Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 23530 |
|---|---|
| ensemblid | ENSG00000112992.18 |
| hgncid | 7863 |
| symbol | NNT |
| name | nicotinamide nucleotide transhydrogenase |
| refseq_nuc | NM_182977.3 |
| refseq_prot | NP_892022.2 |
| ensembl_nuc | ENST00000344920.9 |
| ensembl_prot | ENSP00000343873.4 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 43603180 |
| end | 43707396 |
| strand | + |
| ver | v1.2 |
| region | chr5:43603180-43707396 |
| region5000 | chr5:43598180-43712396 |
| regionname0 | NNT_chr5_43603180_43707396 |
| regionname5000 | NNT_chr5_43598180_43712396 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1086 | 151 | 68 | 29 | 28 | 2 | 22 | 19 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002 | 0/0 | 1086 | 23 | 0 | 3 | 16 | 0 | 4 | 12 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0003 | 0/0 | 1086 | 6 | 0 | 0 | 3 | 0 | 3 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0004 | 0/0 | 1086 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0005 | 0/0 | 1086 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0006 | 0/0 | 1086 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0007 | 0/0 | 1086 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0008 | 0/0 | 1086 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0009 | 0/0 | 1086 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 3261 | 81 | 45 | 19 | 4 | 1 | 12 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0002 | 1/1 | 3261 | 47 | 5 | 8 | 24 | 1 | 7 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0003 | 0/0 | 3261 | 22 | 0 | 3 | 15 | 0 | 4 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0004 | 0/0 | 3261 | 17 | 13 | 1 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0005 | 0/0 | 3261 | 5 | 4 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0006 | 0/0 | 3261 | 5 | 0 | 0 | 3 | 0 | 2 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0007 | 0/0 | 3261 | 2 | 2 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0008 | 0/0 | 3261 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0009 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0010 | 0/0 | 3261 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0011 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0012 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0013 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0014 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0015 | 0/0 | 3261 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| c0016 | 0/0 | 3261 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 3161 | 71 | 34 | 8 | 21 | 0 | 6 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0002 | 0/0 | 3167 | 19 | 0 | 3 | 12 | 0 | 4 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0003 | 0/0 | 3161 | 18 | 1 | 7 | 4 | 0 | 6 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0004 | 0/0 | 3166 | 15 | 11 | 1 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0005 | 0/0 | 3161 | 14 | 5 | 2 | 3 | 0 | 4 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0006 | 0/0 | 3166 | 9 | 5 | 3 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0007 | 0/0 | 3167 | 5 | 4 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0008 | 0/0 | 3161 | 5 | 0 | 2 | 0 | 1 | 2 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0009 | 0/0 | 3162 | 4 | 0 | 1 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0010 | 0/0 | 3166 | 4 | 4 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0011 | 0/0 | 3167 | 2 | 0 | 0 | 2 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0012 | 0/0 | 3167 | 2 | 0 | 0 | 2 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0013 | 0/0 | 3169 | 2 | 0 | 0 | 2 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0014 | 0/0 | 3166 | 2 | 2 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0015 | 0/0 | 3163 | 2 | 1 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0016 | 0/0 | 3166 | 2 | 1 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0017 | 0/0 | 3161 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0018 | 0/0 | 3167 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0019 | 0/0 | 3163 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0020 | 0/0 | 3160 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0021 | 0/0 | 3160 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0022 | 0/0 | 3160 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0023 | 0/0 | 3166 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0024 | 0/0 | 3161 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0025 | 0/0 | 3165 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0026 | 0/0 | 3167 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0027 | 0/0 | 3161 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| t0028 | 0/0 | 3163 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0162 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0175 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 3261 | 81 | 45 | 19 | 4 | 1 | 12 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002 | 1/1 | 3261 | 47 | 5 | 8 | 24 | 1 | 7 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004 | 0/0 | 3261 | 17 | 13 | 1 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0005 | 0/0 | 3261 | 5 | 4 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0011 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0003 | 0/0 | 3261 | 22 | 0 | 3 | 15 | 0 | 4 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0015 | 0/0 | 3261 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0003c0006 | 0/0 | 3261 | 5 | 0 | 0 | 3 | 0 | 2 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0003c0010 | 0/0 | 3261 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0004c0007 | 0/0 | 3261 | 2 | 2 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0004c0009 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0005c0016 | 0/0 | 3261 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0006c0008 | 0/0 | 3261 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0007c0013 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0008c0012 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0009c0014 | 0/0 | 3261 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6421 | 33 | 30 | 2 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0003 | 0/0 | 6421 | 18 | 1 | 7 | 4 | 0 | 6 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0005 | 0/0 | 6421 | 7 | 5 | 2 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0006 | 0/0 | 6426 | 9 | 5 | 3 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0009 | 0/0 | 6422 | 4 | 0 | 1 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0014 | 0/0 | 6426 | 2 | 2 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0015 | 0/0 | 6423 | 2 | 1 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0016 | 0/0 | 6426 | 2 | 1 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0017 | 0/0 | 6421 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0024 | 0/0 | 6421 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0027 | 0/0 | 6421 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0001t0028 | 0/0 | 6423 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0001 | 1/1 | 6421 | 37 | 3 | 6 | 21 | 0 | 5 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0002 | 0/0 | 6427 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0008 | 0/0 | 6421 | 5 | 0 | 2 | 0 | 1 | 2 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0010 | 0/0 | 6426 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0013 | 0/0 | 6429 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0022 | 0/0 | 6420 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0002t0025 | 0/0 | 6425 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0004 | 0/0 | 6426 | 9 | 6 | 0 | 0 | 0 | 3 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0007 | 0/0 | 6427 | 4 | 3 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0018 | 0/0 | 6427 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0020 | 0/0 | 6420 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0021 | 0/0 | 6420 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0004t0026 | 0/0 | 6427 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0005t0004 | 0/0 | 6426 | 4 | 3 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0005t0023 | 0/0 | 6426 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0001c0011t0004 | 0/0 | 6426 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0003t0002 | 0/0 | 6427 | 17 | 0 | 3 | 10 | 0 | 4 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0003t0011 | 0/0 | 6427 | 2 | 0 | 0 | 2 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0003t0012 | 0/0 | 6427 | 2 | 0 | 0 | 2 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0003t0019 | 0/0 | 6423 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0002c0015t0002 | 0/0 | 6427 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0003c0006t0005 | 0/0 | 6421 | 5 | 0 | 0 | 3 | 0 | 2 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0003c0010t0005 | 0/0 | 6421 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0004c0007t0010 | 0/0 | 6426 | 2 | 2 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0004c0009t0007 | 0/0 | 6427 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0005c0016t0005 | 0/0 | 6421 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0006c0008t0013 | 0/0 | 6429 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0007c0013t0001 | 0/0 | 6421 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0008c0012t0010 | 0/0 | 6426 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| a0009c0014t0004 | 0/0 | 6426 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | copy fasta | chr5 | 43598180 | 43712396 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0005g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0006g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0009g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0009g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0009g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0009g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0014g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0014g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0015g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0015g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0016g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0016g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0017g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0024g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0027g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0001t0028g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0162 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0175 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0008g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0008g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0008g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0008g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0008g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0010g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0013g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0022g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0002t0025g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0007g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0007g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0007g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0007g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0018g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0020g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0021g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0004t0026g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0005t0004g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0005t0004g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0005t0004g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0005t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0005t0023g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0001c0011t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0002g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0011g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0011g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0012g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0012g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0003t0019g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0002c0015t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0006t0005g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0006t0005g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0006t0005g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0006t0005g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0006t0005g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0003c0010t0005g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0004c0007t0010g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0004c0007t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0004c0009t0007g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0005c0016t0005g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0006c0008t0013g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0007c0013t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0008c0012t0010g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| a0009c0014t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00544 | hp1 | a0002 | c0003 | t0002 | g0101 | EAS | CHS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00544 | hp2 | a0001 | c0002 | t0001 | g0153 | EAS | CHS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00597 | hp1 | a0001 | c0001 | t0003 | g0041 | EAS | CHS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00597 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | CHS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0185 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00639 | hp2 | a0001 | c0001 | t0003 | g0073 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00741 | hp1 | a0001 | c0001 | t0009 | g0076 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG00741 | hp2 | a0001 | c0002 | t0008 | g0169 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01069 | hp1 | a0002 | c0003 | t0002 | g0108 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01069 | hp2 | a0001 | c0002 | t0001 | g0182 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01070 | hp1 | a0002 | c0003 | t0002 | g0104 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01070 | hp2 | a0001 | c0001 | t0003 | g0001 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01071 | hp1 | a0001 | c0001 | t0003 | g0001 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01071 | hp2 | a0001 | c0002 | t0001 | g0161 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01074 | hp1 | a0001 | c0001 | t0003 | g0047 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01074 | hp2 | a0001 | c0001 | t0027 | g0054 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01109 | hp1 | a0001 | c0004 | t0007 | g0124 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01109 | hp2 | a0001 | c0001 | t0003 | g0023 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01167 | hp1 | a0001 | c0001 | t0006 | g0115 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01167 | hp2 | a0001 | c0005 | t0004 | g0132 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01169 | hp1 | a0001 | c0001 | t0006 | g0116 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01169 | hp2 | a0001 | c0001 | t0005 | g0066 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01175 | hp1 | a0001 | c0001 | t0003 | g0021 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01175 | hp2 | a0001 | c0001 | t0028 | g0016 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01243 | hp1 | a0001 | c0001 | t0016 | g0110 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01243 | hp2 | a0001 | c0001 | t0003 | g0067 | AMR | PUR | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0177 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01346 | hp1 | a0001 | c0002 | t0008 | g0171 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01346 | hp2 | a0001 | c0001 | t0006 | g0114 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01361 | hp2 | a0001 | c0001 | t0005 | g0010 | AMR | CLM | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01516 | hp1 | a0001 | c0001 | t0024 | g0017 | EUR | IBS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01516 | hp2 | a0001 | c0002 | t0008 | g0180 | EUR | IBS | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01891 | hp1 | a0001 | c0004 | t0021 | g0131 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01981 | hp1 | a0002 | c0003 | t0002 | g0091 | AMR | PEL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01981 | hp2 | a0001 | c0002 | t0001 | g0145 | AMR | PEL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01993 | hp1 | a0001 | c0002 | t0001 | g0170 | AMR | PEL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG01993 | hp2 | a0001 | c0001 | t0017 | g0037 | AMR | PEL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02071 | hp1 | a0002 | c0003 | t0011 | g0096 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02071 | hp2 | a0001 | c0002 | t0001 | g0166 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0022 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02074 | hp2 | a0006 | c0008 | t0013 | g0176 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02129 | hp1 | a0002 | c0003 | t0002 | g0102 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0155 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0160 | EAS | CDX | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02165 | hp2 | a0002 | c0003 | t0002 | g0098 | EAS | CDX | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02257 | hp1 | a0001 | c0001 | t0014 | g0137 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02257 | hp2 | a0001 | c0004 | t0004 | g0117 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02280 | hp1 | a0001 | c0001 | t0015 | g0033 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02451 | hp1 | a0001 | c0001 | t0006 | g0079 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02451 | hp2 | a0001 | c0001 | t0006 | g0071 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02523 | hp1 | a0001 | c0002 | t0001 | g0149 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02523 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | KHV | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02572 | hp2 | a0001 | c0005 | t0023 | g0136 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02602 | hp1 | a0001 | c0001 | t0009 | g0020 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02602 | hp2 | a0001 | c0002 | t0008 | g0168 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02615 | hp1 | a0001 | c0001 | t0005 | g0026 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02615 | hp2 | a0001 | c0004 | t0004 | g0122 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02622 | hp1 | a0001 | c0004 | t0007 | g0081 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02622 | hp2 | a0001 | c0001 | t0005 | g0055 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02683 | hp1 | a0001 | c0001 | t0009 | g0035 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02683 | hp2 | a0003 | c0010 | t0005 | g0036 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02717 | hp2 | a0001 | c0004 | t0007 | g0080 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02735 | hp1 | a0001 | c0004 | t0004 | g0119 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02735 | hp2 | a0001 | c0001 | t0003 | g0065 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0070 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02809 | hp2 | a0004 | c0007 | t0010 | g0003 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02818 | hp1 | a0001 | c0001 | t0006 | g0113 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02818 | hp2 | a0007 | c0013 | t0001 | g0058 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0139 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0046 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02897 | hp1 | a0001 | c0004 | t0018 | g0126 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02922 | hp2 | a0001 | c0001 | t0005 | g0053 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02970 | hp2 | a0004 | c0007 | t0010 | g0004 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02976 | hp1 | a0001 | c0005 | t0004 | g0135 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0059 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03017 | hp1 | a0001 | c0002 | t0001 | g0167 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03017 | hp2 | a0001 | c0001 | t0006 | g0109 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03098 | hp1 | a0001 | c0001 | t0005 | g0027 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03098 | hp2 | a0001 | c0001 | t0006 | g0111 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03130 | hp2 | a0001 | c0004 | t0004 | g0129 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03195 | hp1 | a0001 | c0002 | t0010 | g0184 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03209 | hp1 | a0001 | c0004 | t0004 | g0127 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03209 | hp2 | a0001 | c0001 | t0016 | g0112 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03225 | hp2 | a0004 | c0009 | t0007 | g0002 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0031 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0064 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03486 | hp1 | a0001 | c0005 | t0004 | g0134 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03490 | hp1 | a0001 | c0001 | t0009 | g0024 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03490 | hp2 | a0001 | c0004 | t0004 | g0120 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03516 | hp1 | a0009 | c0014 | t0004 | g0118 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | ESN | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03540 | hp2 | a0001 | c0004 | t0004 | g0128 | AFR | GWD | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0057 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03654 | hp2 | a0001 | c0001 | t0003 | g0040 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03669 | hp1 | a0002 | c0003 | t0002 | g0103 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03669 | hp2 | a0001 | c0001 | t0003 | g0038 | SAS | PJL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03831 | hp1 | a0005 | c0016 | t0005 | g0044 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03831 | hp2 | a0001 | c0002 | t0008 | g0172 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03834 | hp1 | a0001 | c0001 | t0003 | g0050 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03834 | hp2 | a0002 | c0003 | t0002 | g0092 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03927 | hp1 | a0001 | c0001 | t0003 | g0078 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03927 | hp2 | a0002 | c0003 | t0002 | g0105 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04115 | hp1 | a0001 | c0001 | t0015 | g0007 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04115 | hp2 | a0003 | c0006 | t0005 | g0043 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04184 | hp1 | a0001 | c0002 | t0001 | g0143 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04184 | hp2 | a0001 | c0001 | t0003 | g0034 | SAS | BEB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0165 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04199 | hp2 | a0002 | c0003 | t0002 | g0090 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04228 | hp1 | a0001 | c0004 | t0004 | g0121 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG04228 | hp2 | a0001 | c0002 | t0001 | g0179 | SAS | STU | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0061 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18522 | hp2 | a0001 | c0004 | t0004 | g0130 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18906 | hp2 | a0001 | c0011 | t0004 | g0123 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18941 | hp1 | a0002 | c0003 | t0002 | g0093 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18941 | hp2 | a0001 | c0002 | t0001 | g0152 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18943 | hp1 | a0002 | c0003 | t0002 | g0087 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18943 | hp2 | a0001 | c0002 | t0001 | g0159 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18947 | hp1 | a0002 | c0003 | t0012 | g0107 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18947 | hp2 | a0001 | c0002 | t0022 | g0151 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18949 | hp1 | a0003 | c0006 | t0005 | g0074 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18949 | hp2 | a0001 | c0002 | t0001 | g0146 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18953 | hp1 | a0001 | c0002 | t0001 | g0186 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18953 | hp2 | a0001 | c0002 | t0001 | g0154 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18970 | hp1 | a0002 | c0003 | t0012 | g0100 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18970 | hp2 | a0001 | c0002 | t0001 | g0157 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0174 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18971 | hp2 | a0003 | c0006 | t0005 | g0082 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18981 | hp1 | a0002 | c0003 | t0019 | g0089 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA18981 | hp2 | a0001 | c0002 | t0001 | g0142 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19003 | hp1 | a0001 | c0002 | t0001 | g0183 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19003 | hp2 | a0002 | c0003 | t0002 | g0095 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19006 | hp1 | a0002 | c0015 | t0002 | g0086 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19006 | hp2 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19009 | hp1 | a0001 | c0002 | t0002 | g0163 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19009 | hp2 | a0001 | c0001 | t0003 | g0039 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19030 | hp1 | a0001 | c0004 | t0020 | g0019 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19030 | hp2 | a0001 | c0004 | t0007 | g0125 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19043 | hp1 | a0001 | c0002 | t0001 | g0148 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19043 | hp2 | a0001 | c0005 | t0004 | g0133 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19065 | hp1 | a0001 | c0002 | t0001 | g0158 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19065 | hp2 | a0002 | c0003 | t0002 | g0088 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19068 | hp1 | a0002 | c0003 | t0011 | g0099 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19068 | hp2 | a0002 | c0003 | t0002 | g0106 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19072 | hp1 | a0001 | c0002 | t0001 | g0144 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19072 | hp2 | a0002 | c0003 | t0002 | g0094 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19075 | hp1 | a0001 | c0002 | t0013 | g0181 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19075 | hp2 | a0003 | c0006 | t0005 | g0077 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19086 | hp1 | a0001 | c0002 | t0001 | g0173 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19086 | hp2 | a0002 | c0003 | t0002 | g0097 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0164 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19091 | hp2 | a0001 | c0001 | t0003 | g0042 | EAS | JPT | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0062 | AFR | YRI | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | ASW | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20129 | hp2 | a0001 | c0002 | t0001 | g0156 | AFR | ASW | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20905 | hp1 | a0003 | c0006 | t0005 | g0085 | SAS | GIH | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0150 | SAS | GIH | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02109 | hp1 | a0001 | c0001 | t0014 | g0138 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | ACB | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03471 | hp1 | a0008 | c0012 | t0010 | g0045 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG03471 | hp2 | a0001 | c0001 | t0005 | g0056 | AFR | MSL | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG06807 | hp1 | a0001 | c0004 | t0026 | g0187 | AFR | USA | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | USA | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20300 | hp1 | a0001 | c0001 | t0003 | g0075 | AFR | USA | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA20300 | hp2 | a0001 | c0002 | t0025 | g0140 | AFR | USA | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA21309 | hp1 | a0001 | c0002 | t0001 | g0147 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | LWK | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0001 | g0175 | REF | REF | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0162 | REF | REF | NNT_chr5_43598180_43712396 | NNT | chr5 | 43598180 | 43712396 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:43609275
|
G | A | 1 | a0004 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.80G>A | p.Arg27His | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/22 | 248/6421 | 80/3261 | 27/1086 | chr5 | 43609275 | ||
| chr5:43612917
|
A | G | 1 | a0005 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.161A>G | p.Tyr54Cys | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/22 | 329/6421 | 161/3261 | 54/1086 | chr5 | 43612917 | ||
| chr5:43612944
|
A | G | 1 | a0002 | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
missense_variant | MODERATE | c.188A>G | p.Lys63Arg | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/22 | 356/6421 | 188/3261 | 63/1086 | chr5 | 43612944 | ||
| chr5:43644216
|
