Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5663 |
| ensemblid | ENSG00000080815.20 |
| hgncid | 9508 |
| symbol | PSEN1 |
| name | presenilin 1 |
| refseq_nuc | NM_000021.4 |
| refseq_prot | NP_000012.1 |
| ensembl_nuc | ENST00000324501.10 |
| ensembl_prot | ENSP00000326366.5 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 73136507 |
| end | 73223691 |
| strand | + |
| ver | v1.2 |
| region | chr14:73136507-73223691 |
| region5000 | chr14:73131507-73228691 |
| regionname0 | PSEN1_chr14_73136507_73223691 |
| regionname5000 | PSEN1_chr14_73131507_73228691 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 467 | 376 | 87 | 74 | 167 | 10 | 36 | 123 | PSEN1_chr14_73131507_73228691 | PSEN1 | MTELP others(462): Show |
chr14 | 73131507 | 73228691 |
| a0002 | 0/0 | 467 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | MTELP others(462): Show |
chr14 | 73131507 | 73228691 |
| a0003 | 0/0 | 467 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | MTELP others(462): Show |
chr14 | 73131507 | 73228691 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1401 | 372 | 85 | 74 | 165 | 10 | 36 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 | ||
| a0001c0002 | 0/0 | 1401 | 2 | 0 | 0 | 2 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 | ||
| a0001c0004 | 0/0 | 1401 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 | ||
| a0001c0006 | 0/0 | 1401 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 | ||
| a0002c0005 | 0/0 | 1401 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 | ||
| a0003c0003 | 0/0 | 1401 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | ATGAC others(1396): Show |
chr14 | 73131507 | 73228691 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6018 | 117 | 30 | 23 | 55 | 2 | 7 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0002 | 1/0 | 6018 | 66 | 12 | 21 | 23 | 4 | 5 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0003 | 0/0 | 6018 | 46 | 7 | 3 | 31 | 1 | 4 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0004 | 0/0 | 6018 | 36 | 9 | 12 | 6 | 1 | 8 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0005 | 0/0 | 6018 | 32 | 1 | 6 | 25 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0006 | 0/0 | 6018 | 15 | 0 | 1 | 11 | 0 | 3 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0007 | 0/0 | 6018 | 10 | 9 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0008 | 0/0 | 6018 | 6 | 0 | 1 | 1 | 2 | 2 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0009 | 0/1 | 6018 | 6 | 0 | 3 | 0 | 0 | 2 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0010 | 0/0 | 6018 | 5 | 0 | 0 | 5 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0011 | 0/0 | 6018 | 4 | 4 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0012 | 0/0 | 6006 | 4 | 0 | 0 | 4 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6001): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0013 | 0/0 | 6018 | 3 | 0 | 0 | 0 | 0 | 3 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0014 | 0/0 | 6018 | 2 | 0 | 0 | 2 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0015 | 0/0 | 6018 | 2 | 1 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0016 | 0/0 | 6018 | 2 | 2 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0017 | 0/0 | 6018 | 2 | 2 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0018 | 0/0 | 6018 | 2 | 0 | 0 | 0 | 0 | 2 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0019 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0021 | 0/0 | 5975 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(5970): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0022 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0023 | 0/0 | 6018 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0024 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0025 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0026 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0027 | 0/0 | 6018 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0028 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0029 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0030 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0001t0031 | 0/0 | 6018 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0002t0005 | 0/0 | 6018 | 2 | 0 | 0 | 2 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0004t0020 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0001c0006t0006 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0002c0005t0006 | 0/0 | 6018 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| a0003c0003t0003 | 0/0 | 6018 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | GGAAA others(6013): Show |
chr14 | 73131507 | 73228691 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0314 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0315 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0318 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0319 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0320 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0322 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0324 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0325 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0326 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0327 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0328 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0329 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0330 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0331 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0332 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0333 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0334 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0337 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0338 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0343 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0344 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0345 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0346 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0347 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0349 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0350 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0351 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0353 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0354 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0355 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0356 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0357 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0358 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0359 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0360 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0361 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0362 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0363 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0364 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0367 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0368 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0370 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0371 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0372 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0373 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0002g0374 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0297 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0298 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0003g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0239 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0291 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0295 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0004g0375 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0005g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0006g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0007g0369 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0008g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0196 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0009g0366 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0010g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0010g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0010g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0010g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0010g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0011g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0011g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0011g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0011g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0012g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0012g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0012g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0012g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0013g0335 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0013g0341 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0013g0352 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0014g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0014g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0015g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0015g0301 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0016g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0016g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0017g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0017g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0018g0336 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0018g0342 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0019g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0021g0348 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0022g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0023g0321 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0024g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0025g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0026g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0027g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0028g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0029g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0030g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0001t0031g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0002t0005g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0002t0005g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0004t0020g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0001c0006t0006g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0002c0005t0006g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| a0003c0003t0003g0365 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0330 | EUR | GBR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00099 | hp2 | a0001 | c0001 | t0004 | g0239 | EUR | GBR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0096 | EUR | GBR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00140 | hp2 | a0001 | c0001 | t0003 | g0297 | EUR | GBR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00323 | hp1 | a0001 | c0001 | t0002 | g0329 | EUR | FIN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00323 | hp2 | a0001 | c0001 | t0008 | g0105 | EUR | FIN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00408 | hp1 | a0001 | c0001 | t0006 | g0281 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00423 | hp1 | a0001 | c0001 | t0003 | g0222 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00423 | hp2 | a0001 | c0001 | t0005 | g0164 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00544 | hp1 | a0001 | c0001 | t0004 | g0237 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00544 | hp2 | a0001 | c0001 | t0006 | g0127 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0361 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00621 | hp1 | a0001 | c0002 | t0005 | g0117 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00621 | hp2 | a0001 | c0001 | t0005 | g0168 | EAS | CHS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00639 | hp1 | a0001 | c0001 | t0004 | g0253 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00639 | hp2 | a0001 | c0001 | t0003 | g0199 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00642 | hp1 | a0001 | c0001 | t0009 | g0216 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00733 | hp2 | a0001 | c0001 | t0002 | g0354 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0145 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0146 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00741 | hp1 | a0001 | c0001 | t0004 | g0235 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0331 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0319 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01069 | hp2 | a0001 | c0001 | t0005 | g0180 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01070 | hp1 | a0001 | c0001 | t0009 | g0197 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01070 | hp2 | a0001 | c0001 | t0004 | g0250 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01071 | hp1 | a0001 | c0001 | t0004 | g0252 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01071 | hp2 | a0001 | c0001 | t0005 | g0181 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01074 | hp1 | a0001 | c0001 | t0005 | g0002 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01074 | hp2 | a0001 | c0001 | t0027 | g0305 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01081 | hp1 | a0001 | c0001 | t0004 | g0240 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01081 | hp2 | a0001 | c0001 | t0015 | g0301 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01099 | hp1 | a0001 | c0001 | t0021 | g0348 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01099 | hp2 | a0001 | c0001 | t0005 | g0002 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01106 | hp1 | a0001 | c0001 | t0002 | g0323 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0324 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01169 | hp2 | a0001 | c0001 | t0004 | g0006 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0327 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01192 | hp1 | a0001 | c0001 | t0009 | g0224 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0347 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0109 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01243 | hp2 | a0001 | c0001 | t0007 | g0155 | AMR | PUR | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0326 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01257 | hp1 | a0001 | c0001 | t0002 | g0325 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01261 | hp1 | a0001 | c0001 | t0005 | g0101 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01261 | hp2 | a0001 | c0001 | t0008 | g0190 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0344 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01346 | hp2 | a0001 | c0001 | t0003 | g0198 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0042 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01358 | hp2 | a0001 | c0001 | t0002 | g0140 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0318 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01361 | hp2 | a0001 | c0001 | t0004 | g0254 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01433 | hp2 | a0001 | c0001 | t0003 | g0298 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01496 | hp2 | a0001 | c0001 | t0002 | g0269 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0056 | EUR | IBS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0351 | EUR | IBS | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0279 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01884 | hp2 | a0001 | c0001 | t0016 | g0266 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0368 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0249 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01928 | hp1 | a0001 | c0001 | t0004 | g0238 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0057 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01934 | hp2 | a0001 | c0001 | t0002 | g0343 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01943 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0072 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01952 | hp2 | a0001 | c0001 | t0004 | g0263 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01975 | hp1 | a0001 | c0001 | t0006 | g0272 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0066 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0355 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02004 | hp2 | a0001 | c0001 | t0004 | g0005 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02015 | hp1 | a0001 | c0001 | t0003 | g0220 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02015 | hp2 | a0001 | c0001 | t0002 | g0356 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02027 | hp1 | a0001 | c0001 | t0005 | g0173 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02040 | hp1 | a0001 | c0001 | t0031 | g0221 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02040 | hp2 | a0001 | c0001 | t0004 | g0242 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02055 | hp1 | a0001 | c0001 | t0022 | g0143 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02055 | hp2 | a0001 | c0001 | t0007 | g0284 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02056 | hp1 | a0001 | c0001 | t0006 | g0276 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0358 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0207 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0364 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02083 | hp1 | a0001 | c0001 | t0003 | g0206 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02129 | hp1 | a0001 | c0001 | t0003 | g0126 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02132 | hp2 | a0001 | c0001 | t0004 | g0236 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0362 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02135 | hp2 | a0001 | c0001 | t0005 | g0165 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0260 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02145 | hp2 | a0001 | c0001 | t0015 | g0300 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02148 | hp1 | a0001 | c0001 | t0005 | g0120 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0346 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02155 | hp1 | a0001 | c0001 | t0003 | g0123 | EAS | CDX | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | CDX | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0337 | EAS | CDX | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02165 | hp2 | a0001 | c0001 | t0005 | g0163 | EAS | CDX | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02257 | hp1 | a0001 | c0001 | t0024 | g0241 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02257 | hp2 | a0001 | c0001 | t0030 | g0167 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0104 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0131 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02280 | hp2 | a0001 | c0001 | t0003 | g0213 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0333 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02293 | hp2 | a0001 | c0001 | t0004 | g0251 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0050 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0334 | AMR | PEL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02451 | hp1 | a0001 | c0001 | t0007 | g0153 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0148 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02523 | hp1 | a0001 | c0001 | t0005 | g0264 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | KHV | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0071 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02602 | hp2 | a0001 | c0001 | t0003 | g0228 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0138 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02615 | hp2 | a0001 | c0001 | t0026 | g0286 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02622 | hp1 | a0001 | c0001 | t0005 | g0188 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02622 | hp2 | a0001 | c0001 | t0004 | g0115 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02630 | hp1 | a0001 | c0001 | t0007 | g0289 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02630 | hp2 | a0001 | c0001 | t0003 | g0225 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02647 | hp1 | a0001 | c0001 | t0003 | g0304 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02683 | hp1 | a0001 | c0001 | t0018 | g0336 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0084 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02698 | hp1 | a0001 | c0001 | t0003 | g0217 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02698 | hp2 | a0001 | c0001 | t0018 | g0342 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02717 | hp1 | a0001 | c0001 | t0007 | g0369 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02723 | hp1 | a0001 | c0001 | t0007 | g0154 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02723 | hp2 | a0001 | c0001 | t0017 | g0194 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02735 | hp2 | a0001 | c0001 | t0008 | g0106 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02738 | hp1 | a0001 | c0001 | t0006 | g0270 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0314 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02809 | hp1 | a0001 | c0001 | t0002 | g0258 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02809 | hp2 | a0001 | c0001 | t0011 | g0307 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02818 | hp1 | a0001 | c0001 | t0028 | g0292 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0259 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0255 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0231 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0103 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02922 | hp1 | a0001 | c0001 | t0007 | g0288 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02922 | hp2 | a0001 | c0001 | t0004 | g0293 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02976 | hp1 | a0001 | c0001 | t0004 | g0100 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02976 | hp2 | a0001 | c0001 | t0004 | g0303 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0144 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0028 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03098 | hp1 | a0001 | c0001 | t0029 | g0132 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03098 | hp2 | a0001 | c0001 | t0016 | g0278 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0302 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03130 | hp2 | a0001 | c0001 | t0007 | g0285 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03139 | hp1 | a0001 | c0001 | t0003 | g0312 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0248 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03195 | hp1 | a0001 | c0001 | t0003 | g0150 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03453 | hp1 | a0001 | c0001 | t0004 | g0290 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03453 | hp2 | a0001 | c0001 | t0017 | g0267 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03486 | hp1 | a0001 | c0001 | t0004 | g0142 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0261 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03491 | hp1 | a0001 | c0001 | t0009 | g0200 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03491 | hp2 | a0001 | c0001 | t0013 | g0352 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03492 | hp1 | a0001 | c0001 | t0013 | g0341 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03492 | hp2 | a0001 | c0001 | t0003 | g0299 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | ESN | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03540 | hp1 | a0001 | c0001 | t0004 | g0291 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03540 | hp2 | a0001 | c0001 | t0002 | g0257 | AFR | GWD | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0262 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03579 | hp2 | a0001 | c0006 | t0006 | g0152 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03654 | hp1 | a0001 | c0001 | t0004 | g0247 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03654 | hp2 | a0001 | c0001 | t0013 | g0335 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03688 | hp1 | a0001 | c0001 | t0009 | g0366 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03688 | hp2 | a0001 | c0001 | t0004 | g0294 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0349 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03704 | hp2 | a0001 | c0001 | t0006 | g0256 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03710 | hp2 | a0001 | c0001 | t0004 | g0234 | SAS | PJL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03831 | hp1 | a0001 | c0001 | t0008 | g0191 | SAS | BEB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03831 | hp2 | a0001 | c0001 | t0004 | g0295 | SAS | BEB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03942 | hp1 | a0001 | c0001 | t0006 | g0139 | SAS | BEB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03942 | hp2 | a0001 | c0001 | t0004 | g0296 | SAS | BEB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04115 | hp1 | a0001 | c0001 | t0003 | g0125 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04115 | hp2 | a0001 | c0001 | t0004 | g0119 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04199 | hp2 | a0001 | c0001 | t0004 | g0233 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0081 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04204 | hp2 | a0001 | c0001 | t0004 | g0246 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0322 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0102 | SAS | STU | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18522 | hp1 | a0001 | c0001 | t0002 | g0265 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18522 | hp2 | a0001 | c0001 | t0007 | g0287 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | CHB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18612 | hp2 | a0001 | c0001 | t0005 | g0189 | EAS | CHB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18747 | hp1 | a0001 | c0001 | t0003 | g0208 | EAS | CHB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18747 | hp2 | a0001 | c0001 | t0006 | g0282 | EAS | CHB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0114 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18906 | hp2 | a0001 | c0001 | t0011 | g0308 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18939 | hp2 | a0001 | c0001 | t0003 | g0223 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18941 | hp1 | a0001 | c0001 | t0003 | g0203 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18941 | hp2 | a0001 | c0001 | t0005 | g0157 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18942 | hp1 | a0001 | c0002 | t0005 | g0118 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0345 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18944 | hp1 | a0001 | c0001 | t0008 | g0121 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18944 | hp2 | a0001 | c0001 | t0010 | g0061 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18946 | hp2 | a0001 | c0001 | t0003 | g0214 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18947 | hp1 | a0001 | c0001 | t0005 | g0186 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18947 | hp2 | a0001 | c0001 | t0006 | g0271 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18948 | hp1 | a0001 | c0001 | t0006 | g0147 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0360 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18950 | hp2 | a0001 | c0001 | t0005 | g0160 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0317 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18952 | hp2 | a0001 | c0001 | t0005 | g0162 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0210 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18953 | hp2 | a0001 | c0001 | t0005 | g0179 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18954 | hp1 | a0001 | c0001 | t0003 | g0124 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18959 | hp2 | a0001 | c0001 | t0005 | g0171 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18960 | hp1 | a0001 | c0001 | t0005 | g0161 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18960 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18962 | hp2 | a0001 | c0001 | t0003 | g0195 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18963 | hp2 | a0001 | c0001 | t0002 | g0350 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18964 | hp1 | a0001 | c0001 | t0012 | g0178 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18965 | hp1 | a0001 | c0001 | t0006 | g0280 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18969 | hp1 | a0001 | c0001 | t0003 | g0212 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18969 | hp2 | a0001 | c0001 | t0023 | g0321 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18971 | hp1 | a0001 | c0001 | t0002 | g0371 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18971 | hp2 | a0001 | c0001 | t0010 | g0075 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0316 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18974 | hp1 | a0001 | c0001 | t0014 | g0176 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18974 | hp2 | a0001 | c0001 | t0006 | g0275 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0372 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18980 | hp2 | a0001 | c0001 | t0012 | g0177 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18984 | hp2 | a0001 | c0001 | t0005 | g0159 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18986 | hp2 | a0001 | c0001 | t0012 | g0183 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0373 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18988 | hp2 | a0001 | c0001 | t0003 | g0226 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18989 | hp1 | a0001 | c0001 | t0003 | g0205 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18990 | hp2 | a0001 | c0001 | t0002 | g0338 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18991 | hp1 | a0001 | c0001 | t0003 | g0229 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18991 | hp2 | a0001 | c0001 | t0010 | g0052 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18992 | hp2 | a0002 | c0005 | t0006 | g0273 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18994 | hp1 | a0001 | c0001 | t0005 | g0166 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0184 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18998 | hp2 | a0001 | c0001 | t0005 | g0339 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18999 | hp1 | a0001 | c0001 | t0010 | g0093 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18999 | hp2 | a0001 | c0001 | t0003 | g0215 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0359 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19003 | hp2 | a0001 | c0001 | t0002 | g0340 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0204 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19005 | hp1 | a0001 | c0001 | t0003 | g0193 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19005 | hp2 | a0001 | c0001 | t0002 | g0374 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19007 | hp2 | a0001 | c0001 | t0003 | g0227 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19009 | hp1 | a0001 | c0001 | t0003 | g0209 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19009 | hp2 | a0001 | c0001 | t0010 | g0089 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19011 | hp1 | a0001 | c0001 | t0002 | g0332 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19012 | hp1 | a0001 | c0001 | t0004 | g0243 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19012 | hp2 | a0001 | c0001 | t0003 | g0202 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19030 | hp1 | a0001 | c0001 | t0011 | g0309 | AFR | LWK | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19030 | hp2 | a0001 | c0004 | t0020 | g0311 | AFR | LWK | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19056 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19056 | hp2 | a0001 | c0001 | t0005 | g0174 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19060 | hp1 | a0001 | c0001 | t0003 | g0201 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19062 | hp1 | a0001 | c0001 | t0002 | g0370 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19062 | hp2 | a0001 | c0001 | t0004 | g0244 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19063 | hp1 | a0001 | c0001 | t0006 | g0277 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19063 | hp2 | a0001 | c0001 | t0005 | g0185 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19064 | hp2 | a0001 | c0001 | t0012 | g0187 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19066 | hp2 | a0001 | c0001 | t0003 | g0122 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19067 | hp2 | a0001 | c0001 | t0005 | g0172 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19068 | hp1 | a0001 | c0001 | t0002 | g0357 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19070 | hp2 | a0001 | c0001 | t0005 | g0169 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19072 | hp1 | a0001 | c0001 | t0005 | g0158 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19072 | hp2 | a0001 | c0001 | t0006 | g0283 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19074 | hp2 | a0001 | c0001 | t0003 | g0211 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19077 | hp2 | a0001 | c0001 | t0005 | g0116 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19082 | hp2 | a0001 | c0001 | t0003 | g0219 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19084 | hp1 | a0001 | c0001 | t0004 | g0245 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19084 | hp2 | a0001 | c0001 | t0006 | g0274 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19085 | hp1 | a0001 | c0001 | t0005 | g0175 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19086 | hp2 | a0001 | c0001 | t0002 | g0363 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19087 | hp2 | a0001 | c0001 | t0003 | g0107 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19091 | hp2 | a0001 | c0001 | t0005 | g0182 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0232 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA19240 | hp2 | a0001 | c0001 | t0004 | g0375 | AFR | YRI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0353 | AFR | ASW | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ASW | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0328 | EUR | TSI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20805 | hp2 | a0001 | c0001 | t0008 | g0192 | EUR | TSI | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01123 | hp1 | a0001 | c0001 | t0002 | g0315 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0051 | AMR | CLM | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02109 | hp1 | a0001 | c0001 | t0003 | g0313 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0130 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02486 | hp1 | a0001 | c0001 | t0019 | g0310 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02486 | hp2 | a0001 | c0001 | t0007 | g0156 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0110 | AFR | ACB | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0141 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG03471 | hp2 | a0001 | c0001 | t0011 | g0306 | AFR | MSL | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | USA | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| HG06807 | hp2 | a0001 | c0001 | t0025 | g0268 | AFR | USA | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18955 | hp1 | a0001 | c0001 | t0003 | g0218 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA18955 | hp2 | a0001 | c0001 | t0014 | g0170 | EAS | JPT | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20300 | hp1 | a0001 | c0001 | t0004 | g0007 | AFR | USA | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0367 | AFR | USA | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | LWK | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| NA21309 | hp2 | a0003 | c0003 | t0003 | g0365 | AFR | LWK | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0009 | g0196 | REF | REF | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0320 | REF | REF | PSEN1_chr14_73131507_73228691 | PSEN1 | chr14 | 73131507 | 73228691 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:73198103 | C | T | 1 | a0002 | 1 | NA18992.hp2 | missense_variant | MODERATE | c.842C>T | p.Thr281Met | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/12 | 1054/6018 | 842/1404 | 281/467 | chr14 | 73198103 | |||
| chr14:73211803 | G | C | 1 | a0003 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.990G>C | p.Glu330Asp | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/12 | 1202/6018 | 990/1404 | 330/467 | chr14 | 73211803 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:73170847 | C | T | 1 | a0001c0002 | 2 | HG00621.hp1 NA18942.hp1 |
synonymous_variant | LOW | c.138C>T | p.His46His | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/12 | 350/6018 | 138/1404 | 46/467 | chr14 | 73170847 | |||
| chr14:73171030 | C | G | 1 | a0001c0006 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.321C>G | p.Thr107Thr | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/12 | 533/6018 | 321/1404 | 107/467 | chr14 | 73171030 | |||
| chr14:73211815 | C | T | 1 | a0001c0004 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.1002C>T | p.Gly334Gly | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/12 | 1214/6018 | 1002/1404 | 334/467 | chr14 | 73211815 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:73219519 | G | T | 1 | a0001c0001t0018 | 2 | HG02683.hp1 HG02698.hp2 |
3_prime_UTR_variant | MODIFIER | c.*230G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 230 | chr14 | 73219519 | ||||||
| chr14:73219602 | C | A | 3 | a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 |
11 | HG00323.hp2 HG01261.hp2 HG02486.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*313C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 313 | chr14 | 73219602 | ||||||
| chr14:73219653 | T | C | 1 | a0001c0001t0009 | 5 | HG00642.hp1 HG01070.hp1 HG01192.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*364T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 364 | chr14 | 73219653 | ||||||
| chr14:73219785 | G | A | 1 | a0001c0004t0020 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*496G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 496 | chr14 | 73219785 | ||||||
| chr14:73219960 | C | T | 1 | a0001c0001t0031 | 1 | HG02040.hp1 | 3_prime_UTR_variant | MODIFIER | c.*671C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 671 | chr14 | 73219960 | ||||||
| chr14:73220236 | G | A | 4 | a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 others(1): Show |
53 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(50): Show |
3_prime_UTR_variant | MODIFIER | c.*947G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 947 | chr14 | 73220236 | ||||||
| chr14:73220306 | GTGCTGTC others(5): Show |
