| geneid | 26040 |
|---|---|
| ensemblid | ENSG00000152217.20 |
| hgncid | 15573 |
| symbol | SETBP1 |
| name | SET binding protein 1 |
| refseq_nuc | NM_015559.3 |
| refseq_prot | NP_056374.2 |
| ensembl_nuc | ENST00000649279.2 |
| ensembl_prot | ENSP00000497406.1 |
| mane_status | MANE Select |
| chr | chr18 |
| start | 44680888 |
| end | 45068510 |
| strand | + |
| ver | v1.2 |
| region | chr18:44680888-45068510 |
| region5000 | chr18:44675888-45073510 |
| regionname0 | SETBP1_chr18_44680888_45068510 |
| regionname5000 | SETBP1_chr18_44675888_45073510 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1596 | 83 | 43 | 15 | 14 | 4 | 5 | 7 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002 | 0/0 | 1596 | 18 | 11 | 5 | 1 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003 | 0/0 | 1596 | 15 | 1 | 9 | 4 | 0 | 1 | 2 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004 | 0/0 | 1596 | 11 | 1 | 1 | 9 | 0 | 0 | 6 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0005 | 0/0 | 1590 | 4 | 2 | 0 | 2 | 0 | 0 | 2 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0006 | 0/0 | 1590 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0007 | 0/0 | 1590 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0008 | 0/0 | 1596 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0009 | 0/0 | 1596 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0010 | 0/0 | 1596 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0011 | 0/0 | 1596 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0012 | 0/0 | 1596 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 4791 | 70 | 38 | 11 | 13 | 4 | 3 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0002 | 0/0 | 4791 | 18 | 11 | 5 | 1 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0003 | 0/0 | 4791 | 15 | 1 | 9 | 4 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0004 | 0/0 | 4791 | 10 | 1 | 1 | 8 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0005 | 1/0 | 4791 | 7 | 1 | 3 | 0 | 0 | 2 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0006 | 0/0 | 4792 | 4 | 2 | 0 | 2 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0007 | 0/0 | 4792 | 2 | 0 | 1 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0008 | 0/0 | 4792 | 2 | 0 | 2 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0009 | 0/0 | 4791 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0010 | 0/0 | 4791 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0011 | 0/0 | 4791 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0012 | 0/0 | 4791 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0013 | 0/0 | 4791 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0014 | 0/0 | 4791 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0015 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0016 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0017 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| c0018 | 0/0 | 4791 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 5119 | 74 | 29 | 17 | 21 | 3 | 3 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0002 | 0/1 | 5118 | 23 | 5 | 9 | 4 | 1 | 3 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0003 | 0/0 | 5117 | 7 | 6 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0004 | 0/0 | 5120 | 5 | 3 | 0 | 1 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0005 | 0/0 | 5118 | 4 | 4 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0006 | 0/0 | 5119 | 3 | 0 | 3 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0007 | 0/0 | 5119 | 3 | 3 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0008 | 0/0 | 5119 | 2 | 1 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0009 | 0/0 | 5119 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0010 | 0/0 | 5118 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0011 | 0/0 | 5119 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0012 | 0/0 | 5119 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0013 | 0/0 | 5119 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0014 | 0/0 | 5118 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0015 | 0/0 | 5119 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0016 | 0/0 | 5119 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0017 | 0/0 | 5119 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0018 | 0/0 | 5119 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0019 | 0/0 | 5118 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0020 | 0/0 | 5119 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0021 | 0/0 | 5119 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0022 | 0/0 | 5119 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0023 | 0/0 | 5119 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0024 | 0/0 | 5119 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| t0025 | 0/0 | 5140 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0038 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0066 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 4791 | 70 | 38 | 11 | 13 | 4 | 3 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0005 | 1/0 | 4791 | 7 | 1 | 3 | 0 | 0 | 2 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0009 | 0/0 | 4791 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0010 | 0/0 | 4791 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0012 | 0/0 | 4791 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0016 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002 | 0/0 | 4791 | 18 | 11 | 5 | 1 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003 | 0/0 | 4791 | 15 | 1 | 9 | 4 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0004 | 0/0 | 4791 | 10 | 1 | 1 | 8 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0015 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0005c0006 | 0/0 | 4792 | 4 | 2 | 0 | 2 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0006c0007 | 0/0 | 4792 | 2 | 0 | 1 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0007c0008 | 0/0 | 4792 | 2 | 0 | 2 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0008c0011 | 0/0 | 4791 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0009c0018 | 0/0 | 4791 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0010c0017 | 0/0 | 4791 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0011c0013 | 0/0 | 4791 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0012c0014 | 0/0 | 4791 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 9909 | 41 | 20 | 7 | 9 | 3 | 2 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0002 | 0/1 | 9908 | 10 | 3 | 1 | 3 | 1 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0003 | 0/0 | 9907 | 5 | 5 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0004 | 0/0 | 9910 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0005 | 0/0 | 9908 | 3 | 3 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0006 | 0/0 | 9909 | 2 | 0 | 2 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0009 | 0/0 | 9909 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0010 | 0/0 | 9908 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0012 | 0/0 | 9909 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0015 | 0/0 | 9909 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0024 | 0/0 | 9909 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0001t0025 | 0/0 | 9930 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0005t0001 | 1/0 | 9909 | 4 | 1 | 1 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0005t0002 | 0/0 | 9908 | 2 | 0 | 2 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0005t0020 | 0/0 | 9909 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0009t0002 | 0/0 | 9908 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0010t0007 | 0/0 | 9909 | 2 | 2 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0012t0003 | 0/0 | 9907 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0001c0016t0001 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0001 | 0/0 | 9909 | 10 | 7 | 2 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0002 | 0/0 | 9908 | 3 | 0 | 2 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0004 | 0/0 | 9910 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0005 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0006 | 0/0 | 9909 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0014 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0002c0002t0019 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0001 | 0/0 | 9909 | 6 | 0 | 6 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0002 | 0/0 | 9908 | 2 | 0 | 1 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0008 | 0/0 | 9909 | 2 | 1 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0011 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0013 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0016 | 0/0 | 9909 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0017 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0003c0003t0018 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0004t0001 | 0/0 | 9909 | 8 | 0 | 1 | 7 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0004t0002 | 0/0 | 9908 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0004t0007 | 0/0 | 9909 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0004c0015t0004 | 0/0 | 9910 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0005c0006t0001 | 0/0 | 9910 | 2 | 0 | 0 | 2 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0005c0006t0003 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0005c0006t0022 | 0/0 | 9910 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0006c0007t0002 | 0/0 | 9909 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0006c0007t0023 | 0/0 | 9910 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0007c0008t0002 | 0/0 | 9909 | 2 | 0 | 2 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0008c0011t0004 | 0/0 | 9910 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0009c0018t0004 | 0/0 | 9910 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0010c0017t0001 | 0/0 | 9909 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0011c0013t0021 | 0/0 | 9909 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| a0012c0014t0001 | 0/0 | 9909 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | copy fasta | chr18 | 44675888 | 45073510 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0066 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0003g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0003g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0004g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0005g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0005g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0005g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0006g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0006g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0009g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0009g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0010g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0010g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0012g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0015g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0024g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0001t0025g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0001g0038 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0005t0020g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0009t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0009t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0010t0007g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0010t0007g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0012t0003g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0001c0016t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0002g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0004g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0005g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0006g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0014g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0002c0002t0019g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0002g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0008g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0008g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0011g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0013g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0016g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0017g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0003c0003t0018g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0004t0007g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0004c0015t0004g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0005c0006t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0005c0006t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0005c0006t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0005c0006t0022g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0006c0007t0002g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0006c0007t0023g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0007c0008t0002g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0007c0008t0002g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0008c0011t0004g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0009c0018t0004g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0010c0017t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0011c0013t0021g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| a0012c0014t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0021 | EUR | GBR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0039 | EUR | GBR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0018 | EUR | GBR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0017 | EUR | GBR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | CHS | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00438 | hp2 | a0004 | c0004 | t0001 | g0019 | EAS | CHS | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00639 | hp1 | a0001 | c0001 | t0015 | g0015 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00639 | hp2 | a0003 | c0003 | t0001 | g0109 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00735 | hp1 | a0003 | c0003 | t0008 | g0009 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00741 | hp1 | a0001 | c0001 | t0006 | g0056 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0020 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01070 | hp1 | a0002 | c0002 | t0002 | g0135 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01070 | hp2 | a0003 | c0003 | t0001 | g0082 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01071 | hp1 | a0004 | c0004 | t0001 | g0024 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01071 | hp2 | a0003 | c0003 | t0001 | g0083 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01074 | hp1 | a0002 | c0002 | t0001 | g0136 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0118 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01167 | hp1 | a0003 | c0003 | t0016 | g0110 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01175 | hp2 | a0003 | c0003 | t0001 | g0063 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01192 | hp2 | a0002 | c0002 | t0006 | g0048 | AMR | PUR | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01255 | hp1 | a0001 | c0005 | t0002 | g0031 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01255 | hp2 | a0011 | c0013 | t0021 | g0090 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01258 | hp1 | a0003 | c0003 | t0002 | g0014 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01261 | hp1 | a0003 | c0003 | t0001 | g0139 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01261 | hp2 | a0001 | c0001 | t0006 | g0092 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01496 | hp1 | a0001 | c0012 | t0003 | g0069 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01496 | hp2 | a0006 | c0007 | t0002 | g0114 | AMR | CLM | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01934 | hp2 | a0002 | c0002 | t0002 | g0043 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0040 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01978 | hp2 | a0007 | c0008 | t0002 | g0086 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01981 | hp1 | a0001 | c0005 | t0001 | g0111 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG01981 | hp2 | a0001 | c0005 | t0002 | g0115 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02004 | hp1 | a0003 | c0003 | t0001 | g0047 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02004 | hp2 | a0007 | c0008 | t0002 | g0080 | AMR | PEL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02040 | hp1 | a0004 | c0004 | t0001 | g0004 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02055 | hp1 | a0001 | c0010 | t0007 | g0113 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02055 | hp2 | a0002 | c0002 | t0001 | g0023 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02080 | hp1 | a0010 | c0017 | t0001 | g0041 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02080 | hp2 | a0003 | c0003 | t0011 | g0064 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02132 | hp1 | a0004 | c0004 | t0001 | g0053 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0012 | EAS | CDX | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | CDX | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02523 | hp1 | a0003 | c0003 | t0017 | g0052 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | KHV | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02572 | hp1 | a0001 | c0009 | t0002 | g0133 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02602 | hp1 | a0003 | c0003 | t0002 | g0116 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0125 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02615 | hp1 | a0003 | c0003 | t0008 | g0051 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0105 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02622 | hp1 | a0002 | c0002 | t0001 | g0073 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0140 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02630 | hp1 | a0001 | c0001 | t0005 | g0079 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0137 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02647 | hp1 | a0012 | c0014 | t0001 | g0104 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02647 | hp2 | a0001 | c0001 | t0004 | g0006 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02717 | hp1 | a0002 | c0002 | t0001 | g0081 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02717 | hp2 | a0001 | c0001 | t0005 | g0138 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0127 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0061 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02809 | hp1 | a0005 | c0006 | t0022 | g0089 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02886 | hp1 | a0001 | c0001 | t0003 | g0100 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0132 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02895 | hp2 | a0001 | c0001 | t0003 | g0059 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02896 | hp1 | a0001 | c0001 | t0005 | g0087 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02896 | hp2 | a0004 | c0004 | t0007 | g0070 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0037 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0025 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02976 | hp1 | a0001 | c0001 | t0012 | g0033 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02976 | hp2 | a0001 | c0001 | t0003 | g0057 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | GWD | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03139 | hp1 | a0001 | c0001 | t0010 | g0131 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03139 | hp2 | a0001 | c0010 | t0007 | g0058 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03225 | hp1 | a0001 | c0001 | t0009 | g0077 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0129 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03453 | hp2 | a0002 | c0002 | t0014 | g0130 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03486 | hp1 | a0008 | c0011 | t0004 | g0124 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03516 | hp2 | a0005 | c0006 | t0003 | g0022 | AFR | ESN | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03579 | hp1 | a0001 | c0009 | t0002 | g0106 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03579 | hp2 | a0001 | c0001 | t0009 | g0027 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03654 | hp2 | a0009 | c0018 | t0004 | g0050 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03710 | hp1 | a0002 | c0002 | t0002 | g0045 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0065 | SAS | PJL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG04199 | hp1 | a0001 | c0005 | t0020 | g0072 | SAS | STU | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG04199 | hp2 | a0001 | c0005 | t0001 | g0112 | SAS | STU | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18906 | hp1 | a0002 | c0002 | t0001 | g0074 | AFR | YRI | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | YRI | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18953 | hp1 | a0001 | c0001 | t0025 | g0042 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18953 | hp2 | a0004 | c0004 | t0002 | g0078 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18963 | hp1 | a0004 | c0004 | t0001 | g0085 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18963 | hp2 | a0004 | c0004 | t0001 | g0003 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18964 | hp2 | a0004 | c0015 | t0004 | g0036 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18989 | hp1 | a0004 | c0004 | t0001 | g0119 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19000 | hp1 | a0006 | c0007 | t0023 | g0062 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19000 | hp2 | a0005 | c0006 | t0001 | g0075 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19010 | hp1 | a0003 | c0003 | t0018 | g0011 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19010 | hp2 | a0001 | c0016 | t0001 | g0101 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19030 | hp1 | a0001 | c0001 | t0024 | g0108 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0123 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19066 | hp1 | a0003 | c0003 | t0013 | g0103 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19066 | hp2 | a0004 | c0004 | t0001 | g0054 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA19083 | hp2 | a0005 | c0006 | t0001 | g0007 | EAS | JPT | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02109 | hp1 | a0001 | c0005 | t0001 | g0084 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0001 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG02486 | hp2 | a0001 | c0001 | t0010 | g0035 | AFR | ACB | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03471 | hp1 | a0002 | c0002 | t0004 | g0095 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0026 | AFR | MSL | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG06807 | hp1 | a0002 | c0002 | t0001 | g0121 | AFR | USA | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0032 | AFR | USA | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA21309 | hp1 | a0002 | c0002 | t0019 | g0128 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| NA21309 | hp2 | a0002 | c0002 | t0005 | g0107 | AFR | LWK | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0066 | REF | REF | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| homoSapiens_grch38 | hp1 | a0001 | c0005 | t0001 | g0038 | REF | REF | SETBP1_chr18_44675888_45073510 | SETBP1 | chr18 | 44675888 | 45073510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:44701507
|
G | A | 1 | a0008 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.161G>A | p.Arg54His | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/6 | 467/9909 | 161/4791 | 54/1596 | chr18 | 44701507 | ||
| chr18:44950031
|
G | C | 1 | a0002 | 18 | HG00741.hp2 HG01070.hp1 HG01074.hp1 others(15): Show |
missense_variant | MODERATE | c.691G>C | p.Val231Leu | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 997/9909 | 691/4791 | 231/1596 | chr18 | 44950031 | ||
| chr18:44950377
|
C | T | 1 | a0009 | 1 | HG03654.hp2 | missense_variant | MODERATE | c.1037C>T | p.Thr346Ile | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 1343/9909 | 1037/4791 | 346/1596 | chr18 | 44950377 | ||
| chr18:44951219
|
C | T | 1 | a0010 | 1 | HG02080.hp1 | missense_variant | MODERATE | c.1879C>T | p.Arg627Cys | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 2185/9909 | 1879/4791 | 627/1596 | chr18 | 44951219 | ||
| chr18:44952641
|
G | A | 4 | a0004a0006a0009others(1): Show | 15 | HG00438.hp2 HG01071.hp1 HG01255.hp2 others(12): Show |
missense_variant | MODERATE | c.3301G>A | p.Val1101Ile | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 3607/9909 | 3301/4791 | 1101/1596 | chr18 | 44952641 | ||
| chr18:44952728
|
C | A | 2 | a0003a0007 | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
missense_variant | MODERATE | c.3388C>A | p.Pro1130Thr | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 3694/9909 | 3388/4791 | 1130/1596 | chr18 | 44952728 | ||
| chr18:45038588
|
C | G | 1 | a0012 | 1 | HG02647.hp1 | missense_variant | MODERATE | c.4104C>G | p.Asp1368Glu | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/6 | 4410/9909 | 4104/4791 | 1368/1596 | chr18 | 45038588 | ||
| chr18:45063305
|
G | T | 1 | a0011 | 1 | HG01255.hp2 | missense_variant | MODERATE | c.4398G>T | p.Glu1466Asp | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 4704/9909 | 4398/4791 | 1466/1596 | chr18 | 45063305 | ||
| chr18:45063530
|
A | AC | 3 | a0005a0006a0007 | 8 | HG01496.hp2 HG01978.hp2 HG02004.hp2 others(5): Show |
frameshift_variant | HIGH | c.4628dupC | p.Leu1544fs | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 4935/9909 | 4629/4791 | 1543/1596 | INFO_REALIGN_3_PRIME | chr18 | 45063530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:44950498
|
C | T | 1 | a0001c0010 | 2 | HG02055.hp1 HG03139.hp2 |
synonymous_variant | LOW | c.1158C>T | p.Asn386Asn | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 1464/9909 | 1158/4791 | 386/1596 | chr18 | 44950498 | ||
| chr18:44950588
|
T | C | 1 | a0001c0012 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.1248T>C | p.His416His | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 1554/9909 | 1248/4791 | 416/1596 | chr18 | 44950588 | ||
| chr18:44951272
|
C | T | 1 | a0001c0016 | 1 | NA19010.hp2 | synonymous_variant | LOW | c.1932C>T | p.Ser644Ser | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 2238/9909 | 1932/4791 | 644/1596 | chr18 | 44951272 | ||
| chr18:44951947
|
C | T | 1 | a0004c0015 | 1 | NA18964.hp2 | synonymous_variant | LOW | c.2607C>T | p.Ser869Ser | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 2913/9909 | 2607/4791 | 869/1596 | chr18 | 44951947 | ||
| chr18:44953165
|
A | G | 17 | a0001c0001a0001c0009a0001c0010others(14): Show | 133 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
synonymous_variant | LOW | c.3825A>G | p.Ser1275Ser | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/6 | 4131/9909 | 3825/4791 | 1275/1596 | chr18 | 44953165 | ||
| chr18:45038615
|
G | A | 1 | a0001c0009 | 2 | HG02572.hp1 HG03579.hp1 |
synonymous_variant | LOW | c.4131G>A | p.Val1377Val | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/6 | 4437/9909 | 4131/4791 | 1377/1596 | chr18 | 45038615 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:45063770
|
G | GCGGAATC others(14): Show |
1 | a0001c0001t0025 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*74_*94dupGGAATCCC others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 95 | INFO_REALIGN_3_PRIME | chr18 | 45063770 | ||||
| chr18:45063934
|
G | T | 1 | a0001c0001t0024 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*236G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 236 | chr18 | 45063934 | |||||
| chr18:45064188
|
G | A | 1 | a0003c0003t0011 | 1 | HG02080.hp2 | 3_prime_UTR_variant | MODIFIER | c.*490G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 490 | chr18 | 45064188 | |||||
| chr18:45064511
|
C | G | 5 | a0001c0001t0009a0001c0001t0010a0001c0001t0024others(2): Show | 8 | HG02055.hp1 HG02486.hp2 HG02896.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*813C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 813 | chr18 | 45064511 | |||||
| chr18:45064534
|
A | G | 1 | a0006c0007t0023 | 1 | NA19000.hp1 | 3_prime_UTR_variant | MODIFIER | c.*836A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 836 | chr18 | 45064534 | |||||
| chr18:45064808
|
C | CA | 15 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(12): Show | 21 | HG00735.hp1 HG00741.hp1 HG01192.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1127dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 1128 | INFO_REALIGN_3_PRIME | chr18 | 45064808 | ||||
| chr18:45065515
|
A | G | 1 | a0005c0006t0022 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1817A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 1817 | chr18 | 45065515 | |||||
| chr18:45065957
|
A | T | 1 | a0011c0013t0021 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2259A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2259 | chr18 | 45065957 | |||||
| chr18:45066560
|
G | A | 1 | a0003c0003t0013 | 1 | NA19066.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2862G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2862 | chr18 | 45066560 | |||||
| chr18:45066582
|
C | T | 2 | a0001c0005t0020a0002c0002t0019 | 2 | HG04199.hp1 NA21309.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2884C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2884 | chr18 | 45066582 | |||||
| chr18:45066599
|
A | C | 6 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(3): Show | 12 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*2901A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2901 | chr18 | 45066599 | |||||
| chr18:45066659
|
TG | T | 8 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(5): Show | 14 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*2966delG | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2966 | INFO_REALIGN_3_PRIME | chr18 | 45066659 | ||||
| chr18:45066669
|
AT | A | 16 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(13): Show | 36 | HG00099.hp2 HG00735.hp1 HG00741.hp1 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*2987delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 2987 | INFO_REALIGN_3_PRIME | chr18 | 45066669 | ||||
| chr18:45066877
|
G | A | 1 | a0001c0001t0015 | 1 | HG00639.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3179G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3179 | chr18 | 45066877 | |||||
| chr18:45066970
|
G | A | 1 | a0002c0002t0014 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3272G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3272 | chr18 | 45066970 | |||||
| chr18:45067042
|
G | A | 1 | a0003c0003t0016 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3344G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3344 | chr18 | 45067042 | |||||
| chr18:45067043
|
C | A | 1 | a0001c0001t0009 | 2 | HG03225.hp1 HG03579.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3345C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3345 | chr18 | 45067043 | |||||
| chr18:45067374
|
C | T | 1 | a0003c0003t0008 | 2 | HG00735.hp1 HG02615.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3676C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3676 | chr18 | 45067374 | |||||
| chr18:45067534
|
G | A | 1 | a0003c0003t0017 | 1 | HG02523.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3836G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 3836 | chr18 | 45067534 | |||||
| chr18:45067935
|
C | A | 1 | a0003c0003t0018 | 1 | NA19010.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4237C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 4237 | chr18 | 45067935 | |||||
| chr18:45068440
|
TA | T | 5 | a0001c0001t0003a0001c0001t0005a0001c0012t0003others(2): Show | 11 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*4753delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 6/6 | 4753 | INFO_REALIGN_3_PRIME | chr18 | 45068440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:44681566
|
C | A | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-173+545C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44681566 | ||||||
| chr18:44681567
|
C | G | 15 | a0001c0001t0001g0126a0001c0001t0001g0132a0001c0001t0001g0134others(12): Show | 15 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.-173+546C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44681567 | ||||||
| chr18:44682066
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-173+1045T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44682066 | ||||||
| chr18:44682358
|
G | T | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-173+1337G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44682358 | ||||||
| chr18:44682487
|
T | A | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.-173+1466T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44682487 | ||||||
| chr18:44682619
|
G | T | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-173+1598G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44682619 | ||||||
| chr18:44682904
|
G | A | 30 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(27): Show | 30 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(27): Show |
intron_variant | MODIFIER | c.-173+1883G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44682904 | ||||||
| chr18:44683206
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-173+2185C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44683206 | ||||||
| chr18:44684192
|
C | A | 1 | a0001c0005t0002g0031 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-173+3171C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44684192 | ||||||
| chr18:44684405
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-173+3384C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44684405 | ||||||
| chr18:44684585
|
G | GT | 22 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(19): Show | 22 | HG00639.hp2 HG01070.hp1 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.-173+3580dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | 44684585 | |||||
| chr18:44684585
|
GT | G | 6 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(3): Show | 6 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.-173+3580delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | 44684585 | |||||
| chr18:44684607
|
T | C | 2 | a0001c0001t0001g0032a0002c0002t0001g0123 | 2 | HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-173+3586T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44684607 | ||||||
| chr18:44685056
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-173+4035A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685056 | ||||||
| chr18:44685407
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-173+4386G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685407 | ||||||
| chr18:44685535
|
A | G | 3 | a0001c0001t0001g0105a0001c0009t0002g0106a0002c0002t0005g0107 | 3 | HG02615.hp2 HG03579.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-173+4514A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685535 | ||||||
| chr18:44685608
|
T | C | 2 | a0002c0002t0001g0136a0002c0002t0002g0135 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.-173+4587T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685608 | ||||||
| chr18:44685838
|
A | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-173+4817A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685838 | ||||||
| chr18:44685974
|
A | C | 51 | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0076others(48): Show | 51 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(48): Show |
intron_variant | MODIFIER | c.-173+4953A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44685974 | ||||||
| chr18:44686129
|
C | T | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-173+5108C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44686129 | ||||||
| chr18:44686409
|
C | T | 3 | a0001c0001t0001g0122a0001c0001t0024g0108a0012c0014t0001g0104 | 3 | HG02647.hp1 HG03195.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-173+5388C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44686409 | ||||||
| chr18:44686799
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-173+5778G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44686799 | ||||||
| chr18:44686951
|
A | T | 8 | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0002g0127others(5): Show | 8 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.-173+5930A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44686951 | ||||||
| chr18:44687264
|
G | T | 4 | a0001c0001t0001g0030a0001c0001t0002g0026a0001c0001t0009g0027others(1): Show | 4 | HG02809.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-173+6243G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687264 | ||||||
| chr18:44687362
|
G | A | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.-173+6341G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687362 | ||||||
| chr18:44687432
|
G | C | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-173+6411G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687432 | ||||||
| chr18:44687474
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-173+6453G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687474 | ||||||
| chr18:44687675
|
C | G | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.-173+6654C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687675 | ||||||
| chr18:44687959
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.-173+6938C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44687959 | ||||||
| chr18:44688248
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.-173+7227A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44688248 | ||||||
| chr18:44688723
|
G | A | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.-173+7702G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44688723 | ||||||
| chr18:44688959
|
C | G | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-173+7938C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44688959 | ||||||
| chr18:44689399
|
C | A | 1 | a0004c0004t0007g0070 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-173+8378C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44689399 | ||||||
| chr18:44689819
|
G | A | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-173+8798G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44689819 | ||||||
| chr18:44689862
|
G | C | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-173+8841G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44689862 | ||||||
| chr18:44690000
|
C | T | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-173+8979C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44690000 | ||||||
| chr18:44690058
|
A | C | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-173+9037A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44690058 | ||||||
| chr18:44690225
|
A | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.-173+9204A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44690225 | ||||||
| chr18:44690412
|
G | T | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.-173+9391G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44690412 | ||||||
| chr18:44691285
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-172-9890T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44691285 | ||||||
| chr18:44692325
|
CCCCATTT others(15): Show |
C | 1 | a0001c0001t0001g0030 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-172-8849_-172-882 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44692325 | ||||||
| chr18:44692346
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-172-8829G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44692346 | ||||||
| chr18:44692516
|
A | C | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-172-8659A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44692516 | ||||||
| chr18:44692669
|
G | A | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-172-8506G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44692669 | ||||||
| chr18:44692958
|
T | A | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-8217T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44692958 | ||||||
| chr18:44693036
|
A | G | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-172-8139A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44693036 | ||||||
| chr18:44693596
|
C | T | 4 | a0001c0001t0005g0138a0002c0002t0001g0136a0002c0002t0002g0135others(1): Show | 4 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.-172-7579C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44693596 | ||||||
| chr18:44693690
|
T | C | 2 | a0002c0002t0001g0073a0002c0002t0001g0074 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-172-7485T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44693690 | ||||||
| chr18:44693714
|
T | C | 2 | a0002c0002t0001g0073a0002c0002t0001g0074 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-172-7461T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44693714 | ||||||
| chr18:44693814
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-172-7361A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44693814 | ||||||
| chr18:44694072
|
G | A | 1 | a0004c0015t0004g0036 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-172-7103G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694072 | ||||||
| chr18:44694421
|
A | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-172-6754A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694421 | ||||||
| chr18:44694448
|
G | A | 4 | a0001c0001t0001g0040a0001c0001t0001g0065a0001c0001t0002g0039others(1): Show | 4 | HG00099.hp2 HG01978.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.-172-6727G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694448 | ||||||
| chr18:44694517
|
A | G | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-6658A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694517 | ||||||
| chr18:44694651
|
G | A | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-6524G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694651 | ||||||
| chr18:44694703
|
AG | A | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-6470delG | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | 44694703 | |||||
| chr18:44694783
|
CT | C | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-6391delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694783 | ||||||
| chr18:44694797
|
G | A | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.-172-6378G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694797 | ||||||
| chr18:44694902
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-172-6273G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44694902 | ||||||
| chr18:44695880
|
A | G | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-5295A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44695880 | ||||||
| chr18:44696284
|
A | G | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-4891A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44696284 | ||||||
| chr18:44696396
|
G | C | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.-172-4779G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44696396 | ||||||
| chr18:44696648
|
T | C | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-172-4527T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44696648 | ||||||
| chr18:44696734
|
T | C | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.-172-4441T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44696734 | ||||||
| chr18:44696860
|
A | G | 5 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0010g0035others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-172-4315A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44696860 | ||||||
| chr18:44697023
|
A | G | 126 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(123): Show | 126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-172-4152A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44697023 | ||||||
| chr18:44697224
|
C | T | 8 | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0002g0127others(5): Show | 8 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.-172-3951C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44697224 | ||||||
| chr18:44697663
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.-172-3512G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44697663 | ||||||
| chr18:44697665
|
T | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-172-3510T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44697665 | ||||||
| chr18:44697939
|
G | C | 7 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0001g0140others(4): Show | 7 | HG02572.hp1 HG02622.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.-172-3236G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44697939 | ||||||
| chr18:44698142
|
C | G | 7 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0001g0140others(4): Show | 7 | HG02572.hp1 HG02622.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.-172-3033C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44698142 | ||||||
| chr18:44698725
|
A | G | 3 | a0001c0001t0001g0029a0001c0001t0002g0125a0004c0004t0001g0024 | 3 | HG01071.hp1 HG02486.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.-172-2450A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44698725 | ||||||
| chr18:44699036
|
A | G | 1 | a0001c0001t0002g0102 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.-172-2139A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44699036 | ||||||
| chr18:44699149
|
T | C | 1 | a0001c0001t0004g0006 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-172-2026T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44699149 | ||||||
| chr18:44699669
|
G | T | 8 | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0002g0127others(5): Show | 8 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.-172-1506G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44699669 | ||||||
| chr18:44699786
|
C | T | 1 | a0001c0016t0001g0101 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-172-1389C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44699786 | ||||||
| chr18:44700128
|
G | A | 133 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(130): Show | 133 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.-172-1047G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700128 | ||||||
| chr18:44700165
|
T | G | 8 | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0002g0127others(5): Show | 8 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.-172-1010T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700165 | ||||||
| chr18:44700295
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-172-880G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700295 | ||||||
| chr18:44700341
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-172-834T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700341 | ||||||
| chr18:44700425
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0004g0006a0002c0002t0001g0023others(1): Show | 4 | HG02055.hp2 HG02572.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.-172-750C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700425 | ||||||
| chr18:44700558
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0028a0005c0006t0001g0007 | 3 | HG02132.hp2 NA18981.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.-172-617T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700558 | ||||||
| chr18:44700929
|
T | C | 1 | a0001c0010t0007g0113 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-172-246T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700929 | ||||||
| chr18:44700980
|
G | A | 4 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033others(1): Show | 4 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.-172-195G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1/5 | chr18 | 44700980 | ||||||
| chr18:44702032
|
C | T | 5 | a0001c0001t0001g0071a0001c0001t0001g0099a0001c0001t0003g0100others(2): Show | 5 | HG02622.hp1 HG02886.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+200C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702032 | ||||||
| chr18:44702130
|
C | T | 1 | a0003c0003t0011g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.486+298C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702130 | ||||||
| chr18:44702162
|
A | G | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+330A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702162 | ||||||
| chr18:44702188
|
G | A | 8 | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0002g0127others(5): Show | 8 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.486+356G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702188 | ||||||
| chr18:44702620
|
TA | T | 6 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0002g0129others(3): Show | 6 | HG02572.hp1 HG02895.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+794delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44702620 | |||||
| chr18:44702720
|
G | T | 2 | a0001c0001t0001g0040a0001c0005t0001g0111 | 2 | HG01978.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.486+888G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702720 | ||||||
| chr18:44702848
|
C | G | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+1016C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702848 | ||||||
| chr18:44702975
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.486+1143C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44702975 | ||||||
| chr18:44703327
|
T | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+1495T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44703327 | ||||||
| chr18:44703348
|
G | GT | 5 | a0001c0001t0001g0030a0001c0001t0003g0057a0001c0010t0007g0058others(2): Show | 5 | HG01071.hp1 HG02809.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+1562dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTT | 12 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0002g0026others(9): Show | 12 | HG00099.hp2 HG01934.hp2 HG02004.hp1 others(9): Show |
intron_variant | MODIFIER | c.486+1561_486+1562d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTT | 5 | a0001c0001t0001g0046a0001c0001t0001g0065a0002c0002t0001g0023others(2): Show | 5 | HG01192.hp2 HG02055.hp2 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+1560_486+1562d others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(1): Show |
5 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0004g0006others(2): Show | 5 | HG00099.hp1 HG00741.hp2 HG02132.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+1555_486+1562d others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(4): Show |
1 | a0001c0001t0001g0028 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.486+1552_486+1562d others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(5): Show |
2 | a0001c0001t0001g0060a0004c0004t0001g0119 | 2 | HG02040.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.486+1551_486+1562d others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(6): Show |
1 | a0001c0005t0002g0031 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.486+1550_486+1562d others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(7): Show |
1 | a0001c0001t0001g0061 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.486+1549_486+1562d others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(8): Show |
1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.486+1548_486+1562d others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(11): Show |
1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.486+1545_486+1562d others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
G | GTTTTTTT others(13): Show |
1 | a0004c0015t0004g0036 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.486+1543_486+1562d others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(3): Show |
G | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.486+1553_486+1562d others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(4): Show |
G | 2 | a0001c0001t0001g0098a0002c0002t0001g0012 | 2 | HG02165.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.486+1552_486+1562d others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(5): Show |
G | 2 | a0001c0001t0002g0010a0003c0003t0018g0011 | 2 | NA18964.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.486+1551_486+1562d others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(6): Show |
G | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.486+1550_486+1562d others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(10): Show |
G | 2 | a0003c0003t0008g0051a0009c0018t0004g0050 | 2 | HG02615.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.486+1546_486+1562d others(19): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(13): Show |
G | 3 | a0001c0001t0001g0049a0001c0001t0001g0097a0003c0003t0008g0009 | 3 | HG00735.hp1 HG00735.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.486+1543_486+1562d others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(14): Show |
G | 20 | a0001c0001t0001g0096a0001c0001t0001g0105a0001c0001t0001g0120others(17): Show | 20 | HG00639.hp2 HG01167.hp1 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+1542_486+1562d others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(15): Show |
G | 37 | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0076others(34): Show | 37 | HG01070.hp2 HG01071.hp2 HG01175.hp1 others(34): Show |
intron_variant | MODIFIER | c.486+1541_486+1562d others(24): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(16): Show |
G | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.486+1540_486+1562d others(25): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(17): Show |
G | 7 | a0001c0001t0001g0137a0001c0001t0002g0127a0001c0001t0005g0138others(4): Show | 7 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.486+1539_486+1562d others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(18): Show |
G | 1 | a0010c0017t0001g0041 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.486+1538_486+1562d others(27): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(19): Show |
G | 2 | a0001c0001t0001g0005a0001c0001t0001g0032 | 2 | HG06807.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.486+1537_486+1562d others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703348
|
GTTTTTTT others(21): Show |
G | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.486+1535_486+1562d others(30): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44703348 | |||||
| chr18:44703832
|
A | G | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.486+2000A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44703832 | ||||||
| chr18:44704004
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.486+2172C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44704004 | ||||||
| chr18:44704024
|
C | T | 1 | a0001c0001t0009g0027 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.486+2192C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44704024 | ||||||
| chr18:44704362
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+2530C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44704362 | ||||||
| chr18:44704552
|
A | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+2720A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44704552 | ||||||
| chr18:44704987
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+3155C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44704987 | ||||||
| chr18:44705511
|
A | T | 7 | a0001c0001t0001g0137a0001c0001t0002g0127a0001c0001t0005g0138others(4): Show | 7 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.486+3679A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44705511 | ||||||
| chr18:44705673
|
C | T | 1 | a0002c0002t0001g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.486+3841C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44705673 | ||||||
| chr18:44706324
|
G | C | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+4492G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44706324 | ||||||
| chr18:44706401
|
C | T | 1 | a0004c0004t0007g0070 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.486+4569C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44706401 | ||||||
| chr18:44706496
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+4664G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44706496 | ||||||
| chr18:44706502
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+4670C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44706502 | ||||||
| chr18:44706591
|
C | CA | 32 | a0001c0001t0001g0008a0001c0001t0001g0040a0001c0001t0001g0060others(29): Show | 32 | HG00099.hp2 HG00639.hp2 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.486+4794dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44706591 | |||||
| chr18:44706591
|
C | CAA | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(51): Show |
intron_variant | MODIFIER | c.486+4793_486+4794d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44706591 | |||||
| chr18:44706591
|
C | CAAA | 23 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0132others(20): Show | 23 | HG00639.hp1 HG00735.hp1 HG01192.hp1 others(20): Show |
intron_variant | MODIFIER | c.486+4792_486+4794d others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44706591 | |||||
| chr18:44706591
|
C | CAAAA | 5 | a0001c0001t0002g0129a0001c0001t0003g0059a0001c0010t0007g0113others(2): Show | 5 | HG00741.hp2 HG02055.hp1 HG02165.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+4791_486+4794d others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44706591 | |||||
| chr18:44706591
|
C | CAAAAAAA others(14): Show |
1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+4774_486+4794d others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44706591 | |||||
| chr18:44706930
|
A | C | 2 | a0001c0001t0001g0137a0001c0001t0002g0127 | 2 | HG02630.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.486+5098A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44706930 | ||||||
| chr18:44707259
|
A | G | 1 | a0002c0002t0001g0073 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.486+5427A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44707259 | ||||||
| chr18:44707280
|
C | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+5448C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44707280 | ||||||
| chr18:44707467
|
A | G | 3 | a0001c0001t0001g0021a0001c0001t0015g0015a0002c0002t0001g0020 | 3 | HG00099.hp1 HG00639.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.486+5635A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44707467 | ||||||
| chr18:44707834
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.486+6002A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44707834 | ||||||
| chr18:44708309
|
G | A | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+6477G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44708309 | ||||||
| chr18:44708512
|
A | T | 53 | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0088others(50): Show | 53 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.486+6680A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44708512 | ||||||
| chr18:44708738
|
AAAAAGAA others(3): Show |
A | 106 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(103): Show | 106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.486+6926_486+6935d others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44708738 | |||||
| chr18:44709084
|
T | C | 64 | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0088others(61): Show | 64 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(61): Show |
intron_variant | MODIFIER | c.486+7252T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44709084 | ||||||
| chr18:44709166
|
T | C | 3 | a0001c0001t0005g0079a0001c0001t0005g0087a0002c0002t0004g0095 | 3 | HG02630.hp1 HG02896.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.486+7334T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44709166 | ||||||
| chr18:44709331
|
A | G | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.486+7499A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44709331 | ||||||
| chr18:44709636
|
G | T | 107 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(104): Show | 107 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show |
intron_variant | MODIFIER | c.486+7804G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44709636 | ||||||
| chr18:44709645
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+7813A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44709645 | ||||||
| chr18:44709812
|
A | AT | 81 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0016others(78): Show | 81 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(78): Show |
intron_variant | MODIFIER | c.486+8000dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44709812 | |||||
| chr18:44709812
|
A | ATT | 18 | a0001c0001t0001g0068a0001c0001t0001g0120a0001c0001t0001g0126others(15): Show | 18 | HG00735.hp1 HG01934.hp1 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.486+7999_486+8000d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44709812 | |||||
| chr18:44710194
|
A | G | 1 | a0001c0001t0009g0077 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.486+8362A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44710194 | ||||||
| chr18:44710426
|
G | A | 2 | a0003c0003t0017g0052a0004c0004t0001g0053 | 2 | HG02132.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.486+8594G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44710426 | ||||||
| chr18:44710450
|
G | GT | 121 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(118): Show | 121 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
intron_variant | MODIFIER | c.486+8637dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44710450 | |||||
| chr18:44710450
|
G | GTT | 8 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0001g0060others(5): Show | 8 | HG00438.hp1 HG00438.hp2 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.486+8636_486+8637d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44710450 | |||||
| chr18:44710612
|
C | T | 1 | a0001c0001t0003g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.486+8780C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44710612 | ||||||
| chr18:44710671
|
C | T | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.486+8839C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44710671 | ||||||
| chr18:44711007
|
T | C | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.486+9175T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711007 | ||||||
| chr18:44711358
|
GCTTC | G | 105 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(102): Show | 105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.486+9551_486+9554d others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44711358 | |||||
| chr18:44711388
|
T | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+9556T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711388 | ||||||
| chr18:44711400
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+9568C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711400 | ||||||
| chr18:44711402
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+9570C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711402 | ||||||
| chr18:44711423
|
TCTCCCTT others(5): Show |
T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+9606_486+9617d others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44711423 | |||||
| chr18:44711579
|
G | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+9747G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711579 | ||||||
| chr18:44711693
|
T | C | 2 | a0001c0001t0001g0032a0002c0002t0019g0128 | 2 | HG06807.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.486+9861T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44711693 | ||||||
| chr18:44711704
|
A | AT | 106 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(103): Show | 106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.486+9891dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44711704 | |||||
| chr18:44712119
|
C | T | 23 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(20): Show | 23 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(20): Show |
intron_variant | MODIFIER | c.486+10287C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712119 | ||||||
| chr18:44712154
|
T | C | 2 | a0001c0001t0001g0137a0001c0001t0002g0127 | 2 | HG02630.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.486+10322T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712154 | ||||||
| chr18:44712208
|
C | A | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+10376C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712208 | ||||||
| chr18:44712236
|
A | C | 7 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0001g0140others(4): Show | 7 | HG02572.hp1 HG02622.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.486+10404A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712236 | ||||||
| chr18:44712301
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+10469C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712301 | ||||||
| chr18:44712373
|
T | G | 25 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(22): Show | 25 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(22): Show |
intron_variant | MODIFIER | c.486+10541T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712373 | ||||||
| chr18:44712465
|
C | T | 2 | a0001c0001t0001g0122a0012c0014t0001g0104 | 2 | HG02647.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.486+10633C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712465 | ||||||
| chr18:44712832
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.486+11000C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712832 | ||||||
| chr18:44712882
|
T | G | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+11050T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44712882 | ||||||
| chr18:44712953
|
CT | C | 118 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(115): Show | 118 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.486+11144delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44712953 | |||||
| chr18:44712953
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0061 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.486+11133_486+1114 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44712953 | |||||
| chr18:44713011
|
G | T | 132 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.486+11179G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44713011 | ||||||
| chr18:44713249
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+11417G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44713249 | ||||||
| chr18:44714008
|
C | T | 3 | a0001c0001t0001g0098a0004c0004t0001g0085a0007c0008t0002g0086 | 3 | HG01978.hp2 HG02165.hp2 NA18963.hp1 |
intron_variant | MODIFIER | c.486+12176C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44714008 | ||||||
| chr18:44714015
|
G | A | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.486+12183G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44714015 | ||||||
| chr18:44714524
|
A | G | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.486+12692A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44714524 | ||||||
| chr18:44714625
|
C | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.486+12793C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44714625 | ||||||
| chr18:44714661
|
C | T | 2 | a0001c0001t0001g0091a0001c0001t0002g0102 | 2 | NA18981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.486+12829C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44714661 | ||||||
| chr18:44715310
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+13478C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44715310 | ||||||
| chr18:44715418
|
G | A | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.486+13586G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44715418 | ||||||
| chr18:44715630
|
A | G | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.486+13798A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44715630 | ||||||
| chr18:44715678
|
G | A | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.486+13846G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44715678 | ||||||
| chr18:44716149
|
G | A | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.486+14317G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716149 | ||||||
