| geneid | 25825 |
|---|---|
| ensemblid | ENSG00000182240.16 |
| hgncid | 934 |
| symbol | BACE2 |
| name | beta-secretase 2 |
| refseq_nuc | NM_012105.5 |
| refseq_prot | NP_036237.2 |
| ensembl_nuc | ENST00000330333.11 |
| ensembl_prot | ENSP00000332979.6 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 41168160 |
| end | 41282530 |
| strand | + |
| ver | v1.2 |
| region | chr21:41168160-41282530 |
| region5000 | chr21:41163160-41287530 |
| regionname0 | BACE2_chr21_41168160_41282530 |
| regionname5000 | BACE2_chr21_41163160_41287530 |
| 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 | 518 | 271 | 93 | 64 | 64 | 12 | 36 | 44 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0002 | 0/0 | 518 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| 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 | 1/1 | 1557 | 179 | 81 | 36 | 32 | 9 | 19 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| c0002 | 0/0 | 1557 | 88 | 9 | 28 | 31 | 3 | 17 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| c0003 | 0/0 | 1557 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| c0004 | 0/0 | 1557 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| c0005 | 0/0 | 1557 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| c0006 | 0/0 | 1557 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| 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 | 0/0 | 7012 | 72 | 8 | 22 | 27 | 5 | 10 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0002 | 0/0 | 7012 | 24 | 7 | 3 | 9 | 2 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0003 | 0/1 | 7012 | 23 | 1 | 6 | 10 | 0 | 5 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0004 | 0/0 | 7012 | 19 | 6 | 5 | 7 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0005 | 0/0 | 7012 | 13 | 13 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0006 | 0/0 | 7012 | 11 | 1 | 4 | 0 | 0 | 6 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0007 | 0/0 | 7012 | 10 | 8 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0008 | 0/0 | 7011 | 9 | 9 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0009 | 0/0 | 7011 | 6 | 2 | 2 | 0 | 1 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0010 | 1/0 | 7011 | 6 | 0 | 2 | 0 | 3 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0011 | 0/0 | 7012 | 6 | 6 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0012 | 0/0 | 7012 | 4 | 3 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0013 | 0/0 | 7012 | 4 | 1 | 3 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0014 | 0/0 | 7013 | 3 | 1 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0015 | 0/0 | 7012 | 3 | 0 | 0 | 3 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0016 | 0/0 | 7012 | 3 | 0 | 3 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0017 | 0/0 | 7013 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0018 | 0/0 | 7011 | 2 | 1 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0019 | 0/0 | 7012 | 2 | 1 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0020 | 0/0 | 7013 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0021 | 0/0 | 7013 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0022 | 0/0 | 7012 | 2 | 0 | 0 | 1 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0023 | 0/0 | 7012 | 2 | 0 | 0 | 0 | 0 | 2 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0024 | 0/0 | 7012 | 2 | 0 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0025 | 0/0 | 7012 | 2 | 0 | 0 | 2 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0026 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0027 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0028 | 0/0 | 7013 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0029 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0030 | 0/0 | 7097 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0031 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0032 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0033 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0034 | 0/0 | 7011 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0035 | 0/0 | 7011 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0036 | 0/0 | 7011 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0037 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0038 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0039 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0040 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0041 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0042 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0043 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0044 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0045 | 0/0 | 7012 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0046 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0047 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0048 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0049 | 0/0 | 7012 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0050 | 0/0 | 7012 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0051 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0052 | 0/0 | 7011 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0053 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0054 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0055 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0056 | 0/0 | 7012 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0057 | 0/0 | 7012 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0058 | 0/0 | 7012 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0059 | 0/0 | 7013 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0060 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0061 | 0/0 | 7012 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0062 | 0/0 | 7012 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| t0063 | 0/0 | 7013 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| 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 | 2 | 0 | 0 | 0 | 2 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0109 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0110 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0252 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0268 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| 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 | 1/1 | 1557 | 179 | 81 | 36 | 32 | 9 | 19 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002 | 0/0 | 1557 | 88 | 9 | 28 | 31 | 3 | 17 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0003 | 0/0 | 1557 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0004 | 0/0 | 1557 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0006 | 0/0 | 1557 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0002c0005 | 0/0 | 1557 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8568 | 8 | 1 | 1 | 3 | 2 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0002 | 0/0 | 8568 | 24 | 7 | 3 | 9 | 2 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0003 | 0/1 | 8568 | 17 | 1 | 5 | 7 | 0 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0004 | 0/0 | 8568 | 19 | 6 | 5 | 7 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0005 | 0/0 | 8568 | 12 | 12 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0006 | 0/0 | 8568 | 11 | 1 | 4 | 0 | 0 | 6 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0007 | 0/0 | 8568 | 10 | 8 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0008 | 0/0 | 8567 | 9 | 9 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0009 | 0/0 | 8567 | 6 | 2 | 2 | 0 | 1 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0010 | 1/0 | 8567 | 6 | 0 | 2 | 0 | 3 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0011 | 0/0 | 8568 | 6 | 6 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0012 | 0/0 | 8568 | 3 | 2 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0013 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0014 | 0/0 | 8569 | 3 | 1 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0015 | 0/0 | 8568 | 3 | 0 | 0 | 3 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0016 | 0/0 | 8568 | 3 | 0 | 3 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0017 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0018 | 0/0 | 8567 | 2 | 1 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0019 | 0/0 | 8568 | 2 | 1 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0020 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0021 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0027 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0028 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0029 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0030 | 0/0 | 8653 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0031 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0032 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0033 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0034 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0035 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0036 | 0/0 | 8567 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0037 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0038 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0039 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0040 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0042 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0043 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0044 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0045 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0046 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0047 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0048 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0049 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0050 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0051 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0053 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0054 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0061 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0001t0063 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0001 | 0/0 | 8568 | 64 | 7 | 21 | 24 | 3 | 9 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0003 | 0/0 | 8568 | 6 | 0 | 1 | 3 | 0 | 2 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0013 | 0/0 | 8568 | 3 | 1 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0022 | 0/0 | 8568 | 2 | 0 | 0 | 1 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0023 | 0/0 | 8568 | 2 | 0 | 0 | 0 | 0 | 2 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0024 | 0/0 | 8568 | 2 | 0 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0025 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0026 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0055 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0056 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0057 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0058 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0059 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0060 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0002t0062 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0003t0005 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0003t0012 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0004t0025 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0001c0006t0052 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| a0002c0005t0041 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | copy fasta | chr21 | 41163160 | 41287530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0109 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0110 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0013g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0017g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0017g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0018g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0018g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0019g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0019g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0020g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0020g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0021g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0021g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0027g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0028g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0029g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0030g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0031g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0032g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0033g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0034g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0035g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0036g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0037g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0038g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0039g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0040g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0042g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0043g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0044g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0045g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0046g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0047g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0048g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0049g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0050g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0051g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0053g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0054g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0061g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0063g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0022g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0022g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0023g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0023g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0024g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0024g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0025g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0026g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0055g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0056g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0057g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0058g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0059g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0060g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0062g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0003t0005g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0003t0012g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0004t0025g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0006t0052g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0002c0005t0041g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0120 | EUR | GBR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00140 | hp2 | a0001 | c0002 | t0001 | g0121 | EUR | GBR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00280 | hp1 | a0001 | c0001 | t0010 | g0122 | EUR | FIN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0268 | EUR | FIN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00408 | hp1 | a0001 | c0001 | t0004 | g0095 | EAS | CHS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0187 | EAS | CHS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00642 | hp1 | a0001 | c0002 | t0055 | g0168 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00642 | hp2 | a0001 | c0002 | t0001 | g0102 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00733 | hp1 | a0001 | c0002 | t0001 | g0135 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00733 | hp2 | a0001 | c0002 | t0001 | g0124 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00738 | hp1 | a0001 | c0001 | t0010 | g0219 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00738 | hp2 | a0001 | c0001 | t0003 | g0230 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00741 | hp1 | a0001 | c0002 | t0001 | g0029 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00741 | hp2 | a0001 | c0001 | t0012 | g0137 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01069 | hp1 | a0001 | c0001 | t0016 | g0039 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0087 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01070 | hp1 | a0001 | c0002 | t0001 | g0209 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01070 | hp2 | a0001 | c0001 | t0007 | g0078 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01071 | hp1 | a0001 | c0001 | t0016 | g0232 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01071 | hp2 | a0001 | c0001 | t0007 | g0210 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01074 | hp1 | a0001 | c0001 | t0016 | g0117 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01074 | hp2 | a0001 | c0001 | t0004 | g0129 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01081 | hp1 | a0001 | c0002 | t0001 | g0093 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01081 | hp2 | a0001 | c0001 | t0013 | g0114 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01099 | hp1 | a0001 | c0002 | t0001 | g0166 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01099 | hp2 | a0001 | c0001 | t0006 | g0254 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0155 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01106 | hp2 | a0001 | c0001 | t0029 | g0145 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01109 | hp1 | a0001 | c0001 | t0019 | g0211 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01109 | hp2 | a0001 | c0001 | t0009 | g0119 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01167 | hp1 | a0001 | c0002 | t0001 | g0221 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01167 | hp2 | a0001 | c0001 | t0014 | g0250 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01168 | hp1 | a0001 | c0002 | t0001 | g0262 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01168 | hp2 | a0001 | c0002 | t0024 | g0054 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01169 | hp1 | a0001 | c0002 | t0024 | g0021 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01169 | hp2 | a0001 | c0001 | t0014 | g0177 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01175 | hp1 | a0001 | c0001 | t0004 | g0018 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0226 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0028 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01192 | hp2 | a0001 | c0001 | t0006 | g0059 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01243 | hp1 | a0001 | c0001 | t0010 | g0123 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0175 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01255 | hp1 | a0001 | c0001 | t0006 | g0107 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0128 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01256 | hp1 | a0001 | c0001 | t0003 | g0186 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01256 | hp2 | a0001 | c0001 | t0006 | g0171 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01257 | hp1 | a0001 | c0001 | t0004 | g0072 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01257 | hp2 | a0001 | c0002 | t0001 | g0261 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01258 | hp1 | a0001 | c0001 | t0003 | g0064 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01258 | hp2 | a0001 | c0001 | t0004 | g0202 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01261 | hp1 | a0001 | c0001 | t0003 | g0224 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01261 | hp2 | a0001 | c0002 | t0013 | g0198 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01361 | hp1 | a0001 | c0002 | t0001 | g0111 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01361 | hp2 | a0001 | c0001 | t0044 | g0020 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01496 | hp1 | a0001 | c0002 | t0001 | g0225 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0025 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01515 | hp1 | a0001 | c0002 | t0001 | g0045 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01515 | hp2 | a0001 | c0001 | t0010 | g0222 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01516 | hp1 | a0001 | c0002 | t0001 | g0252 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0001 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01517 | hp1 | a0001 | c0001 | t0010 | g0223 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0001 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01884 | hp1 | a0001 | c0001 | t0008 | g0012 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0049 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01934 | hp1 | a0001 | c0002 | t0001 | g0056 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01934 | hp2 | a0001 | c0001 | t0004 | g0218 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01952 | hp1 | a0001 | c0001 | t0009 | g0042 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01952 | hp2 | a0001 | c0002 | t0001 | g0040 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01978 | hp1 | a0001 | c0001 | t0051 | g0132 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01978 | hp2 | a0001 | c0002 | t0058 | g0134 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01981 | hp1 | a0001 | c0002 | t0001 | g0065 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01981 | hp2 | a0001 | c0001 | t0043 | g0227 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0180 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02004 | hp2 | a0001 | c0001 | t0003 | g0127 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02027 | hp1 | a0001 | c0001 | t0004 | g0158 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02027 | hp2 | a0001 | c0001 | t0050 | g0195 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02055 | hp1 | a0001 | c0002 | t0001 | g0242 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02055 | hp2 | a0001 | c0001 | t0005 | g0024 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0197 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02056 | hp2 | a0001 | c0002 | t0003 | g0116 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02071 | hp1 | a0001 | c0002 | t0001 | g0036 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02071 | hp2 | a0001 | c0002 | t0057 | g0057 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0125 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0190 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02083 | hp2 | a0001 | c0002 | t0001 | g0081 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02129 | hp1 | a0001 | c0001 | t0003 | g0041 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0251 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0237 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02132 | hp2 | a0001 | c0002 | t0001 | g0033 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02145 | hp1 | a0001 | c0001 | t0008 | g0257 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02145 | hp2 | a0001 | c0001 | t0020 | g0266 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02257 | hp1 | a0001 | c0001 | t0042 | g0248 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02257 | hp2 | a0001 | c0002 | t0001 | g0139 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02258 | hp1 | a0001 | c0001 | t0005 | g0005 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02258 | hp2 | a0001 | c0001 | t0003 | g0178 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02280 | hp1 | a0001 | c0003 | t0005 | g0051 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02280 | hp2 | a0001 | c0001 | t0004 | g0074 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02293 | hp1 | a0001 | c0002 | t0003 | g0069 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02293 | hp2 | a0001 | c0002 | t0001 | g0235 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02300 | hp1 | a0001 | c0002 | t0013 | g0220 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0070 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02451 | hp1 | a0001 | c0001 | t0011 | g0071 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0245 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02572 | hp1 | a0001 | c0001 | t0012 | g0142 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02572 | hp2 | a0001 | c0001 | t0007 | g0089 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02602 | hp1 | a0001 | c0001 | t0048 | g0130 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02602 | hp2 | a0001 | c0002 | t0001 | g0249 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02615 | hp1 | a0001 | c0001 | t0004 | g0214 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02615 | hp2 | a0001 | c0002 | t0059 | g0265 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02622 | hp1 | a0001 | c0001 | t0008 | g0255 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02622 | hp2 | a0001 | c0001 | t0006 | g0169 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02630 | hp1 | a0001 | c0001 | t0005 | g0243 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02630 | hp2 | a0001 | c0001 | t0004 | g0023 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02647 | hp1 | a0001 | c0001 | t0035 | g0112 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0026 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02683 | hp1 | a0001 | c0002 | t0023 | g0176 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02683 | hp2 | a0001 | c0001 | t0009 | g0184 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02717 | hp1 | a0001 | c0001 | t0007 | g0113 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02717 | hp2 | a0001 | c0001 | t0008 | g0034 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02723 | hp1 | a0001 | c0001 | t0017 | g0270 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02723 | hp2 | a0001 | c0001 | t0005 | g0058 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02738 | hp1 | a0001 | c0001 | t0018 | g0022 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02738 | hp2 | a0001 | c0002 | t0023 | g0094 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02809 | hp1 | a0001 | c0001 | t0011 | g0088 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02809 | hp2 | a0001 | c0001 | t0005 | g0162 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02818 | hp1 | a0001 | c0001 | t0011 | g0264 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02818 | hp2 | a0001 | c0001 | t0008 | g0267 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0149 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02886 | hp2 | a0001 | c0001 | t0007 | g0201 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02895 | hp1 | a0001 | c0001 | t0007 | g0271 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02895 | hp2 | a0001 | c0002 | t0001 | g0256 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02896 | hp1 | a0001 | c0001 | t0007 | g0075 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02896 | hp2 | a0001 | c0001 | t0011 | g0063 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02922 | hp1 | a0001 | c0001 | t0019 | g0009 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02922 | hp2 | a0001 | c0001 | t0053 | g0076 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02965 | hp1 | a0001 | c0003 | t0012 | g0207 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02965 | hp2 | a0001 | c0001 | t0005 | g0008 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02970 | hp1 | a0001 | c0001 | t0008 | g0086 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0241 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02976 | hp1 | a0001 | c0001 | t0033 | g0037 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0159 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03017 | hp1 | a0001 | c0002 | t0001 | g0046 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03017 | hp2 | a0001 | c0001 | t0006 | g0126 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03041 | hp1 | a0001 | c0001 | t0007 | g0050 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03041 | hp2 | a0001 | c0001 | t0009 | g0229 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03098 | hp1 | a0001 | c0001 | t0011 | g0011 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03098 | hp2 | a0001 | c0001 | t0017 | g0146 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03130 | hp1 | a0001 | c0001 | t0008 | g0006 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03130 | hp2 | a0001 | c0001 | t0005 | g0140 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03139 | hp1 | a0001 | c0001 | t0040 | g0084 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03139 | hp2 | a0001 | c0001 | t0005 | g0147 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03195 | hp1 | a0001 | c0001 | t0008 | g0080 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03195 | hp2 | a0001 | c0001 | t0020 | g0150 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03209 | hp1 | a0001 | c0001 | t0005 | g0240 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03209 | hp2 | a0001 | c0001 | t0039 | g0004 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03225 | hp1 | a0001 | c0001 | t0007 | g0244 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03225 | hp2 | a0001 | c0001 | t0005 | g0030 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0217 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0148 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0160 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03453 | hp2 | a0001 | c0002 | t0001 | g0151 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0234 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0228 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0165 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03490 | hp2 | a0001 | c0002 | t0003 | g0258 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03491 | hp1 | a0001 | c0002 | t0001 | g0233 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03491 | hp2 | a0001 | c0001 | t0006 | g0196 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03492 | hp1 | a0001 | c0001 | t0006 | g0199 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03492 | hp2 | a0001 | c0002 | t0003 | g0216 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03540 | hp1 | a0001 | c0001 | t0005 | g0161 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03540 | hp2 | a0001 | c0001 | t0011 | g0092 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03579 | hp1 | a0001 | c0001 | t0061 | g0098 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03579 | hp2 | a0001 | c0001 | t0002 | g0007 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0118 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03654 | hp2 | a0001 | c0002 | t0062 | g0014 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0156 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03704 | hp2 | a0001 | c0001 | t0006 | g0189 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03831 | hp1 | a0001 | c0002 | t0060 | g0143 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0231 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03834 | hp1 | a0001 | c0001 | t0047 | g0157 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03834 | hp2 | a0001 | c0001 | t0003 | g0153 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0154 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03942 | hp2 | a0001 | c0001 | t0003 | g0015 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04184 | hp1 | a0001 | c0001 | t0004 | g0172 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04184 | hp2 | a0001 | c0002 | t0022 | g0183 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0101 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04199 | hp2 | a0001 | c0001 | t0036 | g0019 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04204 | hp1 | a0001 | c0001 | t0003 | g0013 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04204 | hp2 | a0001 | c0002 | t0001 | g0253 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0048 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04228 | hp2 | a0001 | c0001 | t0006 | g0097 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18522 | hp1 | a0001 | c0001 | t0012 | g0152 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18522 | hp2 | a0001 | c0001 | t0030 | g0208 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18612 | hp1 | a0001 | c0002 | t0001 | g0091 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18612 | hp2 | a0001 | c0001 | t0004 | g0044 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18747 | hp1 | a0001 | c0001 | t0015 | g0133 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0131 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18906 | hp1 | a0001 | c0001 | t0005 | g0246 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18906 | hp2 | a0002 | c0005 | t0041 | g0138 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18939 | hp1 | a0001 | c0002 | t0001 | g0106 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18939 | hp2 | a0001 | c0002 | t0003 | g0181 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18944 | hp1 | a0001 | c0001 | t0002 | g0193 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0260 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18945 | hp1 | a0001 | c0001 | t0015 | g0090 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18945 | hp2 | a0001 | c0001 | t0002 | g0179 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18950 | hp1 | a0001 | c0002 | t0056 | g0192 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18950 | hp2 | a0001 | c0001 | t0004 | g0104 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0203 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18951 | hp2 | a0001 | c0002 | t0001 | g0188 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18956 | hp1 | a0001 | c0002 | t0003 | g0016 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18956 | hp2 | a0001 | c0001 | t0045 | g0212 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18959 | hp1 | a0001 | c0002 | t0001 | g0055 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18979 | hp1 | a0001 | c0002 | t0001 | g0164 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0191 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18980 | hp1 | a0001 | c0004 | t0025 | g0082 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18980 | hp2 | a0001 | c0001 | t0015 | g0067 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18983 | hp1 | a0001 | c0001 | t0003 | g0083 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18983 | hp2 | a0001 | c0002 | t0022 | g0194 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18984 | hp1 | a0001 | c0001 | t0049 | g0032 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18984 | hp2 | a0001 | c0001 | t0002 | g0185 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18985 | hp1 | a0001 | c0002 | t0001 | g0215 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18985 | hp2 | a0001 | c0002 | t0001 | g0136 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18987 | hp1 | a0001 | c0001 | t0004 | g0017 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18987 | hp2 | a0001 | c0002 | t0001 | g0105 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18988 | hp1 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18988 | hp2 | a0001 | c0001 | t0002 | g0236 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18993 | hp1 | a0001 | c0002 | t0001 | g0096 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18993 | hp2 | a0001 | c0001 | t0004 | g0038 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18999 | hp1 | a0001 | c0002 | t0001 | g0031 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0073 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19009 | hp1 | a0001 | c0002 | t0001 | g0100 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19009 | hp2 | a0001 | c0001 | t0003 | g0099 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19011 | hp1 | a0001 | c0001 | t0003 | g0062 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19011 | hp2 | a0001 | c0002 | t0001 | g0115 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19030 | hp1 | a0001 | c0006 | t0052 | g0263 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19030 | hp2 | a0001 | c0001 | t0021 | g0027 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19043 | hp1 | a0001 | c0001 | t0027 | g0182 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0204 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19063 | hp1 | a0001 | c0002 | t0001 | g0043 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19063 | hp2 | a0001 | c0001 | t0004 | g0200 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19074 | hp2 | a0001 | c0002 | t0001 | g0247 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19079 | hp1 | a0001 | c0002 | t0001 | g0167 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19079 | hp2 | a0001 | c0001 | t0003 | g0060 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19082 | hp1 | a0001 | c0002 | t0025 | g0144 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19082 | hp2 | a0001 | c0002 | t0001 | g0259 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19240 | hp1 | a0001 | c0001 | t0038 | g0103 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19240 | hp2 | a0001 | c0001 | t0014 | g0003 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0141 | AFR | ASW | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20129 | hp2 | a0001 | c0001 | t0018 | g0053 | AFR | ASW | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20752 | hp1 | a0001 | c0001 | t0032 | g0213 | EUR | TSI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20752 | hp2 | a0001 | c0001 | t0009 | g0108 | EUR | TSI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20905 | hp1 | a0001 | c0001 | t0006 | g0238 | SAS | GIH | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20905 | hp2 | a0001 | c0002 | t0026 | g0052 | SAS | GIH | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02109 | hp1 | a0001 | c0001 | t0007 | g0002 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02109 | hp2 | a0001 | c0001 | t0021 | g0085 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02486 | hp1 | a0001 | c0001 | t0063 | g0174 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02486 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02559 | hp1 | a0001 | c0001 | t0037 | g0163 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02559 | hp2 | a0001 | c0001 | t0008 | g0010 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03471 | hp1 | a0001 | c0001 | t0054 | g0170 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03471 | hp2 | a0001 | c0001 | t0031 | g0239 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG06807 | hp1 | a0001 | c0002 | t0001 | g0205 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG06807 | hp2 | a0001 | c0001 | t0028 | g0079 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20300 | hp1 | a0001 | c0001 | t0034 | g0077 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20300 | hp2 | a0001 | c0002 | t0013 | g0068 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA21309 | hp1 | a0001 | c0001 | t0009 | g0047 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA21309 | hp2 | a0001 | c0001 | t0046 | g0269 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0003 | g0109 | REF | REF | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0010 | g0110 | REF | REF | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41275499
|
G | A | 1 | a0002 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.1432G>A | p.Val478Ile | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1536/8567 | 1432/1557 | 478/518 | chr21 | 41275499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168362
|
C | G | 1 | a0001c0006 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.99C>G | p.Leu33Leu | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 203/8567 | 99/1557 | 33/518 | chr21 | 41168362 | ||
| chr21:41168374
|
G | A | 1 | a0001c0003 | 2 | HG02280.hp1 HG02965.hp1 |
synonymous_variant | LOW | c.111G>A | p.Ala37Ala | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 215/8567 | 111/1557 | 37/518 | chr21 | 41168374 | ||
| chr21:41246033
|
G | A | 1 | a0001c0004 | 1 | NA18980.hp1 | synonymous_variant | LOW | c.954G>A | p.Ala318Ala | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/9 | 1058/8567 | 954/1557 | 318/518 | chr21 | 41246033 | ||
| chr21:41250859
|
C | T | 2 | a0001c0002a0001c0004 | 89 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
synonymous_variant | LOW | c.1092C>T | p.Asp364Asp | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/9 | 1196/8567 | 1092/1557 | 364/518 | chr21 | 41250859 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168207
|
T | A | 1 | a0001c0002t0026 | 1 | NA20905.hp2 | 5_prime_UTR_variant | MODIFIER | c.-57T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 57 | chr21 | 41168207 | |||||
| chr21:41168246
|
C | G | 1 | a0001c0001t0063 | 1 | HG02486.hp1 | 5_prime_UTR_variant | MODIFIER | c.-18C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 18 | chr21 | 41168246 | |||||
| chr21:41275646
|
C | G | 1 | a0001c0001t0016 | 3 | HG01069.hp1 HG01071.hp1 HG01074.hp1 |
3_prime_UTR_variant | MODIFIER | c.*22C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 22 | chr21 | 41275646 | |||||
| chr21:41275651
|
A | G | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*27A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 27 | chr21 | 41275651 | |||||
| chr21:41275794
|
C | A | 1 | a0001c0001t0027 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*170C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 170 | chr21 | 41275794 | |||||
| chr21:41275832
|
T | TA | 9 | a0001c0001t0012a0001c0001t0014a0001c0001t0017others(6): Show | 14 | HG00741.hp2 HG01106.hp2 HG01167.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*218dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 219 | INFO_REALIGN_3_PRIME | chr21 | 41275832 | ||||