G | 1 | a0001c0001t0012 | 4 | NA18964.hp1 NA18980.hp2 NA18986.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1027_*1038delCCCT others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1027 | INFO_REALIGN_3_PRIME | chr14 | 73220306 | |||||
| chr14:73220436 | C | T | 25 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show |
263 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(260): Show |
3_prime_UTR_variant | MODIFIER | c.*1147C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1147 | chr14 | 73220436 | ||||||
| chr14:73220670 | G | A | 2 | a0001c0001t0024 a0001c0001t0025 |
2 | HG02257.hp1 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1381G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1381 | chr14 | 73220670 | ||||||
| chr14:73220773 | A | C | 1 | a0001c0001t0023 | 1 | NA18969.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1484A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1484 | chr14 | 73220773 | ||||||
| chr14:73220821 | C | T | 1 | a0001c0004t0020 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1532C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1532 | chr14 | 73220821 | ||||||
| chr14:73220886 | ACAGAGAG others(36): Show |
A | 1 | a0001c0001t0021 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1598_*1640delCAGA others(39): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1598 | chr14 | 73220886 | ||||||
| chr14:73220979 | T | C | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1690T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1690 | chr14 | 73220979 | ||||||
| chr14:73221080 | A | T | 1 | a0001c0001t0030 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1791A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1791 | chr14 | 73221080 | ||||||
| chr14:73221397 | G | A | 1 | a0001c0001t0022 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2108G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2108 | chr14 | 73221397 | ||||||
| chr14:73221685 | G | A | 1 | a0001c0001t0027 | 1 | HG01074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2396G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2396 | chr14 | 73221685 | ||||||
| chr14:73221719 | T | C | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*2430T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2430 | chr14 | 73221719 | ||||||
| chr14:73221733 | C | T | 1 | a0001c0001t0019 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2444C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2444 | chr14 | 73221733 | ||||||
| chr14:73221832 | C | T | 1 | a0001c0001t0010 | 5 | NA18944.hp2 NA18971.hp2 NA18991.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2543C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2543 | chr14 | 73221832 | ||||||
| chr14:73221922 | G | C | 1 | a0001c0001t0028 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2633G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2633 | chr14 | 73221922 | ||||||
| chr14:73222153 | A | C | 4 | a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 others(1): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*2864A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 2864 | chr14 | 73222153 | ||||||
| chr14:73222647 | A | G | 2 | a0001c0001t0017 a0001c0001t0027 |
3 | HG01074.hp2 HG02723.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3358A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3358 | chr14 | 73222647 | ||||||
| chr14:73222649 | A | G | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3360A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3360 | chr14 | 73222649 | ||||||
| chr14:73222669 | T | C | 1 | a0001c0001t0014 | 2 | NA18955.hp2 NA18974.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3380T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3380 | chr14 | 73222669 | ||||||
| chr14:73222684 | T | C | 1 | a0001c0001t0024 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3395T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3395 | chr14 | 73222684 | ||||||
| chr14:73222814 | A | G | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3525A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3525 | chr14 | 73222814 | ||||||
| chr14:73222827 | C | G | 2 | a0001c0001t0016 a0001c0001t0025 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3538C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3538 | chr14 | 73222827 | ||||||
| chr14:73222855 | A | G | 2 | a0001c0001t0017 a0001c0001t0027 |
3 | HG01074.hp2 HG02723.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3566A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3566 | chr14 | 73222855 | ||||||
| chr14:73222921 | G | A | 6 | a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(3): Show |
23 | HG00323.hp2 HG01243.hp2 HG01261.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*3632G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3632 | chr14 | 73222921 | ||||||
| chr14:73222926 | C | T | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3637C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3637 | chr14 | 73222926 | ||||||
| chr14:73223011 | C | T | 2 | a0001c0001t0001 a0001c0001t0010 |
122 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(119): Show |
3_prime_UTR_variant | MODIFIER | c.*3722C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3722 | chr14 | 73223011 | ||||||
| chr14:73223112 | G | A | 2 | a0001c0001t0007 a0001c0001t0026 |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3823G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3823 | chr14 | 73223112 | ||||||
| chr14:73223120 | C | T | 1 | a0001c0001t0015 | 2 | HG01081.hp2 HG02145.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3831C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3831 | chr14 | 73223120 | ||||||
| chr14:73223121 | G | A | 1 | a0001c0001t0027 | 1 | HG01074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3832G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3832 | chr14 | 73223121 | ||||||
| chr14:73223178 | G | A | 2 | a0001c0001t0011 a0001c0001t0019 |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3889G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3889 | chr14 | 73223178 | ||||||
| chr14:73223230 | C | A | 1 | a0001c0004t0020 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3941C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 3941 | chr14 | 73223230 | ||||||
| chr14:73223319 | A | G | 2 | a0001c0001t0013 a0001c0001t0018 |
5 | HG02683.hp1 HG02698.hp2 HG03491.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4030A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 4030 | chr14 | 73223319 | ||||||
| chr14:73223436 | T | G | 4 | a0001c0001t0006 a0001c0001t0015 a0001c0006t0006 others(1): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*4147T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 4147 | chr14 | 73223436 | ||||||
| chr14:73223630 | A | G | 1 | a0001c0001t0029 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4341A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 4341 | chr14 | 73223630 | ||||||
| chr14:73223662 | T | C | 1 | a0001c0001t0026 | 1 | HG02615.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4373T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 4373 | chr14 | 73223662 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:73136715 | G | A | 4 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(1): Show |
4 | HG01169.hp2 HG01943.hp2 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.-136+132G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73136715 | |||||||
| chr14:73136745 | C | T | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-136+162C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73136745 | |||||||
| chr14:73136878 | C | G | 5 | a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 others(2): Show |
5 | NA18971.hp1 NA18975.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.-136+295C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73136878 | |||||||
| chr14:73136928 | C | T | 1 | a0001c0001t0007g0369 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-136+345C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73136928 | |||||||
| chr14:73136992 | G | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
92 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.-136+409G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73136992 | |||||||
| chr14:73137265 | C | G | 1 | a0001c0001t0002g0368 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-136+682C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137265 | |||||||
| chr14:73137324 | A | G | 1 | a0001c0001t0002g0367 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-136+741A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137324 | |||||||
| chr14:73137533 | G | T | 1 | a0001c0001t0009g0366 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-136+950G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137533 | |||||||
| chr14:73137784 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-136+1201A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137784 | |||||||
| chr14:73137870 | G | C | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.-136+1287G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137870 | |||||||
| chr14:73137904 | C | T | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-136+1321C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73137904 | |||||||
| chr14:73138069 | C | CA | 13 | a0001c0001t0001g0008 a0001c0001t0001g0098 a0001c0001t0001g0099 others(10): Show |
13 | HG00323.hp2 HG01123.hp1 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.-136+1500dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138069 | ||||||
| chr14:73138069 | CA | C | 12 | a0001c0001t0001g0097 a0001c0001t0003g0302 a0001c0001t0003g0304 others(9): Show |
12 | HG01074.hp2 HG02486.hp1 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.-136+1500delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138069 | ||||||
| chr14:73138159 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-136+1576A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138159 | |||||||
| chr14:73138159 | A | T | 2 | a0001c0001t0015g0300 a0001c0001t0015g0301 |
2 | HG01081.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.-136+1576A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138159 | |||||||
| chr14:73138161 | C | T | 3 | a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 |
3 | HG00140.hp2 HG01433.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.-136+1578C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138161 | |||||||
| chr14:73138191 | A | ATTAT | 14 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0098 others(11): Show |
14 | HG01243.hp1 HG02559.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.-136+1647_-136+165 others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138191 | ||||||
| chr14:73138191 | ATTAT | A | 228 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(225): Show |
230 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(227): Show |
intron_variant | MODIFIER | c.-136+1647_-136+165 others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138191 | ||||||
| chr14:73138191 | ATTATTTA others(1): Show |
A | 25 | a0001c0001t0001g0094 a0001c0001t0002g0265 a0001c0001t0002g0269 others(22): Show |
25 | HG00408.hp1 HG01074.hp2 HG01496.hp2 others(22): Show |
intron_variant | MODIFIER | c.-136+1643_-136+165 others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138191 | ||||||
| chr14:73138191 | ATTATTTA others(5): Show |
A | 14 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(11): Show |
14 | HG02055.hp2 HG02486.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.-136+1639_-136+165 others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138191 | ||||||
| chr14:73138191 | ATTATTTA others(9): Show |
A | 5 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0004g0294 others(2): Show |
5 | HG00140.hp1 HG01496.hp1 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.-136+1635_-136+165 others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138191 | ||||||
| chr14:73138380 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-136+1797G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138380 | |||||||
| chr14:73138385 | A | AT | 9 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0148 others(6): Show |
9 | HG02258.hp1 HG02258.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.-136+1809dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138385 | ||||||
| chr14:73138402 | G | T | 1 | a0001c0001t0001g0092 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-136+1819G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138402 | |||||||
| chr14:73138405 | G | A | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-136+1822G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138405 | |||||||
| chr14:73138407 | C | G | 1 | a0001c0001t0005g0264 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-136+1824C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138407 | |||||||
| chr14:73138452 | C | T | 1 | a0001c0001t0004g0263 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-136+1869C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138452 | |||||||
| chr14:73138597 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+2014C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138597 | |||||||
| chr14:73138696 | C | T | 9 | a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 others(6): Show |
9 | HG00558.hp2 HG02015.hp2 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.-136+2113C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138696 | |||||||
| chr14:73138709 | C | T | 3 | a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 |
3 | HG00408.hp1 NA18747.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.-136+2126C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138709 | |||||||
| chr14:73138787 | A | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.-136+2204A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138787 | |||||||
| chr14:73138795 | T | C | 2 | a0001c0001t0004g0100 a0001c0001t0004g0115 |
2 | HG02622.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-136+2212T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138795 | |||||||
| chr14:73138804 | C | CA | 19 | a0001c0001t0002g0318 a0001c0001t0002g0367 a0001c0001t0004g0119 others(16): Show |
19 | HG00423.hp2 HG00621.hp1 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.-136+2234dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73138804 | ||||||
| chr14:73138823 | C | A | 39 | a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0101 others(36): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.-136+2240C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138823 | |||||||
| chr14:73138825 | G | A | 1 | a0001c0001t0002g0265 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-136+2242G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138825 | |||||||
| chr14:73138915 | G | A | 1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-136+2332G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138915 | |||||||
| chr14:73138972 | A | G | 1 | a0001c0001t0001g0091 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-136+2389A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138972 | |||||||
| chr14:73138975 | G | A | 25 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(22): Show |
25 | HG00323.hp2 HG01074.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.-136+2392G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73138975 | |||||||
| chr14:73139080 | G | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+2497G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139080 | |||||||
| chr14:73139082 | G | A | 2 | a0001c0001t0008g0105 a0001c0001t0008g0106 |
2 | HG00323.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.-136+2499G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139082 | |||||||
| chr14:73139117 | A | T | 1 | a0001c0001t0007g0284 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-136+2534A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139117 | |||||||
| chr14:73139123 | A | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+2540A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139123 | |||||||
| chr14:73139124 | G | A | 6 | a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 others(3): Show |
6 | HG00099.hp1 HG00323.hp1 HG00741.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+2541G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139124 | |||||||
| chr14:73139192 | A | T | 4 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(1): Show |
4 | HG01891.hp1 HG02145.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-136+2609A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139192 | |||||||
| chr14:73139203 | A | G | 1 | a0001c0001t0007g0284 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-136+2620A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139203 | |||||||
| chr14:73139287 | T | A | 7 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(4): Show |
7 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.-136+2704T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139287 | |||||||
| chr14:73139288 | T | A | 15 | a0001c0001t0003g0193 a0001c0001t0003g0297 a0001c0001t0003g0298 others(12): Show |
15 | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(12): Show |
intron_variant | MODIFIER | c.-136+2705T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139288 | |||||||
| chr14:73139327 | G | A | 1 | a0001c0001t0017g0194 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-136+2744G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139327 | |||||||
| chr14:73139378 | G | A | 47 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(44): Show |
48 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.-136+2795G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139378 | |||||||
| chr14:73139529 | G | A | 1 | a0001c0001t0006g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-136+2946G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139529 | |||||||
| chr14:73139567 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-136+2984G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139567 | |||||||
| chr14:73139591 | A | G | 1 | a0001c0001t0005g0189 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-136+3008A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139591 | |||||||
| chr14:73139890 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-136+3307G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73139890 | |||||||
| chr14:73140063 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+3480A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140063 | |||||||
| chr14:73140140 | C | T | 1 | a0001c0001t0003g0126 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-136+3557C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140140 | |||||||
| chr14:73140202 | C | CT | 21 | a0001c0001t0002g0265 a0001c0001t0002g0314 a0001c0001t0002g0315 others(18): Show |
21 | HG00423.hp2 HG00544.hp2 HG00733.hp2 others(18): Show |
intron_variant | MODIFIER | c.-136+3645dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140202 | ||||||
| chr14:73140202 | C | CTT | 6 | a0001c0001t0002g0318 a0001c0001t0008g0105 a0001c0001t0008g0106 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.-136+3644_-136+364 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140202 | ||||||
| chr14:73140202 | CT | C | 191 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(188): Show |
193 | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(190): Show |
intron_variant | MODIFIER | c.-136+3645delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140202 | ||||||
| chr14:73140202 | CTT | C | 7 | a0001c0001t0001g0040 a0001c0001t0003g0195 a0001c0001t0011g0306 others(4): Show |
7 | HG01074.hp2 HG02155.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.-136+3644_-136+364 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140202 | ||||||
| chr14:73140202 | CTTTTTTT others(5): Show |
C | 2 | a0001c0001t0002g0316 a0001c0001t0002g0317 |
2 | NA18951.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.-136+3634_-136+364 others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140202 | ||||||
| chr14:73140296 | C | T | 1 | a0001c0001t0002g0325 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-136+3713C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140296 | |||||||
| chr14:73140332 | TC | T | 3 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0151 |
3 | HG02258.hp1 HG02258.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-136+3752delC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73140332 | ||||||
| chr14:73140662 | A | G | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-136+4079A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140662 | |||||||
| chr14:73140739 | C | T | 1 | a0001c0001t0001g0035 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.-136+4156C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140739 | |||||||
| chr14:73140780 | G | A | 2 | a0001c0001t0008g0190 a0001c0001t0008g0191 |
2 | HG01261.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-136+4197G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140780 | |||||||
| chr14:73140897 | G | T | 1 | a0001c0001t0006g0147 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.-136+4314G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140897 | |||||||
| chr14:73140921 | G | C | 8 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.-136+4338G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73140921 | |||||||
| chr14:73141035 | G | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-136+4452G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141035 | |||||||
| chr14:73141056 | A | G | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.-136+4473A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141056 | |||||||
| chr14:73141135 | T | G | 1 | a0001c0001t0001g0009 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.-136+4552T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141135 | |||||||
| chr14:73141316 | G | GA | 26 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0265 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(23): Show |
intron_variant | MODIFIER | c.-136+4745dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73141316 | ||||||
| chr14:73141419 | C | T | 6 | a0001c0001t0003g0107 a0001c0001t0003g0122 a0001c0001t0003g0123 others(3): Show |
6 | HG00423.hp1 HG02155.hp1 NA18939.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+4836C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141419 | |||||||
| chr14:73141562 | C | G | 6 | a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 others(3): Show |
6 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.-136+4979C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141562 | |||||||
| chr14:73141619 | T | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-136+5036T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141619 | |||||||
| chr14:73141658 | G | A | 1 | a0001c0001t0001g0011 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-136+5075G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141658 | |||||||
| chr14:73141692 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-136+5109G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141692 | |||||||
| chr14:73141717 | G | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-136+5134G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141717 | |||||||
| chr14:73141761 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+5178G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141761 | |||||||
| chr14:73141806 | G | A | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-136+5223G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141806 | |||||||
| chr14:73141839 | T | G | 32 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0265 others(29): Show |
32 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(29): Show |
intron_variant | MODIFIER | c.-136+5256T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141839 | |||||||
| chr14:73141851 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+5268A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141851 | |||||||
| chr14:73141895 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-136+5312G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73141895 | |||||||
| chr14:73142045 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+5462C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142045 | |||||||
| chr14:73142053 | G | C | 1 | a0001c0001t0002g0370 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-136+5470G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142053 | |||||||
| chr14:73142061 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-136+5478C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142061 | |||||||
| chr14:73142066 | C | CA | 9 | a0001c0001t0001g0011 a0001c0001t0002g0260 a0001c0001t0002g0261 others(6): Show |
9 | HG01891.hp1 HG01943.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.-136+5497dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73142066 | ||||||
| chr14:73142079 | A | G | 7 | a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0287 others(4): Show |
7 | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-136+5496A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142079 | |||||||
| chr14:73142248 | A | G | 1 | a0001c0001t0005g0188 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-135-5547A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142248 | |||||||
| chr14:73142299 | A | G | 25 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0265 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(22): Show |
intron_variant | MODIFIER | c.-135-5496A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142299 | |||||||
| chr14:73142404 | T | C | 2 | a0001c0001t0009g0197 a0001c0001t0009g0224 |
2 | HG01070.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.-135-5391T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142404 | |||||||
| chr14:73142423 | C | A | 3 | a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0189 |
3 | NA18612.hp2 NA18959.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.-135-5372C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142423 | |||||||
| chr14:73142530 | G | A | 1 | a0001c0001t0001g0041 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.-135-5265G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142530 | |||||||
| chr14:73142861 | G | C | 1 | a0001c0001t0005g0171 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.-135-4934G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142861 | |||||||
| chr14:73142904 | T | C | 1 | a0001c0001t0001g0085 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-135-4891T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142904 | |||||||
| chr14:73142974 | C | T | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-135-4821C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73142974 | |||||||
| chr14:73143063 | A | C | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-135-4732A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143063 | |||||||
| chr14:73143102 | G | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-135-4693G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143102 | |||||||
| chr14:73143121 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-135-4674C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143121 | |||||||
| chr14:73143130 | A | G | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-135-4665A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143130 | |||||||
| chr14:73143161 | G | A | 8 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.-135-4634G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143161 | |||||||
| chr14:73143436 | A | G | 2 | a0001c0001t0001g0248 a0001c0001t0001g0249 |
2 | HG01891.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-135-4359A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143436 | |||||||
| chr14:73143456 | T | G | 9 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(6): Show |
9 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.-135-4339T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143456 | |||||||
| chr14:73143529 | T | G | 1 | a0001c0001t0002g0319 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-135-4266T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143529 | |||||||
| chr14:73143556 | G | C | 2 | a0001c0001t0003g0198 a0001c0001t0003g0199 |
2 | HG00639.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.-135-4239G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143556 | |||||||
| chr14:73143676 | C | T | 1 | a0001c0001t0001g0041 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.-135-4119C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143676 | |||||||
| chr14:73143702 | A | G | 2 | a0001c0001t0008g0190 a0001c0001t0008g0191 |
2 | HG01261.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-135-4093A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143702 | |||||||
| chr14:73143707 | G | A | 1 | a0001c0001t0009g0200 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.-135-4088G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143707 | |||||||
| chr14:73143803 | A | C | 2 | a0001c0001t0002g0319 a0001c0001t0002g0324 |
2 | HG01069.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.-135-3992A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73143803 | |||||||
| chr14:73143988 | T | TA | 9 | a0001c0001t0002g0314 a0001c0001t0003g0125 a0001c0001t0003g0201 others(6): Show |
9 | HG01192.hp1 HG02257.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-135-3780dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73143988 | ||||||
| chr14:73143988 | TA | T | 190 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(187): Show |
192 | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(189): Show |
intron_variant | MODIFIER | c.-135-3780delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73143988 | ||||||
| chr14:73143988 | TAA | T | 18 | a0001c0001t0001g0034 a0001c0001t0001g0083 a0001c0001t0001g0097 others(15): Show |
18 | HG01243.hp2 HG01891.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.-135-3781_-135-378 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73143988 | ||||||
| chr14:73143988 | TAAAA | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-135-3783_-135-378 others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73143988 | ||||||
| chr14:73144035 | C | CT | 52 | a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0001g0249 others(49): Show |
52 | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(49): Show |
intron_variant | MODIFIER | c.-135-3737dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144035 | ||||||
| chr14:73144035 | C | CTT | 8 | a0001c0001t0004g0007 a0001c0001t0004g0115 a0001c0001t0004g0235 others(5): Show |
8 | HG00741.hp1 HG02486.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-135-3738_-135-373 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144035 | ||||||
| chr14:73144035 | CT | C | 128 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show |
130 | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(127): Show |
intron_variant | MODIFIER | c.-135-3737delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144035 | ||||||
| chr14:73144035 | CTT | C | 18 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(15): Show |
18 | HG00323.hp2 HG00735.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-135-3738_-135-373 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144035 | ||||||
| chr14:73144035 | CTTTTTTT others(4): Show |
C | 3 | a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 |
3 | HG00140.hp2 HG01433.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.-135-3747_-135-373 others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144035 | ||||||
| chr14:73144063 | T | TG | 3 | a0001c0001t0003g0150 a0001c0001t0003g0302 a0001c0001t0004g0303 |
3 | HG02976.hp2 HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.-135-3730dupG | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73144063 | ||||||
| chr14:73144477 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-135-3318A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73144477 | |||||||
| chr14:73144528 | C | A | 1 | a0001c0001t0003g0304 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-135-3267C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73144528 | |||||||
| chr14:73144544 | G | A | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-135-3251G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73144544 | |||||||
| chr14:73144546 | A | C | 3 | a0001c0001t0004g0142 a0001c0001t0029g0132 a0001c0001t0030g0167 |
3 | HG02257.hp2 HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-135-3249A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73144546 | |||||||
| chr14:73144664 | G | A | 1 | a0001c0001t0006g0272 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-135-3131G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73144664 | |||||||
| chr14:73145048 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-135-2747A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145048 | |||||||
| chr14:73145134 | C | T | 35 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(32): Show |
35 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.-135-2661C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145134 | |||||||
| chr14:73145185 | G | A | 46 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(43): Show |
47 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.-135-2610G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145185 | |||||||
| chr14:73145189 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-135-2606G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145189 | |||||||
| chr14:73145324 | A | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-135-2471A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145324 | |||||||
| chr14:73145360 | G | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-135-2435G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145360 | |||||||
| chr14:73145460 | G | A | 2 | a0001c0001t0005g0174 a0001c0001t0005g0175 |
2 | NA19056.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-135-2335G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145460 | |||||||
| chr14:73145724 | T | G | 1 | a0001c0001t0012g0187 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-135-2071T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145724 | |||||||
| chr14:73145804 | A | T | 1 | a0001c0001t0001g0048 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-135-1991A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145804 | |||||||
| chr14:73145880 | G | A | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.-135-1915G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73145880 | |||||||
| chr14:73146060 | C | T | 30 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(27): Show |
30 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.-135-1735C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146060 | |||||||
| chr14:73146184 | C | CT | 96 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(93): Show |
97 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.-135-1590dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73146184 | ||||||
| chr14:73146184 | CT | C | 27 | a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0258 others(24): Show |
27 | HG00408.hp1 HG00544.hp2 HG01070.hp2 others(24): Show |
intron_variant | MODIFIER | c.-135-1590delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73146184 | ||||||
| chr14:73146184 | CTT | C | 8 | a0001c0001t0006g0256 a0001c0001t0006g0283 a0001c0001t0011g0306 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.-135-1591_-135-159 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73146184 | ||||||
| chr14:73146206 | A | T | 1 | a0001c0001t0005g0120 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-135-1589A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146206 | |||||||
| chr14:73146231 | C | T | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-135-1564C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146231 | |||||||
| chr14:73146286 | C | T | 1 | a0001c0001t0001g0135 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-135-1509C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146286 | |||||||
| chr14:73146296 | C | T | 1 | a0001c0001t0003g0193 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-135-1499C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146296 | |||||||
| chr14:73146334 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-135-1461C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146334 | |||||||
| chr14:73146433 | T | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-135-1362T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146433 | |||||||
| chr14:73146844 | T | A | 4 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(1): Show |
4 | HG01891.hp1 HG02145.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-135-951T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146844 | |||||||
| chr14:73146946 | T | C | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.-135-849T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146946 | |||||||
| chr14:73146969 | A | G | 1 | a0001c0001t0003g0223 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.-135-826A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73146969 | |||||||
| chr14:73147044 | C | CT | 43 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(40): Show |
44 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.-135-735dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73147044 | ||||||
| chr14:73147060 | T | TC | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.-135-734dupC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73147060 | ||||||
| chr14:73147104 | G | A | 16 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(13): Show |
16 | HG00408.hp1 HG00544.hp2 HG01975.hp1 others(13): Show |
intron_variant | MODIFIER | c.-135-691G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147104 | |||||||
| chr14:73147201 | G | A | 2 | a0001c0001t0004g0233 a0001c0001t0004g0245 |
2 | HG04199.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.-135-594G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147201 | |||||||
| chr14:73147250 | C | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-135-545C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147250 | |||||||
| chr14:73147338 | T | G | 1 | a0001c0001t0003g0203 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-135-457T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147338 | |||||||
| chr14:73147454 | G | A | 2 | a0001c0001t0004g0236 a0001c0001t0004g0237 |
2 | HG00544.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.-135-341G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147454 | |||||||
| chr14:73147509 | G | C | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.-135-286G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147509 | |||||||
| chr14:73147616 | T | G | 1 | a0001c0001t0002g0353 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-135-179T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147616 | |||||||