| chr18:44716295
|
A | C | 112 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(109): Show | 112 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.486+14463A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716295 | ||||||
| chr18:44716302
|
C | T | 2 | a0001c0001t0001g0055a0001c0001t0001g0060 | 2 | HG00438.hp1 HG02040.hp2 |
intron_variant | MODIFIER | c.486+14470C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716302 | ||||||
| chr18:44716377
|
G | A | 73 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0055others(70): Show | 73 | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.486+14545G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716377 | ||||||
| chr18:44716405
|
C | A | 3 | a0001c0001t0001g0134a0001c0001t0002g0129a0001c0009t0002g0133 | 3 | HG02572.hp1 HG03225.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.486+14573C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716405 | ||||||
| chr18:44716533
|
G | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+14701G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716533 | ||||||
| chr18:44716723
|
C | T | 2 | a0001c0001t0001g0029a0001c0001t0002g0125 | 2 | HG02486.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.486+14891C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716723 | ||||||
| chr18:44716760
|
C | T | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.486+14928C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716760 | ||||||
| chr18:44716949
|
C | A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.486+15117C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44716949 | ||||||
| chr18:44717180
|
T | C | 9 | a0001c0001t0002g0010a0001c0001t0025g0042a0001c0005t0001g0112others(6): Show | 9 | HG01934.hp2 HG02080.hp1 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.486+15348T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44717180 | ||||||
| chr18:44717619
|
G | A | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+15787G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44717619 | ||||||
| chr18:44717721
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.486+15889C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44717721 | ||||||
| chr18:44717891
|
T | C | 24 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(21): Show | 24 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.486+16059T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44717891 | ||||||
| chr18:44717914
|
C | CTG | 25 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(22): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.486+16099_486+1610 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44717914 | |||||
| chr18:44718219
|
T | C | 9 | a0001c0001t0002g0010a0001c0001t0025g0042a0001c0005t0001g0112others(6): Show | 9 | HG01934.hp2 HG02080.hp1 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.486+16387T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44718219 | ||||||
| chr18:44718329
|
G | A | 77 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0055others(74): Show | 77 | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(74): Show |
intron_variant | MODIFIER | c.486+16497G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44718329 | ||||||
| chr18:44718358
|
A | G | 24 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(21): Show | 24 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.486+16526A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44718358 | ||||||
| chr18:44718399
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.486+16567C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44718399 | ||||||
| chr18:44718476
|
AAG | A | 19 | a0001c0001t0001g0021a0001c0001t0001g0044a0001c0001t0001g0049others(16): Show | 19 | HG00099.hp1 HG00438.hp2 HG01175.hp2 others(16): Show |
intron_variant | MODIFIER | c.486+16661_486+1666 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44718476 | |||||
| chr18:44718812
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.486+16980C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44718812 | ||||||
| chr18:44719084
|
A | T | 76 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0055others(73): Show | 76 | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.486+17252A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44719084 | ||||||
| chr18:44719380
|
C | T | 18 | a0001c0001t0001g0021a0001c0001t0001g0044a0001c0001t0001g0049others(15): Show | 18 | HG00099.hp1 HG00438.hp2 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.486+17548C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44719380 | ||||||
| chr18:44720076
|
C | T | 1 | a0001c0001t0025g0042 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.486+18244C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720076 | ||||||
| chr18:44720129
|
A | G | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+18297A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720129 | ||||||
| chr18:44720130
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.486+18298C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720130 | ||||||
| chr18:44720314
|
ATAAC | A | 2 | a0001c0001t0001g0122a0012c0014t0001g0104 | 2 | HG02647.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.486+18490_486+1849 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44720314 | |||||
| chr18:44720379
|
G | A | 1 | a0001c0001t0002g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.486+18547G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720379 | ||||||
| chr18:44720460
|
A | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.486+18628A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720460 | ||||||
| chr18:44720727
|
G | T | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.486+18895G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720727 | ||||||
| chr18:44720806
|
T | C | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.486+18974T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720806 | ||||||
| chr18:44720901
|
A | AC | 11 | a0001c0001t0001g0099a0001c0001t0003g0100a0001c0001t0005g0087others(8): Show | 11 | HG01175.hp2 HG01192.hp2 HG02004.hp1 others(8): Show |
intron_variant | MODIFIER | c.486+19074dupC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44720901 | |||||
| chr18:44720903
|
C | T | 8 | a0001c0001t0002g0010a0001c0001t0025g0042a0002c0002t0001g0012others(5): Show | 8 | HG01934.hp2 HG02080.hp1 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.486+19071C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720903 | ||||||
| chr18:44720906
|
CA | C | 66 | a0001c0001t0001g0030a0001c0001t0001g0055a0001c0001t0001g0060others(63): Show | 66 | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.486+19075delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720906 | ||||||
| chr18:44720907
|
A | C | 45 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0040others(42): Show | 45 | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.486+19075A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720907 | ||||||
| chr18:44720909
|
C | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+19077C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720909 | ||||||
| chr18:44720910
|
C | A | 63 | a0001c0001t0001g0030a0001c0001t0001g0055a0001c0001t0001g0060others(60): Show | 63 | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.486+19078C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720910 | ||||||
| chr18:44720910
|
C | G | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+19078C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720910 | ||||||
| chr18:44720988
|
A | G | 8 | a0001c0001t0001g0040a0001c0001t0001g0046a0001c0001t0001g0065others(5): Show | 8 | HG00099.hp2 HG01192.hp2 HG01496.hp1 others(5): Show |
intron_variant | MODIFIER | c.486+19156A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44720988 | ||||||
| chr18:44721748
|
A | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+19916A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44721748 | ||||||
| chr18:44721862
|
A | G | 4 | a0002c0002t0001g0023a0002c0002t0001g0025a0002c0002t0001g0073others(1): Show | 4 | HG02055.hp2 HG02622.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.486+20030A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44721862 | ||||||
| chr18:44721877
|
G | T | 64 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0030others(61): Show | 64 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(61): Show |
intron_variant | MODIFIER | c.486+20045G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44721877 | ||||||
| chr18:44721942
|
C | CAAATCTT others(97): Show |
16 | a0001c0001t0001g0040a0001c0001t0001g0046a0001c0001t0001g0049others(13): Show | 16 | HG01175.hp2 HG01192.hp2 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.486+20215_486+2031 others(108): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44721942 | |||||
| chr18:44721942
|
C | CAAATCTT others(201): Show |
1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.486+20111_486+2031 others(212): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44721942 | |||||
| chr18:44721942
|
C | CAAATCTT others(305): Show |
1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.486+20318_486+2031 others(316): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44721942 | |||||
| chr18:44721942
|
C | CAAATCTT others(97): Show |
3 | a0001c0001t0001g0105a0001c0001t0005g0138a0001c0009t0002g0106 | 3 | HG02615.hp2 HG02717.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.486+20155_486+2015 others(108): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44721942 | |||||
| chr18:44721942
|
C | CAAATCTT others(97): Show |
1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.486+20136_486+2013 others(108): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44721942 | |||||
| chr18:44721955
|
C | T | 6 | a0001c0001t0002g0010a0001c0001t0025g0042a0002c0002t0001g0012others(3): Show | 6 | HG02080.hp1 HG02165.hp1 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+20123C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44721955 | ||||||
| chr18:44722102
|
G | GTATCTGG others(97): Show |
1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.486+20318_486+2031 others(108): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44722102 | |||||
| chr18:44722185
|
G | A | 2 | a0001c0001t0002g0026a0001c0001t0009g0027 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.486+20353G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44722185 | ||||||
| chr18:44722186
|
A | G | 2 | a0001c0001t0001g0032a0002c0002t0019g0128 | 2 | HG06807.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.486+20354A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44722186 | ||||||
| chr18:44722282
|
C | G | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.486+20450C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44722282 | ||||||
| chr18:44722636
|
G | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+20804G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44722636 | ||||||
| chr18:44722873
|
G | A | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+21041G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44722873 | ||||||
| chr18:44723499
|
G | A | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.486+21667G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44723499 | ||||||
| chr18:44723554
|
A | G | 1 | a0001c0001t0001g0132 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.486+21722A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44723554 | ||||||
| chr18:44723966
|
C | T | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.486+22134C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44723966 | ||||||
| chr18:44724135
|
A | G | 19 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(16): Show | 19 | HG00099.hp2 HG00140.hp2 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.486+22303A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44724135 | ||||||
| chr18:44724206
|
G | T | 3 | a0001c0001t0001g0117a0001c0001t0002g0118a0001c0001t0006g0056 | 3 | HG00741.hp1 HG01074.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.486+22374G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44724206 | ||||||
| chr18:44724322
|
C | T | 1 | a0007c0008t0002g0086 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.486+22490C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44724322 | ||||||
| chr18:44724424
|
A | G | 7 | a0001c0001t0002g0010a0001c0001t0025g0042a0002c0002t0001g0012others(4): Show | 7 | HG02080.hp1 HG02165.hp1 HG03654.hp2 others(4): Show |
intron_variant | MODIFIER | c.486+22592A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44724424 | ||||||
| chr18:44724456
|
A | G | 19 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(16): Show | 19 | HG00099.hp2 HG00140.hp2 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.486+22624A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44724456 | ||||||
| chr18:44724625
|
TAGCCTGT others(6): Show |
T | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.486+22798_486+2281 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44724625 | |||||
| chr18:44725013
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+23181C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725013 | ||||||
| chr18:44725146
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+23314C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725146 | ||||||
| chr18:44725150
|
G | A | 1 | a0001c0001t0001g0029 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.486+23318G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725150 | ||||||
| chr18:44725742
|
C | T | 1 | a0004c0015t0004g0036 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.486+23910C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725742 | ||||||
| chr18:44725871
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+24039A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725871 | ||||||
| chr18:44725948
|
G | C | 3 | a0001c0001t0001g0067a0001c0001t0001g0105a0001c0009t0002g0106 | 3 | HG01167.hp2 HG02615.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.486+24116G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44725948 | ||||||
| chr18:44726919
|
G | T | 49 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0021others(46): Show | 49 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(46): Show |
intron_variant | MODIFIER | c.486+25087G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44726919 | ||||||
| chr18:44727186
|
C | CTCTGTGT others(3): Show |
2 | a0001c0001t0001g0076a0001c0001t0009g0077 | 2 | HG03225.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.486+25355_486+2535 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTG | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+25386_486+2538 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTG | 10 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0137others(7): Show | 10 | HG02080.hp1 HG02165.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+25384_486+2538 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTG | 10 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0096others(7): Show | 10 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+25382_486+2538 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(1): Show |
5 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0117others(2): Show | 5 | HG01258.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+25380_486+2538 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(3): Show |
10 | a0001c0001t0001g0032a0001c0001t0001g0093a0001c0001t0001g0120others(7): Show | 10 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+25378_486+2538 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(5): Show |
20 | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0055others(17): Show | 20 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+25376_486+2538 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(7): Show |
5 | a0001c0001t0001g0060a0001c0001t0001g0097a0001c0001t0003g0059others(2): Show | 5 | HG00735.hp2 HG02040.hp1 HG02040.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+25374_486+2538 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(9): Show |
6 | a0001c0001t0002g0026a0001c0010t0007g0058a0001c0010t0007g0113others(3): Show | 6 | HG01070.hp1 HG01074.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+25372_486+2538 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
C | CTGTGTGT others(11): Show |
1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.486+25370_486+2538 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727186
|
CTGTGTGT others(5): Show |
C | 29 | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0046others(26): Show | 29 | HG00099.hp2 HG00639.hp2 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.486+25376_486+2538 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44727186 | |||||
| chr18:44727188
|
G | C | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+25356G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727188 | ||||||
| chr18:44727243
|
T | G | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.486+25411T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727243 | ||||||
| chr18:44727321
|
G | A | 4 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0097others(1): Show | 4 | HG00099.hp1 HG00735.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+25489G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727321 | ||||||
| chr18:44727387
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+25555C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727387 | ||||||
| chr18:44727414
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.486+25582A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727414 | ||||||
| chr18:44727817
|
A | T | 5 | a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0009g0077others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+25985A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727817 | ||||||
| chr18:44727986
|
C | T | 2 | a0002c0002t0001g0121a0003c0003t0001g0139 | 2 | HG01261.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.486+26154C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44727986 | ||||||
| chr18:44728007
|
G | T | 5 | a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0009g0077others(2): Show | 5 | HG02486.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+26175G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728007 | ||||||
| chr18:44728014
|
C | T | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.486+26182C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728014 | ||||||
| chr18:44728023
|
T | C | 8 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0097others(5): Show | 8 | HG00099.hp1 HG00735.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.486+26191T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728023 | ||||||
| chr18:44728207
|
A | C | 5 | a0001c0001t0003g0037a0001c0001t0003g0059a0001c0010t0007g0058others(2): Show | 5 | HG02055.hp1 HG02809.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+26375A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728207 | ||||||
| chr18:44728675
|
T | G | 105 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(102): Show | 105 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.486+26843T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728675 | ||||||
| chr18:44728713
|
A | G | 10 | a0001c0001t0001g0017a0001c0001t0001g0032a0001c0001t0001g0040others(7): Show | 10 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+26881A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44728713 | ||||||
| chr18:44729007
|
C | T | 29 | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0046others(26): Show | 29 | HG00099.hp2 HG00639.hp2 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.486+27175C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44729007 | ||||||
| chr18:44729100
|
C | T | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.486+27268C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44729100 | ||||||
| chr18:44729745
|
G | A | 2 | a0002c0002t0001g0121a0003c0003t0001g0139 | 2 | HG01261.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.486+27913G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44729745 | ||||||
| chr18:44729766
|
A | C | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+27934A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44729766 | ||||||
| chr18:44729821
|
T | C | 67 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(64): Show | 67 | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.486+27989T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44729821 | ||||||
| chr18:44730002
|
C | T | 2 | a0001c0010t0007g0058a0001c0010t0007g0113 | 2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.486+28170C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730002 | ||||||
| chr18:44730118
|
A | G | 3 | a0001c0001t0001g0067a0001c0001t0001g0071a0008c0011t0004g0124 | 3 | HG01167.hp2 HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.486+28286A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730118 | ||||||
| chr18:44730253
|
T | C | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.486+28421T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730253 | ||||||
| chr18:44730264
|
C | G | 49 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0032others(46): Show | 49 | HG00438.hp2 HG00741.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.486+28432C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730264 | ||||||
| chr18:44730298
|
G | A | 1 | a0001c0001t0015g0015 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.486+28466G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730298 | ||||||
| chr18:44730399
|
T | C | 95 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(92): Show | 95 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(92): Show |
intron_variant | MODIFIER | c.486+28567T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730399 | ||||||
| chr18:44730599
|
G | T | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+28767G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730599 | ||||||
| chr18:44730765
|
T | C | 45 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(42): Show | 45 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.486+28933T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44730765 | ||||||
| chr18:44731072
|
G | A | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.486+29240G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44731072 | ||||||
| chr18:44731631
|
T | TAC | 11 | a0001c0001t0001g0029a0001c0001t0001g0067a0001c0001t0001g0071others(8): Show | 11 | HG01167.hp2 HG02055.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.486+29820_486+2982 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44731631 | |||||
| chr18:44731631
|
T | TACAC | 2 | a0003c0003t0001g0139a0006c0007t0023g0062 | 2 | HG01261.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.486+29818_486+2982 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44731631 | |||||
| chr18:44731631
|
TAC | T | 2 | a0001c0001t0001g0065a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.486+29820_486+2982 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44731631 | |||||
| chr18:44731639
|
C | T | 10 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0060others(7): Show | 10 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+29807C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44731639 | ||||||
| chr18:44731652
|
A | G | 10 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0060others(7): Show | 10 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+29820A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44731652 | ||||||
| chr18:44732364
|
G | A | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.486+30532G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44732364 | ||||||
| chr18:44732454
|
A | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+30622A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44732454 | ||||||
| chr18:44732757
|
A | G | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+30925A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44732757 | ||||||
| chr18:44732783
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+30951C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44732783 | ||||||
| chr18:44733087
|
T | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+31255T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44733087 | ||||||
| chr18:44733095
|
G | C | 10 | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0001g0140others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+31263G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44733095 | ||||||
| chr18:44733297
|
G | A | 21 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0067others(18): Show | 21 | HG00140.hp2 HG00639.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.486+31465G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44733297 | ||||||
| chr18:44733344
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+31512T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44733344 | ||||||
| chr18:44733745
|
G | A | 15 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0068others(12): Show | 15 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.486+31913G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44733745 | ||||||
| chr18:44734000
|
C | T | 2 | a0001c0001t0003g0037a0002c0002t0019g0128 | 2 | HG02922.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.486+32168C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734000 | ||||||
| chr18:44734044
|
C | G | 15 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0068others(12): Show | 15 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.486+32212C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734044 | ||||||
| chr18:44734067
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.486+32235G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734067 | ||||||
| chr18:44734096
|
G | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+32264G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734096 | ||||||
| chr18:44734097
|
G | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+32265G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734097 | ||||||
| chr18:44734378
|
T | G | 1 | a0001c0001t0001g0126 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.486+32546T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734378 | ||||||
| chr18:44734527
|
T | C | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+32695T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734527 | ||||||
| chr18:44734532
|
A | G | 4 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0097others(1): Show | 4 | HG00099.hp1 HG00735.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+32700A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734532 | ||||||
| chr18:44734666
|
C | T | 46 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.486+32834C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734666 | ||||||
| chr18:44734716
|
G | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0060others(7): Show | 10 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+32884G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44734716 | ||||||
| chr18:44735144
|
A | G | 47 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(44): Show | 47 | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.486+33312A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735144 | ||||||
| chr18:44735227
|
T | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+33395T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735227 | ||||||
| chr18:44735240
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+33408C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735240 | ||||||
| chr18:44735593
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+33761G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735593 | ||||||
| chr18:44735637
|
T | C | 20 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(17): Show | 20 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+33805T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735637 | ||||||
| chr18:44735748
|
C | T | 3 | a0001c0001t0001g0067a0001c0001t0001g0105a0001c0009t0002g0106 | 3 | HG01167.hp2 HG02615.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.486+33916C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735748 | ||||||
| chr18:44735855
|
C | G | 46 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.486+34023C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44735855 | ||||||
| chr18:44736179
|
G | A | 7 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0015g0015others(4): Show | 7 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.486+34347G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44736179 | ||||||
| chr18:44736221
|
T | TA | 20 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(17): Show | 20 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+34396dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44736221 | |||||
| chr18:44736232
|
A | T | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.486+34400A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44736232 | ||||||
| chr18:44736332
|
T | C | 10 | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0001g0140others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+34500T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44736332 | ||||||
| chr18:44736389
|
A | G | 46 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(43): Show | 46 | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.486+34557A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44736389 | ||||||
| chr18:44736939
|
T | C | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.486+35107T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44736939 | ||||||
| chr18:44737310
|
T | C | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.486+35478T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737310 | ||||||
| chr18:44737385
|
G | A | 1 | a0007c0008t0002g0086 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.486+35553G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737385 | ||||||
| chr18:44737739
|
C | T | 20 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(17): Show | 20 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+35907C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737739 | ||||||
| chr18:44737769
|
A | G | 2 | a0003c0003t0011g0064a0004c0004t0001g0119 | 2 | HG02080.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.486+35937A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737769 | ||||||
| chr18:44737813
|
G | A | 1 | a0001c0005t0002g0115 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.486+35981G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737813 | ||||||
| chr18:44737825
|
T | G | 15 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0068others(12): Show | 15 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(12): Show |
intron_variant | MODIFIER | c.486+35993T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44737825 | ||||||
| chr18:44738223
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0002g0102a0004c0015t0004g0036 | 3 | NA18964.hp2 NA18981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.486+36391C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738223 | ||||||
| chr18:44738348
|
C | G | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.486+36516C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738348 | ||||||
| chr18:44738539
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+36707C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738539 | ||||||
| chr18:44738618
|
A | G | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+36786A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738618 | ||||||
| chr18:44738633
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+36801G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738633 | ||||||
| chr18:44738734
|
A | G | 4 | a0001c0012t0003g0069a0002c0002t0006g0048a0003c0003t0001g0047others(1): Show | 4 | HG01192.hp2 HG01258.hp1 HG01496.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+36902A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738734 | ||||||
| chr18:44738761
|
G | A | 46 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.486+36929G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738761 | ||||||
| chr18:44738773
|
C | CA | 24 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(21): Show | 24 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(21): Show |
intron_variant | MODIFIER | c.486+36959dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44738773 | |||||
| chr18:44738785
|
A | G | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.486+36953A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738785 | ||||||
| chr18:44738852
|
G | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+37020G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44738852 | ||||||
| chr18:44739019
|
C | T | 10 | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0001g0140others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+37187C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739019 | ||||||
| chr18:44739152
|
C | G | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+37320C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739152 | ||||||
| chr18:44739323
|
T | C | 112 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(109): Show | 112 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.486+37491T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739323 | ||||||
| chr18:44739376
|
A | C | 7 | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0098others(4): Show | 7 | HG01978.hp2 HG02165.hp2 HG02523.hp2 others(4): Show |
intron_variant | MODIFIER | c.486+37544A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739376 | ||||||
| chr18:44739699
|
A | G | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.486+37867A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739699 | ||||||
| chr18:44739741
|
T | C | 46 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(43): Show | 46 | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.486+37909T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44739741 | ||||||
| chr18:44740146
|
G | A | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+38314G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740146 | ||||||
| chr18:44740262
|
T | A | 7 | a0001c0001t0002g0010a0001c0001t0025g0042a0001c0005t0020g0072others(4): Show | 7 | HG02080.hp1 HG02165.hp1 HG03654.hp2 others(4): Show |
intron_variant | MODIFIER | c.486+38430T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740262 | ||||||
| chr18:44740313
|
G | A | 2 | a0001c0001t0001g0076a0001c0001t0009g0077 | 2 | HG03225.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.486+38481G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740313 | ||||||
| chr18:44740557
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+38725G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740557 | ||||||
| chr18:44740677
|
A | G | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.486+38845A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740677 | ||||||
| chr18:44740945
|
C | G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.486+39113C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740945 | ||||||
| chr18:44740946
|
G | A | 20 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(17): Show | 20 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+39114G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44740946 | ||||||
| chr18:44741257
|
C | T | 135 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(132): Show | 135 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
intron_variant | MODIFIER | c.486+39425C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44741257 | ||||||
| chr18:44741526
|
T | C | 2 | a0001c0001t0003g0037a0002c0002t0019g0128 | 2 | HG02922.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.486+39694T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44741526 | ||||||
| chr18:44742399
|
T | C | 10 | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0001g0140others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+40567T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742399 | ||||||
| chr18:44742469
|
C | T | 10 | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0001g0140others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+40637C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742469 | ||||||
| chr18:44742477
|
A | C | 4 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0097others(1): Show | 4 | HG00099.hp1 HG00735.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+40645A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742477 | ||||||
| chr18:44742620
|
T | C | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.486+40788T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742620 | ||||||
| chr18:44742947
|
TTC | T | 2 | a0001c0001t0002g0125a0002c0002t0002g0045 | 2 | HG02602.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.486+41138_486+4113 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44742947 | |||||
| chr18:44742968
|
TCTC | T | 10 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0088others(7): Show | 10 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+41138_486+4114 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44742968 | |||||
| chr18:44742977
|
CT | C | 23 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0040others(20): Show | 23 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(20): Show |
intron_variant | MODIFIER | c.486+41146delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742977 | ||||||
| chr18:44742978
|
T | C | 10 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0088others(7): Show | 10 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+41146T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44742978 | ||||||
| chr18:44743341
|
C | T | 2 | a0001c0005t0001g0111a0003c0003t0008g0009 | 2 | HG00735.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.486+41509C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44743341 | ||||||
| chr18:44743776
|
A | G | 115 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.486+41944A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44743776 | ||||||
| chr18:44743898
|
G | T | 3 | a0001c0005t0001g0084a0003c0003t0001g0082a0003c0003t0001g0083 | 3 | HG01070.hp2 HG01071.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.486+42066G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44743898 | ||||||
| chr18:44743977
|
A | G | 3 | a0001c0001t0001g0091a0001c0001t0002g0102a0004c0015t0004g0036 | 3 | NA18964.hp2 NA18981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.486+42145A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44743977 | ||||||
| chr18:44744161
|
G | A | 2 | a0004c0004t0001g0004a0004c0004t0001g0054 | 2 | HG02040.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.486+42329G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744161 | ||||||
| chr18:44744221
|
G | A | 1 | a0007c0008t0002g0086 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.486+42389G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744221 | ||||||
| chr18:44744486
|
T | C | 1 | a0002c0002t0006g0048 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.486+42654T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744486 | ||||||
| chr18:44744769
|
T | TA | 37 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0021others(34): Show | 37 | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.486+42950dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44744769 | |||||
| chr18:44744769
|
T | TAA | 12 | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0076others(9): Show | 12 | HG01175.hp1 HG02165.hp1 HG03225.hp1 others(9): Show |
intron_variant | MODIFIER | c.486+42949_486+4295 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44744769 | |||||
| chr18:44744779
|
A | C | 2 | a0001c0001t0003g0059a0001c0001t0009g0027 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.486+42947A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744779 | ||||||
| chr18:44744782
|
A | AAC | 18 | a0001c0001t0001g0034a0001c0001t0001g0049a0001c0001t0001g0068others(15): Show | 18 | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.486+42950_486+4295 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744782 | ||||||
| chr18:44744783
|
C | A | 22 | a0001c0001t0001g0034a0001c0001t0001g0049a0001c0001t0001g0068others(19): Show | 22 | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+42951C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744783 | ||||||
| chr18:44744783
|
C | CA | 17 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(14): Show | 17 | HG00140.hp2 HG01175.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.486+42962dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44744783 | |||||
| chr18:44744784
|
A | C | 2 | a0002c0002t0001g0025a0002c0002t0001g0074 | 2 | HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+42952A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744784 | ||||||
| chr18:44744812
|
C | T | 3 | a0001c0001t0001g0117a0001c0001t0002g0118a0001c0001t0006g0056 | 3 | HG00741.hp1 HG01074.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.486+42980C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744812 | ||||||
| chr18:44744882
|
A | C | 2 | a0001c0001t0003g0059a0001c0001t0009g0027 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.486+43050A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44744882 | ||||||
| chr18:44745138
|
T | C | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.486+43306T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44745138 | ||||||
| chr18:44745165
|
A | G | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+43333A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44745165 | ||||||
| chr18:44745921
|
G | A | 46 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.486+44089G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44745921 | ||||||
| chr18:44746030
|
G | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+44198G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746030 | ||||||
| chr18:44746122
|
A | C | 3 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127 | 3 | HG02630.hp2 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.486+44290A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746122 | ||||||
| chr18:44746168
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+44336C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746168 | ||||||
| chr18:44746454
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0040others(29): Show | 32 | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.486+44622T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746454 | ||||||
| chr18:44746857
|
T | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+45025T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746857 | ||||||
| chr18:44746950
|
C | T | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.486+45118C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44746950 | ||||||
| chr18:44747009
|
A | C | 46 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.486+45177A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44747009 | ||||||
| chr18:44747055
|
C | T | 2 | a0001c0001t0003g0037a0002c0002t0019g0128 | 2 | HG02922.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.486+45223C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44747055 | ||||||
| chr18:44747913
|
C | T | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.486+46081C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44747913 | ||||||
| chr18:44747928
|
A | G | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+46096A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44747928 | ||||||
| chr18:44748108
|
G | A | 1 | a0003c0003t0008g0051 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.486+46276G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748108 | ||||||
| chr18:44748128
|
C | G | 18 | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0034others(15): Show | 18 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.486+46296C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748128 | ||||||
| chr18:44748316
|
T | G | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+46484T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748316 | ||||||
| chr18:44748457
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.486+46625A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748457 | ||||||
| chr18:44748627
|
G | A | 22 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(19): Show | 22 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(19): Show |
intron_variant | MODIFIER | c.486+46795G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748627 | ||||||
| chr18:44748771
|
G | A | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+46939G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748771 | ||||||
| chr18:44748808
|
G | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.486+46976G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748808 | ||||||
| chr18:44748832
|
C | T | 20 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0088others(17): Show | 20 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+47000C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44748832 | ||||||
| chr18:44749111
|
C | A | 7 | a0001c0001t0001g0065a0001c0001t0002g0039a0001c0012t0003g0069others(4): Show | 7 | HG00099.hp2 HG01192.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.486+47279C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44749111 | ||||||
| chr18:44750091
|
C | T | 20 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(17): Show | 20 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+48259C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44750091 | ||||||
| chr18:44750092
|
A | G | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+48260A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44750092 | ||||||
| chr18:44750407
|
T | A | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.486+48575T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44750407 | ||||||
| chr18:44750492
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+48660G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44750492 | ||||||
| chr18:44750501
|
A | C | 20 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0068others(17): Show | 20 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+48669A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44750501 | ||||||
| chr18:44751571
|
CTTTA | C | 17 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0068others(14): Show | 17 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.486+49743_486+4974 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44751571 | |||||
| chr18:44751680
|
A | G | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+49848A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44751680 | ||||||
| chr18:44751732
|
T | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+49900T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44751732 | ||||||
| chr18:44752090
|
C | A | 91 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0017others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(88): Show |
intron_variant | MODIFIER | c.486+50258C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44752090 | ||||||
| chr18:44752235
|
G | A | 3 | a0001c0001t0002g0066a0002c0002t0001g0136a0002c0002t0002g0135 | 3 | HG01070.hp1 HG01074.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.486+50403G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44752235 | ||||||
| chr18:44752301
|
G | A | 21 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(18): Show | 21 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(18): Show |
intron_variant | MODIFIER | c.486+50469G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44752301 | ||||||
| chr18:44752406
|
G | A | 91 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0017others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(88): Show |
intron_variant | MODIFIER | c.486+50574G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44752406 | ||||||
| chr18:44753010
|
T | C | 21 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0071others(18): Show | 21 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(18): Show |
intron_variant | MODIFIER | c.486+51178T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753010 | ||||||
| chr18:44753229
|
T | C | 1 | a0003c0003t0011g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.486+51397T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753229 | ||||||
| chr18:44753318
|
G | A | 4 | a0001c0001t0001g0061a0002c0002t0001g0025a0002c0002t0001g0073others(1): Show | 4 | HG02622.hp1 HG02723.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.486+51486G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753318 | ||||||
| chr18:44753443
|
G | A | 135 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(132): Show | 135 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
intron_variant | MODIFIER | c.486+51611G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753443 | ||||||
| chr18:44753724
|
C | T | 1 | a0001c0001t0002g0118 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.486+51892C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753724 | ||||||
| chr18:44753936
|
C | A | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.486+52104C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753936 | ||||||
| chr18:44753961
|
C | G | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+52129C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44753961 | ||||||
| chr18:44754098
|
A | G | 2 | a0001c0001t0001g0068a0006c0007t0002g0114 | 2 | HG01496.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.486+52266A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754098 | ||||||
| chr18:44754200
|
A | C | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+52368A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754200 | ||||||
| chr18:44754326
|
G | A | 19 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0088others(16): Show | 19 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.486+52494G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754326 | ||||||
| chr18:44754340
|
T | A | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.486+52508T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754340 | ||||||
| chr18:44754716
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.486+52884T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754716 | ||||||
| chr18:44754935
|
T | G | 22 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(19): Show | 22 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(19): Show |
intron_variant | MODIFIER | c.486+53103T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44754935 | ||||||
| chr18:44755362
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+53530G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44755362 | ||||||
| chr18:44755598
|
G | A | 4 | a0001c0001t0002g0129a0001c0001t0003g0001a0001c0001t0003g0100others(1): Show | 4 | HG02109.hp2 HG02572.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+53766G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44755598 | ||||||
| chr18:44755703
|
G | A | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.486+53871G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44755703 | ||||||
| chr18:44755810
|
C | T | 1 | a0001c0001t0001g0021 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.486+53978C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44755810 | ||||||
| chr18:44755938
|
G | A | 3 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127 | 3 | HG02630.hp2 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.486+54106G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44755938 | ||||||
| chr18:44756077
|
T | C | 108 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(105): Show | 108 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(105): Show |
intron_variant | MODIFIER | c.486+54245T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44756077 | ||||||
| chr18:44756171
|
C | T | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.486+54339C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44756171 | ||||||
| chr18:44756216
|
CA | C | 17 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(14): Show | 17 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.486+54399delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44756216 | |||||
| chr18:44756457
|
G | C | 69 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0021others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.486+54625G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44756457 | ||||||
| chr18:44756800
|
C | G | 3 | a0001c0001t0001g0034a0001c0001t0010g0035a0001c0001t0012g0033 | 3 | HG02486.hp2 HG02976.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.486+54968C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44756800 | ||||||
| chr18:44756929
|
G | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+55097G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44756929 | ||||||
| chr18:44757394
|
C | T | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+55562C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44757394 | ||||||
| chr18:44757438
|
A | C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+55606A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44757438 | ||||||
| chr18:44757666
|
A | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+55834A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44757666 | ||||||
| chr18:44757673
|
C | T | 1 | a0001c0001t0001g0098 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.486+55841C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44757673 | ||||||
| chr18:44757686
|
C | A | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.486+55854C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44757686 | ||||||
| chr18:44758064
|
A | G | 20 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0061others(17): Show | 20 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+56232A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758064 | ||||||
| chr18:44758080
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+56248C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758080 | ||||||
| chr18:44758105
|
G | A | 109 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(106): Show | 109 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(106): Show |
intron_variant | MODIFIER | c.486+56273G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758105 | ||||||
| chr18:44758214
|
A | T | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+56382A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758214 | ||||||
| chr18:44758325
|
C | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+56493C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758325 | ||||||
| chr18:44758326
|
T | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+56494T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758326 | ||||||
| chr18:44758384
|
A | AT | 19 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(16): Show | 19 | HG00140.hp2 HG00639.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.486+56568dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44758384 | |||||
| chr18:44758390
|
T | TA | 2 | a0001c0001t0003g0037a0002c0002t0014g0130 | 2 | HG02922.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.486+56558_486+5655 others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758390 | ||||||
| chr18:44758497
|
C | T | 16 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(13): Show | 16 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.486+56665C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758497 | ||||||
| chr18:44758539
|
C | T | 69 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0021others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.486+56707C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758539 | ||||||
| chr18:44758739
|
T | C | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.486+56907T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758739 | ||||||
| chr18:44758977
|
C | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+57145C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44758977 | ||||||
| chr18:44759137
|
A | C | 17 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0044others(14): Show | 17 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.486+57305A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44759137 | ||||||
| chr18:44759382
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+57550C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44759382 | ||||||
| chr18:44759714
|
A | C | 1 | a0010c0017t0001g0041 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.486+57882A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44759714 | ||||||
| chr18:44759757
|
T | C | 21 | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0061others(18): Show | 21 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.486+57925T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44759757 | ||||||
| chr18:44760761
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.486+58929G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44760761 | ||||||
| chr18:44761057
|
G | A | 1 | a0002c0002t0002g0135 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.486+59225G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761057 | ||||||
| chr18:44761336
|
C | A | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.486+59504C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761336 | ||||||
| chr18:44761354
|
T | C | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+59522T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761354 | ||||||
| chr18:44761543
|
T | G | 10 | a0001c0001t0001g0068a0001c0001t0001g0093a0001c0001t0001g0117others(7): Show | 10 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+59711T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761543 | ||||||
| chr18:44761567
|
A | G | 1 | a0001c0001t0001g0028 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.486+59735A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761567 | ||||||
| chr18:44761640
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.486+59808A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761640 | ||||||
| chr18:44761675
|
T | C | 11 | a0001c0001t0001g0005a0001c0001t0001g0091a0001c0001t0002g0102others(8): Show | 11 | HG01261.hp1 HG02040.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+59843T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761675 | ||||||
| chr18:44761811
|
T | C | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.486+59979T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761811 | ||||||
| chr18:44761955
|
G | A | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+60123G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44761955 | ||||||
| chr18:44762133
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0009g0077 | 2 | HG03225.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.486+60301A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44762133 | ||||||
| chr18:44762138
|
C | CT | 39 | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0030others(36): Show | 39 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.486+60318dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44762138 | |||||
| chr18:44762138
|
C | CTT | 41 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0029others(38): Show | 41 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.486+60317_486+6031 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44762138 | |||||
| chr18:44762374
|
C | T | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+60542C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44762374 | ||||||
| chr18:44762439
|
T | C | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+60607T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44762439 | ||||||
| chr18:44762568
|
A | G | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.486+60736A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44762568 | ||||||
| chr18:44762915
|
T | C | 1 | a0001c0001t0025g0042 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.486+61083T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44762915 | ||||||
| chr18:44763435
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.486+61603G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763435 | ||||||
| chr18:44763474
|
G | A | 1 | a0010c0017t0001g0041 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.486+61642G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763474 | ||||||
| chr18:44763571
|
A | T | 19 | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0030others(16): Show | 19 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(16): Show |
intron_variant | MODIFIER | c.486+61739A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763571 | ||||||
| chr18:44763635
|
C | T | 20 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(17): Show | 20 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+61803C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763635 | ||||||
| chr18:44763783
|
G | A | 2 | a0001c0001t0001g0091a0001c0001t0002g0102 | 2 | NA18981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.486+61951G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763783 | ||||||
| chr18:44763785
|
C | T | 11 | a0001c0001t0001g0005a0001c0001t0001g0091a0001c0001t0002g0102others(8): Show | 11 | HG01261.hp1 HG02040.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+61953C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763785 | ||||||
| chr18:44763844
|
C | A | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.486+62012C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763844 | ||||||
| chr18:44763940
|
C | G | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.486+62108C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763940 | ||||||
| chr18:44763949
|
T | A | 20 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(17): Show | 20 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+62117T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44763949 | ||||||
| chr18:44764066
|
A | C | 3 | a0001c0001t0001g0018a0001c0001t0001g0120a0011c0013t0021g0090 | 3 | HG00140.hp1 HG01255.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.486+62234A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764066 | ||||||
| chr18:44764176
|
G | A | 2 | a0001c0001t0010g0035a0001c0001t0012g0033 | 2 | HG02486.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.486+62344G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764176 | ||||||
| chr18:44764335
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+62503G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764335 | ||||||
| chr18:44764655
|
A | C | 3 | a0001c0001t0001g0117a0001c0001t0002g0118a0001c0001t0006g0056 | 3 | HG00741.hp1 HG01074.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.486+62823A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764655 | ||||||
| chr18:44764764
|
G | A | 20 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(17): Show | 20 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+62932G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764764 | ||||||
| chr18:44764840
|
T | C | 76 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(73): Show | 76 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(73): Show |
intron_variant | MODIFIER | c.486+63008T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44764840 | ||||||
| chr18:44765127
|
A | T | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+63295A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765127 | ||||||
| chr18:44765166
|
C | T | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+63334C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765166 | ||||||
| chr18:44765260
|
G | GA | 5 | a0001c0001t0001g0067a0001c0001t0001g0105a0001c0001t0024g0108others(2): Show | 5 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+63439dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44765260 | |||||
| chr18:44765324
|
G | A | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+63492G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765324 | ||||||
| chr18:44765327
|
T | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+63495T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765327 | ||||||
| chr18:44765593
|
G | A | 2 | a0001c0001t0001g0099a0001c0001t0010g0131 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.486+63761G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765593 | ||||||
| chr18:44765621
|
A | G | 14 | a0001c0001t0001g0016a0001c0001t0001g0098a0001c0001t0002g0039others(11): Show | 14 | HG00099.hp2 HG01071.hp1 HG01978.hp2 others(11): Show |
intron_variant | MODIFIER | c.486+63789A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765621 | ||||||
| chr18:44765780
|
G | A | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+63948G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765780 | ||||||
| chr18:44765960
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+64128G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44765960 | ||||||
| chr18:44766137
|
T | G | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.486+64305T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44766137 | ||||||
| chr18:44766527
|
G | T | 6 | a0001c0001t0001g0098a0004c0004t0001g0085a0004c0004t0002g0078others(3): Show | 6 | HG01978.hp2 HG02004.hp2 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.486+64695G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44766527 | ||||||
| chr18:44766939
|
G | A | 1 | a0001c0001t0001g0028 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.486+65107G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44766939 | ||||||
| chr18:44766975
|
A | T | 11 | a0001c0001t0001g0005a0001c0001t0001g0091a0001c0001t0002g0102others(8): Show | 11 | HG01261.hp1 HG02040.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+65143A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44766975 | ||||||
| chr18:44766991
|
T | C | 31 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0046others(28): Show | 31 | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.486+65159T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44766991 | ||||||
| chr18:44767211
|
G | A | 7 | a0001c0001t0001g0091a0001c0001t0002g0102a0001c0001t0002g0125others(4): Show | 7 | HG01261.hp1 HG02040.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.486+65379G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44767211 | ||||||
| chr18:44767224
|
G | A | 2 | a0002c0002t0001g0081a0002c0002t0014g0130 | 2 | HG02717.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.486+65392G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44767224 | ||||||
| chr18:44767620
|
G | A | 3 | a0001c0001t0001g0061a0001c0001t0001g0122a0001c0001t0003g0100 | 3 | HG02723.hp2 HG02886.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.486+65788G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44767620 | ||||||
| chr18:44767858
|
A | C | 2 | a0001c0001t0002g0010a0003c0003t0018g0011 | 2 | NA18964.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.486+66026A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44767858 | ||||||
| chr18:44768197
|
A | G | 4 | a0001c0001t0001g0005a0001c0001t0010g0035a0001c0001t0012g0033others(1): Show | 4 | HG02486.hp2 HG02976.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+66365A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44768197 | ||||||
| chr18:44769043
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+67211A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44769043 | ||||||
| chr18:44769617
|
C | T | 16 | a0001c0001t0001g0061a0001c0001t0001g0068a0001c0001t0001g0093others(13): Show | 16 | HG00741.hp1 HG01071.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.486+67785C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44769617 | ||||||
| chr18:44769699
|
A | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+67867A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44769699 | ||||||
| chr18:44769850
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+68018G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44769850 | ||||||
| chr18:44770461
|