| chr21:41275833
|
A | T | 2 | a0001c0002t0025a0001c0004t0025 | 2 | NA18980.hp1 NA19082.hp1 |
3_prime_UTR_variant | MODIFIER | c.*209A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 209 | chr21 | 41275833 | |||||
| chr21:41275894
|
C | T | 19 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(16): Show | 96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*270C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 270 | chr21 | 41275894 | |||||
| chr21:41276033
|
T | G | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*409T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 409 | chr21 | 41276033 | |||||
| chr21:41276034
|
A | T | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*410A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 410 | chr21 | 41276034 | |||||
| chr21:41276352
|
G | A | 1 | a0001c0001t0014 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*728G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 728 | chr21 | 41276352 | |||||
| chr21:41276652
|
A | C | 2 | a0001c0001t0053a0001c0001t0054 | 2 | HG02922.hp2 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1028A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1028 | chr21 | 41276652 | |||||
| chr21:41276840
|
C | T | 50 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | 198 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(195): Show |
3_prime_UTR_variant | MODIFIER | c.*1216C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1216 | chr21 | 41276840 | |||||
| chr21:41276854
|
T | A | 2 | a0001c0001t0040a0002c0005t0041 | 2 | HG03139.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1230T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1230 | chr21 | 41276854 | |||||
| chr21:41276894
|
T | G | 20 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(17): Show | 100 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*1270T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1270 | chr21 | 41276894 | |||||
| chr21:41277013
|
T | C | 2 | a0001c0001t0014a0001c0001t0017 | 5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1389T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1389 | chr21 | 41277013 | |||||
| chr21:41277084
|
T | TC | 45 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | 191 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(188): Show |
3_prime_UTR_variant | MODIFIER | c.*1460_*1461insC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1461 | chr21 | 41277084 | |||||
| chr21:41277088
|
T | G | 2 | a0001c0001t0006a0001c0001t0033 | 12 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*1464T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1464 | chr21 | 41277088 | |||||
| chr21:41277127
|
G | A | 2 | a0001c0001t0007a0001c0001t0034 | 11 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1503G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1503 | chr21 | 41277127 | |||||
| chr21:41277135
|
T | A | 1 | a0001c0002t0022 | 2 | HG04184.hp2 NA18983.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1511T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1511 | chr21 | 41277135 | |||||
| chr21:41277284
|
A | G | 8 | a0001c0001t0003a0001c0001t0048a0001c0001t0049others(5): Show | 29 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*1660A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1660 | chr21 | 41277284 | |||||
| chr21:41277430
|
C | T | 50 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | 198 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(195): Show |
3_prime_UTR_variant | MODIFIER | c.*1806C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1806 | chr21 | 41277430 | |||||
| chr21:41277467
|
C | T | 1 | a0001c0001t0051 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1843C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1843 | chr21 | 41277467 | |||||
| chr21:41277521
|
C | T | 1 | a0001c0001t0017 | 2 | HG02723.hp1 HG03098.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1897C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1897 | chr21 | 41277521 | |||||
| chr21:41277816
|
G | A | 2 | a0001c0001t0008a0001c0001t0035 | 10 | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2192G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2192 | chr21 | 41277816 | |||||
| chr21:41277918
|
C | T | 1 | a0001c0001t0019 | 2 | HG01109.hp1 HG02922.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2294C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2294 | chr21 | 41277918 | |||||
| chr21:41277947
|
G | A | 1 | a0001c0002t0055 | 1 | HG00642.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2323G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2323 | chr21 | 41277947 | |||||
| chr21:41278026
|
C | T | 1 | a0001c0001t0031 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2402C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2402 | chr21 | 41278026 | |||||
| chr21:41278153
|
C | T | 1 | a0001c0001t0047 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2529C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2529 | chr21 | 41278153 | |||||
| chr21:41278409
|
A | C | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2785A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2785 | chr21 | 41278409 | |||||
| chr21:41278554
|
C | T | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2930C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2930 | chr21 | 41278554 | |||||
| chr21:41278727
|
A | G | 19 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(16): Show | 96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*3103A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3103 | chr21 | 41278727 | |||||
| chr21:41278739
|
G | A | 1 | a0001c0001t0006 | 11 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3115G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3115 | chr21 | 41278739 | |||||
| chr21:41278830
|
C | T | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3206C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3206 | chr21 | 41278830 | |||||
| chr21:41279032
|
G | GT | 12 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(9): Show | 48 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(45): Show |
3_prime_UTR_variant | MODIFIER | c.*3416dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3417 | INFO_REALIGN_3_PRIME | chr21 | 41279032 | ||||
| chr21:41279058
|
C | T | 1 | a0001c0001t0046 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3434C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3434 | chr21 | 41279058 | |||||
| chr21:41279114
|
C | T | 1 | a0001c0002t0058 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3490C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3490 | chr21 | 41279114 | |||||
| chr21:41279182
|
A | G | 1 | a0001c0001t0014 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3558A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3558 | chr21 | 41279182 | |||||
| chr21:41279520
|
C | T | 2 | a0001c0001t0036a0001c0002t0024 | 3 | HG01168.hp2 HG01169.hp1 HG04199.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3896C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3896 | chr21 | 41279520 | |||||
| chr21:41279553
|
C | A | 4 | a0001c0001t0003a0001c0001t0048a0001c0001t0049others(1): Show | 25 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*3929C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3929 | chr21 | 41279553 | |||||
| chr21:41279554
|
G | A | 18 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(15): Show | 94 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
3_prime_UTR_variant | MODIFIER | c.*3930G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3930 | chr21 | 41279554 | |||||
| chr21:41279568
|
G | A | 3 | a0001c0001t0004a0001c0001t0015a0001c0001t0042 | 23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*3944G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3944 | chr21 | 41279568 | |||||
| chr21:41279635
|
T | C | 31 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | 153 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(150): Show |
3_prime_UTR_variant | MODIFIER | c.*4011T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4011 | chr21 | 41279635 | |||||
| chr21:41279670
|
T | C | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4046T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4046 | chr21 | 41279670 | |||||
| chr21:41279686
|
T | G | 1 | a0001c0001t0043 | 1 | HG01981.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4062T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4062 | chr21 | 41279686 | |||||
| chr21:41279728
|
G | A | 1 | a0001c0001t0015 | 3 | NA18747.hp1 NA18945.hp1 NA18980.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4104G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4104 | chr21 | 41279728 | |||||
| chr21:41279796
|
G | A | 1 | a0001c0001t0053 | 1 | HG02922.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4172G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4172 | chr21 | 41279796 | |||||
| chr21:41279962
|
A | G | 3 | a0001c0001t0014a0001c0001t0017a0001c0001t0039 | 6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*4338A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4338 | chr21 | 41279962 | |||||
| chr21:41280019
|
T | C | 4 | a0001c0001t0004a0001c0001t0015a0001c0001t0019others(1): Show | 25 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*4395T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4395 | chr21 | 41280019 | |||||
| chr21:41280044
|
T | C | 1 | a0001c0001t0044 | 1 | HG01361.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4420T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4420 | chr21 | 41280044 | |||||
| chr21:41280225
|
G | A | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4601G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4601 | chr21 | 41280225 | |||||
| chr21:41280320
|
T | C | 1 | a0001c0002t0056 | 1 | NA18950.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4696T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4696 | chr21 | 41280320 | |||||
| chr21:41280700
|
G | A | 1 | a0001c0001t0029 | 1 | HG01106.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5076G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5076 | chr21 | 41280700 | |||||
| chr21:41280790
|
C | T | 8 | a0001c0001t0002a0001c0001t0027a0001c0001t0043others(5): Show | 31 | HG00408.hp2 HG01069.hp2 HG01243.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*5166C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5166 | chr21 | 41280790 | |||||
| chr21:41280904
|
C | T | 13 | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(10): Show | 36 | HG00741.hp2 HG01099.hp2 HG01106.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*5280C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5280 | chr21 | 41280904 | |||||
| chr21:41281087
|
C | T | 1 | a0001c0001t0042 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5463C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5463 | chr21 | 41281087 | |||||
| chr21:41281159
|
C | A | 2 | a0001c0001t0020a0001c0001t0021 | 4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5535C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5535 | chr21 | 41281159 | |||||
| chr21:41281194
|
A | G | 37 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | 159 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*5570A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5570 | chr21 | 41281194 | |||||
| chr21:41281195
|
A | G | 1 | a0001c0001t0018 | 2 | HG02738.hp1 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5571A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5571 | chr21 | 41281195 | |||||
| chr21:41281252
|
T | A | 1 | a0001c0001t0051 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5628T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5628 | chr21 | 41281252 | |||||
| chr21:41281310
|
A | G | 36 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
3_prime_UTR_variant | MODIFIER | c.*5686A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5686 | chr21 | 41281310 | |||||
| chr21:41281317
|
C | CA | 2 | a0001c0001t0020a0001c0001t0021 | 4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5694dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5695 | INFO_REALIGN_3_PRIME | chr21 | 41281317 | ||||
| chr21:41281319
|
C | T | 6 | a0001c0001t0005a0001c0001t0006a0001c0001t0033others(3): Show | 27 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*5695C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5695 | chr21 | 41281319 | |||||
| chr21:41281333
|
G | A | 2 | a0001c0001t0051a0002c0005t0041 | 2 | HG01978.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5709G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5709 | chr21 | 41281333 | |||||
| chr21:41281362
|
G | A | 36 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
3_prime_UTR_variant | MODIFIER | c.*5738G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5738 | chr21 | 41281362 | |||||
| chr21:41281375
|
A | C | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5751A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5751 | chr21 | 41281375 | |||||
| chr21:41281507
|
A | T | 36 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
3_prime_UTR_variant | MODIFIER | c.*5883A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5883 | chr21 | 41281507 | |||||
| chr21:41281541
|
C | T | 36 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
3_prime_UTR_variant | MODIFIER | c.*5917C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5917 | chr21 | 41281541 | |||||
| chr21:41281543
|
T | C | 1 | a0001c0001t0045 | 1 | NA18956.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5919T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5919 | chr21 | 41281543 | |||||
| chr21:41281552
|
C | T | 6 | a0001c0001t0007a0001c0001t0011a0001c0001t0028others(3): Show | 20 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*5928C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5928 | chr21 | 41281552 | |||||
| chr21:41281601
|
A | C | 1 | a0001c0001t0021 | 2 | HG02109.hp2 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5977A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5977 | chr21 | 41281601 | |||||
| chr21:41281608
|
C | T | 4 | a0001c0001t0013a0001c0001t0032a0001c0002t0013others(1): Show | 6 | HG01081.hp2 HG01261.hp2 HG01978.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*5984C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5984 | chr21 | 41281608 | |||||
| chr21:41281640
|
T | C | 37 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | 158 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
3_prime_UTR_variant | MODIFIER | c.*6016T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6016 | chr21 | 41281640 | |||||
| chr21:41281722
|
C | A | 67 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | 264 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(261): Show |
3_prime_UTR_variant | MODIFIER | c.*6098C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6098 | chr21 | 41281722 | |||||
| chr21:41281831
|
A | T | 1 | a0001c0001t0037 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6207A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6207 | chr21 | 41281831 | |||||
| chr21:41281834
|
T | A | 3 | a0001c0001t0012a0001c0001t0030a0001c0003t0012 | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*6210T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6210 | chr21 | 41281834 | |||||
| chr21:41281853
|
C | G | 1 | a0001c0001t0049 | 1 | NA18984.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6229C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6229 | chr21 | 41281853 | |||||
| chr21:41281880
|
G | A | 1 | a0001c0001t0040 | 1 | HG03139.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6256G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6256 | chr21 | 41281880 | |||||
| chr21:41281907
|
G | A | 2 | a0001c0001t0051a0002c0005t0041 | 2 | HG01978.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6283G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6283 | chr21 | 41281907 | |||||
| chr21:41281911
|
G | A | 1 | a0001c0001t0038 | 1 | NA19240.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6287G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6287 | chr21 | 41281911 | |||||
| chr21:41282247
|
A | T | 1 | a0001c0001t0048 | 1 | HG02602.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6623A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6623 | chr21 | 41282247 | |||||
| chr21:41282396
|
A | G | 1 | a0001c0002t0057 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6772A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6772 | chr21 | 41282396 | |||||
| chr21:41282401
|
C | T | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6777C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6777 | chr21 | 41282401 | |||||
| chr21:41282452
|
A | G | 2 | a0001c0002t0023a0001c0002t0026 | 3 | HG02683.hp1 HG02738.hp2 NA20905.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6828A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6828 | chr21 | 41282452 | |||||
| chr21:41282514
|
A | ATAAATAA others(78): Show |
1 | a0001c0001t0030 | 1 | NA18522.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6650_*6651insCCTG others(81): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6651 | INFO_REALIGN_3_PRIME | chr21 | 41282514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168633
|
TC | T | 11 | a0001c0001t0002g0007a0001c0001t0005g0005a0001c0001t0005g0008others(8): Show | 11 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.312+60delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168633 | |||||
| chr21:41168639
|
G | C | 1 | a0001c0001t0003g0013 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.312+64G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168639 | ||||||
| chr21:41168993
|
C | CCG | 11 | a0001c0001t0002g0026a0001c0001t0004g0017a0001c0001t0004g0018others(8): Show | 11 | HG01169.hp1 HG01175.hp1 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+418_312+419ins others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168993 | ||||||
| chr21:41168993
|
C | T | 3 | a0001c0001t0007g0271a0001c0001t0017g0270a0001c0001t0046g0269 | 3 | HG02723.hp1 HG02895.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.312+418C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168993 | ||||||
| chr21:41168994
|
G | C | 15 | a0001c0001t0002g0026a0001c0001t0003g0015a0001c0001t0004g0017others(12): Show | 15 | HG01169.hp1 HG01175.hp1 HG01361.hp2 others(12): Show |
intron_variant | MODIFIER | c.312+419G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168994 | ||||||
| chr21:41168994
|
G | GC | 47 | a0001c0001t0001g0226a0001c0001t0001g0234a0001c0001t0001g0251others(44): Show | 47 | HG00738.hp1 HG00738.hp2 HG01071.hp1 others(44): Show |
intron_variant | MODIFIER | c.312+429dupC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | |||||
| chr21:41168994
|
G | GCC | 16 | a0001c0001t0001g0260a0001c0001t0001g0268a0001c0001t0008g0010others(13): Show | 16 | HG00280.hp2 HG01168.hp1 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.312+428_312+429dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | |||||
| chr21:41168994
|
GC | G | 58 | a0001c0001t0002g0001a0001c0001t0002g0035a0001c0001t0002g0049others(55): Show | 59 | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(56): Show |
intron_variant | MODIFIER | c.312+429delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | |||||
| chr21:41168996
|
C | A | 2 | a0001c0002t0001g0028a0001c0002t0001g0029 | 2 | HG00741.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.312+421C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168996 | ||||||
| chr21:41169005
|
A | C | 1 | a0001c0002t0003g0016 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.312+430A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169005 | ||||||
| chr21:41169275
|
A | T | 148 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0251others(145): Show | 148 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(145): Show |
intron_variant | MODIFIER | c.312+700A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169275 | ||||||
| chr21:41169423
|
A | G | 7 | a0001c0001t0007g0078a0001c0001t0007g0210a0001c0001t0008g0080others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+848A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169423 | ||||||
| chr21:41169449
|
G | GA | 13 | a0001c0001t0004g0141a0001c0001t0005g0008a0001c0001t0005g0140others(10): Show | 13 | HG01106.hp2 HG02257.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.312+892dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | |||||
| chr21:41169449
|
G | GAA | 6 | a0001c0001t0005g0005a0001c0001t0008g0010a0001c0001t0011g0011others(3): Show | 6 | HG02258.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+891_312+892dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | |||||
| chr21:41169449
|
GA | G | 62 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0002g0001others(59): Show | 63 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(60): Show |
intron_variant | MODIFIER | c.312+892delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | |||||
| chr21:41169517
|
G | A | 8 | a0001c0001t0003g0230a0001c0001t0004g0228a0001c0001t0007g0113others(5): Show | 8 | HG00738.hp2 HG01109.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+942G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169517 | ||||||
| chr21:41169621
|
T | C | 1 | a0001c0001t0002g0206 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+1046T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169621 | ||||||
| chr21:41170112
|
G | A | 1 | a0001c0001t0005g0030 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+1537G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170112 | ||||||
| chr21:41170215
|
C | CA | 252 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(249): Show | 253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
intron_variant | MODIFIER | c.312+1651dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41170215 | |||||
| chr21:41170248
|
C | G | 24 | a0001c0001t0001g0260a0001c0001t0002g0035a0001c0001t0003g0099others(21): Show | 24 | HG00408.hp1 HG00642.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.312+1673C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170248 | ||||||
| chr21:41170264
|
A | G | 2 | a0001c0001t0006g0254a0001c0001t0011g0092 | 2 | HG01099.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.312+1689A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170264 | ||||||
| chr21:41170277
|
T | A | 54 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0002g0001others(51): Show | 55 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
intron_variant | MODIFIER | c.312+1702T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170277 | ||||||
| chr21:41170345
|
G | A | 1 | a0001c0001t0013g0114 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.312+1770G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170345 | ||||||
| chr21:41170540
|
T | C | 2 | a0001c0001t0005g0147a0001c0001t0017g0146 | 2 | HG03098.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.312+1965T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170540 | ||||||
| chr21:41170645
|
T | C | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.312+2070T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170645 | ||||||
| chr21:41170888
|
A | T | 2 | a0001c0001t0007g0271a0001c0001t0017g0270 | 2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.312+2313A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170888 | ||||||
| chr21:41171060
|
A | G | 138 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0251others(135): Show | 138 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(135): Show |
intron_variant | MODIFIER | c.312+2485A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171060 | ||||||
| chr21:41171213
|
C | T | 8 | a0001c0001t0003g0230a0001c0001t0004g0228a0001c0001t0007g0113others(5): Show | 8 | HG00738.hp2 HG01109.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+2638C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171213 | ||||||
| chr21:41171217
|
C | T | 5 | a0001c0001t0002g0149a0001c0001t0012g0152a0001c0001t0020g0150others(2): Show | 5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+2642C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171217 | ||||||
| chr21:41171239
|
T | A | 2 | a0001c0001t0006g0254a0001c0001t0011g0092 | 2 | HG01099.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.312+2664T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171239 | ||||||
| chr21:41171325
|
C | T | 2 | a0001c0001t0004g0038a0001c0002t0001g0106 | 2 | NA18939.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.312+2750C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171325 | ||||||
| chr21:41171338
|
T | G | 2 | a0001c0001t0005g0243a0001c0006t0052g0263 | 2 | HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+2763T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171338 | ||||||
| chr21:41171390
|
A | T | 2 | a0001c0001t0005g0147a0001c0001t0017g0146 | 2 | HG03098.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.312+2815A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171390 | ||||||
| chr21:41171476
|
C | G | 137 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0251others(134): Show | 137 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(134): Show |
intron_variant | MODIFIER | c.312+2901C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171476 | ||||||
| chr21:41171486
|
G | T | 3 | a0001c0002t0001g0135a0001c0002t0001g0136a0001c0002t0058g0134 | 3 | HG00733.hp1 HG01978.hp2 NA18985.hp2 |
intron_variant | MODIFIER | c.312+2911G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171486 | ||||||
| chr21:41171534
|
C | T | 2 | a0001c0002t0001g0091a0001c0002t0001g0215 | 2 | NA18612.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.312+2959C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171534 | ||||||
| chr21:41171610
|
C | T | 35 | a0001c0001t0001g0260a0001c0001t0002g0001a0001c0001t0002g0035others(32): Show | 36 | HG00408.hp1 HG00642.hp2 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.312+3035C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171610 | ||||||
| chr21:41171639
|
C | T | 2 | a0001c0001t0004g0104a0001c0002t0001g0105 | 2 | NA18950.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.312+3064C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171639 | ||||||
| chr21:41171736
|
C | T | 53 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0002g0148others(50): Show | 53 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
intron_variant | MODIFIER | c.312+3161C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171736 | ||||||
| chr21:41171801
|
T | A | 1 | a0001c0001t0002g0206 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+3226T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171801 | ||||||
| chr21:41172052
|
G | A | 1 | a0001c0001t0045g0212 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.312+3477G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172052 | ||||||
| chr21:41172088
|
T | A | 1 | a0001c0001t0003g0153 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.312+3513T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172088 | ||||||
| chr21:41172191
|
C | G | 1 | a0001c0001t0005g0030 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+3616C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172191 | ||||||
| chr21:41172218
|
G | A | 1 | a0001c0001t0005g0030 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+3643G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172218 | ||||||
| chr21:41172259
|
C | T | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.312+3684C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172259 | ||||||
| chr21:41172293
|
A | G | 5 | a0001c0001t0004g0141a0001c0001t0004g0241a0001c0001t0005g0140others(2): Show | 5 | HG02572.hp1 HG02970.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+3718A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172293 | ||||||
| chr21:41172330
|
G | C | 1 | a0001c0002t0001g0217 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.312+3755G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172330 | ||||||
| chr21:41172366
|
G | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+3791G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172366 | ||||||
| chr21:41172548
|
A | G | 5 | a0001c0001t0002g0149a0001c0001t0012g0152a0001c0001t0020g0150others(2): Show | 5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+3973A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172548 | ||||||
| chr21:41172669
|
A | G | 6 | a0001c0001t0004g0074a0001c0001t0006g0254a0001c0001t0011g0092others(3): Show | 6 | HG01099.hp2 HG02280.hp2 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+4094A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172669 | ||||||
| chr21:41172743
|
A | G | 1 | a0001c0001t0005g0147 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.312+4168A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172743 | ||||||
| chr21:41172902
|
G | T | 1 | a0001c0002t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.312+4327G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172902 | ||||||
| chr21:41172948
|
C | A | 5 | a0001c0001t0002g0149a0001c0001t0012g0152a0001c0001t0020g0150others(2): Show | 5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+4373C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172948 | ||||||
| chr21:41172966
|
G | C | 6 | a0001c0001t0004g0074a0001c0001t0006g0254a0001c0001t0011g0092others(3): Show | 6 | HG01099.hp2 HG02280.hp2 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+4391G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172966 | ||||||
| chr21:41173133
|
G | A | 2 | a0001c0001t0005g0243a0001c0006t0052g0263 | 2 | HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+4558G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173133 | ||||||
| chr21:41173323
|
T | C | 142 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0251others(139): Show | 142 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(139): Show |
intron_variant | MODIFIER | c.312+4748T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173323 | ||||||
| chr21:41173337
|
C | T | 3 | a0001c0001t0002g0007a0001c0001t0004g0072a0001c0001t0004g0202 | 3 | HG01257.hp1 HG01258.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.312+4762C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173337 | ||||||
| chr21:41173512
|
C | T | 3 | a0001c0001t0007g0201a0001c0001t0011g0071a0001c0001t0031g0239 | 3 | HG02451.hp1 HG02886.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.312+4937C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173512 | ||||||
| chr21:41173560
|
A | G | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.312+4985A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173560 | ||||||
| chr21:41174015
|
T | C | 1 | a0001c0001t0004g0241 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.312+5440T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174015 | ||||||
| chr21:41174029
|
G | A | 1 | a0001c0002t0026g0052 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.312+5454G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174029 | ||||||
| chr21:41174110
|
T | G | 255 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(252): Show | 255 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(252): Show |
intron_variant | MODIFIER | c.312+5535T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174110 | ||||||
| chr21:41174132
|
C | G | 262 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(259): Show | 263 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(260): Show |
intron_variant | MODIFIER | c.312+5557C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174132 | ||||||
| chr21:41174138
|
C | CT | 30 | a0001c0001t0001g0260a0001c0001t0002g0073a0001c0001t0002g0087others(27): Show | 30 | HG00408.hp1 HG00741.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(3): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTT | 14 | a0001c0001t0002g0049a0001c0001t0003g0099a0001c0001t0004g0017others(11): Show | 14 | HG00642.hp2 HG01884.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTT | 3 | a0001c0001t0005g0243a0001c0001t0012g0142a0001c0006t0052g0263 | 3 | HG02572.hp1 HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+5563_312+5564i others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(3): Show |
2 | a0001c0001t0005g0008a0001c0001t0017g0146 | 2 | HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.312+5563_312+5564i others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(5): Show |
1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0030g0208 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(15): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(7): Show |
13 | a0001c0001t0002g0160a0001c0001t0002g0245a0001c0001t0004g0228others(10): Show | 13 | HG02071.hp2 HG02451.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(8): Show |
22 | a0001c0001t0001g0165a0001c0001t0003g0230a0001c0001t0004g0072others(19): Show | 22 | HG00738.hp2 HG01070.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(17): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(9): Show |
19 | a0001c0001t0001g0268a0001c0001t0002g0007a0001c0001t0003g0060others(16): Show | 19 | HG00280.hp2 HG00642.hp1 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(18): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(10): Show |
10 | a0001c0001t0001g0173a0001c0001t0002g0175a0001c0001t0004g0172others(7): Show | 10 | HG01167.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(19): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(11): Show |
5 | a0001c0001t0003g0178a0001c0001t0006g0254a0001c0001t0014g0177others(2): Show | 5 | HG01099.hp2 HG01169.hp2 HG02258.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(20): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(12): Show |
4 | a0001c0001t0002g0026a0001c0001t0002g0179a0001c0001t0004g0074others(1): Show | 4 | HG02280.hp2 HG02647.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(21): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(13): Show |
1 | a0001c0001t0003g0015 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(22): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(15): Show |
4 | a0001c0001t0027g0182a0001c0002t0001g0180a0001c0002t0001g0205others(1): Show | 4 | HG02004.hp1 HG06807.hp1 NA18939.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(24): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(16): Show |
12 | a0001c0001t0001g0251a0001c0001t0002g0185a0001c0001t0002g0187others(9): Show | 12 | HG00408.hp2 HG01070.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(17): Show |
11 | a0001c0001t0002g0066a0001c0001t0002g0193a0001c0001t0003g0153others(8): Show | 11 | HG01981.hp1 HG02027.hp2 HG03491.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(18): Show |
5 | a0001c0001t0006g0199a0001c0002t0001g0115a0001c0002t0001g0197others(2): Show | 5 | HG01261.hp2 HG02056.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(27): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0004g0200 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(31): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(24): Show |
1 | a0001c0002t0003g0069 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.312+5563_312+5564i others(33): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
C | CTTTTTTT others(26): Show |
1 | a0001c0001t0002g0070 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(35): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
CCT | C | 4 | a0001c0001t0002g0206a0001c0001t0008g0010a0001c0001t0021g0085others(1): Show | 4 | HG02109.hp2 HG02486.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+5564_312+5565d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174138
|
CCTTTTT | C | 3 | a0001c0001t0007g0002a0001c0003t0005g0051a0001c0003t0012g0207 | 3 | HG02109.hp1 HG02280.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.312+5564_312+5569d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | ||||||
| chr21:41174139
|
C | CT | 9 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0004g0241others(6): Show | 9 | HG01361.hp1 HG01978.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.312+5589dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41174139 | |||||
| chr21:41174139
|
C | T | 168 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0251others(165): Show | 168 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
intron_variant | MODIFIER | c.312+5564C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174139 | ||||||
| chr21:41174175
|
G | A | 1 | a0001c0001t0003g0191 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.312+5600G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174175 | ||||||
| chr21:41174254
|
T | C | 41 | a0001c0001t0001g0260a0001c0001t0002g0035a0001c0001t0002g0073others(38): Show | 41 | HG00408.hp1 HG00642.hp2 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.312+5679T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174254 | ||||||
| chr21:41174416
|
C | T | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.312+5841C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174416 | ||||||
| chr21:41174432
|
C | T | 6 | a0001c0001t0002g0026a0001c0001t0003g0178a0001c0001t0005g0147others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+5857C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174432 | ||||||
| chr21:41174493
|
A | G | 6 | a0001c0001t0005g0030a0001c0001t0005g0240a0001c0001t0007g0050others(3): Show | 6 | HG02717.hp2 HG02818.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+5918A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174493 | ||||||
| chr21:41174519
|
T | C | 2 | a0001c0001t0039g0004a0001c0003t0012g0207 | 2 | HG02965.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.312+5944T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174519 | ||||||
| chr21:41174534
|
A | G | 235 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(232): Show | 236 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(233): Show |
intron_variant | MODIFIER | c.312+5959A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174534 | ||||||
| chr21:41174648
|
T | C | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.312+6073T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174648 | ||||||
| chr21:41174744
|
C | T | 3 | a0001c0001t0005g0008a0001c0001t0007g0002a0001c0001t0017g0146 | 3 | HG02109.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.312+6169C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174744 | ||||||
| chr21:41174810
|
T | G | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.312+6235T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174810 | ||||||
| chr21:41174890
|
C | T | 124 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0002g0026others(121): Show | 124 | HG00642.hp2 HG00738.hp2 HG00741.hp2 others(121): Show |
intron_variant | MODIFIER | c.312+6315C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174890 | ||||||
| chr21:41174976
|
A | G | 17 | a0001c0001t0002g0026a0001c0001t0002g0049a0001c0001t0003g0178others(14): Show | 17 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.312+6401A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174976 | ||||||
| chr21:41175005
|
G | A | 28 | a0001c0001t0001g0165a0001c0001t0002g0206a0001c0001t0003g0230others(25): Show | 28 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.312+6430G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175005 | ||||||
| chr21:41175366
|
A | T | 9 | a0001c0001t0002g0179a0001c0002t0001g0055a0001c0002t0001g0131others(6): Show | 9 | HG02071.hp2 HG02083.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+6791A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175366 | ||||||
| chr21:41175553
|
G | T | 12 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0004g0241others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+6978G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175553 | ||||||
| chr21:41175610
|
A | G | 1 | a0001c0001t0005g0147 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.312+7035A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175610 | ||||||
| chr21:41175829
|
G | A | 6 | a0001c0001t0001g0226a0001c0001t0002g0001a0001c0001t0016g0039others(3): Show | 7 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+7254G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175829 | ||||||
| chr21:41175908
|
C | T | 3 | a0001c0001t0001g0120a0001c0001t0051g0132a0001c0002t0001g0221 | 3 | HG00140.hp1 HG01167.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.312+7333C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175908 | ||||||
| chr21:41175960
|
C | T | 1 | a0001c0001t0053g0076 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.312+7385C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175960 | ||||||
| chr21:41175967
|
A | G | 74 | a0001c0001t0001g0260a0001c0001t0002g0007a0001c0001t0002g0035others(71): Show | 74 | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.312+7392A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175967 | ||||||
| chr21:41176111
|
T | C | 1 | a0001c0001t0007g0050 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.312+7536T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176111 | ||||||
| chr21:41176248
|
C | T | 2 | a0001c0001t0006g0238a0001c0002t0062g0014 | 2 | HG03654.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.312+7673C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176248 | ||||||
| chr21:41176259
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+7684A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176259 | ||||||
| chr21:41176297
|
A | C | 75 | a0001c0001t0001g0226a0001c0001t0001g0234a0001c0001t0001g0251others(72): Show | 76 | HG00408.hp1 HG00642.hp1 HG00642.hp2 others(73): Show |
intron_variant | MODIFIER | c.312+7722A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176297 | ||||||
| chr21:41176493
|
G | A | 2 | a0001c0001t0002g0175a0001c0001t0054g0170 | 2 | HG01243.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.312+7918G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176493 | ||||||