| chr14:73147638 | C | CTACCTTG others(4): Show |
3 | a0001c0001t0012g0177 a0001c0001t0012g0178 a0001c0001t0012g0183 |
3 | NA18964.hp1 NA18980.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.-135-154_-135-144d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | 73147638 | ||||||
| chr14:73147679 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.-135-116C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | chr14 | 73147679 | |||||||
| chr14:73148192 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.87+86A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148192 | |||||||
| chr14:73148358 | G | A | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.87+252G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148358 | |||||||
| chr14:73148412 | G | A | 1 | a0001c0001t0002g0354 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.87+306G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148412 | |||||||
| chr14:73148548 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.87+442C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148548 | |||||||
| chr14:73148561 | G | T | 1 | a0001c0001t0007g0369 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.87+455G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148561 | |||||||
| chr14:73148641 | T | A | 1 | a0001c0001t0004g0238 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.87+535T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148641 | |||||||
| chr14:73148687 | C | G | 1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.87+581C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148687 | |||||||
| chr14:73148902 | C | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.87+796C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148902 | |||||||
| chr14:73148911 | C | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+805C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148911 | |||||||
| chr14:73148914 | C | T | 2 | a0001c0002t0005g0117 a0001c0002t0005g0118 |
2 | HG00621.hp1 NA18942.hp1 |
intron_variant | MODIFIER | c.87+808C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148914 | |||||||
| chr14:73148945 | T | C | 1 | a0001c0001t0001g0057 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.87+839T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73148945 | |||||||
| chr14:73149020 | T | C | 69 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(66): Show |
69 | HG00408.hp1 HG00544.hp2 HG00733.hp1 others(66): Show |
intron_variant | MODIFIER | c.87+914T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149020 | |||||||
| chr14:73149199 | C | T | 1 | a0001c0001t0004g0235 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.87+1093C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149199 | |||||||
| chr14:73149323 | T | G | 2 | a0001c0001t0004g0142 a0001c0001t0029g0132 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.87+1217T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149323 | |||||||
| chr14:73149353 | G | A | 1 | a0001c0001t0001g0109 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.87+1247G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149353 | |||||||
| chr14:73149387 | A | T | 73 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(70): Show |
73 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.87+1281A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149387 | |||||||
| chr14:73149416 | A | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.87+1310A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149416 | |||||||
| chr14:73149521 | A | G | 1 | a0001c0001t0001g0097 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.87+1415A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149521 | |||||||
| chr14:73149802 | C | A | 1 | a0001c0001t0004g0239 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.87+1696C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149802 | |||||||
| chr14:73149840 | A | G | 1 | a0001c0001t0001g0082 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.87+1734A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149840 | |||||||
| chr14:73149927 | G | A | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+1821G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73149927 | |||||||
| chr14:73150164 | C | T | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.87+2058C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150164 | |||||||
| chr14:73150440 | G | A | 1 | a0001c0001t0006g0256 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.87+2334G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150440 | |||||||
| chr14:73150445 | G | A | 7 | a0001c0001t0001g0058 a0001c0001t0011g0306 a0001c0001t0011g0307 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.87+2339G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150445 | |||||||
| chr14:73150605 | A | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+2499A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150605 | |||||||
| chr14:73150610 | G | A | 43 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(40): Show |
43 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.87+2504G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150610 | |||||||
| chr14:73150764 | CA | C | 182 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 others(179): Show |
184 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(181): Show |
intron_variant | MODIFIER | c.87+2682delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73150764 | ||||||
| chr14:73150764 | CAA | C | 144 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(141): Show |
145 | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(142): Show |
intron_variant | MODIFIER | c.87+2681_87+2682del others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73150764 | ||||||
| chr14:73150798 | G | A | 1 | a0001c0001t0002g0355 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.87+2692G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150798 | |||||||
| chr14:73150808 | G | A | 45 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(42): Show |
46 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.87+2702G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150808 | |||||||
| chr14:73150839 | G | A | 1 | a0001c0001t0003g0202 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.87+2733G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150839 | |||||||
| chr14:73150938 | C | T | 1 | a0001c0001t0004g0237 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.87+2832C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73150938 | |||||||
| chr14:73151046 | C | T | 31 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(28): Show |
31 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.87+2940C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151046 | |||||||
| chr14:73151077 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.87+2971A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151077 | |||||||
| chr14:73151097 | G | A | 1 | a0001c0001t0002g0356 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.87+2991G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151097 | |||||||
| chr14:73151330 | G | A | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.87+3224G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151330 | |||||||
| chr14:73151372 | A | C | 1 | a0001c0001t0005g0182 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.87+3266A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151372 | |||||||
| chr14:73151372 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.87+3266A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151372 | |||||||
| chr14:73151465 | A | G | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.87+3359A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151465 | |||||||
| chr14:73151490 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.87+3384G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151490 | |||||||
| chr14:73151684 | C | T | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.87+3578C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151684 | |||||||
| chr14:73151830 | A | G | 1 | a0001c0001t0001g0090 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.87+3724A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151830 | |||||||
| chr14:73151860 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+3754C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151860 | |||||||
| chr14:73151878 | T | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.87+3772T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151878 | |||||||
| chr14:73151878 | T | TTATATAT others(3): Show |
1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.87+3780_87+3789dup others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(7): Show |
1 | a0001c0001t0011g0307 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.87+3776_87+3789dup others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(9): Show |
1 | a0001c0001t0006g0270 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.87+3774_87+3789dup others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(21): Show |
1 | a0002c0005t0006g0273 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(23): Show |
1 | a0001c0001t0006g0271 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(25): Show |
1 | a0001c0001t0006g0280 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTATATAT others(37): Show |
1 | a0001c0001t0006g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(44): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151878 | T | TTTTATAT others(17): Show |
1 | a0001c0001t0015g0300 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.87+3773_87+3774ins others(24): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151878 | ||||||
| chr14:73151880 | A | T | 1 | a0001c0001t0015g0301 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.87+3774A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151880 | |||||||
| chr14:73151882 | A | T | 1 | a0001c0001t0005g0158 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.87+3776A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151882 | |||||||
| chr14:73151892 | ATATTTTT others(4): Show |
A | 1 | a0001c0001t0011g0308 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.87+3788_87+3798del others(11): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151892 | ||||||
| chr14:73151892 | ATATTTTT others(6): Show |
A | 1 | a0001c0001t0002g0314 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.87+3788_87+3800del others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151892 | ||||||
| chr14:73151892 | ATATTTTT others(8): Show |
A | 1 | a0001c0001t0028g0292 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.87+3788_87+3802del others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151892 | ||||||
| chr14:73151893 | TA | T | 7 | a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0322 others(4): Show |
7 | HG01106.hp1 HG01167.hp1 HG01257.hp1 others(4): Show |
intron_variant | MODIFIER | c.87+3788delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151893 | |||||||
| chr14:73151894 | A | G | 1 | a0001c0001t0006g0275 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.87+3788A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151894 | |||||||
| chr14:73151894 | A | T | 2 | a0001c0001t0002g0316 a0001c0001t0002g0362 |
2 | HG02135.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.87+3788A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151894 | |||||||
| chr14:73151894 | AT | A | 15 | a0001c0001t0001g0013 a0001c0001t0002g0327 a0001c0001t0002g0332 others(12): Show |
15 | HG01175.hp1 HG01192.hp2 HG02148.hp2 others(12): Show |
intron_variant | MODIFIER | c.87+3823delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATT | A | 64 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(61): Show |
64 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.87+3822_87+3823del others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATTT | A | 94 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(91): Show |
95 | HG00099.hp2 HG00423.hp1 HG00609.hp2 others(92): Show |
intron_variant | MODIFIER | c.87+3821_87+3823del others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATTTT | A | 55 | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0079 others(52): Show |
56 | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.87+3820_87+3823del others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATTTTT | A | 63 | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 others(60): Show |
63 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.87+3819_87+3823del others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATTTTTT | A | 26 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 others(23): Show |
27 | HG00323.hp2 HG01074.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.87+3818_87+3823del others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151894 | ATTTTTTT | A | 6 | a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0004g0142 others(3): Show |
6 | HG02717.hp2 HG02922.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.87+3817_87+3823del others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73151894 | ||||||
| chr14:73151895 | T | TATATATA others(8): Show |
1 | a0001c0001t0019g0310 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(10): Show |
1 | a0001c0001t0011g0309 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(12): Show |
1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(14): Show |
1 | a0001c0001t0011g0306 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(21): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(16): Show |
1 | a0001c0001t0015g0301 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(23): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(20): Show |
3 | a0001c0001t0006g0272 a0001c0001t0006g0281 a0001c0001t0006g0283 |
3 | HG00408.hp1 HG01975.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.87+3789_87+3790ins others(27): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(22): Show |
1 | a0001c0001t0006g0276 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(29): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(26): Show |
1 | a0001c0001t0006g0147 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(33): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(28): Show |
4 | a0001c0001t0006g0256 a0001c0001t0006g0274 a0001c0001t0006g0277 others(1): Show |
4 | HG03704.hp2 NA18747.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+3789_87+3790ins others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(30): Show |
1 | a0001c0001t0006g0139 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(37): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151895 | T | TATATATA others(32): Show |
1 | a0001c0001t0006g0275 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.87+3789_87+3790ins others(39): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151895 | |||||||
| chr14:73151896 | T | A | 12 | a0001c0001t0001g0082 a0001c0001t0002g0329 a0001c0001t0006g0127 others(9): Show |
12 | HG00323.hp1 HG00544.hp2 HG00558.hp1 others(9): Show |
intron_variant | MODIFIER | c.87+3790T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151896 | |||||||
| chr14:73151897 | T | A | 20 | a0001c0001t0001g0013 a0001c0001t0002g0332 a0001c0001t0003g0193 others(17): Show |
20 | HG00408.hp1 HG01081.hp2 HG02056.hp1 others(17): Show |
intron_variant | MODIFIER | c.87+3791T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151897 | |||||||
| chr14:73151898 | T | A | 52 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(49): Show |
52 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(49): Show |
intron_variant | MODIFIER | c.87+3792T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151898 | |||||||
| chr14:73151899 | T | A | 102 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(99): Show |
103 | HG00099.hp2 HG00423.hp1 HG00609.hp2 others(100): Show |
intron_variant | MODIFIER | c.87+3793T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151899 | |||||||
| chr14:73151900 | T | A | 69 | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0048 others(66): Show |
70 | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.87+3794T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151900 | |||||||
| chr14:73151901 | T | A | 107 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(104): Show |
108 | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(105): Show |
intron_variant | MODIFIER | c.87+3795T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151901 | |||||||
| chr14:73151902 | T | A | 53 | a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0099 others(50): Show |
54 | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.87+3796T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151902 | |||||||
| chr14:73151903 | T | A | 75 | a0001c0001t0001g0066 a0001c0001t0001g0111 a0001c0001t0001g0128 others(72): Show |
75 | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.87+3797T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151903 | |||||||
| chr14:73151904 | T | A | 26 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 others(23): Show |
27 | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.87+3798T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151904 | |||||||
| chr14:73151905 | T | A | 40 | a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0002g0184 others(37): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.87+3799T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151905 | |||||||
| chr14:73151906 | T | A | 3 | a0001c0001t0005g0002 a0001c0001t0016g0266 a0001c0001t0027g0305 |
4 | HG01074.hp1 HG01074.hp2 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.87+3800T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151906 | |||||||
| chr14:73151907 | T | A | 6 | a0001c0001t0001g0134 a0001c0001t0005g0173 a0001c0001t0006g0276 others(3): Show |
6 | HG02027.hp1 HG02056.hp1 HG06807.hp1 others(3): Show |
intron_variant | MODIFIER | c.87+3801T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151907 | |||||||
| chr14:73151908 | T | A | 1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.87+3802T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151908 | |||||||
| chr14:73151909 | T | A | 1 | a0001c0001t0006g0276 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.87+3803T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73151909 | |||||||
| chr14:73152005 | G | A | 9 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(6): Show |
9 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.87+3899G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152005 | |||||||
| chr14:73152062 | C | T | 6 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show |
6 | HG02258.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+3956C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152062 | |||||||
| chr14:73152102 | G | A | 1 | a0001c0001t0003g0208 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.87+3996G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152102 | |||||||
| chr14:73152112 | C | T | 1 | a0001c0001t0004g0004 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.87+4006C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152112 | |||||||
| chr14:73152158 | C | T | 2 | a0001c0001t0002g0260 a0001c0001t0002g0368 |
2 | HG01891.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.87+4052C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152158 | |||||||
| chr14:73152440 | G | GA | 14 | a0001c0001t0005g0179 a0001c0001t0005g0182 a0001c0001t0007g0153 others(11): Show |
14 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.87+4351dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73152440 | ||||||
| chr14:73152440 | GA | G | 30 | a0001c0001t0001g0040 a0001c0001t0003g0150 a0001c0001t0003g0302 others(27): Show |
30 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.87+4351delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73152440 | ||||||
| chr14:73152478 | G | A | 1 | a0001c0001t0005g0175 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.87+4372G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152478 | |||||||
| chr14:73152506 | C | A | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4400C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152506 | |||||||
| chr14:73152510 | A | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4404A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152510 | |||||||
| chr14:73152513 | A | G | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4407A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152513 | |||||||
| chr14:73152514 | C | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4408C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152514 | |||||||
| chr14:73152517 | G | A | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4411G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152517 | |||||||
| chr14:73152527 | A | C | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4421A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152527 | |||||||
| chr14:73152531 | C | G | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4425C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152531 | |||||||
| chr14:73152532 | A | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4426A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152532 | |||||||
| chr14:73152533 | G | A | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4427G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152533 | |||||||
| chr14:73152543 | G | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4437G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152543 | |||||||
| chr14:73152548 | A | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4442A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152548 | |||||||
| chr14:73152549 | G | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4443G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152549 | |||||||
| chr14:73152556 | G | T | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4450G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152556 | |||||||
| chr14:73152557 | A | G | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4451A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152557 | |||||||
| chr14:73152562 | G | C | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4456G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152562 | |||||||
| chr14:73152565 | C | G | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4459C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152565 | |||||||
| chr14:73152574 | C | T | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.87+4468C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152574 | |||||||
| chr14:73152575 | C | G | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4469C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152575 | |||||||
| chr14:73152598 | G | A | 78 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(75): Show |
78 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.87+4492G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152598 | |||||||
| chr14:73152627 | A | C | 1 | a0001c0001t0003g0226 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.87+4521A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152627 | |||||||
| chr14:73152762 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+4656G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152762 | |||||||
| chr14:73152769 | A | C | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.87+4663A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152769 | |||||||
| chr14:73152780 | C | T | 3 | a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0229 |
3 | NA18955.hp1 NA18991.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.87+4674C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152780 | |||||||
| chr14:73152946 | A | G | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.87+4840A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73152946 | |||||||
| chr14:73153057 | T | A | 1 | a0001c0001t0001g0248 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.87+4951T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153057 | |||||||
| chr14:73153313 | A | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+5207A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153313 | |||||||
| chr14:73153352 | A | G | 1 | a0001c0001t0003g0222 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.87+5246A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153352 | |||||||
| chr14:73153528 | T | G | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.87+5422T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153528 | |||||||
| chr14:73153662 | A | AT | 247 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(244): Show |
249 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(246): Show |
intron_variant | MODIFIER | c.87+5570dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73153662 | ||||||
| chr14:73153662 | A | ATT | 21 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 others(18): Show |
21 | HG00408.hp2 HG01361.hp2 HG02056.hp2 others(18): Show |
intron_variant | MODIFIER | c.87+5569_87+5570dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73153662 | ||||||
| chr14:73153679 | C | G | 1 | a0001c0001t0004g0244 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.87+5573C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153679 | |||||||
| chr14:73153714 | C | CT | 64 | a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0002g0140 others(61): Show |
64 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.87+5624dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73153714 | ||||||
| chr14:73153714 | CT | C | 8 | a0001c0001t0001g0056 a0001c0001t0002g0319 a0001c0001t0002g0326 others(5): Show |
8 | HG01069.hp1 HG01256.hp2 HG01516.hp1 others(5): Show |
intron_variant | MODIFIER | c.87+5624delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73153714 | ||||||
| chr14:73153751 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.87+5645C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153751 | |||||||
| chr14:73153829 | T | C | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.87+5723T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153829 | |||||||
| chr14:73153854 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+5748C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153854 | |||||||
| chr14:73153945 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+5839C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153945 | |||||||
| chr14:73153962 | C | T | 41 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(38): Show |
41 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(38): Show |
intron_variant | MODIFIER | c.87+5856C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153962 | |||||||
| chr14:73153983 | G | A | 1 | a0001c0001t0018g0336 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.87+5877G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73153983 | |||||||
| chr14:73154050 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.87+5944G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154050 | |||||||
| chr14:73154122 | A | G | 1 | a0001c0001t0005g0002 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.87+6016A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154122 | |||||||
| chr14:73154195 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+6089A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154195 | |||||||
| chr14:73154203 | G | T | 1 | a0001c0001t0012g0183 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.87+6097G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154203 | |||||||
| chr14:73154207 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+6101A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154207 | |||||||
| chr14:73154288 | C | T | 2 | a0001c0001t0014g0170 a0001c0001t0014g0176 |
2 | NA18955.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.87+6182C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154288 | |||||||
| chr14:73154434 | C | CA | 249 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(246): Show |
251 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(248): Show |
intron_variant | MODIFIER | c.87+6338dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73154434 | ||||||
| chr14:73154434 | C | CAA | 18 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(15): Show |
18 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.87+6337_87+6338dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73154434 | ||||||
| chr14:73154541 | C | T | 2 | a0001c0001t0006g0139 a0001c0001t0006g0256 |
2 | HG03704.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.87+6435C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154541 | |||||||
| chr14:73154596 | G | C | 1 | a0001c0001t0008g0191 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.87+6490G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154596 | |||||||
| chr14:73154677 | A | G | 1 | a0001c0001t0002g0349 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.87+6571A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154677 | |||||||
| chr14:73154831 | A | C | 1 | a0001c0001t0002g0144 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.87+6725A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154831 | |||||||
| chr14:73154865 | A | G | 2 | a0001c0001t0004g0142 a0001c0001t0029g0132 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.87+6759A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154865 | |||||||
| chr14:73154868 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
92 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.87+6762A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154868 | |||||||
| chr14:73154909 | A | G | 2 | a0001c0001t0004g0100 a0001c0001t0004g0115 |
2 | HG02622.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.87+6803A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73154909 | |||||||
| chr14:73155089 | T | C | 11 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 others(8): Show |
11 | HG00408.hp2 HG02080.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.87+6983T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73155089 | |||||||
| chr14:73155770 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
92 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.87+7664C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73155770 | |||||||
| chr14:73155875 | A | G | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.87+7769A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73155875 | |||||||
| chr14:73155954 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+7848G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73155954 | |||||||
| chr14:73156000 | T | C | 55 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.87+7894T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156000 | |||||||
| chr14:73156031 | C | T | 1 | a0001c0001t0003g0207 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.87+7925C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156031 | |||||||
| chr14:73156040 | C | T | 2 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | HG00733.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.87+7934C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156040 | |||||||
| chr14:73156055 | T | A | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.87+7949T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156055 | |||||||
| chr14:73156105 | C | T | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+7999C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156105 | |||||||
| chr14:73156215 | G | T | 5 | a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 others(2): Show |
5 | NA18971.hp1 NA18975.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.87+8109G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156215 | |||||||
| chr14:73156257 | G | A | 2 | a0001c0001t0001g0018 a0001c0001t0001g0040 |
2 | HG02074.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.87+8151G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156257 | |||||||
| chr14:73156466 | C | T | 31 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(28): Show |
31 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.87+8360C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156466 | |||||||
| chr14:73156559 | A | C | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.87+8453A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156559 | |||||||
| chr14:73156833 | T | G | 1 | a0001c0001t0005g0171 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.87+8727T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73156833 | |||||||
| chr14:73157126 | C | T | 62 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(59): Show |
63 | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.87+9020C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157126 | |||||||
| chr14:73157127 | C | CT | 6 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(3): Show |
6 | HG01891.hp1 HG02145.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+9034dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73157127 | ||||||
| chr14:73157127 | CT | C | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.87+9034delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73157127 | ||||||
| chr14:73157178 | T | A | 2 | a0001c0001t0001g0071 a0001c0001t0001g0081 |
2 | HG02602.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.87+9072T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157178 | |||||||
| chr14:73157188 | T | C | 8 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.87+9082T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157188 | |||||||
| chr14:73157196 | G | T | 17 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(14): Show |
17 | HG00323.hp2 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.87+9090G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157196 | |||||||
| chr14:73157382 | G | A | 4 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0191 others(1): Show |
4 | HG01261.hp2 HG03831.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+9276G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157382 | |||||||
| chr14:73157430 | C | T | 2 | a0001c0001t0016g0278 a0001c0001t0025g0268 |
2 | HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.87+9324C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157430 | |||||||
| chr14:73157486 | G | A | 1 | a0001c0001t0002g0356 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.87+9380G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157486 | |||||||
| chr14:73157497 | A | G | 6 | a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 others(3): Show |
6 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.87+9391A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157497 | |||||||
| chr14:73157500 | C | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.87+9394C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157500 | |||||||
| chr14:73157580 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.87+9474A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157580 | |||||||
| chr14:73157587 | C | T | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.87+9481C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157587 | |||||||
| chr14:73157589 | A | G | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.87+9483A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157589 | |||||||
| chr14:73157917 | C | T | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+9811C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73157917 | |||||||
| chr14:73158056 | A | C | 4 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0191 others(1): Show |
4 | HG01261.hp2 HG03831.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.87+9950A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158056 | |||||||
| chr14:73158254 | A | G | 2 | a0001c0001t0007g0155 a0001c0001t0007g0156 |
2 | HG01243.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.87+10148A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158254 | |||||||
| chr14:73158282 | T | TTCTA | 131 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(128): Show |
134 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(131): Show |
intron_variant | MODIFIER | c.87+10226_87+10229d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | T | TTCTATCT others(1): Show |
44 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(41): Show |
44 | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.87+10222_87+10229d others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | T | TTCTATCT others(5): Show |
5 | a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0003g0123 others(2): Show |
5 | HG01952.hp1 HG02155.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.87+10218_87+10229d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | T | TTCTATCT others(9): Show |
1 | a0001c0001t0004g0290 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.87+10191_87+10192i others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | TTCTA | T | 41 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0054 others(38): Show |
41 | HG00408.hp2 HG01099.hp1 HG01169.hp2 others(38): Show |
intron_variant | MODIFIER | c.87+10226_87+10229d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | TTCTATCT others(1): Show |
T | 10 | a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0002g0140 others(7): Show |
10 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(7): Show |
intron_variant | MODIFIER | c.87+10222_87+10229d others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | TTCTATCT others(5): Show |
T | 6 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0137 others(3): Show |
6 | HG01106.hp2 HG02258.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+10218_87+10229d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158282 | TTCTATCT others(9): Show |
T | 1 | a0001c0001t0008g0105 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.87+10214_87+10229d others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158282 | ||||||
| chr14:73158286 | A | ATCTATCT others(5): Show |
2 | a0001c0001t0004g0291 a0001c0001t0004g0293 |
2 | HG02922.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.87+10191_87+10192i others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73158286 | ||||||
| chr14:73158290 | A | G | 1 | a0001c0001t0005g0171 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.87+10184A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158290 | |||||||
| chr14:73158345 | G | A | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+10239G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158345 | |||||||
| chr14:73158442 | C | G | 2 | a0001c0001t0004g0100 a0001c0001t0004g0115 |
2 | HG02622.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.87+10336C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158442 | |||||||
| chr14:73158659 | C | T | 78 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(75): Show |
78 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.87+10553C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158659 | |||||||