A | G | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+68629A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44770461 | ||||||
| chr18:44770657
|
A | G | 5 | a0001c0001t0001g0055a0001c0001t0002g0094a0003c0003t0013g0103others(2): Show | 5 | HG00438.hp1 HG02083.hp1 HG02132.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+68825A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44770657 | ||||||
| chr18:44770821
|
TG | T | 76 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(73): Show | 76 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(73): Show |
intron_variant | MODIFIER | c.486+68991delG | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44770821 | |||||
| chr18:44770878
|
G | A | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+69046G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44770878 | ||||||
| chr18:44770928
|
G | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+69096G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44770928 | ||||||
| chr18:44771106
|
T | C | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+69274T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44771106 | ||||||
| chr18:44771169
|
G | T | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+69337G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44771169 | ||||||
| chr18:44771214
|
G | C | 21 | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0030others(18): Show | 21 | HG00140.hp2 HG00639.hp1 HG01070.hp1 others(18): Show |
intron_variant | MODIFIER | c.486+69382G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44771214 | ||||||
| chr18:44771464
|
C | G | 2 | a0001c0001t0002g0125a0004c0004t0001g0054 | 2 | HG02602.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.486+69632C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44771464 | ||||||
| chr18:44772391
|
A | G | 111 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.486+70559A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44772391 | ||||||
| chr18:44772416
|
G | A | 1 | a0001c0001t0001g0028 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.486+70584G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44772416 | ||||||
| chr18:44772488
|
C | T | 26 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0046others(23): Show | 26 | HG00438.hp2 HG01192.hp1 HG02040.hp2 others(23): Show |
intron_variant | MODIFIER | c.486+70656C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44772488 | ||||||
| chr18:44772769
|
C | T | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.486+70937C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44772769 | ||||||
| chr18:44773189
|
G | T | 1 | a0001c0001t0001g0098 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.486+71357G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44773189 | ||||||
| chr18:44773510
|
C | T | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.486+71678C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44773510 | ||||||
| chr18:44773641
|
T | G | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.486+71809T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44773641 | ||||||
| chr18:44773793
|
C | CCT | 20 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0055others(17): Show | 20 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+71990_486+7199 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773793 | |||||
| chr18:44773793
|
C | CCTCT | 4 | a0001c0001t0001g0044a0001c0001t0001g0067a0001c0001t0001g0105others(1): Show | 4 | HG01167.hp2 HG02615.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+71988_486+7199 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773793 | |||||
| chr18:44773793
|
CCT | C | 2 | a0001c0001t0001g0071a0002c0002t0001g0123 | 2 | HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.486+71990_486+7199 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773793 | |||||
| chr18:44773838
|
A | ATG | 3 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0105 | 3 | HG01167.hp2 HG02615.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.486+72038_486+7203 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTG | 3 | a0001c0001t0001g0044a0001c0001t0005g0138a0002c0002t0001g0123 | 3 | HG02717.hp2 NA19043.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.486+72036_486+7203 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(1): Show |
13 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(10): Show | 13 | HG00438.hp2 HG01192.hp1 HG02040.hp2 others(10): Show |
intron_variant | MODIFIER | c.486+72032_486+7203 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(3): Show |
19 | a0001c0001t0001g0034a0001c0001t0001g0065a0001c0001t0001g0099others(16): Show | 19 | HG00639.hp1 HG01175.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.486+72030_486+7203 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(5): Show |
10 | a0001c0001t0001g0005a0001c0001t0003g0037a0001c0001t0003g0057others(7): Show | 10 | HG01255.hp1 HG02004.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.486+72028_486+7203 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(7): Show |
24 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(21): Show | 24 | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.486+72026_486+7203 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(9): Show |
22 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(19): Show | 22 | HG00099.hp1 HG00140.hp2 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+72024_486+7203 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(11): Show |
10 | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0002g0010others(7): Show | 10 | HG00099.hp2 HG00639.hp2 HG01074.hp2 others(7): Show |
intron_variant | MODIFIER | c.486+72022_486+7203 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(13): Show |
4 | a0001c0005t0001g0112a0002c0002t0002g0045a0004c0004t0001g0024others(1): Show | 4 | HG01071.hp1 HG03486.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+72020_486+7203 others(24): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | ATGTGTGT others(15): Show |
1 | a0004c0004t0001g0085 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.486+72018_486+7203 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44773838
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.486+72006A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44773838 | ||||||
| chr18:44773838
|
ATGTGTG | A | 3 | a0001c0001t0001g0061a0001c0001t0001g0122a0001c0001t0003g0100 | 3 | HG02723.hp2 HG02886.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.486+72034_486+7203 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44773838 | |||||
| chr18:44774210
|
C | G | 91 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(88): Show |
intron_variant | MODIFIER | c.486+72378C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44774210 | ||||||
| chr18:44774680
|
A | C | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.486+72848A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44774680 | ||||||
| chr18:44774722
|
C | T | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+72890C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44774722 | ||||||
| chr18:44774903
|
G | GT | 5 | a0001c0001t0001g0065a0001c0001t0005g0087a0002c0002t0002g0045others(2): Show | 5 | HG00639.hp2 HG01167.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+73083dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44774903 | |||||
| chr18:44774903
|
GT | G | 17 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(14): Show | 17 | HG00438.hp2 HG01192.hp1 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.486+73083delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44774903 | |||||
| chr18:44774929
|
C | G | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+73097C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44774929 | ||||||
| chr18:44775383
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.486+73551G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44775383 | ||||||
| chr18:44775707
|
AT | A | 31 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0030others(28): Show | 31 | HG00438.hp2 HG01192.hp1 HG02040.hp2 others(28): Show |
intron_variant | MODIFIER | c.486+73890delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44775707 | |||||
| chr18:44775928
|
A | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.486+74096A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44775928 | ||||||
| chr18:44776250
|
G | A | 17 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0060others(14): Show | 17 | HG00438.hp2 HG01192.hp1 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.486+74418G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44776250 | ||||||
| chr18:44776779
|
CAT | C | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.486+74948_486+7494 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44776779 | ||||||
| chr18:44776818
|
A | G | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.486+74986A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44776818 | ||||||
| chr18:44776896
|
G | A | 2 | a0001c0001t0001g0017a0001c0001t0001g0040 | 2 | HG00140.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.486+75064G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44776896 | ||||||
| chr18:44777095
|
C | A | 30 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0001g0067others(27): Show | 30 | HG00741.hp1 HG01074.hp2 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.486+75263C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44777095 | ||||||
| chr18:44777356
|
A | G | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.486+75524A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44777356 | ||||||
| chr18:44777700
|
C | A | 19 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0046others(16): Show | 19 | HG00438.hp2 HG01192.hp1 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.486+75868C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44777700 | ||||||
| chr18:44778172
|
G | A | 70 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0028others(67): Show | 70 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.486+76340G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778172 | ||||||
| chr18:44778264
|
A | T | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.486+76432A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778264 | ||||||
| chr18:44778733
|
G | A | 11 | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0040others(8): Show | 11 | HG00140.hp2 HG00639.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+76901G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778733 | ||||||
| chr18:44778745
|
G | T | 3 | a0001c0001t0001g0067a0001c0001t0001g0105a0001c0009t0002g0133 | 3 | HG01167.hp2 HG02572.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.486+76913G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778745 | ||||||
| chr18:44778832
|
A | C | 94 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.486+77000A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778832 | ||||||
| chr18:44778928
|
TCGAGCTG | T | 94 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.486+77104_486+7711 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44778928 | |||||
| chr18:44778990
|
G | T | 20 | a0001c0001t0001g0061a0001c0001t0001g0067a0001c0001t0001g0068others(17): Show | 20 | HG00741.hp1 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.486+77158G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44778990 | ||||||
| chr18:44779039
|
G | A | 67 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0028others(64): Show | 67 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(64): Show |
intron_variant | MODIFIER | c.486+77207G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779039 | ||||||
| chr18:44779174
|
T | C | 2 | a0001c0001t0012g0033a0008c0011t0004g0124 | 2 | HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.486+77342T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779174 | ||||||
| chr18:44779291
|
G | A | 5 | a0001c0001t0002g0010a0001c0001t0003g0037a0001c0001t0003g0057others(2): Show | 5 | HG02165.hp1 HG02922.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+77459G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779291 | ||||||
| chr18:44779345
|
A | T | 94 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.486+77513A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779345 | ||||||
| chr18:44779365
|
T | C | 3 | a0001c0012t0003g0069a0003c0003t0001g0047a0003c0003t0002g0014 | 3 | HG01258.hp1 HG01496.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.486+77533T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779365 | ||||||
| chr18:44779389
|
C | T | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+77557C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779389 | ||||||
| chr18:44779474
|
G | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.486+77642G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779474 | ||||||
| chr18:44779539
|
G | C | 1 | a0001c0001t0001g0040 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.486+77707G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779539 | ||||||
| chr18:44779683
|
G | C | 2 | a0001c0001t0012g0033a0008c0011t0004g0124 | 2 | HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.486+77851G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779683 | ||||||
| chr18:44779873
|
T | C | 94 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.486+78041T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44779873 | ||||||
| chr18:44779911
|
AAC | A | 3 | a0001c0001t0002g0010a0002c0002t0001g0012a0003c0003t0018g0011 | 3 | HG02165.hp1 NA18964.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.486+78096_486+7809 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44779911 | |||||
| chr18:44780005
|
T | C | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.486+78173T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780005 | ||||||
| chr18:44780338
|
C | G | 24 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0032others(21): Show | 24 | HG00438.hp2 HG01192.hp1 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.486+78506C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780338 | ||||||
| chr18:44780381
|
C | G | 20 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0032others(17): Show | 20 | HG00438.hp2 HG01192.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+78549C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780381 | ||||||
| chr18:44780485
|
G | A | 1 | a0002c0002t0001g0012 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.486+78653G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780485 | ||||||
| chr18:44780562
|
G | A | 2 | a0001c0001t0001g0099a0001c0001t0010g0131 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.486+78730G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780562 | ||||||
| chr18:44780612
|
C | G | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+78780C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44780612 | ||||||
| chr18:44781238
|
T | G | 2 | a0001c0001t0012g0033a0008c0011t0004g0124 | 2 | HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.486+79406T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44781238 | ||||||
| chr18:44781427
|
G | T | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.486+79595G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44781427 | ||||||
| chr18:44781448
|
G | GCT | 3 | a0001c0001t0002g0010a0003c0003t0018g0011a0004c0004t0001g0024 | 3 | HG01071.hp1 NA18964.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.486+79639_486+7964 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44781448 | |||||
| chr18:44781448
|
G | GCTCTCT | 2 | a0001c0001t0001g0034a0001c0001t0003g0059 | 2 | HG02895.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.486+79635_486+7964 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44781448 | |||||
| chr18:44781458
|
T | TCC | 6 | a0001c0001t0001g0091a0001c0001t0002g0102a0001c0001t0002g0125others(3): Show | 6 | HG01261.hp1 HG02040.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+79627_486+7962 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44781458 | |||||
| chr18:44781507
|
C | A | 20 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0032others(17): Show | 20 | HG00438.hp2 HG01192.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+79675C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44781507 | ||||||
| chr18:44782004
|
C | T | 20 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0032others(17): Show | 20 | HG00438.hp2 HG01192.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.486+80172C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782004 | ||||||
| chr18:44782274
|
T | C | 1 | a0001c0005t0002g0031 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.486+80442T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782274 | ||||||
| chr18:44782312
|
CT | C | 93 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(90): Show |
intron_variant | MODIFIER | c.486+80492delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44782312 | |||||
| chr18:44782351
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.486+80519G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782351 | ||||||
| chr18:44782624
|
G | A | 47 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0028others(44): Show | 47 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(44): Show |
intron_variant | MODIFIER | c.486+80792G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782624 | ||||||
| chr18:44782770
|
A | G | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.486+80938A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782770 | ||||||
| chr18:44782834
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.486+81002C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782834 | ||||||
| chr18:44782864
|
A | G | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.486+81032A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782864 | ||||||
| chr18:44782919
|
A | G | 71 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0028others(68): Show | 71 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(68): Show |
intron_variant | MODIFIER | c.486+81087A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782919 | ||||||
| chr18:44782995
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.486+81163C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44782995 | ||||||
| chr18:44783029
|
A | G | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.486+81197A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44783029 | ||||||
| chr18:44783353
|
T | G | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.486+81521T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44783353 | ||||||
| chr18:44783865
|
G | A | 1 | a0002c0002t0001g0020 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.486+82033G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44783865 | ||||||
| chr18:44783927
|
T | C | 2 | a0001c0005t0001g0111a0003c0003t0008g0009 | 2 | HG00735.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.486+82095T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44783927 | ||||||
| chr18:44784371
|
A | G | 2 | a0001c0016t0001g0101a0003c0003t0017g0052 | 2 | HG02523.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.486+82539A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44784371 | ||||||
| chr18:44784739
|
C | A | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.486+82907C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44784739 | ||||||
| chr18:44785277
|
T | A | 64 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(61): Show | 64 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.486+83445T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44785277 | ||||||
| chr18:44785502
|
T | C | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.486+83670T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44785502 | ||||||
| chr18:44785604
|
A | C | 2 | a0001c0001t0012g0033a0008c0011t0004g0124 | 2 | HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.487-83626A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44785604 | ||||||
| chr18:44785666
|
C | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0122 | 3 | HG02486.hp1 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.487-83564C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44785666 | ||||||
| chr18:44785792
|
CTAGCTTC others(11): Show |
C | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.487-83436_487-8341 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44785792 | |||||
| chr18:44785932
|
G | A | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.487-83298G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44785932 | ||||||
| chr18:44786246
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-82984C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786246 | ||||||
| chr18:44786408
|
T | G | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.487-82822T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786408 | ||||||
| chr18:44786514
|
A | G | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-82716A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786514 | ||||||
| chr18:44786630
|
T | C | 18 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0046others(15): Show | 18 | HG01192.hp1 HG01261.hp2 HG02040.hp2 others(15): Show |
intron_variant | MODIFIER | c.487-82600T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786630 | ||||||
| chr18:44786683
|
C | T | 2 | a0001c0001t0015g0015a0002c0002t0006g0048 | 2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.487-82547C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786683 | ||||||
| chr18:44786792
|
G | T | 1 | a0001c0001t0002g0127 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.487-82438G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786792 | ||||||
| chr18:44786955
|
T | G | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.487-82275T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44786955 | ||||||
| chr18:44787104
|
G | T | 3 | a0001c0001t0001g0071a0001c0001t0005g0087a0012c0014t0001g0104 | 3 | HG02647.hp1 HG02896.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.487-82126G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787104 | ||||||
| chr18:44787273
|
A | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-81957A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787273 | ||||||
| chr18:44787581
|
G | A | 2 | a0001c0001t0012g0033a0008c0011t0004g0124 | 2 | HG02976.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.487-81649G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787581 | ||||||
| chr18:44787582
|
C | T | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-81648C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787582 | ||||||
| chr18:44787677
|
G | A | 137 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
intron_variant | MODIFIER | c.487-81553G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787677 | ||||||
| chr18:44787785
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-81445C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787785 | ||||||
| chr18:44787811
|
G | A | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.487-81419G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787811 | ||||||
| chr18:44787852
|
G | C | 69 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(66): Show | 69 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.487-81378G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44787852 | ||||||
| chr18:44787860
|
C | CA | 15 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0046others(12): Show | 15 | HG01192.hp1 HG01261.hp2 HG02080.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-81350dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(3): Show |
3 | a0001c0001t0001g0071a0001c0001t0012g0033a0012c0014t0001g0104 | 3 | HG02647.hp1 HG02976.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.487-81359_487-8135 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-81360_487-8135 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(5): Show |
1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.487-81361_487-8135 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(9): Show |
8 | a0001c0001t0001g0105a0001c0001t0002g0039a0001c0001t0003g0059others(5): Show | 8 | HG00099.hp2 HG00438.hp2 HG01496.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-81365_487-8135 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(10): Show |
23 | a0001c0001t0001g0021a0001c0001t0001g0028a0001c0001t0001g0049others(20): Show | 23 | HG00099.hp1 HG00639.hp2 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.487-81366_487-8135 others(21): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(11): Show |
22 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0032others(19): Show | 22 | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.487-81367_487-8135 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(12): Show |
25 | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0065others(22): Show | 25 | HG00741.hp1 HG01074.hp1 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.487-81368_487-8135 others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(13): Show |
19 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0055others(16): Show | 19 | HG00438.hp1 HG01934.hp1 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.487-81369_487-8135 others(24): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(14): Show |
3 | a0001c0001t0001g0018a0001c0010t0007g0113a0002c0002t0002g0043 | 3 | HG00140.hp1 HG01934.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.487-81350_487-8134 others(25): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(15): Show |
1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.487-81350_487-8134 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(16): Show |
1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.487-81350_487-8134 others(27): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(19): Show |
3 | a0001c0001t0002g0127a0001c0009t0002g0106a0003c0003t0008g0009 | 3 | HG00735.hp1 HG02723.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.487-81350_487-8134 others(30): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787860
|
C | CAAAAAAA others(22): Show |
1 | a0001c0005t0001g0111 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.487-81350_487-8134 others(33): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787860 | |||||
| chr18:44787871
|
AAAAAAAA others(3): Show |
A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-81354_487-8134 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44787871 | |||||
| chr18:44788002
|
G | GT | 6 | a0001c0001t0001g0097a0001c0001t0005g0087a0001c0001t0010g0131others(3): Show | 6 | HG00735.hp2 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-81216dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44788002 | |||||
| chr18:44788069
|
G | A | 18 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0046others(15): Show | 18 | HG01192.hp1 HG01261.hp2 HG02040.hp2 others(15): Show |
intron_variant | MODIFIER | c.487-81161G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788069 | ||||||
| chr18:44788154
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-81076C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788154 | ||||||
| chr18:44788258
|
A | G | 6 | a0001c0001t0001g0071a0001c0001t0005g0087a0001c0001t0012g0033others(3): Show | 6 | HG02647.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-80972A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788258 | ||||||
| chr18:44788548
|
G | A | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.487-80682G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788548 | ||||||
| chr18:44788584
|
C | A | 37 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0032others(34): Show | 37 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.487-80646C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788584 | ||||||
| chr18:44788604
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-80626C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788604 | ||||||
| chr18:44788690
|
G | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-80540G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788690 | ||||||
| chr18:44788788
|
TA | T | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-80440delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44788788 | |||||
| chr18:44788790
|
A | AT | 12 | a0001c0001t0001g0021a0001c0001t0001g0034a0001c0001t0001g0049others(9): Show | 12 | HG00099.hp1 HG01175.hp2 HG01978.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-80416dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44788790 | |||||
| chr18:44788790
|
AT | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(77): Show | 80 | HG00140.hp1 HG00735.hp1 HG00741.hp1 others(77): Show |
intron_variant | MODIFIER | c.487-80416delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44788790 | |||||
| chr18:44788797
|
T | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-80433T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788797 | ||||||
| chr18:44788804
|
T | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-80426T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788804 | ||||||
| chr18:44788943
|
C | T | 3 | a0003c0003t0001g0063a0003c0003t0001g0082a0003c0003t0001g0083 | 3 | HG01070.hp2 HG01071.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.487-80287C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44788943 | ||||||
| chr18:44789277
|
C | T | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-79953C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44789277 | ||||||
| chr18:44789474
|
A | G | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-79756A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44789474 | ||||||
| chr18:44790356
|
G | A | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-78874G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790356 | ||||||
| chr18:44790394
|
T | A | 24 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0021others(21): Show | 24 | HG00099.hp1 HG01070.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.487-78836T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790394 | ||||||
| chr18:44790530
|
T | C | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.487-78700T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790530 | ||||||
| chr18:44790560
|
A | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.487-78670A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790560 | ||||||
| chr18:44790692
|
G | T | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-78538G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790692 | ||||||
| chr18:44790842
|
C | CTTTG | 27 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-78387_487-7838 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44790842 | |||||
| chr18:44790847
|
G | C | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-78383G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790847 | ||||||
| chr18:44790918
|
G | A | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.487-78312G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44790918 | ||||||
| chr18:44791105
|
A | G | 112 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0016others(109): Show | 112 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.487-78125A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44791105 | ||||||
| chr18:44791291
|
A | G | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-77939A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44791291 | ||||||
| chr18:44791328
|
G | A | 3 | a0001c0001t0001g0018a0001c0001t0001g0120a0011c0013t0021g0090 | 3 | HG00140.hp1 HG01255.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.487-77902G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44791328 | ||||||
| chr18:44791720
|
C | CGA | 15 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(12): Show | 15 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-77490_487-7748 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44791720 | |||||
| chr18:44791858
|
C | T | 1 | a0001c0001t0015g0015 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.487-77372C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44791858 | ||||||
| chr18:44792181
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-77049A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44792181 | ||||||
| chr18:44792188
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-77042G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44792188 | ||||||
| chr18:44792517
|
T | C | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-76713T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44792517 | ||||||
| chr18:44792522
|
T | C | 27 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-76708T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44792522 | ||||||
| chr18:44792584
|
C | T | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.487-76646C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44792584 | ||||||
| chr18:44793102
|
A | G | 2 | a0001c0001t0012g0033a0001c0001t0024g0108 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.487-76128A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44793102 | ||||||
| chr18:44793192
|
G | A | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-76038G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44793192 | ||||||
| chr18:44793504
|
C | T | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.487-75726C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44793504 | ||||||
| chr18:44793709
|
C | T | 1 | a0001c0016t0001g0101 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.487-75521C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44793709 | ||||||
| chr18:44793826
|
A | C | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-75404A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44793826 | ||||||
| chr18:44794056
|
T | A | 1 | a0001c0001t0001g0088 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.487-75174T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794056 | ||||||
| chr18:44794266
|
G | GTTTGAAA others(4): Show |
27 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-74963_487-7496 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44794266 | |||||
| chr18:44794280
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.487-74950A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794280 | ||||||
| chr18:44794469
|
A | G | 4 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127others(1): Show | 4 | HG02630.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-74761A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794469 | ||||||
| chr18:44794501
|
G | A | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-74729G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794501 | ||||||
| chr18:44794579
|
T | A | 12 | a0001c0001t0001g0030a0001c0001t0001g0076a0001c0001t0001g0096others(9): Show | 12 | HG02055.hp1 HG02055.hp2 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-74651T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794579 | ||||||
| chr18:44794700
|
T | A | 1 | a0001c0001t0001g0008 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.487-74530T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794700 | ||||||
| chr18:44794835
|
G | T | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-74395G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44794835 | ||||||
| chr18:44795136
|
C | A | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-74094C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44795136 | ||||||
| chr18:44795480
|
A | G | 1 | a0001c0009t0002g0133 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.487-73750A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44795480 | ||||||
| chr18:44795544
|
T | G | 10 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0132others(7): Show | 10 | HG02055.hp1 HG02630.hp2 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-73686T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44795544 | ||||||
| chr18:44795613
|
A | C | 29 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(26): Show | 29 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.487-73617A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44795613 | ||||||
| chr18:44795766
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-73464G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44795766 | ||||||
| chr18:44796423
|
C | T | 1 | a0001c0001t0002g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.487-72807C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44796423 | ||||||
| chr18:44796718
|
A | G | 1 | a0004c0004t0001g0119 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.487-72512A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44796718 | ||||||
| chr18:44797436
|
C | T | 1 | a0001c0001t0002g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.487-71794C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44797436 | ||||||
| chr18:44797896
|
C | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-71334C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44797896 | ||||||
| chr18:44798077
|
G | A | 4 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0010t0007g0058others(1): Show | 4 | HG02055.hp1 HG02895.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-71153G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798077 | ||||||
| chr18:44798208
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.487-71022T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798208 | ||||||
| chr18:44798317
|
G | A | 27 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-70913G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798317 | ||||||
| chr18:44798321
|
G | A | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.487-70909G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798321 | ||||||
| chr18:44798889
|
G | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-70341G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798889 | ||||||
| chr18:44798898
|
A | G | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.487-70332A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798898 | ||||||
| chr18:44798999
|
G | A | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0001t0005g0138others(1): Show | 4 | HG02717.hp2 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-70231G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44798999 | ||||||
| chr18:44799068
|
C | A | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-70162C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799068 | ||||||
| chr18:44799108
|
T | C | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-70122T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799108 | ||||||
| chr18:44799217
|
G | A | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-70013G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799217 | ||||||
| chr18:44799458
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-69772C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799458 | ||||||
| chr18:44799493
|
G | A | 1 | a0002c0002t0001g0012 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.487-69737G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799493 | ||||||
| chr18:44799537
|
G | A | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.487-69693G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799537 | ||||||
| chr18:44799546
|
G | A | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-69684G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799546 | ||||||
| chr18:44799586
|
T | TGCTG | 10 | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0065others(7): Show | 10 | HG01167.hp2 HG01255.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-69644_487-6964 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799586 | ||||||
| chr18:44799587
|
A | T | 10 | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0065others(7): Show | 10 | HG01167.hp2 HG01255.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-69643A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799587 | ||||||
| chr18:44799751
|
G | T | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-69479G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44799751 | ||||||
| chr18:44800183
|
T | C | 28 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(25): Show | 28 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-69047T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800183 | ||||||
| chr18:44800454
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.487-68776G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800454 | ||||||
| chr18:44800460
|
G | T | 16 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0098others(13): Show | 16 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(13): Show |
intron_variant | MODIFIER | c.487-68770G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800460 | ||||||
| chr18:44800466
|
G | A | 1 | a0002c0002t0001g0136 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.487-68764G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800466 | ||||||
| chr18:44800627
|
G | A | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-68603G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800627 | ||||||
| chr18:44800662
|
G | A | 20 | a0001c0001t0001g0018a0001c0001t0001g0055a0001c0001t0001g0091others(17): Show | 20 | HG00140.hp1 HG00438.hp1 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.487-68568G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800662 | ||||||
| chr18:44800692
|
C | A | 28 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(25): Show | 28 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-68538C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800692 | ||||||
| chr18:44800700
|
T | A | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-68530T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800700 | ||||||
| chr18:44800831
|
G | A | 1 | a0001c0010t0007g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.487-68399G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800831 | ||||||
| chr18:44800853
|
C | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-68377C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800853 | ||||||
| chr18:44800921
|
C | T | 1 | a0001c0001t0025g0042 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.487-68309C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800921 | ||||||
| chr18:44800955
|
A | G | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-68275A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44800955 | ||||||
| chr18:44801120
|
G | T | 1 | a0002c0002t0001g0020 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.487-68110G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44801120 | ||||||
| chr18:44801214
|
G | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(11): Show | 14 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-68016G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44801214 | ||||||
| chr18:44801273
|
A | G | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.487-67957A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44801273 | ||||||
| chr18:44801599
|
T | C | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.487-67631T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44801599 | ||||||
| chr18:44801618
|
T | G | 8 | a0001c0001t0001g0055a0001c0001t0002g0094a0002c0002t0001g0012others(5): Show | 8 | HG00438.hp1 HG01934.hp2 HG02083.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-67612T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44801618 | ||||||
| chr18:44801839
|
CGTTGTG | C | 54 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0044others(51): Show | 54 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-67388_487-6738 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44801839 | |||||
| chr18:44802045
|
G | T | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.487-67185G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802045 | ||||||
| chr18:44802106
|
C | G | 1 | a0004c0015t0004g0036 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.487-67124C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802106 | ||||||
| chr18:44802171
|
G | C | 1 | a0001c0001t0001g0105 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.487-67059G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802171 | ||||||
| chr18:44802183
|
G | C | 58 | a0001c0001t0001g0018a0001c0001t0001g0032a0001c0001t0001g0040others(55): Show | 58 | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(55): Show |
intron_variant | MODIFIER | c.487-67047G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802183 | ||||||
| chr18:44802519
|
G | A | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.487-66711G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802519 | ||||||
| chr18:44802527
|
T | C | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.487-66703T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802527 | ||||||
| chr18:44802565
|
G | C | 137 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
intron_variant | MODIFIER | c.487-66665G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802565 | ||||||
| chr18:44802601
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-66629T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802601 | ||||||
| chr18:44802698
|
C | T | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-66532C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802698 | ||||||
| chr18:44802768
|
C | T | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-66462C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802768 | ||||||
| chr18:44802934
|
C | T | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.487-66296C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44802934 | ||||||
| chr18:44803040
|
G | A | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0001t0002g0125others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-66190G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803040 | ||||||
| chr18:44803101
|
T | C | 2 | a0002c0002t0001g0081a0002c0002t0014g0130 | 2 | HG02717.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.487-66129T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803101 | ||||||
| chr18:44803127
|
T | C | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.487-66103T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803127 | ||||||
| chr18:44803342
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-65888C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803342 | ||||||
| chr18:44803641
|
G | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-65589G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803641 | ||||||
| chr18:44803896
|
G | T | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-65334G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803896 | ||||||
| chr18:44803897
|
T | TTCATAA | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-65333_487-6533 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44803897 | ||||||
| chr18:44804153
|
A | G | 1 | a0001c0001t0002g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.487-65077A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804153 | ||||||
| chr18:44804476
|
T | C | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-64754T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804476 | ||||||
| chr18:44804558
|
C | A | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.487-64672C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804558 | ||||||
| chr18:44804632
|
T | G | 2 | a0002c0002t0005g0107a0008c0011t0004g0124 | 2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.487-64598T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804632 | ||||||
| chr18:44804836
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-64394C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804836 | ||||||
| chr18:44804858
|
G | C | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-64372G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804858 | ||||||
| chr18:44804972
|
G | A | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-64258G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804972 | ||||||
| chr18:44804979
|
G | A | 1 | a0008c0011t0004g0124 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.487-64251G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44804979 | ||||||
| chr18:44805016
|
C | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-64214C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805016 | ||||||
| chr18:44805162
|
T | C | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.487-64068T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805162 | ||||||
| chr18:44805405
|
A | AGT | 5 | a0001c0001t0001g0068a0001c0001t0002g0026a0003c0003t0013g0103others(2): Show | 5 | HG02647.hp1 HG03471.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-63797_487-6379 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44805405 | |||||
| chr18:44805405
|
AGT | A | 23 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(20): Show | 23 | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.487-63797_487-6379 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44805405 | |||||
| chr18:44805405
|
AGTGTGT | A | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-63801_487-6379 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44805405 | |||||
| chr18:44805405
|
AGTGTGTG others(1): Show |
A | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-63803_487-6379 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44805405 | |||||
| chr18:44805448
|
G | C | 4 | a0003c0003t0001g0063a0003c0003t0001g0082a0003c0003t0001g0083others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-63782G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805448 | ||||||
| chr18:44805452
|
A | T | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.487-63778A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805452 | ||||||
| chr18:44805563
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.487-63667C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805563 | ||||||
| chr18:44805649
|
T | C | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-63581T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805649 | ||||||
| chr18:44805757
|
G | A | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-63473G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805757 | ||||||
| chr18:44805904
|
T | C | 28 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(25): Show | 28 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-63326T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44805904 | ||||||
| chr18:44806091
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-63139A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44806091 | ||||||
| chr18:44806347
|
C | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0122 | 3 | HG02486.hp1 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.487-62883C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44806347 | ||||||
| chr18:44806588
|
T | C | 16 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0049others(13): Show | 16 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.487-62642T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44806588 | ||||||
| chr18:44806595
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.487-62635G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44806595 | ||||||
| chr18:44806623
|
C | CT | 24 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0040others(21): Show | 24 | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(21): Show |
intron_variant | MODIFIER | c.487-62566dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
C | CTT | 20 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0032others(17): Show | 20 | HG00140.hp2 HG01192.hp1 HG01978.hp2 others(17): Show |
intron_variant | MODIFIER | c.487-62567_487-6256 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
C | CTTTT | 6 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0002g0129others(3): Show | 6 | HG01175.hp2 HG02486.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-62569_487-6256 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CT | C | 18 | a0001c0001t0001g0008a0001c0001t0001g0055a0001c0001t0001g0091others(15): Show | 18 | HG00438.hp1 HG00639.hp1 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.487-62566delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(4): Show |
C | 3 | a0001c0001t0009g0027a0002c0002t0014g0130a0005c0006t0022g0089 | 3 | HG02809.hp1 HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.487-62576_487-6256 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(6): Show |
C | 5 | a0001c0001t0001g0028a0001c0001t0001g0076a0001c0001t0005g0138others(2): Show | 5 | HG01167.hp1 HG02055.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-62578_487-6256 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(7): Show |
C | 11 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0137others(8): Show | 11 | HG00639.hp2 HG01258.hp1 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.487-62579_487-6256 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(9): Show |
C | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113 | 3 | HG02055.hp1 HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.487-62581_487-6256 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(10): Show |
C | 2 | a0001c0001t0024g0108a0002c0002t0001g0123 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-62582_487-6256 others(21): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806623
|
CTTTTTTT others(15): Show |
C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-62587_487-6256 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806623 | |||||
| chr18:44806810
|
TACAGGCA others(35): Show |
T | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.487-62416_487-6237 others(46): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44806810 | |||||
| chr18:44806962
|
C | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0137 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.487-62268C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44806962 | ||||||
| chr18:44807005
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-62225C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807005 | ||||||
| chr18:44807013
|
G | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-62217G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807013 | ||||||
| chr18:44807017
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-62213A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807017 | ||||||
| chr18:44807029
|
G | A | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-62201G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807029 | ||||||
| chr18:44807053
|
A | C | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-62177A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807053 | ||||||
| chr18:44807103
|
T | C | 32 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0032others(29): Show | 32 | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.487-62127T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807103 | ||||||
| chr18:44807107
|
A | T | 5 | a0001c0001t0001g0005a0001c0001t0001g0076a0001c0001t0003g0037others(2): Show | 5 | HG02055.hp2 HG02717.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-62123A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807107 | ||||||
| chr18:44807119
|
G | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-62111G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807119 | ||||||
| chr18:44807208
|
C | A | 1 | a0001c0016t0001g0101 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.487-62022C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807208 | ||||||
| chr18:44807277
|
G | C | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-61953G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807277 | ||||||
| chr18:44807321
|
A | G | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-61909A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807321 | ||||||
| chr18:44807359
|
G | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-61871G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807359 | ||||||
| chr18:44807367
|
C | T | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-61863C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807367 | ||||||
| chr18:44807432
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-61798A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807432 | ||||||
| chr18:44807616
|
G | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-61614G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807616 | ||||||
| chr18:44807760
|
A | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-61470A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807760 | ||||||
| chr18:44807866
|
G | C | 4 | a0001c0001t0001g0097a0001c0001t0015g0015a0002c0002t0001g0020others(1): Show | 4 | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-61364G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807866 | ||||||
| chr18:44807980
|
G | A | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-61250G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44807980 | ||||||
| chr18:44808030
|
A | G | 2 | a0002c0002t0005g0107a0008c0011t0004g0124 | 2 | HG03486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.487-61200A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808030 | ||||||
| chr18:44808052
|
G | A | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.487-61178G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808052 | ||||||
| chr18:44808183
|
T | C | 4 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-61047T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808183 | ||||||
| chr18:44808184
|
C | T | 4 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0001t0003g0100others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-61046C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808184 | ||||||
| chr18:44808293
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-60937T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808293 | ||||||
| chr18:44808322
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-60908C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808322 | ||||||
| chr18:44808457
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-60773G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808457 | ||||||
| chr18:44808752
|
G | A | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-60478G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808752 | ||||||
| chr18:44808939
|
G | A | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.487-60291G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44808939 | ||||||
| chr18:44809041
|
G | A | 1 | a0002c0002t0001g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.487-60189G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44809041 | ||||||
| chr18:44809069
|
T | G | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0010t0007g0113 | 3 | HG02055.hp1 HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.487-60161T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44809069 | ||||||
| chr18:44809337
|
A | T | 1 | a0001c0001t0001g0030 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.487-59893A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44809337 | ||||||
| chr18:44809579
|
T | C | 2 | a0001c0001t0009g0027a0005c0006t0022g0089 | 2 | HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.487-59651T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44809579 | ||||||
| chr18:44809882
|
T | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-59348T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44809882 | ||||||
| chr18:44810010
|
A | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-59220A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44810010 | ||||||
| chr18:44810243
|
T | C | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-58987T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44810243 | ||||||
| chr18:44810379
|
C | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-58851C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44810379 | ||||||
| chr18:44810419
|
G | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0132a0002c0002t0001g0123 | 3 | HG02895.hp1 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.487-58811G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44810419 | ||||||
| chr18:44810619
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-58611C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44810619 | ||||||
| chr18:44811347
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-57883T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44811347 | ||||||
| chr18:44811712
|
C | G | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.487-57518C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44811712 | ||||||
| chr18:44811847
|
C | A | 6 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(3): Show | 6 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-57383C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44811847 | ||||||
| chr18:44811968
|
A | G | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.487-57262A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44811968 | ||||||
| chr18:44812045
|
C | T | 2 | a0001c0001t0001g0005a0002c0002t0001g0023 | 2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.487-57185C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44812045 | ||||||
| chr18:44812772
|
G | A | 1 | a0001c0001t0005g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.487-56458G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44812772 | ||||||
| chr18:44812923
|
T | G | 12 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-56307T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44812923 | ||||||
| chr18:44813077
|
A | G | 6 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(3): Show | 6 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-56153A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813077 | ||||||
| chr18:44813136
|
C | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-56094C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813136 | ||||||
| chr18:44813346
|
T | C | 8 | a0001c0001t0001g0030a0001c0001t0001g0122a0001c0001t0001g0137others(5): Show | 8 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-55884T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813346 | ||||||
| chr18:44813378
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-55852G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813378 | ||||||
| chr18:44813623
|
A | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-55607A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813623 | ||||||
| chr18:44813633
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.487-55597A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813633 | ||||||
| chr18:44813855
|
A | C | 30 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(27): Show | 30 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-55375A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813855 | ||||||
| chr18:44813881
|
T | A | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-55349T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44813881 | ||||||
| chr18:44814053
|
A | G | 13 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(10): Show | 13 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.487-55177A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44814053 | ||||||
| chr18:44814416
|
A | T | 30 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(27): Show | 30 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-54814A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44814416 | ||||||
| chr18:44814715
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0009g0027 | 3 | HG02895.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.487-54515G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44814715 | ||||||
| chr18:44814760
|
C | T | 2 | a0001c0001t0001g0122a0001c0001t0003g0037 | 2 | HG02922.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.487-54470C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44814760 | ||||||
| chr18:44814987
|
TATC | T | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-54240_487-5423 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44814987 | |||||
| chr18:44815000
|
T | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-54230T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815000 | ||||||
| chr18:44815375
|
G | T | 4 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127others(1): Show | 4 | HG02630.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-53855G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815375 | ||||||
| chr18:44815392
|
C | T | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-53838C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815392 | ||||||
| chr18:44815595
|
A | G | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.487-53635A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815595 | ||||||
| chr18:44815652
|
C | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-53578C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815652 | ||||||
| chr18:44815666
|
G | C | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.487-53564G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815666 | ||||||
| chr18:44815668
|
G | A | 3 | a0002c0002t0001g0123a0002c0002t0005g0107a0008c0011t0004g0124 | 3 | HG03486.hp1 NA19043.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.487-53562G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815668 | ||||||
| chr18:44815682
|
G | T | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-53548G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815682 | ||||||
| chr18:44815683
|
A | T | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-53547A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815683 | ||||||
| chr18:44815703
|
G | A | 5 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0004g0006others(2): Show | 5 | HG02647.hp2 HG02895.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-53527G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44815703 | ||||||
| chr18:44816003
|
C | T | 2 | a0003c0003t0013g0103a0005c0006t0001g0075 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.487-53227C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816003 | ||||||
| chr18:44816210
|
T | G | 6 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127others(3): Show | 6 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-53020T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816210 | ||||||
| chr18:44816254
|
T | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-52976T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816254 | ||||||
| chr18:44816271
|
A | G | 1 | a0001c0001t0025g0042 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.487-52959A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816271 | ||||||
| chr18:44816490
|
A | C | 6 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(3): Show | 6 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-52740A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816490 | ||||||
| chr18:44816802
|
A | T | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-52428A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816802 | ||||||
| chr18:44816950
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.487-52280C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44816950 | ||||||
| chr18:44817038
|
G | A | 1 | a0001c0001t0005g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.487-52192G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44817038 | ||||||
| chr18:44817417
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-51813G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44817417 | ||||||
| chr18:44817438
|
C | A | 1 | a0001c0001t0001g0076 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.487-51792C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44817438 | ||||||
| chr18:44817698
|
G | GA | 5 | a0001c0001t0001g0005a0001c0001t0001g0099a0001c0001t0010g0131others(2): Show | 5 | HG02809.hp1 HG03139.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-51521dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44817698 | |||||
| chr18:44817758
|
G | A | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.487-51472G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44817758 | ||||||
| chr18:44817802
|
G | A | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-51428G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44817802 | ||||||