| chr21:41176526
|
C | T | 31 | a0001c0001t0001g0165a0001c0001t0001g0226a0001c0001t0001g0234others(28): Show | 32 | HG00642.hp1 HG01070.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.312+7951C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176526 | ||||||
| chr21:41176554
|
C | T | 41 | a0001c0001t0001g0165a0001c0001t0001g0226a0001c0001t0002g0001others(38): Show | 42 | HG00642.hp1 HG01070.hp1 HG01099.hp1 others(39): Show |
intron_variant | MODIFIER | c.312+7979C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176554 | ||||||
| chr21:41176555
|
G | A | 1 | a0001c0002t0001g0204 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.312+7980G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176555 | ||||||
| chr21:41176793
|
C | A | 2 | a0001c0001t0002g0049a0001c0001t0005g0140 | 2 | HG01884.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.312+8218C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176793 | ||||||
| chr21:41176794
|
A | G | 184 | a0001c0001t0001g0173a0001c0001t0001g0251a0001c0001t0001g0260others(181): Show | 184 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.312+8219A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176794 | ||||||
| chr21:41176852
|
G | A | 8 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0004g0228others(5): Show | 8 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+8277G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176852 | ||||||
| chr21:41176894
|
G | A | 1 | a0001c0001t0006g0171 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.312+8319G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176894 | ||||||
| chr21:41176902
|
G | C | 163 | a0001c0001t0001g0173a0001c0001t0001g0251a0001c0001t0001g0260others(160): Show | 163 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.312+8327G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176902 | ||||||
| chr21:41176973
|
A | G | 1 | a0001c0001t0009g0184 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.312+8398A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176973 | ||||||
| chr21:41177080
|
A | T | 34 | a0001c0001t0002g0087a0001c0001t0003g0178a0001c0001t0004g0074others(31): Show | 34 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(31): Show |
intron_variant | MODIFIER | c.312+8505A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177080 | ||||||
| chr21:41177195
|
G | T | 4 | a0001c0001t0003g0178a0001c0001t0008g0010a0001c0001t0020g0266others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+8620G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177195 | ||||||
| chr21:41177348
|
G | A | 4 | a0001c0001t0002g0236a0001c0001t0003g0125a0001c0002t0001g0043others(1): Show | 4 | HG02074.hp1 HG02132.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+8773G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177348 | ||||||
| chr21:41177499
|
G | A | 6 | a0001c0001t0002g0007a0001c0001t0005g0005a0001c0001t0014g0177others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+8924G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177499 | ||||||
| chr21:41177583
|
G | A | 3 | a0001c0001t0005g0246a0001c0001t0011g0011a0002c0005t0041g0138 | 3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+9008G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177583 | ||||||
| chr21:41177617
|
G | A | 1 | a0001c0002t0001g0065 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.312+9042G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177617 | ||||||
| chr21:41177635
|
G | A | 1 | a0001c0001t0027g0182 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+9060G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177635 | ||||||
| chr21:41177659
|
G | A | 35 | a0001c0001t0002g0087a0001c0001t0003g0178a0001c0001t0004g0074others(32): Show | 35 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.312+9084G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177659 | ||||||
| chr21:41177809
|
T | G | 1 | a0001c0001t0008g0267 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.312+9234T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177809 | ||||||
| chr21:41178177
|
G | A | 39 | a0001c0001t0002g0087a0001c0001t0003g0178a0001c0001t0004g0074others(36): Show | 39 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.312+9602G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178177 | ||||||
| chr21:41178346
|
A | C | 1 | a0001c0001t0009g0047 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.312+9771A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178346 | ||||||
| chr21:41178404
|
A | C | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+9829A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178404 | ||||||
| chr21:41178466
|
G | A | 42 | a0001c0001t0002g0087a0001c0001t0003g0178a0001c0001t0004g0074others(39): Show | 42 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.312+9891G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178466 | ||||||
| chr21:41178473
|
T | C | 1 | a0001c0001t0002g0149 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.312+9898T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178473 | ||||||
| chr21:41178475
|
C | G | 127 | a0001c0001t0001g0173a0001c0001t0001g0226a0001c0001t0001g0251others(124): Show | 128 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.312+9900C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178475 | ||||||
| chr21:41178480
|
T | A | 270 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(267): Show | 271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.312+9905T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178480 | ||||||
| chr21:41178569
|
A | G | 7 | a0001c0001t0002g0007a0001c0001t0004g0228a0001c0001t0005g0005others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+9994A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178569 | ||||||
| chr21:41178584
|
T | A | 1 | a0001c0001t0001g0226 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.312+10009T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178584 | ||||||
| chr21:41178654
|
T | C | 16 | a0001c0001t0002g0206a0001c0001t0004g0072a0001c0001t0004g0141others(13): Show | 16 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.312+10079T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178654 | ||||||
| chr21:41178723
|
C | T | 2 | a0001c0001t0021g0027a0001c0006t0052g0263 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.312+10148C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178723 | ||||||
| chr21:41178875
|
CTT | C | 23 | a0001c0001t0002g0087a0001c0001t0004g0074a0001c0001t0005g0024others(20): Show | 23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+10303_312+1030 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41178875 | |||||
| chr21:41179112
|
C | T | 23 | a0001c0001t0002g0087a0001c0001t0004g0074a0001c0001t0005g0024others(20): Show | 23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+10537C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179112 | ||||||
| chr21:41179133
|
TCAGGGTG others(15): Show |
T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+10581_312+1060 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179133 | |||||
| chr21:41179138
|
G | GTGAGGAG others(15): Show |
62 | a0001c0001t0002g0087a0001c0001t0002g0206a0001c0001t0003g0178others(59): Show | 62 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+10576_312+1057 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179138 | |||||
| chr21:41179203
|
T | G | 87 | a0001c0001t0002g0007a0001c0001t0002g0087a0001c0001t0002g0149others(84): Show | 87 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.312+10628T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179203 | ||||||
| chr21:41179236
|
TGTCCAGG others(15): Show |
T | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+10698_312+1071 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179236 | |||||
| chr21:41179256
|
G | A | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.312+10681G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179256 | ||||||
| chr21:41179327
|
G | A | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+10752G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179327 | ||||||
| chr21:41179335
|
G | T | 62 | a0001c0001t0002g0087a0001c0001t0002g0206a0001c0001t0003g0178others(59): Show | 62 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+10760G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179335 | ||||||
| chr21:41179506
|
G | GGGGTGAG others(33): Show |
20 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0002g0156others(17): Show | 20 | HG00642.hp1 HG01099.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+10958_312+1099 others(44): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179506 | |||||
| chr21:41179699
|
G | A | 85 | a0001c0001t0002g0007a0001c0001t0002g0087a0001c0001t0002g0149others(82): Show | 85 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(82): Show |
intron_variant | MODIFIER | c.312+11124G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179699 | ||||||
| chr21:41179816
|
T | G | 1 | a0001c0001t0036g0019 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.312+11241T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179816 | ||||||
| chr21:41179861
|
A | G | 2 | a0001c0001t0003g0013a0001c0002t0001g0025 | 2 | HG01496.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.312+11286A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179861 | ||||||
| chr21:41179899
|
G | A | 1 | a0001c0003t0005g0051 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.312+11324G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179899 | ||||||
| chr21:41179923
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+11348C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179923 | ||||||
| chr21:41180095
|
A | C | 3 | a0001c0001t0005g0147a0001c0001t0014g0003a0001c0002t0001g0205 | 3 | HG03139.hp2 HG06807.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+11520A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180095 | ||||||
| chr21:41180108
|
T | G | 1 | a0001c0001t0003g0153 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.312+11533T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180108 | ||||||
| chr21:41180220
|
G | A | 2 | a0001c0001t0002g0175a0001c0001t0054g0170 | 2 | HG01243.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.312+11645G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180220 | ||||||
| chr21:41180512
|
G | A | 3 | a0001c0001t0005g0147a0001c0001t0014g0003a0001c0002t0001g0205 | 3 | HG03139.hp2 HG06807.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+11937G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180512 | ||||||
| chr21:41180640
|
G | A | 1 | a0001c0001t0021g0027 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+12065G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180640 | ||||||
| chr21:41181140
|
G | A | 1 | a0001c0001t0007g0244 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.312+12565G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181140 | ||||||
| chr21:41181153
|
A | T | 2 | a0001c0001t0004g0104a0001c0002t0001g0105 | 2 | NA18950.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.312+12578A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181153 | ||||||
| chr21:41181200
|
G | T | 1 | a0001c0002t0001g0190 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.312+12625G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181200 | ||||||
| chr21:41181216
|
G | A | 1 | a0001c0002t0001g0180 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.312+12641G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181216 | ||||||
| chr21:41181291
|
A | G | 23 | a0001c0001t0002g0087a0001c0001t0004g0074a0001c0001t0005g0024others(20): Show | 23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+12716A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181291 | ||||||
| chr21:41181518
|
G | A | 2 | a0001c0002t0001g0111a0001c0002t0001g0225 | 2 | HG01361.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.312+12943G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181518 | ||||||
| chr21:41181551
|
C | T | 1 | a0001c0001t0027g0182 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+12976C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181551 | ||||||
| chr21:41181706
|
C | T | 18 | a0001c0001t0003g0153a0001c0001t0003g0224a0001c0001t0003g0230others(15): Show | 18 | HG00738.hp2 HG01099.hp1 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.312+13131C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181706 | ||||||
| chr21:41181884
|
C | A | 23 | a0001c0001t0002g0007a0001c0001t0003g0178a0001c0001t0004g0228others(20): Show | 23 | HG01361.hp1 HG01496.hp1 HG02055.hp2 others(20): Show |
intron_variant | MODIFIER | c.312+13309C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181884 | ||||||
| chr21:41182115
|
C | T | 28 | a0001c0001t0001g0165a0001c0001t0003g0178a0001c0001t0004g0074others(25): Show | 28 | HG01167.hp2 HG01169.hp2 HG01361.hp1 others(25): Show |
intron_variant | MODIFIER | c.312+13540C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182115 | ||||||
| chr21:41182368
|
T | A | 1 | a0001c0001t0005g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.312+13793T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182368 | ||||||
| chr21:41182385
|
C | G | 2 | a0001c0001t0004g0072a0001c0001t0004g0202 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.312+13810C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182385 | ||||||
| chr21:41182523
|
A | G | 1 | a0001c0001t0003g0041 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.312+13948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182523 | ||||||
| chr21:41182576
|
G | A | 4 | a0001c0001t0008g0080a0001c0001t0014g0177a0001c0001t0014g0250others(1): Show | 4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+14001G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182576 | ||||||
| chr21:41182586
|
T | C | 2 | a0001c0001t0001g0165a0001c0002t0001g0033 | 2 | HG02132.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.312+14011T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182586 | ||||||
| chr21:41182707
|
T | C | 44 | a0001c0001t0001g0120a0001c0001t0002g0007a0001c0001t0002g0087others(41): Show | 44 | HG00140.hp1 HG00642.hp2 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.312+14132T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182707 | ||||||
| chr21:41182830
|
A | G | 7 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(4): Show | 7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14255A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182830 | ||||||
| chr21:41182899
|
A | G | 7 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(4): Show | 7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14324A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182899 | ||||||
| chr21:41182966
|
C | T | 3 | a0001c0001t0005g0030a0001c0001t0005g0058a0001c0001t0030g0208 | 3 | HG02723.hp2 HG03225.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.312+14391C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182966 | ||||||
| chr21:41182967
|
G | A | 1 | a0001c0002t0023g0176 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.312+14392G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182967 | ||||||
| chr21:41183060
|
A | G | 7 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(4): Show | 7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14485A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183060 | ||||||
| chr21:41183070
|
A | G | 39 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0087others(36): Show | 40 | HG00642.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.312+14495A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183070 | ||||||
| chr21:41183078
|
A | G | 268 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(265): Show | 269 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(266): Show |
intron_variant | MODIFIER | c.312+14503A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183078 | ||||||
| chr21:41183244
|
G | A | 5 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14669G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183244 | ||||||
| chr21:41183476
|
T | C | 5 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14901T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183476 | ||||||
| chr21:41183483
|
A | G | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.312+14908A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183483 | ||||||
| chr21:41183543
|
A | G | 5 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14968A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183543 | ||||||
| chr21:41183549
|
G | A | 6 | a0001c0001t0003g0178a0001c0001t0007g0002a0001c0001t0011g0264others(3): Show | 6 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+14974G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183549 | ||||||
| chr21:41183628
|
C | A | 5 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+15053C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183628 | ||||||
| chr21:41183689
|
A | C | 5 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0240others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+15114A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183689 | ||||||
| chr21:41183811
|
C | G | 1 | a0001c0001t0003g0060 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.312+15236C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183811 | ||||||
| chr21:41183834
|
T | C | 1 | a0001c0002t0055g0168 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.312+15259T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183834 | ||||||
| chr21:41183840
|
T | C | 2 | a0001c0001t0005g0140a0001c0001t0011g0088 | 2 | HG02809.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.312+15265T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183840 | ||||||
| chr21:41183859
|
G | T | 12 | a0001c0001t0003g0178a0001c0001t0007g0002a0001c0001t0008g0080others(9): Show | 12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.312+15284G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183859 | ||||||
| chr21:41183976
|
A | G | 1 | a0001c0001t0021g0027 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+15401A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183976 | ||||||
| chr21:41184093
|
T | C | 1 | a0001c0001t0030g0208 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+15518T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184093 | ||||||
| chr21:41184274
|
C | A | 1 | a0001c0001t0006g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.312+15699C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184274 | ||||||
| chr21:41184275
|
C | T | 1 | a0001c0001t0021g0027 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+15700C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184275 | ||||||
| chr21:41184335
|
T | A | 4 | a0001c0001t0008g0080a0001c0001t0014g0177a0001c0001t0014g0250others(1): Show | 4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+15760T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184335 | ||||||
| chr21:41184407
|
C | T | 3 | a0001c0001t0005g0147a0001c0001t0014g0003a0001c0001t0053g0076 | 3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+15832C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184407 | ||||||
| chr21:41184483
|
G | A | 29 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0004g0023others(26): Show | 29 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.312+15908G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184483 | ||||||
| chr21:41184486
|
A | T | 24 | a0001c0001t0003g0230a0001c0001t0005g0024a0001c0001t0005g0140others(21): Show | 24 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.312+15911A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184486 | ||||||
| chr21:41184592
|
G | C | 19 | a0001c0001t0003g0230a0001c0001t0005g0024a0001c0001t0005g0161others(16): Show | 19 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.312+16017G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184592 | ||||||
| chr21:41184691
|
CATT | C | 35 | a0001c0001t0002g0148a0001c0001t0003g0178a0001c0001t0003g0230others(32): Show | 35 | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(32): Show |
intron_variant | MODIFIER | c.312+16118_312+1612 others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41184691 | |||||
| chr21:41184766
|
A | G | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.312+16191A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184766 | ||||||
| chr21:41184819
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.312+16244G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184819 | ||||||
| chr21:41184958
|
A | G | 109 | a0001c0001t0001g0165a0001c0001t0002g0070a0001c0001t0002g0087others(106): Show | 109 | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(106): Show |
intron_variant | MODIFIER | c.312+16383A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184958 | ||||||
| chr21:41185182
|
T | C | 2 | a0001c0002t0003g0216a0001c0002t0003g0258 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.312+16607T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185182 | ||||||
| chr21:41185423
|
C | A | 1 | a0001c0001t0020g0150 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.312+16848C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185423 | ||||||
| chr21:41185437
|
T | C | 6 | a0001c0001t0005g0240a0001c0001t0006g0169a0001c0001t0008g0034others(3): Show | 6 | HG02622.hp2 HG02717.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+16862T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185437 | ||||||
| chr21:41185550
|
T | C | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+16975T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185550 | ||||||
| chr21:41185689
|
C | T | 1 | a0001c0001t0004g0074 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.312+17114C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185689 | ||||||
| chr21:41185715
|
G | A | 4 | a0001c0002t0001g0111a0001c0002t0001g0166a0001c0002t0001g0225others(1): Show | 4 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+17140G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185715 | ||||||
| chr21:41185763
|
G | T | 1 | a0001c0003t0005g0051 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.312+17188G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185763 | ||||||
| chr21:41185791
|
G | A | 10 | a0001c0001t0001g0165a0001c0001t0005g0147a0001c0001t0005g0240others(7): Show | 10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+17216G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185791 | ||||||
| chr21:41185801
|
G | A | 1 | a0001c0001t0005g0140 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.312+17226G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185801 | ||||||
| chr21:41185836
|
C | T | 2 | a0001c0001t0003g0062a0001c0001t0003g0083 | 2 | NA18983.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.312+17261C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185836 | ||||||
| chr21:41185939
|
C | G | 10 | a0001c0001t0001g0165a0001c0001t0005g0147a0001c0001t0005g0240others(7): Show | 10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+17364C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185939 | ||||||
| chr21:41185940
|
G | A | 1 | a0001c0001t0005g0008 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.312+17365G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185940 | ||||||
| chr21:41186041
|
A | C | 2 | a0001c0001t0005g0246a0002c0005t0041g0138 | 2 | NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+17466A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186041 | ||||||
| chr21:41186224
|
C | G | 22 | a0001c0001t0004g0072a0001c0001t0004g0074a0001c0001t0004g0202others(19): Show | 22 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+17649C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186224 | ||||||
| chr21:41186262
|
G | A | 1 | a0001c0001t0005g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.312+17687G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186262 | ||||||
| chr21:41186472
|
C | T | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+17897C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186472 | ||||||
| chr21:41186526
|
C | G | 8 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0005g0246others(5): Show | 8 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+17951C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186526 | ||||||
| chr21:41186611
|
C | T | 9 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0005others(6): Show | 9 | HG01106.hp2 HG01257.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.312+18036C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186611 | ||||||
| chr21:41186668
|
T | C | 1 | a0001c0002t0001g0221 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.312+18093T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186668 | ||||||
| chr21:41186728
|
C | T | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18153C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186728 | ||||||
| chr21:41186729
|
G | A | 8 | a0001c0001t0004g0072a0001c0001t0004g0202a0001c0001t0005g0005others(5): Show | 8 | HG01257.hp1 HG01258.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+18154G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186729 | ||||||
| chr21:41186767
|
T | C | 12 | a0001c0001t0003g0013a0001c0001t0004g0023a0001c0001t0004g0141others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+18192T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186767 | ||||||
| chr21:41186834
|
A | G | 5 | a0001c0001t0005g0147a0001c0001t0007g0075a0001c0001t0014g0003others(2): Show | 5 | HG02896.hp1 HG02965.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18259A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186834 | ||||||
| chr21:41186972
|
G | A | 10 | a0001c0001t0001g0165a0001c0001t0005g0147a0001c0001t0005g0240others(7): Show | 10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+18397G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186972 | ||||||
| chr21:41187069
|
C | G | 1 | a0001c0001t0021g0027 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+18494C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187069 | ||||||
| chr21:41187070
|
C | T | 8 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(5): Show | 8 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+18495C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187070 | ||||||
| chr21:41187093
|
G | A | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18518G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187093 | ||||||
| chr21:41187121
|
G | A | 14 | a0001c0001t0004g0074a0001c0001t0008g0080a0001c0001t0008g0086others(11): Show | 14 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+18546G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187121 | ||||||
| chr21:41187134
|
G | A | 3 | a0001c0001t0005g0246a0001c0001t0011g0011a0002c0005t0041g0138 | 3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+18559G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187134 | ||||||
| chr21:41187284
|
C | T | 7 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0006g0169others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+18709C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187284 | ||||||
| chr21:41187543
|
T | A | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18968T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187543 | ||||||
| chr21:41187562
|
A | G | 1 | a0001c0001t0030g0208 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+18987A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187562 | ||||||
| chr21:41187769
|
G | A | 2 | a0001c0001t0003g0230a0001c0001t0005g0161 | 2 | HG00738.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.312+19194G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187769 | ||||||
| chr21:41188124
|
A | G | 12 | a0001c0001t0003g0013a0001c0001t0004g0023a0001c0001t0004g0141others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19549A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188124 | ||||||
| chr21:41188149
|
A | G | 12 | a0001c0001t0003g0013a0001c0001t0004g0023a0001c0001t0004g0141others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19574A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188149 | ||||||
| chr21:41188158
|
G | T | 12 | a0001c0001t0003g0013a0001c0001t0004g0023a0001c0001t0004g0141others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19583G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188158 | ||||||
| chr21:41188186
|
A | C | 9 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(6): Show | 9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+19611A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188186 | ||||||
| chr21:41188390
|
T | A | 24 | a0001c0001t0004g0072a0001c0001t0004g0074a0001c0001t0004g0202others(21): Show | 24 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.312+19815T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188390 | ||||||
| chr21:41188559
|
C | T | 7 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0006g0169others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+19984C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188559 | ||||||
| chr21:41188560
|
AC | A | 12 | a0001c0001t0003g0013a0001c0001t0004g0023a0001c0001t0004g0141others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19992delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41188560 | |||||
| chr21:41188562
|
C | A | 2 | a0001c0001t0006g0169a0001c0001t0008g0034 | 2 | HG02622.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.312+19987C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | ||||||
| chr21:41188562
|
C | G | 1 | a0001c0001t0015g0067 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.312+19987C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | ||||||
| chr21:41188562
|
C | T | 4 | a0001c0001t0005g0240a0001c0001t0017g0146a0001c0001t0038g0103others(1): Show | 4 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+19987C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | ||||||
| chr21:41188614
|
G | A | 3 | a0001c0001t0001g0226a0001c0001t0013g0114a0001c0002t0001g0121 | 3 | HG00140.hp2 HG01081.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.312+20039G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188614 | ||||||
| chr21:41188631
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+20056A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188631 | ||||||
| chr21:41188830
|
A | G | 9 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(6): Show | 9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+20255A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188830 | ||||||
| chr21:41189078
|
A | G | 9 | a0001c0001t0002g0007a0001c0001t0007g0078a0001c0001t0007g0089others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+20503A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189078 | ||||||
| chr21:41189107
|
A | G | 50 | a0001c0001t0002g0087a0001c0001t0003g0015a0001c0001t0003g0178others(47): Show | 50 | HG00741.hp2 HG01069.hp2 HG01099.hp1 others(47): Show |
intron_variant | MODIFIER | c.312+20532A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189107 | ||||||
| chr21:41189140
|
A | G | 4 | a0001c0002t0001g0040a0001c0002t0001g0065a0001c0002t0001g0235others(1): Show | 4 | HG01952.hp2 HG01981.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+20565A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189140 | ||||||
| chr21:41189194
|
T | TA | 10 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0001t0033g0037others(7): Show | 10 | HG01167.hp1 HG01361.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.312+20633dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41189194 | |||||
| chr21:41189194
|
T | TAA | 70 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0003g0013others(67): Show | 70 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(67): Show |
intron_variant | MODIFIER | c.312+20632_312+2063 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41189194 | |||||
| chr21:41189239
|
A | G | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+20664A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189239 | ||||||
| chr21:41189778
|
A | G | 7 | a0001c0001t0002g0148a0001c0001t0032g0213a0001c0001t0051g0132others(4): Show | 7 | HG00642.hp1 HG01167.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+21203A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189778 | ||||||
| chr21:41189807
|
A | G | 1 | a0001c0002t0022g0194 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.312+21232A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189807 | ||||||
| chr21:41189921
|
T | C | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+21346T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189921 | ||||||
| chr21:41189934
|
G | T | 18 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(15): Show | 18 | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.312+21359G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189934 | ||||||
| chr21:41189969
|
A | G | 22 | a0001c0001t0003g0178a0001c0001t0004g0074a0001c0001t0005g0140others(19): Show | 22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+21394A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189969 | ||||||
| chr21:41190099
|
C | T | 75 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0003g0013others(72): Show | 75 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(72): Show |
intron_variant | MODIFIER | c.312+21524C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190099 | ||||||
| chr21:41190194
|
A | T | 4 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0009g0229others(1): Show | 4 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+21619A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190194 | ||||||
| chr21:41190346
|
T | C | 8 | a0001c0001t0003g0178a0001c0001t0005g0140a0001c0001t0007g0002others(5): Show | 8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+21771T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190346 | ||||||
| chr21:41190418
|
G | A | 11 | a0001c0001t0004g0074a0001c0001t0008g0080a0001c0001t0008g0086others(8): Show | 11 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+21843G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190418 | ||||||
| chr21:41190547
|
G | A | 5 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0009g0229others(2): Show | 5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+21972G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190547 | ||||||
| chr21:41190794
|
C | T | 1 | a0001c0001t0004g0228 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.312+22219C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190794 | ||||||
| chr21:41190808
|
T | C | 9 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(6): Show | 9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+22233T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190808 | ||||||
| chr21:41190850
|
G | A | 3 | a0001c0001t0007g0075a0001c0001t0031g0239a0001c0003t0012g0207 | 3 | HG02896.hp1 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.312+22275G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190850 | ||||||
| chr21:41191159
|
G | A | 3 | a0001c0001t0005g0240a0001c0001t0038g0103a0001c0001t0061g0098 | 3 | HG03209.hp1 HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.312+22584G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191159 | ||||||
| chr21:41191335
|
A | G | 76 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0003g0013others(73): Show | 76 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(73): Show |
intron_variant | MODIFIER | c.312+22760A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191335 | ||||||
| chr21:41191390
|
A | G | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+22815A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191390 | ||||||
| chr21:41191397
|
C | T | 22 | a0001c0001t0002g0148a0001c0001t0003g0013a0001c0001t0004g0141others(19): Show | 22 | HG00642.hp1 HG01109.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.312+22822C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191397 | ||||||
| chr21:41191402
|
G | T | 22 | a0001c0001t0003g0178a0001c0001t0004g0074a0001c0001t0005g0140others(19): Show | 22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+22827G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191402 | ||||||
| chr21:41191425
|
G | A | 9 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(6): Show | 9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+22850G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191425 | ||||||
| chr21:41191451
|
T | C | 87 | a0001c0001t0001g0165a0001c0001t0002g0087a0001c0001t0002g0148others(84): Show | 87 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.312+22876T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191451 | ||||||
| chr21:41191485
|
T | C | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+22910T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191485 | ||||||
| chr21:41191548
|
C | T | 14 | a0001c0001t0004g0074a0001c0001t0008g0080a0001c0001t0008g0086others(11): Show | 14 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+22973C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191548 | ||||||
| chr21:41191606
|
T | C | 7 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0006g0169others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+23031T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191606 | ||||||
| chr21:41191674
|
G | A | 7 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0006g0169others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+23099G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191674 | ||||||
| chr21:41191871
|
A | G | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23296A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191871 | ||||||
| chr21:41191875
|
A | T | 9 | a0001c0001t0003g0015a0001c0001t0004g0200a0001c0002t0001g0111others(6): Show | 9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+23300A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191875 | ||||||
| chr21:41191938
|
T | C | 2 | a0001c0001t0015g0090a0001c0002t0001g0247 | 2 | NA18945.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.312+23363T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191938 | ||||||
| chr21:41191954
|
A | ATCATGCT others(6): Show |
5 | a0001c0001t0005g0147a0001c0001t0007g0075a0001c0001t0014g0003others(2): Show | 5 | HG02896.hp1 HG02965.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23380_312+2339 others(17): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41191954 | |||||
| chr21:41192159
|
G | A | 1 | a0001c0001t0003g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.312+23584G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192159 | ||||||
| chr21:41192163
|
A | G | 22 | a0001c0001t0003g0178a0001c0001t0004g0074a0001c0001t0005g0140others(19): Show | 22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+23588A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192163 | ||||||
| chr21:41192257
|
C | T | 74 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0003g0013others(71): Show | 74 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(71): Show |
intron_variant | MODIFIER | c.312+23682C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192257 | ||||||
| chr21:41192316
|
C | T | 1 | a0001c0002t0001g0262 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.312+23741C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192316 | ||||||
| chr21:41192319
|
T | A | 2 | a0001c0001t0002g0185a0001c0002t0001g0100 | 2 | NA18984.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.312+23744T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192319 | ||||||
| chr21:41192418
|
A | G | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23843A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192418 | ||||||
| chr21:41192545
|
A | G | 7 | a0001c0001t0003g0178a0001c0001t0007g0002a0001c0001t0011g0088others(4): Show | 7 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+23970A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192545 | ||||||
| chr21:41192546
|
G | A | 6 | a0001c0001t0002g0148a0001c0001t0051g0132a0001c0002t0001g0118others(3): Show | 6 | HG00642.hp1 HG01167.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+23971G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192546 | ||||||
| chr21:41192561
|
G | T | 1 | a0001c0001t0008g0267 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.312+23986G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192561 | ||||||
| chr21:41192725
|
A | G | 1 | a0001c0001t0004g0218 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.312+24150A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192725 | ||||||
| chr21:41192806
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+24231C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192806 | ||||||
| chr21:41192822
|
A | C | 1 | a0001c0001t0003g0041 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.312+24247A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192822 | ||||||
| chr21:41192844
|
G | A | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+24269G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192844 | ||||||
| chr21:41192853
|
A | G | 5 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0009g0229others(2): Show | 5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+24278A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192853 | ||||||
| chr21:41192916
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+24341A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192916 | ||||||
| chr21:41192997
|
A | G | 1 | a0001c0001t0002g0206 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+24422A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192997 | ||||||
| chr21:41193118
|
C | T | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+24543C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193118 | ||||||
| chr21:41193154
|