| chr14:73158662 | A | G | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.87+10556A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158662 | |||||||
| chr14:73158720 | C | A | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.87+10614C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158720 | |||||||
| chr14:73158750 | C | G | 1 | a0001c0001t0001g0099 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.87+10644C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158750 | |||||||
| chr14:73158790 | A | G | 1 | a0001c0001t0002g0374 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.87+10684A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158790 | |||||||
| chr14:73158834 | A | C | 55 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.87+10728A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158834 | |||||||
| chr14:73158961 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.87+10855G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73158961 | |||||||
| chr14:73159017 | G | T | 1 | a0001c0001t0002g0317 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.87+10911G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159017 | |||||||
| chr14:73159179 | A | AT | 24 | a0001c0001t0001g0091 a0001c0001t0002g0322 a0001c0001t0002g0323 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.87+11090dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73159179 | ||||||
| chr14:73159179 | AT | A | 55 | a0001c0001t0002g0317 a0001c0001t0003g0003 a0001c0001t0003g0107 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.87+11090delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73159179 | ||||||
| chr14:73159352 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.87+11246C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159352 | |||||||
| chr14:73159443 | T | G | 1 | a0001c0001t0001g0021 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.87+11337T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159443 | |||||||
| chr14:73159486 | C | G | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.88-11311C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159486 | |||||||
| chr14:73159512 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-11285G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159512 | |||||||
| chr14:73159589 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-11208A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159589 | |||||||
| chr14:73159900 | G | C | 1 | a0001c0001t0002g0349 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.88-10897G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73159900 | |||||||
| chr14:73160035 | G | A | 39 | a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0101 others(36): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.88-10762G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160035 | |||||||
| chr14:73160195 | A | G | 2 | a0001c0001t0002g0316 a0001c0001t0002g0317 |
2 | NA18951.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.88-10602A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160195 | |||||||
| chr14:73160197 | T | A | 48 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(45): Show |
48 | HG00408.hp1 HG00544.hp2 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.88-10600T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160197 | |||||||
| chr14:73160611 | T | A | 4 | a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0014g0170 others(1): Show |
4 | HG00621.hp2 NA18955.hp2 NA18974.hp1 others(1): Show |
intron_variant | MODIFIER | c.88-10186T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160611 | |||||||
| chr14:73160701 | T | C | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.88-10096T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160701 | |||||||
| chr14:73160803 | C | CT | 308 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(305): Show |
311 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
intron_variant | MODIFIER | c.88-9972dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73160803 | ||||||
| chr14:73160803 | C | CTT | 38 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0038 others(35): Show |
38 | HG00408.hp1 HG00544.hp2 HG00639.hp1 others(35): Show |
intron_variant | MODIFIER | c.88-9973_88-9972dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73160803 | ||||||
| chr14:73160900 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-9897C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160900 | |||||||
| chr14:73160932 | A | G | 1 | a0001c0001t0001g0085 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.88-9865A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160932 | |||||||
| chr14:73160936 | T | C | 1 | a0001c0001t0017g0267 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.88-9861T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160936 | |||||||
| chr14:73160969 | C | CT | 43 | a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0002g0265 others(40): Show |
43 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.88-9809dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73160969 | ||||||
| chr14:73160969 | CT | C | 7 | a0001c0001t0001g0008 a0001c0001t0001g0067 a0001c0001t0001g0103 others(4): Show |
7 | HG01169.hp1 HG01943.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.88-9809delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73160969 | ||||||
| chr14:73160990 | G | A | 1 | a0001c0001t0007g0154 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.88-9807G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73160990 | |||||||
| chr14:73161141 | A | G | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.88-9656A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161141 | |||||||
| chr14:73161415 | A | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9382A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161415 | |||||||
| chr14:73161416 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9381G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161416 | |||||||
| chr14:73161417 | T | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9380T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161417 | |||||||
| chr14:73161418 | T | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9379T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161418 | |||||||
| chr14:73161419 | T | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9378T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161419 | |||||||
| chr14:73161420 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-9377C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161420 | |||||||
| chr14:73161481 | GACTCA | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-9310_88-9306del others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73161481 | ||||||
| chr14:73161596 | G | A | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.88-9201G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161596 | |||||||
| chr14:73161729 | A | T | 1 | a0001c0001t0004g0246 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.88-9068A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161729 | |||||||
| chr14:73161731 | A | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-9066A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161731 | |||||||
| chr14:73161798 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-8999C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161798 | |||||||
| chr14:73161820 | A | G | 1 | a0001c0001t0005g0163 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.88-8977A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161820 | |||||||
| chr14:73161892 | C | T | 1 | a0001c0001t0002g0259 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.88-8905C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73161892 | |||||||
| chr14:73161992 | T | TA | 126 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(123): Show |
127 | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(124): Show |
intron_variant | MODIFIER | c.88-8781dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73161992 | ||||||
| chr14:73161992 | T | TAA | 11 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0044 others(8): Show |
11 | HG00642.hp2 HG00735.hp2 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.88-8782_88-8781dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73161992 | ||||||
| chr14:73161992 | TA | T | 7 | a0001c0001t0006g0256 a0001c0001t0006g0272 a0001c0001t0011g0306 others(4): Show |
7 | HG01074.hp2 HG01975.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.88-8781delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73161992 | ||||||
| chr14:73162017 | T | A | 2 | a0001c0001t0007g0284 a0001c0001t0007g0288 |
2 | HG02055.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.88-8780T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162017 | |||||||
| chr14:73162021 | A | G | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.88-8776A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162021 | |||||||
| chr14:73162097 | C | T | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.88-8700C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162097 | |||||||
| chr14:73162098 | T | G | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.88-8699T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162098 | |||||||
| chr14:73162175 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.88-8622A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162175 | |||||||
| chr14:73162179 | C | CA | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-8604dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73162179 | ||||||
| chr14:73162286 | C | G | 2 | a0001c0001t0001g0055 a0001c0001t0001g0065 |
2 | NA18980.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.88-8511C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162286 | |||||||
| chr14:73162346 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.88-8451G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162346 | |||||||
| chr14:73162422 | C | T | 4 | a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0248 others(1): Show |
4 | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.88-8375C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162422 | |||||||
| chr14:73162447 | G | GCT | 63 | a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0003g0003 others(60): Show |
64 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(61): Show |
intron_variant | MODIFIER | c.88-8334_88-8333dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73162447 | ||||||
| chr14:73162450 | C | G | 2 | a0001c0001t0002g0332 a0001c0001t0023g0321 |
2 | NA18969.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.88-8347C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162450 | |||||||
| chr14:73162473 | G | GGA | 4 | a0001c0001t0006g0139 a0001c0001t0016g0266 a0001c0001t0016g0278 others(1): Show |
4 | HG01884.hp2 HG03098.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.88-8304_88-8303dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73162473 | ||||||
| chr14:73162473 | GGA | G | 55 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(52): Show |
55 | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.88-8304_88-8303del others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73162473 | ||||||
| chr14:73162498 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.88-8299G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162498 | |||||||
| chr14:73162647 | T | A | 2 | a0001c0001t0001g0018 a0001c0001t0001g0040 |
2 | HG02074.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.88-8150T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162647 | |||||||
| chr14:73162654 | C | G | 1 | a0001c0001t0002g0255 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.88-8143C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162654 | |||||||
| chr14:73162920 | T | C | 33 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(30): Show |
33 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.88-7877T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162920 | |||||||
| chr14:73162996 | A | G | 1 | a0001c0001t0003g0125 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.88-7801A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73162996 | |||||||
| chr14:73163024 | A | G | 39 | a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0101 others(36): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.88-7773A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163024 | |||||||
| chr14:73163312 | T | C | 1 | a0001c0001t0003g0210 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.88-7485T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163312 | |||||||
| chr14:73163349 | A | C | 1 | a0001c0001t0003g0193 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.88-7448A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163349 | |||||||
| chr14:73163447 | C | T | 8 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.88-7350C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163447 | |||||||
| chr14:73163562 | G | A | 261 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(258): Show |
263 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(260): Show |
intron_variant | MODIFIER | c.88-7235G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163562 | |||||||
| chr14:73163706 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.88-7091A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163706 | |||||||
| chr14:73163734 | G | T | 1 | a0001c0001t0028g0292 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.88-7063G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163734 | |||||||
| chr14:73163850 | G | C | 3 | a0001c0001t0004g0142 a0001c0001t0029g0132 a0001c0001t0030g0167 |
3 | HG02257.hp2 HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.88-6947G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73163850 | |||||||
| chr14:73163930 | T | TA | 8 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(5): Show |
8 | HG01074.hp2 HG02486.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.88-6855dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73163930 | ||||||
| chr14:73164254 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-6543A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164254 | |||||||
| chr14:73164352 | T | C | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.88-6445T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164352 | |||||||
| chr14:73164384 | A | G | 31 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(28): Show |
31 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.88-6413A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164384 | |||||||
| chr14:73164503 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-6294G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164503 | |||||||
| chr14:73164532 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-6265A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164532 | |||||||
| chr14:73164658 | C | CT | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.88-6138dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73164658 | ||||||
| chr14:73164768 | A | G | 1 | a0001c0001t0003g0217 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.88-6029A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164768 | |||||||
| chr14:73164863 | C | CAT | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-5923_88-5922dup others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73164863 | ||||||
| chr14:73164900 | C | A | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.88-5897C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164900 | |||||||
| chr14:73164985 | C | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.88-5812C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73164985 | |||||||
| chr14:73165049 | C | T | 2 | a0001c0001t0005g0101 a0001c0001t0005g0120 |
2 | HG01261.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.88-5748C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165049 | |||||||
| chr14:73165081 | C | T | 4 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0191 others(1): Show |
4 | HG01261.hp2 HG03831.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.88-5716C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165081 | |||||||
| chr14:73165202 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-5595C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165202 | |||||||
| chr14:73165247 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
92 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.88-5550C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165247 | |||||||
| chr14:73165270 | T | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.88-5527T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165270 | |||||||
| chr14:73165312 | G | C | 1 | a0001c0001t0002g0353 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.88-5485G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165312 | |||||||
| chr14:73165353 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.88-5444A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165353 | |||||||
| chr14:73165520 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-5277C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165520 | |||||||
| chr14:73165727 | A | G | 1 | a0001c0001t0005g0002 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.88-5070A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165727 | |||||||
| chr14:73165744 | G | A | 35 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(32): Show |
35 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.88-5053G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165744 | |||||||
| chr14:73165748 | T | TA | 24 | a0001c0001t0001g0039 a0001c0001t0002g0355 a0001c0001t0004g0100 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.88-5032dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73165748 | ||||||
| chr14:73165748 | TA | T | 6 | a0001c0001t0003g0199 a0001c0001t0003g0214 a0001c0001t0004g0250 others(3): Show |
7 | HG00639.hp2 HG01070.hp2 HG01074.hp1 others(4): Show |
intron_variant | MODIFIER | c.88-5032delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73165748 | ||||||
| chr14:73165780 | G | A | 43 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(40): Show |
43 | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(40): Show |
intron_variant | MODIFIER | c.88-5017G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165780 | |||||||
| chr14:73165784 | G | A | 3 | a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 |
3 | HG00140.hp2 HG01433.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.88-5013G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165784 | |||||||
| chr14:73165786 | G | T | 1 | a0001c0001t0013g0335 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.88-5011G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165786 | |||||||
| chr14:73165949 | G | C | 2 | a0001c0001t0002g0316 a0001c0001t0002g0317 |
2 | NA18951.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.88-4848G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165949 | |||||||
| chr14:73165962 | G | A | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.88-4835G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73165962 | |||||||
| chr14:73166049 | A | AAAT | 112 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(109): Show |
113 | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(110): Show |
intron_variant | MODIFIER | c.88-4727_88-4725dup others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73166049 | ||||||
| chr14:73166183 | G | A | 4 | a0001c0001t0005g0101 a0001c0001t0005g0120 a0001c0001t0005g0180 others(1): Show |
4 | HG01069.hp2 HG01071.hp2 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.88-4614G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73166183 | |||||||
| chr14:73166789 | A | G | 2 | a0001c0001t0008g0105 a0001c0001t0008g0106 |
2 | HG00323.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.88-4008A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73166789 | |||||||
| chr14:73166914 | C | T | 3 | a0001c0001t0004g0142 a0001c0001t0029g0132 a0001c0001t0030g0167 |
3 | HG02257.hp2 HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.88-3883C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73166914 | |||||||
| chr14:73166993 | G | GATTT | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.88-3787_88-3784dup others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73166993 | ||||||
| chr14:73167147 | CCAG | C | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.88-3644_88-3642del others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167147 | ||||||
| chr14:73167619 | C | T | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.88-3178C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73167619 | |||||||
| chr14:73167742 | G | GT | 33 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(30): Show |
33 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.88-3044dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167742 | ||||||
| chr14:73167742 | GT | G | 39 | a0001c0001t0003g0003 a0001c0001t0003g0195 a0001c0001t0003g0201 others(36): Show |
40 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.88-3044delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167742 | ||||||
| chr14:73167758 | T | G | 51 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(48): Show |
52 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.88-3039T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73167758 | |||||||
| chr14:73167828 | C | CT | 24 | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0042 others(21): Show |
24 | HG01243.hp2 HG01358.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.88-2951dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167828 | ||||||
| chr14:73167828 | CT | C | 28 | a0001c0001t0003g0211 a0001c0001t0004g0004 a0001c0001t0004g0005 others(25): Show |
28 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.88-2951delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167828 | ||||||
| chr14:73167828 | CTTT | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.88-2953_88-2951del others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73167828 | ||||||
| chr14:73168032 | C | T | 1 | a0001c0001t0001g0010 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.88-2765C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168032 | |||||||
| chr14:73168090 | T | TC | 5 | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0079 others(2): Show |
5 | HG00140.hp1 HG01496.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.88-2706dupC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | 73168090 | ||||||
| chr14:73168122 | G | A | 2 | a0001c0001t0013g0341 a0001c0001t0013g0352 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.88-2675G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168122 | |||||||
| chr14:73168337 | C | A | 26 | a0001c0001t0004g0375 a0001c0001t0007g0153 a0001c0001t0007g0154 others(23): Show |
26 | HG00323.hp2 HG01074.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.88-2460C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168337 | |||||||
| chr14:73168422 | G | A | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.88-2375G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168422 | |||||||
| chr14:73168500 | G | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-2297G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168500 | |||||||
| chr14:73168513 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-2284G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168513 | |||||||
| chr14:73168556 | G | T | 2 | a0001c0001t0002g0102 a0001c0001t0002g0144 |
2 | HG03017.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.88-2241G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168556 | |||||||
| chr14:73168697 | C | T | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.88-2100C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168697 | |||||||
| chr14:73168791 | T | A | 51 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(48): Show |
52 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.88-2006T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168791 | |||||||
| chr14:73168897 | T | C | 1 | a0001c0001t0003g0205 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.88-1900T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168897 | |||||||
| chr14:73168916 | A | T | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.88-1881A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168916 | |||||||
| chr14:73168938 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-1859C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73168938 | |||||||
| chr14:73169083 | C | T | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.88-1714C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169083 | |||||||
| chr14:73169256 | T | A | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.88-1541T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169256 | |||||||
| chr14:73169309 | G | T | 1 | a0001c0001t0004g0295 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.88-1488G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169309 | |||||||
| chr14:73169336 | T | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.88-1461T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169336 | |||||||
| chr14:73169384 | G | A | 4 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(1): Show |
4 | HG01891.hp1 HG02145.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.88-1413G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169384 | |||||||
| chr14:73169403 | T | G | 2 | a0001c0001t0005g0157 a0001c0001t0005g0160 |
2 | NA18941.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.88-1394T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169403 | |||||||
| chr14:73169438 | C | T | 1 | a0001c0001t0006g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.88-1359C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169438 | |||||||
| chr14:73169525 | C | T | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.88-1272C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169525 | |||||||
| chr14:73169598 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.88-1199C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169598 | |||||||
| chr14:73169735 | A | T | 44 | a0001c0001t0004g0375 a0001c0001t0006g0127 a0001c0001t0006g0139 others(41): Show |
44 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.88-1062A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169735 | |||||||
| chr14:73169807 | G | A | 1 | a0001c0001t0001g0029 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.88-990G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169807 | |||||||
| chr14:73169835 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.88-962G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73169835 | |||||||
| chr14:73170197 | C | G | 2 | a0001c0001t0001g0018 a0001c0001t0001g0040 |
2 | HG02074.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.88-600C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73170197 | |||||||
| chr14:73170372 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.88-425C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73170372 | |||||||
| chr14:73170402 | T | C | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.88-395T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73170402 | |||||||
| chr14:73170486 | A | G | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.88-311A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73170486 | |||||||
| chr14:73170511 | C | G | 1 | a0001c0001t0002g0140 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.88-286C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | 73170511 | |||||||
| chr14:73171253 | T | C | 44 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 others(41): Show |
44 | HG00408.hp1 HG00544.hp2 HG00733.hp1 others(41): Show |
intron_variant | MODIFIER | c.338+206T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171253 | |||||||
| chr14:73171334 | G | A | 1 | a0001c0001t0024g0241 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.338+287G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171334 | |||||||
| chr14:73171433 | G | A | 1 | a0001c0001t0005g0188 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.338+386G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171433 | |||||||
| chr14:73171502 | A | G | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.338+455A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171502 | |||||||
| chr14:73171619 | T | C | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.338+572T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171619 | |||||||
| chr14:73171770 | G | A | 1 | a0001c0001t0005g0188 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.338+723G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171770 | |||||||
| chr14:73171921 | G | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.338+874G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171921 | |||||||
| chr14:73171994 | T | C | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.338+947T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73171994 | |||||||
| chr14:73172135 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.338+1088G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172135 | |||||||
| chr14:73172243 | G | A | 11 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 others(8): Show |
11 | HG00408.hp2 HG02080.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.338+1196G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172243 | |||||||
| chr14:73172360 | G | A | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.339-1206G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172360 | |||||||
| chr14:73172399 | T | C | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.339-1167T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172399 | |||||||
| chr14:73172430 | A | G | 45 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(42): Show |
46 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.339-1136A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172430 | |||||||
| chr14:73172432 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.339-1134G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172432 | |||||||
| chr14:73172486 | C | T | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.339-1080C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172486 | |||||||
| chr14:73172512 | G | C | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.339-1054G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172512 | |||||||
| chr14:73172573 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.339-993A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172573 | |||||||
| chr14:73172609 | T | C | 3 | a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0337 |
3 | HG02165.hp1 NA18951.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.339-957T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172609 | |||||||
| chr14:73172792 | G | T | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.339-774G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172792 | |||||||
| chr14:73172969 | C | T | 1 | a0001c0001t0001g0065 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.339-597C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73172969 | |||||||
| chr14:73173118 | T | C | 1 | a0001c0001t0003g0122 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.339-448T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73173118 | |||||||
| chr14:73173321 | A | G | 2 | a0001c0001t0001g0068 a0001c0001t0001g0074 |
2 | HG00738.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.339-245A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 4/11 | chr14 | 73173321 | |||||||
| chr14:73173851 | C | T | 5 | a0001c0001t0002g0318 a0001c0001t0002g0322 a0001c0001t0002g0323 others(2): Show |
5 | HG01106.hp1 HG01257.hp1 HG01361.hp1 others(2): Show |
intron_variant | MODIFIER | c.480+144C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73173851 | |||||||
| chr14:73173929 | C | T | 1 | a0001c0001t0004g0119 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.480+222C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73173929 | |||||||
| chr14:73173930 | A | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.480+223A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73173930 | |||||||
| chr14:73174283 | A | G | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.480+576A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73174283 | |||||||
| chr14:73174337 | G | A | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.480+630G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73174337 | |||||||
| chr14:73174416 | T | A | 1 | a0001c0001t0005g0188 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.480+709T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73174416 | |||||||
| chr14:73174500 | C | CTGGGA | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.480+795_480+799dup others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73174500 | ||||||
| chr14:73174750 | A | T | 45 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(42): Show |
45 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(42): Show |
intron_variant | MODIFIER | c.480+1043A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73174750 | |||||||
| chr14:73175208 | G | A | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.480+1501G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175208 | |||||||
| chr14:73175213 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.480+1506G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175213 | |||||||
| chr14:73175314 | A | AC | 63 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(60): Show |
63 | HG00408.hp1 HG00544.hp2 HG00733.hp1 others(60): Show |
intron_variant | MODIFIER | c.480+1608dupC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73175314 | ||||||
| chr14:73175468 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.480+1761C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175468 | |||||||
| chr14:73175511 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.480+1804G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175511 | |||||||
| chr14:73175602 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.480+1895G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175602 | |||||||
| chr14:73175676 | AAT | A | 3 | a0001c0001t0006g0271 a0001c0001t0006g0280 a0002c0005t0006g0273 |
3 | NA18947.hp2 NA18965.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.480+1970_480+1971d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175676 | |||||||
| chr14:73175839 | A | G | 1 | a0001c0001t0002g0349 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.480+2132A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175839 | |||||||
| chr14:73175859 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.480+2152A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175859 | |||||||
| chr14:73175877 | A | G | 1 | a0001c0001t0005g0171 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.480+2170A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175877 | |||||||
| chr14:73175937 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.480+2230C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73175937 | |||||||
| chr14:73176251 | A | G | 1 | a0001c0001t0030g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.480+2544A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176251 | |||||||
| chr14:73176351 | G | A | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.480+2644G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176351 | |||||||
| chr14:73176490 | C | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.480+2783C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176490 | |||||||
| chr14:73176666 | A | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.480+2959A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176666 | |||||||
| chr14:73176726 | C | T | 1 | a0001c0001t0004g0245 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.480+3019C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176726 | |||||||
| chr14:73176780 | T | C | 2 | a0001c0001t0015g0300 a0001c0001t0015g0301 |
2 | HG01081.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.480+3073T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176780 | |||||||
| chr14:73176911 | C | G | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.480+3204C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176911 | |||||||
| chr14:73176960 | T | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.480+3253T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73176960 | |||||||
| chr14:73177010 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.480+3303A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73177010 | |||||||
| chr14:73177011 | AT | A | 25 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(22): Show |
25 | HG00323.hp2 HG01074.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.480+3310delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73177011 | ||||||
| chr14:73177030 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.480+3323G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73177030 | |||||||
| chr14:73177055 | C | T | 1 | a0001c0001t0002g0346 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.480+3348C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73177055 | |||||||
| chr14:73177288 | CTCT | C | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.480+3585_480+3587d others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73177288 | ||||||
| chr14:73177391 | G | GTGTTTT | 36 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(33): Show |
36 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(33): Show |
intron_variant | MODIFIER | c.480+3709_480+3714d others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73177391 | ||||||
| chr14:73177755 | C | T | 1 | a0001c0001t0003g0225 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.480+4048C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73177755 | |||||||
| chr14:73177830 | T | C | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.480+4123T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73177830 | |||||||
| chr14:73177966 | CTT | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.480+4269_480+4270d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73177966 | ||||||
| chr14:73178027 | T | A | 39 | a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0101 others(36): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.480+4320T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178027 | |||||||
| chr14:73178219 | C | CT | 14 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show |
14 | HG00642.hp2 HG00735.hp2 HG01952.hp1 others(11): Show |
intron_variant | MODIFIER | c.480+4530dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73178219 | ||||||
| chr14:73178219 | C | CTT | 31 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(28): Show |
31 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(28): Show |