| chr18:44818193
|
G | T | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-51037G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818193 | ||||||
| chr18:44818411
|
T | C | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.487-50819T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818411 | ||||||
| chr18:44818431
|
G | A | 6 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(3): Show | 6 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-50799G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818431 | ||||||
| chr18:44818569
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-50661A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818569 | ||||||
| chr18:44818633
|
G | T | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-50597G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818633 | ||||||
| chr18:44818671
|
A | G | 2 | a0002c0002t0001g0136a0002c0002t0002g0135 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.487-50559A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818671 | ||||||
| chr18:44818745
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-50485G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44818745 | ||||||
| chr18:44818749
|
ACACT | A | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-50477_487-5047 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818749 | |||||
| chr18:44818753
|
T | TCA | 13 | a0001c0001t0001g0093a0001c0001t0001g0117a0001c0001t0002g0118others(10): Show | 13 | HG00735.hp1 HG00741.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-50451_487-5045 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818753 | |||||
| chr18:44818753
|
T | TCACA | 3 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001 | 3 | HG02109.hp2 HG02886.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.487-50453_487-5045 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818753 | |||||
| chr18:44818753
|
TCA | T | 17 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0040others(14): Show | 17 | HG01167.hp2 HG01255.hp2 HG01978.hp1 others(14): Show |
intron_variant | MODIFIER | c.487-50451_487-5045 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818753 | |||||
| chr18:44818753
|
TCACA | T | 28 | a0001c0001t0001g0017a0001c0001t0001g0055a0001c0001t0001g0061others(25): Show | 28 | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-50453_487-5045 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818753 | |||||
| chr18:44818787
|
CCAT | C | 2 | a0001c0001t0001g0122a0001c0001t0003g0037 | 2 | HG02922.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.487-50439_487-5043 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818787 | |||||
| chr18:44818970
|
A | ATG | 69 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0017others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(66): Show |
intron_variant | MODIFIER | c.487-50238_487-5023 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818970 | |||||
| chr18:44818970
|
A | ATGTG | 11 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0076others(8): Show | 11 | HG01167.hp2 HG01261.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.487-50240_487-5023 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818970 | |||||
| chr18:44818970
|
A | ATGTGTG | 2 | a0001c0001t0001g0122a0001c0001t0003g0037 | 2 | HG02922.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.487-50242_487-5023 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44818970 | |||||
| chr18:44819012
|
A | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-50218A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44819012 | ||||||
| chr18:44819154
|
CTT | C | 27 | a0001c0001t0001g0034a0001c0001t0001g0055a0001c0001t0001g0068others(24): Show | 27 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.487-50075_487-5007 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44819154 | ||||||
| chr18:44819625
|
A | G | 30 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(27): Show | 30 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-49605A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44819625 | ||||||
| chr18:44819728
|
C | T | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-49502C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44819728 | ||||||
| chr18:44819751
|
A | G | 6 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(3): Show | 6 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-49479A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44819751 | ||||||
| chr18:44820172
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-49058C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820172 | ||||||
| chr18:44820278
|
A | G | 13 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(10): Show | 13 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.487-48952A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820278 | ||||||
| chr18:44820301
|
G | A | 4 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127others(1): Show | 4 | HG02630.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-48929G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820301 | ||||||
| chr18:44820344
|
A | C | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.487-48886A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820344 | ||||||
| chr18:44820379
|
A | G | 13 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(10): Show | 13 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.487-48851A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820379 | ||||||
| chr18:44820633
|
G | A | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.487-48597G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820633 | ||||||
| chr18:44820680
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-48550G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820680 | ||||||
| chr18:44820780
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-48450A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820780 | ||||||
| chr18:44820865
|
A | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-48365A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44820865 | ||||||
| chr18:44821108
|
T | C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-48122T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821108 | ||||||
| chr18:44821185
|
C | T | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.487-48045C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821185 | ||||||
| chr18:44821186
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.487-48044G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821186 | ||||||
| chr18:44821347
|
T | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-47883T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821347 | ||||||
| chr18:44821535
|
G | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-47695G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821535 | ||||||
| chr18:44821828
|
G | A | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.487-47402G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821828 | ||||||
| chr18:44821832
|
G | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-47398G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821832 | ||||||
| chr18:44821971
|
G | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.487-47259G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44821971 | ||||||
| chr18:44822008
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.487-47222C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44822008 | ||||||
| chr18:44822354
|
T | C | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.487-46876T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44822354 | ||||||
| chr18:44822861
|
G | A | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.487-46369G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44822861 | ||||||
| chr18:44822894
|
G | T | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-46336G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44822894 | ||||||
| chr18:44822903
|
G | C | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-46327G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44822903 | ||||||
| chr18:44823142
|
A | T | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0012t0003g0069others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-46088A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44823142 | ||||||
| chr18:44823175
|
T | A | 29 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(26): Show | 29 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-46055T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44823175 | ||||||
| chr18:44823579
|
C | T | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.487-45651C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44823579 | ||||||
| chr18:44824047
|
A | T | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-45183A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824047 | ||||||
| chr18:44824073
|
A | G | 12 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-45157A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824073 | ||||||
| chr18:44824378
|
G | A | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.487-44852G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824378 | ||||||
| chr18:44824580
|
C | G | 30 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(27): Show | 30 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-44650C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824580 | ||||||
| chr18:44824587
|
A | G | 10 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(7): Show | 10 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.487-44643A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824587 | ||||||
| chr18:44824607
|
T | G | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.487-44623T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824607 | ||||||
| chr18:44824832
|
T | C | 2 | a0003c0003t0013g0103a0005c0006t0001g0075 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.487-44398T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44824832 | ||||||
| chr18:44825030
|
T | G | 138 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-44200T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44825030 | ||||||
| chr18:44825145
|
G | A | 3 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001 | 3 | HG02109.hp2 HG02886.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.487-44085G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44825145 | ||||||
| chr18:44825775
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-43455C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44825775 | ||||||
| chr18:44826113
|
G | A | 20 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(17): Show | 20 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(17): Show |
intron_variant | MODIFIER | c.487-43117G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44826113 | ||||||
| chr18:44826475
|
T | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(7): Show | 10 | HG01167.hp2 HG02055.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-42755T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44826475 | ||||||
| chr18:44826520
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-42710C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44826520 | ||||||
| chr18:44827170
|
A | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-42060A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827170 | ||||||
| chr18:44827271
|
G | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-41959G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827271 | ||||||
| chr18:44827511
|
T | C | 22 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01175.hp2 others(19): Show |
intron_variant | MODIFIER | c.487-41719T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827511 | ||||||
| chr18:44827552
|
G | A | 2 | a0002c0002t0001g0136a0002c0002t0002g0135 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.487-41678G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827552 | ||||||
| chr18:44827750
|
A | C | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0003c0003t0001g0047others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-41480A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827750 | ||||||
| chr18:44827840
|
T | C | 138 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-41390T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44827840 | ||||||
| chr18:44828446
|
T | C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-40784T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44828446 | ||||||
| chr18:44828577
|
C | T | 4 | a0001c0001t0001g0097a0001c0001t0015g0015a0002c0002t0001g0020others(1): Show | 4 | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-40653C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44828577 | ||||||
| chr18:44828951
|
A | G | 5 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(2): Show | 5 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-40279A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44828951 | ||||||
| chr18:44829086
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-40144G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44829086 | ||||||
| chr18:44829215
|
T | TA | 3 | a0001c0001t0001g0018a0001c0005t0001g0111a0002c0002t0001g0121 | 3 | HG00140.hp1 HG01981.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.487-40012dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44829215 | |||||
| chr18:44829365
|
C | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-39865C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44829365 | ||||||
| chr18:44829686
|
T | C | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-39544T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44829686 | ||||||
| chr18:44829809
|
G | C | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-39421G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44829809 | ||||||
| chr18:44829914
|
T | C | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.487-39316T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44829914 | ||||||
| chr18:44830026
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-39204A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830026 | ||||||
| chr18:44830096
|
T | C | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.487-39134T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830096 | ||||||
| chr18:44830163
|
A | C | 5 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(2): Show | 5 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-39067A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830163 | ||||||
| chr18:44830239
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.487-38991C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830239 | ||||||
| chr18:44830273
|
G | A | 3 | a0001c0001t0003g0037a0007c0008t0002g0080a0007c0008t0002g0086 | 3 | HG01978.hp2 HG02004.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.487-38957G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830273 | ||||||
| chr18:44830296
|
G | T | 10 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(7): Show | 10 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-38934G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830296 | ||||||
| chr18:44830339
|
G | A | 10 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(7): Show | 10 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-38891G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830339 | ||||||
| chr18:44830339
|
G | T | 1 | a0001c0009t0002g0106 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.487-38891G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830339 | ||||||
| chr18:44830517
|
G | A | 5 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(2): Show | 5 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-38713G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830517 | ||||||
| chr18:44830577
|
G | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(7): Show | 10 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-38653G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830577 | ||||||
| chr18:44830677
|
G | A | 2 | a0001c0001t0001g0076a0002c0002t0001g0023 | 2 | HG02055.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-38553G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830677 | ||||||
| chr18:44830879
|
T | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-38351T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830879 | ||||||
| chr18:44830967
|
G | C | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.487-38263G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44830967 | ||||||
| chr18:44831107
|
A | C | 1 | a0001c0001t0002g0127 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.487-38123A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831107 | ||||||
| chr18:44831161
|
A | G | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-38069A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831161 | ||||||
| chr18:44831351
|
G | T | 1 | a0001c0001t0001g0018 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.487-37879G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831351 | ||||||
| chr18:44831540
|
A | G | 1 | a0001c0005t0002g0031 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.487-37690A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831540 | ||||||
| chr18:44831651
|
G | C | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.487-37579G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831651 | ||||||
| chr18:44831686
|
A | G | 9 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0001t0001g0088others(6): Show | 9 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-37544A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831686 | ||||||
| chr18:44831696
|
A | G | 12 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-37534A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831696 | ||||||
| chr18:44831838
|
G | C | 27 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.487-37392G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831838 | ||||||
| chr18:44831914
|
G | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-37316G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44831914 | ||||||
| chr18:44832215
|
A | G | 12 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-37015A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44832215 | ||||||
| chr18:44832273
|
A | G | 5 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(2): Show | 5 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-36957A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44832273 | ||||||
| chr18:44832319
|
C | A | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-36911C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44832319 | ||||||
| chr18:44832332
|
G | A | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.487-36898G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44832332 | ||||||
| chr18:44832344
|
A | G | 12 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-36886A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44832344 | ||||||
| chr18:44833075
|
C | T | 3 | a0002c0002t0001g0025a0002c0002t0001g0073a0002c0002t0001g0074 | 3 | HG02622.hp1 HG02922.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.487-36155C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833075 | ||||||
| chr18:44833208
|
T | C | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.487-36022T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833208 | ||||||
| chr18:44833366
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-35864C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833366 | ||||||
| chr18:44833703
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-35527G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833703 | ||||||
| chr18:44833801
|
A | T | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0003c0003t0001g0047others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-35429A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833801 | ||||||
| chr18:44833821
|
C | A | 1 | a0001c0001t0003g0100 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.487-35409C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833821 | ||||||
| chr18:44833979
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-35251C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44833979 | ||||||
| chr18:44834165
|
A | C | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.487-35065A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834165 | ||||||
| chr18:44834211
|
C | A | 6 | a0001c0001t0001g0030a0001c0001t0001g0137a0001c0001t0002g0127others(3): Show | 6 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-35019C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834211 | ||||||
| chr18:44834295
|
T | C | 12 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(9): Show | 12 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-34935T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834295 | ||||||
| chr18:44834455
|
G | A | 2 | a0001c0001t0001g0044a0001c0001t0002g0026 | 2 | HG03471.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.487-34775G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834455 | ||||||
| chr18:44834485
|
C | T | 5 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0002g0026others(2): Show | 5 | HG02717.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-34745C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834485 | ||||||
| chr18:44834649
|
C | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.487-34581C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834649 | ||||||
| chr18:44834873
|
G | A | 138 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-34357G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44834873 | ||||||
| chr18:44835000
|
G | A | 8 | a0001c0001t0001g0028a0001c0001t0001g0049a0003c0003t0001g0047others(5): Show | 8 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-34230G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835000 | ||||||
| chr18:44835125
|
A | G | 27 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.487-34105A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835125 | ||||||
| chr18:44835285
|
G | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-33945G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835285 | ||||||
| chr18:44835449
|
C | A | 1 | a0011c0013t0021g0090 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.487-33781C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835449 | ||||||
| chr18:44835484
|
A | G | 111 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(108): Show | 111 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(108): Show |
intron_variant | MODIFIER | c.487-33746A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835484 | ||||||
| chr18:44835659
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-33571G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835659 | ||||||
| chr18:44835662
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.487-33568C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44835662 | ||||||
| chr18:44836119
|
C | CT | 105 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(102): Show | 105 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.487-33099dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44836119 | |||||
| chr18:44836182
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.487-33048A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44836182 | ||||||
| chr18:44836275
|
G | T | 21 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(18): Show | 21 | HG00639.hp2 HG01167.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.487-32955G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44836275 | ||||||
| chr18:44836477
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-32753G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44836477 | ||||||
| chr18:44836484
|
C | T | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.487-32746C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44836484 | ||||||
| chr18:44836799
|
G | T | 1 | a0001c0001t0001g0017 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.487-32431G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44836799 | ||||||
| chr18:44837440
|
T | C | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.487-31790T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44837440 | ||||||
| chr18:44837478
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-31752G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44837478 | ||||||
| chr18:44837765
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-31465G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44837765 | ||||||
| chr18:44837882
|
A | G | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.487-31348A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44837882 | ||||||
| chr18:44837890
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.487-31340A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44837890 | ||||||
| chr18:44838166
|
T | G | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.487-31064T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44838166 | ||||||
| chr18:44838784
|
T | C | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-30446T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44838784 | ||||||
| chr18:44838833
|
G | GC | 27 | a0001c0001t0001g0028a0001c0001t0001g0046a0001c0001t0001g0049others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01175.hp2 others(24): Show |
intron_variant | MODIFIER | c.487-30393dupC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44838833 | |||||
| chr18:44839046
|
C | A | 1 | a0001c0001t0001g0008 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.487-30184C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839046 | ||||||
| chr18:44839073
|
TA | T | 58 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(55): Show | 58 | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.487-30143delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44839073 | |||||
| chr18:44839138
|
C | T | 19 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(16): Show | 19 | HG00741.hp1 HG01074.hp2 HG01175.hp2 others(16): Show |
intron_variant | MODIFIER | c.487-30092C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839138 | ||||||
| chr18:44839245
|
G | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-29985G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839245 | ||||||
| chr18:44839326
|
G | A | 12 | a0001c0001t0001g0028a0001c0005t0020g0072a0003c0003t0001g0047others(9): Show | 12 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-29904G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839326 | ||||||
| chr18:44839406
|
TTGC | T | 12 | a0001c0001t0001g0028a0001c0005t0020g0072a0003c0003t0001g0047others(9): Show | 12 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-29799_487-2979 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44839406 | |||||
| chr18:44839468
|
ATCTCCGG others(2): Show |
A | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-29757_487-2974 others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44839468 | |||||
| chr18:44839471
|
T | TC | 51 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.487-29757dupC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44839471 | |||||
| chr18:44839474
|
G | A | 51 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.487-29756G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839474 | ||||||
| chr18:44839534
|
A | G | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.487-29696A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839534 | ||||||
| chr18:44839610
|
A | T | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-29620A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839610 | ||||||
| chr18:44839735
|
C | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-29495C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839735 | ||||||
| chr18:44839958
|
G | A | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-29272G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44839958 | ||||||
| chr18:44840128
|
ATG | A | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-29098_487-2909 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44840128 | |||||
| chr18:44840159
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-29071C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44840159 | ||||||
| chr18:44840272
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.487-28958C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44840272 | ||||||
| chr18:44840580
|
T | A | 1 | a0005c0006t0001g0075 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.487-28650T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44840580 | ||||||
| chr18:44840928
|
C | T | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.487-28302C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44840928 | ||||||
| chr18:44841182
|
C | G | 1 | a0001c0001t0001g0120 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.487-28048C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841182 | ||||||
| chr18:44841262
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-27968G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841262 | ||||||
| chr18:44841294
|
G | A | 28 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0029others(25): Show | 28 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-27936G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841294 | ||||||
| chr18:44841413
|
C | G | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.487-27817C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841413 | ||||||
| chr18:44841503
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-27727G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841503 | ||||||
| chr18:44841740
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.487-27490C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841740 | ||||||
| chr18:44841909
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-27321G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841909 | ||||||
| chr18:44841944
|
C | T | 107 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(104): Show | 107 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(104): Show |
intron_variant | MODIFIER | c.487-27286C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44841944 | ||||||
| chr18:44842104
|
A | G | 78 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(75): Show | 78 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(75): Show |
intron_variant | MODIFIER | c.487-27126A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44842104 | ||||||
| chr18:44842191
|
G | A | 4 | a0001c0001t0001g0097a0001c0001t0015g0015a0002c0002t0001g0020others(1): Show | 4 | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-27039G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44842191 | ||||||
| chr18:44842259
|
A | T | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.487-26971A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44842259 | ||||||
| chr18:44842352
|
T | G | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.487-26878T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44842352 | ||||||
| chr18:44842946
|
G | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.487-26284G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44842946 | ||||||
| chr18:44843038
|
C | T | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-26192C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44843038 | ||||||
| chr18:44843197
|
G | T | 50 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(47): Show | 50 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.487-26033G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44843197 | ||||||
| chr18:44843696
|
T | C | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-25534T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44843696 | ||||||
| chr18:44843734
|
G | A | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.487-25496G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44843734 | ||||||
| chr18:44844118
|
C | T | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.487-25112C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844118 | ||||||
| chr18:44844347
|
A | ACG | 51 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.487-24877_487-2487 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44844347 | |||||
| chr18:44844347
|
ACG | A | 13 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(10): Show | 13 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-24877_487-2487 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44844347 | |||||
| chr18:44844353
|
GCA | G | 42 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(39): Show | 42 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(39): Show |
intron_variant | MODIFIER | c.487-24859_487-2485 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44844353 | |||||
| chr18:44844355
|
A | G | 2 | a0001c0001t0002g0129a0001c0001t0003g0001 | 2 | HG02109.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.487-24875A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844355 | ||||||
| chr18:44844629
|
C | T | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-24601C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844629 | ||||||
| chr18:44844663
|
C | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-24567C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844663 | ||||||
| chr18:44844672
|
A | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-24558A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844672 | ||||||
| chr18:44844757
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-24473G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44844757 | ||||||
| chr18:44845092
|
T | C | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-24138T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845092 | ||||||
| chr18:44845285
|
C | T | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.487-23945C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845285 | ||||||
| chr18:44845286
|
T | C | 1 | a0001c0001t0002g0127 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.487-23944T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845286 | ||||||
| chr18:44845361
|
G | A | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.487-23869G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845361 | ||||||
| chr18:44845363
|
A | C | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-23867A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845363 | ||||||
| chr18:44845447
|
C | G | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-23783C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845447 | ||||||
| chr18:44845865
|
T | G | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.487-23365T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845865 | ||||||
| chr18:44845918
|
G | T | 48 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.487-23312G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44845918 | ||||||
| chr18:44846259
|
G | T | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-22971G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44846259 | ||||||
| chr18:44846336
|
T | C | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.487-22894T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44846336 | ||||||
| chr18:44846493
|
A | G | 2 | a0001c0001t0001g0134a0002c0002t0004g0095 | 2 | HG03471.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.487-22737A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44846493 | ||||||
| chr18:44846842
|
A | C | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.487-22388A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44846842 | ||||||
| chr18:44846996
|
C | T | 26 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(23): Show | 26 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.487-22234C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44846996 | ||||||
| chr18:44847136
|
G | A | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-22094G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44847136 | ||||||
| chr18:44847576
|
G | A | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-21654G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44847576 | ||||||
| chr18:44847632
|
T | C | 50 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(47): Show | 50 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.487-21598T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44847632 | ||||||
| chr18:44848072
|
G | GGT | 23 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0096others(20): Show | 23 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(20): Show |
intron_variant | MODIFIER | c.487-21127_487-2112 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44848072 | |||||
| chr18:44848072
|
G | GGTGT | 10 | a0001c0001t0001g0126a0001c0001t0001g0134a0001c0001t0002g0129others(7): Show | 10 | HG02109.hp2 HG02886.hp2 HG02896.hp2 others(7): Show |
intron_variant | MODIFIER | c.487-21129_487-2112 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44848072 | |||||
| chr18:44848072
|
GGTGT | G | 5 | a0001c0001t0001g0005a0001c0001t0001g0068a0001c0010t0007g0113others(2): Show | 5 | HG01175.hp2 HG02055.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-21129_487-2112 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44848072 | |||||
| chr18:44848072
|
GGTGTGT | G | 46 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(43): Show | 46 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.487-21131_487-2112 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44848072 | |||||
| chr18:44848072
|
GGTGTGTG others(1): Show |
G | 2 | a0001c0001t0002g0125a0002c0002t0002g0043 | 2 | HG01934.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.487-21133_487-2112 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44848072 | |||||
| chr18:44848690
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-20540G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44848690 | ||||||
| chr18:44848759
|
G | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.487-20471G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44848759 | ||||||
| chr18:44849126
|
G | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.487-20104G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44849126 | ||||||
| chr18:44849135
|
C | G | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.487-20095C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44849135 | ||||||
| chr18:44849457
|
A | C | 6 | a0001c0001t0001g0065a0001c0001t0001g0068a0001c0001t0001g0120others(3): Show | 6 | HG01070.hp2 HG01071.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-19773A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44849457 | ||||||
| chr18:44849591
|
C | T | 5 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0004g0006others(2): Show | 5 | HG02647.hp2 HG02895.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-19639C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44849591 | ||||||
| chr18:44849645
|
G | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.487-19585G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44849645 | ||||||
| chr18:44849669
|
T | TGA | 27 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(24): Show | 27 | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.487-19537_487-1953 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44849669 | |||||
| chr18:44849669
|
TGA | T | 102 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(99): Show | 102 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(99): Show |
intron_variant | MODIFIER | c.487-19537_487-1953 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44849669 | |||||
| chr18:44850379
|
CT | C | 30 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(27): Show | 30 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-18842delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44850379 | |||||
| chr18:44850502
|
C | G | 46 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(43): Show | 46 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.487-18728C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44850502 | ||||||
| chr18:44850765
|
T | G | 1 | a0002c0002t0001g0074 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.487-18465T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44850765 | ||||||
| chr18:44851279
|
G | A | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-17951G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851279 | ||||||
| chr18:44851376
|
G | T | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.487-17854G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851376 | ||||||
| chr18:44851620
|
C | G | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-17610C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851620 | ||||||
| chr18:44851783
|
A | G | 2 | a0001c0001t0005g0087a0005c0006t0003g0022 | 2 | HG02896.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.487-17447A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851783 | ||||||
| chr18:44851946
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-17284T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851946 | ||||||
| chr18:44851994
|
C | T | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.487-17236C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44851994 | ||||||
| chr18:44852107
|
C | T | 1 | a0001c0001t0015g0015 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.487-17123C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44852107 | ||||||
| chr18:44852188
|
G | A | 6 | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0091others(3): Show | 6 | HG00438.hp1 HG02080.hp2 HG02083.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-17042G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44852188 | ||||||
| chr18:44852498
|
C | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-16732C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44852498 | ||||||
| chr18:44852778
|
T | C | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-16452T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44852778 | ||||||
| chr18:44853420
|
G | A | 3 | a0001c0001t0001g0093a0001c0001t0002g0066a0001c0005t0002g0115 | 3 | HG01175.hp1 HG01981.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.487-15810G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44853420 | ||||||
| chr18:44853743
|
C | A | 1 | a0005c0006t0003g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.487-15487C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44853743 | ||||||
| chr18:44853860
|
A | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-15370A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44853860 | ||||||
| chr18:44853915
|
G | A | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.487-15315G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44853915 | ||||||
| chr18:44854110
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-15120C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854110 | ||||||
| chr18:44854562
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-14668C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854562 | ||||||
| chr18:44854650
|
G | A | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-14580G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854650 | ||||||
| chr18:44854758
|
T | C | 3 | a0001c0001t0001g0049a0001c0001t0025g0042a0010c0017t0001g0041 | 3 | HG02080.hp1 NA18953.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.487-14472T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854758 | ||||||
| chr18:44854861
|
C | T | 2 | a0001c0001t0002g0127a0001c0009t0002g0106 | 2 | HG02723.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.487-14369C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854861 | ||||||
| chr18:44854926
|
G | A | 2 | a0001c0001t0015g0015a0002c0002t0006g0048 | 2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.487-14304G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44854926 | ||||||
| chr18:44855198
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-14032C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855198 | ||||||
| chr18:44855199
|
G | A | 47 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(44): Show | 47 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.487-14031G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855199 | ||||||
| chr18:44855261
|
T | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(44): Show | 47 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.487-13969T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855261 | ||||||
| chr18:44855405
|
A | C | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.487-13825A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855405 | ||||||
| chr18:44855528
|
C | T | 1 | a0002c0002t0001g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.487-13702C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855528 | ||||||
| chr18:44855751
|
A | C | 3 | a0001c0001t0001g0093a0001c0001t0002g0066a0001c0005t0002g0115 | 3 | HG01175.hp1 HG01981.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.487-13479A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855751 | ||||||
| chr18:44855894
|
C | T | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.487-13336C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44855894 | ||||||
| chr18:44856008
|
A | C | 30 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(27): Show | 30 | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-13222A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856008 | ||||||
| chr18:44856055
|
G | GT | 28 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(25): Show | 28 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.487-13161dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44856055 | |||||
| chr18:44856687
|
C | T | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-12543C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856687 | ||||||
| chr18:44856723
|
A | G | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.487-12507A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856723 | ||||||
| chr18:44856829
|
G | A | 11 | a0001c0001t0001g0028a0001c0005t0020g0072a0003c0003t0001g0109others(8): Show | 11 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.487-12401G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856829 | ||||||
| chr18:44856877
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-12353G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856877 | ||||||
| chr18:44856910
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.487-12320G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44856910 | ||||||
| chr18:44857303
|
G | A | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-11927G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44857303 | ||||||
| chr18:44857349
|
A | T | 50 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(47): Show | 50 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.487-11881A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44857349 | ||||||
| chr18:44857452
|
T | C | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.487-11778T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44857452 | ||||||
| chr18:44857533
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-11697C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44857533 | ||||||
| chr18:44857554
|
C | CA | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-11676_487-1167 others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44857554 | ||||||
| chr18:44858098
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.487-11132T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44858098 | ||||||
| chr18:44858423
|
C | A | 6 | a0002c0002t0001g0123a0002c0002t0001g0136a0002c0002t0002g0135others(3): Show | 6 | HG01070.hp1 HG01074.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-10807C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44858423 | ||||||
| chr18:44858597
|
T | G | 27 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(24): Show | 27 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-10633T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44858597 | ||||||
| chr18:44858952
|
T | C | 27 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(24): Show | 27 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.487-10278T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44858952 | ||||||
| chr18:44859114
|
G | A | 110 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(107): Show | 110 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
intron_variant | MODIFIER | c.487-10116G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859114 | ||||||
| chr18:44859417
|
C | G | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.487-9813C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859417 | ||||||
| chr18:44859509
|
T | A | 1 | a0001c0005t0002g0031 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.487-9721T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859509 | ||||||
| chr18:44859722
|
C | T | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.487-9508C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859722 | ||||||
| chr18:44859769
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-9461T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859769 | ||||||
| chr18:44859921
|
C | T | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-9309C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44859921 | ||||||
| chr18:44860024
|
T | C | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-9206T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860024 | ||||||
| chr18:44860264
|
C | T | 53 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(50): Show | 53 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.487-8966C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860264 | ||||||
| chr18:44860326
|
G | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-8904G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860326 | ||||||
| chr18:44860358
|
C | A | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.487-8872C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860358 | ||||||
| chr18:44860573
|
T | C | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.487-8657T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860573 | ||||||
| chr18:44860589
|
A | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-8641A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860589 | ||||||
| chr18:44860602
|
C | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-8628C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860602 | ||||||
| chr18:44860674
|
G | C | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-8556G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860674 | ||||||
| chr18:44860747
|
C | CA | 51 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0021others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.487-8469dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44860747 | |||||
| chr18:44860826
|
C | T | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.487-8404C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860826 | ||||||
| chr18:44860877
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-8353C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44860877 | ||||||
| chr18:44861223
|
T | A | 29 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(26): Show | 29 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.487-8007T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861223 | ||||||
| chr18:44861229
|
C | CT | 5 | a0001c0001t0025g0042a0002c0002t0004g0095a0004c0004t0001g0024others(2): Show | 5 | HG01071.hp1 HG01978.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-7974dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44861229 | |||||
| chr18:44861229
|
CT | C | 12 | a0001c0001t0001g0005a0001c0001t0001g0034a0001c0001t0001g0046others(9): Show | 12 | HG01934.hp2 HG02083.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-7974delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44861229 | |||||
| chr18:44861229
|
CTT | C | 40 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(37): Show | 40 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(37): Show |
intron_variant | MODIFIER | c.487-7975_487-7974d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44861229 | |||||
| chr18:44861229
|
CTTTTTTT others(1): Show |
C | 29 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(26): Show | 29 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.487-7981_487-7974d others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44861229 | |||||
| chr18:44861229
|
CTTTTTTT others(6): Show |
C | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-7986_487-7974d others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44861229 | |||||
| chr18:44861236
|
T | C | 1 | a0001c0005t0001g0111 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.487-7994T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861236 | ||||||
| chr18:44861308
|
G | A | 2 | a0001c0001t0001g0002a0004c0004t0001g0054 | 2 | HG02572.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.487-7922G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861308 | ||||||
| chr18:44861464
|
C | G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-7766C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861464 | ||||||
| chr18:44861478
|
C | T | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-7752C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861478 | ||||||
| chr18:44861817
|
T | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0060others(2): Show | 5 | HG01192.hp1 HG01496.hp1 HG02004.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-7413T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861817 | ||||||
| chr18:44861951
|
C | T | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.487-7279C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44861951 | ||||||
| chr18:44862120
|
G | C | 4 | a0001c0001t0002g0125a0002c0002t0002g0043a0003c0003t0001g0082others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-7110G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44862120 | ||||||
| chr18:44862174
|
C | T | 114 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(111): Show | 114 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
intron_variant | MODIFIER | c.487-7056C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44862174 | ||||||
| chr18:44862508
|
C | T | 2 | a0007c0008t0002g0080a0007c0008t0002g0086 | 2 | HG01978.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.487-6722C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44862508 | ||||||
| chr18:44862831
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-6399T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44862831 | ||||||
| chr18:44862861
|
G | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.487-6369G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44862861 | ||||||
| chr18:44863039
|
G | A | 4 | a0001c0001t0001g0097a0001c0001t0015g0015a0002c0002t0001g0020others(1): Show | 4 | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-6191G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863039 | ||||||
| chr18:44863218
|
C | T | 3 | a0002c0002t0001g0123a0002c0002t0005g0107a0008c0011t0004g0124 | 3 | HG03486.hp1 NA19043.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.487-6012C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863218 | ||||||
| chr18:44863247
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-5983C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863247 | ||||||
| chr18:44863449
|
G | A | 1 | a0001c0001t0002g0102 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.487-5781G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863449 | ||||||
| chr18:44863551
|
A | G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-5679A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863551 | ||||||
| chr18:44863673
|
C | G | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.487-5557C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863673 | ||||||
| chr18:44863678
|
C | A | 23 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(20): Show | 23 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.487-5552C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863678 | ||||||
| chr18:44863691
|
C | G | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-5539C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863691 | ||||||
| chr18:44863729
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-5501G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863729 | ||||||
| chr18:44863783
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-5447C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863783 | ||||||
| chr18:44863813
|
C | T | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-5417C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863813 | ||||||
| chr18:44863838
|
A | T | 4 | a0001c0001t0001g0088a0001c0001t0001g0117a0001c0001t0002g0118others(1): Show | 4 | HG00741.hp1 HG01074.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-5392A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44863838 | ||||||
| chr18:44864276
|
G | A | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-4954G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864276 | ||||||
| chr18:44864417
|
T | C | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.487-4813T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864417 | ||||||
| chr18:44864508
|
C | A | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-4722C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864508 | ||||||
| chr18:44864573
|
A | G | 116 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(113): Show | 116 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
intron_variant | MODIFIER | c.487-4657A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864573 | ||||||
| chr18:44864627
|
C | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.487-4603C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864627 | ||||||
| chr18:44864724
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-4506G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864724 | ||||||
| chr18:44864866
|
A | G | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.487-4364A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864866 | ||||||
| chr18:44864960
|
C | T | 6 | a0002c0002t0001g0123a0002c0002t0001g0136a0002c0002t0002g0135others(3): Show | 6 | HG01070.hp1 HG01074.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-4270C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44864960 | ||||||
| chr18:44865011
|
G | T | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.487-4219G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865011 | ||||||
| chr18:44865056
|
G | A | 2 | a0001c0001t0001g0134a0002c0002t0004g0095 | 2 | HG03471.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.487-4174G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865056 | ||||||
| chr18:44865085
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.487-4145G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865085 | ||||||
| chr18:44865152
|
C | T | 2 | a0001c0001t0002g0127a0001c0009t0002g0106 | 2 | HG02723.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.487-4078C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865152 | ||||||
| chr18:44865289
|
G | A | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.487-3941G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865289 | ||||||
| chr18:44865446
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-3784G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865446 | ||||||
| chr18:44865511
|
T | C | 16 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(13): Show | 16 | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.487-3719T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865511 | ||||||
| chr18:44865542
|
G | C | 53 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(50): Show | 53 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.487-3688G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865542 | ||||||
| chr18:44865761
|
AG | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.487-3464delG | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44865761 | |||||
| chr18:44865918
|
C | A | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.487-3312C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44865918 | ||||||
| chr18:44866080
|
C | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-3150C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866080 | ||||||
| chr18:44866171
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.487-3059C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866171 | ||||||
| chr18:44866482
|
A | G | 116 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(113): Show | 116 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
intron_variant | MODIFIER | c.487-2748A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866482 | ||||||
| chr18:44866653
|
G | T | 13 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(10): Show | 13 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-2577G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866653 | ||||||
| chr18:44866718
|
G | A | 2 | a0001c0001t0001g0013a0001c0012t0003g0069 | 2 | HG01192.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.487-2512G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866718 | ||||||
| chr18:44866745
|
G | A | 1 | a0001c0001t0005g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.487-2485G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866745 | ||||||
| chr18:44866857
|
A | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.487-2373A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44866857 | ||||||
| chr18:44867387
|
T | C | 4 | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-1843T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44867387 | ||||||
| chr18:44867567
|
A | T | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.487-1663A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44867567 | ||||||
| chr18:44868067
|
A | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-1163A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868067 | ||||||
| chr18:44868383
|
T | G | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-847T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868383 | ||||||
| chr18:44868508
|
A | C | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.487-722A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868508 | ||||||
| chr18:44868585
|
C | T | 1 | a0001c0005t0001g0111 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.487-645C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868585 | ||||||
| chr18:44868667
|
C | CGA | 6 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0060others(3): Show | 6 | HG01192.hp1 HG01496.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-533_487-532dup others(2): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868667 | |||||
| chr18:44868667
|
CGA | C | 12 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(9): Show | 12 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-533_487-532del others(2): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868667 | |||||
| chr18:44868667
|
CGAGAGA | C | 5 | a0001c0001t0001g0096a0001c0005t0020g0072a0003c0003t0001g0047others(2): Show | 5 | HG01258.hp1 HG02004.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-537_487-532del others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868667 | |||||
| chr18:44868689
|
AGAGAGAG others(15): Show |
A | 10 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0068others(7): Show | 10 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(7): Show |
intron_variant | MODIFIER | c.487-537_487-516del others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868689 | |||||
| chr18:44868691
|
AGAGAGAG others(13): Show |
A | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.487-535_487-516del others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868691 | |||||
| chr18:44868692
|
GAGAGAGG others(41): Show |
G | 1 | a0001c0001t0009g0027 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.487-535_487-488del others(48): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868692 | |||||
| chr18:44868693
|
AGAGAGGA others(11): Show |
A | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.487-533_487-516del others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868693 | |||||
| chr18:44868694
|
GAGAGGAC others(19): Show |
G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.487-533_487-508del others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868694 | |||||
| chr18:44868696
|
GAGGACGG others(5): Show |
G | 3 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001 | 3 | HG02109.hp2 HG02886.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.487-530_487-519del others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868696 | |||||
| chr18:44868697
|
AGGACGGA others(7): Show |
A | 5 | a0001c0001t0001g0021a0001c0001t0002g0125a0001c0001t0024g0108others(2): Show | 5 | HG00099.hp1 HG02165.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-531_487-518del others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868697 | |||||
| chr18:44868698
|
GGACGGA | G | 13 | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0088others(10): Show | 13 | HG01074.hp2 HG01175.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.487-531_487-526del others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868698 | ||||||
| chr18:44868698
|
GGACGGAA others(3): Show |
G | 9 | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0140others(6): Show | 9 | HG00741.hp1 HG01261.hp2 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-531_487-522del others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868698 | ||||||
| chr18:44868698
|
GGACGGAA others(11): Show |
G | 14 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(11): Show | 14 | HG00140.hp1 HG00438.hp1 HG02080.hp2 others(11): Show |
intron_variant | MODIFIER | c.487-531_487-514del others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868698 | ||||||
| chr18:44868698
|
GGACGGAA others(19): Show |
G | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.487-531_487-506del others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868698 | ||||||
| chr18:44868698
|
GGACGGAA others(31): Show |
G | 1 | a0001c0001t0004g0006 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.487-531_487-494del others(38): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868698 | ||||||
| chr18:44868701
|
CGGAAGGA others(5): Show |
C | 12 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0044others(9): Show | 12 | HG01167.hp2 HG01258.hp1 HG02004.hp1 others(9): Show |
intron_variant | MODIFIER | c.487-518_487-507del others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868701
|
CGGAAGGA others(13): Show |
C | 1 | a0004c0004t0001g0054 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.487-518_487-499del others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868701
|
CGGAAGGA others(17): Show |
C | 13 | a0001c0001t0001g0040a0001c0001t0005g0087a0001c0005t0002g0031others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.487-518_487-495del others(24): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868701
|
CGGAAGGA others(21): Show |
C | 8 | a0001c0001t0001g0071a0001c0001t0002g0102a0001c0001t0002g0127others(5): Show | 8 | HG02486.hp2 HG02723.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.487-518_487-491del others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868701
|
CGGAAGGA others(25): Show |
C | 2 | a0002c0002t0001g0073a0002c0002t0001g0074 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.487-518_487-487del others(32): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868701
|
CGGAAGGA others(37): Show |
C | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.487-518_487-475del others(44): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868701 | |||||
| chr18:44868704
|
AAGGAAGG others(1): Show |
A | 3 | a0001c0001t0001g0061a0001c0001t0002g0026a0001c0009t0002g0133 | 3 | HG02572.hp1 HG02723.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.487-518_487-511del others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868704 | |||||
| chr18:44868708
|
AAGGG | A | 2 | a0001c0001t0001g0137a0001c0001t0005g0138 | 2 | HG02630.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.487-518_487-515del others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868708 | |||||