A | G | 1 | a0009 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.989A>G | p.Asn330Ser | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/22 | 1157/6421 | 989/3261 | 330/1086 | chr5 | 43644216 | ||
| chr5:43653141
|
C | T | 2 | a0002a0006 | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
missense_variant | MODERATE | c.1987C>T | p.Leu663Phe | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/22 | 2155/6421 | 1987/3261 | 663/1086 | chr5 | 43653141 | ||
| chr5:43656764
|
C | T | 1 | a0007 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.2405C>T | p.Thr802Ile | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/22 | 2573/6421 | 2405/3261 | 802/1086 | chr5 | 43656764 | ||
| chr5:43675616
|
C | T | 1 | a0008 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.2740C>T | p.Leu914Phe | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/22 | 2908/6421 | 2740/3261 | 914/1086 | chr5 | 43675616 | ||
| chr5:43700219
|
A | G | 1 | a0003 | 6 | HG02683.hp2 HG04115.hp2 NA18949.hp1 others(3): Show |
missense_variant | MODERATE | c.2977A>G | p.Ile993Val | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/22 | 3145/6421 | 2977/3261 | 993/1086 | chr5 | 43700219 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:43609241
|
C | T | 14 | a0001c0001a0001c0004a0001c0005others(11): Show | 140 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(137): Show |
synonymous_variant | LOW | c.46C>T | p.Leu16Leu | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/22 | 214/6421 | 46/3261 | 16/1086 | chr5 | 43609241 | ||
| chr5:43651866
|
T | C | 1 | a0003c0010 | 1 | HG02683.hp2 | synonymous_variant | LOW | c.1845T>C | p.Ser615Ser | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/22 | 2013/6421 | 1845/3261 | 615/1086 | chr5 | 43651866 | ||
| chr5:43655922
|
T | C | 4 | a0001c0004a0001c0005a0004c0009others(1): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
synonymous_variant | LOW | c.2142T>C | p.Ala714Ala | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 15/22 | 2310/6421 | 2142/3261 | 714/1086 | chr5 | 43655922 | ||
| chr5:43659212
|
C | G | 1 | a0002c0015 | 1 | NA19006.hp1 | synonymous_variant | LOW | c.2496C>G | p.Pro832Pro | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/22 | 2664/6421 | 2496/3261 | 832/1086 | chr5 | 43659212 | ||
| chr5:43700140
|
A | G | 3 | a0001c0005a0001c0011a0009c0014 | 7 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(4): Show |
synonymous_variant | LOW | c.2898A>G | p.Ala966Ala | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/22 | 3066/6421 | 2898/3261 | 966/1086 | chr5 | 43700140 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:43609170
|
T | C | 3 | a0001c0001t0003a0001c0001t0009a0001c0001t0017 | 23 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(20): Show |
5_prime_UTR_variant | MODIFIER | c.-26T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/22 | 26 | chr5 | 43609170 | |||||
| chr5:43609173
|
G | A | 1 | a0001c0004t0018 | 1 | HG02897.hp1 | 5_prime_UTR_variant | MODIFIER | c.-23G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/22 | 23 | chr5 | 43609173 | |||||
| chr5:43704440
|
C | G | 2 | a0001c0001t0017a0001c0002t0008 | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*36C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 36 | chr5 | 43704440 | |||||
| chr5:43704454
|
G | A | 8 | a0001c0002t0002a0001c0002t0013a0002c0003t0002others(5): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*50G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 50 | chr5 | 43704454 | |||||
| chr5:43704489
|
G | A | 1 | a0001c0004t0020 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*85G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 85 | chr5 | 43704489 | |||||
| chr5:43704587
|
T | TA | 8 | a0001c0002t0002a0001c0002t0013a0002c0003t0002others(5): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*189dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 190 | INFO_REALIGN_3_PRIME | chr5 | 43704587 | ||||
| chr5:43704828
|
GT | G | 11 | a0001c0002t0022a0001c0004t0004a0001c0004t0007others(8): Show | 25 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*434delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 434 | INFO_REALIGN_3_PRIME | chr5 | 43704828 | ||||
| chr5:43704901
|
G | A | 1 | a0001c0001t0014 | 2 | HG02109.hp1 HG02257.hp1 |
3_prime_UTR_variant | MODIFIER | c.*497G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 497 | chr5 | 43704901 | |||||
| chr5:43704903
|
A | G | 1 | a0001c0001t0028 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*499A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 499 | chr5 | 43704903 | |||||
| chr5:43705366
|
A | AT | 1 | a0001c0001t0009 | 4 | HG00741.hp1 HG02602.hp1 HG02683.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*970dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 971 | INFO_REALIGN_3_PRIME | chr5 | 43705366 | ||||
| chr5:43705422
|
A | G | 1 | a0001c0001t0027 | 1 | HG01074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1018A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1018 | chr5 | 43705422 | |||||
| chr5:43705689
|
G | A | 8 | a0001c0002t0002a0001c0002t0013a0002c0003t0002others(5): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1285G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1285 | chr5 | 43705689 | |||||
| chr5:43705771
|
A | ATG | 2 | a0001c0001t0015a0001c0001t0028 | 3 | HG01175.hp2 HG02280.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1386_*1387dupTG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1388 | INFO_REALIGN_3_PRIME | chr5 | 43705771 | ||||
| chr5:43705771
|
A | ATGTG | 11 | a0001c0001t0006a0001c0001t0014a0001c0001t0016others(8): Show | 39 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(36): Show |
3_prime_UTR_variant | MODIFIER | c.*1384_*1387dupTGTG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1388 | INFO_REALIGN_3_PRIME | chr5 | 43705771 | ||||
| chr5:43705771
|
A | ATGTGTG | 11 | a0001c0002t0013a0001c0004t0004a0001c0004t0007others(8): Show | 25 | HG01109.hp1 HG01167.hp2 HG02074.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*1382_*1387dupTGTG others(2): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1388 | INFO_REALIGN_3_PRIME | chr5 | 43705771 | ||||
| chr5:43705771
|
A | G | 1 | a0002c0003t0019 | 1 | NA18981.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1367A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1367 | chr5 | 43705771 | |||||
| chr5:43705790
|
T | TGTGC | 1 | a0002c0003t0011 | 2 | HG02071.hp1 NA19068.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1387_*1388insTGCG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1388 | INFO_REALIGN_3_PRIME | chr5 | 43705790 | ||||
| chr5:43705873
|
G | A | 1 | a0001c0005t0023 | 1 | HG02572.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1469G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1469 | chr5 | 43705873 | |||||
| chr5:43705948
|
T | C | 32 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(29): Show | 85 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(82): Show |
3_prime_UTR_variant | MODIFIER | c.*1544T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1544 | chr5 | 43705948 | |||||
| chr5:43706033
|
A | G | 1 | a0001c0004t0026 | 1 | HG06807.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1629A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1629 | chr5 | 43706033 | |||||
| chr5:43706252
|
C | T | 8 | a0001c0002t0002a0001c0002t0013a0002c0003t0002others(5): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1848C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1848 | chr5 | 43706252 | |||||
| chr5:43706339
|
C | T | 3 | a0001c0002t0010a0004c0007t0010a0008c0012t0010 | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1935C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1935 | chr5 | 43706339 | |||||
| chr5:43706402
|
A | G | 8 | a0001c0002t0002a0001c0002t0013a0002c0003t0002others(5): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1998A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 1998 | chr5 | 43706402 | |||||
| chr5:43706811
|
T | C | 1 | a0001c0001t0016 | 2 | HG01243.hp1 HG03209.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2407T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 2407 | chr5 | 43706811 | |||||
| chr5:43707120
|
T | TA | 17 | a0001c0001t0006a0001c0001t0014a0001c0001t0016others(14): Show | 49 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(46): Show |
3_prime_UTR_variant | MODIFIER | c.*2727dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 2728 | INFO_REALIGN_3_PRIME | chr5 | 43707120 | ||||
| chr5:43707195
|
A | T | 1 | a0001c0001t0024 | 1 | HG01516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2791A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 2791 | chr5 | 43707195 | |||||
| chr5:43707385
|
A | G | 1 | a0002c0003t0012 | 2 | NA18947.hp1 NA18970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2981A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 22/22 | 2981 | chr5 | 43707385 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:43603373
|
T | C | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-54+79T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43603373 | ||||||
| chr5:43603601
|
T | C | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-54+307T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43603601 | ||||||
| chr5:43603839
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-54+545G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43603839 | ||||||
| chr5:43604106
|
C | G | 1 | a0001c0002t0001g0186 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.-54+812C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604106 | ||||||
| chr5:43604156
|
T | C | 81 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(78): Show | 82 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(79): Show |
intron_variant | MODIFIER | c.-54+862T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604156 | ||||||
| chr5:43604164
|
G | A | 1 | a0002c0015t0002g0086 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-54+870G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604164 | ||||||
| chr5:43604316
|
A | G | 1 | a0003c0006t0005g0085 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-54+1022A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604316 | ||||||
| chr5:43604395
|
T | C | 139 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(136): Show | 140 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(137): Show |
intron_variant | MODIFIER | c.-54+1101T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604395 | ||||||
| chr5:43604415
|
C | T | 2 | a0001c0001t0001g0083a0001c0001t0001g0084 | 2 | HG02922.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-54+1121C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604415 | ||||||
| chr5:43604996
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG01175.hp2 HG01255.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.-54+1702G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43604996 | ||||||
| chr5:43605143
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-54+1849C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605143 | ||||||
| chr5:43605160
|
C | G | 1 | a0001c0002t0001g0185 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-54+1866C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605160 | ||||||
| chr5:43605243
|
G | A | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.-54+1949G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605243 | ||||||
| chr5:43605288
|
G | A | 8 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(5): Show | 8 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.-54+1994G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605288 | ||||||
| chr5:43605312
|
C | T | 1 | a0001c0002t0010g0184 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-54+2018C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605312 | ||||||
| chr5:43605348
|
C | T | 8 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(5): Show | 8 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.-54+2054C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605348 | ||||||
| chr5:43605353
|
A | G | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-54+2059A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605353 | ||||||
| chr5:43605492
|
C | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-54+2198C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605492 | ||||||
| chr5:43605522
|
C | CA | 62 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(59): Show | 62 | HG00544.hp1 HG00639.hp1 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.-54+2257dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605522
|
C | CAA | 46 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(43): Show | 47 | HG00597.hp1 HG01070.hp2 HG01071.hp1 others(44): Show |
intron_variant | MODIFIER | c.-54+2256_-54+2257d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605522
|
C | CAAA | 5 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(2): Show | 5 | HG01109.hp2 HG01175.hp1 HG02074.hp1 others(2): Show |
intron_variant | MODIFIER | c.-54+2255_-54+2257d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605522
|
C | CAAAAAAA others(3): Show |
1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-54+2248_-54+2257d others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605522
|
CA | C | 5 | a0001c0001t0006g0109a0001c0001t0016g0110a0001c0002t0001g0182others(2): Show | 5 | HG01069.hp2 HG01243.hp1 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.-54+2257delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605522
|
CAA | C | 6 | a0001c0001t0006g0111a0001c0001t0006g0113a0001c0001t0006g0114others(3): Show | 6 | HG01167.hp1 HG01169.hp1 HG01346.hp2 others(3): Show |
intron_variant | MODIFIER | c.-54+2256_-54+2257d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43605522 | |||||
| chr5:43605852
|
A | G | 1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-54+2558A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605852 | ||||||
| chr5:43605924
|
A | G | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-54+2630A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605924 | ||||||
| chr5:43605935
|
T | A | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.-54+2641T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43605935 | ||||||
| chr5:43606130
|
A | G | 1 | a0001c0001t0003g0050 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-54+2836A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606130 | ||||||
| chr5:43606168
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0006g0071 | 2 | HG02451.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-54+2874G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606168 | ||||||
| chr5:43606312
|
C | T | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-53-2831C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606312 | ||||||
| chr5:43606517
|
A | C | 5 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0068others(2): Show | 5 | HG02809.hp1 HG03195.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.-53-2626A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606517 | ||||||
| chr5:43606661
|
C | T | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.-53-2482C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606661 | ||||||
| chr5:43606726
|
ACT | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-2414_-53-2413d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43606726 | |||||
| chr5:43606801
|
C | G | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-2342C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606801 | ||||||
| chr5:43606919
|
A | G | 1 | a0003c0006t0005g0082 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.-53-2224A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606919 | ||||||
| chr5:43606958
|
G | A | 7 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(4): Show | 7 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.-53-2185G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43606958 | ||||||
| chr5:43606995
|
GT | G | 75 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(72): Show | 76 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(73): Show |
intron_variant | MODIFIER | c.-53-2138delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43606995 | |||||
| chr5:43607029
|
C | CCAGGCTG others(1): Show |
4 | a0001c0001t0001g0072a0001c0001t0006g0071a0001c0004t0007g0080others(1): Show | 4 | HG02451.hp2 HG02622.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-53-2097_-53-2090d others(10): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43607029 | |||||
| chr5:43607078
|
A | G | 1 | a0001c0001t0003g0078 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-53-2065A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607078 | ||||||
| chr5:43607085
|
C | G | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.-53-2058C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607085 | ||||||
| chr5:43607150
|
C | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-1993C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607150 | ||||||
| chr5:43607215
|
G | A | 2 | a0001c0001t0009g0020a0001c0001t0009g0024 | 2 | HG02602.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-53-1928G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607215 | ||||||
| chr5:43607315
|
T | C | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-1828T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607315 | ||||||
| chr5:43607608
|
C | A | 1 | a0001c0002t0001g0185 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-53-1535C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607608 | ||||||
| chr5:43607704
|
G | A | 1 | a0001c0001t0006g0109 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-53-1439G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607704 | ||||||
| chr5:43607798
|
A | T | 2 | a0001c0001t0003g0023a0001c0001t0003g0047 | 2 | HG01074.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.-53-1345A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607798 | ||||||
| chr5:43607839
|
C | T | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-53-1304C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607839 | ||||||
| chr5:43607882
|
G | A | 1 | a0001c0002t0001g0145 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-53-1261G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607882 | ||||||
| chr5:43607913
|
C | G | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.-53-1230C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607913 | ||||||
| chr5:43607937
|
C | CT | 127 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(124): Show | 128 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(125): Show |
intron_variant | MODIFIER | c.-53-1195dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43607937 | |||||
| chr5:43607947
|
T | C | 1 | a0001c0001t0006g0111 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-53-1196T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607947 | ||||||
| chr5:43607953
|
C | T | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.-53-1190C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43607953 | ||||||
| chr5:43608029
|
CA | C | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-1112delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | 43608029 | |||||
| chr5:43608182
|
G | C | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-53-961G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608182 | ||||||
| chr5:43608221
|
G | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-922G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608221 | ||||||
| chr5:43608276
|
G | A | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02723.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-53-867G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608276 | ||||||
| chr5:43608309
|
C | T | 2 | a0001c0001t0006g0079a0001c0004t0020g0019 | 2 | HG02451.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-53-834C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608309 | ||||||
| chr5:43608453
|
T | C | 2 | a0001c0001t0003g0023a0001c0001t0003g0047 | 2 | HG01074.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.-53-690T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608453 | ||||||
| chr5:43608541
|
G | A | 1 | a0001c0005t0004g0132 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.-53-602G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608541 | ||||||
| chr5:43608582
|
A | G | 1 | a0001c0004t0004g0117 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-53-561A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608582 | ||||||
| chr5:43608742
|
T | C | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-53-401T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608742 | ||||||
| chr5:43608750
|
T | C | 1 | a0001c0002t0001g0141 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-53-393T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608750 | ||||||
| chr5:43608911
|
A | C | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-53-232A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 1/21 | chr5 | 43608911 | ||||||
| chr5:43609818
|
A | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.151+472A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43609818 | ||||||
| chr5:43610153
|
G | A | 13 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(10): Show | 13 | HG01109.hp1 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.151+807G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610153 | ||||||
| chr5:43610201
|
CT | C | 49 | a0001c0001t0001g0072a0001c0001t0006g0071a0001c0001t0006g0079others(46): Show | 49 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.151+877delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr5 | 43610201 | |||||
| chr5:43610201
|
CTT | C | 72 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0011others(69): Show | 73 | HG00597.hp1 HG00741.hp1 HG01070.hp2 others(70): Show |
intron_variant | MODIFIER | c.151+876_151+877del others(2): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr5 | 43610201 | |||||
| chr5:43610201
|
CTTT | C | 5 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0003g0047others(2): Show | 5 | HG00639.hp2 HG01074.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.151+875_151+877del others(3): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr5 | 43610201 | |||||
| chr5:43610249
|
G | C | 8 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(5): Show | 8 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.151+903G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610249 | ||||||
| chr5:43610288
|
C | T | 1 | a0004c0007t0010g0004 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.151+942C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610288 | ||||||
| chr5:43610299
|
T | C | 139 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(136): Show | 140 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(137): Show |
intron_variant | MODIFIER | c.151+953T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610299 | ||||||
| chr5:43610330
|
G | T | 4 | a0001c0001t0001g0072a0001c0001t0006g0071a0001c0004t0007g0080others(1): Show | 4 | HG02451.hp2 HG02622.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.151+984G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610330 | ||||||
| chr5:43610350
|
C | T | 1 | a0002c0003t0002g0106 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.151+1004C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610350 | ||||||
| chr5:43610586
|
G | C | 140 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(137): Show | 141 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(138): Show |
intron_variant | MODIFIER | c.151+1240G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43610586 | ||||||
| chr5:43611114
|
CTT | C | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.151+1772_151+1773d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr5 | 43611114 | |||||
| chr5:43611447
|
A | G | 1 | a0001c0002t0001g0144 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.152-1461A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43611447 | ||||||
| chr5:43611579
|
C | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.152-1329C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43611579 | ||||||
| chr5:43611596
|
C | T | 1 | a0002c0015t0002g0086 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.152-1312C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43611596 | ||||||
| chr5:43611844
|
A | C | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.152-1064A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43611844 | ||||||
| chr5:43611859
|
G | T | 7 | a0001c0001t0006g0109a0001c0001t0006g0113a0001c0001t0006g0114others(4): Show | 7 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.152-1049G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43611859 | ||||||
| chr5:43612093
|
A | G | 7 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0103others(4): Show | 7 | HG01069.hp1 HG01070.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.152-815A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612093 | ||||||
| chr5:43612178
|
A | G | 1 | a0001c0001t0003g0067 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.152-730A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612178 | ||||||
| chr5:43612266
|
G | A | 1 | a0009c0014t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.152-642G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612266 | ||||||
| chr5:43612279
|
G | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.152-629G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612279 | ||||||
| chr5:43612339
|
T | A | 77 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(74): Show | 78 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(75): Show |
intron_variant | MODIFIER | c.152-569T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612339 | ||||||
| chr5:43612526
|
A | T | 26 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.152-382A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612526 | ||||||
| chr5:43612880
|
TA | T | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.152-27delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612880 | ||||||
| chr5:43612882
|
T | TA | 81 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(78): Show | 82 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(79): Show |
intron_variant | MODIFIER | c.152-26_152-25insA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612882 | ||||||
| chr5:43612883
|
T | A | 12 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.152-25T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 2/21 | chr5 | 43612883 | ||||||
| chr5:43613197
|
A | G | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.381+60A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613197 | ||||||
| chr5:43613230
|
C | A | 1 | a0001c0001t0027g0054 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.381+93C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613230 | ||||||
| chr5:43613417
|
T | G | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.381+280T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613417 | ||||||
| chr5:43613558
|
G | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002 | 3 | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.381+421G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613558 | ||||||
| chr5:43613662
|
C | A | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.381+525C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613662 | ||||||
| chr5:43613710
|
A | T | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.381+573A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613710 | ||||||
| chr5:43613736
|
T | C | 2 | a0001c0001t0005g0026a0001c0001t0005g0055 | 2 | HG02615.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.381+599T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613736 | ||||||
| chr5:43613883
|
CA | C | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.381+747delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43613883 | ||||||
| chr5:43614068
|
C | T | 1 | a0001c0002t0008g0180 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.381+931C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614068 | ||||||
| chr5:43614074
|
G | A | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.381+937G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614074 | ||||||
| chr5:43614487
|
A | G | 1 | a0001c0002t0001g0179 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.381+1350A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614487 | ||||||
| chr5:43614821
|
A | G | 2 | a0001c0004t0004g0129a0001c0004t0004g0130 | 2 | HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.382-1027A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614821 | ||||||
| chr5:43614857
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.382-991G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614857 | ||||||
| chr5:43614866
|
A | G | 140 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(137): Show | 141 | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(138): Show |
intron_variant | MODIFIER | c.382-982A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614866 | ||||||
| chr5:43614873
|
C | T | 1 | a0001c0001t0006g0113 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.382-975C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614873 | ||||||
| chr5:43614876
|
G | A | 3 | a0001c0001t0005g0027a0001c0001t0005g0053a0001c0001t0005g0056 | 3 | HG02922.hp2 HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.382-972G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614876 | ||||||
| chr5:43614883
|
A | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.382-965A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614883 | ||||||
| chr5:43614909
|