intron_variant | MODIFIER | c.480+4529_480+4530d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73178219 | ||||||
| chr14:73178219 | CT | C | 12 | a0001c0001t0005g0173 a0001c0001t0007g0153 a0001c0001t0007g0154 others(9): Show |
12 | HG01243.hp2 HG02027.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.480+4530delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73178219 | ||||||
| chr14:73178220 | T | C | 1 | a0001c0001t0002g0359 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.480+4513T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178220 | |||||||
| chr14:73178221 | T | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.480+4514T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178221 | |||||||
| chr14:73178244 | G | C | 1 | a0001c0001t0001g0041 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.480+4537G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178244 | |||||||
| chr14:73178354 | A | G | 1 | a0001c0001t0001g0068 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.480+4647A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178354 | |||||||
| chr14:73178699 | A | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.480+4992A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178699 | |||||||
| chr14:73178975 | T | C | 1 | a0001c0001t0001g0141 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.480+5268T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73178975 | |||||||
| chr14:73179043 | T | G | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.480+5336T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179043 | |||||||
| chr14:73179230 | A | G | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.480+5523A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179230 | |||||||
| chr14:73179264 | C | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.480+5557C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179264 | |||||||
| chr14:73179397 | G | A | 2 | a0001c0001t0016g0278 a0001c0001t0025g0268 |
2 | HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.480+5690G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179397 | |||||||
| chr14:73179447 | T | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.480+5740T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179447 | |||||||
| chr14:73179477 | C | CA | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.480+5771dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73179477 | ||||||
| chr14:73179664 | G | A | 1 | a0001c0001t0004g0238 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.480+5957G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179664 | |||||||
| chr14:73179690 | A | G | 1 | a0001c0001t0002g0354 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.480+5983A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179690 | |||||||
| chr14:73179789 | T | C | 2 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | HG00733.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.480+6082T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179789 | |||||||
| chr14:73179968 | T | A | 3 | a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0073 |
3 | HG01256.hp1 HG01928.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.480+6261T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179968 | |||||||
| chr14:73179991 | A | AT | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.480+6295dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73179991 | ||||||
| chr14:73179996 | T | A | 124 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
125 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(122): Show |
intron_variant | MODIFIER | c.480+6289T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73179996 | |||||||
| chr14:73180015 | C | CA | 38 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(35): Show |
38 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(35): Show |
intron_variant | MODIFIER | c.480+6309dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73180015 | ||||||
| chr14:73180142 | G | T | 1 | a0001c0001t0001g0010 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.480+6435G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180142 | |||||||
| chr14:73180283 | C | A | 1 | a0001c0001t0002g0318 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.481-6570C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180283 | |||||||
| chr14:73180445 | G | A | 1 | a0001c0001t0004g0247 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.481-6408G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180445 | |||||||
| chr14:73180466 | G | C | 81 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(78): Show |
81 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.481-6387G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180466 | |||||||
| chr14:73180525 | G | A | 46 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(43): Show |
47 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.481-6328G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180525 | |||||||
| chr14:73180622 | A | T | 1 | a0001c0001t0006g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.481-6231A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73180622 | |||||||
| chr14:73181059 | A | G | 1 | a0001c0001t0001g0081 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.481-5794A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181059 | |||||||
| chr14:73181115 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-5738G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181115 | |||||||
| chr14:73181262 | A | G | 1 | a0001c0001t0001g0082 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.481-5591A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181262 | |||||||
| chr14:73181271 | C | G | 2 | a0001c0001t0015g0300 a0001c0001t0015g0301 |
2 | HG01081.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.481-5582C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181271 | |||||||
| chr14:73181441 | A | G | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.481-5412A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181441 | |||||||
| chr14:73181493 | A | C | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.481-5360A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181493 | |||||||
| chr14:73181724 | G | C | 3 | a0001c0001t0003g0150 a0001c0001t0003g0302 a0001c0001t0004g0303 |
3 | HG02976.hp2 HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.481-5129G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181724 | |||||||
| chr14:73181782 | A | T | 4 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0025 others(1): Show |
4 | NA19003.hp1 NA19007.hp1 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-5071A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181782 | |||||||
| chr14:73181794 | G | C | 1 | a0001c0001t0001g0064 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.481-5059G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181794 | |||||||
| chr14:73181798 | A | G | 1 | a0001c0001t0003g0299 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.481-5055A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181798 | |||||||
| chr14:73181878 | A | G | 1 | a0001c0001t0003g0193 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.481-4975A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181878 | |||||||
| chr14:73181907 | G | A | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-4946G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181907 | |||||||
| chr14:73181919 | A | G | 24 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(21): Show |
24 | HG00323.hp2 HG01074.hp2 HG01243.hp2 others(21): Show |
intron_variant | MODIFIER | c.481-4934A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73181919 | |||||||
| chr14:73182105 | G | A | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.481-4748G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73182105 | |||||||
| chr14:73182507 | T | A | 1 | a0001c0001t0005g0339 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.481-4346T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73182507 | |||||||
| chr14:73182775 | G | T | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.481-4078G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73182775 | |||||||
| chr14:73182861 | A | T | 1 | a0001c0001t0004g0235 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.481-3992A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73182861 | |||||||
| chr14:73183080 | T | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-3773T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183080 | |||||||
| chr14:73183158 | C | T | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.481-3695C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183158 | |||||||
| chr14:73183223 | T | G | 1 | a0001c0001t0002g0146 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.481-3630T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183223 | |||||||
| chr14:73183292 | AT | A | 199 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(196): Show |
201 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(198): Show |
intron_variant | MODIFIER | c.481-3549delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183292 | ||||||
| chr14:73183304 | T | A | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.481-3549T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183304 | |||||||
| chr14:73183335 | T | C | 1 | a0001c0001t0002g0146 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.481-3518T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183335 | |||||||
| chr14:73183391 | T | C | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.481-3462T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183391 | |||||||
| chr14:73183752 | C | T | 1 | a0001c0001t0004g0245 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.481-3101C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183752 | |||||||
| chr14:73183753 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.481-3100G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183753 | |||||||
| chr14:73183802 | G | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-3051G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183802 | |||||||
| chr14:73183838 | C | G | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.481-3015C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183838 | |||||||
| chr14:73183869 | GGCGGCCG others(120): Show |
G | 1 | a0001c0001t0002g0347 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.481-2968_481-2842d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183869 | ||||||
| chr14:73183893 | ACCTCCCG others(269): Show |
A | 12 | a0001c0001t0006g0127 a0001c0001t0006g0271 a0001c0001t0006g0272 others(9): Show |
12 | HG00408.hp1 HG00544.hp2 HG01975.hp1 others(9): Show |
intron_variant | MODIFIER | c.481-2951_481-2676d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183893 | ||||||
| chr14:73183899 | C | T | 3 | a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0004g0234 |
3 | HG02109.hp1 HG03139.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.481-2954C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183899 | |||||||
| chr14:73183902 | G | A | 13 | a0001c0001t0006g0139 a0001c0001t0006g0147 a0001c0001t0006g0256 others(10): Show |
13 | HG01074.hp2 HG01081.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.481-2951G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183902 | |||||||
| chr14:73183919 | GCGGGGGG others(220): Show |
G | 5 | a0001c0001t0006g0139 a0001c0001t0006g0147 a0001c0001t0015g0300 others(2): Show |
5 | HG01081.hp2 HG02145.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.481-2883_481-2657d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183919 | ||||||
| chr14:73183921 | GGGGGGCT others(268): Show |
G | 1 | a0001c0001t0006g0270 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.481-2926_481-2652d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183921 | ||||||
| chr14:73183931 | C | T | 8 | a0001c0001t0002g0358 a0001c0001t0003g0211 a0001c0001t0011g0306 others(5): Show |
8 | HG01074.hp2 HG02071.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.481-2922C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183931 | |||||||
| chr14:73183949 | G | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2904G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183949 | |||||||
| chr14:73183965 | C | T | 1 | a0001c0001t0003g0217 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.481-2888C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183965 | |||||||
| chr14:73183966 | GGGCAGAG others(71): Show |
G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2883_481-2806d others(80): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73183966 | ||||||
| chr14:73183969 | CAGAGGGG others(219): Show |
C | 1 | a0001c0001t0006g0256 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.481-2883_481-2658d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183969 | |||||||
| chr14:73183972 | A | G | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2881A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183972 | |||||||
| chr14:73183978 | T | A | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.481-2875T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183978 | |||||||
| chr14:73183979 | C | A | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.481-2874C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183979 | |||||||
| chr14:73183979 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.481-2874C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183979 | |||||||
| chr14:73183981 | T | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2872T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183981 | |||||||
| chr14:73183985 | T | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2868T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183985 | |||||||
| chr14:73183990 | A | T | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2863A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183990 | |||||||
| chr14:73183991 | G | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2862G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183991 | |||||||
| chr14:73183992 | T | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2861T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183992 | |||||||
| chr14:73183993 | A | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2860A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183993 | |||||||
| chr14:73183996 | A | G | 236 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(233): Show |
238 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show |
intron_variant | MODIFIER | c.481-2857A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73183996 | |||||||
| chr14:73184003 | G | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2850G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184003 | |||||||
| chr14:73184007 | A | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2846A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184007 | |||||||
| chr14:73184009 | A | G | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2844A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184009 | |||||||
| chr14:73184012 | C | G | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2841C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184012 | |||||||
| chr14:73184017 | C | G | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.481-2836C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184017 | |||||||
| chr14:73184018 | T | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2835T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184018 | |||||||
| chr14:73184020 | ACCTCCCG others(42): Show |
A | 1 | a0001c0001t0001g0033 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.481-2826_481-2778d others(51): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184020 | ||||||
| chr14:73184021 | C | G | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.481-2832C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184021 | |||||||
| chr14:73184044 | A | G | 13 | a0001c0001t0002g0358 a0001c0001t0003g0225 a0001c0001t0007g0153 others(10): Show |
13 | HG01243.hp2 HG02055.hp2 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.481-2809A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184044 | |||||||
| chr14:73184047 | C | T | 2 | a0001c0001t0005g0180 a0001c0001t0005g0181 |
2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.481-2806C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184047 | |||||||
| chr14:73184057 | A | AC | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2796_481-2795i others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184057 | |||||||
| chr14:73184058 | T | C | 7 | a0001c0001t0002g0358 a0001c0001t0011g0306 a0001c0001t0011g0307 others(4): Show |
7 | HG01074.hp2 HG02071.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.481-2795T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184058 | |||||||
| chr14:73184076 | A | G | 7 | a0001c0001t0002g0358 a0001c0001t0011g0306 a0001c0001t0011g0307 others(4): Show |
7 | HG01074.hp2 HG02071.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.481-2777A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184076 | |||||||
| chr14:73184079 | C | T | 1 | a0001c0001t0003g0203 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.481-2774C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184079 | |||||||
| chr14:73184092 | C | T | 2 | a0001c0001t0005g0174 a0001c0001t0005g0175 |
2 | NA19056.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.481-2761C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184092 | |||||||
| chr14:73184098 | G | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2755G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184098 | |||||||
| chr14:73184105 | G | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2748G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184105 | |||||||
| chr14:73184106 | A | AC | 22 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(19): Show |
22 | HG01167.hp1 HG01175.hp1 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.481-2738dupC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184106 | ||||||
| chr14:73184106 | A | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2747A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184106 | |||||||
| chr14:73184107 | C | T | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2746C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184107 | |||||||
| chr14:73184108 | C | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-2745C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184108 | |||||||
| chr14:73184108 | C | CCCCCCCA others(41): Show |
28 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(25): Show |
28 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(25): Show |
intron_variant | MODIFIER | c.481-2739_481-2738i others(50): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184108 | ||||||
| chr14:73184108 | CCCCCCCC others(42): Show |
C | 4 | a0001c0001t0003g0150 a0001c0001t0003g0304 a0001c0001t0004g0303 others(1): Show |
4 | HG02647.hp1 HG02976.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-2722_481-2674d others(51): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184108 | ||||||
| chr14:73184109 | C | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2744C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184109 | |||||||
| chr14:73184109 | CCCCCCCA others(41): Show |
C | 7 | a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0201 others(4): Show |
7 | HG02129.hp1 HG02280.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.481-2737_481-2690d others(50): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184109 | ||||||
| chr14:73184109 | CCCCCCCA others(90): Show |
C | 1 | a0001c0001t0003g0228 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.481-2737_481-2641d others(99): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184109 | ||||||
| chr14:73184111 | C | T | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2742C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184111 | |||||||
| chr14:73184112 | C | T | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2741C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184112 | |||||||
| chr14:73184116 | A | AGTAGGAG others(18): Show |
1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2737_481-2736i others(27): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184116 | |||||||
| chr14:73184131 | A | G | 89 | a0001c0001t0001g0042 a0001c0001t0001g0098 a0001c0001t0001g0099 others(86): Show |
89 | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(86): Show |
intron_variant | MODIFIER | c.481-2722A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184131 | |||||||
| chr14:73184131 | AGGGCGGC others(42): Show |
A | 1 | a0001c0001t0002g0265 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.481-2707_481-2659d others(51): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184131 | ||||||
| chr14:73184143 | C | T | 2 | a0001c0001t0008g0192 a0001c0001t0010g0052 |
2 | NA18991.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.481-2710C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184143 | |||||||
| chr14:73184144 | G | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2709G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184144 | |||||||
| chr14:73184146 | C | G | 36 | a0001c0001t0002g0358 a0001c0001t0004g0004 a0001c0001t0004g0005 others(33): Show |
36 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.481-2707C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184146 | |||||||
| chr14:73184146 | CCGGGGGG others(42): Show |
C | 47 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(44): Show |
48 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.481-2558_481-2510d others(51): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184146 | ||||||
| chr14:73184158 | C | T | 2 | a0001c0001t0002g0358 a0001c0006t0006g0152 |
2 | HG02071.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.481-2695C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184158 | |||||||
| chr14:73184176 | G | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2677G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184176 | |||||||
| chr14:73184180 | G | A | 6 | a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0201 others(3): Show |
6 | HG02129.hp1 HG02280.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.481-2673G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184180 | |||||||
| chr14:73184195 | G | C | 11 | a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0150 others(8): Show |
11 | HG02129.hp1 HG02280.hp2 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.481-2658G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184195 | |||||||
| chr14:73184195 | G | GCGGGGGG others(91): Show |
1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.481-2625_481-2624i others(100): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184195 | ||||||
| chr14:73184196 | C | G | 1 | a0001c0001t0006g0256 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.481-2657C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184196 | |||||||
| chr14:73184206 | A | AC | 11 | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0071 others(8): Show |
11 | HG01074.hp2 HG02056.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.481-2640dupC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184206 | ||||||
| chr14:73184207 | CCCCCCCA others(41): Show |
C | 1 | a0001c0001t0009g0216 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.481-2639_481-2592d others(50): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184207 | ||||||
| chr14:73184209 | C | A | 6 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(3): Show |
6 | HG00735.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2644C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184209 | |||||||
| chr14:73184228 | C | T | 7 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(4): Show |
7 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.481-2625C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184228 | |||||||
| chr14:73184229 | G | A | 2 | a0001c0001t0002g0358 a0001c0001t0003g0228 |
2 | HG02071.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.481-2624G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184229 | |||||||
| chr14:73184241 | C | A | 1 | a0001c0001t0001g0104 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.481-2612C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184241 | |||||||
| chr14:73184241 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-2612C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184241 | |||||||
| chr14:73184244 | G | C | 2 | a0001c0001t0002g0358 a0001c0001t0003g0228 |
2 | HG02071.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.481-2609G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184244 | |||||||
| chr14:73184246 | GGGGGGCT others(41): Show |
G | 1 | a0001c0001t0009g0224 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.481-2601_481-2554d others(50): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184246 | ||||||
| chr14:73184261 | C | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2592C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184261 | |||||||
| chr14:73184267 | CCCTCCCG others(83): Show |
C | 17 | a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0345 others(14): Show |
17 | HG00558.hp2 HG02015.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.481-2532_481-2443d others(92): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184267 | ||||||
| chr14:73184275 | G | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-2578G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184275 | |||||||
| chr14:73184286 | TGGCCGGG others(169): Show |
T | 1 | a0001c0001t0001g0041 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.481-2558_481-2383d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184286 | ||||||
| chr14:73184294 | C | CA | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2559_481-2558i others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184294 | |||||||
| chr14:73184296 | G | A | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2557G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184296 | |||||||
| chr14:73184302 | TGACCC | T | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2550_481-2546d others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184302 | |||||||
| chr14:73184304 | A | ACCCCCCC others(43): Show |
1 | a0001c0001t0004g0237 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.481-2510_481-2509i others(52): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184304 | ||||||
| chr14:73184305 | CCCCCCCA others(82): Show |
C | 1 | a0001c0001t0002g0362 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.481-2541_481-2453d others(91): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184305 | ||||||
| chr14:73184306 | C | CCCCCCAC others(42): Show |
4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-2510_481-2509i others(51): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184306 | ||||||
| chr14:73184310 | C | G | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.481-2543C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184310 | |||||||
| chr14:73184310 | C | T | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2543C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184310 | |||||||
| chr14:73184312 | ACCTC | A | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2534_481-2531d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184312 | ||||||
| chr14:73184316 | CCCTCCCG others(34): Show |
C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0074 |
3 | HG00738.hp1 HG01433.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.481-2509_481-2469d others(43): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184316 | ||||||
| chr14:73184318 | C | T | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2535C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184318 | |||||||
| chr14:73184323 | G | A | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2530G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184323 | |||||||
| chr14:73184325 | A | T | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2528A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184325 | |||||||
| chr14:73184326 | C | A | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2527C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184326 | |||||||
| chr14:73184331 | CGGCT | C | 10 | a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0192 others(7): Show |
10 | HG01074.hp2 HG01243.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.481-2518_481-2515d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184331 | ||||||
| chr14:73184335 | T | TGGCCGGG others(30): Show |
44 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(41): Show |
44 | HG00323.hp2 HG00733.hp1 HG01106.hp2 others(41): Show |
intron_variant | MODIFIER | c.481-2505_481-2504i others(39): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184335 | ||||||
| chr14:73184335 | TGGCCGGG others(120): Show |
T | 83 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(80): Show |
84 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.481-2440_481-2314d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184335 | ||||||
| chr14:73184340 | GGGCAGAG others(83): Show |
G | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.481-2504_481-2415d others(92): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184340 | ||||||
| chr14:73184344 | A | G | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2509A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184344 | |||||||
| chr14:73184346 | A | G | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2507A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184346 | |||||||
| chr14:73184350 | G | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2503G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184350 | |||||||
| chr14:73184355 | T | A | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2498T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184355 | |||||||
| chr14:73184357 | A | C | 1 | a0001c0001t0002g0358 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.481-2496A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184357 | |||||||
| chr14:73184375 | CTGGCCGG others(119): Show |
C | 1 | a0001c0001t0001g0094 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.481-2477_481-2352d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184375 | |||||||
| chr14:73184381 | G | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.481-2472G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184381 | |||||||
| chr14:73184383 | G | T | 1 | a0001c0001t0007g0154 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.481-2470G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184383 | |||||||
| chr14:73184384 | C | G | 1 | a0001c0001t0003g0201 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.481-2469C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184384 | |||||||
| chr14:73184384 | C | T | 54 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(51): Show |
55 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.481-2469C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184384 | |||||||
| chr14:73184385 | GGGGGGCT others(119): Show |
G | 1 | a0001c0001t0001g0087 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.481-2462_481-2337d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184385 | ||||||
| chr14:73184388 | G | A | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.481-2465G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184388 | |||||||
| chr14:73184395 | CCCCCCCA others(119): Show |
C | 1 | a0001c0001t0001g0047 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.481-2451_481-2326d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184395 | ||||||
| chr14:73184411 | T | C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0074 |
3 | HG00738.hp1 HG01433.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.481-2442T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184411 | |||||||
| chr14:73184413 | C | G | 4 | a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0068 others(1): Show |
4 | HG00738.hp1 HG01433.hp1 NA18942.hp2 others(1): Show |
intron_variant | MODIFIER | c.481-2440C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184413 | |||||||
| chr14:73184417 | G | A | 1 | a0001c0001t0001g0030 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.481-2436G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184417 | |||||||
| chr14:73184425 | TGGCCTGG others(30): Show |
T | 3 | a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0074 |
3 | HG00738.hp1 HG01433.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.481-2423_481-2387d others(39): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184425 | ||||||
| chr14:73184491 | G | A | 3 | a0001c0001t0002g0184 a0001c0001t0005g0185 a0001c0001t0005g0264 |
3 | HG02523.hp1 NA18998.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.481-2362G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184491 | |||||||
| chr14:73184495 | G | T | 55 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.481-2358G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184495 | |||||||
| chr14:73184502 | C | T | 55 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.481-2351C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184502 | |||||||
| chr14:73184507 | CGGGCGGG others(169): Show |
C | 1 | a0001c0001t0001g0030 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.481-2315_481-2140d others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184507 | ||||||
| chr14:73184511 | C | G | 3 | a0001c0001t0003g0150 a0001c0001t0003g0302 a0001c0001t0004g0303 |
3 | HG02976.hp2 HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.481-2342C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184511 | |||||||
| chr14:73184537 | C | G | 1 | a0001c0001t0004g0296 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.481-2316C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184537 | |||||||
| chr14:73184540 | G | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2313G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184540 | |||||||
| chr14:73184541 | G | A | 1 | a0001c0001t0004g0240 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.481-2312G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184541 | |||||||
| chr14:73184543 | C | T | 1 | a0001c0001t0004g0293 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.481-2310C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184543 | |||||||
| chr14:73184544 | A | G | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.481-2309A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184544 | |||||||
| chr14:73184589 | C | T | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.481-2264C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184589 | |||||||
| chr14:73184597 | C | A | 1 | a0001c0001t0001g0088 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.481-2256C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184597 | |||||||
| chr14:73184603 | C | T | 4 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(1): Show |
4 | HG01243.hp2 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.481-2250C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184603 | |||||||
| chr14:73184617 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-2236C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184617 | |||||||
| chr14:73184670 | C | T | 2 | a0001c0001t0003g0125 a0001c0001t0003g0217 |
2 | HG02698.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.481-2183C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184670 | |||||||
| chr14:73184697 | AC | A | 34 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(31): Show |
34 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.481-2149delC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184697 | ||||||
| chr14:73184718 | A | G | 1 | a0001c0001t0004g0247 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.481-2135A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184718 | |||||||
| chr14:73184741 | G | T | 13 | a0001c0001t0002g0184 a0001c0001t0005g0168 a0001c0001t0005g0169 others(10): Show |
13 | HG00621.hp2 HG02027.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.481-2112G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184741 | |||||||
| chr14:73184764 | C | T | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-2089C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184764 | |||||||
| chr14:73184773 | G | T | 1 | a0001c0001t0002g0315 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.481-2080G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184773 | |||||||
| chr14:73184781 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-2072C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184781 | |||||||
| chr14:73184791 | C | CGCTCCTC others(33): Show |
1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.481-2009_481-1970d others(42): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184791 | ||||||
| chr14:73184791 | CGCTCCTC others(33): Show |
C | 1 | a0001c0001t0028g0292 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.481-2009_481-1970d others(42): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73184791 | ||||||
| chr14:73184809 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-2044C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184809 | |||||||
| chr14:73184814 | C | T | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.481-2039C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184814 | |||||||
| chr14:73184835 | C | G | 1 | a0001c0001t0004g0235 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.481-2018C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184835 | |||||||
| chr14:73184852 | G | GC | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.481-2001_481-2000i others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184852 | |||||||
| chr14:73184871 | G | A | 1 | a0001c0001t0002g0350 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.481-1982G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184871 | |||||||
| chr14:73184926 | C | T | 51 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(48): Show |
52 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.481-1927C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184926 | |||||||
| chr14:73184929 | G | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-1924G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184929 | |||||||
| chr14:73184938 | C | A | 6 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show |
6 | HG02258.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-1915C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73184938 | |||||||
| chr14:73185015 | G | A | 4 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0191 others(1): Show |
4 | HG01261.hp2 HG03831.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-1838G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185015 | |||||||