A | C | 4 | a0001c0001t0005g0240a0001c0001t0017g0146a0001c0001t0038g0103others(1): Show | 4 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+24579A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193154 | ||||||
| chr21:41193220
|
C | T | 5 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+24645C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193220 | ||||||
| chr21:41193374
|
A | G | 1 | a0001c0001t0053g0076 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.312+24799A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193374 | ||||||
| chr21:41193435
|
T | A | 3 | a0001c0001t0005g0246a0001c0001t0011g0011a0002c0005t0041g0138 | 3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+24860T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193435 | ||||||
| chr21:41193439
|
C | G | 10 | a0001c0001t0002g0087a0001c0001t0004g0228a0001c0001t0006g0254others(7): Show | 10 | HG01069.hp2 HG01099.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+24864C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193439 | ||||||
| chr21:41193460
|
G | T | 1 | a0001c0002t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.312+24885G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193460 | ||||||
| chr21:41193647
|
G | C | 8 | a0001c0001t0003g0178a0001c0001t0005g0140a0001c0001t0007g0002others(5): Show | 8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+25072G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193647 | ||||||
| chr21:41193722
|
A | G | 2 | a0001c0001t0003g0178a0001c0001t0021g0085 | 2 | HG02109.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.312+25147A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193722 | ||||||
| chr21:41193976
|
A | T | 1 | a0001c0002t0001g0180 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.312+25401A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193976 | ||||||
| chr21:41193991
|
G | A | 5 | a0001c0001t0002g0007a0001c0001t0005g0240a0001c0001t0017g0146others(2): Show | 5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+25416G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193991 | ||||||
| chr21:41194205
|
T | C | 26 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0003g0015others(23): Show | 26 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.312+25630T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194205 | ||||||
| chr21:41194215
|
A | G | 1 | a0001c0002t0057g0057 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.312+25640A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194215 | ||||||
| chr21:41194218
|
A | G | 35 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0003g0015others(32): Show | 35 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.312+25643A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194218 | ||||||
| chr21:41194270
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+25695C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194270 | ||||||
| chr21:41194453
|
A | G | 9 | a0001c0001t0004g0241a0001c0001t0007g0078a0001c0001t0007g0089others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+25878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194453 | ||||||
| chr21:41194467
|
T | C | 1 | a0001c0001t0001g0260 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.312+25892T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194467 | ||||||
| chr21:41194470
|
G | A | 3 | a0001c0001t0005g0246a0001c0001t0011g0011a0002c0005t0041g0138 | 3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+25895G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194470 | ||||||
| chr21:41194546
|
G | C | 7 | a0001c0001t0003g0013a0001c0001t0004g0141a0001c0001t0006g0169others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+25971G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194546 | ||||||
| chr21:41194592
|
G | A | 33 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0003g0015others(30): Show | 33 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(30): Show |
intron_variant | MODIFIER | c.312+26017G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194592 | ||||||
| chr21:41194658
|
C | T | 84 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(81): Show | 84 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(81): Show |
intron_variant | MODIFIER | c.312+26083C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194658 | ||||||
| chr21:41194879
|
C | T | 14 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0002g0156others(11): Show | 14 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+26304C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194879 | ||||||
| chr21:41194914
|
A | G | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+26339A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194914 | ||||||
| chr21:41194946
|
C | A | 1 | a0001c0001t0020g0150 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.312+26371C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194946 | ||||||
| chr21:41195005
|
G | A | 1 | a0001c0001t0009g0119 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.312+26430G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195005 | ||||||
| chr21:41195124
|
G | A | 24 | a0001c0001t0002g0187a0001c0001t0003g0178a0001c0001t0004g0074others(21): Show | 24 | HG00408.hp2 HG00741.hp2 HG01167.hp2 others(21): Show |
intron_variant | MODIFIER | c.312+26549G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195124 | ||||||
| chr21:41195194
|
G | C | 15 | a0001c0001t0001g0165a0001c0001t0002g0087a0001c0001t0002g0148others(12): Show | 15 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.312+26619G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195194 | ||||||
| chr21:41195210
|
C | T | 62 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(59): Show | 62 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+26635C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195210 | ||||||
| chr21:41195486
|
G | A | 3 | a0001c0001t0007g0075a0001c0001t0031g0239a0001c0003t0012g0207 | 3 | HG02896.hp1 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.312+26911G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195486 | ||||||
| chr21:41195499
|
C | T | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+26924C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195499 | ||||||
| chr21:41195522
|
G | A | 5 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0009g0229others(2): Show | 5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+26947G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195522 | ||||||
| chr21:41195641
|
A | G | 1 | a0001c0001t0035g0112 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.312+27066A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195641 | ||||||
| chr21:41195710
|
G | T | 82 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(79): Show | 82 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.312+27135G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195710 | ||||||
| chr21:41195981
|
T | G | 3 | a0001c0001t0002g0148a0001c0002t0001g0118a0001c0002t0055g0168 | 3 | HG00642.hp1 HG03239.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.312+27406T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195981 | ||||||
| chr21:41196113
|
C | T | 1 | a0001c0002t0001g0215 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.312+27538C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196113 | ||||||
| chr21:41196158
|
C | T | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.312+27583C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196158 | ||||||
| chr21:41196175
|
G | A | 2 | a0001c0001t0003g0178a0001c0001t0021g0085 | 2 | HG02109.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.312+27600G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196175 | ||||||
| chr21:41196225
|
G | A | 18 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0004g0018others(15): Show | 18 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.312+27650G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196225 | ||||||
| chr21:41196237
|
T | G | 270 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(267): Show | 271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.312+27662T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196237 | ||||||
| chr21:41196259
|
A | G | 8 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0007g0075others(5): Show | 8 | HG02615.hp1 HG02896.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+27684A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196259 | ||||||
| chr21:41196315
|
CA | C | 77 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(74): Show | 77 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.312+27753delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41196315 | |||||
| chr21:41196492
|
G | T | 7 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0004g0018others(4): Show | 7 | HG00280.hp2 HG01074.hp2 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+27917G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196492 | ||||||
| chr21:41196784
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+28209C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196784 | ||||||
| chr21:41196852
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+28277C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196852 | ||||||
| chr21:41197023
|
A | G | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+28448A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197023 | ||||||
| chr21:41197213
|
G | A | 19 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0001others(16): Show | 20 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+28638G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197213 | ||||||
| chr21:41197266
|
G | GT | 29 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0001others(26): Show | 30 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.312+28699dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197266 | |||||
| chr21:41197275
|
G | T | 32 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0001others(29): Show | 33 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.312+28700G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197275 | ||||||
| chr21:41197275
|
GT | G | 20 | a0001c0001t0002g0148a0001c0001t0002g0236a0001c0001t0003g0013others(17): Show | 20 | HG00642.hp1 HG01099.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+28715delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197275 | |||||
| chr21:41197655
|
TA | T | 14 | a0001c0001t0003g0015a0001c0001t0003g0178a0001c0001t0004g0200others(11): Show | 14 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-28599delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197655 | |||||
| chr21:41197670
|
G | A | 1 | a0001c0002t0001g0033 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.313-28596G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197670 | ||||||
| chr21:41197672
|
A | C | 18 | a0001c0001t0004g0023a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28594A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197672 | ||||||
| chr21:41197820
|
A | G | 7 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(4): Show | 7 | HG02630.hp2 HG02723.hp2 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-28446A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197820 | ||||||
| chr21:41197916
|
A | G | 3 | a0001c0001t0005g0246a0001c0001t0011g0011a0002c0005t0041g0138 | 3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.313-28350A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197916 | ||||||
| chr21:41197943
|
T | A | 5 | a0001c0001t0002g0007a0001c0001t0005g0240a0001c0001t0017g0146others(2): Show | 5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-28323T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197943 | ||||||
| chr21:41198061
|
G | A | 4 | a0001c0001t0003g0060a0001c0001t0048g0130a0001c0002t0001g0036others(1): Show | 4 | HG02071.hp1 HG02602.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-28205G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198061 | ||||||
| chr21:41198099
|
C | G | 18 | a0001c0001t0001g0165a0001c0001t0002g0148a0001c0001t0003g0013others(15): Show | 18 | HG00642.hp1 HG01099.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-28167C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198099 | ||||||
| chr21:41198117
|
A | G | 18 | a0001c0001t0004g0023a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28149A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198117 | ||||||
| chr21:41198160
|
G | T | 18 | a0001c0001t0004g0023a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28106G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198160 | ||||||
| chr21:41198193
|
G | A | 1 | a0001c0001t0005g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.313-28073G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198193 | ||||||
| chr21:41198317
|
T | C | 107 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(104): Show | 107 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.313-27949T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198317 | ||||||
| chr21:41198428
|
G | A | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-27838G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198428 | ||||||
| chr21:41198518
|
C | T | 71 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(68): Show | 71 | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(68): Show |
intron_variant | MODIFIER | c.313-27748C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198518 | ||||||
| chr21:41198640
|
C | T | 1 | a0001c0001t0002g0154 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.313-27626C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198640 | ||||||
| chr21:41198707
|
T | G | 5 | a0001c0001t0002g0007a0001c0001t0005g0240a0001c0001t0017g0146others(2): Show | 5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-27559T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198707 | ||||||
| chr21:41198774
|
C | G | 20 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0004g0018others(17): Show | 20 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.313-27492C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198774 | ||||||
| chr21:41198849
|
T | TTTTA | 39 | a0001c0001t0002g0154a0001c0001t0004g0023a0001c0001t0004g0104others(36): Show | 39 | HG00733.hp2 HG01109.hp1 HG01496.hp2 others(36): Show |
intron_variant | MODIFIER | c.313-27382_313-2737 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | |||||
| chr21:41198849
|
T | TTTTATTT others(1): Show |
26 | a0001c0001t0002g0007a0001c0001t0002g0148a0001c0001t0003g0013others(23): Show | 26 | HG00642.hp1 HG01099.hp1 HG01257.hp1 others(23): Show |
intron_variant | MODIFIER | c.313-27386_313-2737 others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | |||||
| chr21:41198849
|
T | TTTTATTT others(5): Show |
1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-27390_313-2737 others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | |||||
| chr21:41198849
|
TTTTA | T | 12 | a0001c0001t0001g0165a0001c0001t0002g0149a0001c0001t0002g0179others(9): Show | 12 | HG01099.hp2 HG01109.hp2 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.313-27382_313-2737 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | |||||
| chr21:41198853
|
A | T | 8 | a0001c0001t0003g0178a0001c0001t0005g0140a0001c0001t0007g0002others(5): Show | 8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-27413A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198853 | ||||||
| chr21:41198857
|
A | T | 4 | a0001c0001t0002g0149a0001c0001t0008g0012a0001c0001t0011g0063others(1): Show | 4 | HG01884.hp1 HG02257.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-27409A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198857 | ||||||
| chr21:41198888
|
A | G | 15 | a0001c0001t0004g0023a0001c0001t0004g0214a0001c0001t0005g0008others(12): Show | 15 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-27378A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198888 | ||||||
| chr21:41198914
|
T | C | 73 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(70): Show | 73 | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(70): Show |
intron_variant | MODIFIER | c.313-27352T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198914 | ||||||
| chr21:41199023
|
C | T | 9 | a0001c0001t0002g0148a0001c0001t0003g0015a0001c0002t0001g0111others(6): Show | 9 | HG00642.hp1 HG01099.hp1 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-27243C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199023 | ||||||
| chr21:41199084
|
A | G | 15 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(12): Show | 15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-27182A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199084 | ||||||
| chr21:41199257
|
G | T | 1 | a0001c0002t0001g0115 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.313-27009G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199257 | ||||||
| chr21:41199488
|
C | G | 2 | a0001c0001t0027g0182a0001c0002t0001g0205 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-26778C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199488 | ||||||
| chr21:41199643
|
G | A | 4 | a0001c0001t0002g0149a0001c0001t0008g0012a0001c0001t0011g0063others(1): Show | 4 | HG01884.hp1 HG02257.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-26623G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199643 | ||||||
| chr21:41199814
|
G | A | 110 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(107): Show | 110 | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(107): Show |
intron_variant | MODIFIER | c.313-26452G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199814 | ||||||
| chr21:41199872
|
C | T | 1 | a0001c0001t0002g0154 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.313-26394C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199872 | ||||||
| chr21:41199903
|
C | T | 1 | a0001c0002t0001g0247 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.313-26363C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199903 | ||||||
| chr21:41199981
|
A | C | 2 | a0001c0001t0027g0182a0001c0002t0001g0205 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-26285A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199981 | ||||||
| chr21:41200080
|
A | C | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-26186A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200080 | ||||||
| chr21:41200113
|
A | G | 26 | a0001c0001t0002g0087a0001c0001t0002g0160a0001c0001t0002g0175others(23): Show | 26 | HG01069.hp2 HG01243.hp2 HG02055.hp2 others(23): Show |
intron_variant | MODIFIER | c.313-26153A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200113 | ||||||
| chr21:41200202
|
C | A | 40 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(37): Show | 40 | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.313-26064C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200202 | ||||||
| chr21:41200202
|
C | CA | 13 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(10): Show | 13 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-26054dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200202 | |||||
| chr21:41200202
|
CA | C | 8 | a0001c0001t0002g0149a0001c0001t0008g0012a0001c0001t0011g0063others(5): Show | 8 | HG01106.hp2 HG01884.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-26054delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200202 | |||||
| chr21:41200203
|
A | C | 40 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(37): Show | 40 | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.313-26063A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200203 | ||||||
| chr21:41200212
|
A | C | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-26054A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200212 | ||||||
| chr21:41200212
|
AC | A | 16 | a0001c0001t0002g0148a0001c0001t0002g0156a0001c0001t0003g0015others(13): Show | 16 | HG00642.hp1 HG01099.hp1 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.313-26051delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200212 | |||||
| chr21:41200213
|
C | A | 14 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(11): Show | 14 | HG00741.hp2 HG01099.hp2 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-26053C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200213 | ||||||
| chr21:41200321
|
A | T | 12 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058others(9): Show | 12 | HG02630.hp2 HG02723.hp2 HG02965.hp1 others(9): Show |
intron_variant | MODIFIER | c.313-25945A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200321 | ||||||
| chr21:41200417
|
A | C | 39 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(36): Show | 39 | HG00280.hp2 HG01070.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.313-25849A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200417 | ||||||
| chr21:41200418
|
T | C | 5 | a0001c0001t0004g0214a0001c0001t0005g0008a0001c0001t0009g0229others(2): Show | 5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.313-25848T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200418 | ||||||
| chr21:41200477
|
C | T | 2 | a0001c0001t0005g0147a0001c0001t0014g0003 | 2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-25789C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200477 | ||||||
| chr21:41200478
|
G | A | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-25788G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200478 | ||||||
| chr21:41200493
|
G | A | 13 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(10): Show | 13 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-25773G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200493 | ||||||
| chr21:41200536
|
G | A | 2 | a0001c0001t0002g0149a0001c0001t0011g0063 | 2 | HG02886.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.313-25730G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200536 | ||||||
| chr21:41200548
|
C | T | 1 | a0001c0001t0019g0211 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.313-25718C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200548 | ||||||
| chr21:41200587
|
C | T | 38 | a0001c0001t0001g0165a0001c0001t0002g0148a0001c0001t0002g0149others(35): Show | 38 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.313-25679C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200587 | ||||||
| chr21:41200722
|
T | C | 29 | a0001c0001t0002g0149a0001c0001t0003g0178a0001c0001t0004g0072others(26): Show | 29 | HG00741.hp2 HG01099.hp2 HG01257.hp1 others(26): Show |
intron_variant | MODIFIER | c.313-25544T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200722 | ||||||
| chr21:41200775
|
A | T | 37 | a0001c0001t0002g0149a0001c0001t0003g0178a0001c0001t0004g0072others(34): Show | 37 | HG00741.hp2 HG01099.hp2 HG01167.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-25491A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200775 | ||||||
| chr21:41200782
|
G | A | 1 | a0001c0001t0003g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-25484G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200782 | ||||||
| chr21:41200847
|
C | G | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-25419C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200847 | ||||||
| chr21:41200901
|
C | T | 6 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0006g0107others(3): Show | 6 | HG00280.hp2 HG01070.hp1 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-25365C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200901 | ||||||
| chr21:41201003
|
C | T | 2 | a0001c0001t0002g0149a0001c0001t0011g0063 | 2 | HG02886.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.313-25263C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201003 | ||||||
| chr21:41201388
|
A | G | 2 | a0001c0001t0019g0211a0001c0001t0030g0208 | 2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.313-24878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201388 | ||||||
| chr21:41201435
|
G | A | 2 | a0001c0001t0003g0099a0001c0002t0001g0115 | 2 | NA19009.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.313-24831G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201435 | ||||||
| chr21:41201654
|
C | T | 8 | a0001c0001t0002g0149a0001c0001t0005g0008a0001c0001t0011g0063others(5): Show | 8 | HG02809.hp1 HG02886.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-24612C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201654 | ||||||
| chr21:41201662
|
A | G | 100 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(97): Show | 100 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(97): Show |
intron_variant | MODIFIER | c.313-24604A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201662 | ||||||
| chr21:41201719
|
G | A | 16 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(13): Show | 16 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-24547G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201719 | ||||||
| chr21:41201962
|
G | T | 2 | a0001c0001t0006g0059a0001c0001t0036g0019 | 2 | HG01192.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.313-24304G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201962 | ||||||
| chr21:41202149
|
G | A | 15 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(12): Show | 15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-24117G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202149 | ||||||
| chr21:41202257
|
C | T | 99 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(96): Show | 99 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.313-24009C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202257 | ||||||
| chr21:41202315
|
C | T | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-23951C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202315 | ||||||
| chr21:41202323
|
G | T | 2 | a0001c0001t0018g0022a0001c0001t0018g0053 | 2 | HG02738.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.313-23943G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202323 | ||||||
| chr21:41202477
|
A | C | 1 | a0001c0001t0005g0243 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.313-23789A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202477 | ||||||
| chr21:41202479
|
T | C | 23 | a0001c0001t0001g0165a0001c0001t0003g0178a0001c0001t0004g0072others(20): Show | 23 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(20): Show |
intron_variant | MODIFIER | c.313-23787T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202479 | ||||||
| chr21:41202726
|
C | G | 9 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0019g0009others(6): Show | 9 | HG01106.hp2 HG01109.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-23540C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202726 | ||||||
| chr21:41202734
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-23532C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202734 | ||||||
| chr21:41202764
|
A | G | 47 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0148others(44): Show | 47 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.313-23502A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202764 | ||||||
| chr21:41202767
|
G | A | 1 | a0001c0002t0001g0046 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.313-23499G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202767 | ||||||
| chr21:41202769
|
T | G | 47 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0148others(44): Show | 47 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.313-23497T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202769 | ||||||
| chr21:41202828
|
C | T | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-23438C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202828 | ||||||
| chr21:41202890
|
A | C | 1 | a0001c0001t0005g0162 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.313-23376A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202890 | ||||||
| chr21:41203241
|
G | A | 16 | a0001c0001t0003g0015a0001c0001t0003g0178a0001c0001t0004g0072others(13): Show | 16 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-23025G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203241 | ||||||
| chr21:41203427
|
C | T | 15 | a0001c0001t0003g0178a0001c0001t0004g0072a0001c0001t0004g0202others(12): Show | 15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-22839C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203427 | ||||||
| chr21:41203453
|
G | A | 1 | a0001c0001t0009g0042 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.313-22813G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203453 | ||||||
| chr21:41203488
|
T | C | 102 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0234others(99): Show | 102 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(99): Show |
intron_variant | MODIFIER | c.313-22778T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203488 | ||||||
| chr21:41203527
|
G | A | 25 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0074others(22): Show | 25 | HG01069.hp2 HG01167.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.313-22739G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203527 | ||||||
| chr21:41204012
|
G | T | 1 | a0001c0001t0054g0170 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.313-22254G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204012 | ||||||
| chr21:41204074
|
T | C | 2 | a0001c0001t0003g0191a0001c0002t0001g0167 | 2 | NA18979.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.313-22192T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204074 | ||||||
| chr21:41204164
|
T | C | 270 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(267): Show | 271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.313-22102T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204164 | ||||||
| chr21:41204237
|
C | T | 6 | a0001c0001t0002g0148a0001c0001t0002g0156a0001c0001t0043g0227others(3): Show | 6 | HG00642.hp1 HG01981.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-22029C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204237 | ||||||
| chr21:41204348
|
G | A | 7 | a0001c0001t0003g0013a0001c0001t0004g0018a0001c0001t0004g0129others(4): Show | 7 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-21918G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204348 | ||||||
| chr21:41204373
|
A | G | 3 | a0001c0001t0001g0120a0001c0001t0018g0022a0001c0001t0018g0053 | 3 | HG00140.hp1 HG02738.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.313-21893A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204373 | ||||||
| chr21:41204386
|
T | C | 1 | a0001c0002t0001g0188 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.313-21880T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204386 | ||||||
| chr21:41204662
|
G | C | 7 | a0001c0001t0004g0200a0001c0002t0001g0036a0001c0002t0001g0111others(4): Show | 7 | HG00733.hp1 HG01099.hp1 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-21604G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204662 | ||||||
| chr21:41204728
|
A | G | 9 | a0001c0001t0002g0187a0001c0001t0004g0228a0001c0001t0008g0010others(6): Show | 9 | HG00408.hp2 HG02280.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-21538A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204728 | ||||||
| chr21:41204738
|
C | T | 19 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0141others(16): Show | 19 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.313-21528C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204738 | ||||||
| chr21:41205037
|
G | A | 35 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(32): Show | 35 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.313-21229G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205037 | ||||||
| chr21:41205077
|
G | C | 1 | a0001c0001t0003g0178 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.313-21189G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205077 | ||||||
| chr21:41205370
|
C | A | 49 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0074others(46): Show | 49 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
intron_variant | MODIFIER | c.313-20896C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205370 | ||||||
| chr21:41205477
|
G | T | 3 | a0001c0001t0004g0017a0001c0001t0004g0104a0001c0002t0001g0105 | 3 | NA18950.hp2 NA18987.hp1 NA18987.hp2 |
intron_variant | MODIFIER | c.313-20789G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205477 | ||||||
| chr21:41205599
|
C | T | 48 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0074others(45): Show | 48 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(45): Show |
intron_variant | MODIFIER | c.313-20667C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205599 | ||||||
| chr21:41205665
|
G | A | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-20601G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205665 | ||||||
| chr21:41205759
|
G | T | 1 | a0001c0001t0020g0266 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.313-20507G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205759 | ||||||
| chr21:41205784
|
GT | G | 3 | a0001c0002t0001g0043a0001c0002t0022g0183a0001c0002t0056g0192 | 3 | HG04184.hp2 NA18950.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.313-20480delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41205784 | |||||
| chr21:41205851
|
C | G | 12 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0187others(9): Show | 12 | HG00280.hp2 HG00408.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.313-20415C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205851 | ||||||
| chr21:41206034
|
T | G | 10 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0024others(7): Show | 10 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-20232T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206034 | ||||||
| chr21:41206471
|
G | A | 103 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(100): Show | 103 | HG00280.hp1 HG00642.hp1 HG00642.hp2 others(100): Show |
intron_variant | MODIFIER | c.313-19795G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206471 | ||||||
| chr21:41206626
|
G | A | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-19640G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206626 | ||||||
| chr21:41206662
|
C | T | 7 | a0001c0001t0002g0007a0001c0001t0002g0160a0001c0001t0002g0175others(4): Show | 7 | HG01243.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-19604C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206662 | ||||||
| chr21:41206743
|
G | A | 1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-19523G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206743 | ||||||
| chr21:41206856
|
C | A | 1 | a0001c0001t0001g0268 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.313-19410C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206856 | ||||||
| chr21:41206872
|
GTAACT | G | 7 | a0001c0001t0005g0246a0001c0001t0007g0002a0001c0001t0007g0201others(4): Show | 7 | HG00741.hp2 HG02109.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-19390_313-1938 others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41206872 | |||||
| chr21:41206877
|
TTAA | T | 37 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0072others(34): Show | 37 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-19388_313-1938 others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206877 | ||||||
| chr21:41207022
|
T | G | 1 | a0001c0001t0002g0149 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.313-19244T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207022 | ||||||
| chr21:41207038
|
G | T | 3 | a0001c0001t0005g0008a0001c0001t0005g0147a0001c0001t0014g0003 | 3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-19228G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207038 | ||||||
| chr21:41207073
|
A | G | 1 | a0001c0003t0005g0051 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.313-19193A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207073 | ||||||
| chr21:41207100
|
G | C | 4 | a0001c0001t0007g0002a0001c0001t0011g0264a0001c0001t0012g0137others(1): Show | 4 | HG00741.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-19166G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207100 | ||||||
| chr21:41207103
|
A | G | 3 | a0001c0001t0005g0008a0001c0001t0005g0147a0001c0001t0014g0003 | 3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-19163A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207103 | ||||||
| chr21:41207228
|
G | A | 1 | a0001c0002t0001g0055 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-19038G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207228 | ||||||
| chr21:41207426
|
C | T | 17 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(14): Show | 17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18840C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207426 | ||||||
| chr21:41207443
|
G | A | 2 | a0001c0001t0003g0064a0001c0001t0003g0186 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.313-18823G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207443 | ||||||
| chr21:41207594
|
T | C | 142 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0234others(139): Show | 142 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.313-18672T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207594 | ||||||
| chr21:41207622
|
C | T | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18644C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207622 | ||||||
| chr21:41207625
|
C | T | 17 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(14): Show | 17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18641C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207625 | ||||||
| chr21:41207650
|
C | T | 15 | a0001c0001t0002g0149a0001c0001t0003g0178a0001c0001t0006g0171others(12): Show | 15 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.313-18616C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207650 | ||||||
| chr21:41207652
|
G | GGCTGTCT others(3): Show |
18 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18613_313-1861 others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41207652 | |||||
| chr21:41207658
|
A | G | 18 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18608A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207658 | ||||||
| chr21:41207712
|
G | A | 1 | a0001c0001t0013g0114 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.313-18554G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207712 | ||||||
| chr21:41207731
|
C | T | 41 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0004g0072others(38): Show | 41 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.313-18535C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207731 | ||||||
| chr21:41207740
|
A | G | 18 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(15): Show | 18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18526A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207740 | ||||||
| chr21:41207753
|
G | A | 17 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(14): Show | 17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18513G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207753 | ||||||
| chr21:41207781
|
C | T | 17 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(14): Show | 17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18485C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207781 | ||||||
| chr21:41207791
|
C | T | 17 | a0001c0001t0001g0165a0001c0001t0004g0214a0001c0001t0005g0008others(14): Show | 17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18475C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207791 | ||||||
| chr21:41207802
|
A | G | 3 | a0001c0001t0005g0005a0001c0001t0005g0162a0001c0001t0005g0240 | 3 | HG02258.hp1 HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.313-18464A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207802 | ||||||
| chr21:41207873
|
G | A | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18393G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207873 | ||||||
| chr21:41207963
|
T | C | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-18303T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207963 | ||||||
| chr21:41208126
|
G | A | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18140G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208126 | ||||||
| chr21:41208191
|
C | G | 6 | a0001c0001t0004g0214a0001c0001t0007g0075a0001c0001t0009g0229others(3): Show | 6 | HG02257.hp1 HG02615.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-18075C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208191 | ||||||
| chr21:41208222
|
T | C | 140 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(137): Show | 140 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.313-18044T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208222 | ||||||
| chr21:41208295
|
G | A | 1 | a0001c0002t0001g0045 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.313-17971G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208295 | ||||||
| chr21:41208319
|
A | G | 7 | a0001c0001t0007g0002a0001c0001t0007g0201a0001c0001t0011g0264others(4): Show | 7 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-17947A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208319 | ||||||
| chr21:41208338
|
G | A | 69 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(66): Show | 69 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.313-17928G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208338 | ||||||
| chr21:41208413
|
C | T | 3 | a0001c0001t0003g0178a0001c0001t0021g0027a0001c0001t0021g0085 | 3 | HG02109.hp2 HG02258.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.313-17853C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208413 | ||||||
| chr21:41208436
|
C | T | 63 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(60): Show | 63 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.313-17830C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208436 | ||||||
| chr21:41208687
|
C | T | 1 | a0001c0001t0020g0150 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.313-17579C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208687 | ||||||
| chr21:41208924
|