G | A | 73 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(70): Show | 74 | HG00597.hp1 HG00639.hp2 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.382-939G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614909 | ||||||
| chr5:43614934
|
G | A | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.382-914G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43614934 | ||||||
| chr5:43615150
|
CA | C | 27 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(24): Show | 27 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.382-689delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | 43615150 | |||||
| chr5:43615494
|
A | G | 1 | a0001c0002t0001g0178 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.382-354A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43615494 | ||||||
| chr5:43615706
|
G | A | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.382-142G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 3/21 | chr5 | 43615706 | ||||||
| chr5:43616544
|
A | G | 1 | a0001c0001t0005g0066 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.599+479A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43616544 | ||||||
| chr5:43616547
|
G | A | 1 | a0001c0001t0001g0057 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.599+482G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43616547 | ||||||
| chr5:43616600
|
G | T | 49 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(46): Show | 49 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.599+535G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43616600 | ||||||
| chr5:43616658
|
A | C | 27 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(24): Show | 27 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.599+593A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43616658 | ||||||
| chr5:43616774
|
A | G | 3 | a0001c0001t0001g0018a0001c0001t0005g0010a0001c0001t0024g0017 | 3 | HG01361.hp2 HG01516.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.599+709A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43616774 | ||||||
| chr5:43617018
|
G | A | 22 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(19): Show | 22 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.599+953G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617018 | ||||||
| chr5:43617167
|
A | G | 4 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.599+1102A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617167 | ||||||
| chr5:43617221
|
A | C | 1 | a0002c0003t0002g0106 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.599+1156A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617221 | ||||||
| chr5:43617236
|
G | A | 5 | a0001c0001t0003g0050a0004c0007t0010g0003a0004c0007t0010g0004others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.599+1171G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617236 | ||||||
| chr5:43617311
|
G | A | 66 | a0001c0001t0001g0072a0001c0001t0006g0071a0001c0001t0006g0079others(63): Show | 66 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.599+1246G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617311 | ||||||
| chr5:43617366
|
T | G | 1 | a0001c0001t0001g0051 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.599+1301T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617366 | ||||||
| chr5:43617545
|
T | C | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.599+1480T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617545 | ||||||
| chr5:43617809
|
A | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.600-1223A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617809 | ||||||
| chr5:43617988
|
G | A | 14 | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0028others(11): Show | 14 | HG01361.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.600-1044G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617988 | ||||||
| chr5:43617999
|
A | G | 1 | a0001c0001t0028g0016 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.600-1033A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43617999 | ||||||
| chr5:43618061
|
A | T | 2 | a0001c0001t0001g0072a0001c0001t0006g0071 | 2 | HG02451.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.600-971A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618061 | ||||||
| chr5:43618217
|
C | T | 4 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.600-815C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618217 | ||||||
| chr5:43618254
|
C | T | 3 | a0001c0001t0005g0027a0001c0001t0005g0053a0001c0001t0005g0056 | 3 | HG02922.hp2 HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.600-778C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618254 | ||||||
| chr5:43618446
|
C | T | 1 | a0001c0001t0006g0079 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.600-586C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618446 | ||||||
| chr5:43618461
|
A | G | 15 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0093others(12): Show | 15 | HG00544.hp1 HG02071.hp1 HG02129.hp1 others(12): Show |
intron_variant | MODIFIER | c.600-571A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618461 | ||||||
| chr5:43618488
|
A | T | 1 | a0001c0002t0001g0177 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.600-544A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618488 | ||||||
| chr5:43618515
|
C | T | 1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.600-517C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618515 | ||||||
| chr5:43618601
|
A | G | 1 | a0001c0002t0001g0175 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.600-431A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618601 | ||||||
| chr5:43618612
|
T | C | 1 | a0001c0005t0004g0133 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.600-420T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618612 | ||||||
| chr5:43618615
|
T | C | 1 | a0001c0004t0007g0124 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.600-417T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618615 | ||||||
| chr5:43618633
|
C | A | 10 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(7): Show | 10 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.600-399C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | chr5 | 43618633 | ||||||
| chr5:43618999
|
A | ATTAT | 7 | a0001c0001t0001g0072a0001c0001t0006g0071a0004c0007t0010g0003others(4): Show | 7 | HG02451.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.600-10_600-7dupATT others(1): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr5 | 43618999 | |||||
| chr5:43619154
|
C | G | 1 | a0003c0006t0005g0077 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.687+35C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619154 | ||||||
| chr5:43619239
|
G | A | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.687+120G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619239 | ||||||
| chr5:43619257
|
C | T | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.687+138C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619257 | ||||||
| chr5:43619286
|
G | T | 22 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(19): Show | 22 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.687+167G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619286 | ||||||
| chr5:43619287
|
C | T | 22 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(19): Show | 22 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.687+168C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619287 | ||||||
| chr5:43619412
|
T | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.687+293T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619412 | ||||||
| chr5:43619413
|
A | T | 27 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(24): Show | 27 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.687+294A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619413 | ||||||
| chr5:43619444
|
T | A | 3 | a0001c0004t0004g0128a0001c0004t0004g0129a0001c0004t0004g0130 | 3 | HG03130.hp2 HG03540.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.687+325T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619444 | ||||||
| chr5:43619489
|
T | C | 2 | a0001c0002t0001g0147a0001c0002t0001g0148 | 2 | NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.687+370T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619489 | ||||||
| chr5:43619514
|
C | T | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.687+395C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619514 | ||||||
| chr5:43619594
|
T | C | 1 | a0001c0001t0005g0027 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.687+475T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619594 | ||||||
| chr5:43619759
|
T | C | 11 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0093others(8): Show | 11 | HG02071.hp1 HG02165.hp2 NA18941.hp1 others(8): Show |
intron_variant | MODIFIER | c.687+640T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619759 | ||||||
| chr5:43619859
|
A | C | 66 | a0001c0001t0001g0072a0001c0001t0006g0071a0001c0001t0006g0079others(63): Show | 66 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.687+740A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619859 | ||||||
| chr5:43619946
|
G | T | 4 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.687+827G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43619946 | ||||||
| chr5:43620242
|
C | T | 15 | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0028others(12): Show | 15 | HG01361.hp1 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.687+1123C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620242 | ||||||
| chr5:43620264
|
G | T | 1 | a0001c0002t0001g0178 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.687+1145G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620264 | ||||||
| chr5:43620365
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.687+1246G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620365 | ||||||
| chr5:43620380
|
C | T | 12 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.687+1261C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620380 | ||||||
| chr5:43620479
|
C | T | 2 | a0001c0001t0005g0066a0005c0016t0005g0044 | 2 | HG01169.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.687+1360C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620479 | ||||||
| chr5:43620480
|
G | A | 49 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(46): Show | 49 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.687+1361G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620480 | ||||||
| chr5:43620584
|
G | GAAAAAAA others(316): Show |
1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.687+1480_687+1481i others(325): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | 43620584 | |||||
| chr5:43620668
|
T | G | 4 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.687+1549T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620668 | ||||||
| chr5:43620722
|
C | T | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.687+1603C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620722 | ||||||
| chr5:43620933
|
A | C | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.687+1814A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620933 | ||||||
| chr5:43620959
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.687+1840C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43620959 | ||||||
| chr5:43621007
|
A | G | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.687+1888A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621007 | ||||||
| chr5:43621077
|
G | A | 4 | a0004c0007t0010g0003a0004c0007t0010g0004a0004c0009t0007g0002others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.687+1958G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621077 | ||||||
| chr5:43621162
|
G | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.687+2043G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621162 | ||||||
| chr5:43621184
|
C | T | 13 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0006g0109others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.687+2065C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621184 | ||||||
| chr5:43621193
|
G | T | 1 | a0003c0006t0005g0043 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.687+2074G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621193 | ||||||
| chr5:43621311
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0006g0071 | 2 | HG02451.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.687+2192T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621311 | ||||||
| chr5:43621539
|
T | TTTA | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.687+2435_687+2437d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | 43621539 | |||||
| chr5:43621560
|
G | A | 1 | a0001c0001t0006g0079 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.687+2441G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621560 | ||||||
| chr5:43621711
|
T | C | 1 | a0001c0002t0001g0142 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.688-2321T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621711 | ||||||
| chr5:43621765
|
G | A | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.688-2267G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621765 | ||||||
| chr5:43621773
|
A | G | 13 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0006g0109others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.688-2259A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43621773 | ||||||
| chr5:43622114
|
T | C | 1 | a0001c0001t0001g0028 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.688-1918T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622114 | ||||||
| chr5:43622166
|
G | C | 13 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0006g0079others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.688-1866G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622166 | ||||||
| chr5:43622190
|
G | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.688-1842G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622190 | ||||||
| chr5:43622342
|
A | C | 66 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0006g0079others(63): Show | 66 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.688-1690A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622342 | ||||||
| chr5:43622442
|
T | C | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.688-1590T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622442 | ||||||
| chr5:43622621
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.688-1411C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622621 | ||||||
| chr5:43622839
|
G | T | 1 | a0001c0002t0001g0174 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.688-1193G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622839 | ||||||
| chr5:43622865
|
G | GT | 7 | a0001c0001t0001g0032a0001c0001t0006g0116a0001c0001t0006g0139others(4): Show | 7 | HG00597.hp2 HG01169.hp1 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.688-1152dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | 43622865 | |||||
| chr5:43622865
|
G | T | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.688-1167G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43622865 | ||||||
| chr5:43622865
|
GT | G | 22 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(19): Show | 22 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.688-1152delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | 43622865 | |||||
| chr5:43623127
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.688-905C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623127 | ||||||
| chr5:43623351
|
A | ATGT | 51 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(48): Show | 51 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.688-679_688-677dup others(3): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | 43623351 | |||||
| chr5:43623360
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.688-672C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623360 | ||||||
| chr5:43623410
|
T | C | 26 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.688-622T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623410 | ||||||
| chr5:43623492
|
G | T | 2 | a0001c0004t0004g0129a0001c0004t0004g0130 | 2 | HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.688-540G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623492 | ||||||
| chr5:43623563
|
G | C | 25 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(22): Show | 25 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.688-469G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623563 | ||||||
| chr5:43623689
|
C | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.688-343C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623689 | ||||||
| chr5:43623733
|
A | G | 1 | a0003c0006t0005g0043 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.688-299A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623733 | ||||||
| chr5:43623924
|
G | A | 10 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(7): Show | 10 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.688-108G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 5/21 | chr5 | 43623924 | ||||||
| chr5:43624399
|
A | G | 25 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(22): Show | 25 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.776+279A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43624399 | ||||||
| chr5:43624589
|
T | C | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.776+469T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43624589 | ||||||
| chr5:43624657
|
T | A | 1 | a0001c0001t0003g0067 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.776+537T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43624657 | ||||||
| chr5:43624706
|
T | G | 3 | a0001c0004t0007g0125a0001c0004t0018g0126a0004c0009t0007g0002 | 3 | HG02897.hp1 HG03225.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.776+586T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43624706 | ||||||
| chr5:43624784
|
C | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.776+664C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43624784 | ||||||
| chr5:43625128
|
T | G | 1 | a0008c0012t0010g0045 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.776+1008T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625128 | ||||||
| chr5:43625359
|
A | G | 1 | a0003c0006t0005g0085 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.776+1239A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625359 | ||||||
| chr5:43625612
|
A | C | 15 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0093others(12): Show | 15 | HG00544.hp1 HG02071.hp1 HG02129.hp1 others(12): Show |
intron_variant | MODIFIER | c.776+1492A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625612 | ||||||
| chr5:43625622
|
C | G | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.776+1502C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625622 | ||||||
| chr5:43625687
|
A | G | 10 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(7): Show | 10 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.776+1567A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625687 | ||||||
| chr5:43625725
|
T | C | 67 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0006g0071others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.776+1605T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625725 | ||||||
| chr5:43625727
|
G | A | 25 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(22): Show | 25 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.776+1607G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625727 | ||||||
| chr5:43625804
|
G | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.776+1684G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625804 | ||||||
| chr5:43625850
|
G | A | 1 | a0001c0002t0001g0149 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.776+1730G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43625850 | ||||||
| chr5:43626009
|
A | G | 1 | a0001c0001t0003g0001 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.776+1889A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626009 | ||||||
| chr5:43626148
|
C | A | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG06807.hp2 NA18522.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.776+2028C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626148 | ||||||
| chr5:43626227
|
A | G | 13 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.777-1973A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626227 | ||||||
| chr5:43626232
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.777-1968G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626232 | ||||||
| chr5:43626264
|
A | C | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.777-1936A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626264 | ||||||
| chr5:43626517
|
A | G | 2 | a0001c0004t0004g0129a0001c0004t0004g0130 | 2 | HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.777-1683A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626517 | ||||||
| chr5:43626690
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.777-1510C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626690 | ||||||
| chr5:43626806
|
A | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.777-1394A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626806 | ||||||
| chr5:43626854
|
C | T | 1 | a0001c0002t0001g0173 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.777-1346C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43626854 | ||||||
| chr5:43626869
|
G | GTA | 8 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(5): Show | 8 | HG01109.hp1 HG01891.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.777-1322_777-1321d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | 43626869 | |||||
| chr5:43627067
|
T | C | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.777-1133T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627067 | ||||||
| chr5:43627097
|
T | C | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.777-1103T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627097 | ||||||
| chr5:43627111
|
T | G | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.777-1089T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627111 | ||||||
| chr5:43627189
|
C | T | 6 | a0001c0002t0001g0170a0001c0002t0008g0168a0001c0002t0008g0169others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.777-1011C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627189 | ||||||
| chr5:43627328
|
C | T | 1 | a0003c0006t0005g0082 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.777-872C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627328 | ||||||
| chr5:43627346
|
T | C | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.777-854T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627346 | ||||||
| chr5:43627584
|
A | G | 1 | a0001c0001t0003g0065 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.777-616A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627584 | ||||||
| chr5:43627666
|
T | C | 46 | a0001c0004t0004g0117a0001c0004t0004g0122a0001c0004t0004g0127others(43): Show | 46 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.777-534T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627666 | ||||||
| chr5:43627763
|
A | G | 6 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(3): Show | 6 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.777-437A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627763 | ||||||
| chr5:43627864
|
A | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.777-336A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627864 | ||||||
| chr5:43627950
|
T | G | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.777-250T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43627950 | ||||||
| chr5:43628149
|
C | G | 1 | a0001c0001t0006g0109 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.777-51C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 6/21 | chr5 | 43628149 | ||||||
| chr5:43628439
|
T | A | 26 | a0001c0001t0006g0139a0001c0004t0020g0019a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.964+52T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628439 | ||||||
| chr5:43628535
|
T | C | 4 | a0001c0011t0004g0123a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.964+148T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628535 | ||||||
| chr5:43628567
|
C | T | 66 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(63): Show | 66 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.964+180C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628567 | ||||||
| chr5:43628594
|
T | A | 2 | a0001c0001t0015g0007a0001c0001t0028g0016 | 2 | HG01175.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.964+207T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628594 | ||||||
| chr5:43628642
|
G | A | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.964+255G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628642 | ||||||
| chr5:43628689
|
C | A | 1 | a0001c0004t0004g0127 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.964+302C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628689 | ||||||
| chr5:43628690
|
G | A | 1 | a0001c0001t0001g0068 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.964+303G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628690 | ||||||
| chr5:43628834
|
G | A | 2 | a0001c0001t0005g0010a0001c0001t0024g0017 | 2 | HG01361.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.964+447G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628834 | ||||||
| chr5:43628924
|
G | T | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.964+537G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43628924 | ||||||
| chr5:43628935
|
G | GT | 53 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(50): Show | 53 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.964+561dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43628935 | |||||
| chr5:43629145
|
C | T | 5 | a0001c0002t0001g0170a0001c0002t0008g0169a0001c0002t0008g0171others(2): Show | 5 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.964+758C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629145 | ||||||
| chr5:43629154
|
C | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+767C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629154 | ||||||
| chr5:43629154
|
C | G | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.964+767C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629154 | ||||||
| chr5:43629156
|
C | G | 1 | a0001c0002t0001g0165 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.964+769C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629156 | ||||||
| chr5:43629248
|
C | T | 1 | a0001c0002t0001g0177 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.964+861C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629248 | ||||||
| chr5:43629283
|
G | C | 1 | a0003c0006t0005g0077 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.964+896G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629283 | ||||||
| chr5:43629372
|
C | T | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.964+985C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629372 | ||||||
| chr5:43629397
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.964+1010G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629397 | ||||||
| chr5:43629664
|
C | T | 1 | a0001c0001t0005g0026 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.964+1277C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629664 | ||||||
| chr5:43629688
|
A | G | 2 | a0002c0003t0002g0098a0002c0003t0011g0099 | 2 | HG02165.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.964+1301A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43629688 | ||||||
| chr5:43630102
|
T | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.964+1715T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630102 | ||||||
| chr5:43630241
|
A | G | 1 | a0001c0001t0001g0008 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.964+1854A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630241 | ||||||
| chr5:43630383
|
A | G | 23 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(20): Show | 23 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.964+1996A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630383 | ||||||
| chr5:43630423
|
T | C | 2 | a0001c0001t0003g0021a0001c0001t0003g0034 | 2 | HG01175.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.964+2036T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630423 | ||||||
| chr5:43630640
|
A | G | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+2253A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630640 | ||||||
| chr5:43630720
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+2333C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630720 | ||||||
| chr5:43630784
|
C | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+2397C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630784 | ||||||
| chr5:43630901
|
G | A | 28 | a0001c0011t0004g0123a0002c0003t0002g0087a0002c0003t0002g0088others(25): Show | 28 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.964+2514G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43630901 | ||||||
| chr5:43631012
|
G | T | 17 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0092others(14): Show | 17 | HG00544.hp1 HG02071.hp1 HG02074.hp2 others(14): Show |
intron_variant | MODIFIER | c.964+2625G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631012 | ||||||
| chr5:43631040
|
T | C | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.964+2653T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631040 | ||||||
| chr5:43631288
|
T | A | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+2901T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631288 | ||||||
| chr5:43631469
|
C | T | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.964+3082C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631469 | ||||||
| chr5:43631581
|