| chr18:44868709
|
A | C | 12 | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0088others(9): Show | 12 | HG01074.hp2 HG01175.hp1 HG01258.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-521A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868709 | ||||||
| chr18:44868711
|
G | A | 6 | a0001c0001t0001g0126a0001c0001t0002g0010a0001c0001t0002g0129others(3): Show | 6 | HG02109.hp2 HG02886.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-519G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868711 | ||||||
| chr18:44868712
|
G | A | 21 | a0001c0001t0001g0030a0001c0001t0001g0046a0001c0001t0001g0049others(18): Show | 21 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.487-518G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868712 | ||||||
| chr18:44868712
|
GAGGA | G | 7 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0060others(4): Show | 7 | HG01192.hp1 HG01496.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.487-460_487-457del others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | 44868712 | |||||
| chr18:44868713
|
A | C | 7 | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0140others(4): Show | 7 | HG00741.hp1 HG01261.hp2 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.487-517A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868713 | ||||||
| chr18:44868714
|
GGA | G | 6 | a0001c0001t0001g0021a0001c0001t0002g0010a0001c0001t0002g0125others(3): Show | 6 | HG00099.hp1 HG02165.hp1 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-515_487-514del others(2): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868714 | ||||||
| chr18:44868714
|
GGAAGGAA others(3): Show |
G | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.487-515_487-506del others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868714 | ||||||
| chr18:44868715
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-515G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868715 | ||||||
| chr18:44868716
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-514A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868716 | ||||||
| chr18:44868717
|
A | C | 15 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0068others(12): Show | 15 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-513A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868717 | ||||||
| chr18:44868718
|
GGA | G | 15 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(12): Show | 15 | HG00140.hp1 HG00438.hp1 HG02080.hp2 others(12): Show |
intron_variant | MODIFIER | c.487-511_487-510del others(2): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868718 | ||||||
| chr18:44868720
|
A | G | 12 | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0088others(9): Show | 12 | HG01074.hp2 HG01175.hp1 HG01258.hp2 others(9): Show |
intron_variant | MODIFIER | c.487-510A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868720 | ||||||
| chr18:44868721
|
A | C | 6 | a0001c0001t0001g0021a0001c0001t0002g0125a0001c0001t0024g0108others(3): Show | 6 | HG00099.hp1 HG02165.hp1 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-509A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868721 | ||||||
| chr18:44868724
|
A | G | 5 | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0140others(2): Show | 5 | HG00741.hp1 HG01261.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-506A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868724 | ||||||
| chr18:44868725
|
A | C | 16 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(13): Show | 16 | HG00140.hp1 HG00438.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.487-505A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868725 | ||||||
| chr18:44868729
|
A | C | 2 | a0001c0001t0001g0122a0003c0003t0018g0011 | 2 | HG03195.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.487-501A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868729 | ||||||
| chr18:44868745
|
A | C | 2 | a0001c0001t0004g0006a0001c0001t0009g0027 | 2 | HG02647.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.487-485A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | 44868745 | ||||||
| chr18:44869340
|
G | A | 1 | a0001c0005t0001g0111 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.540+57G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869340 | ||||||
| chr18:44869464
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.540+181A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869464 | ||||||
| chr18:44869494
|
G | A | 1 | a0005c0006t0001g0075 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.540+211G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869494 | ||||||
| chr18:44869633
|
C | T | 14 | a0001c0001t0001g0017a0001c0001t0001g0098a0001c0001t0002g0039others(11): Show | 14 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(11): Show |
intron_variant | MODIFIER | c.540+350C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869633 | ||||||
| chr18:44869650
|
A | G | 31 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(28): Show | 31 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.540+367A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869650 | ||||||
| chr18:44869654
|
G | A | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.540+371G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869654 | ||||||
| chr18:44869672
|
C | T | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.540+389C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869672 | ||||||
| chr18:44869708
|
T | A | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.540+425T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869708 | ||||||
| chr18:44869917
|
A | G | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.540+634A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869917 | ||||||
| chr18:44869941
|
T | A | 3 | a0001c0001t0001g0049a0001c0001t0025g0042a0010c0017t0001g0041 | 3 | HG02080.hp1 NA18953.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.540+658T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869941 | ||||||
| chr18:44869983
|
G | T | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.540+700G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869983 | ||||||
| chr18:44869988
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.540+705T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44869988 | ||||||
| chr18:44870043
|
G | C | 114 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(111): Show | 114 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
intron_variant | MODIFIER | c.540+760G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870043 | ||||||
| chr18:44870170
|
G | C | 52 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.540+887G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870170 | ||||||
| chr18:44870341
|
A | C | 48 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(45): Show | 48 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(45): Show |
intron_variant | MODIFIER | c.540+1058A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870341 | ||||||
| chr18:44870341
|
A | T | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+1058A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870341 | ||||||
| chr18:44870551
|
C | T | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.540+1268C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870551 | ||||||
| chr18:44870650
|
G | A | 52 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.540+1367G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870650 | ||||||
| chr18:44870699
|
A | G | 18 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0001t0001g0097others(15): Show | 18 | HG00639.hp1 HG00639.hp2 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.540+1416A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870699 | ||||||
| chr18:44870864
|
G | A | 52 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.540+1581G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870864 | ||||||
| chr18:44870926
|
A | G | 6 | a0003c0003t0001g0047a0003c0003t0002g0014a0003c0003t0002g0116others(3): Show | 6 | HG01258.hp1 HG02004.hp1 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.540+1643A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44870926 | ||||||
| chr18:44871397
|
A | T | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.540+2114A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44871397 | ||||||
| chr18:44871424
|
C | A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.540+2141C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44871424 | ||||||
| chr18:44871788
|
T | A | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+2505T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44871788 | ||||||
| chr18:44872313
|
C | T | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+3030C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44872313 | ||||||
| chr18:44872361
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+3078C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44872361 | ||||||
| chr18:44872859
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.540+3576C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44872859 | ||||||
| chr18:44873082
|
A | G | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+3799A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873082 | ||||||
| chr18:44873104
|
CAT | C | 31 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(28): Show | 31 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.540+3823_540+3824d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44873104 | |||||
| chr18:44873309
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+4026A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873309 | ||||||
| chr18:44873579
|
C | T | 1 | a0001c0001t0001g0117 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.540+4296C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873579 | ||||||
| chr18:44873659
|
T | C | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.540+4376T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873659 | ||||||
| chr18:44873805
|
G | A | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.540+4522G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873805 | ||||||
| chr18:44873854
|
T | C | 1 | a0001c0001t0001g0028 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.540+4571T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873854 | ||||||
| chr18:44873861
|
G | A | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+4578G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873861 | ||||||
| chr18:44873870
|
T | C | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+4587T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44873870 | ||||||
| chr18:44874184
|
G | A | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.540+4901G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874184 | ||||||
| chr18:44874370
|
G | A | 4 | a0003c0003t0001g0109a0003c0003t0008g0009a0003c0003t0008g0051others(1): Show | 4 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(1): Show |
intron_variant | MODIFIER | c.540+5087G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874370 | ||||||
| chr18:44874711
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+5428G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874711 | ||||||
| chr18:44874723
|
T | C | 60 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(57): Show | 60 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(57): Show |
intron_variant | MODIFIER | c.540+5440T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874723 | ||||||
| chr18:44874794
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+5511G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874794 | ||||||
| chr18:44874849
|
A | C | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.540+5566A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44874849 | ||||||
| chr18:44875120
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+5837G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875120 | ||||||
| chr18:44875450
|
G | A | 3 | a0001c0001t0001g0093a0001c0001t0002g0066a0001c0005t0002g0115 | 3 | HG01175.hp1 HG01981.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.540+6167G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875450 | ||||||
| chr18:44875466
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.540+6183G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875466 | ||||||
| chr18:44875489
|
G | A | 4 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0004g0006others(1): Show | 4 | HG02647.hp2 HG02895.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.540+6206G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875489 | ||||||
| chr18:44875527
|
C | CA | 7 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0122others(4): Show | 7 | HG01167.hp1 HG01175.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.540+6268dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44875527 | |||||
| chr18:44875527
|
C | CAA | 15 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0001t0002g0039others(12): Show | 15 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+6267_540+6268d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44875527 | |||||
| chr18:44875527
|
C | CAAA | 39 | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0032others(36): Show | 39 | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.540+6266_540+6268d others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44875527 | |||||
| chr18:44875527
|
CA | C | 10 | a0001c0001t0001g0071a0001c0001t0012g0033a0002c0002t0001g0123others(7): Show | 10 | HG01070.hp1 HG01074.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.540+6268delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44875527 | |||||
| chr18:44875687
|
C | T | 3 | a0001c0001t0002g0102a0003c0003t0017g0052a0004c0004t0001g0054 | 3 | HG02523.hp1 NA18981.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.540+6404C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875687 | ||||||
| chr18:44875695
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+6412G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875695 | ||||||
| chr18:44875743
|
T | C | 1 | a0003c0003t0001g0047 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.540+6460T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875743 | ||||||
| chr18:44875820
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+6537C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44875820 | ||||||
| chr18:44876016
|
A | G | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+6733A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44876016 | ||||||
| chr18:44876148
|
A | G | 2 | a0001c0001t0001g0099a0001c0001t0010g0131 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.540+6865A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44876148 | ||||||
| chr18:44876688
|
G | A | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+7405G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44876688 | ||||||
| chr18:44876705
|
C | CTCTT | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+7422_540+7423i others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44876705 | ||||||
| chr18:44876939
|
G | A | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.540+7656G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44876939 | ||||||
| chr18:44877214
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+7931G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44877214 | ||||||
| chr18:44877388
|
A | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+8105A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44877388 | ||||||
| chr18:44877688
|
C | G | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.540+8405C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44877688 | ||||||
| chr18:44877847
|
G | A | 6 | a0001c0001t0001g0040a0001c0001t0001g0071a0001c0001t0005g0087others(3): Show | 6 | HG01255.hp1 HG01978.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.540+8564G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44877847 | ||||||
| chr18:44878231
|
C | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+8948C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44878231 | ||||||
| chr18:44878333
|
A | AT | 56 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(53): Show | 56 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.540+9060dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44878333 | |||||
| chr18:44878469
|
C | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+9186C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44878469 | ||||||
| chr18:44878473
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+9190A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44878473 | ||||||
| chr18:44878777
|
G | A | 4 | a0001c0001t0001g0005a0001c0001t0002g0125a0003c0003t0001g0082others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.540+9494G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44878777 | ||||||
| chr18:44878863
|
A | G | 2 | a0002c0002t0001g0136a0002c0002t0002g0135 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.540+9580A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44878863 | ||||||
| chr18:44879046
|
G | A | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+9763G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44879046 | ||||||
| chr18:44879539
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+10256G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44879539 | ||||||
| chr18:44879997
|
A | G | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.540+10714A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44879997 | ||||||
| chr18:44880471
|
A | G | 114 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(111): Show | 114 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
intron_variant | MODIFIER | c.540+11188A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44880471 | ||||||
| chr18:44880596
|
G | A | 6 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0004g0006others(3): Show | 6 | HG02055.hp1 HG02647.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.540+11313G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44880596 | ||||||
| chr18:44881602
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.540+12319G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44881602 | ||||||
| chr18:44881909
|
T | C | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+12626T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44881909 | ||||||
| chr18:44882374
|
G | A | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.540+13091G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44882374 | ||||||
| chr18:44882502
|
T | C | 25 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(22): Show | 25 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.540+13219T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44882502 | ||||||
| chr18:44882598
|
T | G | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+13315T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44882598 | ||||||
| chr18:44882604
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+13321G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44882604 | ||||||
| chr18:44883019
|
G | A | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+13736G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883019 | ||||||
| chr18:44883022
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+13739T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883022 | ||||||
| chr18:44883475
|
T | A | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+14192T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883475 | ||||||
| chr18:44883578
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.540+14295G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883578 | ||||||
| chr18:44883702
|
T | C | 1 | a0002c0002t0002g0135 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.540+14419T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883702 | ||||||
| chr18:44883931
|
C | T | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.540+14648C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44883931 | ||||||
| chr18:44884893
|
A | G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.540+15610A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44884893 | ||||||
| chr18:44884914
|
C | T | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+15631C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44884914 | ||||||
| chr18:44885019
|
C | T | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+15736C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44885019 | ||||||
| chr18:44885677
|
G | A | 1 | a0005c0006t0022g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.540+16394G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44885677 | ||||||
| chr18:44885842
|
T | TAAAAAA | 7 | a0001c0001t0001g0068a0001c0005t0020g0072a0003c0003t0001g0063others(4): Show | 7 | HG01167.hp1 HG01175.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.540+16568_540+1657 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA | 5 | a0003c0003t0001g0047a0003c0003t0001g0109a0003c0003t0008g0009others(2): Show | 5 | HG00639.hp2 HG00735.hp1 HG02004.hp1 others(2): Show |
intron_variant | MODIFIER | c.540+16567_540+1657 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(4): Show |
1 | a0001c0001t0001g0021 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.540+16563_540+1657 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(5): Show |
2 | a0001c0001t0002g0125a0002c0002t0002g0043 | 2 | HG01934.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.540+16562_540+1657 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(6): Show |
6 | a0001c0001t0005g0087a0001c0005t0002g0031a0003c0003t0001g0082others(3): Show | 6 | HG01070.hp2 HG01255.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.540+16561_540+1657 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(7): Show |
3 | a0001c0001t0001g0040a0003c0003t0001g0083a0006c0007t0002g0114 | 3 | HG01071.hp2 HG01496.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.540+16560_540+1657 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(8): Show |
4 | a0001c0001t0002g0102a0002c0002t0001g0123a0002c0002t0005g0107others(1): Show | 4 | HG03486.hp1 NA18981.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.540+16573_540+1657 others(19): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(9): Show |
4 | a0001c0001t0001g0071a0001c0001t0012g0033a0002c0002t0001g0136others(1): Show | 4 | HG01070.hp1 HG01074.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.540+16573_540+1657 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(12): Show |
2 | a0002c0002t0001g0073a0002c0002t0001g0074 | 2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.540+16573_540+1657 others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(13): Show |
2 | a0001c0001t0001g0002a0001c0001t0005g0079 | 2 | HG02572.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.540+16573_540+1657 others(24): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(14): Show |
1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.540+16573_540+1657 others(25): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(15): Show |
1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.540+16573_540+1657 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(16): Show |
3 | a0001c0001t0002g0010a0002c0002t0001g0012a0002c0002t0002g0045 | 3 | HG02165.hp1 HG03710.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.540+16573_540+1657 others(27): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(17): Show |
4 | a0001c0001t0001g0018a0001c0001t0002g0127a0001c0001t0010g0035others(1): Show | 4 | HG00140.hp1 HG02486.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.540+16573_540+1657 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(18): Show |
2 | a0001c0001t0024g0108a0005c0006t0001g0007 | 2 | NA19030.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.540+16573_540+1657 others(29): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(19): Show |
1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.540+16573_540+1657 others(30): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(20): Show |
1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.540+16573_540+1657 others(31): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885842
|
T | TAAAAAAA others(23): Show |
1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.540+16573_540+1657 others(34): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885842 | |||||
| chr18:44885844
|
AAAAAAAA others(6): Show |
A | 16 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(13): Show | 16 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.540+16573_540+1658 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885844 | |||||
| chr18:44885846
|
AAAAAAAA others(4): Show |
A | 31 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0097others(28): Show | 31 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.540+16574_540+1658 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44885846 | |||||
| chr18:44885857
|
C | A | 86 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(83): Show | 86 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(83): Show |
intron_variant | MODIFIER | c.540+16574C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44885857 | ||||||
| chr18:44885968
|
C | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.540+16685C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44885968 | ||||||
| chr18:44885992
|
A | C | 46 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0030others(43): Show | 46 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.540+16709A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44885992 | ||||||
| chr18:44886422
|
G | T | 51 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.540+17139G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44886422 | ||||||
| chr18:44886544
|
T | C | 1 | a0004c0004t0001g0003 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.540+17261T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44886544 | ||||||
| chr18:44886754
|
T | TTTA | 43 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(40): Show | 43 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(40): Show |
intron_variant | MODIFIER | c.540+17508_540+1751 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886754
|
T | TTTATTA | 13 | a0001c0001t0001g0126a0001c0001t0002g0102a0001c0001t0003g0037others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.540+17505_540+1751 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886754
|
T | TTTATTAT others(2): Show |
5 | a0001c0001t0002g0125a0001c0001t0004g0006a0001c0001t0005g0079others(2): Show | 5 | HG02602.hp2 HG02622.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.540+17502_540+1751 others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886754
|
TTTA | T | 36 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0029others(33): Show | 36 | HG00741.hp1 HG01074.hp2 HG01167.hp2 others(33): Show |
intron_variant | MODIFIER | c.540+17508_540+1751 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886754
|
TTTATTA | T | 19 | a0001c0001t0001g0028a0001c0001t0001g0044a0001c0001t0001g0068others(16): Show | 19 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.540+17505_540+1751 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886754
|
TTTATTAT others(2): Show |
T | 2 | a0001c0001t0001g0140a0001c0001t0010g0035 | 2 | HG02486.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.540+17502_540+1751 others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44886754 | |||||
| chr18:44886832
|
A | T | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+17549A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44886832 | ||||||
| chr18:44887077
|
G | C | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+17794G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887077 | ||||||
| chr18:44887612
|
A | G | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.540+18329A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887612 | ||||||
| chr18:44887758
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.540+18475G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887758 | ||||||
| chr18:44887793
|
G | A | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.540+18510G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887793 | ||||||
| chr18:44887887
|
C | G | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.540+18604C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887887 | ||||||
| chr18:44887932
|
G | A | 15 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0068others(12): Show | 15 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+18649G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44887932 | ||||||
| chr18:44888309
|
T | G | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+19026T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44888309 | ||||||
| chr18:44888387
|
C | T | 6 | a0002c0002t0001g0123a0002c0002t0001g0136a0002c0002t0002g0135others(3): Show | 6 | HG01070.hp1 HG01074.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.540+19104C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44888387 | ||||||
| chr18:44888388
|
C | CT | 3 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0009g0027 | 3 | HG02895.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.540+19111dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44888388 | |||||
| chr18:44888700
|
T | C | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+19417T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44888700 | ||||||
| chr18:44888870
|
G | C | 1 | a0003c0003t0002g0014 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.540+19587G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44888870 | ||||||
| chr18:44889062
|
A | G | 1 | a0001c0009t0002g0133 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.540+19779A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44889062 | ||||||
| chr18:44889473
|
G | A | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.540+20190G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44889473 | ||||||
| chr18:44889883
|
G | A | 51 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.540+20600G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44889883 | ||||||
| chr18:44889992
|
C | T | 1 | a0001c0001t0001g0040 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.540+20709C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44889992 | ||||||
| chr18:44889993
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.540+20710G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44889993 | ||||||
| chr18:44890336
|
C | T | 2 | a0001c0001t0001g0034a0001c0001t0009g0027 | 2 | HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.540+21053C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890336 | ||||||
| chr18:44890471
|
C | A | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+21188C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890471 | ||||||
| chr18:44890524
|
A | G | 1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.540+21241A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890524 | ||||||
| chr18:44890577
|
C | G | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+21294C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890577 | ||||||
| chr18:44890761
|
A | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+21478A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890761 | ||||||
| chr18:44890914
|
T | C | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+21631T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44890914 | ||||||
| chr18:44891045
|
G | A | 9 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0061others(6): Show | 9 | HG02055.hp2 HG02630.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.540+21762G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44891045 | ||||||
| chr18:44891366
|
A | G | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+22083A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44891366 | ||||||
| chr18:44891441
|
A | C | 62 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.540+22158A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44891441 | ||||||
| chr18:44891547
|
G | T | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.540+22264G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44891547 | ||||||
| chr18:44891642
|
G | GA | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+22368dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44891642 | |||||
| chr18:44892384
|
A | C | 2 | a0002c0002t0001g0081a0002c0002t0014g0130 | 2 | HG02717.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.540+23101A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44892384 | ||||||
| chr18:44892679
|
A | G | 1 | a0001c0001t0005g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.540+23396A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44892679 | ||||||
| chr18:44892703
|
T | G | 1 | a0001c0001t0001g0030 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.540+23420T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44892703 | ||||||
| chr18:44892712
|
T | C | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+23429T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44892712 | ||||||
| chr18:44892988
|
A | T | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.540+23705A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44892988 | ||||||
| chr18:44893072
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+23789T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893072 | ||||||
| chr18:44893341
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.540+24058G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893341 | ||||||
| chr18:44893479
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.540+24196C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893479 | ||||||
| chr18:44893533
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0009g0027 | 3 | HG02895.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.540+24250G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893533 | ||||||
| chr18:44893571
|
C | T | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.540+24288C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893571 | ||||||
| chr18:44893607
|
T | C | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+24324T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893607 | ||||||
| chr18:44893685
|
G | T | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+24402G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893685 | ||||||
| chr18:44893695
|
T | C | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+24412T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893695 | ||||||
| chr18:44893867
|
C | T | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+24584C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44893867 | ||||||
| chr18:44894399
|
A | AT | 6 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0004g0006others(3): Show | 6 | HG02055.hp1 HG02647.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.540+25126dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44894399 | |||||
| chr18:44894427
|
A | G | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.540+25144A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44894427 | ||||||
| chr18:44894446
|
T | C | 1 | a0001c0001t0002g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.540+25163T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44894446 | ||||||
| chr18:44894616
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+25333T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44894616 | ||||||
| chr18:44894956
|
T | TA | 58 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0029others(55): Show | 58 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(55): Show |
intron_variant | MODIFIER | c.540+25687dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44894956 | |||||
| chr18:44894956
|
TA | T | 7 | a0001c0001t0001g0091a0001c0001t0002g0125a0001c0001t0003g0057others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.540+25687delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44894956 | |||||
| chr18:44895009
|
G | A | 2 | a0001c0001t0001g0134a0002c0002t0004g0095 | 2 | HG03471.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.540+25726G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895009 | ||||||
| chr18:44895066
|
A | G | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+25783A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895066 | ||||||
| chr18:44895256
|
G | A | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.540+25973G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895256 | ||||||
| chr18:44895267
|
G | A | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.540+25984G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895267 | ||||||
| chr18:44895811
|
T | A | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+26528T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895811 | ||||||
| chr18:44895814
|
T | C | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+26531T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895814 | ||||||
| chr18:44895994
|
C | T | 3 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0009g0027 | 3 | HG02895.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.540+26711C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44895994 | ||||||
| chr18:44896243
|
T | C | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.540+26960T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44896243 | ||||||
| chr18:44896482
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.540+27199C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44896482 | ||||||
| chr18:44896899
|
A | G | 61 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(58): Show | 61 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.540+27616A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44896899 | ||||||
| chr18:44897007
|
G | A | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.540+27724G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44897007 | ||||||
| chr18:44897060
|
G | T | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.540+27777G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44897060 | ||||||
| chr18:44897219
|
C | A | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+27936C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44897219 | ||||||
| chr18:44897582
|
T | G | 1 | a0001c0001t0001g0008 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.540+28299T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44897582 | ||||||
| chr18:44897884
|
C | G | 2 | a0002c0002t0001g0081a0002c0002t0014g0130 | 2 | HG02717.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.540+28601C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44897884 | ||||||
| chr18:44898014
|
T | C | 16 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(13): Show | 16 | HG01167.hp2 HG02055.hp2 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.540+28731T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898014 | ||||||
| chr18:44898028
|
A | G | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+28745A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898028 | ||||||
| chr18:44898205
|
A | G | 1 | a0001c0009t0002g0106 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.540+28922A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898205 | ||||||
| chr18:44898404
|
C | T | 111 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.540+29121C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898404 | ||||||
| chr18:44898527
|
G | A | 57 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(54): Show | 57 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(54): Show |
intron_variant | MODIFIER | c.540+29244G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898527 | ||||||
| chr18:44898555
|
G | T | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.540+29272G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898555 | ||||||
| chr18:44898698
|
T | G | 4 | a0001c0001t0002g0125a0002c0002t0002g0043a0003c0003t0001g0082others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.540+29415T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898698 | ||||||
| chr18:44898793
|
C | T | 3 | a0002c0002t0001g0123a0002c0002t0005g0107a0008c0011t0004g0124 | 3 | HG03486.hp1 NA19043.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.540+29510C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898793 | ||||||
| chr18:44898969
|
T | C | 55 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(52): Show | 55 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(52): Show |
intron_variant | MODIFIER | c.540+29686T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44898969 | ||||||
| chr18:44899051
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.540+29768G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44899051 | ||||||
| chr18:44899294
|
A | G | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.540+30011A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44899294 | ||||||
| chr18:44900301
|
C | T | 1 | a0002c0002t0001g0020 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.540+31018C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44900301 | ||||||
| chr18:44900372
|
A | G | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.540+31089A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44900372 | ||||||
| chr18:44900637
|
C | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+31354C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44900637 | ||||||
| chr18:44900644
|
A | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.540+31361A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44900644 | ||||||
| chr18:44900664
|
C | T | 1 | a0001c0001t0004g0006 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.540+31381C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44900664 | ||||||
| chr18:44901083
|
T | C | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.540+31800T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44901083 | ||||||
| chr18:44901460
|
A | G | 26 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(23): Show | 26 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(23): Show |
intron_variant | MODIFIER | c.540+32177A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44901460 | ||||||
| chr18:44901601
|
G | A | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.540+32318G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44901601 | ||||||
| chr18:44901734
|
T | C | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.540+32451T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44901734 | ||||||
| chr18:44902020
|
A | G | 68 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(65): Show | 68 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(65): Show |
intron_variant | MODIFIER | c.540+32737A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902020 | ||||||
| chr18:44902027
|
A | G | 14 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(11): Show | 14 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+32744A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902027 | ||||||
| chr18:44902061
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+32778T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902061 | ||||||
| chr18:44902232
|
TTC | T | 110 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(107): Show | 110 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
intron_variant | MODIFIER | c.540+32969_540+3297 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44902232 | |||||
| chr18:44902264
|
A | G | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.540+32981A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902264 | ||||||
| chr18:44902301
|
A | T | 1 | a0005c0006t0003g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.540+33018A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902301 | ||||||
| chr18:44902631
|
T | C | 27 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(24): Show | 27 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(24): Show |
intron_variant | MODIFIER | c.540+33348T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902631 | ||||||
| chr18:44902801
|
G | A | 3 | a0001c0001t0001g0034a0001c0001t0003g0059a0001c0001t0009g0027 | 3 | HG02895.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.540+33518G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902801 | ||||||
| chr18:44902837
|
T | C | 18 | a0001c0001t0001g0017a0001c0001t0001g0098a0001c0001t0001g0134others(15): Show | 18 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(15): Show |
intron_variant | MODIFIER | c.540+33554T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902837 | ||||||
| chr18:44902936
|
T | C | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.540+33653T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902936 | ||||||
| chr18:44902937
|
A | G | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.540+33654A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44902937 | ||||||
| chr18:44903146
|
A | G | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.540+33863A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44903146 | ||||||
| chr18:44904028
|
T | C | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.540+34745T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44904028 | ||||||
| chr18:44904197
|
G | A | 2 | a0002c0002t0001g0081a0002c0002t0014g0130 | 2 | HG02717.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.540+34914G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44904197 | ||||||
| chr18:44904403
|
C | T | 26 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(23): Show | 26 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(23): Show |
intron_variant | MODIFIER | c.540+35120C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44904403 | ||||||
| chr18:44904978
|
C | T | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.540+35695C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44904978 | ||||||
| chr18:44905217
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+35934C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905217 | ||||||
| chr18:44905222
|
T | A | 111 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.540+35939T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905222 | ||||||
| chr18:44905332
|
A | C | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.540+36049A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905332 | ||||||
| chr18:44905436
|
C | T | 111 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.540+36153C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905436 | ||||||
| chr18:44905484
|
T | A | 2 | a0003c0003t0001g0082a0003c0003t0001g0083 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.540+36201T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905484 | ||||||
| chr18:44905535
|
T | C | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.540+36252T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905535 | ||||||
| chr18:44905559
|
A | C | 2 | a0001c0005t0001g0084a0001c0005t0001g0111 | 2 | HG01981.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.540+36276A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44905559 | ||||||
| chr18:44905579
|
TA | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.540+36299delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44905579 | |||||
| chr18:44906034
|
G | A | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.540+36751G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44906034 | ||||||
| chr18:44906316
|
T | C | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.540+37033T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44906316 | ||||||
| chr18:44906570
|
C | G | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+37287C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44906570 | ||||||
| chr18:44906934
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.540+37651C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44906934 | ||||||
| chr18:44907141
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+37858A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907141 | ||||||
| chr18:44907242
|
A | T | 1 | a0001c0005t0001g0111 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.540+37959A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907242 | ||||||
| chr18:44907305
|
G | A | 70 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(67): Show |
intron_variant | MODIFIER | c.540+38022G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907305 | ||||||
| chr18:44907308
|
A | G | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+38025A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907308 | ||||||
| chr18:44907527
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+38244A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907527 | ||||||
| chr18:44907555
|
G | T | 1 | a0001c0001t0001g0021 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.540+38272G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907555 | ||||||
| chr18:44907970
|
C | T | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.540+38687C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44907970 | ||||||
| chr18:44908028
|
A | G | 53 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(50): Show | 53 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.540+38745A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44908028 | ||||||
| chr18:44908068
|
AT | A | 26 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(23): Show | 26 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(23): Show |
intron_variant | MODIFIER | c.540+38795delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44908068 | |||||
| chr18:44908095
|
C | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.540+38812C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44908095 | ||||||
| chr18:44908206
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.540+38923G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44908206 | ||||||
| chr18:44908294
|
C | T | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.540+39011C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44908294 | ||||||
| chr18:44908552
|
T | C | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.540+39269T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44908552 | ||||||
| chr18:44909038
|
C | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+39755C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909038 | ||||||
| chr18:44909047
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+39764T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909047 | ||||||
| chr18:44909380
|
G | A | 1 | a0001c0001t0005g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.540+40097G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909380 | ||||||
| chr18:44909469
|
C | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.540+40186C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909469 | ||||||
| chr18:44909473
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.540+40190G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909473 | ||||||
| chr18:44909611
|
C | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-40270C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909611 | ||||||
| chr18:44909716
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-40165C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909716 | ||||||
| chr18:44909808
|
C | T | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-40073C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909808 | ||||||
| chr18:44909941
|
C | T | 1 | a0004c0004t0001g0054 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.541-39940C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909941 | ||||||
| chr18:44909972
|
A | G | 70 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(67): Show |
intron_variant | MODIFIER | c.541-39909A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909972 | ||||||
| chr18:44909978
|
C | G | 26 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(23): Show | 26 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(23): Show |
intron_variant | MODIFIER | c.541-39903C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909978 | ||||||
| chr18:44909993
|
T | G | 2 | a0001c0005t0001g0084a0001c0005t0001g0111 | 2 | HG01981.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.541-39888T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44909993 | ||||||
| chr18:44910359
|
A | G | 2 | a0001c0001t0015g0015a0002c0002t0006g0048 | 2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.541-39522A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910359 | ||||||
| chr18:44910440
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-39441A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910440 | ||||||
| chr18:44910647
|
C | T | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.541-39234C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910647 | ||||||
| chr18:44910800
|
T | C | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.541-39081T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910800 | ||||||
| chr18:44910906
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0137 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.541-38975A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910906 | ||||||
| chr18:44910944
|
G | C | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-38937G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44910944 | ||||||
| chr18:44911092
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-38789A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44911092 | ||||||
| chr18:44911299
|
T | C | 1 | a0002c0002t0001g0074 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.541-38582T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44911299 | ||||||
| chr18:44911804
|
C | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.541-38077C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44911804 | ||||||
| chr18:44911941
|
C | CCA | 54 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.541-37923_541-3792 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44911941 | |||||
| chr18:44912311
|
A | G | 1 | a0001c0001t0003g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.541-37570A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44912311 | ||||||
| chr18:44912696
|
C | T | 7 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0060others(4): Show | 7 | HG01192.hp1 HG01496.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-37185C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44912696 | ||||||
| chr18:44913236
|
C | A | 1 | a0001c0001t0001g0076 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.541-36645C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44913236 | ||||||
| chr18:44913313
|
A | G | 1 | a0001c0001t0004g0006 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.541-36568A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44913313 | ||||||
| chr18:44913839
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-36042A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44913839 | ||||||
| chr18:44913942
|
C | A | 111 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.541-35939C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44913942 | ||||||
| chr18:44913993
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-35888A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44913993 | ||||||
| chr18:44914107
|
G | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-35774G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44914107 | ||||||
| chr18:44914464
|
G | A | 14 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0005t0020g0072others(11): Show | 14 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.541-35417G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44914464 | ||||||
| chr18:44914946
|
A | G | 1 | a0001c0001t0004g0006 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.541-34935A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44914946 | ||||||
| chr18:44915324
|
A | T | 1 | a0001c0001t0002g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.541-34557A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44915324 | ||||||
| chr18:44915373
|
G | C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.541-34508G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44915373 | ||||||
| chr18:44915468
|
A | C | 15 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(12): Show | 15 | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-34413A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44915468 | ||||||
| chr18:44915572
|
T | C | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.541-34309T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44915572 | ||||||
| chr18:44915742
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.541-34139C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44915742 | ||||||
| chr18:44916055
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-33826A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916055 | ||||||
| chr18:44916224
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-33657T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916224 | ||||||
| chr18:44916536
|
T | C | 1 | a0002c0002t0001g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.541-33345T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916536 | ||||||
| chr18:44916589
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-33292C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916589 | ||||||
| chr18:44916667
|
A | G | 1 | a0005c0006t0001g0075 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.541-33214A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916667 | ||||||
| chr18:44916668
|
TATTTTC | T | 2 | a0001c0001t0001g0017a0001c0001t0002g0039 | 2 | HG00099.hp2 HG00140.hp2 |
intron_variant | MODIFIER | c.541-33212_541-3320 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916668 | ||||||
| chr18:44916676
|
G | A | 2 | a0001c0001t0001g0017a0001c0001t0002g0039 | 2 | HG00099.hp2 HG00140.hp2 |
intron_variant | MODIFIER | c.541-33205G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916676 | ||||||
| chr18:44916677
|
A | T | 2 | a0001c0001t0001g0017a0001c0001t0002g0039 | 2 | HG00099.hp2 HG00140.hp2 |
intron_variant | MODIFIER | c.541-33204A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916677 | ||||||
| chr18:44916954
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-32927G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916954 | ||||||
| chr18:44916970
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-32911A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44916970 | ||||||
| chr18:44917387
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-32494C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917387 | ||||||
| chr18:44917613
|
T | A | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.541-32268T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917613 | ||||||
| chr18:44917867
|
C | T | 2 | a0001c0005t0001g0084a0001c0005t0001g0111 | 2 | HG01981.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.541-32014C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917867 | ||||||
| chr18:44917891
|
A | T | 1 | a0001c0001t0001g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.541-31990A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917891 | ||||||
| chr18:44917892
|
T | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0021others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.541-31989T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917892 | ||||||
| chr18:44917894
|
G | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0021others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.541-31987G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917894 | ||||||
| chr18:44917897
|
G | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0021others(45): Show | 48 | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.541-31984G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917897 | ||||||
| chr18:44917968
|
G | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-31913G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44917968 | ||||||
| chr18:44918284
|
C | A | 1 | a0005c0006t0003g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.541-31597C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44918284 | ||||||
| chr18:44918369
|
A | G | 15 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0076others(12): Show | 15 | HG02055.hp1 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-31512A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44918369 | ||||||
| chr18:44918412
|
A | G | 6 | a0001c0001t0001g0034a0001c0001t0001g0126a0001c0001t0004g0006others(3): Show | 6 | HG02055.hp1 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.541-31469A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44918412 | ||||||
| chr18:44918520
|
C | G | 3 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001 | 3 | HG02109.hp2 HG02886.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.541-31361C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44918520 | ||||||
| chr18:44919347
|
C | CT | 48 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(45): Show | 48 | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(45): Show |
intron_variant | MODIFIER | c.541-30518dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44919347 | |||||
| chr18:44919755
|
T | C | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-30126T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44919755 | ||||||
| chr18:44919778
|
CACAT | C | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-30097_541-3009 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44919778 | |||||
| chr18:44919869
|
C | T | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.541-30012C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44919869 | ||||||
| chr18:44920374
|
C | T | 2 | a0001c0001t0005g0087a0005c0006t0003g0022 | 2 | HG02896.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.541-29507C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920374 | ||||||
| chr18:44920558
|
G | A | 16 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(13): Show | 16 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.541-29323G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920558 | ||||||
| chr18:44920631
|
A | G | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-29250A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920631 | ||||||
| chr18:44920674
|
T | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-29207T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920674 | ||||||
| chr18:44920844
|
C | CT | 16 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(13): Show | 16 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.541-29037_541-2903 others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920844 | ||||||
| chr18:44920866
|
C | G | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.541-29015C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44920866 | ||||||
| chr18:44921193
|
A | T | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.541-28688A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921193 | ||||||
| chr18:44921220
|
G | A | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-28661G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921220 | ||||||
| chr18:44921260
|
A | G | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-28621A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921260 | ||||||
| chr18:44921607
|
T | C | 4 | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-28274T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921607 | ||||||
| chr18:44921902
|
A | G | 1 | a0004c0004t0001g0119 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.541-27979A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921902 | ||||||
| chr18:44921946
|
G | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-27935G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921946 | ||||||
| chr18:44921961
|
C | T | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-27920C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44921961 | ||||||
| chr18:44922064
|
A | C | 1 | a0001c0001t0001g0134 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.541-27817A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44922064 | ||||||
| chr18:44922072
|
C | G | 2 | a0001c0001t0001g0016a0001c0001t0002g0094 | 2 | HG02083.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.541-27809C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44922072 | ||||||
| chr18:44922173
|
G | A | 3 | a0001c0001t0001g0134a0001c0001t0009g0077a0004c0004t0007g0070 | 3 | HG02896.hp2 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.541-27708G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44922173 | ||||||
| chr18:44922932
|
A | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-26949A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44922932 | ||||||
| chr18:44922976
|
A | G | 2 | a0001c0001t0004g0006a0001c0001t0012g0033 | 2 | HG02647.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.541-26905A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44922976 | ||||||
| chr18:44923022
|
C | T | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.541-26859C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44923022 | ||||||
| chr18:44923172
|
T | G | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-26709T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44923172 | ||||||
| chr18:44923177
|
AGATGAAG others(9): Show |
A | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-26701_541-2668 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44923177 | |||||
| chr18:44923319
|
A | G | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-26562A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44923319 | ||||||
| chr18:44923459
|
T | A | 2 | a0003c0003t0001g0082a0003c0003t0001g0083 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.541-26422T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44923459 | ||||||
| chr18:44923750
|
A | G | 20 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(17): Show | 20 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.541-26131A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44923750 | ||||||
| chr18:44924015
|
T | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-25866T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924015 | ||||||
| chr18:44924179
|
C | T | 1 | a0003c0003t0008g0009 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.541-25702C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924179 | ||||||
| chr18:44924217
|
A | G | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.541-25664A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924217 | ||||||
| chr18:44924540
|
A | T | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.541-25341A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924540 | ||||||
| chr18:44924604
|
A | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-25277A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924604 | ||||||
| chr18:44924766
|
C | G | 1 | a0001c0001t0001g0120 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.541-25115C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924766 | ||||||
| chr18:44924858
|
A | G | 1 | a0001c0001t0009g0077 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.541-25023A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44924858 | ||||||
| chr18:44925007
|
GT | G | 31 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(28): Show | 31 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(28): Show |
intron_variant | MODIFIER | c.541-24846delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44925007 | |||||
| chr18:44925007
|
GTT | G | 6 | a0001c0001t0002g0094a0001c0005t0020g0072a0002c0002t0001g0123others(3): Show | 6 | HG01070.hp1 HG01074.hp1 HG02083.hp1 others(3): Show |
intron_variant | MODIFIER | c.541-24847_541-2484 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44925007 | |||||
| chr18:44925007
|
GTTTTTTT others(6): Show |
G | 1 | a0001c0001t0001g0040 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.541-24858_541-2484 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44925007 | |||||
| chr18:44925010
|
T | TTG | 17 | a0001c0001t0001g0008a0001c0001t0001g0060a0001c0001t0001g0091others(14): Show | 17 | HG01175.hp1 HG01261.hp1 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.541-24870_541-2486 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44925010 | |||||
