 105 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(102): Show | 105 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(102): Show |
intron_variant | MODIFIER | c.11873-12T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 18/22 | chr2 | 73601183 | ||||||
| chr2:73601468
|
C | T | 2 | a0035c0050t0001g0246a0045c0063t0001g0191 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.12114+32C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73601468 | ||||||
| chr2:73601580
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12114+144C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73601580 | ||||||
| chr2:73601672
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12114+236G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73601672 | ||||||
| chr2:73601975
|
T | A | 1 | a0002c0004t0001g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.12115-210T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73601975 | ||||||
| chr2:73602066
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12115-119C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73602066 | ||||||
| chr2:73602085
|
C | T | 4 | a0004c0003t0002g0072a0004c0003t0002g0073a0004c0003t0002g0081others(1): Show | 4 | HG01167.hp1 HG01169.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.12115-100C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73602085 | ||||||
| chr2:73602090
|
A | G | 2 | a0008c0008t0001g0231a0008c0008t0001g0232 | 2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.12115-95A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73602090 | ||||||
| chr2:73602120
|
C | T | 1 | a0001c0001t0001g0218 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.12115-65C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 19/22 | chr2 | 73602120 | ||||||
| chr2:73602427
|
C | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12298+59C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/22 | chr2 | 73602427 | ||||||
| chr2:73602551
|
C | T | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.12298+183C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/22 | chr2 | 73602551 | ||||||
| chr2:73602971
|
C | G | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.12299-270C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/22 | chr2 | 73602971 | ||||||
| chr2:73603034
|
G | T | 3 | a0003c0002t0001g0013a0003c0002t0001g0014a0003c0002t0001g0015 | 3 | HG02071.hp2 NA18947.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.12299-207G>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 20/22 | chr2 | 73603034 | ||||||
| chr2:73603327
|
A | T | 33 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(30): Show | 33 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.12362+23A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603327 | ||||||
| chr2:73603328
|
C | T | 33 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(30): Show | 33 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.12362+24C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603328 | ||||||
| chr2:73603331
|
A | G | 33 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(30): Show | 33 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.12362+27A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603331 | ||||||
| chr2:73603361
|
C | T | 9 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(6): Show | 9 | HG00735.hp1 HG02055.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.12362+57C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603361 | ||||||
| chr2:73603399
|
C | G | 1 | a0005c0005t0001g0114 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.12362+95C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603399 | ||||||
| chr2:73603454
|
G | GA | 85 | a0001c0001t0001g0153a0001c0001t0001g0160a0002c0004t0001g0005others(82): Show | 85 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.12362+162dupA | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 73603454 | |||||
| chr2:73603485
|
G | A | 1 | a0001c0001t0001g0174 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.12362+181G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603485 | ||||||
| chr2:73603595
|
C | T | 1 | a0004c0003t0002g0077 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.12362+291C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603595 | ||||||
| chr2:73603682
|
A | G | 3 | a0003c0002t0001g0059a0003c0002t0001g0060a0003c0002t0001g0061 | 3 | NA18954.hp2 NA18985.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.12362+378A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603682 | ||||||
| chr2:73603859
|
C | T | 1 | a0038c0051t0001g0210 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.12362+555C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603859 | ||||||
| chr2:73603910
|
A | G | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.12362+606A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603910 | ||||||
| chr2:73603932
|
A | T | 1 | a0043c0062t0001g0120 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.12362+628A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73603932 | ||||||
| chr2:73604020
|
A | T | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.12362+716A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604020 | ||||||
| chr2:73604024
|
C | T | 2 | a0002c0004t0001g0046a0002c0041t0001g0094 | 2 | HG01884.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12362+720C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604024 | ||||||
| chr2:73604184
|
T | C | 1 | a0002c0052t0001g0040 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.12362+880T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604184 | ||||||
| chr2:73604231
|
C | T | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.12362+927C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604231 | ||||||
| chr2:73604282
|
T | C | 1 | a0045c0063t0001g0191 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.12362+978T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604282 | ||||||
| chr2:73604288
|
C | T | 1 | a0003c0002t0001g0026 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.12362+984C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604288 | ||||||
| chr2:73604382
|
A | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.12362+1078A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604382 | ||||||
| chr2:73604491
|
A | G | 14 | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.12362+1187A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604491 | ||||||
| chr2:73604587
|
T | G | 5 | a0001c0001t0001g0171a0001c0001t0001g0175a0001c0001t0001g0176others(2): Show | 5 | HG00323.hp2 HG01192.hp2 HG01257.hp2 others(2): Show |
intron_variant | MODIFIER | c.12362+1283T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604587 | ||||||
| chr2:73604690
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.12362+1386G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604690 | ||||||
| chr2:73604713
|
T | C | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.12362+1409T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604713 | ||||||
| chr2:73604844
|
C | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1540C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604844 | ||||||
| chr2:73604898
|
G | A | 2 | a0005c0058t0001g0110a0007c0006t0001g0163 | 2 | HG01943.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.12362+1594G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604898 | ||||||
| chr2:73604997
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1693G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73604997 | ||||||
| chr2:73605012
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1708T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605012 | ||||||
| chr2:73605066
|
T | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1762T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605066 | ||||||
| chr2:73605086
|
C | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1782C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605086 | ||||||
| chr2:73605164
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1860G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605164 | ||||||
| chr2:73605165
|
G | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1861G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605165 | ||||||
| chr2:73605169
|
G | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1865G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605169 | ||||||
| chr2:73605239
|
A | T | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1935A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605239 | ||||||
| chr2:73605245
|
A | G | 1 | a0005c0005t0001g0114 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.12362+1941A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605245 | ||||||
| chr2:73605261
|
T | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1957T>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605261 | ||||||
| chr2:73605278
|
C | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+1974C>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605278 | ||||||
| chr2:73605332
|
T | C | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(103): Show | 106 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.12362+2028T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605332 | ||||||
| chr2:73605544
|
T | C | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12362+2240T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605544 | ||||||
| chr2:73605659
|
C | T | 83 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(80): Show | 83 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.12362+2355C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605659 | ||||||
| chr2:73605705
|
T | C | 12 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(9): Show | 12 | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(9): Show |
intron_variant | MODIFIER | c.12362+2401T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605705 | ||||||
| chr2:73605880
|
T | C | 1 | a0001c0001t0001g0159 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.12362+2576T>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73605880 | ||||||
| chr2:73606156
|
C | T | 118 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(115): Show | 118 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(115): Show |
intron_variant | MODIFIER | c.12363-2319C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606156 | ||||||
| chr2:73606304
|
G | A | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.12363-2171G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606304 | ||||||
| chr2:73606612
|
G | A | 116 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(113): Show | 116 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.12363-1863G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606612 | ||||||
| chr2:73606907
|
A | G | 83 | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(80): Show | 83 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.12363-1568A>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606907 | ||||||
| chr2:73606908
|
T | G | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.12363-1567T>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606908 | ||||||
| chr2:73606957
|
C | T | 192 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show |
intron_variant | MODIFIER | c.12363-1518C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73606957 | ||||||
| chr2:73607123
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.12363-1352C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73607123 | ||||||
| chr2:73607124
|
G | A | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12363-1351G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73607124 | ||||||
| chr2:73607282
|
A | T | 2 | a0010c0009t0001g0168a0010c0009t0001g0169 | 2 | HG01192.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.12363-1193A>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73607282 | ||||||
| chr2:73607686
|
G | A | 1 | a0002c0004t0001g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.12363-789G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73607686 | ||||||
| chr2:73607810
|
A | AT | 10 | a0001c0001t0001g0154a0001c0001t0001g0175a0003c0002t0001g0059others(7): Show | 10 | HG01175.hp2 HG01192.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.12363-647dupT | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 73607810 | |||||
| chr2:73607810
|
A | ATTTTTTT others(5): Show |
2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12363-658_12363-64 others(16): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 73607810 | |||||
| chr2:73608199
|
CATTT | C | 7 | a0003c0002t0001g0011a0003c0002t0001g0012a0003c0002t0001g0017others(4): Show | 7 | HG03017.hp1 NA18941.hp2 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.12363-273_12363-27 others(8): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 73608199 | |||||
| chr2:73608208
|
C | G | 2 | a0024c0030t0001g0227a0025c0031t0001g0226 | 2 | HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12363-267C>G | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73608208 | ||||||
| chr2:73608361
|
G | C | 4 | a0001c0001t0001g0213a0051c0068t0001g0128a0053c0070t0001g0139others(1): Show | 4 | HG03654.hp2 HG03688.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.12363-114G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | chr2 | 73608361 | ||||||
| chr2:73608677
|
C | T | 1 | a0004c0053t0002g0050 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.12462+103C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 22/22 | chr2 | 73608677 | ||||||
| chr2:73608779
|
G | C | 6 | a0009c0013t0001g0240a0009c0013t0001g0242a0009c0013t0001g0244others(3): Show | 6 | HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.12462+205G>C | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 22/22 | chr2 | 73608779 | ||||||
| chr2:73609046
|
G | A | 1 | a0003c0002t0001g0022 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.12462+472G>A | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 22/22 | chr2 | 73609046 | ||||||
| chr2:73609267
|
C | T | 1 | a0019c0018t0001g0057 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.12463-301C>T | ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 22/22 | chr2 | 73609267 |