T | G | 4 | a0001c0011t0004g0123a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.964+3194T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631581 | ||||||
| chr5:43631686
|
A | G | 1 | a0001c0001t0027g0054 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.964+3299A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631686 | ||||||
| chr5:43631969
|
G | GA | 22 | a0001c0001t0003g0050a0001c0001t0006g0139a0001c0001t0014g0137others(19): Show | 22 | HG00597.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.964+3601dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43631969 | |||||
| chr5:43631969
|
G | GAA | 7 | a0001c0002t0001g0143a0001c0005t0004g0132a0001c0005t0004g0133others(4): Show | 7 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.964+3600_964+3601d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43631969 | |||||
| chr5:43631969
|
G | GAAA | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.964+3599_964+3601d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43631969 | |||||
| chr5:43631969
|
GA | G | 7 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(4): Show | 7 | HG02809.hp2 HG02970.hp2 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.964+3601delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43631969 | |||||
| chr5:43631997
|
A | G | 2 | a0004c0007t0010g0004a0008c0012t0010g0045 | 2 | HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.964+3610A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43631997 | ||||||
| chr5:43632322
|
C | CT | 2 | a0002c0003t0002g0106a0002c0003t0019g0089 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.964+3936dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43632322 | |||||
| chr5:43632323
|
T | G | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.964+3936T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632323 | ||||||
| chr5:43632418
|
G | A | 1 | a0001c0004t0007g0124 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.964+4031G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632418 | ||||||
| chr5:43632421
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.964+4034G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632421 | ||||||
| chr5:43632651
|
C | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+4264C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632651 | ||||||
| chr5:43632788
|
G | A | 1 | a0001c0002t0001g0141 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.964+4401G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632788 | ||||||
| chr5:43632830
|
A | T | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.964+4443A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632830 | ||||||
| chr5:43632942
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+4555G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43632942 | ||||||
| chr5:43633004
|
A | G | 2 | a0001c0001t0001g0057a0001c0001t0001g0064 | 2 | HG03453.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.964+4617A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633004 | ||||||
| chr5:43633207
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+4820C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633207 | ||||||
| chr5:43633360
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+4973A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633360 | ||||||
| chr5:43633495
|
C | T | 3 | a0001c0004t0007g0125a0001c0004t0018g0126a0004c0009t0007g0002 | 3 | HG02897.hp1 HG03225.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.964+5108C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633495 | ||||||
| chr5:43633624
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+5237A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633624 | ||||||
| chr5:43633767
|
C | A | 1 | a0001c0002t0001g0150 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.964+5380C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633767 | ||||||
| chr5:43633821
|
A | G | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.964+5434A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633821 | ||||||
| chr5:43633882
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+5495A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633882 | ||||||
| chr5:43633892
|
AGTCTGC | A | 5 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(2): Show | 5 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.964+5506_964+5511d others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43633892 | ||||||
| chr5:43634055
|
C | T | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.964+5668C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43634055 | ||||||
| chr5:43634208
|
T | A | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.964+5821T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43634208 | ||||||
| chr5:43634301
|
G | A | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.964+5914G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43634301 | ||||||
| chr5:43634566
|
C | T | 1 | a0001c0002t0001g0164 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.964+6179C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43634566 | ||||||
| chr5:43635054
|
A | G | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.964+6667A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635054 | ||||||
| chr5:43635135
|
A | G | 1 | a0001c0001t0001g0070 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.964+6748A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635135 | ||||||
| chr5:43635421
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.964+7034T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635421 | ||||||
| chr5:43635547
|
A | G | 1 | a0001c0002t0001g0167 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.964+7160A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635547 | ||||||
| chr5:43635572
|
G | A | 1 | a0001c0002t0001g0178 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.964+7185G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635572 | ||||||
| chr5:43635580
|
A | G | 3 | a0001c0001t0006g0079a0001c0001t0006g0115a0001c0001t0006g0116 | 3 | HG01167.hp1 HG01169.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.964+7193A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635580 | ||||||
| chr5:43635730
|
T | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.964+7343T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635730 | ||||||
| chr5:43635993
|
G | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.964+7606G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43635993 | ||||||
| chr5:43636081
|
A | G | 1 | a0001c0001t0001g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.964+7694A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43636081 | ||||||
| chr5:43636228
|
T | C | 1 | a0001c0001t0001g0072 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.964+7841T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43636228 | ||||||
| chr5:43636244
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.964+7857C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43636244 | ||||||
| chr5:43636336
|
G | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.965-7856G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43636336 | ||||||
| chr5:43636418
|
A | G | 1 | a0001c0001t0001g0015 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.965-7774A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43636418 | ||||||
| chr5:43636783
|
AT | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-7405delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43636783 | |||||
| chr5:43637131
|
G | A | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.965-7061G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637131 | ||||||
| chr5:43637277
|
C | A | 1 | a0001c0002t0022g0151 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.965-6915C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637277 | ||||||
| chr5:43637354
|
C | A | 6 | a0001c0004t0007g0080a0001c0004t0007g0081a0001c0004t0007g0124others(3): Show | 6 | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.965-6838C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637354 | ||||||
| chr5:43637355
|
C | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.965-6837C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637355 | ||||||
| chr5:43637367
|
T | C | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.965-6825T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637367 | ||||||
| chr5:43637370
|
G | C | 1 | a0001c0002t0001g0152 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.965-6822G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637370 | ||||||
| chr5:43637601
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-6591T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637601 | ||||||
| chr5:43637954
|
C | T | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.965-6238C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43637954 | ||||||
| chr5:43638043
|
C | T | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.965-6149C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638043 | ||||||
| chr5:43638089
|
T | C | 1 | a0004c0007t0010g0004 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.965-6103T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638089 | ||||||
| chr5:43638111
|
C | G | 1 | a0001c0002t0001g0152 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.965-6081C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638111 | ||||||
| chr5:43638462
|
G | A | 1 | a0001c0002t0001g0164 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.965-5730G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638462 | ||||||
| chr5:43638488
|
C | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-5704C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638488 | ||||||
| chr5:43638633
|
A | G | 1 | a0001c0002t0002g0163 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.965-5559A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638633 | ||||||
| chr5:43638664
|
G | GT | 34 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0049others(31): Show | 35 | HG00597.hp1 HG00741.hp1 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.965-5513dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43638664 | |||||
| chr5:43638683
|
C | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.965-5509C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638683 | ||||||
| chr5:43638949
|
G | C | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.965-5243G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43638949 | ||||||
| chr5:43639312
|
C | T | 1 | a0001c0001t0003g0042 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.965-4880C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639312 | ||||||
| chr5:43639538
|
A | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-4654A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639538 | ||||||
| chr5:43639542
|
A | G | 1 | a0001c0004t0007g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.965-4650A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639542 | ||||||
| chr5:43639590
|
C | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.965-4602C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639590 | ||||||
| chr5:43639649
|
A | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.965-4543A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639649 | ||||||
| chr5:43639719
|
C | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.965-4473C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639719 | ||||||
| chr5:43639921
|
A | AT | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-4261dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43639921 | |||||
| chr5:43639936
|
G | A | 29 | a0001c0002t0010g0184a0001c0004t0004g0117a0001c0004t0004g0119others(26): Show | 29 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.965-4256G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639936 | ||||||
| chr5:43639969
|
G | A | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.965-4223G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43639969 | ||||||
| chr5:43640631
|
T | A | 1 | a0001c0004t0004g0127 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.965-3561T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43640631 | ||||||
| chr5:43640632
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-3560C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43640632 | ||||||
| chr5:43640647
|
TAA | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.965-3544_965-3543d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43640647 | ||||||
| chr5:43640840
|
T | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.965-3352T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43640840 | ||||||
| chr5:43641049
|
T | G | 29 | a0001c0002t0010g0184a0001c0011t0004g0123a0002c0003t0002g0087others(26): Show | 29 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(26): Show |
intron_variant | MODIFIER | c.965-3143T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641049 | ||||||
| chr5:43641386
|
C | T | 1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.965-2806C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641386 | ||||||
| chr5:43641483
|
C | T | 7 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0103others(4): Show | 7 | HG01069.hp1 HG01070.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.965-2709C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641483 | ||||||
| chr5:43641490
|
C | A | 6 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121others(3): Show | 6 | HG02735.hp1 HG03130.hp2 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.965-2702C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641490 | ||||||
| chr5:43641748
|
C | T | 1 | a0001c0002t0001g0165 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.965-2444C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641748 | ||||||
| chr5:43641792
|
G | A | 1 | a0001c0002t0001g0173 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.965-2400G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641792 | ||||||
| chr5:43641933
|
G | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-2259G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641933 | ||||||
| chr5:43641997
|
C | T | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.965-2195C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43641997 | ||||||
| chr5:43642041
|
T | C | 1 | a0001c0002t0001g0175 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.965-2151T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642041 | ||||||
| chr5:43642079
|
G | C | 1 | a0001c0001t0015g0007 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.965-2113G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642079 | ||||||
| chr5:43642267
|
G | A | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.965-1925G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642267 | ||||||
| chr5:43642321
|
C | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-1871C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642321 | ||||||
| chr5:43642630
|
G | T | 1 | a0001c0005t0004g0133 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.965-1562G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642630 | ||||||
| chr5:43642701
|
A | G | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.965-1491A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642701 | ||||||
| chr5:43642873
|
C | CAGA | 29 | a0001c0002t0010g0184a0001c0011t0004g0123a0002c0003t0002g0087others(26): Show | 29 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(26): Show |
intron_variant | MODIFIER | c.965-1314_965-1312d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr5 | 43642873 | |||||
| chr5:43642924
|
A | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.965-1268A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642924 | ||||||
| chr5:43642934
|
T | C | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.965-1258T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43642934 | ||||||
| chr5:43643002
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.965-1190G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643002 | ||||||
| chr5:43643044
|
A | C | 29 | a0001c0002t0010g0184a0001c0011t0004g0123a0002c0003t0002g0087others(26): Show | 29 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(26): Show |
intron_variant | MODIFIER | c.965-1148A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643044 | ||||||
| chr5:43643123
|
C | G | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.965-1069C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643123 | ||||||
| chr5:43643316
|
G | A | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.965-876G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643316 | ||||||
| chr5:43643370
|
C | T | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.965-822C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643370 | ||||||
| chr5:43643738
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.965-454C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643738 | ||||||
| chr5:43643781
|
C | G | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.965-411C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43643781 | ||||||
| chr5:43644133
|
G | A | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.965-59G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 7/21 | chr5 | 43644133 | ||||||
| chr5:43644340
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1098+15G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/21 | chr5 | 43644340 | ||||||
| chr5:43644342
|
T | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1098+17T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/21 | chr5 | 43644342 | ||||||
| chr5:43644379
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1098+54G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/21 | chr5 | 43644379 | ||||||
| chr5:43644386
|
G | GT | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1098+64dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr5 | 43644386 | |||||
| chr5:43644460
|
T | C | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.1098+135T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 8/21 | chr5 | 43644460 | ||||||
| chr5:43644849
|
T | C | 1 | a0009c0014t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1290+47T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43644849 | ||||||
| chr5:43644869
|
G | T | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1290+67G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43644869 | ||||||
| chr5:43645002
|
A | C | 1 | a0001c0004t0004g0130 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1290+200A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43645002 | ||||||
| chr5:43645050
|
T | A | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1290+248T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43645050 | ||||||
| chr5:43645181
|
A | G | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1291-176A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43645181 | ||||||
| chr5:43645190
|
T | C | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1291-167T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43645190 | ||||||
| chr5:43645206
|
A | G | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1291-151A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 9/21 | chr5 | 43645206 | ||||||
| chr5:43645561
|
T | TTA | 16 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(13): Show | 16 | HG01069.hp1 HG01070.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.1444+65_1444+66dup others(2): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645561 | |||||
| chr5:43645565
|
A | G | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+55A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645565 | ||||||
| chr5:43645584
|
T | A | 1 | a0003c0006t0005g0077 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.1444+74T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645584 | ||||||
| chr5:43645608
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1444+98T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645608 | ||||||
| chr5:43645640
|
CATCT | C | 2 | a0001c0001t0003g0023a0001c0001t0003g0047 | 2 | HG01074.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.1444+143_1444+146d others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645640 | |||||
| chr5:43645642
|
T | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1444+132T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645642 | ||||||
| chr5:43645647
|
CTA | C | 4 | a0001c0001t0005g0026a0001c0001t0005g0055a0001c0001t0006g0113others(1): Show | 4 | HG01346.hp2 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1444+139_1444+140d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645647 | |||||
| chr5:43645649
|
A | C | 7 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(4): Show | 7 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.1444+139A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645649 | ||||||
| chr5:43645649
|
ATCTATC | A | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1444+143_1444+148d others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645649 | |||||
| chr5:43645649
|
ATCTATCT others(3): Show |
A | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1444+143_1444+152d others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645649 | |||||
| chr5:43645653
|
A | ATC | 4 | a0001c0002t0001g0005a0001c0002t0001g0178a0001c0002t0008g0172others(1): Show | 4 | HG00597.hp2 HG02523.hp2 HG03831.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+173_1444+174d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | ATCTATCT others(3): Show |
1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1444+146_1444+147i others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | ATCTATCT others(5): Show |
1 | a0001c0001t0014g0137 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1444+146_1444+147i others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | ATCTATCT others(7): Show |
1 | a0001c0001t0014g0138 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1444+146_1444+147i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | ATCTCTCT others(3): Show |
1 | a0002c0003t0019g0089 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.1444+165_1444+174d others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | ATCTCTCT others(5): Show |
1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1444+163_1444+174d others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
A | C | 13 | a0001c0001t0005g0026a0001c0001t0005g0055a0001c0001t0006g0079others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1444+143A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645653 | ||||||
| chr5:43645653
|
ATC | A | 9 | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0030others(6): Show | 9 | HG01109.hp1 HG02280.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.1444+173_1444+174d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
ATCTC | A | 18 | a0001c0001t0001g0014a0001c0001t0001g0051a0001c0001t0003g0001others(15): Show | 19 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(16): Show |
intron_variant | MODIFIER | c.1444+171_1444+174d others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645653
|
ATCTCTCT others(3): Show |
A | 3 | a0001c0001t0001g0029a0001c0001t0001g0032a0009c0014t0004g0118 | 3 | HG01361.hp1 HG03130.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1444+165_1444+174d others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645653 | |||||
| chr5:43645657
|
C | A | 19 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(16): Show | 19 | HG01167.hp2 HG02257.hp2 HG02572.hp2 others(16): Show |
intron_variant | MODIFIER | c.1444+147C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645657 | ||||||
| chr5:43645659
|
C | A | 1 | a0001c0004t0007g0124 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1444+149C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645659 | ||||||
| chr5:43645661
|
C | A | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1444+151C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645661 | ||||||
| chr5:43645673
|
C | A | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1444+163C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645673 | ||||||
| chr5:43645675
|
C | A | 2 | a0001c0001t0003g0042a0004c0007t0010g0003 | 2 | HG02809.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.1444+165C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645675 | ||||||
| chr5:43645677
|
C | A | 4 | a0001c0001t0003g0042a0001c0001t0003g0050a0001c0004t0004g0117others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+167C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645677 | ||||||
| chr5:43645679
|
C | A | 20 | a0001c0001t0001g0011a0001c0001t0001g0052a0001c0001t0003g0034others(17): Show | 20 | HG00544.hp2 HG02257.hp2 HG02615.hp2 others(17): Show |
intron_variant | MODIFIER | c.1444+169C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645679 | ||||||
| chr5:43645679
|
CTCTCTA | C | 4 | a0001c0001t0005g0027a0001c0001t0005g0053a0001c0001t0005g0056others(1): Show | 4 | HG02622.hp1 HG02922.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+171_1444+176d others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645679 | |||||
| chr5:43645681
|
C | A | 46 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0052others(43): Show | 46 | HG00544.hp2 HG00639.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.1444+171C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645681 | ||||||
| chr5:43645681
|
C | CTA | 3 | a0001c0002t0001g0157a0001c0002t0001g0158a0001c0002t0001g0186 | 3 | NA18953.hp1 NA18970.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.1444+172_1444+173i others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645681 | |||||
| chr5:43645683
|
C | A | 81 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(78): Show | 82 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.1444+173C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645683 | ||||||
| chr5:43645683
|
C | CTA | 2 | a0001c0001t0006g0079a0001c0002t0001g0142 | 2 | HG02451.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.1444+199_1444+200d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTATA | 2 | a0001c0002t0001g0161a0001c0002t0001g0182 | 2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.1444+197_1444+200d others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTAT others(7): Show |
1 | a0002c0003t0012g0100 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1444+174_1444+175i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTAT others(9): Show |
1 | a0002c0003t0011g0099 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1444+174_1444+175i others(18): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(5): Show |
1 | a0002c0003t0002g0102 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1444+174_1444+175i others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(5): Show |
3 | a0002c0003t0002g0092a0002c0003t0002g0094a0002c0003t0002g0095 | 3 | HG03834.hp2 NA19003.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(7): Show |
3 | a0002c0003t0002g0093a0002c0003t0002g0101a0002c0003t0012g0107 | 3 | HG00544.hp1 NA18941.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(6): Show |
1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1444+174_1444+175i others(15): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(7): Show |
2 | a0002c0003t0002g0087a0002c0003t0011g0096 | 2 | HG02071.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(7): Show |
3 | a0002c0003t0002g0088a0002c0003t0002g0097a0002c0003t0002g0108 | 3 | HG01069.hp1 NA19065.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(9): Show |
1 | a0002c0003t0002g0103 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1444+174_1444+175i others(18): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(9): Show |
3 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0105 | 3 | HG01981.hp1 HG03927.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(18): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
C | CTCTCTCT others(11): Show |
2 | a0002c0003t0002g0104a0002c0015t0002g0086 | 2 | HG01070.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.1444+174_1444+175i others(20): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645683
|
CTA | C | 10 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0025others(7): Show | 10 | HG01891.hp2 HG02818.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1444+199_1444+200d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645683 | |||||
| chr5:43645685
|
A | C | 18 | a0001c0001t0001g0031a0001c0001t0001g0072a0001c0001t0003g0023others(15): Show | 18 | HG01074.hp1 HG01109.hp2 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.1444+175A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645685 | ||||||
| chr5:43645687
|
A | C | 7 | a0001c0001t0001g0012a0001c0001t0001g0072a0001c0001t0006g0115others(4): Show | 7 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.1444+177A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645687 | ||||||
| chr5:43645702
|
TA | T | 2 | a0004c0007t0010g0004a0008c0012t0010g0045 | 2 | HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1444+193delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645702 | ||||||
| chr5:43645702
|
TATATATA | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0008 | 2 | HG02723.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1444+193_1444+199d others(9): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645702 | ||||||
| chr5:43645704
|
TATA | T | 2 | a0001c0001t0001g0011a0001c0001t0003g0050 | 2 | HG03486.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.1444+195_1444+197d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645704 | ||||||
| chr5:43645705
|
A | T | 2 | a0004c0007t0010g0004a0008c0012t0010g0045 | 2 | HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1444+195A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645705 | ||||||