| chr18:44925011
|
T | TG | 47 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0032others(44): Show | 47 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(44): Show |
intron_variant | MODIFIER | c.541-24870_541-2486 others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925011 | ||||||
| chr18:44925012
|
T | G | 20 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(17): Show | 20 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.541-24869T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925012 | ||||||
| chr18:44925014
|
T | G | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.541-24867T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925014 | ||||||
| chr18:44925015
|
T | G | 10 | a0001c0001t0001g0008a0001c0001t0001g0060a0001c0001t0001g0091others(7): Show | 10 | HG01175.hp1 HG01261.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.541-24866T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925015 | ||||||
| chr18:44925016
|
T | G | 20 | a0001c0001t0001g0005a0001c0001t0001g0044a0001c0001t0001g0046others(17): Show | 20 | HG00741.hp1 HG01074.hp2 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.541-24865T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925016 | ||||||
| chr18:44925025
|
T | G | 19 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(16): Show | 19 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.541-24856T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925025 | ||||||
| chr18:44925150
|
C | T | 27 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.541-24731C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925150 | ||||||
| chr18:44925219
|
T | C | 1 | a0004c0015t0004g0036 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.541-24662T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925219 | ||||||
| chr18:44925462
|
T | C | 4 | a0001c0001t0001g0098a0004c0004t0001g0085a0004c0004t0002g0078others(1): Show | 4 | HG01978.hp2 HG02165.hp2 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-24419T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925462 | ||||||
| chr18:44925500
|
T | G | 1 | a0001c0001t0001g0076 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.541-24381T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925500 | ||||||
| chr18:44925834
|
C | A | 19 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(16): Show | 19 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.541-24047C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44925834 | ||||||
| chr18:44926188
|
T | C | 81 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(78): Show | 81 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.541-23693T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44926188 | ||||||
| chr18:44926212
|
T | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-23669T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44926212 | ||||||
| chr18:44926354
|
C | G | 1 | a0001c0016t0001g0101 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.541-23527C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44926354 | ||||||
| chr18:44926745
|
AAAAC | A | 32 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(29): Show |
intron_variant | MODIFIER | c.541-23117_541-2311 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44926745 | |||||
| chr18:44926758
|
AAACAAAC others(6): Show |
A | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-23117_541-2310 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44926758 | |||||
| chr18:44926762
|
AAACAAC | A | 21 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(18): Show | 21 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(18): Show |
intron_variant | MODIFIER | c.541-23098_541-2309 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44926762 | |||||
| chr18:44927255
|
C | T | 1 | a0001c0001t0002g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.541-22626C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44927255 | ||||||
| chr18:44927382
|
C | T | 1 | a0001c0001t0009g0077 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.541-22499C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44927382 | ||||||
| chr18:44927440
|
A | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-22441A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44927440 | ||||||
| chr18:44928044
|
TACATTAG others(9): Show |
T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-21836_541-2182 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928044 | ||||||
| chr18:44928119
|
G | A | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.541-21762G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928119 | ||||||
| chr18:44928125
|
T | C | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.541-21756T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928125 | ||||||
| chr18:44928175
|
C | T | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.541-21706C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928175 | ||||||
| chr18:44928361
|
G | A | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-21520G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928361 | ||||||
| chr18:44928567
|
T | A | 27 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.541-21314T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928567 | ||||||
| chr18:44928706
|
C | G | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.541-21175C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928706 | ||||||
| chr18:44928910
|
G | T | 6 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(3): Show | 6 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.541-20971G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44928910 | ||||||
| chr18:44929342
|
G | A | 4 | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-20539G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929342 | ||||||
| chr18:44929365
|
G | A | 2 | a0003c0003t0001g0047a0003c0003t0002g0014 | 2 | HG01258.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.541-20516G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929365 | ||||||
| chr18:44929494
|
G | A | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-20387G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929494 | ||||||
| chr18:44929538
|
C | T | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-20343C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929538 | ||||||
| chr18:44929543
|
G | A | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-20338G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929543 | ||||||
| chr18:44929594
|
A | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-20287A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929594 | ||||||
| chr18:44929651
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-20230A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929651 | ||||||
| chr18:44929898
|
T | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-19983T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44929898 | ||||||
| chr18:44930037
|
G | T | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.541-19844G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930037 | ||||||
| chr18:44930240
|
A | C | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-19641A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930240 | ||||||
| chr18:44930331
|
G | C | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.541-19550G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930331 | ||||||
| chr18:44930441
|
T | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-19440T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930441 | ||||||
| chr18:44930634
|
G | A | 12 | a0001c0001t0001g0028a0001c0001t0001g0068a0003c0003t0001g0047others(9): Show | 12 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.541-19247G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930634 | ||||||
| chr18:44930722
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.541-19159G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930722 | ||||||
| chr18:44930836
|
T | C | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.541-19045T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930836 | ||||||
| chr18:44930887
|
T | G | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-18994T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930887 | ||||||
| chr18:44930901
|
T | C | 2 | a0003c0003t0001g0082a0003c0003t0001g0083 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.541-18980T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930901 | ||||||
| chr18:44930908
|
T | G | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.541-18973T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44930908 | ||||||
| chr18:44931352
|
C | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-18529C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931352 | ||||||
| chr18:44931437
|
T | C | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-18444T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931437 | ||||||
| chr18:44931539
|
T | C | 5 | a0001c0001t0001g0034a0001c0001t0003g0037a0001c0001t0003g0059others(2): Show | 5 | HG02809.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.541-18342T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931539 | ||||||
| chr18:44931546
|
G | T | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.541-18335G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931546 | ||||||
| chr18:44931585
|
T | C | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.541-18296T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931585 | ||||||
| chr18:44931761
|
C | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-18120C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931761 | ||||||
| chr18:44931805
|
G | A | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.541-18076G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931805 | ||||||
| chr18:44931850
|
G | T | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-18031G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931850 | ||||||
| chr18:44931975
|
C | T | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.541-17906C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931975 | ||||||
| chr18:44931988
|
T | G | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-17893T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931988 | ||||||
| chr18:44931995
|
C | G | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-17886C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44931995 | ||||||
| chr18:44932078
|
T | C | 92 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(89): Show | 92 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.541-17803T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932078 | ||||||
| chr18:44932265
|
T | C | 92 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(89): Show | 92 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.541-17616T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932265 | ||||||
| chr18:44932360
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.541-17521C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932360 | ||||||
| chr18:44932473
|
T | G | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.541-17408T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932473 | ||||||
| chr18:44932567
|
G | C | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-17314G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932567 | ||||||
| chr18:44932630
|
G | C | 29 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(26): Show | 29 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-17251G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932630 | ||||||
| chr18:44932860
|
G | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-17021G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932860 | ||||||
| chr18:44932984
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-16897C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932984 | ||||||
| chr18:44932985
|
G | A | 1 | a0001c0001t0002g0102 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.541-16896G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44932985 | ||||||
| chr18:44933115
|
G | A | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.541-16766G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933115 | ||||||
| chr18:44933225
|
C | G | 19 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(16): Show | 19 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.541-16656C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933225 | ||||||
| chr18:44933339
|
G | A | 1 | a0001c0001t0001g0132 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.541-16542G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933339 | ||||||
| chr18:44933460
|
C | G | 1 | a0001c0001t0001g0088 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.541-16421C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933460 | ||||||
| chr18:44933520
|
T | C | 134 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(131): Show | 134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.541-16361T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933520 | ||||||
| chr18:44933727
|
G | A | 19 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(16): Show | 19 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.541-16154G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933727 | ||||||
| chr18:44933751
|
G | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-16130G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933751 | ||||||
| chr18:44933802
|
C | T | 27 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.541-16079C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933802 | ||||||
| chr18:44933935
|
A | C | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.541-15946A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44933935 | ||||||
| chr18:44934009
|
C | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-15872C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934009 | ||||||
| chr18:44934145
|
CT | C | 22 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(19): Show | 22 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.541-15722delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44934145 | |||||
| chr18:44934251
|
C | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-15630C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934251 | ||||||
| chr18:44934366
|
G | C | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-15515G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934366 | ||||||
| chr18:44934400
|
C | T | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.541-15481C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934400 | ||||||
| chr18:44934483
|
A | G | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-15398A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934483 | ||||||
| chr18:44934572
|
T | C | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.541-15309T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44934572 | ||||||
| chr18:44935029
|
C | T | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-14852C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44935029 | ||||||
| chr18:44935061
|
A | G | 4 | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-14820A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44935061 | ||||||
| chr18:44935099
|
G | A | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.541-14782G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44935099 | ||||||
| chr18:44935102
|
A | AGCCT | 88 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.541-14778_541-1477 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44935102 | |||||
| chr18:44935893
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-13988C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44935893 | ||||||
| chr18:44935919
|
G | T | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-13962G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44935919 | ||||||
| chr18:44936024
|
T | C | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.541-13857T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936024 | ||||||
| chr18:44936050
|
T | G | 2 | a0003c0003t0001g0047a0003c0003t0002g0014 | 2 | HG01258.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.541-13831T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936050 | ||||||
| chr18:44936268
|
G | GT | 27 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.541-13612dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44936268 | |||||
| chr18:44936293
|
C | T | 61 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(58): Show | 61 | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.541-13588C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936293 | ||||||
| chr18:44936506
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.541-13375A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936506 | ||||||
| chr18:44936830
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-13051C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936830 | ||||||
| chr18:44936844
|
G | A | 1 | a0004c0004t0001g0054 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.541-13037G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44936844 | ||||||
| chr18:44937017
|
T | C | 6 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(3): Show | 6 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.541-12864T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937017 | ||||||
| chr18:44937189
|
A | G | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-12692A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937189 | ||||||
| chr18:44937227
|
C | T | 5 | a0001c0001t0001g0098a0004c0004t0001g0085a0004c0004t0002g0078others(2): Show | 5 | HG01978.hp2 HG02165.hp2 NA18953.hp2 others(2): Show |
intron_variant | MODIFIER | c.541-12654C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937227 | ||||||
| chr18:44937240
|
T | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-12641T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937240 | ||||||
| chr18:44937262
|
C | G | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.541-12619C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937262 | ||||||
| chr18:44937291
|
A | C | 36 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0032others(33): Show | 36 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.541-12590A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937291 | ||||||
| chr18:44937438
|
G | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(30): Show | 33 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.541-12443G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44937438 | ||||||
| chr18:44937454
|
C | CA | 38 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(35): Show | 38 | HG00639.hp1 HG00741.hp1 HG01074.hp2 others(35): Show |
intron_variant | MODIFIER | c.541-12405dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44937454 | |||||
| chr18:44937454
|
CA | C | 30 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0076others(27): Show | 30 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.541-12405delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44937454 | |||||
| chr18:44937454
|
CAAA | C | 15 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(12): Show | 15 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-12407_541-1240 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44937454 | |||||
| chr18:44938522
|
G | T | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.541-11359G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44938522 | ||||||
| chr18:44938726
|
G | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-11155G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44938726 | ||||||
| chr18:44938889
|
C | T | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.541-10992C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44938889 | ||||||
| chr18:44938958
|
A | ATG | 3 | a0001c0001t0001g0018a0001c0001t0001g0076a0001c0009t0002g0133 | 3 | HG00140.hp1 HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-10899_541-1089 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44938958 | |||||
| chr18:44938958
|
A | ATGTG | 52 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0028others(49): Show | 52 | HG00140.hp2 HG00438.hp2 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.541-10901_541-1089 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44938958 | |||||
| chr18:44938958
|
A | ATGTGTG | 5 | a0001c0001t0001g0068a0001c0001t0005g0138a0001c0001t0012g0033others(2): Show | 5 | HG02717.hp2 HG02976.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.541-10903_541-1089 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44938958 | |||||
| chr18:44938958
|
A | ATGTGTGT others(1): Show |
29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.541-10905_541-1089 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44938958 | |||||
| chr18:44939564
|
T | C | 31 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0034others(28): Show | 31 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.541-10317T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44939564 | ||||||
| chr18:44939683
|
A | G | 1 | a0002c0002t0006g0048 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.541-10198A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44939683 | ||||||
| chr18:44939735
|
A | T | 55 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(52): Show | 55 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show |
intron_variant | MODIFIER | c.541-10146A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44939735 | ||||||
| chr18:44939761
|
A | G | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.541-10120A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44939761 | ||||||
| chr18:44939969
|
C | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0044a0004c0004t0001g0085 | 3 | NA18963.hp1 NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.541-9912C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44939969 | ||||||
| chr18:44940345
|
G | C | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(62): Show | 65 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
intron_variant | MODIFIER | c.541-9536G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940345 | ||||||
| chr18:44940410
|
T | C | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-9471T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940410 | ||||||
| chr18:44940418
|
G | C | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-9463G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940418 | ||||||
| chr18:44940427
|
G | A | 29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.541-9454G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940427 | ||||||
| chr18:44940641
|
C | T | 115 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(112): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.541-9240C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940641 | ||||||
| chr18:44940652
|
C | T | 26 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0018others(23): Show | 26 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(23): Show |
intron_variant | MODIFIER | c.541-9229C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940652 | ||||||
| chr18:44940745
|
T | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-9136T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44940745 | ||||||
| chr18:44941076
|
AC | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-8804delC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941076 | ||||||
| chr18:44941077
|
CT | C | 52 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(49): Show | 52 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
intron_variant | MODIFIER | c.541-8781delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44941077 | |||||
| chr18:44941078
|
T | A | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.541-8803T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941078 | ||||||
| chr18:44941079
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-8802T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941079 | ||||||
| chr18:44941142
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-8739C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941142 | ||||||
| chr18:44941588
|
C | T | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-8293C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941588 | ||||||
| chr18:44941833
|
T | C | 29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.541-8048T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44941833 | ||||||
| chr18:44942548
|
A | G | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.541-7333A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44942548 | ||||||
| chr18:44942657
|
G | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-7224G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44942657 | ||||||
| chr18:44943054
|
A | G | 1 | a0007c0008t0002g0080 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.541-6827A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943054 | ||||||
| chr18:44943127
|
A | T | 25 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0002g0102others(22): Show | 25 | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(22): Show |
intron_variant | MODIFIER | c.541-6754A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943127 | ||||||
| chr18:44943321
|
C | G | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.541-6560C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943321 | ||||||
| chr18:44943840
|
C | CTT | 20 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(17): Show | 20 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.541-6030_541-6029d others(4): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44943840 | |||||
| chr18:44943840
|
CT | C | 62 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0029others(59): Show | 62 | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.541-6029delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44943840 | |||||
| chr18:44943930
|
G | C | 18 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0061others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(15): Show |
intron_variant | MODIFIER | c.541-5951G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943930 | ||||||
| chr18:44943987
|
A | G | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-5894A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943987 | ||||||
| chr18:44943990
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-5891A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44943990 | ||||||
| chr18:44944135
|
G | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(51): Show | 54 | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.541-5746G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944135 | ||||||
| chr18:44944243
|
C | T | 2 | a0001c0001t0001g0076a0001c0009t0002g0133 | 2 | HG02572.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.541-5638C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944243 | ||||||
| chr18:44944244
|
G | A | 1 | a0005c0006t0003g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.541-5637G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944244 | ||||||
| chr18:44944313
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.541-5568G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944313 | ||||||
| chr18:44944335
|
C | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-5546C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944335 | ||||||
| chr18:44944455
|
G | A | 29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.541-5426G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944455 | ||||||
| chr18:44944540
|
G | A | 113 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(110): Show | 113 | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(110): Show |
intron_variant | MODIFIER | c.541-5341G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944540 | ||||||
| chr18:44944562
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.541-5319C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944562 | ||||||
| chr18:44944885
|
A | G | 1 | a0007c0008t0002g0080 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.541-4996A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44944885 | ||||||
| chr18:44945106
|
C | A | 25 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0002g0102others(22): Show | 25 | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(22): Show |
intron_variant | MODIFIER | c.541-4775C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945106 | ||||||
| chr18:44945125
|
A | C | 29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00741.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.541-4756A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945125 | ||||||
| chr18:44945198
|
C | A | 1 | a0004c0004t0007g0070 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.541-4683C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945198 | ||||||
| chr18:44945225
|
A | G | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.541-4656A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945225 | ||||||
| chr18:44945430
|
C | G | 4 | a0001c0001t0001g0134a0001c0001t0002g0127a0001c0001t0005g0087others(1): Show | 4 | HG02723.hp1 HG02896.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.541-4451C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945430 | ||||||
| chr18:44945435
|
C | A | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.541-4446C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945435 | ||||||
| chr18:44945486
|
A | G | 118 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(115): Show | 118 | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.541-4395A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945486 | ||||||
| chr18:44945544
|
CACAA | C | 29 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0046others(26): Show | 29 | HG00438.hp1 HG00741.hp1 HG01074.hp2 others(26): Show |
intron_variant | MODIFIER | c.541-4332_541-4329d others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44945544 | |||||
| chr18:44945557
|
C | T | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.541-4324C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945557 | ||||||
| chr18:44945846
|
G | A | 93 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(90): Show | 93 | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(90): Show |
intron_variant | MODIFIER | c.541-4035G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44945846 | ||||||
| chr18:44946181
|
C | G | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.541-3700C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946181 | ||||||
| chr18:44946244
|
G | C | 134 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(131): Show | 134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.541-3637G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946244 | ||||||
| chr18:44946363
|
C | T | 104 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(101): Show | 104 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(101): Show |
intron_variant | MODIFIER | c.541-3518C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946363 | ||||||
| chr18:44946600
|
G | T | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.541-3281G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946600 | ||||||
| chr18:44946763
|
G | A | 4 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0002g0094others(1): Show | 4 | HG00438.hp1 HG02083.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-3118G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946763 | ||||||
| chr18:44946838
|
T | C | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(43): Show | 46 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.541-3043T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946838 | ||||||
| chr18:44946947
|
T | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.541-2934T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44946947 | ||||||
| chr18:44947011
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.541-2870A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947011 | ||||||
| chr18:44947044
|
G | A | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.541-2837G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947044 | ||||||
| chr18:44947299
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.541-2582A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947299 | ||||||
| chr18:44947482
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(42): Show | 45 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.541-2399G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947482 | ||||||
| chr18:44947492
|
C | CT | 31 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(28): Show | 31 | HG00099.hp2 HG00741.hp1 HG01175.hp1 others(28): Show |
intron_variant | MODIFIER | c.541-2366dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44947492 | |||||
| chr18:44947492
|
CT | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0029a0001c0001t0001g0032others(9): Show | 12 | HG00140.hp1 HG01167.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.541-2366delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44947492 | |||||
| chr18:44947540
|
C | G | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.541-2341C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947540 | ||||||
| chr18:44947570
|
G | A | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(43): Show | 46 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.541-2311G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947570 | ||||||
| chr18:44947641
|
G | T | 10 | a0002c0002t0001g0023a0002c0002t0001g0025a0002c0002t0001g0073others(7): Show | 10 | HG01934.hp2 HG02055.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.541-2240G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947641 | ||||||
| chr18:44947654
|
G | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.541-2227G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947654 | ||||||
| chr18:44947713
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-2168T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947713 | ||||||
| chr18:44947852
|
T | C | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.541-2029T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44947852 | ||||||
| chr18:44948031
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.541-1850G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44948031 | ||||||
| chr18:44948058
|
C | A | 1 | a0001c0016t0001g0101 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.541-1823C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44948058 | ||||||
| chr18:44948312
|
C | T | 4 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(1): Show | 4 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-1569C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44948312 | ||||||
| chr18:44948403
|
A | T | 2 | a0001c0001t0001g0005a0001c0001t0001g0044 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.541-1478A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44948403 | ||||||
| chr18:44948499
|
T | TGATAGAT others(1): Show |
15 | a0001c0001t0001g0030a0001c0001t0001g0134a0001c0001t0004g0006others(12): Show | 15 | HG00639.hp2 HG01167.hp1 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.541-1358_541-1351d others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
T | TGATAGAT others(5): Show |
48 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0032others(45): Show | 48 | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.541-1362_541-1351d others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
T | TGATAGAT others(9): Show |
61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(58): Show | 61 | HG00140.hp1 HG00140.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.541-1366_541-1351d others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
T | TGATAGAT others(13): Show |
4 | a0001c0001t0001g0044a0001c0001t0001g0098a0001c0001t0002g0118others(1): Show | 4 | HG01074.hp2 HG02055.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.541-1370_541-1351d others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
T | TGATTGAT others(9): Show |
1 | a0001c0001t0002g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.541-1379_541-1378i others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
T | TGATTGAT others(13): Show |
3 | a0001c0001t0001g0126a0001c0001t0003g0001a0001c0001t0003g0059 | 3 | HG02109.hp2 HG02886.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.541-1379_541-1378i others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948499
|
TGATA | T | 2 | a0001c0005t0001g0112a0001c0005t0002g0031 | 2 | HG01255.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.541-1354_541-1351d others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948499 | |||||
| chr18:44948516
|
G | GATAGATA others(9): Show |
1 | a0002c0002t0001g0012 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.541-1351_541-1350i others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948516 | |||||
| chr18:44948834
|
A | C | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.541-1047A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44948834 | ||||||
| chr18:44948986
|
A | AT | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.541-886dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | 44948986 | |||||
| chr18:44949079
|
G | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.541-802G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949079 | ||||||
| chr18:44949130
|
A | G | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.541-751A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949130 | ||||||
| chr18:44949189
|
C | A | 3 | a0001c0001t0004g0006a0001c0001t0024g0108a0008c0011t0004g0124 | 3 | HG02647.hp2 HG03486.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.541-692C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949189 | ||||||
| chr18:44949303
|
G | T | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.541-578G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949303 | ||||||
| chr18:44949372
|
G | C | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.541-509G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949372 | ||||||
| chr18:44949543
|
A | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(7): Show | 10 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.541-338A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949543 | ||||||
| chr18:44949630
|
T | G | 3 | a0001c0001t0001g0061a0001c0001t0001g0137a0001c0001t0003g0100 | 3 | HG02630.hp2 HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.541-251T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | chr18 | 44949630 | ||||||
| chr18:44953350
|
T | A | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.4000+10T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44953350 | ||||||
| chr18:44953642
|
A | G | 3 | a0001c0001t0004g0006a0001c0001t0024g0108a0008c0011t0004g0124 | 3 | HG02647.hp2 HG03486.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4000+302A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44953642 | ||||||
| chr18:44953650
|
A | C | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4000+310A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44953650 | ||||||
| chr18:44954084
|
A | G | 2 | a0004c0004t0001g0003a0004c0004t0001g0085 | 2 | NA18963.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.4000+744A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954084 | ||||||
| chr18:44954178
|
A | G | 3 | a0001c0001t0001g0061a0001c0001t0001g0137a0001c0001t0003g0100 | 3 | HG02630.hp2 HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.4000+838A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954178 | ||||||
| chr18:44954276
|
A | C | 133 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(130): Show | 133 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
intron_variant | MODIFIER | c.4000+936A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954276 | ||||||
| chr18:44954329
|
T | TAAA | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4000+1012_4000+101 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44954329 | |||||
| chr18:44954329
|
TA | T | 82 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 82 | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.4000+1014delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44954329 | |||||
| chr18:44954344
|
A | AC | 15 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(12): Show | 15 | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.4000+1004_4000+100 others(5): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954344 | ||||||
| chr18:44954432
|
T | C | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4000+1092T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954432 | ||||||
| chr18:44954470
|
A | T | 2 | a0002c0002t0001g0136a0002c0002t0002g0135 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.4000+1130A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954470 | ||||||
| chr18:44954514
|
T | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+1174T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954514 | ||||||
| chr18:44954619
|
C | T | 52 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(49): Show |
intron_variant | MODIFIER | c.4000+1279C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954619 | ||||||
| chr18:44954887
|
G | C | 2 | a0001c0001t0001g0030a0012c0014t0001g0104 | 2 | HG02647.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.4000+1547G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44954887 | ||||||
| chr18:44955129
|
G | A | 3 | a0001c0001t0001g0061a0001c0001t0001g0137a0001c0001t0003g0100 | 3 | HG02630.hp2 HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.4000+1789G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955129 | ||||||
| chr18:44955272
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4000+1932C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955272 | ||||||
| chr18:44955320
|
A | C | 2 | a0001c0001t0009g0077a0004c0004t0007g0070 | 2 | HG02896.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.4000+1980A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955320 | ||||||
| chr18:44955414
|
C | T | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4000+2074C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955414 | ||||||
| chr18:44955743
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4000+2403C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955743 | ||||||
| chr18:44955868
|
C | T | 4 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0002g0094others(1): Show | 4 | HG00438.hp1 HG02083.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+2528C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44955868 | ||||||
| chr18:44956011
|
C | T | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4000+2671C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44956011 | ||||||
| chr18:44956209
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4000+2869C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44956209 | ||||||
| chr18:44956498
|
A | G | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4000+3158A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44956498 | ||||||
| chr18:44956605
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+3265T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44956605 | ||||||
| chr18:44957017
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4000+3677G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44957017 | ||||||
| chr18:44957369
|
C | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4000+4029C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44957369 | ||||||
| chr18:44957382
|
TA | T | 70 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(67): Show | 70 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(67): Show |
intron_variant | MODIFIER | c.4000+4054delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44957382 | |||||
| chr18:44957751
|
G | A | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(40): Show | 43 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.4000+4411G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44957751 | ||||||
| chr18:44957901
|
T | C | 1 | a0004c0004t0001g0119 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.4000+4561T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44957901 | ||||||
| chr18:44958759
|
G | A | 17 | a0002c0002t0001g0012a0002c0002t0001g0020a0002c0002t0001g0023others(14): Show | 17 | HG00741.hp2 HG01070.hp1 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.4000+5419G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44958759 | ||||||
| chr18:44958844
|
G | T | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(40): Show | 43 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.4000+5504G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44958844 | ||||||
| chr18:44958991
|
A | C | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(40): Show | 43 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.4000+5651A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44958991 | ||||||
| chr18:44959572
|
A | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+6232A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44959572 | ||||||
| chr18:44959603
|
C | T | 3 | a0001c0001t0004g0006a0001c0001t0024g0108a0008c0011t0004g0124 | 3 | HG02647.hp2 HG03486.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4000+6263C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44959603 | ||||||
| chr18:44959991
|
C | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(7): Show | 10 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.4000+6651C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44959991 | ||||||
| chr18:44960106
|
G | C | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+6766G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44960106 | ||||||
| chr18:44960187
|
G | A | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+6847G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44960187 | ||||||
| chr18:44960335
|
C | A | 42 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 42 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.4000+6995C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44960335 | ||||||
| chr18:44960612
|
G | A | 1 | a0011c0013t0021g0090 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.4000+7272G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44960612 | ||||||
| chr18:44961025
|
G | A | 1 | a0001c0001t0015g0015 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.4000+7685G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44961025 | ||||||
| chr18:44961151
|
T | C | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.4000+7811T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44961151 | ||||||
| chr18:44961156
|
T | C | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+7816T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44961156 | ||||||
| chr18:44961926
|
G | A | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+8586G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44961926 | ||||||
| chr18:44962374
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+9034G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44962374 | ||||||
| chr18:44962699
|
C | T | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+9359C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44962699 | ||||||
| chr18:44962913
|
G | C | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+9573G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44962913 | ||||||
| chr18:44963073
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+9733G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963073 | ||||||
| chr18:44963140
|
C | A | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+9800C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963140 | ||||||
| chr18:44963180
|
A | G | 3 | a0001c0001t0001g0030a0001c0001t0001g0071a0012c0014t0001g0104 | 3 | HG02647.hp1 HG02809.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4000+9840A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963180 | ||||||
| chr18:44963305
|
A | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+9965A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963305 | ||||||
| chr18:44963492
|
T | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+10152T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963492 | ||||||
| chr18:44963498
|
A | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+10158A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963498 | ||||||
| chr18:44963565
|
G | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.4000+10225G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963565 | ||||||
| chr18:44963850
|
A | C | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+10510A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963850 | ||||||
| chr18:44963899
|
C | CA | 9 | a0001c0001t0001g0030a0001c0001t0001g0071a0001c0001t0001g0076others(6): Show | 9 | HG02055.hp1 HG02647.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.4000+10582dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44963899 | |||||
| chr18:44963899
|
C | CAA | 56 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(53): Show | 56 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(53): Show |
intron_variant | MODIFIER | c.4000+10581_4000+10 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44963899 | |||||
| chr18:44963899
|
C | CAAA | 9 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0001g0091others(6): Show | 9 | HG00438.hp1 HG02083.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.4000+10580_4000+10 others(9): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44963899 | |||||
| chr18:44963899
|
C | CAAAA | 9 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0068others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.4000+10579_4000+10 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44963899 | |||||
| chr18:44963924
|
G | A | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+10584G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44963924 | ||||||
| chr18:44963970
|
AAGAGATC others(19): Show |
A | 42 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 42 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.4000+10643_4000+10 others(32): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44963970 | |||||
| chr18:44964591
|
TA | T | 63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(60): Show | 63 | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.4000+11264delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44964591 | |||||
| chr18:44964604
|
A | C | 2 | a0001c0001t0001g0034a0001c0001t0009g0027 | 2 | HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4000+11264A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44964604 | ||||||
| chr18:44964873
|
T | A | 2 | a0001c0001t0001g0093a0001c0001t0002g0066 | 2 | HG01175.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4000+11533T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44964873 | ||||||
| chr18:44964914
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+11574G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44964914 | ||||||
| chr18:44964926
|
T | C | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+11586T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44964926 | ||||||
| chr18:44965246
|
G | A | 12 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(9): Show | 12 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.4000+11906G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44965246 | ||||||
| chr18:44965284
|
A | AACAC | 72 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.4000+11970_4000+11 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACAC | 18 | a0001c0001t0001g0029a0001c0001t0001g0061a0001c0001t0001g0067others(15): Show | 18 | HG00639.hp1 HG01167.hp2 HG01496.hp1 others(15): Show |
intron_variant | MODIFIER | c.4000+11968_4000+11 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACACA others(1): Show |
3 | a0001c0001t0001g0032a0001c0001t0001g0096a0001c0001t0001g0132 | 3 | HG02895.hp1 HG03453.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.4000+11966_4000+11 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACACA others(3): Show |
2 | a0001c0001t0025g0042a0004c0004t0001g0024 | 2 | HG01071.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.4000+11964_4000+11 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACACA others(5): Show |
17 | a0001c0001t0001g0034a0001c0001t0002g0010a0001c0001t0006g0092others(14): Show | 17 | HG00438.hp2 HG01261.hp2 HG01496.hp2 others(14): Show |
intron_variant | MODIFIER | c.4000+11962_4000+11 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACACA others(7): Show |
19 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 19 | HG00741.hp1 HG01175.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.4000+11960_4000+11 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
A | AACACACA others(9): Show |
3 | a0001c0001t0001g0088a0001c0001t0002g0039a0009c0018t0004g0050 | 3 | HG00099.hp2 HG03041.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.4000+11958_4000+11 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965284
|
AAC | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+11972_4000+11 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44965284 | |||||
| chr18:44965954
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+12614C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44965954 | ||||||
| chr18:44966326
|
G | A | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 59 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(56): Show |
intron_variant | MODIFIER | c.4000+12986G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44966326 | ||||||
| chr18:44966349
|
A | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+13009A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44966349 | ||||||
| chr18:44966547
|
C | T | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+13207C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44966547 | ||||||
| chr18:44966818
|
T | C | 1 | a0001c0001t0001g0071 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4000+13478T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44966818 | ||||||
| chr18:44967084
|
C | G | 1 | a0001c0001t0002g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.4000+13744C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44967084 | ||||||
| chr18:44968420
|
A | G | 6 | a0004c0004t0001g0004a0004c0004t0001g0019a0004c0004t0001g0053others(3): Show | 6 | HG00438.hp2 HG02040.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.4000+15080A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44968420 | ||||||
| chr18:44968806
|
C | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+15466C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44968806 | ||||||
| chr18:44968807
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+15467C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44968807 | ||||||
| chr18:44969292
|
C | T | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.4000+15952C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44969292 | ||||||
| chr18:44969381
|
C | A | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4000+16041C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44969381 | ||||||
| chr18:44969513
|
T | C | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 59 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(56): Show |
intron_variant | MODIFIER | c.4000+16173T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44969513 | ||||||
| chr18:44969673
|
C | G | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4000+16333C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44969673 | ||||||
| chr18:44969777
|
T | A | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+16437T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44969777 | ||||||
| chr18:44970401
|
A | G | 2 | a0001c0001t0001g0099a0001c0001t0010g0131 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4000+17061A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970401 | ||||||
| chr18:44970567
|
T | G | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+17227T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970567 | ||||||
| chr18:44970712
|
C | T | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+17372C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970712 | ||||||
| chr18:44970751
|
A | G | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4000+17411A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970751 | ||||||
| chr18:44970837
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4000+17497G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970837 | ||||||
| chr18:44970847
|
G | A | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4000+17507G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970847 | ||||||
| chr18:44970878
|
T | A | 17 | a0003c0003t0001g0047a0003c0003t0001g0063a0003c0003t0001g0082others(14): Show | 17 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.4000+17538T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44970878 | ||||||
| chr18:44971201
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+17861G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971201 | ||||||
| chr18:44971475
|
A | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+18135A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971475 | ||||||
| chr18:44971483
|
C | G | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+18143C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971483 | ||||||
| chr18:44971575
|
G | T | 42 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 42 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.4000+18235G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971575 | ||||||
| chr18:44971682
|
A | T | 5 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0028others(2): Show | 5 | HG01192.hp1 HG02040.hp2 HG02132.hp2 others(2): Show |
intron_variant | MODIFIER | c.4000+18342A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971682 | ||||||
| chr18:44971770
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4000+18430C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971770 | ||||||
| chr18:44971776
|
G | A | 1 | a0003c0003t0002g0014 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.4000+18436G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971776 | ||||||
| chr18:44971869
|
T | C | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 59 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(56): Show |
intron_variant | MODIFIER | c.4000+18529T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44971869 | ||||||
| chr18:44972072
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4000+18732C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972072 | ||||||
| chr18:44972142
|
C | G | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4000+18802C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972142 | ||||||
| chr18:44972151
|
A | G | 5 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0028others(2): Show | 5 | HG01192.hp1 HG02040.hp2 HG02132.hp2 others(2): Show |
intron_variant | MODIFIER | c.4000+18811A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972151 | ||||||
| chr18:44972210
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4000+18870G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972210 | ||||||
| chr18:44972606
|
G | A | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4000+19266G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972606 | ||||||
| chr18:44972880
|
A | C | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4000+19540A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44972880 | ||||||
| chr18:44973045
|
C | T | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+19705C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973045 | ||||||
| chr18:44973067
|
T | C | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+19727T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973067 | ||||||
| chr18:44973129
|
G | C | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+19789G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973129 | ||||||
| chr18:44973141
|
G | T | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+19801G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973141 | ||||||
| chr18:44973271
|
C | T | 4 | a0003c0003t0001g0047a0003c0003t0002g0014a0003c0003t0018g0011others(1): Show | 4 | HG01258.hp1 HG02004.hp1 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+19931C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973271 | ||||||
| chr18:44973300
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4000+19960T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973300 | ||||||
| chr18:44973385
|
A | G | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 59 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(56): Show |
intron_variant | MODIFIER | c.4000+20045A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973385 | ||||||
| chr18:44973441
|
T | C | 133 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(130): Show | 133 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
intron_variant | MODIFIER | c.4000+20101T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973441 | ||||||
| chr18:44973858
|
G | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0009g0027 | 3 | HG02572.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4000+20518G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973858 | ||||||
| chr18:44973869
|
A | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0009g0027 | 3 | HG02572.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4000+20529A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973869 | ||||||
| chr18:44973893
|
G | A | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+20553G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973893 | ||||||
| chr18:44973901
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4000+20561G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44973901 | ||||||
| chr18:44974617
|
G | A | 2 | a0001c0001t0002g0066a0011c0013t0021g0090 | 2 | HG01255.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4000+21277G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44974617 | ||||||
| chr18:44974706
|
A | G | 17 | a0001c0001t0002g0066a0001c0001t0009g0077a0004c0004t0001g0003others(14): Show | 17 | HG00438.hp2 HG01071.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.4000+21366A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44974706 | ||||||
| chr18:44974897
|
A | G | 1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4000+21557A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44974897 | ||||||
| chr18:44974925
|
T | C | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.4000+21585T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44974925 | ||||||
| chr18:44975631
|
T | G | 1 | a0003c0003t0008g0051 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4000+22291T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44975631 | ||||||
| chr18:44975673
|
T | A | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 59 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(56): Show |
intron_variant | MODIFIER | c.4000+22333T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44975673 | ||||||
| chr18:44975866
|
G | T | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4000+22526G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44975866 | ||||||
| chr18:44975916
|
A | G | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4000+22576A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44975916 | ||||||
| chr18:44976073
|
T | TAC | 8 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0044others(5): Show | 8 | HG01192.hp1 HG02630.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.4000+22775_4000+22 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
T | TACAC | 23 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0028others(20): Show | 23 | HG00438.hp2 HG01071.hp1 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.4000+22773_4000+22 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
T | TACACAC | 10 | a0001c0001t0001g0065a0001c0001t0001g0088a0001c0001t0002g0039others(7): Show | 10 | HG00099.hp2 HG00741.hp1 HG01070.hp2 others(7): Show |
intron_variant | MODIFIER | c.4000+22771_4000+22 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
T | TACACACA others(1): Show |
2 | a0001c0001t0001g0099a0001c0001t0010g0131 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4000+22769_4000+22 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
T | TACACACA others(3): Show |
1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4000+22767_4000+22 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
TAC | T | 14 | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0076others(11): Show | 14 | HG00639.hp1 HG01255.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.4000+22775_4000+22 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
TACAC | T | 62 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(59): Show | 62 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(59): Show |
intron_variant | MODIFIER | c.4000+22773_4000+22 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
TACACAC | T | 6 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(3): Show | 6 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+22771_4000+22 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
TACACACA others(1): Show |
T | 4 | a0001c0001t0001g0055a0001c0001t0002g0094a0001c0012t0003g0069others(1): Show | 4 | HG00438.hp1 HG01496.hp1 HG02083.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+22769_4000+22 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976073
|
TACACACA others(3): Show |
T | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+22767_4000+22 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44976073 | |||||
| chr18:44976542
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+23202G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44976542 | ||||||
| chr18:44976586
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+23246G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44976586 | ||||||
| chr18:44977028
|
G | A | 2 | a0001c0001t0001g0034a0001c0001t0009g0027 | 2 | HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4000+23688G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977028 | ||||||
| chr18:44977053
|
A | G | 13 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(10): Show | 13 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.4000+23713A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977053 | ||||||
| chr18:44977162
|
T | A | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4000+23822T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977162 | ||||||
| chr18:44977163
|
G | A | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4000+23823G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977163 | ||||||
| chr18:44977164
|
T | C | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4000+23824T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977164 | ||||||
| chr18:44977398
|
C | T | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+24058C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977398 | ||||||
| chr18:44977570
|
T | A | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(38): Show | 41 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.4000+24230T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977570 | ||||||
| chr18:44977952
|
G | A | 1 | a0002c0002t0001g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4000+24612G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977952 | ||||||
| chr18:44977953
|
G | C | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+24613G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44977953 | ||||||
| chr18:44978036
|
A | G | 2 | a0001c0001t0001g0021a0001c0001t0001g0120 | 2 | HG00099.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.4000+24696A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978036 | ||||||
| chr18:44978066
|
T | C | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4000+24726T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978066 | ||||||
| chr18:44978219
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4000+24879G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978219 | ||||||
| chr18:44978255
|