| chr14:73185028 | C | T | 5 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(2): Show |
5 | HG01169.hp2 HG01943.hp2 HG02004.hp2 others(2): Show |
intron_variant | MODIFIER | c.481-1825C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185028 | |||||||
| chr14:73185041 | A | C | 1 | a0001c0001t0001g0074 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.481-1812A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185041 | |||||||
| chr14:73185045 | G | T | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.481-1808G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185045 | |||||||
| chr14:73185072 | A | G | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.481-1781A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185072 | |||||||
| chr14:73185095 | G | A | 1 | a0001c0001t0005g0186 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.481-1758G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185095 | |||||||
| chr14:73185156 | A | G | 1 | a0001c0001t0005g0162 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.481-1697A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185156 | |||||||
| chr14:73185198 | C | CG | 4 | a0001c0001t0001g0071 a0001c0001t0002g0146 a0001c0001t0005g0339 others(1): Show |
4 | HG00738.hp2 HG02055.hp1 HG02602.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-1651dupG | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73185198 | ||||||
| chr14:73185207 | G | C | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.481-1646G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185207 | |||||||
| chr14:73185219 | G | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-1634G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185219 | |||||||
| chr14:73185222 | A | G | 3 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0151 |
3 | HG02258.hp1 HG02897.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.481-1631A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185222 | |||||||
| chr14:73185313 | A | G | 1 | a0001c0001t0002g0344 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.481-1540A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185313 | |||||||
| chr14:73185321 | G | A | 1 | a0001c0001t0002g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.481-1532G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185321 | |||||||
| chr14:73185341 | C | T | 1 | a0001c0001t0007g0153 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.481-1512C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185341 | |||||||
| chr14:73185429 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-1424C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185429 | |||||||
| chr14:73185433 | G | C | 1 | a0001c0001t0010g0052 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.481-1420G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185433 | |||||||
| chr14:73185478 | G | A | 1 | a0001c0001t0021g0348 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.481-1375G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185478 | |||||||
| chr14:73185507 | A | G | 2 | a0001c0001t0003g0209 a0001c0001t0003g0215 |
2 | NA18999.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.481-1346A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185507 | |||||||
| chr14:73185536 | A | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-1317A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185536 | |||||||
| chr14:73185591 | G | C | 6 | a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0287 others(3): Show |
6 | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.481-1262G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185591 | |||||||
| chr14:73185607 | G | A | 1 | a0001c0001t0012g0178 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.481-1246G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185607 | |||||||
| chr14:73185615 | AGAGAGG | A | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.481-1220_481-1215d others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | 73185615 | ||||||
| chr14:73185623 | A | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.481-1230A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185623 | |||||||
| chr14:73185659 | A | G | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-1194A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185659 | |||||||
| chr14:73185972 | C | T | 1 | a0001c0001t0004g0296 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.481-881C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73185972 | |||||||
| chr14:73186071 | T | C | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.481-782T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186071 | |||||||
| chr14:73186207 | G | C | 81 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(78): Show |
81 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.481-646G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186207 | |||||||
| chr14:73186235 | C | G | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.481-618C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186235 | |||||||
| chr14:73186275 | G | A | 43 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(40): Show |
43 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.481-578G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186275 | |||||||
| chr14:73186311 | G | A | 3 | a0001c0001t0003g0150 a0001c0001t0003g0302 a0001c0001t0004g0303 |
3 | HG02976.hp2 HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.481-542G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186311 | |||||||
| chr14:73186335 | C | T | 45 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(42): Show |
46 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.481-518C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186335 | |||||||
| chr14:73186490 | A | G | 4 | a0001c0001t0002g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 others(1): Show |
4 | HG02523.hp1 NA18947.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.481-363A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186490 | |||||||
| chr14:73186548 | G | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.481-305G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186548 | |||||||
| chr14:73186648 | G | A | 1 | a0001c0001t0018g0342 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.481-205G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | chr14 | 73186648 | |||||||
| chr14:73187132 | A | T | 6 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(3): Show |
6 | HG00735.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.548+212A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187132 | |||||||
| chr14:73187219 | G | A | 1 | a0001c0001t0002g0318 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.548+299G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187219 | |||||||
| chr14:73187281 | A | G | 3 | a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 |
3 | HG00639.hp1 HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.548+361A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187281 | |||||||
| chr14:73187313 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.548+393T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187313 | |||||||
| chr14:73187459 | G | A | 1 | a0001c0001t0006g0147 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.548+539G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187459 | |||||||
| chr14:73187618 | T | C | 6 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(3): Show |
6 | HG00735.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.548+698T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187618 | |||||||
| chr14:73187619 | C | A | 1 | a0001c0001t0007g0156 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.548+699C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187619 | |||||||
| chr14:73187980 | G | A | 4 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(1): Show |
4 | HG01891.hp1 HG02145.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.548+1060G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187980 | |||||||
| chr14:73187984 | A | G | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.548+1064A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187984 | |||||||
| chr14:73187987 | G | C | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.548+1067G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187987 | |||||||
| chr14:73187997 | C | T | 1 | a0001c0001t0011g0309 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.548+1077C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187997 | |||||||
| chr14:73187998 | G | A | 1 | a0001c0001t0004g0245 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.548+1078G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73187998 | |||||||
| chr14:73188009 | A | G | 1 | a0001c0001t0004g0119 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.548+1089A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73188009 | |||||||
| chr14:73188016 | C | T | 1 | a0001c0001t0005g0116 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.548+1096C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73188016 | |||||||
| chr14:73188063 | G | C | 1 | a0001c0001t0003g0193 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.548+1143G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73188063 | |||||||
| chr14:73188176 | C | T | 1 | a0001c0001t0004g0236 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.548+1256C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73188176 | |||||||
| chr14:73188200 | TA | T | 47 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(44): Show |
47 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(44): Show |
intron_variant | MODIFIER | c.548+1282delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73188200 | ||||||
| chr14:73188295 | GATC | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.548+1382_548+1384d others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73188295 | ||||||
| chr14:73188378 | G | A | 14 | a0001c0001t0005g0116 a0001c0001t0005g0157 a0001c0001t0005g0158 others(11): Show |
14 | HG00423.hp2 HG00621.hp1 HG02135.hp2 others(11): Show |
intron_variant | MODIFIER | c.548+1458G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73188378 | |||||||
| chr14:73188765 | TTTTC | T | 3 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0368 |
3 | HG01891.hp1 HG02145.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.548+1853_548+1856d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73188765 | ||||||
| chr14:73189036 | C | G | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.548+2116C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189036 | |||||||
| chr14:73189070 | C | T | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.548+2150C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189070 | |||||||
| chr14:73189360 | C | T | 1 | a0001c0001t0002g0344 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.548+2440C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189360 | |||||||
| chr14:73189383 | G | C | 2 | a0001c0001t0016g0278 a0001c0001t0025g0268 |
2 | HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.548+2463G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189383 | |||||||
| chr14:73189448 | T | TAAAAATA others(169): Show |
9 | a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0274 others(6): Show |
9 | HG00408.hp1 HG01975.hp1 NA18747.hp2 others(6): Show |
intron_variant | MODIFIER | c.548+2554_548+2555i others(178): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(174): Show |
1 | a0001c0001t0006g0147 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.548+2554_548+2555i others(183): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(183): Show |
2 | a0001c0001t0015g0301 a0001c0006t0006g0152 |
2 | HG01081.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.548+2554_548+2555i others(192): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(184): Show |
1 | a0001c0001t0015g0300 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.548+2554_548+2555i others(193): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(188): Show |
1 | a0001c0001t0006g0277 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.548+2554_548+2555i others(197): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(189): Show |
2 | a0001c0001t0006g0139 a0001c0001t0006g0270 |
2 | HG02738.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.548+2554_548+2555i others(198): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(198): Show |
1 | a0001c0001t0006g0276 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.548+2554_548+2555i others(207): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(201): Show |
1 | a0001c0001t0006g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.548+2554_548+2555i others(210): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189448 | T | TAAAAATA others(202): Show |
1 | a0001c0001t0006g0256 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.548+2554_548+2555i others(211): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73189448 | ||||||
| chr14:73189469 | G | A | 1 | a0001c0001t0005g0002 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.548+2549G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189469 | |||||||
| chr14:73189495 | C | T | 1 | a0001c0001t0003g0313 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.548+2575C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189495 | |||||||
| chr14:73189561 | G | A | 2 | a0001c0001t0004g0245 a0001c0004t0020g0311 |
2 | NA19030.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.548+2641G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189561 | |||||||
| chr14:73189607 | C | T | 1 | a0001c0001t0001g0032 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.548+2687C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189607 | |||||||
| chr14:73189895 | C | T | 7 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 others(4): Show |
7 | HG00642.hp2 HG00735.hp2 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.549-2749C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189895 | |||||||
| chr14:73189896 | G | A | 6 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(3): Show |
6 | HG00735.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.549-2748G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189896 | |||||||
| chr14:73189997 | GTGGCTCC others(21): Show |
G | 1 | a0001c0001t0001g0091 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.549-2646_549-2619d others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73189997 | |||||||
| chr14:73190233 | A | G | 4 | a0001c0001t0003g0150 a0001c0001t0003g0302 a0001c0001t0003g0304 others(1): Show |
4 | HG02647.hp1 HG02976.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.549-2411A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190233 | |||||||
| chr14:73190281 | G | T | 1 | a0001c0001t0023g0321 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.549-2363G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190281 | |||||||
| chr14:73190460 | G | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.549-2184G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190460 | |||||||
| chr14:73190472 | C | A | 39 | a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0101 others(36): Show |
40 | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.549-2172C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190472 | |||||||
| chr14:73190485 | TA | T | 73 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0051 others(70): Show |
73 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(70): Show |
intron_variant | MODIFIER | c.549-2139delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73190485 | ||||||
| chr14:73190485 | TAA | T | 14 | a0001c0001t0001g0042 a0001c0001t0004g0006 a0001c0001t0007g0153 others(11): Show |
14 | HG01169.hp2 HG01243.hp2 HG01358.hp1 others(11): Show |
intron_variant | MODIFIER | c.549-2140_549-2139d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73190485 | ||||||
| chr14:73190486 | A | T | 5 | a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 others(2): Show |
5 | HG00609.hp1 HG02083.hp2 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.549-2158A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190486 | |||||||
| chr14:73190487 | A | T | 9 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(6): Show |
9 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.549-2157A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190487 | |||||||
| chr14:73190488 | A | T | 1 | a0001c0001t0008g0192 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.549-2156A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190488 | |||||||
| chr14:73190543 | T | A | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.549-2101T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190543 | |||||||
| chr14:73190634 | T | G | 35 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(32): Show |
35 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.549-2010T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190634 | |||||||
| chr14:73190912 | A | G | 1 | a0001c0001t0011g0306 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.549-1732A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73190912 | |||||||
| chr14:73191153 | A | T | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.549-1491A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73191153 | |||||||
| chr14:73191398 | A | AGT | 25 | a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0218 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(22): Show |
intron_variant | MODIFIER | c.549-1233_549-1232d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | 73191398 | ||||||
| chr14:73191429 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
92 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.549-1215C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73191429 | |||||||
| chr14:73191533 | C | T | 3 | a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0024g0241 |
3 | HG00099.hp2 HG01928.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.549-1111C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73191533 | |||||||
| chr14:73191557 | TC | T | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.549-1086delC | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73191557 | |||||||
| chr14:73192180 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.549-464G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192180 | |||||||
| chr14:73192267 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.549-377A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192267 | |||||||
| chr14:73192346 | T | A | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.549-298T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192346 | |||||||
| chr14:73192359 | T | G | 2 | a0001c0001t0013g0341 a0001c0001t0013g0352 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.549-285T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192359 | |||||||
| chr14:73192366 | C | T | 2 | a0001c0001t0004g0254 a0001c0001t0005g0188 |
2 | HG01361.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.549-278C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192366 | |||||||
| chr14:73192446 | C | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.549-198C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | 73192446 | |||||||
| chr14:73193028 | C | T | 1 | a0001c0001t0003g0220 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.769+164C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193028 | |||||||
| chr14:73193048 | T | C | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.769+184T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193048 | |||||||
| chr14:73193167 | G | A | 4 | a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0014g0170 others(1): Show |
4 | HG00621.hp2 NA18955.hp2 NA18974.hp1 others(1): Show |
intron_variant | MODIFIER | c.769+303G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193167 | |||||||
| chr14:73193199 | A | T | 7 | a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(4): Show |
7 | HG00558.hp1 HG01943.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.769+335A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193199 | |||||||
| chr14:73193390 | C | T | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.769+526C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193390 | |||||||
| chr14:73193404 | G | C | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.769+540G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193404 | |||||||
| chr14:73193491 | A | G | 15 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 others(12): Show |
15 | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.769+627A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193491 | |||||||
| chr14:73193536 | C | T | 1 | a0001c0001t0003g0208 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.769+672C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193536 | |||||||
| chr14:73193549 | CA | C | 233 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(230): Show |
235 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(232): Show |
intron_variant | MODIFIER | c.769+700delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73193549 | ||||||
| chr14:73193549 | CAA | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.769+699_769+700del others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73193549 | ||||||
| chr14:73193551 | AAAAAAAA others(8): Show |
A | 1 | a0001c0001t0003g0297 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.769+700_769+714del others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73193551 | ||||||
| chr14:73193563 | A | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.769+699A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193563 | |||||||
| chr14:73193564 | A | G | 4 | a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0006g0277 others(1): Show |
4 | HG01978.hp1 HG03688.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.769+700A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193564 | |||||||
| chr14:73193565 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.769+701G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193565 | |||||||
| chr14:73193565 | G | C | 4 | a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0006g0277 others(1): Show |
4 | HG01978.hp1 HG03688.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.769+701G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193565 | |||||||
| chr14:73193566 | C | A | 5 | a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0006g0277 others(2): Show |
5 | HG01978.hp1 HG03688.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.769+702C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193566 | |||||||
| chr14:73193584 | A | G | 119 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(116): Show |
120 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(117): Show |
intron_variant | MODIFIER | c.769+720A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193584 | |||||||
| chr14:73193822 | A | G | 1 | a0001c0001t0005g0002 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.769+958A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193822 | |||||||
| chr14:73193859 | A | G | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.769+995A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193859 | |||||||
| chr14:73193872 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.769+1008G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193872 | |||||||
| chr14:73193922 | A | G | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.769+1058A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73193922 | |||||||
| chr14:73194073 | C | T | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.769+1209C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194073 | |||||||
| chr14:73194122 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.769+1258C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194122 | |||||||
| chr14:73194239 | C | CT | 40 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(37): Show |
40 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.769+1385dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73194239 | ||||||
| chr14:73194425 | T | A | 39 | a0001c0001t0001g0097 a0001c0001t0004g0004 a0001c0001t0004g0005 others(36): Show |
39 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.769+1561T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194425 | |||||||
| chr14:73194426 | A | T | 9 | a0001c0001t0002g0325 a0001c0001t0003g0126 a0001c0001t0004g0100 others(6): Show |
9 | HG01257.hp1 HG02129.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.769+1562A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194426 | |||||||
| chr14:73194435 | T | A | 1 | a0001c0001t0001g0085 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.769+1571T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194435 | |||||||
| chr14:73194439 | T | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.769+1575T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194439 | |||||||
| chr14:73194499 | G | T | 1 | a0001c0001t0010g0061 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.769+1635G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194499 | |||||||
| chr14:73194528 | TG | T | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.769+1667delG | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73194528 | ||||||
| chr14:73194566 | C | CT | 20 | a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0054 others(17): Show |
20 | HG01358.hp1 HG01496.hp2 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.769+1721dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73194566 | ||||||
| chr14:73194566 | CT | C | 61 | a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0111 others(58): Show |
62 | HG00140.hp2 HG00423.hp1 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.769+1721delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73194566 | ||||||
| chr14:73194629 | C | T | 1 | a0001c0001t0005g0171 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.769+1765C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194629 | |||||||
| chr14:73194657 | C | T | 1 | a0001c0001t0003g0208 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.769+1793C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194657 | |||||||
| chr14:73194729 | C | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.769+1865C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194729 | |||||||
| chr14:73194819 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.769+1955C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194819 | |||||||
| chr14:73194820 | G | A | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.769+1956G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194820 | |||||||
| chr14:73194822 | C | A | 1 | a0001c0001t0004g0290 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.769+1958C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194822 | |||||||
| chr14:73194995 | T | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.769+2131T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73194995 | |||||||
| chr14:73195139 | C | T | 1 | a0001c0001t0004g0254 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.769+2275C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195139 | |||||||
| chr14:73195209 | G | A | 1 | a0001c0001t0002g0325 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.769+2345G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195209 | |||||||
| chr14:73195261 | C | T | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.769+2397C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195261 | |||||||
| chr14:73195457 | A | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.770-2574A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195457 | |||||||
| chr14:73195611 | A | T | 4 | a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0083 others(1): Show |
4 | HG01934.hp1 HG01952.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.770-2420A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195611 | |||||||
| chr14:73195651 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.770-2380G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195651 | |||||||
| chr14:73195660 | T | C | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.770-2371T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195660 | |||||||
| chr14:73195761 | T | C | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.770-2270T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195761 | |||||||
| chr14:73195921 | C | T | 81 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(78): Show |
81 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.770-2110C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73195921 | |||||||
| chr14:73196049 | G | C | 32 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(29): Show |
32 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(29): Show |
intron_variant | MODIFIER | c.770-1982G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196049 | |||||||
| chr14:73196100 | G | A | 6 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(3): Show |
6 | HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.770-1931G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196100 | |||||||
| chr14:73196383 | GTACTA | G | 3 | a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0351 |
3 | HG01106.hp1 HG01516.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.770-1645_770-1641d others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196383 | ||||||
| chr14:73196413 | CTATAT | C | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.770-1611_770-1607d others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196413 | ||||||
| chr14:73196474 | A | AT | 62 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(59): Show |
62 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.770-1532dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196474 | ||||||
| chr14:73196474 | A | ATT | 26 | a0001c0001t0004g0238 a0001c0001t0006g0127 a0001c0001t0006g0139 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.770-1533_770-1532d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196474 | ||||||
| chr14:73196474 | AT | A | 56 | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0086 others(53): Show |
57 | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.770-1532delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196474 | ||||||
| chr14:73196535 | G | A | 1 | a0001c0001t0001g0013 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.770-1496G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196535 | |||||||
| chr14:73196663 | C | T | 51 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0144 others(48): Show |
52 | HG00323.hp2 HG00423.hp2 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.770-1368C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196663 | |||||||
| chr14:73196712 | T | C | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00408.hp1 HG00544.hp2 HG01074.hp2 others(22): Show |
intron_variant | MODIFIER | c.770-1319T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196712 | |||||||
| chr14:73196767 | G | A | 1 | a0001c0001t0003g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.770-1264G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196767 | |||||||
| chr14:73196802 | A | G | 1 | a0001c0001t0006g0256 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.770-1229A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196802 | |||||||
| chr14:73196928 | CTTTCT | C | 18 | a0001c0001t0006g0127 a0001c0001t0006g0147 a0001c0001t0006g0256 others(15): Show |
18 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.770-1099_770-1095d others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196928 | ||||||
| chr14:73196932 | C | CT | 18 | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0098 others(15): Show |
18 | HG01169.hp2 HG01243.hp1 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.770-1081dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196932 | ||||||
| chr14:73196932 | CT | C | 15 | a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0066 others(12): Show |
15 | HG00558.hp1 HG01167.hp1 HG01943.hp1 others(12): Show |
intron_variant | MODIFIER | c.770-1081delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73196932 | ||||||
| chr14:73196936 | T | C | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.770-1095T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73196936 | |||||||
| chr14:73197005 | G | T | 1 | a0001c0001t0008g0121 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.770-1026G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197005 | |||||||
| chr14:73197057 | C | T | 1 | a0001c0001t0025g0268 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.770-974C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197057 | |||||||
| chr14:73197058 | G | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.770-973G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197058 | |||||||
| chr14:73197135 | G | A | 1 | a0001c0001t0011g0306 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.770-896G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197135 | |||||||
| chr14:73197137 | G | T | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.770-894G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197137 | |||||||
| chr14:73197144 | A | G | 9 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(6): Show |
9 | HG01496.hp2 HG01884.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.770-887A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197144 | |||||||
| chr14:73197154 | T | C | 8 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 others(5): Show |
8 | HG01496.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.770-877T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197154 | |||||||
| chr14:73197175 | C | T | 1 | a0001c0001t0004g0240 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.770-856C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197175 | |||||||
| chr14:73197224 | C | T | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.770-807C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197224 | |||||||
| chr14:73197238 | G | T | 43 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(40): Show |
43 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.770-793G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197238 | |||||||
| chr14:73197277 | T | C | 2 | a0001c0001t0008g0105 a0001c0001t0008g0106 |
2 | HG00323.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.770-754T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197277 | |||||||
| chr14:73197308 | A | G | 1 | a0001c0001t0002g0314 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.770-723A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197308 | |||||||
| chr14:73197636 | G | A | 6 | a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 others(3): Show |
6 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.770-395G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197636 | |||||||
| chr14:73197703 | CTA | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.770-326_770-325del others(2): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | 73197703 | ||||||
| chr14:73197833 | C | T | 2 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | HG00733.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.770-198C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73197833 | |||||||
| chr14:73198010 | T | C | 4 | a0001c0001t0005g0101 a0001c0001t0005g0120 a0001c0001t0005g0180 others(1): Show |
4 | HG01069.hp2 HG01071.hp2 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.770-21T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | chr14 | 73198010 | |||||||
| chr14:73198145 | G | T | 249 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(246): Show |
251 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(248): Show |
intron_variant | MODIFIER | c.868+16G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198145 | |||||||
| chr14:73198230 | T | C | 1 | a0001c0001t0005g0166 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.868+101T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198230 | |||||||
| chr14:73198349 | T | C | 1 | a0001c0001t0004g0293 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.868+220T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198349 | |||||||
| chr14:73198544 | T | C | 1 | a0001c0001t0003g0213 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.868+415T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198544 | |||||||
| chr14:73198646 | G | A | 97 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(94): Show |
98 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.868+517G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198646 | |||||||
| chr14:73198709 | C | G | 42 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(39): Show |
42 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(39): Show |
intron_variant | MODIFIER | c.868+580C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198709 | |||||||
| chr14:73198725 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.868+596G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198725 | |||||||
| chr14:73198833 | G | C | 3 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0368 |
3 | HG01891.hp1 HG02145.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.868+704G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198833 | |||||||
| chr14:73198859 | G | A | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.868+730G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198859 | |||||||
| chr14:73198914 | C | T | 3 | a0001c0001t0003g0126 a0001c0001t0003g0213 a0001c0001t0003g0228 |
3 | HG02129.hp1 HG02280.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.868+785C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73198914 | |||||||
| chr14:73199101 | T | C | 1 | a0001c0001t0004g0293 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.868+972T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199101 | |||||||
| chr14:73199180 | C | T | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.868+1051C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199180 | |||||||
| chr14:73199228 | T | C | 3 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0368 |
3 | HG01891.hp1 HG02145.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.868+1099T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199228 | |||||||
| chr14:73199387 | G | A | 1 | a0001c0001t0003g0203 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.868+1258G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199387 | |||||||
| chr14:73199777 | G | A | 1 | a0001c0001t0002g0314 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.868+1648G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199777 | |||||||
| chr14:73199832 | G | A | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.868+1703G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199832 | |||||||
| chr14:73199967 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.868+1838G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73199967 | |||||||