| chr5:43645705
|
ATATAT | A | 8 | a0001c0001t0001g0084a0001c0004t0004g0120a0001c0004t0004g0121others(5): Show | 8 | HG01167.hp2 HG02572.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1444+197_1444+201d others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645705 | |||||
| chr5:43645706
|
TA | T | 4 | a0001c0001t0005g0056a0001c0001t0006g0113a0001c0001t0006g0114others(1): Show | 4 | HG01346.hp2 HG02818.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+197delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645706 | ||||||
| chr5:43645706
|
TATA | T | 8 | a0001c0001t0001g0009a0001c0001t0005g0010a0001c0001t0027g0054others(5): Show | 8 | HG01074.hp2 HG01175.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.1444+197_1444+199d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645706 | ||||||
| chr5:43645707
|
A | AT | 2 | a0001c0001t0006g0111a0001c0002t0022g0151 | 2 | HG03098.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.1444+198dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645707 | |||||
| chr5:43645707
|
A | T | 7 | a0001c0001t0001g0014a0001c0001t0006g0109a0001c0002t0001g0175others(4): Show | 7 | HG01255.hp1 HG02809.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1444+197A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645707 | ||||||
| chr5:43645707
|
ATAT | A | 7 | a0001c0001t0005g0066a0001c0004t0004g0129a0001c0004t0004g0130others(4): Show | 7 | HG01169.hp2 HG02717.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.1444+199_1444+201d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645707 | |||||
| chr5:43645708
|
TA | T | 10 | a0001c0001t0001g0028a0001c0001t0001g0052a0001c0001t0001g0068others(7): Show | 10 | HG02109.hp1 HG02109.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.1444+199delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645708 | ||||||
| chr5:43645709
|
A | AT | 20 | a0001c0001t0014g0137a0001c0002t0001g0153a0001c0002t0008g0168others(17): Show | 20 | HG00544.hp1 HG00544.hp2 HG01069.hp1 others(17): Show |
intron_variant | MODIFIER | c.1444+222dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645709 | |||||
| chr5:43645709
|
A | ATATATAT others(7): Show |
1 | a0002c0003t0002g0098 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1444+200_1444+201i others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645709 | |||||
| chr5:43645709
|
A | T | 46 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0031others(43): Show | 47 | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.1444+199A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645709 | ||||||
| chr5:43645709
|
AT | A | 11 | a0001c0001t0006g0071a0001c0001t0024g0017a0001c0002t0001g0141others(8): Show | 11 | HG01516.hp1 HG01516.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1444+222delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43645709 | |||||
| chr5:43645710
|
T | TA | 2 | a0001c0001t0006g0139a0001c0002t0001g0174 | 2 | HG02886.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.1444+200_1444+201i others(3): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645710 | ||||||
| chr5:43645710
|
T | TATA | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1444+200_1444+201i others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645710 | ||||||
| chr5:43645711
|
T | A | 10 | a0001c0001t0001g0030a0001c0001t0001g0072a0001c0002t0001g0142others(7): Show | 10 | HG01069.hp2 HG01071.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.1444+201T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645711 | ||||||
| chr5:43645712
|
T | A | 3 | a0001c0001t0006g0071a0001c0002t0001g0147a0001c0004t0004g0128 | 3 | HG02451.hp2 HG03540.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1444+202T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645712 | ||||||
| chr5:43645713
|
T | A | 1 | a0001c0002t0001g0157 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1444+203T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645713 | ||||||
| chr5:43645912
|
A | T | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1444+402A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645912 | ||||||
| chr5:43645945
|
C | T | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1444+435C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43645945 | ||||||
| chr5:43646171
|
G | A | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1444+661G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646171 | ||||||
| chr5:43646320
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1444+810T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646320 | ||||||
| chr5:43646343
|
T | A | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+833T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646343 | ||||||
| chr5:43646354
|
C | T | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1444+844C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646354 | ||||||
| chr5:43646446
|
C | T | 5 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(2): Show | 5 | HG02809.hp2 HG02818.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1444+936C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646446 | ||||||
| chr5:43646464
|
A | AT | 14 | a0001c0001t0001g0011a0001c0001t0006g0079a0001c0001t0006g0109others(11): Show | 14 | HG00597.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.1444+969dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43646464 | |||||
| chr5:43646530
|
C | T | 1 | a0001c0002t0001g0178 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1444+1020C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646530 | ||||||
| chr5:43646537
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1444+1027G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646537 | ||||||
| chr5:43646960
|
A | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1444+1450A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646960 | ||||||
| chr5:43646966
|
G | T | 1 | a0002c0003t0002g0092 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1444+1456G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43646966 | ||||||
| chr5:43647067
|
G | T | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1444+1557G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647067 | ||||||
| chr5:43647105
|
G | A | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1444+1595G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647105 | ||||||
| chr5:43647118
|
C | T | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1444+1608C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647118 | ||||||
| chr5:43647142
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1444+1632G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647142 | ||||||
| chr5:43647299
|
T | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1444+1789T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647299 | ||||||
| chr5:43647483
|
A | G | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1445-1664A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647483 | ||||||
| chr5:43647607
|
T | C | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1445-1540T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647607 | ||||||
| chr5:43647661
|
G | A | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1445-1486G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647661 | ||||||
| chr5:43647677
|
T | A | 1 | a0001c0001t0027g0054 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1445-1470T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647677 | ||||||
| chr5:43647698
|
G | A | 29 | a0001c0002t0010g0184a0001c0011t0004g0123a0002c0003t0002g0087others(26): Show | 29 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(26): Show |
intron_variant | MODIFIER | c.1445-1449G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647698 | ||||||
| chr5:43647862
|
T | C | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1445-1285T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647862 | ||||||
| chr5:43647894
|
C | CAA | 65 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(62): Show | 65 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.1445-1252_1445-125 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | 43647894 | |||||
| chr5:43647992
|
C | A | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1445-1155C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647992 | ||||||
| chr5:43647993
|
C | T | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1445-1154C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43647993 | ||||||
| chr5:43648019
|
A | C | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1445-1128A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648019 | ||||||
| chr5:43648073
|
C | T | 1 | a0001c0002t0001g0177 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1445-1074C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648073 | ||||||
| chr5:43648257
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1445-890A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648257 | ||||||
| chr5:43648414
|
C | T | 1 | a0001c0002t0001g0185 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1445-733C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648414 | ||||||
| chr5:43648470
|
A | G | 1 | a0001c0005t0023g0136 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1445-677A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648470 | ||||||
| chr5:43648595
|
T | C | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1445-552T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648595 | ||||||
| chr5:43648604
|
C | T | 1 | a0003c0006t0005g0074 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1445-543C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648604 | ||||||
| chr5:43648724
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1445-423G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648724 | ||||||
| chr5:43648759
|
G | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1445-388G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648759 | ||||||
| chr5:43648802
|
A | G | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1445-345A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648802 | ||||||
| chr5:43648808
|
G | T | 2 | a0002c0003t0002g0087a0002c0003t0002g0088 | 2 | NA18943.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.1445-339G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648808 | ||||||
| chr5:43648812
|
A | G | 65 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(62): Show | 65 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.1445-335A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648812 | ||||||
| chr5:43648939
|
G | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1445-208G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 10/21 | chr5 | 43648939 | ||||||
| chr5:43649458
|
C | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1606+150C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649458 | ||||||
| chr5:43649465
|
AG | A | 23 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(20): Show | 23 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.1606+160delG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr5 | 43649465 | |||||
| chr5:43649499
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1606+191C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649499 | ||||||
| chr5:43649503
|
G | A | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1606+195G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649503 | ||||||
| chr5:43649571
|
T | G | 1 | a0001c0001t0006g0109 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1606+263T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649571 | ||||||
| chr5:43649577
|
C | CT | 6 | a0001c0002t0010g0184a0001c0011t0004g0123a0002c0003t0002g0104others(3): Show | 6 | HG01069.hp1 HG01070.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.1606+284dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr5 | 43649577 | |||||
| chr5:43649577
|
C | CTT | 22 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(19): Show | 22 | HG00544.hp1 HG01981.hp1 HG02071.hp1 others(19): Show |
intron_variant | MODIFIER | c.1606+283_1606+284d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr5 | 43649577 | |||||
| chr5:43649671
|
C | T | 2 | a0001c0005t0004g0133a0001c0005t0004g0135 | 2 | HG02976.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1606+363C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649671 | ||||||
| chr5:43649681
|
A | G | 1 | a0002c0003t0002g0093 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.1606+373A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649681 | ||||||
| chr5:43649775
|
G | A | 1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1606+467G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649775 | ||||||
| chr5:43649804
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1606+496G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43649804 | ||||||
| chr5:43650158
|
G | A | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1607-319G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43650158 | ||||||
| chr5:43650187
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1607-290C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43650187 | ||||||
| chr5:43650212
|
A | G | 2 | a0002c0003t0002g0098a0002c0003t0011g0099 | 2 | HG02165.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.1607-265A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43650212 | ||||||
| chr5:43650391
|
A | G | 1 | a0001c0001t0003g0050 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1607-86A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 11/21 | chr5 | 43650391 | ||||||
| chr5:43650633
|
T | C | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.1717+46T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43650633 | ||||||
| chr5:43650688
|
T | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1717+101T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43650688 | ||||||
| chr5:43650714
|
T | G | 41 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(38): Show | 41 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.1717+127T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43650714 | ||||||
| chr5:43650843
|
T | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1717+256T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43650843 | ||||||
| chr5:43650876
|
C | T | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1717+289C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43650876 | ||||||
| chr5:43651266
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1718-473G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651266 | ||||||
| chr5:43651296
|
G | T | 1 | a0001c0001t0005g0010 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1718-443G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651296 | ||||||
| chr5:43651321
|
G | C | 1 | a0001c0004t0004g0130 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1718-418G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651321 | ||||||
| chr5:43651395
|
G | T | 3 | a0001c0001t0003g0001a0001c0001t0003g0023a0001c0001t0003g0047 | 4 | HG01070.hp2 HG01071.hp1 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.1718-344G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651395 | ||||||
| chr5:43651401
|
A | AC | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1718-332dupC | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr5 | 43651401 | |||||
| chr5:43651407
|
C | A | 1 | a0001c0001t0015g0033 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1718-332C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651407 | ||||||
| chr5:43651423
|
C | A | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.1718-316C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651423 | ||||||
| chr5:43651446
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1718-293C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651446 | ||||||
| chr5:43651542
|
C | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1718-197C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651542 | ||||||
| chr5:43651726
|
T | G | 1 | a0001c0004t0004g0119 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1718-13T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 12/21 | chr5 | 43651726 | ||||||
| chr5:43651942
|
T | TAATC | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1863+58_1863+59ins others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43651942 | ||||||
| chr5:43651970
|
G | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1863+86G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43651970 | ||||||
| chr5:43652330
|
A | G | 2 | a0004c0007t0010g0004a0008c0012t0010g0045 | 2 | HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1863+446A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652330 | ||||||
| chr5:43652493
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.1864-525A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652493 | ||||||
| chr5:43652527
|
AT | A | 21 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0025others(18): Show | 21 | HG02109.hp1 HG02257.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.1864-475delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr5 | 43652527 | |||||
| chr5:43652714
|
A | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.1864-304A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652714 | ||||||
| chr5:43652739
|
C | A | 1 | a0001c0001t0003g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1864-279C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652739 | ||||||
| chr5:43652851
|
A | G | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1864-167A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652851 | ||||||
| chr5:43652941
|
C | T | 1 | a0001c0001t0009g0076 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1864-77C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652941 | ||||||
| chr5:43652962
|
C | T | 16 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0093others(13): Show | 16 | HG00544.hp1 HG02071.hp1 HG02074.hp2 others(13): Show |
intron_variant | MODIFIER | c.1864-56C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 13/21 | chr5 | 43652962 | ||||||
| chr5:43653580
|
G | GA | 39 | a0001c0001t0003g0041a0001c0001t0006g0071a0001c0001t0006g0079others(36): Show | 39 | HG00597.hp1 HG00597.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.2059+384dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr5 | 43653580 | |||||
| chr5:43653580
|
GA | G | 28 | a0001c0001t0003g0078a0001c0001t0005g0026a0001c0002t0013g0181others(25): Show | 28 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.2059+384delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr5 | 43653580 | |||||
| chr5:43653936
|
C | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2059+723C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43653936 | ||||||
| chr5:43653970
|
A | T | 43 | a0001c0001t0001g0057a0001c0001t0001g0083a0001c0001t0006g0079others(40): Show | 43 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.2059+757A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43653970 | ||||||
| chr5:43654713
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2060-1127T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43654713 | ||||||
| chr5:43654825
|
C | T | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2060-1015C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43654825 | ||||||
| chr5:43654874
|
T | C | 9 | a0001c0001t0005g0010a0001c0001t0024g0017a0001c0001t0027g0054others(6): Show | 9 | HG01074.hp2 HG01361.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.2060-966T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43654874 | ||||||
| chr5:43655126
|
T | C | 1 | a0001c0002t0002g0163 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2060-714T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655126 | ||||||
| chr5:43655139
|
G | A | 9 | a0001c0001t0005g0010a0001c0001t0024g0017a0001c0001t0027g0054others(6): Show | 9 | HG01074.hp2 HG01361.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.2060-701G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655139 | ||||||
| chr5:43655267
|
G | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2060-573G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655267 | ||||||
| chr5:43655583
|
T | C | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2060-257T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655583 | ||||||
| chr5:43655605
|
A | G | 1 | a0001c0001t0009g0076 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2060-235A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655605 | ||||||
| chr5:43655719
|
G | A | 25 | a0001c0001t0003g0078a0002c0003t0002g0087a0002c0003t0002g0088others(22): Show | 25 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.2060-121G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 14/21 | chr5 | 43655719 | ||||||
| chr5:43656223
|
C | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2293+150C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 15/21 | chr5 | 43656223 | ||||||
| chr5:43656228
|
C | G | 1 | a0001c0002t0008g0180 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2293+155C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 15/21 | chr5 | 43656228 | ||||||
| chr5:43656475
|
G | C | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2294-178G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 15/21 | chr5 | 43656475 | ||||||
| chr5:43656550
|
A | G | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2294-103A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 15/21 | chr5 | 43656550 | ||||||
| chr5:43656863
|
A | G | 1 | a0001c0001t0001g0063 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2454+50A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43656863 | ||||||
| chr5:43657145
|
A | G | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2454+332A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657145 | ||||||
| chr5:43657277
|
C | G | 3 | a0001c0001t0006g0079a0001c0001t0006g0115a0001c0001t0006g0116 | 3 | HG01167.hp1 HG01169.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.2454+464C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657277 | ||||||
| chr5:43657335
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2454+522T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657335 | ||||||
| chr5:43657336
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2454+523T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657336 | ||||||
| chr5:43657442
|
C | G | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2454+629C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657442 | ||||||
| chr5:43657513
|
TA | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2454+707delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr5 | 43657513 | |||||
| chr5:43657551
|
A | G | 7 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(4): Show | 7 | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2454+738A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657551 | ||||||
| chr5:43657722
|
T | A | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2454+909T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657722 | ||||||
| chr5:43657792
|
T | C | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2454+979T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657792 | ||||||
| chr5:43657929
|
G | A | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2454+1116G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657929 | ||||||
| chr5:43657949
|
G | A | 65 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(62): Show | 65 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.2454+1136G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657949 | ||||||
| chr5:43657964
|
G | A | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2454+1151G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657964 | ||||||
| chr5:43657966
|
C | T | 1 | a0001c0002t0001g0173 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.2454+1153C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657966 | ||||||
| chr5:43657997
|
T | A | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2455-1174T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43657997 | ||||||
| chr5:43658102
|
T | G | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2455-1069T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658102 | ||||||
| chr5:43658161
|
A | G | 1 | a0001c0002t0008g0171 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2455-1010A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658161 | ||||||
| chr5:43658205
|
C | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2455-966C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658205 | ||||||
| chr5:43658355
|
TA | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2455-811delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr5 | 43658355 | |||||
| chr5:43658381
|
A | C | 65 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(62): Show | 65 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.2455-790A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658381 | ||||||
| chr5:43658409
|
C | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2455-762C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658409 | ||||||
| chr5:43658651
|
G | A | 1 | a0005c0016t0005g0044 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2455-520G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658651 | ||||||
| chr5:43658962
|
T | G | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2455-209T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43658962 | ||||||
| chr5:43659034
|
C | A | 1 | a0001c0001t0003g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2455-137C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 16/21 | chr5 | 43659034 | ||||||
| chr5:43659468
|
C | T | 4 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0105others(1): Show | 4 | HG01069.hp1 HG01981.hp1 HG03927.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+118C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43659468 | ||||||
| chr5:43659469
|
A | G | 53 | a0001c0002t0010g0184a0001c0004t0004g0117a0001c0004t0004g0119others(50): Show | 53 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.2634+119A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43659469 | ||||||
| chr5:43659561
|
T | TC | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+212dupC | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43659561 | |||||
| chr5:43659681
|
C | G | 1 | a0001c0002t0001g0164 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2634+331C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43659681 | ||||||
| chr5:43660314
|
T | TAAA | 48 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(45): Show | 48 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.2634+966_2634+968d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43660314 | |||||
| chr5:43660381
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+1031T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660381 | ||||||
| chr5:43660433
|
CT | C | 48 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(45): Show | 48 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.2634+1092delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43660433 | |||||
| chr5:43660540
|
A | G | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2634+1190A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660540 | ||||||
| chr5:43660611
|
T | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+1261T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660611 | ||||||
| chr5:43660712
|
T | C | 1 | a0001c0002t0001g0154 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.2634+1362T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660712 | ||||||
| chr5:43660756
|
T | G | 2 | a0003c0006t0005g0077a0003c0006t0005g0082 | 2 | NA18971.hp2 NA19075.hp2 |
intron_variant | MODIFIER | c.2634+1406T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660756 | ||||||
| chr5:43660764
|
C | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+1414C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660764 | ||||||
| chr5:43660871
|
C | T | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2634+1521C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43660871 | ||||||
| chr5:43661109
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2634+1759C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661109 | ||||||
| chr5:43661116
|
AG | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+1770delG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661116 | |||||
| chr5:43661389
|
T | TTTTA | 8 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(5): Show | 8 | HG01070.hp1 HG01993.hp2 HG06807.hp2 others(5): Show |
intron_variant | MODIFIER | c.2634+2067_2634+207 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661389
|
T | TTTTATTT others(1): Show |
8 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(5): Show | 8 | HG01069.hp1 HG01981.hp1 HG03669.hp1 others(5): Show |
intron_variant | MODIFIER | c.2634+2063_2634+207 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661389
|
T | TTTTATTT others(5): Show |
11 | a0002c0003t0002g0092a0002c0003t0002g0093a0002c0003t0002g0094others(8): Show | 11 | HG02071.hp1 HG02074.hp2 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.2634+2059_2634+207 others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661389
|
T | TTTTATTT others(9): Show |
2 | a0002c0003t0002g0101a0002c0003t0012g0107 | 2 | HG00544.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.2634+2055_2634+207 others(20): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661389
|
TTTTA | T | 18 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(15): Show | 18 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.2634+2067_2634+207 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661389
|
TTTTATTT others(1): Show |