T | C | 133 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(130): Show | 133 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
intron_variant | MODIFIER | c.4000+24915T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978255 | ||||||
| chr18:44978427
|
A | G | 2 | a0003c0003t0008g0009a0003c0003t0008g0051 | 2 | HG00735.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4000+25087A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978427 | ||||||
| chr18:44978801
|
T | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+25461T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978801 | ||||||
| chr18:44978802
|
G | A | 137 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
intron_variant | MODIFIER | c.4000+25462G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978802 | ||||||
| chr18:44978955
|
G | A | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+25615G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978955 | ||||||
| chr18:44978971
|
C | T | 13 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(10): Show | 13 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.4000+25631C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44978971 | ||||||
| chr18:44979397
|
G | A | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4000+26057G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44979397 | ||||||
| chr18:44980151
|
T | C | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4000+26811T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44980151 | ||||||
| chr18:44980156
|
T | G | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+26816T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44980156 | ||||||
| chr18:44980405
|
G | A | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(55): Show | 58 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.4000+27065G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44980405 | ||||||
| chr18:44980484
|
TA | T | 8 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0037others(5): Show | 8 | HG02572.hp2 HG02809.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.4000+27158delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44980484 | |||||
| chr18:44980832
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+27492A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44980832 | ||||||
| chr18:44982209
|
A | G | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(38): Show | 41 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.4000+28869A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44982209 | ||||||
| chr18:44982649
|
A | T | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.4000+29309A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44982649 | ||||||
| chr18:44982946
|
T | G | 11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+29606T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44982946 | ||||||
| chr18:44983022
|
C | T | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(38): Show | 41 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.4000+29682C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983022 | ||||||
| chr18:44983064
|
A | G | 1 | a0001c0001t0001g0137 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4000+29724A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983064 | ||||||
| chr18:44983330
|
T | C | 1 | a0002c0002t0005g0107 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4000+29990T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983330 | ||||||
| chr18:44983506
|
T | C | 1 | a0001c0001t0001g0030 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4000+30166T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983506 | ||||||
| chr18:44983509
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4000+30169C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983509 | ||||||
| chr18:44983681
|
T | G | 13 | a0004c0004t0001g0003a0004c0004t0001g0004a0004c0004t0001g0019others(10): Show | 13 | HG00438.hp2 HG01071.hp1 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.4000+30341T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44983681 | ||||||
| chr18:44984020
|
G | GTGAA | 15 | a0001c0001t0002g0066a0004c0004t0001g0003a0004c0004t0001g0004others(12): Show | 15 | HG00438.hp2 HG01071.hp1 HG01255.hp2 others(12): Show |
intron_variant | MODIFIER | c.4000+30681_4000+30 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44984020 | |||||
| chr18:44984062
|
G | A | 4 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0002g0094others(1): Show | 4 | HG00438.hp1 HG02083.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+30722G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44984062 | ||||||
| chr18:44984133
|
A | AGAGGTTG others(9): Show |
11 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+30803_4000+30 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44984133 | |||||
| chr18:44984404
|
G | T | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(55): Show | 58 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.4000+31064G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44984404 | ||||||
| chr18:44985119
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4000+31779C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44985119 | ||||||
| chr18:44985184
|
C | T | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(55): Show | 58 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.4000+31844C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44985184 | ||||||
| chr18:44985296
|
C | T | 2 | a0001c0001t0001g0055a0001c0001t0002g0094 | 2 | HG00438.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.4000+31956C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44985296 | ||||||
| chr18:44985871
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4000+32531T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44985871 | ||||||
| chr18:44986006
|
G | A | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(55): Show | 58 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(55): Show |
intron_variant | MODIFIER | c.4000+32666G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986006 | ||||||
| chr18:44986322
|
C | T | 16 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0049others(13): Show | 16 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(13): Show |
intron_variant | MODIFIER | c.4000+32982C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986322 | ||||||
| chr18:44986618
|
AT | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.4000+33292delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986618 | |||||
| chr18:44986708
|
A | C | 60 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(57): Show | 60 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(57): Show |
intron_variant | MODIFIER | c.4000+33368A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986708 | ||||||
| chr18:44986895
|
G | GATAGT | 8 | a0001c0001t0002g0010a0001c0001t0003g0037a0001c0001t0006g0092others(5): Show | 8 | HG01255.hp2 HG01261.hp2 HG02080.hp1 others(5): Show |
intron_variant | MODIFIER | c.4000+33555_4000+33 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986895 | ||||||
| chr18:44986895
|
G | GATAGTAT others(3): Show |
1 | a0004c0004t0007g0070 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.4000+33555_4000+33 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986895 | ||||||
| chr18:44986895
|
GTTAGT | G | 16 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0044others(13): Show | 16 | HG00438.hp2 HG00741.hp1 HG01192.hp1 others(13): Show |
intron_variant | MODIFIER | c.4000+33556_4000+33 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986895 | ||||||
| chr18:44986895
|
GTTAGTAT others(3): Show |
G | 3 | a0001c0001t0001g0034a0001c0001t0009g0027a0004c0004t0001g0085 | 3 | HG03195.hp2 HG03579.hp2 NA18963.hp1 |
intron_variant | MODIFIER | c.4000+33556_4000+33 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986895 | ||||||
| chr18:44986896
|
T | A | 22 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0028others(19): Show | 22 | HG00099.hp2 HG01071.hp1 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.4000+33556T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986896 | ||||||
| chr18:44986896
|
T | TTAGTA | 6 | a0001c0001t0001g0126a0001c0001t0001g0132a0001c0001t0024g0108others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.4000+33598_4000+33 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986896 | |||||
| chr18:44986918
|
AGTATAGT others(18): Show |
A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+33583_4000+33 others(31): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986918 | |||||
| chr18:44986923
|
AGTATAGT others(13): Show |
A | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4000+33588_4000+33 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986923 | |||||
| chr18:44986928
|
AGTATAGT others(8): Show |
A | 60 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0021others(57): Show | 60 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(57): Show |
intron_variant | MODIFIER | c.4000+33593_4000+33 others(21): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986928 | |||||
| chr18:44986933
|
AGTATAGT others(3): Show |
A | 14 | a0001c0001t0001g0016a0001c0001t0001g0140a0001c0001t0003g0057others(11): Show | 14 | HG00741.hp2 HG01192.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4000+33598_4000+33 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986933 | |||||
| chr18:44986938
|
AGTATT | A | 10 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0029others(7): Show | 10 | HG01167.hp2 HG01192.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.4000+33617_4000+33 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986938 | |||||
| chr18:44986938
|
AGTATTGT others(3): Show |
A | 1 | a0001c0001t0002g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4000+33612_4000+33 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44986938 | |||||
| chr18:44986943
|
T | A | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0028others(43): Show | 46 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.4000+33603T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986943 | ||||||
| chr18:44986948
|
T | A | 2 | a0001c0001t0003g0001a0001c0001t0003g0059 | 2 | HG02109.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.4000+33608T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986948 | ||||||
| chr18:44986965
|
A | G | 4 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(1): Show | 4 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+33625A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44986965 | ||||||
| chr18:44987211
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+33871G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44987211 | ||||||
| chr18:44987542
|
G | T | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4000+34202G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44987542 | ||||||
| chr18:44987765
|
C | T | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+34425C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44987765 | ||||||
| chr18:44987859
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+34519T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44987859 | ||||||
| chr18:44988034
|
T | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+34694T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44988034 | ||||||
| chr18:44988807
|
C | CAGTAACC others(4): Show |
1 | a0001c0001t0025g0042 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.4000+35470_4000+35 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44988807 | |||||
| chr18:44989325
|
C | G | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+35985C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989325 | ||||||
| chr18:44989485
|
C | T | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+36145C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989485 | ||||||
| chr18:44989685
|
C | T | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+36345C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989685 | ||||||
| chr18:44989686
|
G | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(7): Show | 10 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.4000+36346G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989686 | ||||||
| chr18:44989704
|
C | A | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4000+36364C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989704 | ||||||
| chr18:44989708
|
A | C | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+36368A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989708 | ||||||
| chr18:44989868
|
C | CA | 5 | a0001c0005t0001g0111a0001c0005t0002g0115a0001c0005t0020g0072others(2): Show | 5 | HG01981.hp1 HG01981.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.4000+36567dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989868
|
C | CAAAAAAA others(2): Show |
7 | a0003c0003t0001g0109a0003c0003t0008g0009a0003c0003t0008g0051others(4): Show | 7 | HG00639.hp2 HG00735.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.4000+36559_4000+36 others(15): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989868
|
C | CAAAAAAA others(3): Show |
3 | a0001c0005t0001g0112a0003c0003t0001g0047a0007c0008t0002g0080 | 3 | HG02004.hp1 HG02004.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.4000+36558_4000+36 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989868
|
C | CAAAAAAA others(8): Show |
1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4000+36553_4000+36 others(21): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989868
|
C | CAAAAAAA others(9): Show |
2 | a0003c0003t0001g0082a0003c0003t0001g0083 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.4000+36552_4000+36 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989868
|
C | CAAAAAAA others(14): Show |
1 | a0003c0003t0001g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4000+36547_4000+36 others(27): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989868 | |||||
| chr18:44989879
|
AAAAAAAA others(22): Show |
A | 1 | a0001c0001t0001g0122 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4000+36540_4000+36 others(35): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989879 | ||||||
| chr18:44989885
|
AAAAAAAA others(16): Show |
A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4000+36546_4000+36 others(29): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989885 | ||||||
| chr18:44989886
|
AAAAAAAA others(15): Show |
A | 2 | a0001c0001t0003g0037a0005c0006t0022g0089 | 2 | HG02809.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.4000+36547_4000+36 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989886 | ||||||
| chr18:44989888
|
AAAAAAAA others(13): Show |
A | 1 | a0001c0001t0001g0061 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4000+36549_4000+36 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989888 | ||||||
| chr18:44989889
|
AAAAAAAA others(12): Show |
A | 3 | a0001c0001t0001g0076a0001c0001t0001g0137a0001c0001t0003g0100 | 3 | HG02630.hp2 HG02886.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4000+36550_4000+36 others(25): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989889 | ||||||
| chr18:44989891
|
AAAAAAAA others(10): Show |
A | 2 | a0003c0003t0002g0014a0004c0004t0001g0119 | 2 | HG01258.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.4000+36552_4000+36 others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989891 | ||||||
| chr18:44989892
|
AAAAAAAA others(9): Show |
A | 1 | a0003c0003t0002g0116 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.4000+36553_4000+36 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989892 | ||||||
| chr18:44989894
|
AAAAAAAA others(7): Show |
A | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4000+36555_4000+36 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989894 | ||||||
| chr18:44989897
|
AAAAAAAA others(4): Show |
A | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0059others(3): Show | 6 | HG02572.hp1 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+36558_4000+36 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989897 | ||||||
| chr18:44989898
|
AAAAAAAA others(3): Show |
A | 2 | a0001c0001t0003g0001a0008c0011t0004g0124 | 2 | HG02109.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+36559_4000+36 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989898 | ||||||
| chr18:44989901
|
AAAAAAAT | A | 8 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0001g0098others(5): Show | 8 | HG01192.hp1 HG02080.hp1 HG02083.hp2 others(5): Show |
intron_variant | MODIFIER | c.4000+36562_4000+36 others(13): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989901 | ||||||
| chr18:44989902
|
AAAAAAT | A | 10 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0028others(7): Show | 10 | HG00741.hp1 HG01175.hp1 HG02132.hp2 others(7): Show |
intron_variant | MODIFIER | c.4000+36563_4000+36 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989902 | ||||||
| chr18:44989903
|
AAAAAT | A | 11 | a0001c0001t0005g0138a0004c0004t0001g0003a0004c0004t0001g0004others(8): Show | 11 | HG01255.hp2 HG01496.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+36564_4000+36 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989903 | ||||||
| chr18:44989904
|
AAAAT | A | 5 | a0001c0001t0001g0034a0001c0001t0006g0092a0001c0001t0009g0027others(2): Show | 5 | HG00438.hp2 HG01261.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.4000+36565_4000+36 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989904 | ||||||
| chr18:44989905
|
AAAT | A | 10 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(7): Show | 10 | HG00099.hp1 HG00140.hp2 HG01070.hp1 others(7): Show |
intron_variant | MODIFIER | c.4000+36566_4000+36 others(9): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989905 | ||||||
| chr18:44989906
|
AAT | A | 16 | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0065others(13): Show | 16 | HG00140.hp1 HG00741.hp2 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.4000+36567_4000+36 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989906 | ||||||
| chr18:44989907
|
AT | A | 16 | a0001c0001t0001g0040a0001c0001t0001g0055a0001c0001t0001g0068others(13): Show | 16 | HG00438.hp1 HG00639.hp1 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.4000+36570delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44989907 | |||||
| chr18:44989908
|
T | A | 33 | a0001c0001t0001g0049a0001c0001t0001g0091a0001c0001t0001g0097others(30): Show | 33 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.4000+36568T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44989908 | ||||||
| chr18:44990281
|
G | A | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+36941G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990281 | ||||||
| chr18:44990410
|
A | G | 39 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.4000+37070A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990410 | ||||||
| chr18:44990553
|
C | T | 3 | a0001c0001t0001g0065a0002c0002t0001g0012a0002c0002t0001g0121 | 3 | HG02165.hp1 HG03710.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4000+37213C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990553 | ||||||
| chr18:44990563
|
G | A | 4 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(1): Show | 4 | HG02109.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4000+37223G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990563 | ||||||
| chr18:44990580
|
A | C | 1 | a0005c0006t0003g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4000+37240A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990580 | ||||||
| chr18:44990594
|
AAAAC | A | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(43): Show | 46 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(43): Show |
intron_variant | MODIFIER | c.4000+37278_4000+37 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44990594 | |||||
| chr18:44990645
|
A | G | 39 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.4000+37305A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990645 | ||||||
| chr18:44990676
|
C | G | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4000+37336C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990676 | ||||||
| chr18:44990756
|
T | C | 3 | a0001c0001t0001g0065a0002c0002t0001g0012a0002c0002t0001g0121 | 3 | HG02165.hp1 HG03710.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4000+37416T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44990756 | ||||||
| chr18:44990927
|
GA | G | 11 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(8): Show | 11 | HG01074.hp1 HG02109.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.4000+37607delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44990927 | |||||
| chr18:44991037
|
G | C | 18 | a0001c0005t0001g0112a0003c0003t0001g0047a0003c0003t0001g0063others(15): Show | 18 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(15): Show |
intron_variant | MODIFIER | c.4000+37697G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991037 | ||||||
| chr18:44991113
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4000+37773G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991113 | ||||||
| chr18:44991167
|
C | G | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+37827C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991167 | ||||||
| chr18:44991211
|
C | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4000+37871C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991211 | ||||||
| chr18:44991214
|
G | A | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4000+37874G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991214 | ||||||
| chr18:44991244
|
C | CA | 9 | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0001g0097others(6): Show | 9 | HG00438.hp1 HG00735.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.4000+37926dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44991244 | |||||
| chr18:44991244
|
CA | C | 10 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0120others(7): Show | 10 | HG00099.hp1 HG01934.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.4000+37926delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44991244 | |||||
| chr18:44991244
|
CAA | C | 34 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(31): Show | 34 | HG00438.hp2 HG00741.hp1 HG01071.hp1 others(31): Show |
intron_variant | MODIFIER | c.4000+37925_4000+37 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44991244 | |||||
| chr18:44991944
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4000+38604A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991944 | ||||||
| chr18:44991965
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4000+38625G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44991965 | ||||||
| chr18:44992068
|
C | A | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+38728C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44992068 | ||||||
| chr18:44992242
|
G | A | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+38902G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44992242 | ||||||
| chr18:44992586
|
C | T | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.4000+39246C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44992586 | ||||||
| chr18:44992710
|
T | C | 39 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.4000+39370T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44992710 | ||||||
| chr18:44992735
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4000+39395G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44992735 | ||||||
| chr18:44993185
|
T | C | 137 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
intron_variant | MODIFIER | c.4000+39845T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44993185 | ||||||
| chr18:44993412
|
T | C | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+40072T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44993412 | ||||||
| chr18:44993719
|
C | G | 1 | a0002c0002t0001g0073 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4000+40379C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44993719 | ||||||
| chr18:44993878
|
A | G | 2 | a0001c0001t0001g0097a0001c0001t0015g0015 | 2 | HG00639.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.4000+40538A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44993878 | ||||||
| chr18:44994001
|
A | G | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4000+40661A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994001 | ||||||
| chr18:44994191
|
A | G | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4000+40851A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994191 | ||||||
| chr18:44994205
|
T | C | 1 | a0007c0008t0002g0086 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4000+40865T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994205 | ||||||
| chr18:44994257
|
C | A | 134 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(131): Show | 134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.4000+40917C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994257 | ||||||
| chr18:44994296
|
T | A | 39 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.4000+40956T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994296 | ||||||
| chr18:44994640
|
G | C | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4000+41300G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994640 | ||||||
| chr18:44994952
|
T | C | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4000+41612T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44994952 | ||||||
| chr18:44995112
|
T | C | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4000+41772T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995112 | ||||||
| chr18:44995114
|
G | A | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+41774G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995114 | ||||||
| chr18:44995135
|
C | CT | 12 | a0001c0001t0001g0049a0001c0001t0001g0091a0001c0001t0001g0099others(9): Show | 12 | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.4000+41819dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995135 | |||||
| chr18:44995135
|
CT | C | 6 | a0001c0001t0001g0002a0001c0001t0003g0100a0001c0001t0005g0087others(3): Show | 6 | HG02055.hp1 HG02572.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.4000+41819delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995135 | |||||
| chr18:44995135
|
CTT | C | 30 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(27): Show | 30 | HG00099.hp2 HG00741.hp1 HG01175.hp1 others(27): Show |
intron_variant | MODIFIER | c.4000+41818_4000+41 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995135 | |||||
| chr18:44995135
|
CTTT | C | 24 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(21): Show | 24 | HG00438.hp2 HG01071.hp1 HG01167.hp2 others(21): Show |
intron_variant | MODIFIER | c.4000+41817_4000+41 others(9): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995135 | |||||
| chr18:44995228
|
G | A | 2 | a0004c0004t0001g0054a0004c0015t0004g0036 | 2 | NA18964.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.4000+41888G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995228 | ||||||
| chr18:44995332
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.4000+41992A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995332 | ||||||
| chr18:44995352
|
A | G | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+42012A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995352 | ||||||
| chr18:44995356
|
C | T | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+42016C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995356 | ||||||
| chr18:44995362
|
T | C | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+42022T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995362 | ||||||
| chr18:44995436
|
C | T | 6 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(3): Show | 6 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4000+42096C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995436 | ||||||
| chr18:44995526
|
CT | C | 2 | a0003c0003t0011g0064a0004c0004t0001g0119 | 2 | HG02080.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.4000+42190delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995526 | |||||
| chr18:44995529
|
T | TTG | 21 | a0001c0001t0001g0018a0001c0001t0001g0065a0001c0001t0001g0088others(18): Show | 21 | HG00140.hp1 HG00438.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.4000+42233_4000+42 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
T | TTGTG | 10 | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(7): Show | 10 | HG00140.hp2 HG01074.hp2 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.4000+42231_4000+42 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
T | TTGTGTG | 16 | a0001c0001t0001g0016a0001c0001t0001g0091a0001c0001t0001g0097others(13): Show | 16 | HG00735.hp2 HG02523.hp2 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.4000+42229_4000+42 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
T | TTGTGTGT others(1): Show |
5 | a0001c0001t0001g0068a0001c0001t0005g0087a0001c0001t0015g0015others(2): Show | 5 | HG00639.hp1 HG00741.hp2 HG01192.hp2 others(2): Show |
intron_variant | MODIFIER | c.4000+42227_4000+42 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
TTG | T | 39 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(36): Show | 39 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.4000+42233_4000+42 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
TTGTG | T | 3 | a0001c0001t0002g0010a0003c0003t0018g0011a0006c0007t0023g0062 | 3 | NA18964.hp1 NA19000.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.4000+42231_4000+42 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
TTGTGTG | T | 5 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.4000+42229_4000+42 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995529
|
TTGTGTGT others(3): Show |
T | 2 | a0001c0010t0007g0058a0001c0010t0007g0113 | 2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4000+42225_4000+42 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 44995529 | |||||
| chr18:44995531
|
G | T | 5 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0096others(2): Show | 5 | HG01167.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4000+42191G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995531 | ||||||
| chr18:44995533
|
G | T | 5 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0096others(2): Show | 5 | HG01167.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4000+42193G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995533 | ||||||
| chr18:44995573
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.4000+42233G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995573 | ||||||
| chr18:44995696
|
C | G | 72 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.4000+42356C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995696 | ||||||
| chr18:44995716
|
G | A | 13 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(10): Show | 13 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.4000+42376G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995716 | ||||||
| chr18:44995909
|
A | G | 1 | a0007c0008t0002g0086 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4000+42569A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44995909 | ||||||
| chr18:44996031
|
T | G | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-42454T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996031 | ||||||
| chr18:44996305
|
C | T | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-42180C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996305 | ||||||
| chr18:44996307
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-42178G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996307 | ||||||
| chr18:44996403
|
G | A | 7 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0037others(4): Show | 7 | HG02572.hp2 HG02809.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-42082G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996403 | ||||||
| chr18:44996617
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4001-41868C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996617 | ||||||
| chr18:44996655
|
G | A | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(54): Show | 57 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.4001-41830G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996655 | ||||||
| chr18:44996906
|
C | T | 2 | a0004c0004t0001g0119a0006c0007t0023g0062 | 2 | NA18989.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.4001-41579C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44996906 | ||||||
| chr18:44997045
|
G | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(7): Show | 10 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.4001-41440G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44997045 | ||||||
| chr18:44997526
|
A | G | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-40959A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44997526 | ||||||
| chr18:44997974
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-40511A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44997974 | ||||||
| chr18:44998001
|
A | G | 37 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(34): Show | 37 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.4001-40484A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998001 | ||||||
| chr18:44998115
|
G | T | 1 | a0001c0001t0002g0066 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4001-40370G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998115 | ||||||
| chr18:44998118
|
G | A | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(38): Show | 41 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.4001-40367G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998118 | ||||||
| chr18:44998180
|
C | T | 4 | a0001c0009t0002g0106a0001c0009t0002g0133a0002c0002t0002g0043others(1): Show | 4 | HG01934.hp2 HG02572.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-40305C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998180 | ||||||
| chr18:44998209
|
A | G | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4001-40276A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998209 | ||||||
| chr18:44998603
|
C | G | 1 | a0001c0001t0001g0137 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4001-39882C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998603 | ||||||
| chr18:44998738
|
A | T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-39747A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44998738 | ||||||
| chr18:44999000
|
G | A | 2 | a0001c0001t0001g0117a0002c0002t0001g0136 | 2 | HG01074.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.4001-39485G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999000 | ||||||
| chr18:44999043
|
T | G | 1 | a0001c0001t0001g0017 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4001-39442T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999043 | ||||||
| chr18:44999294
|
C | T | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-39191C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999294 | ||||||
| chr18:44999628
|
C | T | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-38857C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999628 | ||||||
| chr18:44999727
|
C | A | 4 | a0001c0009t0002g0106a0001c0009t0002g0133a0002c0002t0002g0043others(1): Show | 4 | HG01934.hp2 HG02572.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-38758C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999727 | ||||||
| chr18:44999804
|
C | T | 1 | a0003c0003t0017g0052 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.4001-38681C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999804 | ||||||
| chr18:44999855
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4001-38630C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999855 | ||||||
| chr18:44999973
|
G | A | 21 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0021others(18): Show | 21 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(18): Show |
intron_variant | MODIFIER | c.4001-38512G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 44999973 | ||||||
| chr18:45000053
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-38432C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45000053 | ||||||
| chr18:45000148
|
T | C | 2 | a0001c0010t0007g0058a0001c0010t0007g0113 | 2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4001-38337T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45000148 | ||||||
| chr18:45000407
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0009g0027 | 3 | HG02572.hp2 HG03195.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4001-38078C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45000407 | ||||||
| chr18:45000793
|
A | AAC | 6 | a0001c0001t0003g0059a0001c0001t0004g0006a0001c0001t0005g0079others(3): Show | 6 | HG00741.hp2 HG01934.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.4001-37661_4001-37 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACAC | 34 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(31): Show | 34 | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.4001-37663_4001-37 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACACAC | 38 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0046others(35): Show | 38 | HG00099.hp2 HG00438.hp2 HG00639.hp1 others(35): Show |
intron_variant | MODIFIER | c.4001-37665_4001-37 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACACACA others(1): Show |
38 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(35): Show | 38 | HG00140.hp1 HG00438.hp1 HG00741.hp1 others(35): Show |
intron_variant | MODIFIER | c.4001-37667_4001-37 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACACACA others(3): Show |
15 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0049others(12): Show | 15 | HG01071.hp1 HG01167.hp2 HG01255.hp1 others(12): Show |
intron_variant | MODIFIER | c.4001-37669_4001-37 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACACACA others(5): Show |
1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-37671_4001-37 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000793
|
A | AACACACA others(7): Show |
1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4001-37673_4001-37 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45000793 | |||||
| chr18:45000979
|
G | A | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4001-37506G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45000979 | ||||||
| chr18:45001370
|
A | G | 1 | a0002c0002t0005g0107 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4001-37115A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45001370 | ||||||
| chr18:45002291
|
A | AT | 37 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(34): Show | 37 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.4001-36178dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45002291 | |||||
| chr18:45002345
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(42): Show | 45 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.4001-36140G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002345 | ||||||
| chr18:45002564
|
C | T | 4 | a0001c0001t0024g0108a0001c0005t0001g0084a0001c0005t0002g0031others(1): Show | 4 | HG01255.hp1 HG02109.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-35921C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002564 | ||||||
| chr18:45002576
|
T | A | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-35909T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002576 | ||||||
| chr18:45002660
|
G | A | 3 | a0001c0005t0001g0084a0001c0005t0002g0031a0001c0005t0020g0072 | 3 | HG01255.hp1 HG02109.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4001-35825G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002660 | ||||||
| chr18:45002789
|
G | A | 4 | a0001c0009t0002g0106a0001c0009t0002g0133a0002c0002t0002g0043others(1): Show | 4 | HG01934.hp2 HG02572.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-35696G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002789 | ||||||
| chr18:45002839
|
T | C | 2 | a0001c0001t0001g0005a0001c0001t0001g0044 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4001-35646T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45002839 | ||||||
| chr18:45003087
|
C | T | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4001-35398C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003087 | ||||||
| chr18:45003199
|
C | T | 1 | a0001c0001t0002g0102 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.4001-35286C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003199 | ||||||
| chr18:45003228
|
T | A | 51 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(48): Show | 51 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(48): Show |
intron_variant | MODIFIER | c.4001-35257T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003228 | ||||||
| chr18:45003317
|
G | C | 3 | a0001c0001t0001g0099a0002c0002t0001g0074a0002c0002t0001g0081 | 3 | HG02717.hp1 HG03486.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4001-35168G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003317 | ||||||
| chr18:45003553
|
A | G | 51 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(48): Show | 51 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(48): Show |
intron_variant | MODIFIER | c.4001-34932A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003553 | ||||||
| chr18:45003603
|
T | G | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4001-34882T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003603 | ||||||
| chr18:45003657
|
T | A | 1 | a0001c0001t0001g0040 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4001-34828T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003657 | ||||||
| chr18:45003687
|
GA | G | 44 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0028others(41): Show | 44 | HG00438.hp2 HG00741.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.4001-34782delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45003687 | |||||
| chr18:45003687
|
GAA | G | 5 | a0001c0001t0001g0126a0001c0001t0002g0039a0001c0001t0002g0129others(2): Show | 5 | HG00099.hp2 HG02109.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-34783_4001-34 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45003687 | |||||
| chr18:45003703
|
A | C | 1 | a0001c0001t0001g0017 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4001-34782A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003703 | ||||||
| chr18:45003726
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4001-34759T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003726 | ||||||
| chr18:45003870
|
G | A | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-34615G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003870 | ||||||
| chr18:45003900
|
C | T | 1 | a0001c0001t0001g0134 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.4001-34585C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45003900 | ||||||
| chr18:45004223
|
C | T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-34262C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004223 | ||||||
| chr18:45004376
|
G | T | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.4001-34109G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004376 | ||||||
| chr18:45004377
|
A | G | 1 | a0001c0001t0005g0087 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.4001-34108A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004377 | ||||||
| chr18:45004512
|
T | G | 10 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(7): Show | 10 | HG01255.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.4001-33973T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004512 | ||||||
| chr18:45004556
|
A | G | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-33929A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004556 | ||||||
| chr18:45004798
|
G | A | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4001-33687G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45004798 | ||||||
| chr18:45005133
|
T | C | 2 | a0001c0001t0001g0065a0002c0002t0001g0121 | 2 | HG03710.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4001-33352T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005133 | ||||||
| chr18:45005576
|
A | G | 3 | a0001c0005t0001g0084a0001c0005t0002g0031a0001c0005t0020g0072 | 3 | HG01255.hp1 HG02109.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4001-32909A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005576 | ||||||
| chr18:45005643
|
C | CT | 10 | a0001c0001t0001g0126a0001c0001t0001g0134a0001c0001t0002g0129others(7): Show | 10 | HG02109.hp2 HG02572.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.4001-32821dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45005643 | |||||
| chr18:45005643
|
CT | C | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(40): Show | 43 | HG00099.hp2 HG00438.hp2 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.4001-32821delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45005643 | |||||
| chr18:45005716
|
G | A | 10 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(7): Show | 10 | HG01255.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.4001-32769G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005716 | ||||||
| chr18:45005792
|
G | A | 37 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(34): Show | 37 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.4001-32693G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005792 | ||||||
| chr18:45005796
|
G | A | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(38): Show | 41 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(38): Show |
intron_variant | MODIFIER | c.4001-32689G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005796 | ||||||
| chr18:45005808
|
G | A | 4 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-32677G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005808 | ||||||
| chr18:45005930
|
G | A | 1 | a0004c0004t0001g0054 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.4001-32555G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005930 | ||||||
| chr18:45005945
|
C | CT | 28 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0029others(25): Show | 28 | HG00438.hp1 HG00438.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.4001-32514dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45005945 | |||||
| chr18:45005977
|
C | T | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-32508C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45005977 | ||||||
| chr18:45006199
|
A | G | 137 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
intron_variant | MODIFIER | c.4001-32286A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45006199 | ||||||
| chr18:45006272
|
G | A | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4001-32213G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45006272 | ||||||
| chr18:45006759
|
G | A | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-31726G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45006759 | ||||||
| chr18:45006876
|
G | A | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4001-31609G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45006876 | ||||||
| chr18:45007007
|
G | A | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.4001-31478G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45007007 | ||||||
| chr18:45007170
|
G | C | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-31315G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45007170 | ||||||
| chr18:45007332
|
C | T | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4001-31153C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45007332 | ||||||
| chr18:45008082
|
A | G | 4 | a0001c0001t0024g0108a0001c0005t0001g0084a0001c0005t0002g0031others(1): Show | 4 | HG01255.hp1 HG02109.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-30403A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008082 | ||||||
| chr18:45008190
|
A | G | 3 | a0002c0002t0002g0043a0002c0002t0004g0095a0011c0013t0021g0090 | 3 | HG01255.hp2 HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-30295A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008190 | ||||||
| chr18:45008212
|
G | A | 2 | a0004c0004t0001g0024a0006c0007t0002g0114 | 2 | HG01071.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.4001-30273G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008212 | ||||||
| chr18:45008369
|
C | A | 1 | a0001c0001t0002g0118 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.4001-30116C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008369 | ||||||
| chr18:45008865
|
G | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-29620G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008865 | ||||||
| chr18:45008889
|
G | T | 6 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(3): Show | 6 | HG02109.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-29596G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45008889 | ||||||
| chr18:45009429
|
A | T | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-29056A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45009429 | ||||||
| chr18:45009463
|
A | G | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.4001-29022A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45009463 | ||||||
| chr18:45009625
|
C | T | 3 | a0003c0003t0002g0014a0003c0003t0018g0011a0007c0008t0002g0080 | 3 | HG01258.hp1 HG02004.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.4001-28860C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45009625 | ||||||
| chr18:45009737
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4001-28748G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45009737 | ||||||
| chr18:45009749
|
G | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-28736G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45009749 | ||||||
| chr18:45010229
|
C | A | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4001-28256C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45010229 | ||||||
| chr18:45010347
|
T | C | 2 | a0003c0003t0002g0014a0007c0008t0002g0080 | 2 | HG01258.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.4001-28138T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45010347 | ||||||
| chr18:45010380
|
C | T | 2 | a0001c0001t0001g0005a0001c0001t0001g0044 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4001-28105C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45010380 | ||||||
| chr18:45010919
|
T | A | 1 | a0002c0002t0001g0074 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4001-27566T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45010919 | ||||||
| chr18:45010996
|
T | A | 2 | a0001c0001t0001g0021a0001c0001t0001g0120 | 2 | HG00099.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.4001-27489T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45010996 | ||||||
| chr18:45011119
|
T | C | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4001-27366T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45011119 | ||||||
| chr18:45011301
|
T | C | 7 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0117others(4): Show | 7 | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(4): Show |
intron_variant | MODIFIER | c.4001-27184T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45011301 | ||||||
| chr18:45011335
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0071 | 2 | HG02809.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4001-27150A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45011335 | ||||||
| chr18:45011837
|
A | G | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-26648A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45011837 | ||||||
| chr18:45012701
|
T | C | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-25784T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45012701 | ||||||
| chr18:45013187
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4001-25298T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45013187 | ||||||
| chr18:45013434
|
C | CTTTCTTT others(6): Show |
1 | a0001c0001t0001g0132 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.4001-25048_4001-25 others(19): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45013434 | |||||
| chr18:45013434
|
C | CTTTCTTT others(14): Show |
6 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0096others(3): Show | 6 | HG01496.hp1 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-25048_4001-25 others(27): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45013434 | |||||
| chr18:45013434
|
C | CTTTCTTT others(18): Show |
1 | a0001c0001t0001g0067 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.4001-25048_4001-25 others(31): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45013434 | |||||
| chr18:45013500
|
T | C | 63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(60): Show | 63 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(60): Show |
intron_variant | MODIFIER | c.4001-24985T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45013500 | ||||||
| chr18:45013525
|
T | C | 61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(58): Show | 61 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.4001-24960T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45013525 | ||||||
| chr18:45013829
|
C | T | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-24656C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45013829 | ||||||
| chr18:45014025
|
G | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-24460G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45014025 | ||||||
| chr18:45014029
|
GA | G | 61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(58): Show | 61 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.4001-24445delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45014029 | |||||
| chr18:45014315
|
T | C | 12 | a0001c0001t0002g0066a0004c0004t0001g0003a0004c0004t0001g0004others(9): Show | 12 | HG00438.hp2 HG01071.hp1 HG01496.hp2 others(9): Show |
intron_variant | MODIFIER | c.4001-24170T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45014315 | ||||||
| chr18:45014552
|
C | T | 6 | a0001c0001t0002g0129a0001c0001t0003g0001a0001c0001t0003g0059others(3): Show | 6 | HG01934.hp2 HG02109.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.4001-23933C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45014552 | ||||||
| chr18:45014611
|
A | G | 2 | a0001c0001t0001g0134a0012c0014t0001g0104 | 2 | HG02647.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4001-23874A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45014611 | ||||||
| chr18:45014993
|
G | C | 2 | a0004c0004t0001g0004a0004c0004t0002g0078 | 2 | HG02040.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.4001-23492G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45014993 | ||||||
| chr18:45015050
|
G | C | 1 | a0002c0002t0006g0048 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.4001-23435G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015050 | ||||||
| chr18:45015072
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4001-23413G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015072 | ||||||
| chr18:45015081
|
G | A | 2 | a0001c0001t0001g0134a0012c0014t0001g0104 | 2 | HG02647.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4001-23404G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015081 | ||||||
| chr18:45015111
|
G | A | 61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(58): Show | 61 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.4001-23374G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015111 | ||||||
| chr18:45015169
|
G | C | 3 | a0002c0002t0002g0043a0002c0002t0004g0095a0011c0013t0021g0090 | 3 | HG01255.hp2 HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-23316G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015169 | ||||||
| chr18:45015879
|
T | C | 53 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(50): Show | 53 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.4001-22606T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45015879 | ||||||
| chr18:45016031
|
A | G | 42 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(39): Show | 42 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.4001-22454A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016031 | ||||||
| chr18:45016034
|
C | A | 1 | a0011c0013t0021g0090 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.4001-22451C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016034 | ||||||
| chr18:45016081
|
A | G | 3 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137 | 3 | HG02630.hp2 HG02723.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4001-22404A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016081 | ||||||
| chr18:45016286
|
A | G | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-22199A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016286 | ||||||
| chr18:45016718
|
C | T | 6 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0001g0140others(3): Show | 6 | HG02572.hp2 HG02622.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.4001-21767C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016718 | ||||||
| chr18:45016731
|
G | GCA | 9 | a0001c0001t0001g0071a0001c0001t0001g0097a0001c0001t0001g0099others(6): Show | 9 | HG00735.hp1 HG00735.hp2 HG02080.hp2 others(6): Show |
intron_variant | MODIFIER | c.4001-21719_4001-21 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016731
|
G | GCACA | 2 | a0002c0002t0001g0012a0002c0002t0001g0121 | 2 | HG02165.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4001-21721_4001-21 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016731
|
GCA | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0002g0094others(7): Show | 10 | HG02083.hp1 HG02572.hp1 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.4001-21719_4001-21 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016731
|
GCACA | G | 44 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0028others(41): Show | 44 | HG00099.hp2 HG00438.hp2 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.4001-21721_4001-21 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016731
|
GCACACAC others(1): Show |
G | 2 | a0001c0001t0024g0108a0002c0002t0002g0043 | 2 | HG01934.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.4001-21725_4001-21 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016731
|
GCACACAC others(5): Show |
G | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4001-21729_4001-21 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45016731 | |||||
| chr18:45016733
|
A | G | 13 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0040others(10): Show | 13 | HG01167.hp2 HG01255.hp1 HG01496.hp1 others(10): Show |
intron_variant | MODIFIER | c.4001-21752A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016733 | ||||||
| chr18:45016735
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0005g0079others(5): Show | 8 | HG02572.hp1 HG02572.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4001-21750A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016735 | ||||||
| chr18:45016737
|
A | G | 42 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0028others(39): Show | 42 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.4001-21748A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016737 | ||||||
| chr18:45016739
|
A | G | 7 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(4): Show | 7 | HG02109.hp2 HG02647.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.4001-21746A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016739 | ||||||
| chr18:45016741
|
A | G | 5 | a0001c0001t0001g0126a0001c0001t0002g0129a0001c0001t0003g0001others(2): Show | 5 | HG02109.hp2 HG02886.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-21744A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016741 | ||||||
| chr18:45016743
|
A | G | 1 | a0001c0001t0003g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.4001-21742A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016743 | ||||||
| chr18:45016766
|
C | G | 1 | a0001c0001t0001g0060 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.4001-21719C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016766 | ||||||
| chr18:45016808
|
C | T | 1 | a0010c0017t0001g0041 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.4001-21677C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016808 | ||||||
| chr18:45016824
|
C | T | 43 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(40): Show | 43 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.4001-21661C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016824 | ||||||
| chr18:45016942
|
C | T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-21543C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016942 | ||||||
| chr18:45016971
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4001-21514C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45016971 | ||||||
| chr18:45017218
|
C | A | 66 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(63): Show | 66 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(63): Show |
intron_variant | MODIFIER | c.4001-21267C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45017218 | ||||||
| chr18:45017347
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4001-21138G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45017347 | ||||||
| chr18:45017593
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.4001-20892A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45017593 | ||||||
| chr18:45018013
|
C | T | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-20472C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018013 | ||||||
| chr18:45018054
|
G | T | 1 | a0001c0005t0002g0115 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.4001-20431G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018054 | ||||||
| chr18:45018198
|
G | T | 66 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(63): Show | 66 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(63): Show |
intron_variant | MODIFIER | c.4001-20287G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018198 | ||||||
| chr18:45018456
|
C | T | 1 | a0006c0007t0002g0114 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4001-20029C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018456 | ||||||
| chr18:45018462
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(4): Show | 7 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-20023C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018462 | ||||||
| chr18:45018495
|
G | T | 1 | a0006c0007t0023g0062 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.4001-19990G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018495 | ||||||
| chr18:45018498
|
G | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-19987G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018498 | ||||||
| chr18:45018507
|
A | G | 2 | a0001c0001t0005g0138a0001c0012t0003g0069 | 2 | HG01496.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.4001-19978A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018507 | ||||||
| chr18:45018537
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4001-19948G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018537 | ||||||
| chr18:45018623
|
G | A | 66 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(63): Show | 66 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(63): Show |
intron_variant | MODIFIER | c.4001-19862G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018623 | ||||||
| chr18:45018772
|
T | C | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4001-19713T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018772 | ||||||
| chr18:45018827
|
C | T | 19 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0040others(16): Show | 19 | HG00140.hp2 HG00639.hp1 HG00741.hp2 others(16): Show |
intron_variant | MODIFIER | c.4001-19658C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018827 | ||||||
| chr18:45018847
|
A | T | 1 | a0001c0001t0001g0093 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.4001-19638A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45018847 | ||||||
| chr18:45019202
|
G | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-19283G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019202 | ||||||
| chr18:45019272
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(42): Show | 45 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.4001-19213G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019272 | ||||||
| chr18:45019354
|
TA | T | 3 | a0001c0005t0001g0084a0001c0005t0002g0031a0001c0005t0020g0072 | 3 | HG01255.hp1 HG02109.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4001-19130delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019354 | ||||||
| chr18:45019416
|
A | G | 10 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0126others(7): Show | 10 | HG02109.hp2 HG02630.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.4001-19069A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019416 | ||||||
| chr18:45019756
|
A | C | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4001-18729A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019756 | ||||||
| chr18:45019805
|
C | T | 1 | a0003c0003t0011g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4001-18680C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019805 | ||||||
| chr18:45019955
|
A | G | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(42): Show | 45 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.4001-18530A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45019955 | ||||||
| chr18:45020022
|
A | G | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-18463A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020022 | ||||||
| chr18:45020109
|
C | T | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-18376C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020109 | ||||||
| chr18:45020214
|
C | G | 26 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(23): Show | 26 | HG00099.hp2 HG00741.hp1 HG01175.hp1 others(23): Show |
intron_variant | MODIFIER | c.4001-18271C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020214 | ||||||
| chr18:45020219
|
C | T | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4001-18266C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020219 | ||||||
| chr18:45020258
|
T | TA | 26 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068others(23): Show | 26 | HG00140.hp2 HG00735.hp2 HG01074.hp1 others(23): Show |
intron_variant | MODIFIER | c.4001-18190dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(4): Show |
T | 3 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137 | 3 | HG02630.hp2 HG02723.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4001-18200_4001-18 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(5): Show |
T | 5 | a0001c0001t0001g0093a0004c0004t0001g0019a0008c0011t0004g0124others(2): Show | 5 | HG00438.hp2 HG01175.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-18201_4001-18 others(18): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(6): Show |
T | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(42): Show | 45 | HG00099.hp2 HG00741.hp1 HG01071.hp1 others(42): Show |
intron_variant | MODIFIER | c.4001-18202_4001-18 others(19): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(7): Show |
T | 6 | a0001c0001t0024g0108a0001c0005t0001g0084a0001c0005t0002g0031others(3): Show | 6 | HG01255.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.4001-18203_4001-18 others(20): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(9): Show |
T | 1 | a0005c0006t0001g0007 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4001-18205_4001-18 others(22): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020258
|
TAAAAAAA others(10): Show |
T | 2 | a0001c0001t0001g0134a0012c0014t0001g0104 | 2 | HG02647.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4001-18206_4001-18 others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45020258 | |||||
| chr18:45020326
|
A | G | 1 | a0002c0002t0002g0043 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4001-18159A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020326 | ||||||
| chr18:45020545
|
G | A | 2 | a0001c0001t0005g0138a0001c0012t0003g0069 | 2 | HG01496.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.4001-17940G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020545 | ||||||
| chr18:45020657
|
C | G | 1 | a0001c0001t0001g0097 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4001-17828C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020657 | ||||||
| chr18:45020740