T | C | 80 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(77): Show | 80 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.313-17342T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208924 | ||||||
| chr21:41208999
|
C | G | 6 | a0001c0001t0004g0214a0001c0001t0007g0075a0001c0001t0009g0229others(3): Show | 6 | HG02257.hp1 HG02615.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-17267C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208999 | ||||||
| chr21:41209056
|
C | T | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-17210C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209056 | ||||||
| chr21:41209061
|
G | A | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-17205G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209061 | ||||||
| chr21:41209152
|
G | A | 2 | a0001c0001t0001g0234a0001c0001t0001g0268 | 2 | HG00280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.313-17114G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209152 | ||||||
| chr21:41209284
|
T | C | 135 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(132): Show | 135 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.313-16982T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209284 | ||||||
| chr21:41209294
|
C | T | 3 | a0001c0001t0005g0140a0001c0001t0008g0255a0001c0002t0059g0265 | 3 | HG02615.hp2 HG02622.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.313-16972C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209294 | ||||||
| chr21:41209368
|
G | A | 23 | a0001c0001t0002g0149a0001c0001t0004g0072a0001c0001t0004g0074others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.313-16898G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209368 | ||||||
| chr21:41209439
|
C | T | 3 | a0001c0001t0005g0008a0001c0001t0005g0147a0001c0001t0014g0003 | 3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-16827C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209439 | ||||||
| chr21:41209474
|
G | A | 1 | a0001c0002t0001g0056 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.313-16792G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209474 | ||||||
| chr21:41209498
|
C | T | 73 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(70): Show | 73 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.313-16768C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209498 | ||||||
| chr21:41209521
|
G | A | 96 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(93): Show | 96 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-16745G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209521 | ||||||
| chr21:41209555
|
C | T | 1 | a0001c0001t0006g0107 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.313-16711C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209555 | ||||||
| chr21:41209602
|
A | C | 116 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(113): Show | 116 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(113): Show |
intron_variant | MODIFIER | c.313-16664A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209602 | ||||||
| chr21:41209648
|
A | G | 87 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-16618A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209648 | ||||||
| chr21:41209667
|
G | A | 101 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(98): Show | 101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16599G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209667 | ||||||
| chr21:41209710
|
G | T | 101 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(98): Show | 101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16556G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209710 | ||||||
| chr21:41209718
|
G | A | 1 | a0001c0001t0012g0137 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.313-16548G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209718 | ||||||
| chr21:41209740
|
C | T | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.313-16526C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209740 | ||||||
| chr21:41209776
|
C | T | 101 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(98): Show | 101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16490C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209776 | ||||||
| chr21:41209787
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.313-16479C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209787 | ||||||
| chr21:41210000
|
T | C | 242 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(239): Show | 242 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.313-16266T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210000 | ||||||
| chr21:41210231
|
AC | A | 96 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(93): Show | 96 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-16032delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41210231 | |||||
| chr21:41210260
|
A | G | 174 | a0001c0001t0001g0120a0001c0001t0001g0173a0001c0001t0001g0226others(171): Show | 175 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.313-16006A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210260 | ||||||
| chr21:41210353
|
G | A | 9 | a0001c0001t0001g0165a0001c0001t0007g0002a0001c0001t0007g0201others(6): Show | 9 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-15913G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210353 | ||||||
| chr21:41210455
|
T | C | 174 | a0001c0001t0001g0120a0001c0001t0001g0173a0001c0001t0001g0226others(171): Show | 175 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.313-15811T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210455 | ||||||
| chr21:41210497
|
T | C | 176 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(173): Show | 177 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.313-15769T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210497 | ||||||
| chr21:41210593
|
A | G | 96 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(93): Show | 96 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-15673A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210593 | ||||||
| chr21:41210709
|
A | G | 13 | a0001c0001t0003g0178a0001c0001t0006g0171a0001c0001t0008g0006others(10): Show | 13 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-15557A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210709 | ||||||
| chr21:41210730
|
T | G | 3 | a0001c0001t0009g0047a0001c0001t0046g0269a0001c0002t0001g0102 | 3 | HG00642.hp2 NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.313-15536T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210730 | ||||||
| chr21:41210769
|
C | T | 4 | a0001c0001t0005g0008a0001c0001t0005g0147a0001c0001t0008g0267others(1): Show | 4 | HG02818.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-15497C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210769 | ||||||
| chr21:41210825
|
A | G | 87 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-15441A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210825 | ||||||
| chr21:41211021
|
C | T | 1 | a0001c0001t0003g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-15245C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211021 | ||||||
| chr21:41211054
|
A | G | 87 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-15212A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211054 | ||||||
| chr21:41211163
|
C | A | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-15103C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211163 | ||||||
| chr21:41211185
|
C | G | 3 | a0001c0001t0003g0127a0001c0002t0001g0091a0001c0002t0001g0164 | 3 | HG02004.hp2 NA18612.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.313-15081C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211185 | ||||||
| chr21:41211209
|
G | A | 22 | a0001c0001t0002g0149a0001c0001t0004g0072a0001c0001t0004g0074others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-15057G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211209 | ||||||
| chr21:41211227
|
A | T | 44 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(41): Show | 44 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.313-15039A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211227 | ||||||
| chr21:41211300
|
G | A | 5 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0016g0039others(2): Show | 5 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-14966G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211300 | ||||||
| chr21:41211498
|
G | A | 1 | a0001c0002t0001g0166 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.313-14768G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211498 | ||||||
| chr21:41211696
|
T | C | 18 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0005others(15): Show | 18 | HG01069.hp2 HG02055.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-14570T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211696 | ||||||
| chr21:41211811
|
G | A | 117 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(114): Show | 117 | HG00280.hp2 HG00733.hp1 HG00741.hp2 others(114): Show |
intron_variant | MODIFIER | c.313-14455G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211811 | ||||||
| chr21:41211877
|
G | C | 73 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(70): Show | 73 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(70): Show |
intron_variant | MODIFIER | c.313-14389G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211877 | ||||||
| chr21:41212214
|
T | C | 226 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(223): Show | 227 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.313-14052T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212214 | ||||||
| chr21:41212325
|
C | G | 13 | a0001c0001t0003g0178a0001c0001t0006g0171a0001c0001t0008g0006others(10): Show | 13 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-13941C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212325 | ||||||
| chr21:41212337
|
A | G | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-13929A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212337 | ||||||
| chr21:41212343
|
C | T | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-13923C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212343 | ||||||
| chr21:41212346
|
C | T | 1 | a0001c0001t0011g0063 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.313-13920C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212346 | ||||||
| chr21:41212370
|
A | T | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-13896A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212370 | ||||||
| chr21:41212645
|
G | A | 1 | a0001c0001t0004g0172 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.313-13621G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212645 | ||||||
| chr21:41212667
|
G | A | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.313-13599G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212667 | ||||||
| chr21:41212694
|
A | G | 101 | a0001c0001t0001g0165a0001c0001t0001g0234a0001c0001t0001g0268others(98): Show | 101 | HG00280.hp2 HG00733.hp1 HG00741.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-13572A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212694 | ||||||
| chr21:41212915
|
T | C | 2 | a0001c0001t0003g0153a0001c0001t0003g0224 | 2 | HG01261.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.313-13351T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212915 | ||||||
| chr21:41213158
|
A | T | 1 | a0001c0002t0055g0168 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.313-13108A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213158 | ||||||
| chr21:41213161
|
A | G | 49 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0002g0007others(46): Show | 49 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(46): Show |
intron_variant | MODIFIER | c.313-13105A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213161 | ||||||
| chr21:41213403
|
A | C | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-12863A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213403 | ||||||
| chr21:41213408
|
G | GTGAGAGG others(5): Show |
9 | a0001c0001t0003g0099a0001c0001t0045g0212a0001c0002t0001g0096others(6): Show | 9 | HG02056.hp1 HG02056.hp2 HG02132.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-12856_313-1284 others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41213408 | |||||
| chr21:41213578
|
G | T | 1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-12688G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213578 | ||||||
| chr21:41213678
|
G | A | 3 | a0001c0001t0011g0092a0001c0001t0028g0079a0001c0003t0012g0207 | 3 | HG02965.hp1 HG03540.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.313-12588G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213678 | ||||||
| chr21:41213730
|
C | T | 2 | a0001c0001t0001g0251a0001c0001t0003g0041 | 2 | HG02129.hp1 HG02129.hp2 |
intron_variant | MODIFIER | c.313-12536C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213730 | ||||||
| chr21:41213811
|
G | A | 1 | a0001c0001t0004g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.313-12455G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213811 | ||||||
| chr21:41213910
|
CT | C | 4 | a0001c0001t0003g0013a0001c0001t0048g0130a0001c0002t0001g0033others(1): Show | 4 | HG02132.hp2 HG02602.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-12354delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41213910 | |||||
| chr21:41214027
|
G | A | 3 | a0001c0001t0007g0002a0001c0001t0011g0264a0001c0001t0037g0163 | 3 | HG02109.hp1 HG02559.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.313-12239G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214027 | ||||||
| chr21:41214144
|
G | A | 5 | a0001c0001t0008g0080a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-12122G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214144 | ||||||
| chr21:41214203
|
T | C | 146 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(143): Show | 146 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.313-12063T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214203 | ||||||
| chr21:41214316
|
G | T | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-11950G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214316 | ||||||
| chr21:41214337
|
C | T | 3 | a0001c0001t0008g0010a0001c0001t0011g0011a0001c0001t0031g0239 | 3 | HG02559.hp2 HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.313-11929C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214337 | ||||||
| chr21:41214421
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-11845A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214421 | ||||||
| chr21:41214530
|
T | A | 3 | a0001c0001t0002g0187a0001c0002t0001g0081a0001c0002t0001g0131 | 3 | HG00408.hp2 HG02083.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.313-11736T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214530 | ||||||
| chr21:41214568
|
A | G | 7 | a0001c0001t0003g0013a0001c0001t0004g0018a0001c0001t0004g0129others(4): Show | 7 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-11698A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214568 | ||||||
| chr21:41214677
|
C | T | 68 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0002g0026others(65): Show | 68 | HG00733.hp1 HG00741.hp2 HG01069.hp1 others(65): Show |
intron_variant | MODIFIER | c.313-11589C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214677 | ||||||
| chr21:41214889
|
GAA | G | 4 | a0001c0002t0001g0121a0001c0002t0001g0159a0001c0002t0024g0021others(1): Show | 4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11376_313-1137 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214889 | ||||||
| chr21:41214893
|
C | A | 4 | a0001c0002t0001g0121a0001c0002t0001g0159a0001c0002t0024g0021others(1): Show | 4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11373C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214893 | ||||||
| chr21:41214895
|
T | A | 4 | a0001c0002t0001g0121a0001c0002t0001g0159a0001c0002t0024g0021others(1): Show | 4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11371T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214895 | ||||||
| chr21:41215109
|
C | T | 22 | a0001c0001t0002g0149a0001c0001t0004g0072a0001c0001t0004g0074others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-11157C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215109 | ||||||
| chr21:41215180
|
C | T | 2 | a0001c0001t0017g0146a0001c0002t0058g0134 | 2 | HG01978.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.313-11086C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215180 | ||||||
| chr21:41215196
|
G | C | 22 | a0001c0001t0002g0149a0001c0001t0004g0072a0001c0001t0004g0074others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-11070G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215196 | ||||||
| chr21:41215211
|
G | A | 37 | a0001c0001t0002g0149a0001c0001t0003g0178a0001c0001t0004g0072others(34): Show | 37 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-11055G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215211 | ||||||
| chr21:41215284
|
T | G | 19 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0008others(16): Show | 19 | HG01069.hp2 HG02055.hp2 HG02572.hp1 others(16): Show |
intron_variant | MODIFIER | c.313-10982T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215284 | ||||||
| chr21:41215345
|
G | A | 10 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0024others(7): Show | 10 | HG01069.hp2 HG02055.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.313-10921G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215345 | ||||||
| chr21:41215383
|
C | G | 3 | a0001c0002t0001g0209a0001c0002t0001g0252a0001c0002t0001g0262 | 3 | HG01070.hp1 HG01168.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.313-10883C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215383 | ||||||
| chr21:41215505
|
C | T | 3 | a0001c0001t0004g0218a0001c0001t0009g0108a0001c0001t0009g0184 | 3 | HG01934.hp2 HG02683.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-10761C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215505 | ||||||
| chr21:41215517
|
C | T | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-10749C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215517 | ||||||
| chr21:41215580
|
C | T | 6 | a0001c0001t0007g0002a0001c0001t0011g0264a0001c0001t0012g0137others(3): Show | 6 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-10686C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215580 | ||||||
| chr21:41215589
|
C | T | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-10677C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215589 | ||||||
| chr21:41215682
|
C | T | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-10584C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215682 | ||||||
| chr21:41215689
|
G | A | 1 | a0001c0002t0001g0091 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.313-10577G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215689 | ||||||
| chr21:41215726
|
G | A | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-10540G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215726 | ||||||
| chr21:41215737
|
C | T | 4 | a0001c0001t0005g0008a0001c0001t0005g0147a0001c0001t0008g0267others(1): Show | 4 | HG02818.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-10529C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215737 | ||||||
| chr21:41215821
|
C | T | 1 | a0001c0001t0005g0243 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.313-10445C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215821 | ||||||
| chr21:41215892
|
G | GGT | 60 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(57): Show | 60 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(57): Show |
intron_variant | MODIFIER | c.313-10360_313-1035 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41215892 | |||||
| chr21:41215909
|
A | C | 17 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0008others(14): Show | 17 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(14): Show |
intron_variant | MODIFIER | c.313-10357A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215909 | ||||||
| chr21:41215927
|
G | A | 1 | a0001c0002t0001g0204 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.313-10339G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215927 | ||||||
| chr21:41216012
|
A | G | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-10254A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216012 | ||||||
| chr21:41216063
|
G | A | 2 | a0001c0001t0005g0005a0001c0001t0029g0145 | 2 | HG01106.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.313-10203G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216063 | ||||||
| chr21:41216129
|
T | C | 5 | a0001c0001t0013g0114a0001c0002t0001g0209a0001c0002t0001g0233others(2): Show | 5 | HG01070.hp1 HG01081.hp2 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-10137T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216129 | ||||||
| chr21:41216175
|
A | G | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-10091A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216175 | ||||||
| chr21:41216303
|
C | T | 6 | a0001c0001t0007g0002a0001c0001t0011g0264a0001c0001t0012g0137others(3): Show | 6 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-9963C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216303 | ||||||
| chr21:41216399
|
G | C | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-9867G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216399 | ||||||
| chr21:41216450
|
A | T | 109 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0002g0026others(106): Show | 109 | HG00733.hp1 HG00741.hp2 HG01069.hp1 others(106): Show |
intron_variant | MODIFIER | c.313-9816A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216450 | ||||||
| chr21:41216555
|
G | A | 19 | a0001c0001t0002g0087a0001c0001t0004g0023a0001c0001t0005g0008others(16): Show | 19 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.313-9711G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216555 | ||||||
| chr21:41216804
|
G | C | 67 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0002g0026others(64): Show | 67 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(64): Show |
intron_variant | MODIFIER | c.313-9462G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216804 | ||||||
| chr21:41216805
|
G | A | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-9461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216805 | ||||||
| chr21:41216962
|
C | T | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-9304C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216962 | ||||||
| chr21:41217005
|
T | C | 1 | a0001c0002t0001g0096 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.313-9261T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217005 | ||||||
| chr21:41217089
|
G | A | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-9177G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217089 | ||||||
| chr21:41217175
|
C | T | 1 | a0001c0003t0012g0207 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.313-9091C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217175 | ||||||
| chr21:41217275
|
G | A | 1 | a0001c0001t0007g0271 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.313-8991G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217275 | ||||||
| chr21:41217457
|
G | A | 42 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(39): Show | 42 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(39): Show |
intron_variant | MODIFIER | c.313-8809G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217457 | ||||||
| chr21:41217597
|
G | T | 9 | a0001c0001t0004g0023a0001c0001t0005g0024a0001c0001t0005g0030others(6): Show | 9 | HG02055.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-8669G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217597 | ||||||
| chr21:41217601
|
C | T | 2 | a0001c0001t0004g0218a0001c0001t0009g0108 | 2 | HG01934.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-8665C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217601 | ||||||
| chr21:41217631
|
CGTT | C | 10 | a0001c0001t0001g0165a0001c0001t0007g0002a0001c0001t0007g0201others(7): Show | 10 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.313-8632_313-8630d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41217631 | |||||
| chr21:41217648
|
C | T | 1 | a0001c0001t0006g0171 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-8618C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217648 | ||||||
| chr21:41217660
|
T | C | 1 | a0001c0001t0009g0108 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.313-8606T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217660 | ||||||
| chr21:41217766
|
G | T | 126 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(123): Show | 126 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.313-8500G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217766 | ||||||
| chr21:41217830
|
C | T | 1 | a0001c0001t0004g0038 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.313-8436C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217830 | ||||||
| chr21:41217866
|
G | A | 21 | a0001c0001t0004g0072a0001c0001t0004g0074a0001c0001t0004g0202others(18): Show | 21 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(18): Show |
intron_variant | MODIFIER | c.313-8400G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217866 | ||||||
| chr21:41218014
|
T | A | 1 | a0001c0001t0003g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-8252T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218014 | ||||||
| chr21:41218035
|
C | G | 1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-8231C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218035 | ||||||
| chr21:41218092
|
G | A | 2 | a0001c0001t0004g0200a0001c0001t0014g0003 | 2 | NA19063.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-8174G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218092 | ||||||
| chr21:41218318
|
A | T | 1 | a0001c0001t0007g0113 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.313-7948A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218318 | ||||||
| chr21:41218333
|
A | T | 1 | a0001c0002t0026g0052 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.313-7933A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218333 | ||||||
| chr21:41218388
|
A | G | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-7878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218388 | ||||||
| chr21:41218414
|
G | A | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7852G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218414 | ||||||
| chr21:41218415
|
C | A | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7851C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218415 | ||||||
| chr21:41218556
|
A | G | 1 | a0001c0002t0058g0134 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.313-7710A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218556 | ||||||
| chr21:41218636
|
C | T | 2 | a0001c0002t0001g0106a0001c0002t0003g0181 | 2 | NA18939.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.313-7630C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218636 | ||||||
| chr21:41218869
|
C | CTT | 64 | a0001c0001t0001g0165a0001c0001t0002g0007a0001c0001t0002g0026others(61): Show | 64 | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(61): Show |
intron_variant | MODIFIER | c.313-7386_313-7385d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41218869 | |||||
| chr21:41218869
|
C | CTTT | 59 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(56): Show | 59 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.313-7387_313-7385d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41218869 | |||||
| chr21:41218894
|
C | T | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7372C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218894 | ||||||
| chr21:41218895
|
G | A | 43 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(40): Show | 43 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
intron_variant | MODIFIER | c.313-7371G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218895 | ||||||
| chr21:41219138
|
G | A | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-7128G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219138 | ||||||
| chr21:41219151
|
G | A | 54 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(51): Show | 54 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(51): Show |
intron_variant | MODIFIER | c.313-7115G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219151 | ||||||
| chr21:41219153
|
G | A | 1 | a0001c0001t0003g0224 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.313-7113G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219153 | ||||||
| chr21:41219684
|
G | A | 130 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(127): Show | 130 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.313-6582G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219684 | ||||||
| chr21:41219721
|
G | T | 1 | a0001c0002t0001g0209 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.313-6545G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219721 | ||||||
| chr21:41219722
|
A | T | 1 | a0001c0002t0001g0209 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.313-6544A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219722 | ||||||
| chr21:41219726
|
C | T | 1 | a0001c0002t0001g0055 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-6540C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219726 | ||||||
| chr21:41219834
|
T | C | 1 | a0001c0002t0001g0197 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.313-6432T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219834 | ||||||
| chr21:41219940
|
G | T | 2 | a0001c0001t0004g0218a0001c0001t0009g0108 | 2 | HG01934.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-6326G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219940 | ||||||
| chr21:41219952
|
C | T | 1 | a0001c0001t0005g0008 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.313-6314C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219952 | ||||||
| chr21:41220064
|
T | C | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-6202T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220064 | ||||||
| chr21:41220143
|
C | T | 14 | a0001c0001t0003g0178a0001c0001t0006g0171a0001c0001t0007g0075others(11): Show | 14 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-6123C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220143 | ||||||
| chr21:41220167
|
GAT | G | 61 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(58): Show | 61 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(58): Show |
intron_variant | MODIFIER | c.313-6098_313-6097d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220167 | ||||||
| chr21:41220215
|
C | A | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-6051C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220215 | ||||||
| chr21:41220435
|
C | A | 1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-5831C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220435 | ||||||
| chr21:41220504
|
T | G | 3 | a0001c0001t0004g0023a0001c0001t0005g0030a0001c0001t0005g0058 | 3 | HG02630.hp2 HG02723.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.313-5762T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220504 | ||||||
| chr21:41220668
|
T | C | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-5598T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220668 | ||||||
| chr21:41220708
|
T | TTA | 2 | a0001c0001t0012g0142a0001c0001t0017g0146 | 2 | HG02572.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.313-5550_313-5549d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41220708 | |||||
| chr21:41220773
|
C | T | 9 | a0001c0001t0004g0072a0001c0001t0004g0074a0001c0001t0004g0202others(6): Show | 9 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-5493C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220773 | ||||||
| chr21:41220948
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-5318A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220948 | ||||||
| chr21:41221044
|
T | TA | 47 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0026others(44): Show | 48 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.313-5204dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221044 | |||||
| chr21:41221044
|
TA | T | 60 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(57): Show | 60 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.313-5204delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221044 | |||||
| chr21:41221197
|
G | A | 6 | a0001c0001t0005g0147a0001c0001t0007g0201a0001c0001t0007g0244others(3): Show | 6 | HG02572.hp1 HG02886.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-5069G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221197 | ||||||
| chr21:41221206
|
C | T | 2 | a0001c0001t0001g0165a0001c0002t0001g0249 | 2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-5060C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221206 | ||||||
| chr21:41221347
|
A | C | 1 | a0001c0002t0022g0194 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.313-4919A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221347 | ||||||
| chr21:41221488
|
T | C | 2 | a0001c0001t0004g0172a0001c0001t0009g0042 | 2 | HG01952.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.313-4778T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221488 | ||||||
| chr21:41221563
|
C | T | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-4703C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221563 | ||||||
| chr21:41221593
|
C | A | 13 | a0001c0001t0004g0214a0001c0001t0006g0254a0001c0001t0007g0201others(10): Show | 13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4673C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221593 | ||||||
| chr21:41221594
|
A | G | 13 | a0001c0001t0004g0214a0001c0001t0006g0254a0001c0001t0007g0201others(10): Show | 13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4672A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221594 | ||||||
| chr21:41221596
|
A | C | 13 | a0001c0001t0004g0214a0001c0001t0006g0254a0001c0001t0007g0201others(10): Show | 13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4670A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221596 | ||||||
| chr21:41221600
|
T | C | 44 | a0001c0001t0003g0013a0001c0001t0003g0178a0001c0001t0004g0200others(41): Show | 44 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.313-4666T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221600 | ||||||
| chr21:41221608
|
G | A | 38 | a0001c0001t0003g0178a0001c0001t0004g0200a0001c0001t0004g0214others(35): Show | 38 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(35): Show |
intron_variant | MODIFIER | c.313-4658G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221608 | ||||||
| chr21:41221621
|
C | G | 4 | a0001c0001t0008g0086a0001c0001t0011g0071a0001c0001t0012g0152others(1): Show | 4 | HG02451.hp1 HG02970.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-4645C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221621 | ||||||
| chr21:41221621
|
C | T | 12 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(9): Show | 12 | HG01243.hp2 HG01361.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.313-4645C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221621 | ||||||
| chr21:41221653
|
G | A | 3 | a0001c0001t0003g0178a0001c0001t0027g0182a0001c0002t0001g0205 | 3 | HG02258.hp2 HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4613G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221653 | ||||||
| chr21:41221661
|
TAA | T | 3 | a0001c0001t0003g0178a0001c0001t0027g0182a0001c0002t0001g0205 | 3 | HG02258.hp2 HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4599_313-4598d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221661 | |||||
| chr21:41221684
|
T | C | 1 | a0001c0003t0012g0207 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.313-4582T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221684 | ||||||
| chr21:41221697
|
G | A | 1 | a0001c0001t0001g0260 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.313-4569G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221697 | ||||||
| chr21:41221721
|
G | A | 1 | a0001c0002t0060g0143 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.313-4545G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221721 | ||||||
| chr21:41221776
|
T | C | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4490T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221776 | ||||||
| chr21:41221782
|
A | C | 2 | a0001c0001t0003g0013a0001c0001t0012g0142 | 2 | HG02572.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.313-4484A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221782 | ||||||
| chr21:41221783
|
G | C | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4483G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221783 | ||||||
| chr21:41221784
|
A | C | 1 | a0001c0001t0012g0142 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4482A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221784 | ||||||
| chr21:41221784
|
A | T | 1 | a0001c0001t0003g0013 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.313-4482A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221784 | ||||||
| chr21:41221827
|
C | CA | 17 | a0001c0001t0003g0062a0001c0001t0004g0218a0001c0001t0009g0042others(14): Show | 17 | HG00140.hp2 HG01261.hp2 HG01934.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-4415dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | |||||
| chr21:41221827
|
C | CAAAA | 8 | a0001c0001t0007g0002a0001c0001t0011g0264a0001c0001t0012g0137others(5): Show | 8 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-4418_313-4415d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | |||||
| chr21:41221827
|
CAAAAAA | C | 53 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(50): Show | 53 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(50): Show |
intron_variant | MODIFIER | c.313-4420_313-4415d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | |||||
| chr21:41221827
|
CAAAAAAA | C | 43 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0049others(40): Show | 43 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.313-4421_313-4415d others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | |||||
| chr21:41221827
|
CAAAAAAA others(6): Show |
C | 11 | a0001c0001t0006g0171a0001c0001t0007g0075a0001c0001t0007g0244others(8): Show | 11 | HG01256.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.313-4427_313-4415d others(15): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | |||||
| chr21:41221936
|
G | A | 2 | a0001c0001t0003g0013a0001c0002t0001g0231 | 2 | HG03831.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.313-4330G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221936 | ||||||
| chr21:41221983
|
C | T | 2 | a0001c0001t0014g0003a0001c0001t0017g0146 | 2 | HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-4283C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221983 | ||||||
| chr21:41222046
|
G | A | 2 | a0001c0001t0003g0178a0001c0001t0027g0182 | 2 | HG02258.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4220G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222046 | ||||||
| chr21:41222131
|
G | C | 143 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(140): Show | 144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.313-4135G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222131 | ||||||
| chr21:41222142
|
G | A | 6 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0011g0092others(3): Show | 6 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-4124G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222142 | ||||||
| chr21:41222365
|
C | T | 1 | a0001c0001t0020g0150 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.313-3901C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222365 | ||||||
| chr21:41222366
|
G | A | 3 | a0001c0001t0003g0064a0001c0001t0003g0186a0001c0001t0048g0130 | 3 | HG01256.hp1 HG01258.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.313-3900G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222366 | ||||||
| chr21:41222434
|
G | T | 1 | a0001c0001t0006g0254 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-3832G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222434 | ||||||
| chr21:41222490
|
C | A | 270 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(267): Show | 271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.313-3776C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222490 | ||||||
| chr21:41222499
|
T | A | 8 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0006g0171others(5): Show | 8 | HG01256.hp2 HG02258.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-3767T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222499 | ||||||
| chr21:41222561
|
A | G | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-3705A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222561 | ||||||
| chr21:41222599
|
A | G | 1 | a0001c0002t0001g0256 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.313-3667A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222599 | ||||||
| chr21:41222649
|
C | G | 2 | a0001c0001t0002g0236a0001c0002t0001g0055 | 2 | NA18959.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.313-3617C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222649 | ||||||
| chr21:41222728
|
G | A | 5 | a0001c0001t0003g0013a0001c0001t0016g0039a0001c0001t0016g0117others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-3538G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222728 | ||||||
| chr21:41222751
|
G | A | 3 | a0001c0001t0004g0018a0001c0001t0004g0129a0001c0002t0001g0155 | 3 | HG01074.hp2 HG01106.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.313-3515G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222751 | ||||||
| chr21:41222917
|
G | A | 1 | a0001c0001t0011g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-3349G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222917 | ||||||
| chr21:41222972
|