T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+2063_2634+207 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43661389 | |||||
| chr5:43661652
|
C | T | 41 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(38): Show | 41 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.2634+2302C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661652 | ||||||
| chr5:43661655
|
T | G | 41 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(38): Show | 41 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.2634+2305T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661655 | ||||||
| chr5:43661656
|
C | T | 41 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(38): Show | 41 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.2634+2306C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661656 | ||||||
| chr5:43661726
|
C | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG01175.hp2 HG01891.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.2634+2376C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661726 | ||||||
| chr5:43661813
|
G | T | 1 | a0001c0002t0001g0179 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2634+2463G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661813 | ||||||
| chr5:43661872
|
T | C | 25 | a0001c0001t0006g0139a0002c0003t0002g0087a0002c0003t0002g0088others(22): Show | 25 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.2634+2522T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661872 | ||||||
| chr5:43661928
|
G | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2634+2578G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43661928 | ||||||
| chr5:43662132
|
T | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+2782T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43662132 | ||||||
| chr5:43662339
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2634+2989G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43662339 | ||||||
| chr5:43662566
|
T | A | 1 | a0003c0006t0005g0074 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2634+3216T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43662566 | ||||||
| chr5:43662893
|
C | CA | 9 | a0001c0002t0001g0166a0001c0002t0002g0163a0001c0002t0010g0184others(6): Show | 9 | HG02071.hp2 HG02809.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.2634+3560dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43662893 | |||||
| chr5:43662893
|
C | CAA | 23 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(20): Show | 23 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.2634+3559_2634+356 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43662893 | |||||
| chr5:43662893
|
CA | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0113others(6): Show | 9 | HG01243.hp1 HG01346.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.2634+3560delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43662893 | |||||
| chr5:43663352
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2634+4002C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663352 | ||||||
| chr5:43663479
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+4129G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663479 | ||||||
| chr5:43663538
|
G | A | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2634+4188G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663538 | ||||||
| chr5:43663569
|
T | C | 1 | a0001c0002t0010g0184 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2634+4219T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663569 | ||||||
| chr5:43663616
|
C | T | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2634+4266C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663616 | ||||||
| chr5:43663617
|
G | A | 1 | a0001c0001t0003g0050 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2634+4267G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663617 | ||||||
| chr5:43663629
|
A | C | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2634+4279A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663629 | ||||||
| chr5:43663711
|
A | C | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2634+4361A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663711 | ||||||
| chr5:43663781
|
G | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+4431G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663781 | ||||||
| chr5:43663900
|
T | C | 23 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(20): Show | 23 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.2634+4550T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43663900 | ||||||
| chr5:43664045
|
T | C | 1 | a0001c0001t0001g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2634+4695T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664045 | ||||||
| chr5:43664061
|
A | AC | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+4715dupC | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43664061 | |||||
| chr5:43664294
|
G | A | 5 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG02717.hp1 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+4944G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664294 | ||||||
| chr5:43664314
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+4964G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664314 | ||||||
| chr5:43664519
|
C | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+5169C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664519 | ||||||
| chr5:43664549
|
A | G | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2634+5199A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664549 | ||||||
| chr5:43664676
|
CTGT | C | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2634+5328_2634+533 others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43664676 | |||||
| chr5:43664729
|
C | A | 4 | a0001c0001t0009g0020a0001c0001t0009g0024a0001c0001t0009g0035others(1): Show | 4 | HG00741.hp1 HG02602.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.2634+5379C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664729 | ||||||
| chr5:43664760
|
A | G | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2634+5410A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664760 | ||||||
| chr5:43664764
|
C | G | 6 | a0001c0001t0017g0037a0001c0002t0008g0168a0001c0002t0008g0169others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.2634+5414C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664764 | ||||||
| chr5:43664908
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2634+5558C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43664908 | ||||||
| chr5:43665136
|
G | A | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+5786G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665136 | ||||||
| chr5:43665183
|
T | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+5833T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665183 | ||||||
| chr5:43665214
|
ATTTAT | A | 3 | a0001c0001t0014g0137a0001c0001t0014g0138a0001c0001t0016g0112 | 3 | HG02109.hp1 HG02257.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.2634+5867_2634+587 others(9): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665214 | |||||
| chr5:43665215
|
T | TTATTATT others(1): Show |
2 | a0004c0007t0010g0004a0008c0012t0010g0045 | 2 | HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.2634+5866_2634+586 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665215 | |||||
| chr5:43665216
|
T | TA | 4 | a0001c0001t0006g0109a0001c0001t0006g0139a0001c0011t0004g0123others(1): Show | 4 | HG02809.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+5866_2634+586 others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665216 | ||||||
| chr5:43665216
|
TTA | T | 57 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0111others(54): Show | 57 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(54): Show |
intron_variant | MODIFIER | c.2634+5868_2634+586 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665216 | |||||
| chr5:43665218
|
A | T | 4 | a0001c0001t0006g0109a0001c0001t0006g0139a0001c0011t0004g0123others(1): Show | 4 | HG02809.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+5868A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665218 | ||||||
| chr5:43665219
|
T | A | 61 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(58): Show | 61 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.2634+5869T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665219 | ||||||
| chr5:43665219
|
T | TTA | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2634+5870_2634+587 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665219 | |||||
| chr5:43665221
|
T | A | 1 | a0001c0002t0001g0179 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2634+5871T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665221 | ||||||
| chr5:43665234
|
A | T | 15 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(12): Show | 15 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.2634+5884A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665234 | ||||||
| chr5:43665237
|
A | T | 15 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(12): Show | 15 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.2634+5887A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665237 | ||||||
| chr5:43665240
|
A | T | 46 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121others(43): Show | 46 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.2634+5890A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665240 | ||||||
| chr5:43665491
|
C | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+6141C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665491 | ||||||
| chr5:43665686
|
T | C | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6336T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665686 | ||||||
| chr5:43665705
|
G | A | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6355G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665705 | ||||||
| chr5:43665710
|
C | T | 24 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(21): Show | 25 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(22): Show |
intron_variant | MODIFIER | c.2634+6360C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665710 | ||||||
| chr5:43665711
|
G | A | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2634+6361G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665711 | ||||||
| chr5:43665718
|
TGGCCC | T | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6370_2634+637 others(9): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665718 | |||||
| chr5:43665732
|
G | T | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6382G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665732 | ||||||
| chr5:43665738
|
G | A | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6388G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665738 | ||||||
| chr5:43665757
|
C | T | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6407C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665757 | ||||||
| chr5:43665765
|
T | C | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6415T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665765 | ||||||
| chr5:43665780
|
G | GCTC | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6431_2634+643 others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665780 | |||||
| chr5:43665794
|
C | T | 24 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(21): Show | 25 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(22): Show |
intron_variant | MODIFIER | c.2634+6444C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665794 | ||||||
| chr5:43665804
|
A | G | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6454A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665804 | ||||||
| chr5:43665813
|
C | CA | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6463_2634+646 others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665813 | ||||||
| chr5:43665814
|
G | A | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6464G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665814 | ||||||
| chr5:43665816
|
A | C | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6466A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665816 | ||||||
| chr5:43665819
|
C | T | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6469C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665819 | ||||||
| chr5:43665827
|
T | C | 90 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(87): Show | 91 | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.2634+6477T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665827 | ||||||
| chr5:43665828
|
G | A | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6478G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665828 | ||||||
| chr5:43665831
|
C | G | 23 | a0001c0001t0001g0014a0001c0001t0003g0001a0001c0001t0003g0021others(20): Show | 24 | HG00597.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6481C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665831 | ||||||
| chr5:43665874
|
G | A | 1 | a0001c0001t0005g0055 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2634+6524G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665874 | ||||||
| chr5:43665885
|
C | T | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2634+6535C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665885 | ||||||
| chr5:43665913
|
C | CG | 18 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0003g0021others(15): Show | 18 | HG00597.hp1 HG00741.hp1 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.2634+6567dupG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43665913 | |||||
| chr5:43665959
|
C | T | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2634+6609C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665959 | ||||||
| chr5:43665962
|
G | A | 25 | a0001c0011t0004g0123a0002c0003t0002g0087a0002c0003t0002g0088others(22): Show | 25 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.2634+6612G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665962 | ||||||
| chr5:43665963
|
C | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2634+6613C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665963 | ||||||
| chr5:43665993
|
C | T | 5 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(2): Show | 5 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2634+6643C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665993 | ||||||
| chr5:43665996
|
G | T | 1 | a0001c0001t0005g0055 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2634+6646G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43665996 | ||||||
| chr5:43666004
|
G | A | 1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2634+6654G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666004 | ||||||
| chr5:43666030
|
C | T | 33 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(30): Show | 33 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(30): Show |
intron_variant | MODIFIER | c.2634+6680C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666030 | ||||||
| chr5:43666038
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6688G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666038 | ||||||
| chr5:43666076
|
ACGGCCGG others(30): Show |
A | 1 | a0001c0001t0001g0063 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2634+6735_2634+677 others(41): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43666076 | |||||
| chr5:43666163
|
G | C | 2 | a0001c0002t0001g0159a0001c0002t0001g0174 | 2 | NA18943.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.2634+6813G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666163 | ||||||
| chr5:43666217
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6867G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666217 | ||||||
| chr5:43666251
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+6901G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666251 | ||||||
| chr5:43666320
|
C | T | 1 | a0002c0003t0002g0092 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2634+6970C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666320 | ||||||
| chr5:43666363
|
G | A | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG06807.hp2 NA18522.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2634+7013G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666363 | ||||||
| chr5:43666561
|
C | T | 1 | a0003c0010t0005g0036 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2634+7211C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666561 | ||||||
| chr5:43666570
|
G | A | 110 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(107): Show | 110 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(107): Show |
intron_variant | MODIFIER | c.2634+7220G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666570 | ||||||
| chr5:43666614
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+7264G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666614 | ||||||
| chr5:43666633
|
A | AT | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2634+7294dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43666633 | |||||
| chr5:43666720
|
TG | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2634+7376delG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43666720 | |||||
| chr5:43666786
|
G | A | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2634+7436G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666786 | ||||||
| chr5:43666908
|
A | G | 69 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(66): Show | 69 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(66): Show |
intron_variant | MODIFIER | c.2634+7558A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666908 | ||||||
| chr5:43666961
|
C | T | 1 | a0001c0001t0009g0076 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2634+7611C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43666961 | ||||||
| chr5:43667031
|
G | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2634+7681G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667031 | ||||||
| chr5:43667157
|
A | AT | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2634+7808dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43667157 | |||||
| chr5:43667192
|
C | T | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2634+7842C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667192 | ||||||
| chr5:43667205
|
G | A | 23 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(20): Show | 23 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.2634+7855G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667205 | ||||||
| chr5:43667312
|
T | G | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2634+7962T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667312 | ||||||
| chr5:43667602
|
C | A | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2635-7909C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667602 | ||||||
| chr5:43667682
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2635-7829G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667682 | ||||||
| chr5:43667768
|
C | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-7743C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667768 | ||||||
| chr5:43667810
|
T | TA | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-7700dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43667810 | |||||
| chr5:43667838
|
C | T | 1 | a0001c0002t0008g0171 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2635-7673C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667838 | ||||||
| chr5:43667889
|
T | G | 2 | a0003c0006t0005g0077a0003c0006t0005g0082 | 2 | NA18971.hp2 NA19075.hp2 |
intron_variant | MODIFIER | c.2635-7622T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667889 | ||||||
| chr5:43667920
|
A | T | 27 | a0001c0002t0001g0152a0001c0002t0002g0163a0001c0002t0013g0181others(24): Show | 27 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.2635-7591A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667920 | ||||||
| chr5:43667922
|
C | T | 1 | a0001c0002t0001g0152 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.2635-7589C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667922 | ||||||
| chr5:43667958
|
A | G | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2635-7553A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667958 | ||||||
| chr5:43667995
|
C | T | 180 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(177): Show | 181 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(178): Show |
intron_variant | MODIFIER | c.2635-7516C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43667995 | ||||||
| chr5:43668244
|
G | GT | 22 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(19): Show | 22 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.2635-7252dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43668244 | |||||
| chr5:43668244
|
G | GTT | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0004others(2): Show | 5 | HG02970.hp2 HG03195.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-7253_2635-725 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43668244 | |||||
| chr5:43668244
|
G | T | 1 | a0001c0004t0004g0129 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2635-7267G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668244 | ||||||
| chr5:43668244
|
GT | G | 125 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 126 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(123): Show |
intron_variant | MODIFIER | c.2635-7252delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43668244 | |||||
| chr5:43668270
|
A | G | 1 | a0001c0002t0001g0149 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.2635-7241A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668270 | ||||||
| chr5:43668313
|
T | A | 1 | a0002c0003t0002g0092 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2635-7198T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668313 | ||||||
| chr5:43668397
|
G | A | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2635-7114G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668397 | ||||||
| chr5:43668547
|
C | T | 7 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(4): Show | 7 | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2635-6964C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668547 | ||||||
| chr5:43668551
|
T | G | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-6960T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668551 | ||||||
| chr5:43668654
|
C | G | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2635-6857C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668654 | ||||||
| chr5:43668773
|
G | C | 1 | a0001c0001t0005g0066 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2635-6738G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668773 | ||||||
| chr5:43668830
|
A | G | 1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2635-6681A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668830 | ||||||
| chr5:43668849
|
G | C | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2635-6662G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668849 | ||||||
| chr5:43668962
|
C | G | 43 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(40): Show | 43 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.2635-6549C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43668962 | ||||||
| chr5:43669034
|
T | C | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2635-6477T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669034 | ||||||
| chr5:43669060
|
G | C | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2635-6451G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669060 | ||||||
| chr5:43669275
|
T | C | 1 | a0001c0002t0022g0151 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.2635-6236T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669275 | ||||||
| chr5:43669417
|
T | C | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2635-6094T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669417 | ||||||
| chr5:43669599
|
G | A | 1 | a0002c0015t0002g0086 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.2635-5912G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669599 | ||||||
| chr5:43669600
|
T | C | 1 | a0001c0001t0005g0055 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2635-5911T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669600 | ||||||
| chr5:43669720
|
G | A | 1 | a0001c0001t0003g0073 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2635-5791G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669720 | ||||||
| chr5:43669874
|
A | G | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2635-5637A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43669874 | ||||||
| chr5:43669973
|
TATTCAGG others(1): Show |
T | 3 | a0001c0001t0001g0030a0001c0002t0001g0147a0001c0002t0001g0148 | 3 | NA19043.hp1 NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2635-5531_2635-552 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43669973 | |||||
| chr5:43670086
|
T | G | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2635-5425T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670086 | ||||||
| chr5:43670272
|
A | T | 67 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2635-5239A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670272 | ||||||
| chr5:43670288
|
C | T | 1 | a0001c0001t0006g0111 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2635-5223C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670288 | ||||||
| chr5:43670396
|
T | C | 31 | a0001c0002t0002g0163a0001c0002t0010g0184a0001c0002t0013g0181others(28): Show | 31 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.2635-5115T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670396 | ||||||
| chr5:43670400
|
C | G | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2635-5111C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670400 | ||||||
| chr5:43670412
|
G | C | 2 | a0001c0001t0001g0006a0001c0001t0001g0008 | 2 | HG02723.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2635-5099G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670412 | ||||||
| chr5:43670427
|
A | G | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2635-5084A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670427 | ||||||
| chr5:43670485
|
T | C | 7 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0103others(4): Show | 7 | HG01069.hp1 HG01070.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.2635-5026T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670485 | ||||||
| chr5:43670576
|
A | G | 1 | a0009c0014t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2635-4935A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670576 | ||||||
| chr5:43670647
|
G | C | 65 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(62): Show | 65 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.2635-4864G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670647 | ||||||
| chr5:43670656
|
A | G | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-4855A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670656 | ||||||
| chr5:43670740
|
G | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-4771G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670740 | ||||||
| chr5:43670816
|
G | A | 5 | a0001c0002t0001g0142a0001c0002t0001g0145a0001c0002t0001g0157others(2): Show | 5 | HG01981.hp2 NA18953.hp1 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2635-4695G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670816 | ||||||
| chr5:43670906
|
G | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-4605G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670906 | ||||||
| chr5:43670927
|
TG | T | 2 | a0001c0001t0001g0012a0001c0001t0001g0013 | 2 | HG01891.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.2635-4583delG | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670927 | ||||||
| chr5:43670964
|
C | G | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-4547C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43670964 | ||||||
| chr5:43671022
|
C | G | 6 | a0001c0002t0001g0159a0001c0002t0001g0174a0001c0002t0010g0184others(3): Show | 6 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2635-4489C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671022 | ||||||
| chr5:43671153
|
C | T | 1 | a0001c0002t0001g0175 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2635-4358C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671153 | ||||||
| chr5:43671304
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2635-4207G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671304 | ||||||
| chr5:43671335
|
G | A | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2635-4176G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671335 | ||||||
| chr5:43671342
|
A | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-4169A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671342 | ||||||
| chr5:43671350
|
C | G | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-4161C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671350 | ||||||
| chr5:43671415
|
C | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-4096C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671415 | ||||||
| chr5:43671480
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-4031C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671480 | ||||||
| chr5:43671509
|
T | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-4002T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671509 | ||||||
| chr5:43671534
|
G | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3977G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671534 | ||||||
| chr5:43671618
|
C | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3893C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671618 | ||||||
| chr5:43671665
|
A | C | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2635-3846A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671665 | ||||||
| chr5:43671741