|
G | T | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4001-17745G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020740 | ||||||
| chr18:45020809
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-17676T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45020809 | ||||||
| chr18:45021054
|
A | G | 66 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(63): Show | 66 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(63): Show |
intron_variant | MODIFIER | c.4001-17431A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021054 | ||||||
| chr18:45021203
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4001-17282C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021203 | ||||||
| chr18:45021209
|
G | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-17276G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021209 | ||||||
| chr18:45021270
|
C | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-17215C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021270 | ||||||
| chr18:45021345
|
G | C | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-17140G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021345 | ||||||
| chr18:45021473
|
T | C | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-17012T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021473 | ||||||
| chr18:45021744
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.4001-16741C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45021744 | ||||||
| chr18:45021846
|
CA | C | 17 | a0001c0001t0001g0065a0001c0005t0001g0111a0001c0005t0001g0112others(14): Show | 17 | HG00735.hp1 HG01258.hp1 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.4001-16633delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45021846 | |||||
| chr18:45022002
|
C | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-16483C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022002 | ||||||
| chr18:45022003
|
TACTGTTA others(4): Show |
T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-16480_4001-16 others(17): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45022003 | |||||
| chr18:45022016
|
A | T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-16469A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022016 | ||||||
| chr18:45022201
|
G | A | 3 | a0001c0001t0001g0088a0001c0001t0006g0056a0001c0001t0006g0092 | 3 | HG00741.hp1 HG01261.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4001-16284G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022201 | ||||||
| chr18:45022327
|
G | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-16158G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022327 | ||||||
| chr18:45022584
|
C | T | 13 | a0001c0001t0001g0122a0001c0001t0002g0066a0004c0004t0001g0003others(10): Show | 13 | HG00438.hp2 HG01071.hp1 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.4001-15901C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022584 | ||||||
| chr18:45022752
|
G | C | 66 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(63): Show | 66 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(63): Show |
intron_variant | MODIFIER | c.4001-15733G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45022752 | ||||||
| chr18:45023141
|
T | C | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-15344T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023141 | ||||||
| chr18:45023167
|
C | A | 3 | a0001c0005t0001g0084a0001c0005t0002g0031a0001c0005t0020g0072 | 3 | HG01255.hp1 HG02109.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4001-15318C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023167 | ||||||
| chr18:45023507
|
G | A | 3 | a0001c0001t0004g0006a0008c0011t0004g0124a0009c0018t0004g0050 | 3 | HG02647.hp2 HG03486.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.4001-14978G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023507 | ||||||
| chr18:45023595
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-14890G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023595 | ||||||
| chr18:45023768
|
C | T | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-14717C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023768 | ||||||
| chr18:45023926
|
CA | C | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-14557delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45023926 | |||||
| chr18:45023947
|
G | A | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-14538G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023947 | ||||||
| chr18:45023978
|
T | A | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-14507T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45023978 | ||||||
| chr18:45024392
|
T | C | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-14093T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024392 | ||||||
| chr18:45024444
|
C | T | 23 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0030others(20): Show | 23 | HG00140.hp2 HG00639.hp1 HG00741.hp2 others(20): Show |
intron_variant | MODIFIER | c.4001-14041C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024444 | ||||||
| chr18:45024606
|
C | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4001-13879C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024606 | ||||||
| chr18:45024678
|
G | A | 4 | a0001c0001t0004g0006a0002c0002t0002g0043a0002c0002t0004g0095others(1): Show | 4 | HG01934.hp2 HG02647.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-13807G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024678 | ||||||
| chr18:45024679
|
C | A | 4 | a0001c0001t0004g0006a0002c0002t0002g0043a0002c0002t0004g0095others(1): Show | 4 | HG01934.hp2 HG02647.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4001-13806C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024679 | ||||||
| chr18:45024808
|
G | T | 9 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(6): Show | 9 | HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4001-13677G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024808 | ||||||
| chr18:45024882
|
C | T | 1 | a0002c0002t0002g0135 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.4001-13603C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024882 | ||||||
| chr18:45024989
|
G | A | 1 | a0001c0009t0002g0133 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4001-13496G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45024989 | ||||||
| chr18:45025122
|
C | T | 2 | a0003c0003t0001g0047a0003c0003t0001g0139 | 2 | HG01261.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.4001-13363C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45025122 | ||||||
| chr18:45025907
|
C | A | 60 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(57): Show | 60 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(57): Show |
intron_variant | MODIFIER | c.4001-12578C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45025907 | ||||||
| chr18:45026059
|
G | C | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 64 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.4001-12426G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026059 | ||||||
| chr18:45026126
|
C | T | 63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(60): Show | 63 | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(60): Show |
intron_variant | MODIFIER | c.4001-12359C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026126 | ||||||
| chr18:45026256
|
A | C | 1 | a0001c0001t0002g0026 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4001-12229A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026256 | ||||||
| chr18:45026589
|
G | T | 1 | a0001c0001t0001g0013 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4001-11896G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026589 | ||||||
| chr18:45026638
|
G | A | 1 | a0002c0002t0001g0081 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4001-11847G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026638 | ||||||
| chr18:45026720
|
T | C | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4001-11765T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026720 | ||||||
| chr18:45026773
|
C | T | 85 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(82): Show | 85 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
intron_variant | MODIFIER | c.4001-11712C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026773 | ||||||
| chr18:45026793
|
G | T | 38 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0017others(35): Show | 38 | HG00140.hp2 HG00735.hp2 HG01175.hp1 others(35): Show |
intron_variant | MODIFIER | c.4001-11692G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026793 | ||||||
| chr18:45026798
|
A | ATG | 13 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068others(10): Show | 13 | HG00140.hp2 HG01978.hp1 HG01978.hp2 others(10): Show |
intron_variant | MODIFIER | c.4001-11674_4001-11 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45026798 | |||||
| chr18:45026818
|
G | A | 2 | a0002c0002t0002g0043a0002c0002t0004g0095 | 2 | HG01934.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.4001-11667G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026818 | ||||||
| chr18:45026842
|
G | A | 2 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4001-11643G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026842 | ||||||
| chr18:45026851
|
C | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-11634C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026851 | ||||||
| chr18:45026960
|
A | G | 30 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0021others(27): Show | 30 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-11525A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45026960 | ||||||
| chr18:45027104
|
C | T | 8 | a0001c0001t0001g0096a0001c0001t0001g0132a0001c0001t0002g0129others(5): Show | 8 | HG02109.hp2 HG02572.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.4001-11381C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027104 | ||||||
| chr18:45027139
|
G | A | 75 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0029others(72): Show | 75 | HG00099.hp2 HG00438.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.4001-11346G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027139 | ||||||
| chr18:45027280
|
G | T | 4 | a0001c0001t0001g0117a0001c0001t0002g0066a0001c0001t0006g0056others(1): Show | 4 | HG00741.hp1 HG01074.hp1 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.4001-11205G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027280 | ||||||
| chr18:45027485
|
A | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(51): Show | 54 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.4001-11000A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027485 | ||||||
| chr18:45027562
|
T | G | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-10923T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027562 | ||||||
| chr18:45027589
|
G | A | 15 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(12): Show | 15 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.4001-10896G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027589 | ||||||
| chr18:45027647
|
G | A | 15 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(12): Show | 15 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.4001-10838G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027647 | ||||||
| chr18:45027724
|
C | T | 15 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(12): Show | 15 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.4001-10761C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027724 | ||||||
| chr18:45027749
|
C | G | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4001-10736C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027749 | ||||||
| chr18:45027754
|
T | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4001-10731T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027754 | ||||||
| chr18:45027786
|
T | C | 1 | a0003c0003t0001g0063 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4001-10699T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027786 | ||||||
| chr18:45027807
|
A | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(5): Show | 8 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.4001-10678A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027807 | ||||||
| chr18:45027928
|
G | A | 2 | a0001c0016t0001g0101a0004c0015t0004g0036 | 2 | NA18964.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.4001-10557G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45027928 | ||||||
| chr18:45028018
|
A | C | 3 | a0001c0001t0001g0013a0003c0003t0013g0103a0004c0004t0002g0078 | 3 | HG01192.hp1 NA18953.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.4001-10467A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028018 | ||||||
| chr18:45028098
|
C | T | 15 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(12): Show | 15 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.4001-10387C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028098 | ||||||
| chr18:45028161
|
T | TC | 19 | a0001c0001t0001g0008a0001c0001t0001g0105a0001c0001t0002g0039others(16): Show | 19 | HG00099.hp2 HG00438.hp2 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.4001-10318dupC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45028161 | |||||
| chr18:45028193
|
A | G | 1 | a0003c0003t0008g0009 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.4001-10292A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028193 | ||||||
| chr18:45028225
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-10260T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028225 | ||||||
| chr18:45028241
|
A | G | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-10244A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028241 | ||||||
| chr18:45028249
|
G | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-10236G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028249 | ||||||
| chr18:45028252
|
A | T | 62 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(59): Show | 62 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.4001-10233A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028252 | ||||||
| chr18:45028361
|
T | G | 2 | a0001c0001t0001g0005a0001c0001t0001g0044 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4001-10124T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028361 | ||||||
| chr18:45028368
|
C | T | 3 | a0001c0001t0005g0087a0001c0001t0005g0138a0002c0002t0005g0107 | 3 | HG02717.hp2 HG02896.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4001-10117C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028368 | ||||||
| chr18:45028456
|
T | G | 16 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(13): Show | 16 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(13): Show |
intron_variant | MODIFIER | c.4001-10029T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028456 | ||||||
| chr18:45028458
|
C | T | 3 | a0001c0001t0002g0066a0001c0001t0006g0056a0002c0002t0001g0136 | 3 | HG00741.hp1 HG01074.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4001-10027C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028458 | ||||||
| chr18:45028507
|
G | C | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4001-9978G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028507 | ||||||
| chr18:45028510
|
C | A | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4001-9975C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028510 | ||||||
| chr18:45028573
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-9912G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028573 | ||||||
| chr18:45028585
|
C | A | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4001-9900C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028585 | ||||||
| chr18:45028618
|
G | C | 16 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(13): Show | 16 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(13): Show |
intron_variant | MODIFIER | c.4001-9867G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028618 | ||||||
| chr18:45028646
|
A | G | 16 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0060others(13): Show | 16 | HG00639.hp2 HG01167.hp1 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.4001-9839A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028646 | ||||||
| chr18:45028710
|
T | G | 3 | a0001c0001t0004g0006a0008c0011t0004g0124a0012c0014t0001g0104 | 3 | HG02647.hp1 HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4001-9775T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028710 | ||||||
| chr18:45028728
|
T | A | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4001-9757T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028728 | ||||||
| chr18:45028728
|
T | C | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4001-9757T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028728 | ||||||
| chr18:45028787
|
T | C | 3 | a0001c0001t0001g0030a0001c0001t0001g0099a0002c0002t0001g0081 | 3 | HG02717.hp1 HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.4001-9698T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028787 | ||||||
| chr18:45028810
|
T | G | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-9675T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028810 | ||||||
| chr18:45028849
|
G | T | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-9636G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028849 | ||||||
| chr18:45028854
|
G | A | 16 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(13): Show | 16 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(13): Show |
intron_variant | MODIFIER | c.4001-9631G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45028854 | ||||||
| chr18:45029003
|
C | T | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-9482C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029003 | ||||||
| chr18:45029236
|
C | G | 3 | a0001c0001t0005g0087a0001c0001t0005g0138a0002c0002t0005g0107 | 3 | HG02717.hp2 HG02896.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4001-9249C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029236 | ||||||
| chr18:45029329
|
C | T | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-9156C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029329 | ||||||
| chr18:45029346
|
G | T | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-9139G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029346 | ||||||
| chr18:45029392
|
C | T | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-9093C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029392 | ||||||
| chr18:45029601
|
G | A | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-8884G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029601 | ||||||
| chr18:45029643
|
A | C | 32 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0021others(29): Show | 32 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(29): Show |
intron_variant | MODIFIER | c.4001-8842A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029643 | ||||||
| chr18:45029761
|
C | T | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-8724C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029761 | ||||||
| chr18:45029773
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-8712T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029773 | ||||||
| chr18:45029780
|
C | T | 2 | a0001c0001t0001g0030a0001c0001t0001g0099 | 2 | HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.4001-8705C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029780 | ||||||
| chr18:45029789
|
G | A | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-8696G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029789 | ||||||
| chr18:45029985
|
A | G | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-8500A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029985 | ||||||
| chr18:45029988
|
T | C | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-8497T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45029988 | ||||||
| chr18:45030009
|
T | C | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.4001-8476T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030009 | ||||||
| chr18:45030042
|
G | A | 57 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(54): Show | 57 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(54): Show |
intron_variant | MODIFIER | c.4001-8443G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030042 | ||||||
| chr18:45030061
|
T | G | 37 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(34): Show | 37 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.4001-8424T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030061 | ||||||
| chr18:45030098
|
A | C | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-8387A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030098 | ||||||
| chr18:45030155
|
G | T | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-8330G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030155 | ||||||
| chr18:45030179
|
T | C | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-8306T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030179 | ||||||
| chr18:45030239
|
A | T | 1 | a0001c0001t0001g0140 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4001-8246A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030239 | ||||||
| chr18:45030336
|
C | T | 30 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(27): Show | 30 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.4001-8149C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030336 | ||||||
| chr18:45030358
|
A | T | 16 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(13): Show | 16 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(13): Show |
intron_variant | MODIFIER | c.4001-8127A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030358 | ||||||
| chr18:45030405
|
C | T | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-8080C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030405 | ||||||
| chr18:45030423
|
T | C | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.4001-8062T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030423 | ||||||
| chr18:45030446
|
C | T | 3 | a0001c0001t0001g0028a0003c0003t0001g0047a0003c0003t0001g0139 | 3 | HG01261.hp1 HG02004.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.4001-8039C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030446 | ||||||
| chr18:45030451
|
A | G | 7 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(4): Show | 7 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-8034A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030451 | ||||||
| chr18:45030524
|
T | A | 129 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.4001-7961T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030524 | ||||||
| chr18:45030613
|
G | A | 59 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(56): Show | 59 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(56): Show |
intron_variant | MODIFIER | c.4001-7872G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030613 | ||||||
| chr18:45030644
|
A | T | 29 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0055others(26): Show | 29 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.4001-7841A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030644 | ||||||
| chr18:45030717
|
G | A | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-7768G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030717 | ||||||
| chr18:45030722
|
C | T | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-7763C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030722 | ||||||
| chr18:45030743
|
G | A | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-7742G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030743 | ||||||
| chr18:45030762
|
T | G | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-7723T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030762 | ||||||
| chr18:45030795
|
G | T | 1 | a0002c0002t0001g0012 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4001-7690G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030795 | ||||||
| chr18:45030928
|
G | T | 1 | a0001c0001t0006g0092 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4001-7557G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030928 | ||||||
| chr18:45030968
|
G | C | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-7517G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45030968 | ||||||
| chr18:45031079
|
T | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4001-7406T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45031079 | ||||||
| chr18:45031188
|
G | C | 58 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(55): Show | 58 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(55): Show |
intron_variant | MODIFIER | c.4001-7297G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45031188 | ||||||
| chr18:45031341
|
G | A | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4001-7144G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45031341 | ||||||
| chr18:45031705
|
G | A | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4001-6780G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45031705 | ||||||
| chr18:45031773
|
A | C | 21 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0001g0096others(18): Show | 21 | HG00741.hp1 HG01074.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.4001-6712A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45031773 | ||||||
| chr18:45032126
|
C | T | 35 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(32): Show | 35 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.4001-6359C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032126 | ||||||
| chr18:45032220
|
T | C | 1 | a0001c0001t0003g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.4001-6265T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032220 | ||||||
| chr18:45032288
|
G | A | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-6197G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032288 | ||||||
| chr18:45032600
|
C | A | 31 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(28): Show | 31 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(28): Show |
intron_variant | MODIFIER | c.4001-5885C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032600 | ||||||
| chr18:45032639
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-5846G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032639 | ||||||
| chr18:45032684
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-5801G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032684 | ||||||
| chr18:45032700
|
C | T | 2 | a0001c0005t0020g0072a0002c0002t0004g0095 | 2 | HG03471.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4001-5785C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032700 | ||||||
| chr18:45032752
|
T | C | 31 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(28): Show | 31 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(28): Show |
intron_variant | MODIFIER | c.4001-5733T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032752 | ||||||
| chr18:45032771
|
A | G | 5 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(2): Show | 5 | HG02572.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4001-5714A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032771 | ||||||
| chr18:45032845
|
C | T | 2 | a0001c0005t0001g0111a0001c0005t0002g0115 | 2 | HG01981.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.4001-5640C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032845 | ||||||
| chr18:45032891
|
T | C | 3 | a0001c0001t0001g0122a0001c0001t0010g0035a0002c0002t0001g0074 | 3 | HG02486.hp2 HG03195.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4001-5594T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45032891 | ||||||
| chr18:45033081
|
C | T | 2 | a0001c0001t0001g0018a0003c0003t0001g0063 | 2 | HG00140.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.4001-5404C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45033081 | ||||||
| chr18:45033082
|
G | A | 2 | a0001c0001t0001g0055a0001c0001t0025g0042 | 2 | HG00438.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.4001-5403G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45033082 | ||||||
| chr18:45033169
|
C | T | 1 | a0009c0018t0004g0050 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.4001-5316C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45033169 | ||||||
| chr18:45033929
|
G | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-4556G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45033929 | ||||||
| chr18:45033967
|
T | C | 1 | a0001c0001t0002g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.4001-4518T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45033967 | ||||||
| chr18:45034265
|
C | T | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4001-4220C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034265 | ||||||
| chr18:45034386
|
C | T | 2 | a0001c0001t0001g0017a0001c0001t0001g0088 | 2 | HG00140.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4001-4099C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034386 | ||||||
| chr18:45034535
|
A | T | 97 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.4001-3950A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034535 | ||||||
| chr18:45034536
|
A | T | 2 | a0001c0001t0001g0132a0001c0001t0003g0059 | 2 | HG02895.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4001-3949A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034536 | ||||||
| chr18:45034615
|
T | C | 29 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(26): Show | 29 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(26): Show |
intron_variant | MODIFIER | c.4001-3870T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034615 | ||||||
| chr18:45034722
|
G | A | 1 | a0001c0001t0001g0061 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4001-3763G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034722 | ||||||
| chr18:45034893
|
G | A | 13 | a0001c0001t0001g0030a0001c0001t0001g0096a0001c0001t0001g0099others(10): Show | 13 | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.4001-3592G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45034893 | ||||||
| chr18:45034996
|
G | GCT | 7 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(4): Show | 7 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-3488_4001-348 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45034996 | |||||
| chr18:45034996
|
GC | G | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01070.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.4001-3481delC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45034996 | |||||
| chr18:45035279
|
T | C | 26 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(23): Show | 26 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.4001-3206T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035279 | ||||||
| chr18:45035601
|
G | A | 3 | a0001c0001t0005g0087a0001c0001t0005g0138a0002c0002t0005g0107 | 3 | HG02717.hp2 HG02896.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4001-2884G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035601 | ||||||
| chr18:45035667
|
A | G | 99 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
intron_variant | MODIFIER | c.4001-2818A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035667 | ||||||
| chr18:45035763
|
C | T | 13 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0049others(10): Show | 13 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.4001-2722C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035763 | ||||||
| chr18:45035807
|
C | T | 3 | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0137 | 3 | HG02630.hp2 HG02723.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4001-2678C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035807 | ||||||
| chr18:45035890
|
A | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4001-2595A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45035890 | ||||||
| chr18:45036332
|
CA | C | 36 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0030others(33): Show | 36 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(33): Show |
intron_variant | MODIFIER | c.4001-2136delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | 45036332 | |||||
| chr18:45036349
|
A | T | 26 | a0001c0001t0001g0013a0001c0001t0001g0055a0001c0001t0001g0065others(23): Show | 26 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(23): Show |
intron_variant | MODIFIER | c.4001-2136A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45036349 | ||||||
| chr18:45036876
|
C | G | 129 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.4001-1609C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45036876 | ||||||
| chr18:45036930
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.4001-1555G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45036930 | ||||||
| chr18:45036947
|
A | G | 28 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(25): Show | 28 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(25): Show |
intron_variant | MODIFIER | c.4001-1538A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45036947 | ||||||
| chr18:45036978
|
C | T | 65 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0029others(62): Show | 65 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(62): Show |
intron_variant | MODIFIER | c.4001-1507C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45036978 | ||||||
| chr18:45037031
|
C | G | 26 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(23): Show | 26 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.4001-1454C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037031 | ||||||
| chr18:45037145
|
T | G | 2 | a0001c0001t0006g0092a0002c0002t0006g0048 | 2 | HG01192.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.4001-1340T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037145 | ||||||
| chr18:45037195
|
A | G | 7 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(4): Show | 7 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-1290A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037195 | ||||||
| chr18:45037276
|
G | A | 2 | a0001c0009t0002g0106a0001c0009t0002g0133 | 2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4001-1209G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037276 | ||||||
| chr18:45037310
|
C | A | 1 | a0001c0001t0001g0017 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4001-1175C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037310 | ||||||
| chr18:45037314
|
T | C | 1 | a0004c0004t0001g0004 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4001-1171T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037314 | ||||||
| chr18:45037571
|
G | A | 8 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0061others(5): Show | 8 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.4001-914G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037571 | ||||||
| chr18:45037757
|
C | T | 2 | a0001c0001t0009g0077a0005c0006t0003g0022 | 2 | HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4001-728C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037757 | ||||||
| chr18:45037793
|
G | C | 1 | a0001c0001t0001g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4001-692G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037793 | ||||||
| chr18:45037811
|
G | A | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4001-674G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45037811 | ||||||
| chr18:45038009
|
C | G | 7 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0003g0057others(4): Show | 7 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.4001-476C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45038009 | ||||||
| chr18:45038037
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4001-448G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45038037 | ||||||
| chr18:45038207
|
G | A | 2 | a0001c0001t0001g0134a0002c0002t0001g0123 | 2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4001-278G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | 45038207 | ||||||
| chr18:45038749
|
C | A | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.4171+94C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038749 | ||||||
| chr18:45038768
|
C | T | 5 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(2): Show | 5 | HG01167.hp2 HG02486.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4171+113C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038768 | ||||||
| chr18:45038777
|
T | C | 1 | a0012c0014t0001g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4171+122T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038777 | ||||||
| chr18:45038791
|
G | A | 1 | a0002c0002t0001g0121 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4171+136G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038791 | ||||||
| chr18:45038809
|
T | C | 2 | a0003c0003t0001g0109a0003c0003t0016g0110 | 2 | HG00639.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.4171+154T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038809 | ||||||
| chr18:45038915
|
T | C | 2 | a0001c0001t0001g0005a0001c0001t0001g0044 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4171+260T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45038915 | ||||||
| chr18:45039112
|
A | T | 7 | a0001c0001t0001g0096a0001c0001t0001g0126a0001c0001t0001g0132others(4): Show | 7 | HG02109.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.4171+457A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039112 | ||||||
| chr18:45039184
|
G | A | 26 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(23): Show | 26 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.4171+529G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039184 | ||||||
| chr18:45039223
|
C | T | 29 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(26): Show | 29 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(26): Show |
intron_variant | MODIFIER | c.4171+568C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039223 | ||||||
| chr18:45039231
|
C | T | 28 | a0001c0001t0001g0013a0001c0001t0001g0055a0001c0001t0001g0065others(25): Show | 28 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
intron_variant | MODIFIER | c.4171+576C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039231 | ||||||
| chr18:45039235
|
A | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.4171+580A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039235 | ||||||
| chr18:45039240
|
C | T | 5 | a0001c0001t0001g0049a0001c0001t0002g0066a0001c0001t0006g0056others(2): Show | 5 | HG00741.hp1 HG01074.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.4171+585C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039240 | ||||||
| chr18:45039249
|
A | C | 1 | a0001c0001t0012g0033 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4171+594A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039249 | ||||||
| chr18:45039413
|
G | T | 97 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.4171+758G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039413 | ||||||
| chr18:45039457
|
T | G | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4171+802T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039457 | ||||||
| chr18:45039505
|
C | G | 3 | a0001c0001t0005g0087a0001c0001t0005g0138a0002c0002t0005g0107 | 3 | HG02717.hp2 HG02896.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4171+850C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039505 | ||||||
| chr18:45039911
|
T | G | 97 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.4171+1256T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039911 | ||||||
| chr18:45039974
|
G | A | 1 | a0001c0005t0001g0112 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4171+1319G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45039974 | ||||||
| chr18:45040227
|
G | C | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+1572G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45040227 | ||||||
| chr18:45040323
|
T | TTAG | 12 | a0001c0001t0001g0055a0001c0001t0002g0118a0001c0001t0025g0042others(9): Show | 12 | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(9): Show |
intron_variant | MODIFIER | c.4171+1672_4171+167 others(7): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45040323 | |||||
| chr18:45040568
|
G | A | 36 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0034others(33): Show | 36 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.4171+1913G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45040568 | ||||||
| chr18:45040649
|
G | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+1994G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45040649 | ||||||
| chr18:45041466
|
G | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+2811G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45041466 | ||||||
| chr18:45041976
|
T | A | 1 | a0001c0001t0002g0039 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4171+3321T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45041976 | ||||||
| chr18:45041987
|
G | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+3332G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45041987 | ||||||
| chr18:45042068
|
G | A | 1 | a0004c0004t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4171+3413G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042068 | ||||||
| chr18:45042146
|
CT | C | 86 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0016others(83): Show | 86 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(83): Show |
intron_variant | MODIFIER | c.4171+3512delT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45042146 | |||||
| chr18:45042146
|
CTT | C | 50 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0030others(47): Show | 50 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.4171+3511_4171+351 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45042146 | |||||
| chr18:45042325
|
T | C | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+3670T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042325 | ||||||
| chr18:45042476
|
G | A | 1 | a0004c0004t0001g0019 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4171+3821G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042476 | ||||||
| chr18:45042725
|
T | A | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4070T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042725 | ||||||
| chr18:45042767
|
G | A | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4112G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042767 | ||||||
| chr18:45042880
|
A | G | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4225A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042880 | ||||||
| chr18:45042999
|
C | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4344C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45042999 | ||||||
| chr18:45043025
|
G | A | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4171+4370G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043025 | ||||||
| chr18:45043063
|
A | G | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4171+4408A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043063 | ||||||
| chr18:45043174
|
A | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4519A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043174 | ||||||
| chr18:45043363
|
T | TCTCACA | 3 | a0001c0001t0005g0087a0001c0001t0005g0138a0002c0002t0005g0107 | 3 | HG02717.hp2 HG02896.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4171+4710_4171+471 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043363 | |||||
| chr18:45043363
|
T | TCTCTCAC others(1): Show |
65 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(62): Show | 65 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
intron_variant | MODIFIER | c.4171+4711_4171+471 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043363 | |||||
| chr18:45043363
|
T | TCTCTCTC others(3): Show |
27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4711_4171+471 others(14): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043363 | |||||
| chr18:45043367
|
A | T | 2 | a0001c0016t0001g0101a0004c0015t0004g0036 | 2 | NA18964.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.4171+4712A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043367 | ||||||
| chr18:45043375
|
A | ACACACT | 2 | a0001c0016t0001g0101a0004c0015t0004g0036 | 2 | NA18964.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.4171+4726_4171+473 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043375 | |||||
| chr18:45043381
|
T | TCA | 2 | a0001c0001t0001g0096a0001c0001t0001g0132 | 2 | HG02895.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4171+4741_4171+474 others(6): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043381 | |||||
| chr18:45043408
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4171+4753C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043408 | ||||||
| chr18:45043439
|
G | A | 1 | a0003c0003t0013g0103 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.4171+4784G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043439 | ||||||
| chr18:45043439
|
GA | G | 10 | a0001c0001t0001g0046a0001c0001t0001g0068a0001c0001t0001g0071others(7): Show | 10 | HG01258.hp1 HG01258.hp2 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.4171+4796delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45043439 | |||||
| chr18:45043487
|
A | T | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+4832A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043487 | ||||||
| chr18:45043803
|
A | G | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+5148A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043803 | ||||||
| chr18:45043805
|
C | A | 6 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0009g0027others(3): Show | 6 | HG02055.hp1 HG02572.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.4171+5150C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45043805 | ||||||
| chr18:45044244
|
A | T | 67 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0029others(64): Show | 67 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(64): Show |
intron_variant | MODIFIER | c.4171+5589A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044244 | ||||||
| chr18:45044463
|
G | A | 1 | a0002c0002t0001g0123 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4171+5808G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044463 | ||||||
| chr18:45044563
|
T | C | 3 | a0001c0001t0004g0006a0008c0011t0004g0124a0012c0014t0001g0104 | 3 | HG02647.hp1 HG02647.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4171+5908T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044563 | ||||||
| chr18:45044689
|
G | C | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+6034G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044689 | ||||||
| chr18:45044866
|
G | A | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(24): Show | 27 | HG00741.hp1 HG01074.hp1 HG01167.hp2 others(24): Show |
intron_variant | MODIFIER | c.4171+6211G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044866 | ||||||
| chr18:45044917
|
C | T | 1 | a0001c0012t0003g0069 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4171+6262C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45044917 | ||||||
| chr18:45045219
|
C | T | 1 | a0001c0001t0010g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4171+6564C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045219 | ||||||
| chr18:45045373
|
G | A | 1 | a0004c0004t0001g0053 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.4171+6718G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045373 | ||||||
| chr18:45045491
|
C | A | 1 | a0001c0001t0001g0002 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.4171+6836C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045491 | ||||||
| chr18:45045632
|
A | C | 1 | a0002c0002t0004g0095 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4171+6977A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045632 | ||||||
| chr18:45045699
|
A | G | 9 | a0001c0001t0001g0021a0001c0001t0002g0066a0001c0001t0002g0125others(6): Show | 9 | HG00099.hp1 HG00741.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.4171+7044A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045699 | ||||||
| chr18:45045717
|
C | G | 1 | a0001c0001t0002g0102 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.4171+7062C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45045717 | ||||||
| chr18:45046071
|
C | A | 13 | a0001c0001t0001g0002a0001c0001t0001g0093a0001c0001t0001g0096others(10): Show | 13 | HG00735.hp2 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.4171+7416C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046071 | ||||||
| chr18:45046284
|
C | G | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4171+7629C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046284 | ||||||
| chr18:45046355
|
C | T | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4171+7700C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046355 | ||||||
| chr18:45046514
|
T | C | 3 | a0001c0012t0003g0069a0002c0002t0019g0128a0005c0006t0003g0022 | 3 | HG01496.hp1 HG03516.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.4171+7859T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046514 | ||||||
| chr18:45046629
|
C | G | 1 | a0001c0001t0001g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4171+7974C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046629 | ||||||
| chr18:45046636
|
A | G | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4171+7981A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046636 | ||||||
| chr18:45046762
|
A | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4171+8107A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046762 | ||||||
| chr18:45046997
|
T | G | 1 | a0001c0009t0002g0106 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4171+8342T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45046997 | ||||||
| chr18:45047083
|
C | T | 6 | a0001c0001t0009g0027a0001c0001t0009g0077a0001c0001t0010g0035others(3): Show | 6 | HG02055.hp1 HG02486.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.4171+8428C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047083 | ||||||
| chr18:45047143
|
A | G | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.4171+8488A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047143 | ||||||
| chr18:45047221
|
G | A | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4171+8566G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047221 | ||||||
| chr18:45047356
|
G | A | 6 | a0001c0001t0001g0093a0001c0001t0001g0117a0001c0001t0001g0120others(3): Show | 6 | HG01071.hp1 HG01074.hp1 HG01175.hp1 others(3): Show |
intron_variant | MODIFIER | c.4171+8701G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047356 | ||||||
| chr18:45047391
|
T | C | 60 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(57): Show | 60 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.4171+8736T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047391 | ||||||
| chr18:45047444
|
G | A | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4171+8789G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047444 | ||||||
| chr18:45047618
|
G | A | 1 | a0002c0002t0002g0045 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4171+8963G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047618 | ||||||
| chr18:45047645
|
G | A | 8 | a0001c0001t0009g0027a0001c0001t0009g0077a0001c0001t0010g0035others(5): Show | 8 | HG02055.hp1 HG02486.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.4171+8990G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45047645 | ||||||
| chr18:45048156
|
G | T | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4171+9501G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45048156 | ||||||
| chr18:45048363
|
T | G | 39 | a0001c0001t0001g0091a0001c0001t0001g0134a0001c0001t0002g0010others(36): Show | 39 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.4171+9708T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45048363 | ||||||
| chr18:45048559
|
G | A | 4 | a0001c0001t0003g0001a0001c0001t0003g0037a0001c0001t0003g0059others(1): Show | 4 | HG02109.hp2 HG02886.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.4171+9904G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45048559 | ||||||
| chr18:45048597
|
G | A | 5 | a0001c0001t0001g0016a0001c0016t0001g0101a0004c0004t0001g0054others(2): Show | 5 | HG02523.hp2 NA18964.hp2 NA19000.hp1 others(2): Show |
intron_variant | MODIFIER | c.4171+9942G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45048597 | ||||||
| chr18:45048978
|
C | CA | 8 | a0001c0001t0001g0055a0001c0001t0002g0127a0001c0001t0002g0129others(5): Show | 8 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.4171+10351dupA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
C | CAAAA | 10 | a0001c0001t0001g0002a0001c0001t0002g0010a0001c0001t0002g0039others(7): Show | 10 | HG00099.hp2 HG01255.hp1 HG01496.hp2 others(7): Show |
intron_variant | MODIFIER | c.4171+10348_4171+10 others(10): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
C | CAAAAA | 13 | a0001c0001t0001g0091a0001c0001t0002g0125a0001c0001t0012g0033others(10): Show | 13 | HG00639.hp2 HG01070.hp1 HG01070.hp2 others(10): Show |
intron_variant | MODIFIER | c.4171+10347_4171+10 others(11): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
C | CAAAAAA | 7 | a0001c0001t0002g0094a0001c0001t0009g0027a0001c0001t0010g0035others(4): Show | 7 | HG01071.hp2 HG02055.hp1 HG02083.hp1 others(4): Show |
intron_variant | MODIFIER | c.4171+10346_4171+10 others(12): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
C | CAAAAAAA others(3): Show |
3 | a0001c0010t0007g0058a0002c0002t0006g0048a0003c0003t0008g0009 | 3 | HG00735.hp1 HG01192.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4171+10342_4171+10 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
CA | C | 56 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0017others(53): Show | 56 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(53): Show |
intron_variant | MODIFIER | c.4171+10351delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
CAA | C | 6 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0032others(3): Show | 6 | HG02132.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4171+10350_4171+10 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45048978
|
CAAAAAAA others(3): Show |
C | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4171+10342_4171+10 others(16): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45048978 | |||||
| chr18:45049026
|
C | T | 1 | a0002c0002t0001g0074 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4171+10371C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049026 | ||||||
| chr18:45049032
|
G | A | 2 | a0003c0003t0001g0139a0004c0004t0001g0004 | 2 | HG01261.hp1 HG02040.hp1 |
intron_variant | MODIFIER | c.4171+10377G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049032 | ||||||
| chr18:45049048
|
T | A | 1 | a0003c0003t0018g0011 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.4171+10393T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049048 | ||||||
| chr18:45049102
|
A | C | 37 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0016others(34): Show | 37 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(34): Show |
intron_variant | MODIFIER | c.4171+10447A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049102 | ||||||
| chr18:45049785
|
A | G | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4171+11130A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049785 | ||||||
| chr18:45049835
|
G | A | 8 | a0001c0001t0005g0079a0001c0001t0005g0087a0001c0001t0005g0138others(5): Show | 8 | HG01496.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4171+11180G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049835 | ||||||
| chr18:45049863
|
A | G | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4171+11208A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049863 | ||||||
| chr18:45049923
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.4171+11268C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45049923 | ||||||
| chr18:45050678
|
C | T | 1 | a0002c0002t0019g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4171+12023C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45050678 | ||||||
| chr18:45050766
|
T | C | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4171+12111T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45050766 | ||||||
| chr18:45050802
|
A | G | 49 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(46): Show | 49 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.4171+12147A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45050802 | ||||||
| chr18:45051322
|
A | G | 3 | a0001c0001t0001g0034a0001c0001t0001g0096a0001c0001t0001g0132 | 3 | HG02895.hp1 HG03195.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4172-11757A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45051322 | ||||||
| chr18:45051342
|
A | AT | 4 | a0001c0001t0002g0127a0001c0001t0002g0129a0001c0009t0002g0106others(1): Show | 4 | HG02572.hp1 HG02723.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4172-11729dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45051342 | |||||
| chr18:45051783
|
T | C | 2 | a0001c0012t0003g0069a0005c0006t0003g0022 | 2 | HG01496.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4172-11296T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45051783 | ||||||
| chr18:45051891
|
G | A | 1 | a0001c0001t0024g0108 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4172-11188G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45051891 | ||||||
| chr18:45052034
|
G | GT | 45 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(42): Show | 45 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.4172-11044dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45052034 | |||||
| chr18:45052687
|
G | C | 7 | a0001c0001t0001g0002a0001c0001t0002g0118a0001c0001t0004g0006others(4): Show | 7 | HG00639.hp1 HG01074.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.4172-10392G>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052687 | ||||||
| chr18:45052689
|
A | T | 7 | a0001c0001t0001g0002a0001c0001t0002g0118a0001c0001t0004g0006others(4): Show | 7 | HG00639.hp1 HG01074.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.4172-10390A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052689 | ||||||
| chr18:45052706
|
T | A | 2 | a0001c0012t0003g0069a0005c0006t0003g0022 | 2 | HG01496.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4172-10373T>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052706 | ||||||
| chr18:45052759
|
C | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4172-10320C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052759 | ||||||
| chr18:45052898
|
A | C | 12 | a0001c0001t0003g0001a0001c0001t0003g0037a0001c0001t0003g0059others(9): Show | 12 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.4172-10181A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052898 | ||||||
| chr18:45052965
|
T | G | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-10114T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45052965 | ||||||
| chr18:45053054
|
C | T | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4172-10025C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45053054 | ||||||
| chr18:45053130
|
GA | G | 8 | a0001c0001t0005g0079a0001c0001t0005g0087a0001c0001t0005g0138others(5): Show | 8 | HG01496.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4172-9939delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45053130 | |||||
| chr18:45053131
|
A | G | 1 | a0001c0001t0010g0131 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4172-9948A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45053131 | ||||||
| chr18:45053765
|
A | AT | 23 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(20): Show | 23 | HG00099.hp2 HG00639.hp2 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.4172-9306dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45053765 | |||||
| chr18:45053873
|
G | A | 3 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0088 | 3 | HG00140.hp2 HG01978.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.4172-9206G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45053873 | ||||||
| chr18:45054191
|
A | AT | 5 | a0001c0001t0001g0005a0001c0001t0001g0071a0001c0001t0003g0001others(2): Show | 5 | HG02109.hp2 HG02886.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.4172-8874dupT | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45054191 | |||||
| chr18:45054500
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4172-8579G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054500 | ||||||
| chr18:45054506
|
C | CAAAT | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-8571_4172-856 others(8): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45054506 | |||||
| chr18:45054532
|
A | C | 9 | a0001c0001t0003g0037a0001c0001t0005g0079a0001c0001t0005g0087others(6): Show | 9 | HG01496.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.4172-8547A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054532 | ||||||
| chr18:45054645
|
A | T | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4172-8434A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054645 | ||||||
| chr18:45054763
|
G | A | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-8316G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054763 | ||||||
| chr18:45054940
|
C | T | 1 | a0001c0005t0001g0084 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4172-8139C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054940 | ||||||
| chr18:45054988
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4172-8091G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45054988 | ||||||
| chr18:45055014
|
A | G | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-8065A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45055014 | ||||||
| chr18:45055244
|
G | A | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4172-7835G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45055244 | ||||||
| chr18:45055749
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.4172-7330T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45055749 | ||||||
| chr18:45056158
|
T | G | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-6921T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45056158 | ||||||
| chr18:45056614
|
A | G | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4172-6465A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45056614 | ||||||
| chr18:45056632
|
C | G | 1 | a0001c0005t0020g0072 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.4172-6447C>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45056632 | ||||||
| chr18:45057010
|
C | T | 2 | a0001c0012t0003g0069a0005c0006t0003g0022 | 2 | HG01496.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4172-6069C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057010 | ||||||
| chr18:45057127
|
T | C | 56 | a0001c0001t0001g0008a0001c0001t0001g0091a0001c0001t0002g0010others(53): Show | 56 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(53): Show |
intron_variant | MODIFIER | c.4172-5952T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057127 | ||||||
| chr18:45057154
|
G | A | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4172-5925G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057154 | ||||||
| chr18:45057253
|
C | A | 1 | a0001c0001t0003g0057 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4172-5826C>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057253 | ||||||
| chr18:45057375
|
G | A | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-5704G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057375 | ||||||
| chr18:45057422
|
T | C | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-5657T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057422 | ||||||
| chr18:45057598
|
G | A | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4172-5481G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057598 | ||||||
| chr18:45057693
|
C | T | 3 | a0001c0001t0001g0034a0001c0001t0001g0096a0001c0001t0001g0132 | 3 | HG02895.hp1 HG03195.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4172-5386C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057693 | ||||||
| chr18:45057825
|
C | T | 4 | a0001c0001t0002g0118a0001c0001t0015g0015a0001c0005t0020g0072others(1): Show | 4 | HG00639.hp1 HG01074.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.4172-5254C>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057825 | ||||||
| chr18:45057854
|
A | G | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-5225A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057854 | ||||||
| chr18:45057917
|
A | C | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-5162A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45057917 | ||||||
| chr18:45058197
|
G | A | 3 | a0001c0001t0003g0001a0001c0001t0003g0059a0001c0001t0003g0100 | 3 | HG02109.hp2 HG02886.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4172-4882G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45058197 | ||||||
| chr18:45058613
|
G | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.4172-4466G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45058613 | ||||||
| chr18:45059103
|
T | C | 1 | a0002c0002t0014g0130 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4172-3976T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45059103 | ||||||
| chr18:45059513
|
A | C | 4 | a0001c0001t0002g0127a0001c0001t0002g0129a0001c0009t0002g0106others(1): Show | 4 | HG02572.hp1 HG02723.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4172-3566A>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45059513 | ||||||
| chr18:45059725
|
T | C | 55 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(52): Show | 55 | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.4172-3354T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45059725 | ||||||
| chr18:45059835
|
A | G | 1 | a0001c0001t0006g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4172-3244A>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45059835 | ||||||
| chr18:45059879
|
T | C | 2 | a0001c0001t0006g0092a0002c0002t0006g0048 | 2 | HG01192.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.4172-3200T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45059879 | ||||||
| chr18:45060366
|
G | T | 2 | a0001c0001t0001g0021a0002c0002t0001g0020 | 2 | HG00099.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.4172-2713G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45060366 | ||||||
| chr18:45060515
|
TC | T | 2 | a0001c0001t0001g0091a0004c0004t0001g0003 | 2 | NA18963.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.4172-2562delC | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45060515 | |||||
| chr18:45060719
|
A | T | 14 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(11): Show | 14 | HG00099.hp2 HG01070.hp1 HG01255.hp1 others(11): Show |
intron_variant | MODIFIER | c.4172-2360A>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45060719 | ||||||
| chr18:45060833
|
T | C | 12 | a0001c0001t0003g0001a0001c0001t0003g0037a0001c0001t0003g0059others(9): Show | 12 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.4172-2246T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45060833 | ||||||
| chr18:45060859
|
CA | C | 12 | a0001c0001t0003g0001a0001c0001t0003g0037a0001c0001t0003g0059others(9): Show | 12 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.4172-2217delA | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | 45060859 | |||||
| chr18:45061080
|
G | T | 1 | a0003c0003t0002g0014 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.4172-1999G>T | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45061080 | ||||||
| chr18:45061552
|
T | G | 12 | a0001c0001t0003g0001a0001c0001t0003g0037a0001c0001t0003g0059others(9): Show | 12 | HG01496.hp1 HG02109.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.4172-1527T>G | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45061552 | ||||||
| chr18:45062200
|
G | A | 19 | a0001c0001t0001g0091a0001c0001t0002g0010a0001c0001t0002g0039others(16): Show | 19 | HG00099.hp2 HG01070.hp1 HG01255.hp1 others(16): Show |
intron_variant | MODIFIER | c.4172-879G>A | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45062200 | ||||||
| chr18:45062942
|
T | C | 1 | a0001c0001t0001g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4172-137T>C | SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | chr18 | 45062942 |