| chr14:73200196 | A | G | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.868+2067A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200196 | |||||||
| chr14:73200278 | T | G | 1 | a0001c0001t0001g0078 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.868+2149T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200278 | |||||||
| chr14:73200377 | C | G | 24 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.868+2248C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200377 | |||||||
| chr14:73200475 | G | A | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.868+2346G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200475 | |||||||
| chr14:73200513 | C | T | 1 | a0001c0001t0001g0149 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.868+2384C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200513 | |||||||
| chr14:73200636 | G | A | 2 | a0001c0001t0015g0300 a0001c0001t0015g0301 |
2 | HG01081.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.868+2507G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200636 | |||||||
| chr14:73200724 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.868+2595A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200724 | |||||||
| chr14:73200729 | T | C | 2 | a0001c0001t0015g0300 a0001c0001t0015g0301 |
2 | HG01081.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.868+2600T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200729 | |||||||
| chr14:73200747 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0073 |
3 | HG01256.hp1 HG01928.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.868+2618A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200747 | |||||||
| chr14:73200825 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0040 |
2 | HG02074.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.868+2696C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200825 | |||||||
| chr14:73200929 | T | C | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.868+2800T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73200929 | |||||||
| chr14:73201059 | A | G | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.868+2930A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201059 | |||||||
| chr14:73201075 | T | TTTTG | 10 | a0001c0001t0002g0184 a0001c0001t0002g0258 a0001c0001t0002g0259 others(7): Show |
10 | HG01192.hp2 HG02027.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.868+2976_868+2979d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73201075 | ||||||
| chr14:73201075 | T | TTTTGTTT others(1): Show |
6 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0265 others(3): Show |
6 | HG01496.hp2 HG01884.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.868+2972_868+2979d others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73201075 | ||||||
| chr14:73201075 | TTTTG | T | 50 | a0001c0001t0002g0349 a0001c0001t0004g0290 a0001c0001t0004g0291 others(47): Show |
50 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(47): Show |
intron_variant | MODIFIER | c.868+2976_868+2979d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73201075 | ||||||
| chr14:73201079 | G | A | 55 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(52): Show |
56 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.868+2950G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201079 | |||||||
| chr14:73201173 | C | T | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.868+3044C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201173 | |||||||
| chr14:73201240 | G | A | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.868+3111G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201240 | |||||||
| chr14:73201244 | C | T | 1 | a0001c0001t0001g0024 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.868+3115C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201244 | |||||||
| chr14:73201248 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.868+3119C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201248 | |||||||
| chr14:73201249 | G | A | 2 | a0001c0001t0008g0105 a0001c0001t0008g0106 |
2 | HG00323.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.868+3120G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201249 | |||||||
| chr14:73201268 | A | G | 3 | a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0189 |
3 | NA18612.hp2 NA18959.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.868+3139A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201268 | |||||||
| chr14:73201375 | C | T | 1 | a0001c0001t0001g0074 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.868+3246C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201375 | |||||||
| chr14:73201415 | A | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.868+3286A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201415 | |||||||
| chr14:73201588 | T | C | 1 | a0001c0001t0002g0363 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.868+3459T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201588 | |||||||
| chr14:73201760 | T | A | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.868+3631T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73201760 | |||||||
| chr14:73202016 | G | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.868+3887G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202016 | |||||||
| chr14:73202109 | A | G | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.868+3980A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202109 | |||||||
| chr14:73202131 | A | G | 33 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(30): Show |
33 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(30): Show |
intron_variant | MODIFIER | c.868+4002A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202131 | |||||||
| chr14:73202191 | T | C | 1 | a0001c0001t0003g0123 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.868+4062T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202191 | |||||||
| chr14:73202211 | A | AT | 242 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(239): Show |
244 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(241): Show |
intron_variant | MODIFIER | c.868+4092dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202211 | ||||||
| chr14:73202224 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.868+4095A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202224 | |||||||
| chr14:73202313 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-4073T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202313 | |||||||
| chr14:73202366 | A | C | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-4020A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202366 | |||||||
| chr14:73202406 | A | C | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-3980A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202406 | |||||||
| chr14:73202417 | ACTATATA others(3): Show |
A | 1 | a0001c0001t0015g0300 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.869-3968_869-3959d others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202417 | |||||||
| chr14:73202417 | ACTATATA others(7): Show |
A | 4 | a0001c0001t0006g0139 a0001c0001t0006g0147 a0001c0001t0006g0270 others(1): Show |
4 | HG02738.hp1 HG03942.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.869-3968_869-3955d others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202417 | |||||||
| chr14:73202417 | ACTATATA others(9): Show |
A | 1 | a0001c0001t0006g0283 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.869-3968_869-3953d others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202417 | |||||||
| chr14:73202417 | ACTATATA others(11): Show |
A | 3 | a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0369 |
3 | HG02055.hp2 HG02717.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.869-3968_869-3951d others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202417 | |||||||
| chr14:73202417 | ACTATATA others(13): Show |
A | 3 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0192 |
3 | HG01261.hp2 NA18944.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.869-3968_869-3949d others(22): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202417 | |||||||
| chr14:73202418 | C | CTA | 20 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0022 others(17): Show |
20 | HG00558.hp2 HG01069.hp1 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.869-3924_869-3923d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATA | 10 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0032 others(7): Show |
10 | HG00733.hp2 HG01167.hp2 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.869-3926_869-3923d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATA | 4 | a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0072 others(1): Show |
4 | HG00741.hp2 HG01952.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.869-3928_869-3923d others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATAT others(1): Show |
4 | a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0002g0279 others(1): Show |
4 | HG01123.hp1 HG01884.hp1 HG02071.hp2 others(1): Show |
intron_variant | MODIFIER | c.869-3930_869-3923d others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATAT others(3): Show |
1 | a0001c0001t0001g0056 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.869-3932_869-3923d others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATAT others(5): Show |
1 | a0001c0001t0002g0265 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.869-3934_869-3923d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATAT others(7): Show |
1 | a0001c0001t0016g0278 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.869-3936_869-3923d others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | CTATATAT others(9): Show |
1 | a0001c0001t0001g0037 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.869-3938_869-3923d others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | C | T | 30 | a0001c0001t0006g0127 a0001c0001t0006g0256 a0001c0001t0006g0271 others(27): Show |
30 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(27): Show |
intron_variant | MODIFIER | c.869-3968C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202418 | |||||||
| chr14:73202418 | CTA | C | 24 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(21): Show |
24 | HG00423.hp2 HG01433.hp1 HG02683.hp1 others(21): Show |
intron_variant | MODIFIER | c.869-3924_869-3923d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | CTATATA | C | 6 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show |
6 | HG02258.hp1 HG02258.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-3928_869-3923d others(8): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | CTATATAT others(3): Show |
C | 1 | a0001c0001t0030g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.869-3932_869-3923d others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | CTATATAT others(5): Show |
C | 1 | a0001c0001t0002g0140 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.869-3934_869-3923d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | CTATATAT others(7): Show |
C | 2 | a0001c0001t0004g0142 a0001c0001t0004g0236 |
2 | HG02132.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.869-3936_869-3923d others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202418 | CTATATAT others(19): Show |
C | 4 | a0001c0001t0003g0195 a0001c0001t0003g0202 a0001c0001t0003g0312 others(1): Show |
4 | HG03139.hp1 HG03453.hp1 NA18962.hp2 others(1): Show |
intron_variant | MODIFIER | c.869-3948_869-3923d others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202418 | ||||||
| chr14:73202420 | A | T | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-3966A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202420 | |||||||
| chr14:73202426 | A | T | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-3960A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202426 | |||||||
| chr14:73202428 | A | T | 1 | a0001c0001t0015g0300 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.869-3958A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202428 | |||||||
| chr14:73202432 | A | T | 4 | a0001c0001t0006g0139 a0001c0001t0006g0147 a0001c0001t0006g0270 others(1): Show |
4 | HG02738.hp1 HG03942.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.869-3954A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202432 | |||||||
| chr14:73202432 | ATATATAT others(28): Show |
A | 1 | a0001c0001t0004g0100 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.869-3952_869-3918d others(37): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202432 | ||||||
| chr14:73202434 | A | T | 1 | a0001c0001t0006g0283 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.869-3952A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202434 | |||||||
| chr14:73202434 | ATATATAT others(28): Show |
A | 1 | a0001c0001t0004g0115 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.869-3950_869-3916d others(37): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202434 | ||||||
| chr14:73202435 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-3951T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202435 | |||||||
| chr14:73202436 | A | T | 3 | a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0369 |
3 | HG02055.hp2 HG02717.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.869-3950A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202436 | |||||||
| chr14:73202436 | ATATATAT others(20): Show |
A | 3 | a0001c0001t0003g0125 a0001c0001t0003g0198 a0001c0001t0003g0217 |
3 | HG01346.hp2 HG02698.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.869-3948_869-3922d others(29): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202436 | ||||||
| chr14:73202436 | ATATATAT others(21): Show |
A | 5 | a0001c0001t0003g0150 a0001c0001t0003g0205 a0001c0001t0003g0302 others(2): Show |
5 | HG02109.hp1 HG02647.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.869-3948_869-3921d others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202436 | ||||||
| chr14:73202436 | ATATATAT others(22): Show |
A | 1 | a0001c0001t0004g0303 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.869-3948_869-3920d others(31): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202436 | ||||||
| chr14:73202437 | TATATATA others(16): Show |
T | 1 | a0001c0001t0002g0347 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.869-3948_869-3926d others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202437 | |||||||
| chr14:73202438 | A | T | 3 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0192 |
3 | HG01261.hp2 NA18944.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.869-3948A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202438 | |||||||
| chr14:73202438 | ATATATAT others(19): Show |
A | 15 | a0001c0001t0003g0003 a0001c0001t0003g0201 a0001c0001t0003g0204 others(12): Show |
16 | HG02818.hp1 HG02922.hp2 HG03540.hp1 others(13): Show |
intron_variant | MODIFIER | c.869-3946_869-3921d others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202438 | ||||||
| chr14:73202438 | ATATATAT others(20): Show |
A | 16 | a0001c0001t0003g0107 a0001c0001t0003g0193 a0001c0001t0003g0206 others(13): Show |
16 | HG00642.hp1 HG01433.hp2 HG02040.hp1 others(13): Show |
intron_variant | MODIFIER | c.869-3946_869-3920d others(29): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202438 | ||||||
| chr14:73202438 | ATATATAT others(21): Show |
A | 3 | a0001c0001t0003g0199 a0001c0001t0003g0220 a0001c0001t0003g0297 |
3 | HG00140.hp2 HG00639.hp2 HG02015.hp1 |
intron_variant | MODIFIER | c.869-3946_869-3919d others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202438 | ||||||
| chr14:73202438 | ATATATAT others(23): Show |
A | 1 | a0001c0001t0017g0267 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.869-3946_869-3917d others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202438 | ||||||
| chr14:73202438 | ATATATAT others(34): Show |
A | 4 | a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 others(1): Show |
4 | HG00423.hp1 HG02155.hp1 NA18954.hp1 others(1): Show |
intron_variant | MODIFIER | c.869-3946_869-3906d others(43): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202438 | ||||||
| chr14:73202439 | TATATATA others(16): Show |
T | 1 | a0001c0001t0002g0353 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.869-3946_869-3924d others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202439 | |||||||
| chr14:73202440 | ATATATAT others(19): Show |
A | 2 | a0001c0001t0003g0126 a0003c0003t0003g0365 |
2 | HG02129.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.869-3944_869-3919d others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202440 | ||||||
| chr14:73202440 | ATATATAT others(20): Show |
A | 4 | a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0009g0197 others(1): Show |
4 | HG01070.hp1 HG01192.hp1 NA18939.hp2 others(1): Show |
intron_variant | MODIFIER | c.869-3944_869-3918d others(29): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202440 | ||||||
| chr14:73202440 | ATATATAT others(23): Show |
A | 1 | a0001c0001t0017g0194 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.869-3944_869-3915d others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202440 | ||||||
| chr14:73202441 | TATATATA others(6): Show |
T | 1 | a0001c0001t0006g0281 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869-3944_869-3932d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202441 | |||||||
| chr14:73202441 | TATATATA others(8): Show |
T | 4 | a0001c0001t0006g0256 a0001c0001t0006g0271 a0001c0001t0006g0280 others(1): Show |
4 | HG03704.hp2 NA18947.hp2 NA18965.hp1 others(1): Show |
intron_variant | MODIFIER | c.869-3944_869-3930d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202441 | |||||||
| chr14:73202441 | TATATATA others(12): Show |
T | 1 | a0001c0001t0008g0191 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.869-3944_869-3926d others(21): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202441 | |||||||
| chr14:73202442 | ATATATAT others(16): Show |
A | 2 | a0001c0001t0027g0305 a0001c0004t0020g0311 |
2 | HG01074.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.869-3942_869-3920d others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202442 | ||||||
| chr14:73202443 | TATATATA others(6): Show |
T | 2 | a0001c0001t0006g0127 a0001c0001t0006g0276 |
2 | HG00544.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.869-3942_869-3930d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202443 | |||||||
| chr14:73202443 | TATATATA others(8): Show |
T | 4 | a0001c0001t0006g0272 a0001c0001t0006g0274 a0001c0001t0006g0275 others(1): Show |
4 | HG01975.hp1 NA18747.hp2 NA18974.hp2 others(1): Show |
intron_variant | MODIFIER | c.869-3942_869-3928d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202443 | |||||||
| chr14:73202444 | ATATATAT others(12): Show |
A | 1 | a0001c0001t0007g0288 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.869-3940_869-3922d others(21): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202444 | ||||||
| chr14:73202444 | ATATATAT others(17): Show |
A | 1 | a0001c0001t0001g0069 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.869-3940_869-3917d others(26): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202444 | ||||||
| chr14:73202445 | TATATATA others(6): Show |
T | 1 | a0001c0001t0022g0143 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.869-3940_869-3928d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202445 | |||||||
| chr14:73202445 | TATATATA others(10): Show |
T | 1 | a0001c0001t0007g0154 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.869-3940_869-3924d others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202445 | |||||||
| chr14:73202446 | A | C | 1 | a0001c0001t0001g0086 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.869-3940A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202446 | |||||||
| chr14:73202446 | ATATATAT others(10): Show |
A | 2 | a0001c0001t0007g0155 a0001c0001t0007g0156 |
2 | HG01243.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.869-3938_869-3922d others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202446 | ||||||
| chr14:73202446 | ATATATAT others(11): Show |
A | 4 | a0001c0001t0002g0326 a0001c0001t0007g0287 a0001c0001t0007g0289 others(1): Show |
4 | HG01256.hp2 HG02615.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.869-3938_869-3921d others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202446 | ||||||
| chr14:73202447 | TATATATA others(4): Show |
T | 3 | a0001c0001t0011g0308 a0001c0001t0011g0309 a0001c0001t0019g0310 |
3 | HG02486.hp1 NA18906.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.869-3938_869-3928d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202447 | |||||||
| chr14:73202447 | TATATATA others(8): Show |
T | 2 | a0001c0001t0007g0153 a0001c0001t0029g0132 |
2 | HG02451.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.869-3938_869-3924d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202447 | |||||||
| chr14:73202448 | ATATATAT others(11): Show |
A | 1 | a0001c0001t0001g0051 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.869-3936_869-3919d others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202448 | ||||||
| chr14:73202449 | TATATATA others(4): Show |
T | 2 | a0001c0001t0011g0306 a0001c0001t0011g0307 |
2 | HG02809.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.869-3936_869-3926d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202449 | |||||||
| chr14:73202449 | TATATATA others(6): Show |
T | 1 | a0001c0001t0002g0102 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.869-3936_869-3924d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202449 | |||||||
| chr14:73202450 | ATATATAT others(6): Show |
A | 2 | a0001c0001t0002g0144 a0001c0001t0002g0145 |
2 | HG00735.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.869-3934_869-3922d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202450 | ||||||
| chr14:73202451 | TATATATA others(4): Show |
T | 2 | a0001c0001t0002g0146 a0001c0001t0015g0301 |
2 | HG00738.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.869-3934_869-3924d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202451 | |||||||
| chr14:73202452 | ATATATAT others(4): Show |
A | 2 | a0001c0001t0001g0249 a0001c0001t0002g0359 |
2 | HG01891.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.869-3932_869-3922d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202452 | ||||||
| chr14:73202452 | ATATATAT others(6): Show |
A | 1 | a0001c0001t0001g0232 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.869-3932_869-3920d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202452 | ||||||
| chr14:73202454 | A | T | 2 | a0001c0001t0002g0261 a0001c0001t0004g0236 |
2 | HG02132.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.869-3932A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202454 | |||||||
| chr14:73202454 | ATATATAT others(3): Show |
A | 2 | a0001c0001t0001g0231 a0001c0001t0001g0248 |
2 | HG02895.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.869-3930_869-3921d others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202454 | ||||||
| chr14:73202454 | ATATATAT others(4): Show |
A | 1 | a0001c0001t0001g0230 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.869-3930_869-3920d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202454 | ||||||
| chr14:73202454 | ATATATAT others(8): Show |
A | 1 | a0001c0001t0005g0172 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.869-3930_869-3916d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202454 | ||||||
| chr14:73202456 | A | T | 6 | a0001c0001t0002g0261 a0001c0001t0004g0236 a0001c0001t0005g0159 others(3): Show |
6 | HG00408.hp1 HG00423.hp2 HG02132.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-3930A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202456 | |||||||
| chr14:73202456 | ATATATAT others(10): Show |
A | 1 | a0001c0001t0005g0002 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.869-3928_869-3912d others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202456 | ||||||
| chr14:73202457 | TA | T | 6 | a0001c0001t0001g0091 a0001c0001t0002g0184 a0001c0001t0005g0165 others(3): Show |
6 | HG02132.hp1 HG02135.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.869-3928delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202457 | |||||||
| chr14:73202458 | A | T | 24 | a0001c0001t0001g0034 a0001c0001t0002g0257 a0001c0001t0002g0261 others(21): Show |
24 | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(21): Show |
intron_variant | MODIFIER | c.869-3928A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202458 | |||||||
| chr14:73202460 | A | AT | 3 | a0001c0001t0001g0088 a0001c0001t0002g0332 a0001c0001t0005g0186 |
3 | HG02027.hp2 NA18947.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.869-3925dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202460 | ||||||
| chr14:73202460 | A | ATT | 5 | a0001c0001t0001g0021 a0001c0001t0001g0133 a0001c0001t0005g0120 others(2): Show |
5 | HG01069.hp2 HG01071.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.869-3925_869-3924i others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202460 | ||||||
| chr14:73202460 | A | ATTT | 5 | a0001c0001t0002g0323 a0001c0001t0004g0251 a0001c0001t0004g0254 others(2): Show |
5 | HG01106.hp1 HG01361.hp2 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-3925_869-3924i others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202460 | ||||||
| chr14:73202460 | A | T | 54 | a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0104 others(51): Show |
54 | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.869-3926A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202460 | |||||||
| chr14:73202462 | A | ATAT | 6 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 others(3): Show |
6 | HG00408.hp2 HG01928.hp2 HG02080.hp1 others(3): Show |
intron_variant | MODIFIER | c.869-3923_869-3922i others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(4): Show |
1 | a0001c0001t0002g0325 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.869-3923_869-3922i others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(13): Show |
1 | a0001c0001t0004g0294 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.869-3923_869-3922i others(22): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(11): Show |
1 | a0001c0001t0004g0240 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.869-3923_869-3922i others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(9): Show |
1 | a0001c0001t0004g0235 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.869-3923_869-3922i others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(10): Show |
1 | a0001c0001t0004g0242 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.869-3923_869-3922i others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(3): Show |
2 | a0001c0001t0004g0234 a0001c0001t0005g0175 |
2 | HG03710.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.869-3923_869-3922i others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(7): Show |
1 | a0001c0001t0004g0245 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.869-3923_869-3922i others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(8): Show |
1 | a0001c0001t0004g0246 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.869-3923_869-3922i others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(3): Show |
1 | a0001c0001t0001g0112 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.869-3923_869-3922i others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(4): Show |
3 | a0001c0001t0001g0109 a0001c0001t0004g0004 a0001c0001t0004g0007 |
3 | HG01243.hp1 HG01943.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.869-3923_869-3922i others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATAT others(5): Show |
3 | a0001c0001t0004g0243 a0001c0001t0004g0296 a0001c0001t0005g0173 |
3 | HG02027.hp1 HG03942.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.869-3923_869-3922i others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATTT others(3): Show |
3 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0004g0247 |
3 | HG00733.hp1 HG01106.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.869-3923_869-3922i others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATATATTT others(5): Show |
1 | a0001c0001t0004g0006 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.869-3923_869-3922i others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | ATTTTTTT others(4): Show |
1 | a0001c0001t0004g0005 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.869-3904_869-3894d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202462 | A | T | 93 | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0060 others(90): Show |
93 | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(90): Show |
intron_variant | MODIFIER | c.869-3924A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202462 | |||||||
| chr14:73202462 | ATT | A | 8 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 others(5): Show |
8 | HG00738.hp1 HG02683.hp2 NA18943.hp2 others(5): Show |
intron_variant | MODIFIER | c.869-3895_869-3894d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73202462 | ||||||
| chr14:73202463 | T | TA | 6 | a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0002g0358 others(3): Show |
6 | HG00642.hp2 HG01099.hp1 HG02071.hp1 others(3): Show |
intron_variant | MODIFIER | c.869-3923_869-3922i others(3): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202463 | |||||||
| chr14:73202463 | T | TATA | 3 | a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0005g0116 |
3 | HG00609.hp2 NA19077.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.869-3923_869-3922i others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202463 | |||||||
| chr14:73202463 | T | TATATA | 5 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0063 others(2): Show |
5 | HG00323.hp1 HG01169.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.869-3923_869-3922i others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202463 | |||||||
| chr14:73202464 | T | A | 38 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(35): Show |
38 | HG00140.hp1 HG00558.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.869-3922T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202464 | |||||||
| chr14:73202465 | T | A | 8 | a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0065 others(5): Show |
8 | HG00642.hp2 HG01099.hp1 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.869-3921T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202465 | |||||||
| chr14:73202466 | T | A | 18 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 others(15): Show |
18 | HG00558.hp2 HG00609.hp1 HG02074.hp2 others(15): Show |
intron_variant | MODIFIER | c.869-3920T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202466 | |||||||
| chr14:73202467 | T | A | 1 | a0001c0001t0001g0065 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.869-3919T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202467 | |||||||
| chr14:73202468 | T | A | 5 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0040 others(2): Show |
5 | HG00558.hp2 HG02074.hp2 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-3918T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202468 | |||||||
| chr14:73202469 | T | A | 1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.869-3917T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202469 | |||||||
| chr14:73202470 | T | A | 3 | a0001c0001t0001g0040 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG02155.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.869-3916T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202470 | |||||||
| chr14:73202471 | T | A | 1 | a0001c0001t0016g0266 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.869-3915T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202471 | |||||||
| chr14:73202472 | T | A | 1 | a0001c0001t0016g0278 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.869-3914T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202472 | |||||||
| chr14:73202498 | A | C | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-3888A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202498 | |||||||
| chr14:73202534 | G | A | 1 | a0001c0001t0005g0166 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.869-3852G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202534 | |||||||
| chr14:73202628 | A | G | 3 | a0001c0001t0004g0142 a0001c0001t0029g0132 a0001c0001t0030g0167 |
3 | HG02257.hp2 HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.869-3758A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202628 | |||||||
| chr14:73202693 | C | T | 8 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(5): Show |
8 | HG00733.hp1 HG01106.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.869-3693C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202693 | |||||||
| chr14:73202804 | T | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-3582T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202804 | |||||||
| chr14:73202829 | A | G | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.869-3557A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73202829 | |||||||
| chr14:73203319 | C | T | 8 | a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 others(5): Show |
8 | HG00558.hp2 HG02015.hp2 HG02071.hp1 others(5): Show |
intron_variant | MODIFIER | c.869-3067C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73203319 | |||||||
| chr14:73203419 | T | TTTTTTCT others(4): Show |
1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.869-2950_869-2940d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73203419 | ||||||
| chr14:73203577 | C | T | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.869-2809C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73203577 | |||||||
| chr14:73203785 | C | A | 1 | a0001c0001t0003g0202 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.869-2601C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73203785 | |||||||
| chr14:73203899 | A | G | 1 | a0001c0001t0004g0247 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.869-2487A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73203899 | |||||||
| chr14:73204061 | C | T | 1 | a0001c0001t0003g0304 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.869-2325C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204061 | |||||||
| chr14:73204084 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.869-2302C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204084 | |||||||
| chr14:73204097 | C | G | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-2289C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204097 | |||||||
| chr14:73204111 | G | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.869-2275G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204111 | |||||||
| chr14:73204251 | G | A | 34 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(31): Show |
34 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.869-2135G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204251 | |||||||
| chr14:73204253 | C | T | 1 | a0001c0001t0004g0303 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.869-2133C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204253 | |||||||
| chr14:73204297 | C | CT | 24 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.869-2074dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73204297 | ||||||
| chr14:73204321 | C | T | 30 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(27): Show |
30 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.869-2065C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204321 | |||||||
| chr14:73204382 | T | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-2004T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204382 | |||||||
| chr14:73204386 | TA | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-1993delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73204386 | ||||||
| chr14:73204387 | A | T | 1 | a0001c0001t0003g0220 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.869-1999A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204387 | |||||||
| chr14:73204471 | A | G | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-1915A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204471 | |||||||
| chr14:73204474 | A | G | 27 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(24): Show |
27 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(24): Show |
intron_variant | MODIFIER | c.869-1912A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204474 | |||||||
| chr14:73204528 | T | TAA | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.869-1844_869-1843d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73204528 | ||||||
| chr14:73204528 | TA | T | 65 | a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0086 others(62): Show |
66 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(63): Show |
intron_variant | MODIFIER | c.869-1843delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73204528 | ||||||
| chr14:73204597 | T | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-1789T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204597 | |||||||
| chr14:73204794 | T | C | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.869-1592T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204794 | |||||||
| chr14:73204808 | G | A | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-1578G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204808 | |||||||
| chr14:73204847 | G | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.869-1539G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204847 | |||||||
| chr14:73204900 | A | G | 2 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | HG00733.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.869-1486A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204900 | |||||||
| chr14:73204937 | T | G | 1 | a0001c0001t0012g0187 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.869-1449T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73204937 | |||||||
| chr14:73205091 | A | C | 1 | a0001c0001t0002g0259 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.869-1295A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205091 | |||||||
| chr14:73205135 | T | A | 26 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(23): Show |
26 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(23): Show |
intron_variant | MODIFIER | c.869-1251T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205135 | |||||||
| chr14:73205198 | C | T | 1 | a0001c0001t0028g0292 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.869-1188C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205198 | |||||||
| chr14:73205203 | G | A | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.869-1183G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205203 | |||||||
| chr14:73205209 | G | T | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.869-1177G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205209 | |||||||
| chr14:73205215 | G | A | 15 | a0001c0001t0003g0003 a0001c0001t0003g0195 a0001c0001t0003g0201 others(12): Show |
16 | HG02074.hp1 HG02723.hp2 HG03453.hp2 others(13): Show |