T | C | 4 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0019g0009others(1): Show | 4 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-3294T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222972 | ||||||
| chr21:41223103
|
C | T | 4 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0019g0009others(1): Show | 4 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-3163C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223103 | ||||||
| chr21:41223242
|
G | A | 1 | a0001c0001t0006g0171 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-3024G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223242 | ||||||
| chr21:41223249
|
T | C | 129 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0002g0001others(126): Show | 130 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(127): Show |
intron_variant | MODIFIER | c.313-3017T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223249 | ||||||
| chr21:41223353
|
C | CA | 8 | a0001c0001t0003g0178a0001c0001t0004g0095a0001c0001t0004g0200others(5): Show | 8 | HG00408.hp1 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-2899dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41223353 | |||||
| chr21:41223353
|
CA | C | 65 | a0001c0001t0001g0173a0001c0001t0002g0001a0001c0001t0003g0125others(62): Show | 66 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(63): Show |
intron_variant | MODIFIER | c.313-2899delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41223353 | |||||
| chr21:41223380
|
A | G | 1 | a0001c0002t0001g0040 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.313-2886A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223380 | ||||||
| chr21:41223579
|
G | A | 2 | a0001c0001t0007g0075a0001c0001t0033g0037 | 2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.313-2687G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223579 | ||||||
| chr21:41223604
|
C | T | 3 | a0001c0002t0023g0094a0001c0002t0023g0176a0001c0002t0026g0052 | 3 | HG02683.hp1 HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.313-2662C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223604 | ||||||
| chr21:41223693
|
A | G | 1 | a0001c0001t0007g0113 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.313-2573A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223693 | ||||||
| chr21:41223765
|
T | A | 16 | a0001c0001t0005g0008a0001c0001t0006g0171a0001c0001t0007g0050others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-2501T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223765 | ||||||
| chr21:41223823
|
G | A | 3 | a0001c0001t0001g0226a0001c0001t0003g0153a0001c0001t0003g0224 | 3 | HG01175.hp2 HG01261.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.313-2443G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223823 | ||||||
| chr21:41223963
|
G | A | 46 | a0001c0001t0001g0173a0001c0001t0002g0001a0001c0001t0003g0125others(43): Show | 47 | HG00738.hp2 HG01081.hp2 HG01106.hp2 others(44): Show |
intron_variant | MODIFIER | c.313-2303G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223963 | ||||||
| chr21:41224041
|
G | A | 2 | a0001c0001t0007g0075a0001c0001t0033g0037 | 2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.313-2225G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224041 | ||||||
| chr21:41224159
|
A | G | 7 | a0001c0001t0005g0140a0001c0001t0005g0246a0001c0001t0008g0080others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-2107A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224159 | ||||||
| chr21:41224209
|
A | AT | 20 | a0001c0001t0001g0251a0001c0001t0002g0007a0001c0001t0002g0175others(17): Show | 20 | HG00741.hp1 HG01099.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.313-2034dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224209
|
A | ATTT | 17 | a0001c0001t0005g0008a0001c0001t0007g0050a0001c0001t0007g0078others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.313-2036_313-2034d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224209
|
A | ATTTTT | 26 | a0001c0001t0002g0066a0001c0001t0002g0073a0001c0001t0002g0087others(23): Show | 26 | HG00280.hp1 HG00408.hp2 HG01069.hp2 others(23): Show |
intron_variant | MODIFIER | c.313-2038_313-2034d others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224209
|
A | ATTTTTT | 32 | a0001c0001t0002g0001a0001c0001t0003g0230a0001c0001t0004g0074others(29): Show | 33 | HG00738.hp2 HG00741.hp2 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.313-2039_313-2034d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224209
|
A | ATTTTTTT | 10 | a0001c0001t0001g0173a0001c0001t0003g0125a0001c0001t0004g0214others(7): Show | 10 | HG01109.hp2 HG02074.hp1 HG02074.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-2040_313-2034d others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224209
|
AT | A | 25 | a0001c0001t0003g0178a0001c0001t0005g0140a0001c0001t0005g0147others(22): Show | 25 | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(22): Show |
intron_variant | MODIFIER | c.313-2034delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | |||||
| chr21:41224221
|
TTTTTTTT others(5): Show |
T | 1 | a0001c0002t0001g0237 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.313-2044_313-2033d others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224221 | ||||||
| chr21:41224549
|
C | G | 1 | a0001c0002t0001g0164 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.313-1717C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224549 | ||||||
| chr21:41224553
|
G | A | 4 | a0001c0001t0014g0003a0001c0001t0017g0146a0001c0001t0017g0270others(1): Show | 4 | HG02723.hp1 HG03098.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-1713G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224553 | ||||||
| chr21:41224592
|
A | G | 1 | a0001c0002t0001g0164 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.313-1674A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224592 | ||||||
| chr21:41224674
|
G | A | 7 | a0001c0001t0005g0140a0001c0001t0005g0246a0001c0001t0008g0080others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-1592G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224674 | ||||||
| chr21:41224910
|
G | C | 146 | a0001c0001t0001g0120a0001c0001t0001g0173a0001c0001t0001g0234others(143): Show | 147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.313-1356G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224910 | ||||||
| chr21:41225058
|
C | A | 1 | a0001c0002t0001g0055 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-1208C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225058 | ||||||
| chr21:41225090
|
C | T | 5 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0019g0009others(2): Show | 5 | HG01106.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-1176C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225090 | ||||||
| chr21:41225129
|
G | A | 1 | a0001c0001t0004g0074 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.313-1137G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225129 | ||||||
| chr21:41225233
|
CA | C | 42 | a0001c0001t0001g0173a0001c0001t0002g0001a0001c0001t0003g0125others(39): Show | 43 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.313-1017delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41225233 | |||||
| chr21:41225248
|
A | T | 2 | a0001c0001t0003g0013a0001c0002t0001g0056 | 2 | HG01934.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.313-1018A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225248 | ||||||
| chr21:41225249
|
AT | A | 7 | a0001c0001t0005g0140a0001c0001t0005g0246a0001c0001t0008g0080others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-1016delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225249 | ||||||
| chr21:41225320
|
A | G | 1 | a0001c0001t0006g0171 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-946A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225320 | ||||||
| chr21:41225349
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.313-917G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225349 | ||||||
| chr21:41225355
|
T | C | 5 | a0001c0001t0004g0214a0001c0001t0009g0229a0001c0001t0019g0009others(2): Show | 5 | HG01106.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-911T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225355 | ||||||
| chr21:41225441
|
A | G | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-825A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225441 | ||||||
| chr21:41225460
|
T | C | 35 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(32): Show | 35 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.313-806T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225460 | ||||||
| chr21:41225588
|
G | C | 1 | a0001c0001t0006g0171 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-678G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225588 | ||||||
| chr21:41225588
|
G | T | 1 | a0001c0001t0005g0161 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.313-678G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225588 | ||||||
| chr21:41225805
|
G | A | 7 | a0001c0001t0005g0140a0001c0001t0005g0246a0001c0001t0008g0080others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225805 | ||||||
| chr21:41225877
|
C | A | 2 | a0001c0001t0011g0092a0001c0001t0020g0150 | 2 | HG03195.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.313-389C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225877 | ||||||
| chr21:41226141
|
C | CT | 58 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(55): Show | 58 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.313-116dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41226141 | |||||
| chr21:41226141
|
CT | C | 47 | a0001c0001t0002g0001a0001c0001t0003g0230a0001c0001t0004g0072others(44): Show | 48 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(45): Show |
intron_variant | MODIFIER | c.313-116delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41226141 | |||||
| chr21:41226179
|
T | G | 11 | a0001c0001t0005g0140a0001c0001t0005g0246a0001c0001t0008g0080others(8): Show | 11 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.313-87T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41226179 | ||||||
| chr21:41226469
|
A | G | 66 | a0001c0001t0002g0001a0001c0001t0003g0230a0001c0001t0004g0072others(63): Show | 67 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.401+115A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226469 | ||||||
| chr21:41226835
|
G | A | 2 | a0001c0001t0014g0003a0001c0001t0039g0004 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.401+481G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226835 | ||||||
| chr21:41226960
|
T | G | 121 | a0001c0001t0002g0001a0001c0001t0002g0035a0001c0001t0002g0066others(118): Show | 122 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(119): Show |
intron_variant | MODIFIER | c.401+606T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226960 | ||||||
| chr21:41227012
|
G | A | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.401+658G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227012 | ||||||
| chr21:41227032
|
G | A | 1 | a0001c0001t0002g0236 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.401+678G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227032 | ||||||
| chr21:41227291
|
T | A | 49 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(46): Show | 49 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.401+937T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227291 | ||||||
| chr21:41227313
|
C | T | 7 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(4): Show | 7 | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.401+959C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227313 | ||||||
| chr21:41227409
|
T | C | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.401+1055T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227409 | ||||||
| chr21:41227437
|
A | G | 123 | a0001c0001t0001g0173a0001c0001t0002g0001a0001c0001t0002g0035others(120): Show | 124 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(121): Show |
intron_variant | MODIFIER | c.401+1083A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227437 | ||||||
| chr21:41227554
|
C | T | 3 | a0001c0001t0003g0127a0001c0002t0001g0043a0001c0002t0056g0192 | 3 | HG02004.hp2 NA18950.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.401+1200C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227554 | ||||||
| chr21:41227672
|
C | T | 1 | a0001c0001t0003g0224 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.401+1318C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227672 | ||||||
| chr21:41227860
|
G | C | 27 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(24): Show | 27 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.401+1506G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227860 | ||||||
| chr21:41227883
|
G | A | 2 | a0001c0001t0005g0140a0001c0001t0008g0255 | 2 | HG02622.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.401+1529G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227883 | ||||||
| chr21:41227916
|
C | T | 40 | a0001c0001t0002g0001a0001c0001t0003g0230a0001c0001t0004g0072others(37): Show | 41 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.401+1562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227916 | ||||||
| chr21:41227945
|
C | T | 1 | a0001c0002t0001g0233 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.401+1591C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227945 | ||||||
| chr21:41228065
|
C | T | 1 | a0001c0002t0001g0096 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.401+1711C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228065 | ||||||
| chr21:41228244
|
C | T | 2 | a0001c0001t0011g0092a0001c0001t0020g0150 | 2 | HG03195.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.401+1890C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228244 | ||||||
| chr21:41228262
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.401+1908C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228262 | ||||||
| chr21:41228695
|
C | T | 1 | a0001c0002t0001g0118 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.401+2341C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228695 | ||||||
| chr21:41229007
|
G | A | 27 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(24): Show | 27 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.401+2653G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229007 | ||||||
| chr21:41229043
|
G | C | 1 | a0001c0001t0006g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.401+2689G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229043 | ||||||
| chr21:41229099
|
A | G | 29 | a0001c0001t0003g0178a0001c0001t0005g0005a0001c0001t0005g0008others(26): Show | 29 | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(26): Show |
intron_variant | MODIFIER | c.401+2745A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229099 | ||||||
| chr21:41229287
|
G | A | 119 | a0001c0001t0002g0001a0001c0001t0002g0035a0001c0001t0002g0066others(116): Show | 120 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(117): Show |
intron_variant | MODIFIER | c.401+2933G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229287 | ||||||
| chr21:41229338
|
A | G | 10 | a0001c0001t0007g0050a0001c0001t0007g0078a0001c0001t0007g0089others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.401+2984A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229338 | ||||||
| chr21:41229644
|
ACC | A | 33 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0005g0005others(30): Show | 33 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(30): Show |
intron_variant | MODIFIER | c.401+3291_401+3292d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229644 | ||||||
| chr21:41229814
|
A | G | 68 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(65): Show | 68 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.401+3460A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229814 | ||||||
| chr21:41229853
|
T | C | 10 | a0001c0001t0007g0050a0001c0001t0007g0078a0001c0001t0007g0089others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.401+3499T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229853 | ||||||
| chr21:41229918
|
G | A | 1 | a0001c0001t0008g0257 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.401+3564G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229918 | ||||||
| chr21:41229925
|
C | A | 2 | a0001c0001t0003g0191a0001c0002t0001g0167 | 2 | NA18979.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.401+3571C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229925 | ||||||
| chr21:41230132
|
C | T | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.401+3778C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230132 | ||||||
| chr21:41230149
|
G | A | 1 | a0001c0002t0055g0168 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.401+3795G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230149 | ||||||
| chr21:41230161
|
A | G | 34 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(31): Show | 34 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(31): Show |
intron_variant | MODIFIER | c.401+3807A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230161 | ||||||
| chr21:41230217
|
G | A | 1 | a0001c0001t0003g0015 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.401+3863G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230217 | ||||||
| chr21:41230416
|
C | T | 5 | a0001c0002t0001g0040a0001c0002t0001g0065a0001c0002t0001g0235others(2): Show | 5 | HG01261.hp2 HG01952.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.401+4062C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230416 | ||||||
| chr21:41230808
|
A | G | 67 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(64): Show | 67 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.401+4454A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230808 | ||||||
| chr21:41230874
|
T | C | 4 | a0001c0001t0008g0080a0001c0001t0014g0177a0001c0001t0014g0250others(1): Show | 4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.401+4520T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230874 | ||||||
| chr21:41231458
|
G | A | 1 | a0001c0002t0001g0055 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.401+5104G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41231458 | ||||||
| chr21:41231985
|
G | A | 1 | a0001c0001t0042g0248 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.402-5528G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41231985 | ||||||
| chr21:41232020
|
CT | C | 40 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(37): Show | 40 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(37): Show |
intron_variant | MODIFIER | c.402-5476delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232020 | |||||
| chr21:41232020
|
CTT | C | 33 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0005g0005others(30): Show | 33 | HG01106.hp2 HG01256.hp2 HG02055.hp2 others(30): Show |
intron_variant | MODIFIER | c.402-5477_402-5476d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232020 | |||||
| chr21:41232576
|
G | C | 1 | a0001c0001t0004g0095 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.402-4937G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232576 | ||||||
| chr21:41232597
|
C | T | 9 | a0001c0001t0007g0050a0001c0001t0007g0078a0001c0001t0007g0089others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.402-4916C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232597 | ||||||
| chr21:41232598
|
G | A | 2 | a0001c0001t0012g0137a0001c0001t0042g0248 | 2 | HG00741.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.402-4915G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232598 | ||||||
| chr21:41232691
|
C | A | 2 | a0001c0002t0001g0106a0001c0002t0003g0181 | 2 | NA18939.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.402-4822C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232691 | ||||||
| chr21:41232699
|
C | T | 9 | a0001c0001t0007g0050a0001c0001t0007g0078a0001c0001t0007g0089others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.402-4814C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232699 | ||||||
| chr21:41232868
|
A | AT | 30 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0002g0001others(27): Show | 31 | HG00738.hp2 HG01081.hp2 HG01175.hp1 others(28): Show |
intron_variant | MODIFIER | c.402-4627dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | |||||
| chr21:41232868
|
A | ATT | 28 | a0001c0001t0002g0035a0001c0001t0002g0066a0001c0001t0002g0073others(25): Show | 28 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.402-4628_402-4627d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | |||||
| chr21:41232868
|
AT | A | 24 | a0001c0001t0003g0064a0001c0001t0003g0186a0001c0001t0004g0214others(21): Show | 24 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.402-4627delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | |||||
| chr21:41232899
|
C | T | 4 | a0001c0001t0014g0003a0001c0001t0017g0146a0001c0001t0017g0270others(1): Show | 4 | HG02723.hp1 HG03098.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.402-4614C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232899 | ||||||
| chr21:41232954
|
C | T | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.402-4559C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232954 | ||||||
| chr21:41232955
|
A | G | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.402-4558A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232955 | ||||||
| chr21:41233017
|
C | T | 1 | a0001c0001t0042g0248 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.402-4496C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233017 | ||||||
| chr21:41233034
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-4479A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233034 | ||||||
| chr21:41233070
|
G | A | 2 | a0001c0002t0001g0111a0001c0002t0001g0225 | 2 | HG01361.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.402-4443G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233070 | ||||||
| chr21:41233184
|
G | T | 1 | a0001c0001t0011g0063 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.402-4329G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233184 | ||||||
| chr21:41233289
|
A | G | 39 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0005g0005others(36): Show | 39 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(36): Show |
intron_variant | MODIFIER | c.402-4224A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233289 | ||||||
| chr21:41233346
|
C | T | 33 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0005g0005others(30): Show | 33 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(30): Show |
intron_variant | MODIFIER | c.402-4167C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233346 | ||||||
| chr21:41233379
|
G | GTC | 39 | a0001c0001t0003g0178a0001c0001t0004g0214a0001c0001t0005g0005others(36): Show | 39 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(36): Show |
intron_variant | MODIFIER | c.402-4133_402-4132d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41233379 | |||||
| chr21:41233415
|
A | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-4098A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233415 | ||||||
| chr21:41233581
|
A | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.402-3932A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233581 | ||||||
| chr21:41233698
|
C | T | 1 | a0001c0001t0008g0010 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.402-3815C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233698 | ||||||
| chr21:41233830
|
A | T | 2 | a0001c0001t0007g0075a0001c0001t0033g0037 | 2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.402-3683A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233830 | ||||||
| chr21:41233919
|
G | C | 72 | a0001c0001t0001g0120a0001c0001t0002g0001a0001c0001t0002g0035others(69): Show | 73 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.402-3594G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233919 | ||||||
| chr21:41233996
|
G | A | 2 | a0001c0002t0001g0237a0001c0002t0001g0259 | 2 | HG02132.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.402-3517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233996 | ||||||
| chr21:41234127
|
G | A | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.402-3386G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234127 | ||||||
| chr21:41234223
|
T | A | 26 | a0001c0001t0002g0087a0001c0001t0002g0148a0001c0001t0002g0154others(23): Show | 26 | HG00280.hp1 HG01069.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.402-3290T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234223 | ||||||
| chr21:41234265
|
C | T | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.402-3248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234265 | ||||||
| chr21:41234266
|
G | A | 5 | a0001c0001t0002g0026a0001c0001t0002g0049a0001c0001t0008g0034others(2): Show | 5 | HG01167.hp1 HG01361.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-3247G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234266 | ||||||
| chr21:41234295
|
C | T | 126 | a0001c0001t0001g0120a0001c0001t0002g0001a0001c0001t0002g0035others(123): Show | 127 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(124): Show |
intron_variant | MODIFIER | c.402-3218C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234295 | ||||||
| chr21:41234374
|
C | G | 11 | a0001c0001t0005g0140a0001c0001t0007g0075a0001c0001t0008g0080others(8): Show | 11 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.402-3139C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234374 | ||||||
| chr21:41234466
|
A | G | 38 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(35): Show | 38 | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.402-3047A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234466 | ||||||
| chr21:41234597
|
C | G | 140 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(137): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.402-2916C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234597 | ||||||
| chr21:41234622
|
T | A | 1 | a0001c0002t0001g0131 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.402-2891T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234622 | ||||||
| chr21:41234678
|
G | A | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.402-2835G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234678 | ||||||
| chr21:41234707
|
A | C | 2 | a0001c0001t0005g0162a0001c0001t0005g0240 | 2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.402-2806A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234707 | ||||||
| chr21:41234715
|
G | A | 6 | a0001c0001t0008g0080a0001c0001t0008g0086a0001c0001t0012g0152others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.402-2798G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234715 | ||||||
| chr21:41234748
|
G | C | 5 | a0001c0001t0005g0005a0001c0001t0005g0147a0001c0001t0009g0229others(2): Show | 5 | HG02258.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-2765G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234748 | ||||||
| chr21:41234775
|
A | G | 5 | a0001c0001t0005g0005a0001c0001t0005g0147a0001c0001t0009g0229others(2): Show | 5 | HG02258.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-2738A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234775 | ||||||
| chr21:41234784
|
A | G | 3 | a0001c0001t0007g0201a0001c0001t0029g0145a0001c0006t0052g0263 | 3 | HG01106.hp2 HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.402-2729A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234784 | ||||||
| chr21:41234830
|
T | C | 30 | a0001c0001t0002g0001a0001c0001t0002g0070a0001c0001t0006g0169others(27): Show | 31 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.402-2683T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234830 | ||||||
| chr21:41234839
|
G | A | 3 | a0001c0001t0007g0201a0001c0001t0029g0145a0001c0006t0052g0263 | 3 | HG01106.hp2 HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.402-2674G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234839 | ||||||
| chr21:41234915
|
C | T | 25 | a0001c0001t0001g0120a0001c0001t0002g0035a0001c0001t0002g0066others(22): Show | 25 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.402-2598C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234915 | ||||||
| chr21:41234960
|
G | A | 1 | a0001c0002t0001g0055 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.402-2553G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234960 | ||||||
| chr21:41235135
|
C | T | 1 | a0001c0001t0004g0158 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.402-2378C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235135 | ||||||
| chr21:41235245
|
T | G | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.402-2268T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235245 | ||||||
| chr21:41235283
|
A | G | 5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-2230A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235283 | ||||||
| chr21:41235300
|
T | C | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-2213T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235300 | ||||||
| chr21:41235379
|
G | A | 24 | a0001c0001t0001g0120a0001c0001t0002g0035a0001c0001t0002g0066others(21): Show | 24 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(21): Show |
intron_variant | MODIFIER | c.402-2134G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235379 | ||||||
| chr21:41235380
|
T | C | 30 | a0001c0001t0005g0140a0001c0001t0007g0002a0001c0001t0007g0050others(27): Show | 30 | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.402-2133T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235380 | ||||||
| chr21:41235384
|
C | T | 1 | a0001c0001t0003g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.402-2129C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235384 | ||||||
| chr21:41235476
|
G | A | 1 | a0001c0001t0003g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.402-2037G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235476 | ||||||
| chr21:41235671
|
G | T | 1 | a0001c0002t0023g0176 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.402-1842G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235671 | ||||||
| chr21:41235742
|
A | T | 4 | a0001c0001t0005g0246a0001c0001t0008g0255a0001c0001t0061g0098others(1): Show | 4 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-1771A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235742 | ||||||
| chr21:41235854
|
A | AAATG | 64 | a0001c0001t0002g0001a0001c0001t0002g0070a0001c0001t0005g0140others(61): Show | 65 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(62): Show |
intron_variant | MODIFIER | c.402-1636_402-1633d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41235854 | |||||
| chr21:41235854
|
A | AAATGAAT others(5): Show |
5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-1644_402-1633d others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41235854 | |||||
| chr21:41235965
|
T | G | 5 | a0001c0001t0005g0246a0001c0001t0008g0255a0001c0001t0028g0079others(2): Show | 5 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-1548T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235965 | ||||||
| chr21:41235971
|
G | A | 1 | a0001c0001t0006g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.402-1542G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235971 | ||||||
| chr21:41236018
|
T | C | 1 | a0001c0001t0004g0018 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.402-1495T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236018 | ||||||
| chr21:41236077
|
A | G | 5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-1436A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236077 | ||||||
| chr21:41236157
|
A | G | 1 | a0001c0002t0001g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.402-1356A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236157 | ||||||
| chr21:41236304
|
A | G | 97 | a0001c0001t0001g0120a0001c0001t0002g0001a0001c0001t0002g0035others(94): Show | 98 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.402-1209A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236304 | ||||||
| chr21:41236356
|
C | T | 7 | a0001c0001t0005g0140a0001c0001t0008g0080a0001c0001t0008g0086others(4): Show | 7 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.402-1157C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236356 | ||||||
| chr21:41236483
|
G | A | 1 | a0001c0001t0003g0083 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.402-1030G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236483 | ||||||
| chr21:41236498
|
C | T | 1 | a0001c0002t0001g0124 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.402-1015C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236498 | ||||||
| chr21:41236632
|
G | C | 4 | a0001c0001t0005g0246a0001c0001t0008g0255a0001c0001t0061g0098others(1): Show | 4 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-881G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236632 | ||||||
| chr21:41236745
|
C | T | 2 | a0001c0001t0005g0008a0001c0001t0054g0170 | 2 | HG02965.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.402-768C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236745 | ||||||
| chr21:41236810
|
G | A | 1 | a0001c0002t0001g0100 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.402-703G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236810 | ||||||
| chr21:41236925
|
T | G | 3 | a0001c0001t0003g0178a0001c0001t0027g0182a0001c0002t0059g0265 | 3 | HG02258.hp2 HG02615.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.402-588T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236925 | ||||||
| chr21:41236927
|
C | A | 84 | a0001c0001t0001g0120a0001c0001t0002g0001a0001c0001t0002g0035others(81): Show | 85 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(82): Show |
intron_variant | MODIFIER | c.402-586C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236927 | ||||||
| chr21:41236943
|
C | A | 28 | a0001c0001t0003g0178a0001c0001t0004g0023a0001c0001t0004g0072others(25): Show | 28 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(25): Show |
intron_variant | MODIFIER | c.402-570C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236943 | ||||||
| chr21:41236949
|
C | G | 4 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0030g0208others(1): Show | 4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-564C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236949 | ||||||
| chr21:41237010
|
G | A | 20 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(17): Show | 20 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.402-503G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237010 | ||||||
| chr21:41237135
|
A | G | 20 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(17): Show | 20 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.402-378A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237135 | ||||||
| chr21:41237185
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.402-328C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237185 | ||||||
| chr21:41237243
|
C | T | 1 | a0001c0001t0021g0027 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.402-270C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237243 | ||||||
| chr21:41237248
|
C | T | 1 | a0001c0002t0022g0183 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.402-265C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237248 | ||||||
| chr21:41237378
|
G | A | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.402-135G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237378 | ||||||
| chr21:41237846
|
T | C | 1 | a0001c0001t0005g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.618+117T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237846 | ||||||
| chr21:41237863
|
C | G | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.618+134C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237863 | ||||||
| chr21:41237865
|
T | G | 4 | a0001c0001t0004g0018a0001c0001t0004g0129a0001c0001t0004g0172others(1): Show | 4 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(1): Show |
intron_variant | MODIFIER | c.618+136T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237865 | ||||||
| chr21:41237926
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+197C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237926 | ||||||
| chr21:41237942
|
G | A | 143 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(140): Show | 144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.618+213G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237942 | ||||||
| chr21:41237966
|
A | G | 23 | a0001c0001t0002g0001a0001c0001t0002g0070a0001c0001t0006g0169others(20): Show | 24 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.618+237A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237966 | ||||||
| chr21:41238081
|
C | T | 2 | a0001c0002t0001g0045a0001c0002t0055g0168 | 2 | HG00642.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.618+352C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238081 | ||||||
| chr21:41238147
|
G | C | 1 | a0001c0002t0001g0033 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.618+418G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238147 | ||||||
| chr21:41238291
|
C | T | 5 | a0001c0001t0006g0059a0001c0001t0006g0097a0001c0001t0006g0189others(2): Show | 5 | HG01192.hp2 HG03491.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.618+562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238291 | ||||||
| chr21:41238337
|
A | G | 15 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(12): Show | 15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.618+608A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238337 | ||||||
| chr21:41238386
|
T | C | 15 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(12): Show | 15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.618+657T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238386 | ||||||
| chr21:41238781
|
T | C | 1 | a0001c0002t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.618+1052T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238781 | ||||||
| chr21:41238809
|
G | C | 3 | a0001c0001t0006g0189a0001c0001t0006g0196a0001c0001t0006g0199 | 3 | HG03491.hp2 HG03492.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.618+1080G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238809 | ||||||
| chr21:41238815
|
A | G | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.618+1086A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238815 | ||||||
| chr21:41238816
|
G | A | 1 | a0001c0001t0002g0001 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.618+1087G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238816 | ||||||
| chr21:41238831
|
C | A | 1 | a0001c0001t0003g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.618+1102C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238831 | ||||||
| chr21:41238833
|
T | G | 1 | a0001c0001t0003g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.618+1104T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238833 | ||||||
| chr21:41238854
|
G | C | 2 | a0001c0002t0001g0048a0001c0002t0001g0118 | 2 | HG03654.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.618+1125G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238854 | ||||||
| chr21:41238867
|
T | A | 1 | a0001c0001t0043g0227 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.618+1138T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238867 | ||||||
| chr21:41238871
|
C | T | 1 | a0001c0002t0001g0135 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.618+1142C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238871 | ||||||
| chr21:41238877
|
G | A | 1 | a0001c0002t0001g0135 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.618+1148G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238877 | ||||||
| chr21:41238917
|
A | G | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.618+1188A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238917 | ||||||
| chr21:41238954
|
TA | T | 209 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(206): Show | 209 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.618+1250delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr21 | 41238954 | |||||
| chr21:41238954
|
TAA | T | 21 | a0001c0001t0002g0049a0001c0001t0002g0066a0001c0001t0002g0245others(18): Show | 21 | HG01070.hp2 HG01167.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.618+1249_618+1250d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr21 | 41238954 | |||||
| chr21:41239031
|
C | G | 1 | a0001c0001t0008g0267 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.618+1302C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239031 | ||||||
| chr21:41239034
|
G | T | 1 | a0001c0002t0001g0124 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.618+1305G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239034 | ||||||
| chr21:41239050
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+1321C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239050 | ||||||
| chr21:41239051
|
G | A | 5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.618+1322G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239051 | ||||||
| chr21:41239099
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+1370C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239099 | ||||||
| chr21:41239175
|
A | C | 3 | a0001c0001t0005g0024a0001c0001t0005g0243a0001c0001t0008g0257 | 3 | HG02055.hp2 HG02145.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.618+1446A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239175 | ||||||
| chr21:41239414
|
A | G | 2 | a0001c0002t0025g0144a0001c0004t0025g0082 | 2 | NA18980.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.618+1685A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239414 | ||||||
| chr21:41239593
|
G | T | 38 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(35): Show | 38 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.618+1864G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239593 | ||||||
| chr21:41239667
|
G | A | 5 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(2): Show | 5 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.618+1938G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239667 | ||||||