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3770T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671741 | ||||||
| chr5:43671857
|
C | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2635-3654C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671857 | ||||||
| chr5:43671923
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3588A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671923 | ||||||
| chr5:43671929
|
C | T | 3 | a0001c0001t0005g0010a0001c0001t0024g0017a0001c0001t0027g0054 | 3 | HG01074.hp2 HG01361.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.2635-3582C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671929 | ||||||
| chr5:43671957
|
A | G | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2635-3554A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671957 | ||||||
| chr5:43671978
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3533C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671978 | ||||||
| chr5:43671979
|
A | G | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2635-3532A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43671979 | ||||||
| chr5:43672013
|
T | C | 3 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0121 | 3 | HG02735.hp1 HG03490.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2635-3498T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672013 | ||||||
| chr5:43672066
|
T | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3445T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672066 | ||||||
| chr5:43672091
|
G | T | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2635-3420G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672091 | ||||||
| chr5:43672209
|
G | T | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2635-3302G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672209 | ||||||
| chr5:43672221
|
G | A | 1 | a0005c0016t0005g0044 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2635-3290G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672221 | ||||||
| chr5:43672228
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3283A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672228 | ||||||
| chr5:43672325
|
G | A | 2 | a0001c0002t0001g0159a0001c0002t0001g0174 | 2 | NA18943.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.2635-3186G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672325 | ||||||
| chr5:43672334
|
C | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-3177C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672334 | ||||||
| chr5:43672395
|
A | G | 1 | a0001c0002t0001g0158 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2635-3116A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672395 | ||||||
| chr5:43672559
|
G | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-2952G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672559 | ||||||
| chr5:43672565
|
G | T | 1 | a0001c0001t0001g0063 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2635-2946G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672565 | ||||||
| chr5:43672576
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-2935A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672576 | ||||||
| chr5:43672724
|
A | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-2787A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672724 | ||||||
| chr5:43672861
|
G | A | 2 | a0001c0001t0006g0139a0001c0002t0001g0005 | 2 | HG02523.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2635-2650G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672861 | ||||||
| chr5:43672938
|
C | T | 1 | a0001c0001t0016g0112 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2635-2573C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43672938 | ||||||
| chr5:43673045
|
C | T | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2635-2466C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673045 | ||||||
| chr5:43673168
|
C | T | 2 | a0001c0001t0005g0066a0005c0016t0005g0044 | 2 | HG01169.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.2635-2343C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673168 | ||||||
| chr5:43673250
|
G | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2635-2261G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673250 | ||||||
| chr5:43673366
|
C | T | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2635-2145C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673366 | ||||||
| chr5:43673377
|
A | T | 1 | a0001c0004t0020g0019 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2635-2134A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673377 | ||||||
| chr5:43673486
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-2025T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673486 | ||||||
| chr5:43673487
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-2024G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673487 | ||||||
| chr5:43673495
|
C | T | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2635-2016C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673495 | ||||||
| chr5:43673564
|
A | T | 5 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0068others(2): Show | 5 | HG02809.hp1 HG03195.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.2635-1947A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673564 | ||||||
| chr5:43673673
|
T | A | 1 | a0001c0001t0003g0038 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2635-1838T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673673 | ||||||
| chr5:43673822
|
T | C | 69 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(66): Show | 69 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(66): Show |
intron_variant | MODIFIER | c.2635-1689T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673822 | ||||||
| chr5:43673942
|
C | T | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2635-1569C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43673942 | ||||||
| chr5:43674019
|
C | CA | 30 | a0001c0001t0003g0022a0001c0001t0006g0079a0001c0002t0001g0005others(27): Show | 30 | HG00544.hp1 HG01070.hp1 HG01981.hp1 others(27): Show |
intron_variant | MODIFIER | c.2635-1476dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | 43674019 | |||||
| chr5:43674110
|
G | A | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2635-1401G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674110 | ||||||
| chr5:43674165
|
T | C | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2635-1346T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674165 | ||||||
| chr5:43674345
|
C | G | 1 | a0002c0003t0002g0104 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2635-1166C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674345 | ||||||
| chr5:43674535
|
A | G | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2635-976A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674535 | ||||||
| chr5:43674554
|
A | T | 1 | a0001c0002t0001g0166 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2635-957A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674554 | ||||||
| chr5:43674683
|
T | C | 2 | a0001c0001t0001g0011a0001c0002t0001g0156 | 2 | HG03486.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2635-828T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674683 | ||||||
| chr5:43674684
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2635-827C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674684 | ||||||
| chr5:43674718
|
A | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2635-793A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674718 | ||||||
| chr5:43674744
|
C | T | 141 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(138): Show | 142 | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(139): Show |
intron_variant | MODIFIER | c.2635-767C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43674744 | ||||||
| chr5:43675090
|
T | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2635-421T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43675090 | ||||||
| chr5:43675215
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2635-296C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43675215 | ||||||
| chr5:43675355
|
A | G | 1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2635-156A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43675355 | ||||||
| chr5:43675390
|
G | A | 3 | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0059 | 3 | HG02109.hp2 HG02976.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.2635-121G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43675390 | ||||||
| chr5:43675417
|
T | A | 1 | a0001c0001t0016g0110 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2635-94T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 17/21 | chr5 | 43675417 | ||||||
| chr5:43675821
|
A | G | 1 | a0001c0004t0007g0125 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2794+151A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43675821 | ||||||
| chr5:43675902
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2794+232G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43675902 | ||||||
| chr5:43676149
|
C | T | 1 | a0002c0003t0019g0089 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2794+479C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676149 | ||||||
| chr5:43676269
|
C | T | 1 | a0003c0006t0005g0074 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2794+599C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676269 | ||||||
| chr5:43676369
|
C | T | 1 | a0001c0002t0001g0153 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2794+699C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676369 | ||||||
| chr5:43676488
|
T | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2794+818T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676488 | ||||||
| chr5:43676527
|
G | A | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2794+857G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676527 | ||||||
| chr5:43676541
|
A | C | 31 | a0001c0002t0002g0163a0001c0002t0010g0184a0001c0002t0013g0181others(28): Show | 31 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.2794+871A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676541 | ||||||
| chr5:43676794
|
T | C | 1 | a0001c0001t0003g0042 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2795-931T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676794 | ||||||
| chr5:43676830
|
G | T | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2795-895G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43676830 | ||||||
| chr5:43677131
|
C | A | 1 | a0009c0014t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2795-594C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677131 | ||||||
| chr5:43677164
|
G | A | 1 | a0001c0001t0016g0112 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2795-561G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677164 | ||||||
| chr5:43677237
|
A | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2795-488A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677237 | ||||||
| chr5:43677282
|
C | T | 14 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0018others(11): Show | 14 | HG01361.hp1 HG02109.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2795-443C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677282 | ||||||
| chr5:43677309
|
A | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2795-416A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677309 | ||||||
| chr5:43677399
|
T | TGA | 2 | a0001c0001t0001g0072a0001c0002t0001g0159 | 2 | HG02717.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.2795-299_2795-298d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr5 | 43677399 | |||||
| chr5:43677399
|
TGAGA | T | 40 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(37): Show | 40 | HG01109.hp1 HG01167.hp1 HG01167.hp2 others(37): Show |
intron_variant | MODIFIER | c.2795-301_2795-298d others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr5 | 43677399 | |||||
| chr5:43677467
|
G | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2795-258G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677467 | ||||||
| chr5:43677651
|
C | A | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2795-74C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 18/21 | chr5 | 43677651 | ||||||
| chr5:43677874
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2876+68G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43677874 | ||||||
| chr5:43677903
|
G | A | 1 | a0001c0002t0001g0177 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2876+97G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43677903 | ||||||
| chr5:43677915
|
C | T | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2876+109C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43677915 | ||||||
| chr5:43678679
|
C | T | 12 | a0001c0002t0001g0142a0001c0002t0001g0143a0001c0002t0001g0145others(9): Show | 12 | HG00597.hp2 HG01069.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.2876+873C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43678679 | ||||||
| chr5:43679063
|
A | G | 6 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(3): Show | 6 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.2876+1257A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679063 | ||||||
| chr5:43679094
|
T | C | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+1288T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679094 | ||||||
| chr5:43679140
|
A | AT | 2 | a0001c0002t0001g0161a0001c0002t0001g0182 | 2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.2876+1335dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43679140 | |||||
| chr5:43679208
|
T | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+1402T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679208 | ||||||
| chr5:43679583
|
C | G | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2876+1777C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679583 | ||||||
| chr5:43679609
|
G | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+1803G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679609 | ||||||
| chr5:43679708
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+1902G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679708 | ||||||
| chr5:43679832
|
C | G | 8 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(5): Show | 8 | HG01109.hp1 HG01891.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.2876+2026C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679832 | ||||||
| chr5:43679838
|
A | G | 1 | a0001c0002t0001g0154 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.2876+2032A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679838 | ||||||
| chr5:43679860
|
A | G | 1 | a0001c0001t0003g0038 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2876+2054A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43679860 | ||||||
| chr5:43680094
|
C | G | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2876+2288C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680094 | ||||||
| chr5:43680113
|
G | T | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2876+2307G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680113 | ||||||
| chr5:43680118
|
C | A | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2876+2312C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680118 | ||||||
| chr5:43680118
|
C | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+2312C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680118 | ||||||
| chr5:43680129
|
A | AT | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+2328dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43680129 | |||||
| chr5:43680141
|
G | A | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2876+2335G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680141 | ||||||
| chr5:43680160
|
A | C | 1 | a0001c0002t0008g0168 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2876+2354A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680160 | ||||||
| chr5:43680314
|
G | A | 6 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(3): Show | 6 | HG01243.hp1 HG01346.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.2876+2508G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680314 | ||||||
| chr5:43680388
|
A | G | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2876+2582A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680388 | ||||||
| chr5:43680565
|
A | G | 67 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2876+2759A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680565 | ||||||
| chr5:43680589
|
G | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+2783G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680589 | ||||||
| chr5:43680820
|
A | G | 1 | a0001c0004t0007g0080 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2876+3014A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680820 | ||||||
| chr5:43680842
|
G | A | 17 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(14): Show | 17 | HG01109.hp1 HG01891.hp1 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.2876+3036G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680842 | ||||||
| chr5:43680871
|
C | T | 15 | a0001c0001t0005g0010a0001c0001t0005g0026a0001c0001t0005g0027others(12): Show | 15 | HG01074.hp2 HG01169.hp2 HG01361.hp2 others(12): Show |
intron_variant | MODIFIER | c.2876+3065C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680871 | ||||||
| chr5:43680875
|
C | T | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2876+3069C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680875 | ||||||
| chr5:43680878
|
C | T | 1 | a0001c0002t0001g0146 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2876+3072C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680878 | ||||||
| chr5:43680963
|
A | G | 31 | a0001c0002t0002g0163a0001c0002t0010g0184a0001c0002t0013g0181others(28): Show | 31 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.2876+3157A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680963 | ||||||
| chr5:43680968
|
C | G | 1 | a0001c0001t0015g0007 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2876+3162C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43680968 | ||||||
| chr5:43681077
|
G | T | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+3271G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681077 | ||||||
| chr5:43681176
|
C | T | 1 | a0001c0001t0016g0112 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2876+3370C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681176 | ||||||
| chr5:43681191
|
T | C | 67 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(64): Show | 67 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2876+3385T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681191 | ||||||
| chr5:43681214
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2876+3408C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681214 | ||||||
| chr5:43681259
|
C | CA | 16 | a0001c0001t0003g0022a0001c0001t0006g0109a0001c0001t0006g0115others(13): Show | 16 | HG01069.hp1 HG01070.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.2876+3474dupA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43681259 | |||||
| chr5:43681259
|
C | CAA | 12 | a0001c0001t0006g0079a0001c0001t0006g0111a0001c0001t0006g0113others(9): Show | 12 | HG01243.hp1 HG01346.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.2876+3473_2876+347 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43681259 | |||||
| chr5:43681259
|
CA | C | 29 | a0001c0001t0001g0030a0001c0001t0001g0060a0001c0001t0001g0061others(26): Show | 29 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.2876+3474delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43681259 | |||||
| chr5:43681294
|
T | G | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2876+3488T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681294 | ||||||
| chr5:43681606
|
G | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+3800G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681606 | ||||||
| chr5:43681680
|
G | A | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+3874G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681680 | ||||||
| chr5:43681779
|
A | G | 1 | a0001c0001t0001g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2876+3973A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43681779 | ||||||
| chr5:43682027
|
A | AT | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+4227dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682027 | |||||
| chr5:43682105
|
A | G | 6 | a0001c0001t0017g0037a0001c0002t0008g0168a0001c0002t0008g0169others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.2876+4299A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43682105 | ||||||
| chr5:43682208
|
C | CT | 6 | a0001c0001t0001g0070a0001c0001t0003g0034a0001c0001t0003g0078others(3): Show | 6 | HG02451.hp2 HG02602.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.2876+4424dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682208 | |||||
| chr5:43682208
|
C | CTTT | 17 | a0001c0002t0002g0163a0002c0003t0002g0087a0002c0003t0002g0088others(14): Show | 17 | HG00544.hp1 HG01069.hp1 HG01981.hp1 others(14): Show |
intron_variant | MODIFIER | c.2876+4422_2876+442 others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682208 | |||||
| chr5:43682208
|
CT | C | 30 | a0001c0001t0003g0039a0001c0001t0005g0066a0001c0001t0006g0109others(27): Show | 30 | HG01109.hp1 HG01169.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2876+4424delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682208 | |||||
| chr5:43682208
|
CTT | C | 13 | a0001c0001t0006g0115a0001c0001t0006g0116a0001c0002t0010g0184others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.2876+4423_2876+442 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682208 | |||||
| chr5:43682280
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2876+4474G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43682280 | ||||||
| chr5:43682369
|
CCTGA | C | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+4566_2876+456 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43682369 | |||||
| chr5:43683124
|
G | T | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2876+5318G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683124 | ||||||
| chr5:43683149
|
C | G | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2876+5343C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683149 | ||||||
| chr5:43683243
|
A | G | 1 | a0001c0001t0009g0035 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2876+5437A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683243 | ||||||
| chr5:43683381
|
C | G | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+5575C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683381 | ||||||
| chr5:43683678
|
G | T | 24 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0002g0090others(21): Show | 24 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.2876+5872G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683678 | ||||||
| chr5:43683823
|
A | G | 1 | a0001c0002t0001g0164 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2876+6017A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683823 | ||||||
| chr5:43683916
|
C | T | 2 | a0001c0001t0001g0012a0001c0001t0001g0013 | 2 | HG01891.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.2876+6110C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683916 | ||||||
| chr5:43683964
|
A | T | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2876+6158A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43683964 | ||||||
| chr5:43684006
|
G | A | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2876+6200G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684006 | ||||||
| chr5:43684184
|
C | A | 1 | a0001c0001t0003g0038 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2876+6378C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684184 | ||||||
| chr5:43684217
|
AT | A | 6 | a0001c0001t0006g0071a0001c0002t0010g0184a0001c0011t0004g0123others(3): Show | 6 | HG02451.hp2 HG02809.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.2876+6427delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43684217 | |||||
| chr5:43684217
|
ATT | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+6426_2876+642 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43684217 | |||||
| chr5:43684218
|
T | A | 1 | a0001c0001t0009g0035 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2876+6412T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684218 | ||||||
| chr5:43684380
|
T | C | 1 | a0001c0001t0001g0013 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2876+6574T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684380 | ||||||
| chr5:43684508
|
C | A | 1 | a0006c0008t0013g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2876+6702C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684508 | ||||||
| chr5:43684728
|
TA | T | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+6932delA | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43684728 | |||||
| chr5:43684816
|
A | G | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+7010A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684816 | ||||||
| chr5:43684975
|
A | G | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2876+7169A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684975 | ||||||
| chr5:43684979
|
A | G | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2876+7173A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43684979 | ||||||
| chr5:43685010
|
C | T | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2876+7204C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685010 | ||||||
| chr5:43685259
|
C | G | 6 | a0001c0001t0017g0037a0001c0002t0008g0168a0001c0002t0008g0169others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.2876+7453C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685259 | ||||||
| chr5:43685478
|
A | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2876+7672A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685478 | ||||||
| chr5:43685486
|
T | G | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+7680T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685486 | ||||||
| chr5:43685493
|
T | A | 38 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(35): Show | 38 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.2876+7687T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685493 | ||||||
| chr5:43685494
|
A | T | 7 | a0001c0002t0001g0149a0001c0002t0001g0166a0001c0002t0010g0184others(4): Show | 7 | HG02071.hp2 HG02523.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.2876+7688A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685494 | ||||||
| chr5:43685919
|
A | G | 1 | a0005c0016t0005g0044 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2876+8113A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685919 | ||||||
| chr5:43685974
|
T | G | 2 | a0001c0004t0004g0129a0001c0004t0004g0130 | 2 | HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2876+8168T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685974 | ||||||
| chr5:43685978
|
C | T | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+8172C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43685978 | ||||||
| chr5:43686031
|
T | C | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+8225T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686031 | ||||||
| chr5:43686093
|
T | G | 5 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(2): Show | 5 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+8287T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686093 | ||||||
| chr5:43686171
|
A | G | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+8365A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686171 | ||||||
| chr5:43686234
|
T | C | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2876+8428T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686234 | ||||||
| chr5:43686238
|
A | AT | 28 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138others(25): Show | 28 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.2876+8446dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43686238 | |||||
| chr5:43686521
|
CT | C | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2876+8719delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43686521 | |||||
| chr5:43686662
|
G | A | 1 | a0002c0003t0002g0104 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2876+8856G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686662 | ||||||
| chr5:43686746
|
A | G | 1 | a0001c0001t0001g0057 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2876+8940A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686746 | ||||||
| chr5:43686827
|
G | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+9021G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686827 | ||||||
| chr5:43686958
|
T | G | 2 | a0001c0001t0005g0026a0001c0001t0005g0055 | 2 | HG02615.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.2876+9152T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43686958 | ||||||
| chr5:43687157
|
G | A | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+9351G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687157 | ||||||
| chr5:43687372
|
T | C | 5 | a0001c0002t0010g0184a0001c0011t0004g0123a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2876+9566T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687372 | ||||||
| chr5:43687446
|
A | G | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2876+9640A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687446 | ||||||
| chr5:43687608
|
G | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2876+9802G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687608 | ||||||
| chr5:43687736
|
G | T | 1 | a0004c0007t0010g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2876+9930G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687736 | ||||||
| chr5:43687838
|