intron_variant | MODIFIER | c.869-1171G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205215 | |||||||
| chr14:73205272 | C | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-1114C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205272 | |||||||
| chr14:73205285 | G | T | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.869-1101G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205285 | |||||||
| chr14:73205372 | G | A | 1 | a0001c0001t0030g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.869-1014G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205372 | |||||||
| chr14:73205407 | A | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.869-979A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205407 | |||||||
| chr14:73205411 | G | A | 49 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(46): Show |
50 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.869-975G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205411 | |||||||
| chr14:73205421 | G | A | 121 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
122 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(119): Show |
intron_variant | MODIFIER | c.869-965G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205421 | |||||||
| chr14:73205440 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.869-946C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205440 | |||||||
| chr14:73205478 | C | CA | 24 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 others(21): Show |
24 | HG00735.hp2 HG01175.hp2 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.869-885dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73205478 | ||||||
| chr14:73205478 | CA | C | 41 | a0001c0001t0001g0055 a0001c0001t0001g0231 a0001c0001t0002g0370 others(38): Show |
41 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.869-885delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | 73205478 | ||||||
| chr14:73205802 | T | A | 2 | a0001c0001t0017g0194 a0001c0001t0017g0267 |
2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.869-584T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205802 | |||||||
| chr14:73205815 | C | G | 5 | a0001c0001t0013g0335 a0001c0001t0013g0341 a0001c0001t0013g0352 others(2): Show |
5 | HG02683.hp1 HG02698.hp2 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.869-571C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205815 | |||||||
| chr14:73205820 | T | C | 2 | a0001c0001t0003g0150 a0001c0001t0003g0302 |
2 | HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.869-566T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205820 | |||||||
| chr14:73205873 | T | C | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.869-513T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73205873 | |||||||
| chr14:73206123 | C | A | 260 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(257): Show |
262 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(259): Show |
intron_variant | MODIFIER | c.869-263C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73206123 | |||||||
| chr14:73206159 | A | G | 2 | a0001c0001t0004g0142 a0001c0001t0029g0132 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.869-227A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73206159 | |||||||
| chr14:73206213 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.869-173C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73206213 | |||||||
| chr14:73206322 | T | G | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.869-64T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | 73206322 | |||||||
| chr14:73206498 | C | T | 1 | a0001c0001t0030g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.955+26C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73206498 | |||||||
| chr14:73206658 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.955+186A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73206658 | |||||||
| chr14:73206672 | T | C | 24 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.955+200T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73206672 | |||||||
| chr14:73206926 | C | T | 2 | a0001c0001t0002g0258 a0001c0001t0002g0259 |
2 | HG02809.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.955+454C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73206926 | |||||||
| chr14:73207116 | G | A | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.955+644G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207116 | |||||||
| chr14:73207128 | G | T | 30 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(27): Show |
30 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.955+656G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207128 | |||||||
| chr14:73207129 | C | A | 1 | a0001c0001t0005g0173 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.955+657C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207129 | |||||||
| chr14:73207652 | G | T | 14 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(11): Show |
14 | HG00323.hp2 HG01261.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.955+1180G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207652 | |||||||
| chr14:73207669 | A | G | 8 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(5): Show |
8 | HG00323.hp2 HG01261.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.955+1197A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207669 | |||||||
| chr14:73207750 | T | G | 66 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(63): Show |
66 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.955+1278T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207750 | |||||||
| chr14:73207903 | G | T | 1 | a0001c0001t0002g0362 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.955+1431G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73207903 | |||||||
| chr14:73208045 | TG | T | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.955+1577delG | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr14 | 73208045 | ||||||
| chr14:73208051 | A | G | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.955+1579A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208051 | |||||||
| chr14:73208133 | C | T | 1 | a0001c0001t0003g0217 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.955+1661C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208133 | |||||||
| chr14:73208150 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.955+1678C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208150 | |||||||
| chr14:73208191 | G | A | 3 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0025g0268 |
3 | HG01884.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.955+1719G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208191 | |||||||
| chr14:73208202 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.955+1730C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208202 | |||||||
| chr14:73208221 | G | A | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.955+1749G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208221 | |||||||
| chr14:73208242 | C | T | 121 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
122 | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(119): Show |
intron_variant | MODIFIER | c.955+1770C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208242 | |||||||
| chr14:73208309 | C | T | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.955+1837C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208309 | |||||||
| chr14:73208519 | A | G | 1 | a0001c0001t0028g0292 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.955+2047A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208519 | |||||||
| chr14:73208718 | A | G | 1 | a0001c0001t0004g0239 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.955+2246A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208718 | |||||||
| chr14:73208725 | C | T | 1 | a0001c0001t0003g0223 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.955+2253C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208725 | |||||||
| chr14:73208914 | C | T | 2 | a0001c0001t0013g0341 a0001c0001t0013g0352 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.955+2442C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208914 | |||||||
| chr14:73208995 | G | A | 15 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.955+2523G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73208995 | |||||||
| chr14:73209008 | C | T | 2 | a0001c0001t0008g0105 a0001c0001t0008g0106 |
2 | HG00323.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.955+2536C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209008 | |||||||
| chr14:73209040 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.955+2568A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209040 | |||||||
| chr14:73209099 | G | A | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.955+2627G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209099 | |||||||
| chr14:73209208 | G | A | 2 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | HG00140.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.956-2561G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209208 | |||||||
| chr14:73209286 | C | T | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.956-2483C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209286 | |||||||
| chr14:73209334 | G | A | 54 | a0001c0001t0003g0003 a0001c0001t0003g0107 a0001c0001t0003g0122 others(51): Show |
55 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.956-2435G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209334 | |||||||
| chr14:73209432 | A | G | 1 | a0001c0001t0001g0023 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.956-2337A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209432 | |||||||
| chr14:73209439 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.956-2330G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209439 | |||||||
| chr14:73209484 | C | T | 1 | a0001c0001t0003g0220 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.956-2285C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209484 | |||||||
| chr14:73209558 | C | A | 1 | a0001c0001t0008g0192 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.956-2211C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209558 | |||||||
| chr14:73209591 | C | T | 1 | a0001c0001t0002g0361 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.956-2178C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209591 | |||||||
| chr14:73209708 | G | A | 1 | a0001c0001t0002g0265 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.956-2061G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209708 | |||||||
| chr14:73209992 | C | A | 2 | a0001c0001t0004g0100 a0001c0001t0004g0115 |
2 | HG02622.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.956-1777C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73209992 | |||||||
| chr14:73210007 | T | C | 20 | a0001c0001t0005g0185 a0001c0001t0006g0127 a0001c0001t0006g0139 others(17): Show |
20 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.956-1762T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210007 | |||||||
| chr14:73210230 | G | A | 1 | a0001c0001t0001g0041 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.956-1539G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210230 | |||||||
| chr14:73210279 | A | G | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.956-1490A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210279 | |||||||
| chr14:73210284 | A | G | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.956-1485A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210284 | |||||||
| chr14:73210437 | C | CT | 3 | a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0351 |
3 | HG01106.hp1 HG01516.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.956-1329dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr14 | 73210437 | ||||||
| chr14:73210502 | G | A | 1 | a0001c0001t0003g0206 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.956-1267G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210502 | |||||||
| chr14:73210514 | T | C | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.956-1255T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210514 | |||||||
| chr14:73210514 | T | G | 1 | a0001c0001t0006g0139 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.956-1255T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210514 | |||||||
| chr14:73210796 | G | A | 1 | a0001c0001t0004g0243 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.956-973G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210796 | |||||||
| chr14:73210878 | T | C | 1 | a0001c0001t0001g0048 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.956-891T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210878 | |||||||
| chr14:73210894 | A | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.956-875A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210894 | |||||||
| chr14:73210989 | C | A | 1 | a0001c0001t0005g0173 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.956-780C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73210989 | |||||||
| chr14:73211001 | C | T | 5 | a0001c0001t0016g0266 a0001c0001t0016g0278 a0001c0001t0017g0194 others(2): Show |
5 | HG01884.hp2 HG02723.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.956-768C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211001 | |||||||
| chr14:73211227 | C | A | 2 | a0001c0001t0004g0290 a0001c0001t0004g0291 |
2 | HG03453.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.956-542C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211227 | |||||||
| chr14:73211255 | T | G | 261 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(258): Show |
263 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(260): Show |
intron_variant | MODIFIER | c.956-514T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211255 | |||||||
| chr14:73211360 | A | AT | 19 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show |
19 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.956-403dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr14 | 73211360 | ||||||
| chr14:73211461 | A | G | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.956-308A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211461 | |||||||
| chr14:73211505 | G | A | 21 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(18): Show |
21 | HG00323.hp2 HG01243.hp2 HG01261.hp2 others(18): Show |
intron_variant | MODIFIER | c.956-264G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211505 | |||||||
| chr14:73211552 | G | GA | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.956-217_956-216ins others(1): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 9/11 | chr14 | 73211552 | |||||||
| chr14:73212055 | T | C | 3 | a0001c0001t0017g0194 a0001c0001t0017g0267 a0001c0001t0027g0305 |
3 | HG01074.hp2 HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1129+113T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212055 | |||||||
| chr14:73212088 | C | CT | 36 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(33): Show |
37 | HG00738.hp1 HG00741.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.1129+187dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTT | 16 | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0034 others(13): Show |
16 | HG00609.hp1 HG00642.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.1129+186_1129+187d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTTTTTTT others(5): Show |
1 | a0001c0001t0001g0136 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1129+176_1129+187d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTTTTTTT others(7): Show |
3 | a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0002g0145 |
3 | HG00735.hp1 HG02717.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1129+174_1129+187d others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTTTTTTT others(8): Show |
2 | a0001c0001t0002g0144 a0001c0001t0029g0132 |
2 | HG03017.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1129+173_1129+187d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTTTTTTT others(10): Show |
2 | a0001c0001t0001g0135 a0001c0001t0002g0140 |
2 | HG01358.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.1129+171_1129+187d others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0137 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1129+170_1129+187d others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CT | C | 30 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.1129+187delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTT | C | 19 | a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0002g0338 others(16): Show |
19 | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.1129+186_1129+187d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTT | C | 16 | a0001c0001t0002g0325 a0001c0001t0003g0003 a0001c0001t0003g0122 others(13): Show |
17 | HG01070.hp1 HG01257.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.1129+185_1129+187d others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTT | C | 15 | a0001c0001t0001g0148 a0001c0001t0003g0123 a0001c0001t0003g0125 others(12): Show |
15 | HG00642.hp1 HG01192.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.1129+184_1129+187d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTT | C | 8 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0149 others(5): Show |
8 | HG02015.hp1 HG02630.hp2 HG02897.hp2 others(5): Show |
intron_variant | MODIFIER | c.1129+183_1129+187d others(7): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT | C | 6 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 others(3): Show |
6 | HG02109.hp2 HG02559.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1129+181_1129+187d others(9): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(1): Show |
C | 28 | a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0108 others(25): Show |
28 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.1129+180_1129+187d others(10): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(2): Show |
C | 17 | a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0003g0304 others(14): Show |
17 | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1129+179_1129+187d others(11): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(3): Show |
C | 3 | a0001c0001t0004g0004 a0001c0001t0004g0142 a0001c0001t0004g0250 |
3 | HG01070.hp2 HG01943.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1129+178_1129+187d others(12): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(4): Show |
C | 3 | a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0004t0020g0311 |
3 | HG02145.hp1 HG03579.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1129+177_1129+187d others(13): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(5): Show |
C | 2 | a0001c0001t0002g0368 a0001c0001t0005g0180 |
2 | HG01069.hp2 HG01891.hp1 |
intron_variant | MODIFIER | c.1129+176_1129+187d others(14): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(6): Show |
C | 19 | a0001c0001t0002g0184 a0001c0001t0002g0255 a0001c0001t0002g0257 others(16): Show |
19 | HG00423.hp2 HG02056.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1129+175_1129+187d others(15): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(7): Show |
C | 48 | a0001c0001t0002g0258 a0001c0001t0002g0265 a0001c0001t0002g0269 others(45): Show |
49 | HG00408.hp1 HG00544.hp2 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.1129+174_1129+187d others(16): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(8): Show |
C | 10 | a0001c0001t0001g0067 a0001c0001t0005g0185 a0001c0001t0007g0155 others(7): Show |
10 | HG01081.hp2 HG01243.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.1129+173_1129+187d others(17): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(9): Show |
C | 7 | a0001c0001t0007g0288 a0001c0001t0008g0105 a0001c0001t0008g0106 others(4): Show |
7 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.1129+172_1129+187d others(18): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(11): Show |
C | 1 | a0001c0001t0017g0267 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1129+170_1129+187d others(20): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(12): Show |
C | 3 | a0001c0001t0002g0318 a0001c0001t0017g0194 a0001c0001t0023g0321 |
3 | HG01361.hp1 HG02723.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.1129+169_1129+187d others(21): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(13): Show |
C | 2 | a0001c0001t0002g0316 a0001c0001t0027g0305 |
2 | HG01074.hp2 NA18973.hp2 |
intron_variant | MODIFIER | c.1129+168_1129+187d others(22): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(16): Show |
C | 3 | a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0085 |
3 | HG01934.hp1 NA18612.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.1129+165_1129+187d others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(18): Show |
C | 1 | a0001c0001t0001g0104 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1129+163_1129+187d others(27): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212088 | CTTTTTTT others(19): Show |
C | 2 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1129+162_1129+187d others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73212088 | ||||||
| chr14:73212094 | T | C | 1 | a0001c0001t0003g0298 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1129+152T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212094 | |||||||
| chr14:73212095 | T | C | 2 | a0001c0001t0003g0297 a0001c0001t0003g0299 |
2 | HG00140.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1129+153T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212095 | |||||||
| chr14:73212167 | A | G | 40 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(37): Show |
40 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(37): Show |
intron_variant | MODIFIER | c.1129+225A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212167 | |||||||
| chr14:73212184 | C | T | 1 | a0001c0001t0008g0190 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1129+242C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212184 | |||||||
| chr14:73212302 | G | C | 2 | a0001c0001t0003g0198 a0001c0001t0003g0199 |
2 | HG00639.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.1129+360G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212302 | |||||||
| chr14:73212347 | G | A | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1129+405G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212347 | |||||||
| chr14:73212466 | T | C | 1 | a0001c0001t0002g0332 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1129+524T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212466 | |||||||
| chr14:73212509 | A | G | 1 | a0001c0001t0003g0220 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1129+567A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212509 | |||||||
| chr14:73212512 | G | C | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1129+570G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212512 | |||||||
| chr14:73212690 | T | G | 1 | a0001c0001t0002g0356 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1129+748T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212690 | |||||||
| chr14:73212714 | T | C | 1 | a0001c0001t0004g0247 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1129+772T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212714 | |||||||
| chr14:73212852 | C | T | 40 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(37): Show |
40 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(37): Show |
intron_variant | MODIFIER | c.1129+910C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212852 | |||||||
| chr14:73212885 | G | A | 1 | a0001c0001t0004g0375 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1129+943G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212885 | |||||||
| chr14:73212993 | G | A | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.1129+1051G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73212993 | |||||||
| chr14:73213081 | A | G | 1 | a0001c0001t0003g0205 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1129+1139A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213081 | |||||||
| chr14:73213259 | C | A | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1129+1317C>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213259 | |||||||
| chr14:73213262 | T | C | 1 | a0001c0001t0001g0091 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1129+1320T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213262 | |||||||
| chr14:73213398 | C | G | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.1129+1456C>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213398 | |||||||
| chr14:73213412 | A | T | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1129+1470A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213412 | |||||||
| chr14:73213423 | A | T | 1 | a0001c0001t0027g0305 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1129+1481A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213423 | |||||||
| chr14:73213500 | G | A | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1129+1558G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213500 | |||||||
| chr14:73213746 | A | C | 9 | a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0274 others(6): Show |
9 | HG00408.hp1 HG01975.hp1 NA18747.hp2 others(6): Show |
intron_variant | MODIFIER | c.1129+1804A>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73213746 | |||||||
| chr14:73214389 | T | G | 40 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(37): Show |
40 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(37): Show |
intron_variant | MODIFIER | c.1129+2447T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73214389 | |||||||
| chr14:73214517 | C | T | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1129+2575C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73214517 | |||||||
| chr14:73214518 | G | A | 10 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(7): Show |
10 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1129+2576G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73214518 | |||||||
| chr14:73214530 | CA | C | 11 | a0001c0001t0002g0332 a0001c0001t0004g0290 a0001c0001t0004g0291 others(8): Show |
11 | HG01074.hp2 HG01884.hp2 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.1130-2579delA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73214530 | ||||||
| chr14:73214530 | CAA | C | 22 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(19): Show |
22 | HG00323.hp2 HG01243.hp2 HG01261.hp2 others(19): Show |
intron_variant | MODIFIER | c.1130-2580_1130-257 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73214530 | ||||||
| chr14:73214586 | T | C | 1 | a0001c0001t0001g0096 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1130-2540T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73214586 | |||||||
| chr14:73214673 | T | G | 41 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(38): Show |
41 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.1130-2453T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73214673 | |||||||
| chr14:73215228 | T | C | 1 | a0001c0001t0002g0355 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1130-1898T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215228 | |||||||
| chr14:73215268 | T | A | 3 | a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0208 |
3 | HG02074.hp1 NA18747.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.1130-1858T>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215268 | |||||||
| chr14:73215299 | T | C | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(22): Show |
intron_variant | MODIFIER | c.1130-1827T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215299 | |||||||
| chr14:73215476 | G | A | 4 | a0001c0001t0008g0121 a0001c0001t0008g0190 a0001c0001t0008g0191 others(1): Show |
4 | HG01261.hp2 HG03831.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.1130-1650G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215476 | |||||||
| chr14:73215518 | G | A | 29 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(26): Show |
29 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.1130-1608G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215518 | |||||||
| chr14:73215541 | T | TA | 24 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(21): Show |
24 | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.1130-1574dupA | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73215541 | ||||||
| chr14:73215541 | T | TAA | 17 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(14): Show |
17 | HG00323.hp2 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.1130-1575_1130-157 others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73215541 | ||||||
| chr14:73215559 | T | C | 2 | a0001c0001t0005g0174 a0001c0001t0005g0175 |
2 | NA19056.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.1130-1567T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215559 | |||||||
| chr14:73215660 | A | G | 3 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0151 |
3 | HG02258.hp1 HG02897.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1130-1466A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215660 | |||||||
| chr14:73215739 | A | G | 1 | a0001c0001t0008g0192 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1130-1387A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215739 | |||||||
| chr14:73215780 | G | A | 1 | a0001c0001t0002g0361 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1130-1346G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215780 | |||||||
| chr14:73215862 | G | C | 1 | a0001c0001t0004g0290 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1130-1264G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215862 | |||||||
| chr14:73215957 | A | G | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1130-1169A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73215957 | |||||||
| chr14:73216068 | A | AG | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1130-1058_1130-105 others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216068 | |||||||
| chr14:73216069 | T | G | 5 | a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0308 others(2): Show |
5 | HG02486.hp1 HG02809.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1130-1057T>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216069 | |||||||
| chr14:73216132 | C | T | 1 | a0001c0001t0003g0225 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1130-994C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216132 | |||||||
| chr14:73216260 | T | C | 1 | a0001c0001t0030g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1130-866T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216260 | |||||||
| chr14:73216302 | G | T | 1 | a0001c0001t0002g0361 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1130-824G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216302 | |||||||
| chr14:73216346 | A | T | 1 | a0001c0001t0004g0234 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1130-780A>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216346 | |||||||
| chr14:73216391 | A | G | 1 | a0003c0003t0003g0365 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1130-735A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216391 | |||||||
| chr14:73216418 | G | C | 41 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(38): Show |
41 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.1130-708G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216418 | |||||||
| chr14:73216486 | T | C | 318 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(315): Show |
321 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
intron_variant | MODIFIER | c.1130-640T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216486 | |||||||
| chr14:73216487 | G | A | 1 | a0001c0006t0006g0152 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1130-639G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216487 | |||||||
| chr14:73216542 | T | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1130-584T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216542 | |||||||
| chr14:73216688 | G | A | 1 | a0001c0001t0004g0293 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1130-438G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216688 | |||||||
| chr14:73216688 | G | T | 25 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(22): Show |
25 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(22): Show |
intron_variant | MODIFIER | c.1130-438G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216688 | |||||||
| chr14:73216758 | C | CAA | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1130-355_1130-354d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | 73216758 | ||||||
| chr14:73216803 | C | T | 1 | a0001c0001t0002g0337 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1130-323C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216803 | |||||||
| chr14:73216815 | G | T | 6 | a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0121 others(3): Show |
6 | HG00323.hp2 HG01261.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.1130-311G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216815 | |||||||
| chr14:73216933 | G | T | 42 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(39): Show |
42 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(39): Show |
intron_variant | MODIFIER | c.1130-193G>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | chr14 | 73216933 | |||||||
| chr14:73217252 | T | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
splice_region_variant&intron_variant | LOW | c.1248+8T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217252 | |||||||
| chr14:73217272 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1248+28A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217272 | |||||||
| chr14:73217387 | C | T | 3 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0028 |
3 | HG03017.hp2 HG03710.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1248+143C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217387 | |||||||
| chr14:73217714 | G | C | 1 | a0001c0001t0002g0314 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1248+470G>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217714 | |||||||
| chr14:73217725 | G | A | 4 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1248+481G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217725 | |||||||
| chr14:73217741 | C | T | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1248+497C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217741 | |||||||
| chr14:73217795 | A | AT | 58 | a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0053 others(55): Show |
58 | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(55): Show |
intron_variant | MODIFIER | c.1248+571dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73217795 | ||||||
| chr14:73217795 | A | ATT | 74 | a0001c0001t0003g0003 a0001c0001t0003g0122 a0001c0001t0003g0123 others(71): Show |
75 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(72): Show |
intron_variant | MODIFIER | c.1248+570_1248+571d others(4): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73217795 | ||||||
| chr14:73217795 | A | ATTT | 9 | a0001c0001t0003g0107 a0001c0001t0003g0202 a0001c0001t0003g0205 others(6): Show |
9 | HG02015.hp1 HG02074.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.1248+569_1248+571d others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73217795 | ||||||
| chr14:73217795 | A | ATTTT | 8 | a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 others(5): Show |
8 | HG01243.hp2 HG02486.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1248+568_1248+571d others(6): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73217795 | ||||||
| chr14:73217833 | A | G | 42 | a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(39): Show |
42 | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(39): Show |
intron_variant | MODIFIER | c.1248+589A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217833 | |||||||
| chr14:73217864 | T | C | 11 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(8): Show |
11 | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1248+620T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217864 | |||||||
| chr14:73217928 | C | T | 1 | a0001c0001t0007g0285 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1248+684C>T | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73217928 | |||||||
| chr14:73218086 | C | CT | 46 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(43): Show |
46 | HG00423.hp2 HG00735.hp1 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.1248+864dupT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218086 | ||||||
| chr14:73218086 | C | CTTT | 9 | a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 others(6): Show |
9 | HG01243.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1248+862_1248+864d others(5): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218086 | ||||||
| chr14:73218086 | CT | C | 63 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(60): Show |
63 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.1248+864delT | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218086 | ||||||
| chr14:73218131 | G | A | 1 | a0001c0001t0001g0094 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1248+887G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73218131 | |||||||
| chr14:73218190 | G | A | 3 | a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0151 |
3 | HG02258.hp1 HG02897.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1249-944G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73218190 | |||||||
| chr14:73218473 | T | C | 4 | a0001c0001t0012g0177 a0001c0001t0012g0178 a0001c0001t0012g0183 others(1): Show |
4 | NA18964.hp1 NA18980.hp2 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.1249-661T>C | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73218473 | |||||||
| chr14:73218628 | G | A | 5 | a0001c0001t0010g0052 a0001c0001t0010g0061 a0001c0001t0010g0075 others(2): Show |
5 | NA18944.hp2 NA18971.hp2 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.1249-506G>A | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73218628 | |||||||
| chr14:73218643 | ACACAGCA others(15): Show |
A | 1 | a0001c0001t0004g0293 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1249-481_1249-460d others(24): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218643 | ||||||
| chr14:73218653 | AAGAATGC others(15): Show |
A | 3 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0028g0292 |
3 | HG02818.hp1 HG03453.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1249-473_1249-452d others(24): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218653 | ||||||
| chr14:73218661 | T | TCCCGCAC others(36): Show |
19 | a0001c0001t0002g0184 a0001c0001t0002g0338 a0001c0001t0002g0340 others(16): Show |
19 | HG00558.hp2 HG02015.hp2 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.1249-408_1249-366d others(45): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | 73218661 | ||||||
| chr14:73218923 | A | G | 1 | a0001c0004t0020g0311 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1249-211A>G | PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | chr14 | 73218923 |