| chr21:41239683
|
C | T | 270 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(267): Show | 271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.618+1954C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239683 | ||||||
| chr21:41239712
|
A | G | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.618+1983A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239712 | ||||||
| chr21:41239782
|
A | G | 1 | a0001c0002t0001g0188 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.619-2037A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239782 | ||||||
| chr21:41239820
|
C | T | 1 | a0001c0002t0060g0143 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.619-1999C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239820 | ||||||
| chr21:41239897
|
A | G | 15 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(12): Show | 15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.619-1922A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239897 | ||||||
| chr21:41240068
|
T | C | 10 | a0001c0001t0005g0140a0001c0001t0007g0201a0001c0001t0008g0080others(7): Show | 10 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.619-1751T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240068 | ||||||
| chr21:41240227
|
G | A | 21 | a0001c0001t0002g0001a0001c0001t0002g0070a0001c0001t0006g0169others(18): Show | 22 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.619-1592G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240227 | ||||||
| chr21:41240498
|
C | A | 5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.619-1321C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240498 | ||||||
| chr21:41240499
|
G | A | 36 | a0001c0001t0001g0120a0001c0001t0002g0007a0001c0001t0002g0026others(33): Show | 36 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.619-1320G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240499 | ||||||
| chr21:41240560
|
C | A | 1 | a0001c0001t0007g0075 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.619-1259C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240560 | ||||||
| chr21:41240624
|
G | T | 5 | a0001c0001t0003g0178a0001c0001t0005g0030a0001c0001t0005g0058others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.619-1195G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240624 | ||||||
| chr21:41240706
|
C | T | 1 | a0001c0001t0017g0146 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.619-1113C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240706 | ||||||
| chr21:41240909
|
T | A | 1 | a0001c0002t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.619-910T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240909 | ||||||
| chr21:41240953
|
G | A | 48 | a0001c0001t0001g0120a0001c0001t0002g0007a0001c0001t0002g0026others(45): Show | 48 | HG00140.hp1 HG00408.hp2 HG00741.hp2 others(45): Show |
intron_variant | MODIFIER | c.619-866G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240953 | ||||||
| chr21:41241079
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.619-740C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241079 | ||||||
| chr21:41241099
|
C | T | 2 | a0001c0001t0029g0145a0001c0003t0005g0051 | 2 | HG01106.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.619-720C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241099 | ||||||
| chr21:41241211
|
G | A | 4 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0030g0208others(1): Show | 4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.619-608G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241211 | ||||||
| chr21:41241252
|
A | G | 4 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0030g0208others(1): Show | 4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.619-567A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241252 | ||||||
| chr21:41241328
|
C | G | 11 | a0001c0001t0002g0001a0001c0001t0006g0169a0001c0001t0009g0119others(8): Show | 12 | HG01099.hp1 HG01109.hp2 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.619-491C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241328 | ||||||
| chr21:41241417
|
G | A | 141 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(138): Show | 141 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(138): Show |
intron_variant | MODIFIER | c.619-402G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241417 | ||||||
| chr21:41241618
|
A | G | 14 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0006g0059others(11): Show | 14 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.619-201A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241618 | ||||||
| chr21:41241741
|
G | A | 1 | a0001c0001t0002g0193 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.619-78G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241741 | ||||||
| chr21:41241998
|
GT | G | 35 | a0001c0001t0001g0120a0001c0001t0002g0007a0001c0001t0002g0026others(32): Show | 35 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(32): Show |
intron_variant | MODIFIER | c.747+58delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr21 | 41241998 | |||||
| chr21:41242146
|
G | A | 5 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(2): Show | 5 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.747+199G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242146 | ||||||
| chr21:41242219
|
T | C | 1 | a0001c0002t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.747+272T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242219 | ||||||
| chr21:41242275
|
G | A | 1 | a0001c0002t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.747+328G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242275 | ||||||
| chr21:41242339
|
T | TTC | 115 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(112): Show | 115 | HG00140.hp2 HG00408.hp1 HG00642.hp1 others(112): Show |
intron_variant | MODIFIER | c.747+409_747+410dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr21 | 41242339 | |||||
| chr21:41242413
|
C | G | 4 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0030g0208others(1): Show | 4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.747+466C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242413 | ||||||
| chr21:41242549
|
A | G | 1 | a0001c0002t0001g0046 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.747+602A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242549 | ||||||
| chr21:41242793
|
G | A | 4 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0030g0208others(1): Show | 4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.748-583G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242793 | ||||||
| chr21:41242870
|
G | A | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.748-506G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242870 | ||||||
| chr21:41242954
|
G | A | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.748-422G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242954 | ||||||
| chr21:41242978
|
G | T | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.748-398G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242978 | ||||||
| chr21:41243062
|
C | T | 1 | a0001c0001t0006g0059 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.748-314C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243062 | ||||||
| chr21:41243074
|
C | T | 1 | a0001c0001t0007g0201 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.748-302C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243074 | ||||||
| chr21:41243127
|
C | T | 9 | a0001c0001t0003g0178a0001c0001t0005g0246a0001c0001t0008g0255others(6): Show | 9 | HG02258.hp2 HG02615.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.748-249C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243127 | ||||||
| chr21:41243133
|
C | T | 1 | a0001c0001t0047g0157 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.748-243C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243133 | ||||||
| chr21:41243366
|
C | T | 129 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(126): Show | 129 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(126): Show |
intron_variant | MODIFIER | c.748-10C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243366 | ||||||
| chr21:41243580
|
C | G | 1 | a0001c0003t0005g0051 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.882+70C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243580 | ||||||
| chr21:41243667
|
G | A | 1 | a0001c0002t0001g0056 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.882+157G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243667 | ||||||
| chr21:41243727
|
T | A | 6 | a0001c0001t0003g0178a0001c0001t0005g0246a0001c0001t0008g0255others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.882+217T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243727 | ||||||
| chr21:41243732
|
A | G | 5 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(2): Show | 5 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.882+222A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243732 | ||||||
| chr21:41243879
|
G | A | 3 | a0001c0001t0014g0003a0001c0001t0020g0266a0001c0001t0028g0079 | 3 | HG02145.hp2 HG06807.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.882+369G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243879 | ||||||
| chr21:41243900
|
C | T | 1 | a0001c0001t0002g0236 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.882+390C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243900 | ||||||
| chr21:41243915
|
C | CT | 126 | a0001c0001t0001g0120a0001c0001t0001g0234a0001c0001t0001g0268others(123): Show | 126 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(123): Show |
intron_variant | MODIFIER | c.882+409dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41243915 | |||||
| chr21:41243932
|
C | T | 1 | a0001c0001t0014g0003 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.882+422C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243932 | ||||||
| chr21:41243944
|
C | A | 1 | a0001c0002t0001g0046 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.882+434C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243944 | ||||||
| chr21:41243973
|
A | C | 1 | a0001c0001t0044g0020 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.882+463A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243973 | ||||||
| chr21:41244078
|
C | T | 183 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(180): Show | 184 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(181): Show |
intron_variant | MODIFIER | c.882+568C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244078 | ||||||
| chr21:41244127
|
G | C | 2 | a0001c0001t0006g0171a0001c0001t0029g0145 | 2 | HG01106.hp2 HG01256.hp2 |
intron_variant | MODIFIER | c.882+617G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244127 | ||||||
| chr21:41244129
|
G | T | 1 | a0001c0002t0001g0197 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.882+619G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244129 | ||||||
| chr21:41244272
|
G | A | 2 | a0001c0001t0005g0008a0001c0001t0054g0170 | 2 | HG02965.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.882+762G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244272 | ||||||
| chr21:41244274
|
G | A | 28 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(25): Show | 28 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.882+764G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244274 | ||||||
| chr21:41244456
|
A | G | 7 | a0001c0001t0005g0140a0001c0001t0006g0171a0001c0001t0008g0080others(4): Show | 7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+946A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244456 | ||||||
| chr21:41244457
|
G | GT | 7 | a0001c0001t0005g0140a0001c0001t0006g0171a0001c0001t0008g0080others(4): Show | 7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+947_882+948ins others(1): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244457 | ||||||
| chr21:41244460
|
T | G | 7 | a0001c0001t0005g0140a0001c0001t0006g0171a0001c0001t0008g0080others(4): Show | 7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+950T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244460 | ||||||
| chr21:41244463
|
G | C | 7 | a0001c0001t0005g0140a0001c0001t0006g0171a0001c0001t0008g0080others(4): Show | 7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+953G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244463 | ||||||
| chr21:41244527
|
TAATGTCA others(44): Show |
T | 70 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(67): Show | 70 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(67): Show |
intron_variant | MODIFIER | c.882+1039_882+1089d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244527 | |||||
| chr21:41244549
|
GACTGGCC others(44): Show |
G | 58 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(55): Show | 59 | HG00408.hp1 HG00738.hp2 HG01074.hp2 others(56): Show |
intron_variant | MODIFIER | c.882+1042_882+1092d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244549 | |||||
| chr21:41244552
|
TGGCCATT others(44): Show |
T | 5 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(2): Show | 5 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.882+1065_882+1115d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244552 | |||||
| chr21:41244647
|
A | C | 18 | a0001c0001t0005g0030a0001c0001t0005g0058a0001c0001t0005g0147others(15): Show | 18 | HG00741.hp2 HG01099.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.882+1137A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244647 | ||||||
| chr21:41244804
|
T | C | 98 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(95): Show | 99 | HG00280.hp2 HG00408.hp1 HG00738.hp2 others(96): Show |
intron_variant | MODIFIER | c.883-1158T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244804 | ||||||
| chr21:41244807
|
A | G | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.883-1155A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244807 | ||||||
| chr21:41244830
|
G | A | 62 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(59): Show | 63 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(60): Show |
intron_variant | MODIFIER | c.883-1132G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244830 | ||||||
| chr21:41244863
|
C | CTG | 8 | a0001c0001t0003g0178a0001c0001t0007g0244a0001c0001t0009g0229others(5): Show | 8 | HG02258.hp2 HG02723.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.883-1082_883-1081d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | |||||
| chr21:41244863
|
C | CTGTG | 22 | a0001c0001t0004g0023a0001c0001t0004g0038a0001c0001t0004g0072others(19): Show | 22 | HG00408.hp1 HG01109.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.883-1084_883-1081d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | |||||
| chr21:41244863
|
C | CTGTGTG | 55 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(52): Show | 56 | HG00738.hp2 HG01070.hp1 HG01074.hp2 others(53): Show |
intron_variant | MODIFIER | c.883-1086_883-1081d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | |||||
| chr21:41244882
|
A | T | 1 | a0001c0002t0001g0256 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1080A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244882 | ||||||
| chr21:41244893
|
A | G | 1 | a0001c0002t0001g0256 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1069A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244893 | ||||||
| chr21:41244895
|
G | A | 1 | a0001c0002t0001g0256 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1067G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244895 | ||||||
| chr21:41245110
|
G | T | 223 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(220): Show | 224 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(221): Show |
intron_variant | MODIFIER | c.883-852G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245110 | ||||||
| chr21:41245438
|
G | A | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.883-524G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245438 | ||||||
| chr21:41245535
|
G | A | 1 | a0001c0002t0013g0220 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.883-427G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245535 | ||||||
| chr21:41245730
|
G | A | 101 | a0001c0001t0002g0001a0001c0001t0004g0218a0001c0001t0005g0161others(98): Show | 102 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.883-232G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245730 | ||||||
| chr21:41245829
|
A | G | 15 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0006g0059others(12): Show | 15 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.883-133A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245829 | ||||||
| chr21:41245894
|
C | T | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.883-68C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245894 | ||||||
| chr21:41245904
|
G | T | 3 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.883-58G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245904 | ||||||
| chr21:41246211
|
T | C | 7 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(4): Show | 7 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.984+148T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246211 | ||||||
| chr21:41246305
|
G | A | 226 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(223): Show | 227 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(224): Show |
intron_variant | MODIFIER | c.984+242G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246305 | ||||||
| chr21:41246451
|
G | A | 64 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(61): Show | 64 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(61): Show |
intron_variant | MODIFIER | c.984+388G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246451 | ||||||
| chr21:41246476
|
G | A | 226 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(223): Show | 227 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(224): Show |
intron_variant | MODIFIER | c.984+413G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246476 | ||||||
| chr21:41246524
|
C | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.984+461C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246524 | ||||||
| chr21:41246529
|
T | A | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.984+466T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246529 | ||||||
| chr21:41246701
|
G | A | 2 | a0001c0001t0005g0024a0001c0001t0005g0243 | 2 | HG02055.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.984+638G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246701 | ||||||
| chr21:41246737
|
C | T | 1 | a0001c0001t0036g0019 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.984+674C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246737 | ||||||
| chr21:41246771
|
G | C | 1 | a0001c0002t0001g0231 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.984+708G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246771 | ||||||
| chr21:41246808
|
A | G | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+745A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246808 | ||||||
| chr21:41246826
|
G | A | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+763G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246826 | ||||||
| chr21:41247086
|
G | A | 6 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(3): Show | 6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+1023G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247086 | ||||||
| chr21:41247241
|
C | T | 1 | a0001c0002t0001g0197 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.984+1178C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247241 | ||||||
| chr21:41247327
|
A | G | 91 | a0001c0001t0004g0218a0001c0001t0009g0042a0001c0001t0009g0047others(88): Show | 91 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(88): Show |
intron_variant | MODIFIER | c.984+1264A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247327 | ||||||
| chr21:41247347
|
A | G | 30 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0003g0178others(27): Show | 30 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(27): Show |
intron_variant | MODIFIER | c.984+1284A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247347 | ||||||
| chr21:41247532
|
A | G | 1 | a0001c0002t0001g0025 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.984+1469A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247532 | ||||||
| chr21:41247569
|
G | A | 1 | a0001c0001t0002g0236 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.984+1506G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247569 | ||||||
| chr21:41247617
|
C | A | 158 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(155): Show | 159 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.984+1554C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247617 | ||||||
| chr21:41247678
|
C | T | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+1615C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247678 | ||||||
| chr21:41247693
|
A | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.984+1630A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247693 | ||||||
| chr21:41247727
|
A | G | 5 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.984+1664A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247727 | ||||||
| chr21:41247730
|
G | A | 186 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(183): Show | 186 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(183): Show |
intron_variant | MODIFIER | c.984+1667G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247730 | ||||||
| chr21:41247822
|
T | C | 168 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0003g0178others(165): Show | 168 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(165): Show |
intron_variant | MODIFIER | c.984+1759T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247822 | ||||||
| chr21:41247843
|
G | A | 17 | a0001c0001t0006g0169a0001c0001t0006g0171a0001c0001t0007g0002others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(14): Show |
intron_variant | MODIFIER | c.984+1780G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247843 | ||||||
| chr21:41247923
|
G | A | 2 | a0001c0001t0006g0169a0001c0001t0006g0171 | 2 | HG01256.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.984+1860G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247923 | ||||||
| chr21:41247949
|
T | C | 1 | a0001c0002t0001g0033 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.984+1886T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247949 | ||||||
| chr21:41248142
|
G | A | 1 | a0001c0002t0001g0043 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.984+2079G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248142 | ||||||
| chr21:41248192
|
C | A | 70 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(67): Show | 70 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.984+2129C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248192 | ||||||
| chr21:41248222
|
G | A | 70 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(67): Show | 70 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.984+2159G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248222 | ||||||
| chr21:41248233
|
G | A | 70 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(67): Show | 70 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.984+2170G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248233 | ||||||
| chr21:41248385
|
G | A | 7 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(4): Show | 7 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.984+2322G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248385 | ||||||
| chr21:41248426
|
G | A | 3 | a0001c0001t0004g0018a0001c0001t0004g0129a0001c0001t0004g0172 | 3 | HG01074.hp2 HG01175.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.985-2326G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248426 | ||||||
| chr21:41248440
|
T | C | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.985-2312T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248440 | ||||||
| chr21:41248459
|
C | G | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-2293C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248459 | ||||||
| chr21:41248474
|
C | T | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.985-2278C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248474 | ||||||
| chr21:41248558
|
T | C | 8 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(5): Show | 8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-2194T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248558 | ||||||
| chr21:41248593
|
T | C | 178 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(175): Show | 178 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(175): Show |
intron_variant | MODIFIER | c.985-2159T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248593 | ||||||
| chr21:41248705
|
C | G | 8 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(5): Show | 8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-2047C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248705 | ||||||
| chr21:41248750
|
G | A | 11 | a0001c0001t0004g0023a0001c0001t0004g0072a0001c0001t0004g0074others(8): Show | 11 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.985-2002G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248750 | ||||||
| chr21:41248753
|
G | T | 89 | a0001c0002t0001g0025a0001c0002t0001g0028a0001c0002t0001g0029others(86): Show | 89 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
intron_variant | MODIFIER | c.985-1999G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248753 | ||||||
| chr21:41248787
|
C | T | 88 | a0001c0002t0001g0025a0001c0002t0001g0028a0001c0002t0001g0029others(85): Show | 88 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(85): Show |
intron_variant | MODIFIER | c.985-1965C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248787 | ||||||
| chr21:41248866
|
C | A | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.985-1886C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248866 | ||||||
| chr21:41248868
|
G | A | 6 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(3): Show | 6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-1884G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248868 | ||||||
| chr21:41248962
|
T | C | 8 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(5): Show | 8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-1790T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248962 | ||||||
| chr21:41248990
|
C | A | 1 | a0001c0001t0033g0037 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.985-1762C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248990 | ||||||
| chr21:41249029
|
G | A | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.985-1723G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249029 | ||||||
| chr21:41249055
|
C | G | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-1697C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249055 | ||||||
| chr21:41249148
|
TTAGTGAG others(36): Show |
T | 24 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(21): Show | 24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.985-1572_985-1530d others(45): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249148 | |||||
| chr21:41249180
|
T | G | 6 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(3): Show | 6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-1572T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249180 | ||||||
| chr21:41249241
|
GC | G | 24 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(21): Show | 24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.985-1506delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249241 | |||||
| chr21:41249242
|
C | CCCCCACA others(36): Show |
4 | a0001c0002t0001g0048a0001c0002t0023g0094a0001c0002t0023g0176others(1): Show | 4 | HG02683.hp1 HG02738.hp2 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.985-1474_985-1432d others(45): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249242 | |||||
| chr21:41249242
|
C | CCCCCACA others(79): Show |
167 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(164): Show | 167 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(164): Show |
intron_variant | MODIFIER | c.985-1432_985-1431i others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249242 | |||||
| chr21:41249250
|
T | TGTACACT others(79): Show |
15 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0075others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.985-1432_985-1431i others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249250 | |||||
| chr21:41249305
|
CTCAGGGG others(79): Show |
C | 1 | a0001c0001t0011g0071 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.985-1431_985-1346d others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249305 | |||||
| chr21:41249321
|
C | T | 1 | a0001c0002t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1431C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249321 | ||||||
| chr21:41249362
|
A | G | 12 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(9): Show | 12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1390A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249362 | ||||||
| chr21:41249391
|
T | C | 12 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(9): Show | 12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1361T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249391 | ||||||
| chr21:41249405
|
G | A | 1 | a0001c0002t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1347G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249405 | ||||||
| chr21:41249407
|
T | C | 1 | a0001c0002t0001g0048 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1345T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249407 | ||||||
| chr21:41249542
|
A | G | 12 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(9): Show | 12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1210A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249542 | ||||||
| chr21:41249578
|
G | A | 1 | a0001c0001t0015g0090 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.985-1174G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249578 | ||||||
| chr21:41249621
|
C | T | 20 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(17): Show | 20 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(17): Show |
intron_variant | MODIFIER | c.985-1131C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249621 | ||||||
| chr21:41249852
|
G | C | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-900G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249852 | ||||||
| chr21:41249915
|
G | A | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-837G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249915 | ||||||
| chr21:41250154
|
T | A | 15 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(12): Show | 15 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.985-598T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250154 | ||||||
| chr21:41250286
|
A | G | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-466A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250286 | ||||||
| chr21:41250295
|
C | T | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-457C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250295 | ||||||
| chr21:41250540
|
A | C | 2 | a0001c0001t0006g0169a0001c0001t0006g0171 | 2 | HG01256.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.985-212A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250540 | ||||||
| chr21:41250552
|
A | G | 256 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(253): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(254): Show |
intron_variant | MODIFIER | c.985-200A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250552 | ||||||
| chr21:41250563
|
C | A | 6 | a0001c0001t0011g0071a0001c0001t0012g0137a0001c0001t0012g0142others(3): Show | 6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-189C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250563 | ||||||
| chr21:41250730
|
G | C | 217 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(214): Show | 217 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(214): Show |
intron_variant | MODIFIER | c.985-22G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250730 | ||||||
| chr21:41250977
|
G | A | 1 | a0001c0001t0011g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1134+76G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41250977 | ||||||
| chr21:41251383
|
C | T | 16 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0075others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1134+482C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251383 | ||||||
| chr21:41251528
|
C | T | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1134+627C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251528 | ||||||
| chr21:41251766
|
AC | A | 21 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(18): Show | 21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+866delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251766 | ||||||
| chr21:41251778
|
C | T | 4 | a0001c0002t0001g0028a0001c0002t0001g0029a0001c0002t0001g0135others(1): Show | 4 | HG00733.hp1 HG00741.hp1 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.1134+877C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251778 | ||||||
| chr21:41251817
|
C | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+916C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251817 | ||||||
| chr21:41252009
|
G | A | 1 | a0001c0001t0046g0269 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1134+1108G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252009 | ||||||
| chr21:41252197
|
G | A | 27 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(24): Show | 27 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.1134+1296G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252197 | ||||||
| chr21:41252287
|
G | T | 22 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(19): Show |
intron_variant | MODIFIER | c.1134+1386G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252287 | ||||||
| chr21:41252295
|
C | T | 1 | a0001c0002t0001g0253 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1134+1394C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252295 | ||||||
| chr21:41252296
|
C | A | 3 | a0001c0002t0001g0028a0001c0002t0001g0029a0001c0002t0001g0135 | 3 | HG00733.hp1 HG00741.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1134+1395C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252296 | ||||||
| chr21:41252406
|
A | G | 1 | a0001c0001t0005g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1134+1505A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252406 | ||||||
| chr21:41252434
|
C | T | 2 | a0001c0001t0003g0178a0001c0001t0027g0182 | 2 | HG02258.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1134+1533C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252434 | ||||||
| chr21:41252543
|
C | T | 32 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(29): Show | 32 | HG00408.hp1 HG00741.hp2 HG01074.hp2 others(29): Show |
intron_variant | MODIFIER | c.1134+1642C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252543 | ||||||
| chr21:41252688
|
G | A | 1 | a0001c0001t0015g0067 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1134+1787G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252688 | ||||||
| chr21:41252695
|
G | T | 27 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(24): Show | 27 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.1134+1794G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252695 | ||||||
| chr21:41252907
|
GCCGACA | G | 33 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(30): Show | 33 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.1134+2007_1134+201 others(10): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252907 | ||||||
| chr21:41252914
|
G | A | 33 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(30): Show | 33 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.1134+2013G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252914 | ||||||
| chr21:41253118
|
G | C | 1 | a0001c0001t0004g0141 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1134+2217G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253118 | ||||||
| chr21:41253163
|
C | T | 1 | a0001c0001t0002g0001 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1134+2262C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253163 | ||||||
| chr21:41253164
|
G | A | 1 | a0001c0001t0003g0127 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1134+2263G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253164 | ||||||
| chr21:41253224
|
G | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2323G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253224 | ||||||
| chr21:41253237
|
C | T | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2336C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253237 | ||||||
| chr21:41253284
|
A | T | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1134+2383A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253284 | ||||||
| chr21:41253343
|
A | G | 211 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(208): Show | 211 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(208): Show |
intron_variant | MODIFIER | c.1134+2442A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253343 | ||||||
| chr21:41253350
|
G | A | 22 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(19): Show | 22 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(19): Show |
intron_variant | MODIFIER | c.1134+2449G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253350 | ||||||
| chr21:41253393
|
G | C | 2 | a0001c0001t0017g0146a0001c0001t0017g0270 | 2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1134+2492G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253393 | ||||||
| chr21:41253418
|
G | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253418 | ||||||
| chr21:41253441
|
C | CA | 79 | a0001c0001t0003g0178a0001c0001t0004g0228a0001c0001t0005g0008others(76): Show | 79 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(76): Show |
intron_variant | MODIFIER | c.1134+2558dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | |||||
| chr21:41253441
|
C | CAA | 8 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(5): Show | 8 | HG01081.hp1 HG01106.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.1134+2557_1134+255 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | |||||
| chr21:41253441
|
CA | C | 33 | a0001c0001t0003g0224a0001c0001t0004g0072a0001c0001t0005g0161others(30): Show | 33 | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(30): Show |
intron_variant | MODIFIER | c.1134+2558delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | |||||
| chr21:41253463
|
C | T | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253463 | ||||||
| chr21:41253464
|
G | A | 21 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(18): Show | 21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+2563G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253464 | ||||||
| chr21:41253498
|
G | A | 3 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1134+2597G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253498 | ||||||
| chr21:41253529
|
G | T | 1 | a0001c0001t0005g0240 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1134+2628G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253529 | ||||||
| chr21:41253556
|
G | A | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1134+2655G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253556 | ||||||
| chr21:41253617
|
G | A | 21 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(18): Show | 21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+2716G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253617 | ||||||
| chr21:41253983
|
G | A | 1 | a0001c0001t0003g0125 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1134+3082G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253983 | ||||||
| chr21:41254109
|
A | G | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1135-3049A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254109 | ||||||
| chr21:41254187
|
A | C | 5 | a0001c0001t0005g0246a0001c0001t0007g0201a0001c0001t0038g0103others(2): Show | 5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1135-2971A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254187 | ||||||
| chr21:41254303
|
C | T | 1 | a0001c0002t0057g0057 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1135-2855C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254303 | ||||||
| chr21:41254428
|
G | T | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1135-2730G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254428 | ||||||
| chr21:41254435
|
C | A | 205 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(202): Show | 205 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(202): Show |
intron_variant | MODIFIER | c.1135-2723C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254435 | ||||||
| chr21:41254474
|
T | C | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-2684T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254474 | ||||||
| chr21:41254533
|
C | T | 2 | a0001c0001t0014g0177a0001c0001t0014g0250 | 2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1135-2625C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254533 | ||||||
| chr21:41254734
|
T | G | 1 | a0001c0001t0001g0165 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1135-2424T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254734 | ||||||
| chr21:41254779
|
T | C | 211 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(208): Show | 211 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(208): Show |
intron_variant | MODIFIER | c.1135-2379T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254779 | ||||||
| chr21:41254813
|
C | T | 1 | a0001c0001t0003g0099 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1135-2345C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254813 | ||||||