C | T | 31 | a0001c0002t0002g0163a0001c0002t0010g0184a0001c0002t0013g0181others(28): Show | 31 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.2876+10032C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43687838 | ||||||
| chr5:43688011
|
G | A | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2876+10205G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688011 | ||||||
| chr5:43688097
|
C | T | 63 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(60): Show | 63 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.2876+10291C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688097 | ||||||
| chr5:43688179
|
T | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2876+10373T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688179 | ||||||
| chr5:43688218
|
C | T | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2876+10412C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688218 | ||||||
| chr5:43688294
|
G | A | 6 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(3): Show | 6 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.2876+10488G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688294 | ||||||
| chr5:43688415
|
A | T | 1 | a0001c0002t0025g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2876+10609A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688415 | ||||||
| chr5:43688812
|
T | C | 7 | a0002c0003t0002g0090a0002c0003t0002g0091a0002c0003t0002g0103others(4): Show | 7 | HG01069.hp1 HG01070.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.2876+11006T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688812 | ||||||
| chr5:43688821
|
A | G | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2876+11015A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43688821 | ||||||
| chr5:43689074
|
T | A | 1 | a0001c0001t0001g0018 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2877-11045T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689074 | ||||||
| chr5:43689355
|
T | A | 1 | a0001c0001t0006g0109 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2877-10764T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689355 | ||||||
| chr5:43689494
|
C | T | 43 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(40): Show | 43 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.2877-10625C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689494 | ||||||
| chr5:43689554
|
C | T | 3 | a0001c0001t0015g0007a0001c0001t0015g0033a0001c0001t0028g0016 | 3 | HG01175.hp2 HG02280.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.2877-10565C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689554 | ||||||
| chr5:43689786
|
A | G | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2877-10333A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689786 | ||||||
| chr5:43689895
|
G | A | 1 | a0001c0005t0004g0135 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2877-10224G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43689895 | ||||||
| chr5:43690438
|
G | A | 1 | a0001c0011t0004g0123 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2877-9681G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43690438 | ||||||
| chr5:43690457
|
A | G | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2877-9662A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43690457 | ||||||
| chr5:43690687
|
C | A | 1 | a0001c0001t0001g0063 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2877-9432C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43690687 | ||||||
| chr5:43690862
|
A | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-9257A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43690862 | ||||||
| chr5:43691064
|
T | TGA | 6 | a0001c0004t0004g0119a0001c0004t0004g0120a0001c0004t0004g0128others(3): Show | 6 | HG02735.hp1 HG03130.hp2 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.2877-9049_2877-904 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691064 | |||||
| chr5:43691064
|
T | TGAGA | 2 | a0001c0004t0004g0122a0002c0003t0002g0091 | 2 | HG01981.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.2877-9051_2877-904 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691064 | |||||
| chr5:43691064
|
T | TGAGAGAG others(1): Show |
2 | a0002c0003t0002g0090a0002c0003t0002g0104 | 2 | HG01070.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2877-9048_2877-904 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691064 | |||||
| chr5:43691068
|
A | AGT | 2 | a0001c0001t0001g0083a0001c0004t0021g0131 | 2 | HG01891.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2877-9050_2877-904 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691068 | |||||
| chr5:43691070
|
A | AGAGAGAG others(5): Show |
6 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(3): Show | 6 | HG01243.hp1 HG01346.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.2877-9048_2877-904 others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGAGAGAG others(7): Show |
1 | a0001c0001t0006g0079 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2877-9048_2877-904 others(18): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGAGAGAG others(9): Show |
2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2877-9048_2877-904 others(20): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGAGAGAG others(1): Show |
3 | a0002c0003t0002g0103a0002c0003t0002g0108a0002c0015t0002g0086 | 3 | HG01069.hp1 HG03669.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.2877-9048_2877-904 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGAGAGAG others(3): Show |
1 | a0002c0003t0002g0105 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2877-9048_2877-904 others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGAGT | 5 | a0001c0001t0014g0137a0001c0001t0014g0138a0001c0004t0004g0117others(2): Show | 5 | HG02071.hp1 HG02109.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.2877-9048_2877-904 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGT | 32 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0048others(29): Show | 32 | HG01074.hp2 HG01361.hp2 HG01516.hp1 others(29): Show |
intron_variant | MODIFIER | c.2877-9006_2877-900 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGTGT | 16 | a0001c0001t0003g0034a0001c0001t0005g0026a0001c0001t0005g0055others(13): Show | 16 | HG01167.hp2 HG01169.hp2 HG02074.hp2 others(13): Show |
intron_variant | MODIFIER | c.2877-9008_2877-900 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | AGTGTGTG others(3): Show |
2 | a0001c0004t0007g0125a0001c0004t0018g0126 | 2 | HG02897.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2877-9014_2877-900 others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
A | T | 5 | a0001c0001t0001g0083a0001c0004t0007g0080a0001c0004t0007g0081others(2): Show | 5 | HG01891.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.2877-9049A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691070 | ||||||
| chr5:43691070
|
AGT | A | 27 | a0001c0001t0001g0008a0001c0001t0001g0051a0001c0001t0003g0067others(24): Show | 27 | HG00544.hp1 HG00741.hp2 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.2877-9006_2877-900 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691070
|
AGTGT | A | 4 | a0001c0001t0001g0012a0001c0001t0001g0052a0001c0001t0006g0139others(1): Show | 4 | HG01891.hp2 HG02886.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-9008_2877-900 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43691070 | |||||
| chr5:43691072
|
T | A | 5 | a0001c0001t0003g0039a0001c0002t0022g0151a0001c0004t0020g0019others(2): Show | 5 | HG01981.hp1 HG03834.hp2 NA18947.hp2 others(2): Show |
intron_variant | MODIFIER | c.2877-9047T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691072 | ||||||
| chr5:43691074
|
T | A | 3 | a0004c0007t0010g0003a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02809.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.2877-9045T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691074 | ||||||
| chr5:43691076
|
T | A | 5 | a0001c0001t0006g0139a0001c0002t0010g0184a0004c0007t0010g0003others(2): Show | 5 | HG02809.hp2 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2877-9043T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691076 | ||||||
| chr5:43691078
|
T | A | 1 | a0001c0002t0010g0184 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2877-9041T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691078 | ||||||
| chr5:43691114
|
T | TGTG | 2 | a0001c0004t0004g0127a0001c0011t0004g0123 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2877-9005_2877-900 others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691114 | ||||||
| chr5:43691115
|
T | G | 2 | a0001c0002t0008g0180a0003c0006t0005g0085 | 2 | HG01516.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.2877-9004T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691115 | ||||||
| chr5:43691161
|
G | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-8958G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691161 | ||||||
| chr5:43691273
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2877-8846G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691273 | ||||||
| chr5:43691461
|
A | T | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-8658A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691461 | ||||||
| chr5:43691753
|
A | G | 2 | a0001c0001t0003g0065a0001c0001t0003g0067 | 2 | HG01243.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.2877-8366A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43691753 | ||||||
| chr5:43692193
|
AT | A | 69 | a0001c0001t0006g0071a0001c0001t0006g0079a0001c0001t0006g0109others(66): Show | 69 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(66): Show |
intron_variant | MODIFIER | c.2877-7916delT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43692193 | |||||
| chr5:43692292
|
A | G | 2 | a0001c0004t0004g0129a0001c0004t0004g0130 | 2 | HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2877-7827A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692292 | ||||||
| chr5:43692387
|
G | A | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2877-7732G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692387 | ||||||
| chr5:43692496
|
G | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-7623G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692496 | ||||||
| chr5:43692640
|
C | T | 2 | a0001c0001t0014g0137a0001c0001t0014g0138 | 2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2877-7479C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692640 | ||||||
| chr5:43692641
|
G | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2877-7478G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692641 | ||||||
| chr5:43692749
|
T | C | 3 | a0001c0002t0010g0184a0004c0007t0010g0004a0008c0012t0010g0045 | 3 | HG02970.hp2 HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2877-7370T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43692749 | ||||||
| chr5:43693042
|
A | AT | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2877-7067dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43693042 | |||||
| chr5:43693045
|
T | TA | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-7074_2877-707 others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693045 | ||||||
| chr5:43693138
|
G | A | 1 | a0001c0001t0001g0014 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2877-6981G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693138 | ||||||
| chr5:43693324
|
G | T | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-6795G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693324 | ||||||
| chr5:43693402
|
T | A | 1 | a0001c0001t0006g0109 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2877-6717T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693402 | ||||||
| chr5:43693795
|
T | C | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2877-6324T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693795 | ||||||
| chr5:43693799
|
G | T | 1 | a0002c0003t0011g0099 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2877-6320G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693799 | ||||||
| chr5:43693914
|
A | G | 1 | a0001c0002t0001g0143 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2877-6205A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693914 | ||||||
| chr5:43693998
|
G | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-6121G>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43693998 | ||||||
| chr5:43694431
|
C | T | 1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2877-5688C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694431 | ||||||
| chr5:43694704
|
G | A | 2 | a0001c0001t0003g0041a0001c0002t0001g0170 | 2 | HG00597.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.2877-5415G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694704 | ||||||
| chr5:43694735
|
A | AGT | 2 | a0001c0001t0001g0031a0001c0001t0001g0084 | 2 | HG02922.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2877-5383_2877-538 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694735 | |||||
| chr5:43694738
|
T | G | 2 | a0001c0001t0001g0031a0001c0001t0001g0084 | 2 | HG02922.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2877-5381T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694738 | ||||||
| chr5:43694738
|
T | TG | 2 | a0001c0001t0001g0030a0001c0002t0001g0147 | 2 | NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2877-5381_2877-538 others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694738 | ||||||
| chr5:43694738
|
T | TGTG | 2 | a0001c0001t0005g0053a0001c0002t0001g0161 | 2 | HG01071.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2877-5381_2877-538 others(7): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694738 | ||||||
| chr5:43694738
|
T | TTG | 33 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0013others(30): Show | 33 | HG01361.hp1 HG01993.hp2 HG02109.hp1 others(30): Show |
intron_variant | MODIFIER | c.2877-5339_2877-533 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTG | 23 | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0001g0059others(20): Show | 24 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.2877-5341_2877-533 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTGTG | 10 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0005g0010others(7): Show | 10 | HG01109.hp1 HG01175.hp2 HG01361.hp2 others(7): Show |
intron_variant | MODIFIER | c.2877-5343_2877-533 others(10): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTGTGT others(1): Show |
12 | a0001c0001t0005g0026a0001c0001t0006g0139a0001c0002t0025g0140others(9): Show | 12 | HG02071.hp1 HG02165.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.2877-5345_2877-533 others(12): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTGTGT others(3): Show |
12 | a0001c0001t0006g0115a0001c0001t0006g0116a0001c0002t0002g0163others(9): Show | 12 | HG00544.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.2877-5347_2877-533 others(14): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTGTGT others(5): Show |
1 | a0002c0003t0012g0107 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2877-5349_2877-533 others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
T | TTGTGTGT others(7): Show |
3 | a0002c0003t0002g0087a0002c0003t0002g0088a0002c0003t0012g0100 | 3 | NA18943.hp1 NA18970.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.2877-5351_2877-533 others(18): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
TTG | T | 8 | a0001c0002t0001g0154a0001c0002t0001g0157a0001c0004t0004g0128others(5): Show | 8 | HG01167.hp2 HG02976.hp1 HG03486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2877-5339_2877-533 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
TTGTG | T | 4 | a0001c0001t0001g0049a0001c0001t0001g0069a0001c0001t0001g0070others(1): Show | 4 | HG02809.hp1 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-5341_2877-533 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694738
|
TTGTGTGT others(5): Show |
T | 6 | a0001c0001t0006g0109a0001c0001t0006g0111a0001c0001t0006g0113others(3): Show | 6 | HG01243.hp1 HG01346.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.2877-5349_2877-533 others(16): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43694738 | |||||
| chr5:43694859
|
G | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-5260G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694859 | ||||||
| chr5:43694961
|
T | A | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2877-5158T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43694961 | ||||||
| chr5:43695029
|
C | T | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2877-5090C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695029 | ||||||
| chr5:43695191
|
C | A | 180 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(177): Show | 181 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(178): Show |
intron_variant | MODIFIER | c.2877-4928C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695191 | ||||||
| chr5:43695309
|
T | C | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG06807.hp2 NA18522.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2877-4810T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695309 | ||||||
| chr5:43695339
|
C | A | 26 | a0001c0001t0006g0139a0001c0004t0004g0117a0001c0004t0004g0119others(23): Show | 26 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-4780C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695339 | ||||||
| chr5:43695525
|
G | T | 1 | a0001c0002t0008g0171 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2877-4594G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695525 | ||||||
| chr5:43695809
|
A | T | 1 | a0002c0003t0002g0102 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2877-4310A>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43695809 | ||||||
| chr5:43696185
|
T | C | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2877-3934T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696185 | ||||||
| chr5:43696233
|
A | G | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-3886A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696233 | ||||||
| chr5:43696455
|
G | T | 1 | a0001c0001t0001g0049 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2877-3664G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696455 | ||||||
| chr5:43696696
|
G | A | 1 | a0001c0004t0021g0131 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2877-3423G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696696 | ||||||
| chr5:43696753
|
T | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-3366T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696753 | ||||||
| chr5:43696946
|
G | A | 3 | a0002c0003t0002g0093a0002c0003t0002g0095a0002c0003t0011g0096 | 3 | HG02071.hp1 NA18941.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.2877-3173G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43696946 | ||||||
| chr5:43697229
|
T | C | 1 | a0001c0002t0001g0158 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2877-2890T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697229 | ||||||
| chr5:43697466
|
C | G | 1 | a0001c0004t0004g0128 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2877-2653C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697466 | ||||||
| chr5:43697530
|
T | C | 1 | a0001c0002t0001g0185 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2877-2589T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697530 | ||||||
| chr5:43697632
|
G | A | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2877-2487G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697632 | ||||||
| chr5:43697805
|
C | A | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-2314C>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697805 | ||||||
| chr5:43697842
|
C | G | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-2277C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697842 | ||||||
| chr5:43697884
|
T | C | 3 | a0001c0001t0005g0010a0001c0001t0024g0017a0001c0001t0027g0054 | 3 | HG01074.hp2 HG01361.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.2877-2235T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697884 | ||||||
| chr5:43697972
|
A | G | 7 | a0001c0005t0004g0132a0001c0005t0004g0133a0001c0005t0004g0134others(4): Show | 7 | HG01167.hp2 HG02572.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.2877-2147A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43697972 | ||||||
| chr5:43698061
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0002t0001g0156 | 3 | HG02723.hp2 HG03486.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2877-2058G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698061 | ||||||
| chr5:43698081
|
T | C | 1 | a0001c0002t0001g0154 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.2877-2038T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698081 | ||||||
| chr5:43698081
|
T | TAC | 14 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(11): Show | 14 | HG00544.hp2 HG01243.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.2877-2020_2877-201 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43698081 | |||||
| chr5:43698081
|
T | TACAC | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2877-2022_2877-201 others(8): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43698081 | |||||
| chr5:43698083
|
C | T | 3 | a0001c0001t0005g0026a0001c0001t0005g0055a0001c0004t0004g0122 | 3 | HG02615.hp1 HG02615.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.2877-2036C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698083 | ||||||
| chr5:43698101
|
T | C | 1 | a0001c0001t0006g0139 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2877-2018T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698101 | ||||||
| chr5:43698141
|
T | C | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-1978T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698141 | ||||||
| chr5:43698237
|
C | T | 1 | a0001c0004t0004g0129 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2877-1882C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698237 | ||||||
| chr5:43698391
|
T | C | 1 | a0002c0003t0002g0092 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2877-1728T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698391 | ||||||
| chr5:43698512
|
ATTATC | A | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2877-1602_2877-159 others(9): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43698512 | |||||
| chr5:43698761
|
A | G | 1 | a0001c0001t0001g0015 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2877-1358A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698761 | ||||||
| chr5:43698897
|
C | CAT | 23 | a0001c0001t0001g0063a0001c0001t0001g0072a0001c0001t0006g0079others(20): Show | 23 | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.2877-1205_2877-120 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43698897 | |||||
| chr5:43698897
|
CAT | C | 16 | a0001c0001t0005g0010a0001c0001t0005g0027a0001c0001t0005g0053others(13): Show | 16 | HG01074.hp2 HG01169.hp2 HG01361.hp2 others(13): Show |
intron_variant | MODIFIER | c.2877-1205_2877-120 others(6): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43698897 | |||||
| chr5:43698983
|
T | G | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-1136T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43698983 | ||||||
| chr5:43699191
|
C | G | 7 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(4): Show | 7 | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2877-928C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699191 | ||||||
| chr5:43699282
|
G | T | 6 | a0001c0001t0017g0037a0001c0002t0008g0168a0001c0002t0008g0169others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.2877-837G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699282 | ||||||
| chr5:43699353
|
C | CT | 110 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(107): Show | 111 | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.2877-748dupT | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43699353 | |||||
| chr5:43699353
|
C | CTT | 6 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(3): Show | 6 | HG01069.hp1 HG01070.hp1 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.2877-749_2877-748d others(4): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43699353 | |||||
| chr5:43699353
|
C | CTTT | 34 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(31): Show | 34 | HG00544.hp1 HG01167.hp1 HG01169.hp1 others(31): Show |
intron_variant | MODIFIER | c.2877-750_2877-748d others(5): Show |
NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | 43699353 | |||||
| chr5:43699442
|
C | G | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2877-677C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699442 | ||||||
| chr5:43699452
|
C | T | 2 | a0001c0001t0006g0115a0001c0001t0006g0116 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2877-667C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699452 | ||||||
| chr5:43699720
|
G | T | 1 | a0001c0004t0026g0187 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2877-399G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699720 | ||||||
| chr5:43699728
|
G | A | 26 | a0001c0002t0002g0163a0001c0002t0013g0181a0002c0003t0002g0087others(23): Show | 26 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.2877-391G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699728 | ||||||
| chr5:43699809
|
A | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2877-310A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 19/21 | chr5 | 43699809 | ||||||
| chr5:43700442
|
T | G | 7 | a0001c0004t0004g0127a0001c0004t0007g0080a0001c0004t0007g0081others(4): Show | 7 | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2995+205T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43700442 | ||||||
| chr5:43700493
|
T | A | 1 | a0001c0004t0007g0124 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2995+256T>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43700493 | ||||||
| chr5:43700794
|
C | G | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2995+557C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43700794 | ||||||
| chr5:43700828
|
C | G | 2 | a0001c0004t0004g0117a0001c0004t0004g0122 | 2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2995+591C>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43700828 | ||||||
| chr5:43701019
|
G | T | 24 | a0001c0004t0004g0117a0001c0004t0004g0119a0001c0004t0004g0120others(21): Show | 24 | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.2995+782G>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701019 | ||||||
| chr5:43701188
|
T | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2995+951T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701188 | ||||||
| chr5:43701194
|
G | A | 1 | a0001c0001t0006g0071 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2995+957G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701194 | ||||||
| chr5:43701284
|
T | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2995+1047T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701284 | ||||||
| chr5:43701494
|
T | C | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2996-1127T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701494 | ||||||
| chr5:43701719
|
C | T | 4 | a0001c0002t0010g0184a0004c0007t0010g0003a0004c0007t0010g0004others(1): Show | 4 | HG02809.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2996-902C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43701719 | ||||||
| chr5:43702465
|
T | G | 1 | a0001c0002t0001g0005 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2996-156T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43702465 | ||||||
| chr5:43702539
|
A | C | 1 | a0001c0001t0003g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2996-82A>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 20/21 | chr5 | 43702539 | ||||||
| chr5:43702782
|
T | G | 1 | a0001c0001t0001g0072 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3111+46T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43702782 | ||||||
| chr5:43702785
|
A | G | 30 | a0001c0002t0002g0163a0001c0002t0010g0184a0001c0002t0013g0181others(27): Show | 30 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.3111+49A>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43702785 | ||||||
| chr5:43702991
|
G | A | 3 | a0001c0001t0006g0139a0001c0001t0014g0137a0001c0001t0014g0138 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3111+255G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43702991 | ||||||
| chr5:43703379
|
G | A | 1 | a0001c0001t0003g0073 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3111+643G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703379 | ||||||
| chr5:43703512
|
T | C | 9 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.3112-743T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703512 | ||||||
| chr5:43703779
|
G | A | 1 | a0001c0002t0008g0169 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.3112-476G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703779 | ||||||
| chr5:43703782
|
T | G | 1 | a0002c0003t0002g0093 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.3112-473T>G | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703782 | ||||||
| chr5:43703805
|
T | C | 2 | a0001c0001t0006g0071a0001c0002t0025g0140 | 2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3112-450T>C | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703805 | ||||||
| chr5:43703970
|
G | A | 42 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(39): Show | 42 | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3112-285G>A | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43703970 | ||||||
| chr5:43704129
|
C | T | 12 | a0001c0001t0006g0079a0001c0001t0006g0109a0001c0001t0006g0111others(9): Show | 12 | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.3112-126C>T | NNT | ENSG00000112992.18 | transcript | ENST00000344920.9 | protein_coding | 21/21 | chr5 | 43704129 |