| chr21:41254865
|
C | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2293C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254865 | ||||||
| chr21:41254866
|
G | T | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2292G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254866 | ||||||
| chr21:41254868
|
C | A | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2290C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254868 | ||||||
| chr21:41254877
|
T | C | 1 | a0001c0002t0001g0256 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1135-2281T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254877 | ||||||
| chr21:41254924
|
C | T | 90 | a0001c0001t0061g0098a0001c0002t0001g0025a0001c0002t0001g0028others(87): Show | 90 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(87): Show |
intron_variant | MODIFIER | c.1135-2234C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254924 | ||||||
| chr21:41254955
|
A | G | 203 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(200): Show | 203 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(200): Show |
intron_variant | MODIFIER | c.1135-2203A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254955 | ||||||
| chr21:41255293
|
G | C | 77 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(74): Show | 77 | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(74): Show |
intron_variant | MODIFIER | c.1135-1865G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255293 | ||||||
| chr21:41255389
|
G | A | 26 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(23): Show | 26 | HG00408.hp1 HG00741.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.1135-1769G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255389 | ||||||
| chr21:41255633
|
A | C | 1 | a0001c0001t0018g0022 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1135-1525A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255633 | ||||||
| chr21:41255687
|
A | G | 14 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(11): Show | 14 | HG01070.hp1 HG01106.hp2 HG01168.hp1 others(11): Show |
intron_variant | MODIFIER | c.1135-1471A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255687 | ||||||
| chr21:41255736
|
CT | C | 19 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0075others(16): Show | 19 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1135-1413delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41255736 | |||||
| chr21:41256042
|
G | A | 95 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(92): Show | 95 | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(92): Show |
intron_variant | MODIFIER | c.1135-1116G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256042 | ||||||
| chr21:41256084
|
G | GT | 32 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(29): Show | 32 | HG00738.hp2 HG00741.hp2 HG01175.hp2 others(29): Show |
intron_variant | MODIFIER | c.1135-1065dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41256084 | |||||
| chr21:41256084
|
GT | G | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-1065delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41256084 | |||||
| chr21:41256198
|
G | A | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1135-960G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256198 | ||||||
| chr21:41256285
|
G | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-873G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256285 | ||||||
| chr21:41256392
|
T | C | 1 | a0001c0001t0017g0270 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1135-766T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256392 | ||||||
| chr21:41256451
|
T | C | 3 | a0001c0001t0006g0169a0001c0001t0006g0171a0001c0006t0052g0263 | 3 | HG01256.hp2 HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1135-707T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256451 | ||||||
| chr21:41256919
|
T | C | 1 | a0001c0001t0008g0255 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1135-239T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256919 | ||||||
| chr21:41257041
|
G | T | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1135-117G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257041 | ||||||
| chr21:41257056
|
G | A | 6 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(3): Show | 6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-102G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257056 | ||||||
| chr21:41257148
|
C | T | 12 | a0001c0001t0005g0161a0001c0001t0005g0162a0001c0001t0005g0240others(9): Show | 12 | HG01167.hp2 HG01169.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1135-10C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257148 | ||||||
| chr21:41257725
|
C | T | 28 | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(25): Show | 28 | HG00280.hp2 HG01099.hp2 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.1303+399C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257725 | ||||||
| chr21:41257817
|
G | T | 28 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(25): Show | 28 | HG00738.hp2 HG01175.hp2 HG01256.hp1 others(25): Show |
intron_variant | MODIFIER | c.1303+491G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257817 | ||||||
| chr21:41257967
|
C | T | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1303+641C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257967 | ||||||
| chr21:41257968
|
A | G | 207 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(204): Show | 207 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
intron_variant | MODIFIER | c.1303+642A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257968 | ||||||
| chr21:41257992
|
G | A | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1303+666G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257992 | ||||||
| chr21:41258065
|
G | A | 1 | a0001c0001t0007g0271 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1303+739G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258065 | ||||||
| chr21:41258097
|
A | G | 2 | a0001c0001t0004g0218a0001c0001t0051g0132 | 2 | HG01934.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1303+771A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258097 | ||||||
| chr21:41258166
|
G | A | 187 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(184): Show | 187 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(184): Show |
intron_variant | MODIFIER | c.1303+840G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258166 | ||||||
| chr21:41258450
|
T | C | 8 | a0001c0001t0005g0005a0001c0001t0005g0008a0001c0001t0005g0024others(5): Show | 8 | HG02055.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1303+1124T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258450 | ||||||
| chr21:41258604
|
A | G | 197 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(194): Show | 197 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(194): Show |
intron_variant | MODIFIER | c.1303+1278A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258604 | ||||||
| chr21:41258674
|
T | G | 29 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(26): Show | 29 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.1303+1348T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258674 | ||||||
| chr21:41258677
|
A | AT | 177 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(174): Show | 177 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.1303+1351_1303+135 others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258677 | ||||||
| chr21:41258762
|
A | G | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+1436A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258762 | ||||||
| chr21:41258776
|
C | T | 3 | a0001c0001t0004g0018a0001c0001t0004g0129a0001c0001t0004g0218 | 3 | HG01074.hp2 HG01175.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.1303+1450C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258776 | ||||||
| chr21:41258787
|
G | A | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+1461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258787 | ||||||
| chr21:41258817
|
T | C | 1 | a0001c0001t0003g0013 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1303+1491T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258817 | ||||||
| chr21:41258830
|
G | GT | 4 | a0001c0001t0029g0145a0001c0001t0031g0239a0001c0001t0040g0084others(1): Show | 4 | HG01106.hp2 HG03139.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+1510dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41258830 | |||||
| chr21:41258981
|
T | G | 1 | a0001c0001t0001g0226 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1303+1655T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258981 | ||||||
| chr21:41259010
|
G | A | 5 | a0001c0001t0009g0229a0001c0001t0020g0150a0001c0001t0020g0266others(2): Show | 5 | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+1684G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259010 | ||||||
| chr21:41259216
|
C | G | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1303+1890C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259216 | ||||||
| chr21:41259248
|
T | C | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+1922T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259248 | ||||||
| chr21:41259322
|
G | A | 2 | a0001c0001t0040g0084a0001c0006t0052g0263 | 2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1303+1996G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259322 | ||||||
| chr21:41259354
|
A | G | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2028A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259354 | ||||||
| chr21:41259386
|
C | T | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+2060C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259386 | ||||||
| chr21:41259422
|
G | T | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2096G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259422 | ||||||
| chr21:41259441
|
C | CT | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2127dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259441 | |||||
| chr21:41259441
|
CT | C | 95 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(92): Show | 95 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(92): Show |
intron_variant | MODIFIER | c.1303+2127delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259441 | |||||
| chr21:41259802
|
CTTTT | C | 5 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2477_1303+248 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259802 | ||||||
| chr21:41259812
|
CT | C | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2494delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259812 | |||||
| chr21:41259877
|
G | C | 2 | a0001c0001t0040g0084a0001c0006t0052g0263 | 2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1303+2551G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259877 | ||||||
| chr21:41260041
|
G | T | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+2715G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260041 | ||||||
| chr21:41260085
|
C | T | 1 | a0001c0001t0021g0085 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1303+2759C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260085 | ||||||
| chr21:41260089
|
G | T | 1 | a0001c0001t0003g0015 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1303+2763G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260089 | ||||||
| chr21:41260274
|
A | G | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260274 | ||||||
| chr21:41260347
|
G | A | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1303+3021G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260347 | ||||||
| chr21:41260353
|
C | T | 13 | a0001c0001t0009g0229a0001c0001t0014g0003a0001c0001t0014g0177others(10): Show | 13 | HG01167.hp2 HG01169.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1303+3027C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260353 | ||||||
| chr21:41260449
|
T | C | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+3123T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260449 | ||||||
| chr21:41260491
|
G | A | 1 | a0001c0002t0001g0056 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1303+3165G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260491 | ||||||
| chr21:41260500
|
T | C | 5 | a0001c0001t0009g0229a0001c0001t0020g0150a0001c0001t0020g0266others(2): Show | 5 | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+3174T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260500 | ||||||
| chr21:41260658
|
C | T | 47 | a0001c0001t0005g0005a0001c0001t0005g0008a0001c0001t0005g0024others(44): Show | 47 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(44): Show |
intron_variant | MODIFIER | c.1303+3332C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260658 | ||||||
| chr21:41260749
|
G | A | 4 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+3423G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260749 | ||||||
| chr21:41260766
|
A | T | 1 | a0001c0001t0054g0170 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1303+3440A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260766 | ||||||
| chr21:41260793
|
C | T | 23 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(20): Show | 23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.1303+3467C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260793 | ||||||
| chr21:41260818
|
G | T | 1 | a0001c0002t0001g0190 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1303+3492G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260818 | ||||||
| chr21:41260843
|
G | A | 27 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(24): Show | 27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1303+3517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260843 | ||||||
| chr21:41260890
|
AT | A | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+3573delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41260890 | |||||
| chr21:41261111
|
C | T | 2 | a0001c0001t0029g0145a0001c0001t0031g0239 | 2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1303+3785C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261111 | ||||||
| chr21:41261138
|
A | G | 217 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(214): Show | 217 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(214): Show |
intron_variant | MODIFIER | c.1303+3812A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261138 | ||||||
| chr21:41261272
|
G | A | 3 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1303+3946G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261272 | ||||||
| chr21:41261274
|
A | G | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1303+3948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261274 | ||||||
| chr21:41261341
|
T | C | 28 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(25): Show | 28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1303+4015T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261341 | ||||||
| chr21:41261520
|
T | A | 1 | a0001c0002t0001g0045 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1303+4194T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261520 | ||||||
| chr21:41261763
|
T | A | 31 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(28): Show | 31 | HG00738.hp2 HG01106.hp2 HG01256.hp1 others(28): Show |
intron_variant | MODIFIER | c.1303+4437T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261763 | ||||||
| chr21:41262098
|
C | A | 1 | a0001c0001t0030g0208 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1303+4772C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262098 | ||||||
| chr21:41262229
|
G | A | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1303+4903G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262229 | ||||||
| chr21:41262267
|
A | G | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+4941A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262267 | ||||||
| chr21:41262339
|
T | C | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+5013T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262339 | ||||||
| chr21:41262414
|
C | A | 1 | a0001c0002t0001g0031 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1303+5088C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262414 | ||||||
| chr21:41262416
|
C | T | 1 | a0001c0001t0018g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1303+5090C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262416 | ||||||
| chr21:41262526
|
T | A | 1 | a0001c0001t0009g0229 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+5200T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262526 | ||||||
| chr21:41262738
|
T | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1303+5412T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262738 | ||||||
| chr21:41262770
|
G | T | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1303+5444G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262770 | ||||||
| chr21:41262831
|
T | C | 1 | a0001c0002t0001g0121 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1303+5505T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262831 | ||||||
| chr21:41262870
|
T | G | 1 | a0001c0001t0002g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1303+5544T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262870 | ||||||
| chr21:41262914
|
C | T | 49 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(46): Show | 49 | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(46): Show |
intron_variant | MODIFIER | c.1303+5588C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262914 | ||||||
| chr21:41262964
|
G | C | 60 | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0001g0226others(57): Show | 60 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.1303+5638G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262964 | ||||||
| chr21:41263195
|
T | C | 1 | a0001c0001t0027g0182 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1303+5869T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263195 | ||||||
| chr21:41263460
|
A | T | 2 | a0001c0002t0001g0025a0001c0002t0001g0046 | 2 | HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1303+6134A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263460 | ||||||
| chr21:41263740
|
T | A | 1 | a0001c0001t0004g0172 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1303+6414T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263740 | ||||||
| chr21:41263749
|
G | A | 78 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(75): Show | 78 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(75): Show |
intron_variant | MODIFIER | c.1303+6423G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263749 | ||||||
| chr21:41263841
|
G | A | 1 | a0001c0002t0001g0124 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1303+6515G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263841 | ||||||
| chr21:41263857
|
A | G | 1 | a0001c0002t0001g0131 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1303+6531A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263857 | ||||||
| chr21:41263874
|
A | G | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+6548A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263874 | ||||||
| chr21:41263940
|
C | G | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+6614C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263940 | ||||||
| chr21:41264535
|
T | C | 16 | a0001c0001t0013g0114a0001c0001t0032g0213a0001c0002t0001g0065others(13): Show | 16 | HG01081.hp2 HG01167.hp1 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.1303+7209T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264535 | ||||||
| chr21:41264574
|
C | T | 24 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(21): Show | 24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1303+7248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264574 | ||||||
| chr21:41264603
|
A | G | 2 | a0001c0001t0053g0076a0001c0001t0054g0170 | 2 | HG02922.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1303+7277A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264603 | ||||||
| chr21:41264768
|
G | C | 1 | a0001c0001t0015g0090 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1303+7442G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264768 | ||||||
| chr21:41264861
|
A | G | 1 | a0001c0001t0002g0148 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1303+7535A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264861 | ||||||
| chr21:41265173
|
C | CT | 27 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(24): Show | 27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1303+7861dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265173 | |||||
| chr21:41265173
|
CT | C | 54 | a0001c0001t0002g0066a0001c0001t0005g0005a0001c0001t0005g0008others(51): Show | 54 | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.1303+7861delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265173 | |||||
| chr21:41265192
|
C | T | 1 | a0001c0001t0017g0270 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1303+7866C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265192 | ||||||
| chr21:41265288
|
C | T | 49 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(46): Show | 49 | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(46): Show |
intron_variant | MODIFIER | c.1303+7962C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265288 | ||||||
| chr21:41265295
|
G | T | 31 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(28): Show | 31 | HG00738.hp2 HG01106.hp2 HG01256.hp1 others(28): Show |
intron_variant | MODIFIER | c.1303+7969G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265295 | ||||||
| chr21:41265410
|
G | A | 1 | a0001c0001t0004g0172 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1303+8084G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265410 | ||||||
| chr21:41265524
|
G | A | 1 | a0001c0001t0002g0049 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1303+8198G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265524 | ||||||
| chr21:41265665
|
A | T | 5 | a0001c0001t0012g0137a0001c0001t0012g0142a0001c0001t0012g0152others(2): Show | 5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+8339A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265665 | ||||||
| chr21:41265671
|
A | G | 1 | a0001c0001t0040g0084 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1303+8345A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265671 | ||||||
| chr21:41265793
|
T | C | 4 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+8467T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265793 | ||||||
| chr21:41265805
|
T | G | 1 | a0001c0001t0006g0107 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1303+8479T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265805 | ||||||
| chr21:41265999
|
C | CT | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1303+8681dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265999 | |||||
| chr21:41266104
|
C | T | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1303+8778C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266104 | ||||||
| chr21:41266153
|
CTTCT | C | 2 | a0001c0002t0025g0144a0001c0004t0025g0082 | 2 | NA18980.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1303+8833_1303+883 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266153 | |||||
| chr21:41266254
|
C | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1303+8928C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266254 | ||||||
| chr21:41266370
|
A | G | 4 | a0001c0001t0020g0150a0001c0001t0020g0266a0001c0001t0021g0027others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-9001A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266370 | ||||||
| chr21:41266758
|
G | A | 122 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(119): Show | 122 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(119): Show |
intron_variant | MODIFIER | c.1304-8613G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266758 | ||||||
| chr21:41266946
|
TTG | T | 65 | a0001c0001t0001g0120a0001c0001t0001g0173a0001c0001t0002g0007others(62): Show | 65 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(62): Show |
intron_variant | MODIFIER | c.1304-8391_1304-839 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | |||||
| chr21:41266946
|
TTGTG | T | 140 | a0001c0001t0001g0165a0001c0001t0001g0226a0001c0001t0001g0234others(137): Show | 140 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.1304-8393_1304-839 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | |||||
| chr21:41266946
|
TTGTGTG | T | 55 | a0001c0001t0005g0005a0001c0001t0005g0008a0001c0001t0005g0024others(52): Show | 55 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(52): Show |
intron_variant | MODIFIER | c.1304-8395_1304-839 others(10): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | |||||
| chr21:41266946
|
TTGTGTGT others(1): Show |
T | 4 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(1): Show | 4 | HG01167.hp2 HG01169.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-8397_1304-839 others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | |||||
| chr21:41267004
|
G | A | 28 | a0001c0001t0005g0005a0001c0001t0005g0008a0001c0001t0005g0024others(25): Show | 28 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-8367G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267004 | ||||||
| chr21:41267010
|
A | T | 2 | a0001c0002t0001g0025a0001c0002t0001g0046 | 2 | HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-8361A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267010 | ||||||
| chr21:41267048
|
G | T | 1 | a0001c0001t0012g0137 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1304-8323G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267048 | ||||||
| chr21:41267123
|
C | T | 9 | a0001c0001t0005g0030a0001c0001t0005g0058a0001c0001t0005g0140others(6): Show | 9 | HG02280.hp1 HG02723.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-8248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267123 | ||||||
| chr21:41267421
|
A | G | 2 | a0001c0001t0005g0147a0001c0003t0005g0051 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1304-7950A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267421 | ||||||
| chr21:41267771
|
C | T | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-7600C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267771 | ||||||
| chr21:41267903
|
C | T | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-7468C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267903 | ||||||
| chr21:41267904
|
G | A | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1304-7467G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267904 | ||||||
| chr21:41268095
|
G | T | 28 | a0001c0001t0001g0260a0001c0001t0003g0013a0001c0001t0003g0015others(25): Show | 28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-7276G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268095 | ||||||
| chr21:41268440
|
A | G | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-6931A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268440 | ||||||
| chr21:41268476
|
A | G | 1 | a0001c0002t0062g0014 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1304-6895A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268476 | ||||||
| chr21:41268483
|
G | A | 28 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(25): Show | 28 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-6888G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268483 | ||||||
| chr21:41268499
|
C | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-6872C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268499 | ||||||
| chr21:41268624
|
A | G | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-6747A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268624 | ||||||
| chr21:41268634
|
T | C | 1 | a0001c0001t0039g0004 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1304-6737T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268634 | ||||||
| chr21:41268740
|
C | A | 1 | a0001c0001t0054g0170 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1304-6631C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268740 | ||||||
| chr21:41268799
|
G | GT | 7 | a0001c0001t0002g0026a0001c0001t0002g0049a0001c0001t0003g0178others(4): Show | 7 | HG01361.hp2 HG01884.hp2 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-6565dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41268799 | |||||
| chr21:41268976
|
C | T | 29 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(26): Show | 29 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1304-6395C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268976 | ||||||
| chr21:41269475
|
T | C | 121 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(118): Show | 121 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(118): Show |
intron_variant | MODIFIER | c.1304-5896T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41269475 | ||||||
| chr21:41269986
|
A | T | 96 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(93): Show | 96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.1304-5385A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41269986 | ||||||
| chr21:41270054
|
T | C | 1 | a0001c0001t0040g0084 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1304-5317T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270054 | ||||||
| chr21:41270055
|
C | T | 91 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(88): Show | 91 | HG00738.hp2 HG00741.hp2 HG01070.hp2 others(88): Show |
intron_variant | MODIFIER | c.1304-5316C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270055 | ||||||
| chr21:41270111
|
A | G | 187 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(184): Show | 188 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.1304-5260A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270111 | ||||||
| chr21:41270169
|
A | G | 29 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(26): Show | 29 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.1304-5202A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270169 | ||||||
| chr21:41270395
|
C | T | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-4976C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270395 | ||||||
| chr21:41270420
|
T | TTA | 3 | a0001c0001t0007g0075a0001c0001t0011g0063a0001c0001t0037g0163 | 3 | HG02559.hp1 HG02896.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1304-4940_1304-493 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41270420 | |||||
| chr21:41270478
|
G | A | 5 | a0001c0001t0004g0018a0001c0001t0004g0023a0001c0001t0004g0129others(2): Show | 5 | HG01074.hp2 HG01175.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-4893G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270478 | ||||||
| chr21:41270528
|
T | C | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-4843T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270528 | ||||||
| chr21:41270554
|
T | C | 1 | a0001c0001t0029g0145 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1304-4817T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270554 | ||||||
| chr21:41270691
|
A | G | 1 | a0001c0001t0017g0270 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-4680A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270691 | ||||||
| chr21:41270715
|
A | G | 247 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(244): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.1304-4656A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270715 | ||||||
| chr21:41270753
|
T | C | 1 | a0001c0001t0003g0127 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1304-4618T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270753 | ||||||
| chr21:41270772
|
A | C | 96 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(93): Show | 96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.1304-4599A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270772 | ||||||
| chr21:41270807
|
T | C | 1 | a0001c0006t0052g0263 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1304-4564T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270807 | ||||||
| chr21:41270898
|
A | G | 27 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(24): Show | 27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1304-4473A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270898 | ||||||
| chr21:41270986
|
A | G | 2 | a0001c0001t0053g0076a0001c0001t0054g0170 | 2 | HG02922.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1304-4385A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270986 | ||||||
| chr21:41271098
|
T | C | 2 | a0001c0001t0001g0173a0001c0002t0001g0081 | 2 | HG02074.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.1304-4273T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271098 | ||||||
| chr21:41271224
|
T | TGGATCTT others(314): Show |
13 | a0001c0001t0007g0075a0001c0001t0007g0089a0001c0001t0007g0113others(10): Show | 13 | HG02451.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1304-4133_1304-413 others(325): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41271224 | |||||
| chr21:41271224
|
T | TGGATCTT others(314): Show |
6 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0078others(3): Show | 6 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-4133_1304-413 others(325): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41271224 | |||||
| chr21:41271410
|
A | G | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-3961A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271410 | ||||||
| chr21:41271441
|
G | A | 1 | a0001c0001t0054g0170 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1304-3930G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271441 | ||||||
| chr21:41271601
|
A | G | 2 | a0001c0001t0019g0009a0001c0001t0019g0211 | 2 | HG01109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1304-3770A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271601 | ||||||
| chr21:41271683
|
T | C | 29 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(26): Show | 29 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.1304-3688T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271683 | ||||||
| chr21:41271769
|
C | T | 7 | a0001c0002t0001g0139a0001c0002t0001g0151a0001c0002t0001g0209others(4): Show | 7 | HG01070.hp1 HG01168.hp1 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-3602C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271769 | ||||||
| chr21:41271802
|
A | G | 185 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(182): Show | 186 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(183): Show |
intron_variant | MODIFIER | c.1304-3569A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271802 | ||||||
| chr21:41271825
|
G | A | 1 | a0001c0001t0005g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1304-3546G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271825 | ||||||
| chr21:41271845
|
A | C | 247 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(244): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.1304-3526A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271845 | ||||||
| chr21:41271918
|
C | T | 58 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0026others(55): Show | 59 | HG00408.hp1 HG00408.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.1304-3453C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271918 | ||||||
| chr21:41272041
|
T | C | 247 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(244): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.1304-3330T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272041 | ||||||
| chr21:41272186
|
T | A | 1 | a0002c0005t0041g0138 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-3185T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272186 | ||||||
| chr21:41272277
|
C | T | 2 | a0001c0002t0001g0061a0001c0002t0001g0136 | 2 | NA18985.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.1304-3094C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272277 | ||||||
| chr21:41272291
|
A | G | 1 | a0001c0002t0001g0093 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1304-3080A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272291 | ||||||
| chr21:41272321
|
G | C | 1 | a0001c0002t0013g0198 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1304-3050G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272321 | ||||||
| chr21:41272525
|
G | A | 23 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(20): Show | 23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.1304-2846G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272525 | ||||||
| chr21:41272530
|
T | C | 1 | a0001c0001t0048g0130 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1304-2841T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272530 | ||||||
| chr21:41272588
|
G | A | 3 | a0001c0001t0004g0018a0001c0001t0004g0129a0001c0001t0004g0218 | 3 | HG01074.hp2 HG01175.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.1304-2783G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272588 | ||||||
| chr21:41272648
|
A | G | 1 | a0001c0001t0028g0079 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1304-2723A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272648 | ||||||
| chr21:41272656
|
C | T | 1 | a0001c0001t0005g0008 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1304-2715C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272656 | ||||||
| chr21:41272662
|
T | C | 1 | a0001c0001t0031g0239 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1304-2709T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272662 | ||||||
| chr21:41272708
|
C | T | 1 | a0001c0001t0017g0270 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-2663C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272708 | ||||||
| chr21:41272736
|
C | A | 30 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0026others(27): Show | 31 | HG00408.hp2 HG01069.hp2 HG01243.hp2 others(28): Show |
intron_variant | MODIFIER | c.1304-2635C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272736 | ||||||
| chr21:41272803
|
G | A | 2 | a0001c0001t0029g0145a0001c0001t0031g0239 | 2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1304-2568G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272803 | ||||||
| chr21:41272958
|
C | T | 28 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(25): Show | 28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-2413C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272958 | ||||||
| chr21:41273055
|
T | C | 29 | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0041others(26): Show | 29 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(26): Show |
intron_variant | MODIFIER | c.1304-2316T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273055 | ||||||
| chr21:41273204
|
G | A | 1 | a0001c0002t0001g0261 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1304-2167G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273204 | ||||||
| chr21:41273401
|
T | G | 1 | a0001c0002t0001g0131 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1304-1970T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273401 | ||||||
| chr21:41273810
|
T | C | 126 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(123): Show | 126 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.1304-1561T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273810 | ||||||
| chr21:41273921
|
C | T | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-1450C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273921 | ||||||
| chr21:41274011
|
G | A | 28 | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0023others(25): Show | 28 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-1360G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274011 | ||||||
| chr21:41274335
|
G | A | 2 | a0001c0001t0001g0260a0001c0001t0054g0170 | 2 | HG03471.hp1 NA18944.hp2 |
intron_variant | MODIFIER | c.1304-1036G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274335 | ||||||
| chr21:41274525
|
G | A | 18 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0075others(15): Show | 18 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1304-846G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274525 | ||||||
| chr21:41274543
|
T | C | 2 | a0001c0001t0040g0084a0001c0006t0052g0263 | 2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1304-828T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274543 | ||||||
| chr21:41274591
|
A | G | 246 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(243): Show | 247 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.1304-780A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274591 | ||||||
| chr21:41274802
|
G | A | 5 | a0001c0001t0005g0147a0001c0001t0005g0161a0001c0001t0005g0162others(2): Show | 5 | HG02280.hp1 HG02809.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-569G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274802 | ||||||
| chr21:41275007
|
C | T | 1 | a0001c0001t0051g0132 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-364C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275007 | ||||||
| chr21:41275041
|
C | T | 2 | a0001c0001t0029g0145a0001c0001t0031g0239 | 2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1304-330C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275041 | ||||||
| chr21:41275064
|
C | T | 5 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-307C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275064 | ||||||
| chr21:41275065
|
C | T | 245 | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0173others(242): Show | 246 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(243): Show |
intron_variant | MODIFIER | c.1304-306C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275065 | ||||||
| chr21:41275165
|
A | G | 5 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-206A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275165 | ||||||
| chr21:41275363
|
C | T | 6 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(3): Show | 6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.1304-8C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275363 |