Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 4853 |
| ensemblid | ENSG00000134250.21 |
| hgncid | 7882 |
| symbol | NOTCH2 |
| name | notch receptor 2 |
| refseq_nuc | NM_024408.4 |
| refseq_prot | NP_077719.2 |
| ensembl_nuc | ENST00000256646.7 |
| ensembl_prot | ENSP00000256646.2 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 119911553 |
| end | 120069662 |
| strand | - |
| ver | v1.2 |
| region | chr1:119911553-120069662 |
| region5000 | chr1:119906553-120074662 |
| regionname0 | NOTCH2_chr1_119911553_120069662 |
| regionname5000 | NOTCH2_chr1_119906553_120074662 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2471 | 155 | 72 | 22 | 28 | 5 | 26 | 22 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0002 | 0/0 | 2471 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0003 | 0/0 | 2471 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0004 | 0/0 | 2471 | 2 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0005 | 0/0 | 2471 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0006 | 0/0 | 2471 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0007 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0008 | 0/0 | 2471 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0009 | 0/0 | 2471 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0010 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| a0011 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | MPALR others(2466): Show |
chr1 | 119906553 | 120074662 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 7413 | 55 | 12 | 11 | 15 | 3 | 12 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0002 | 0/0 | 7413 | 42 | 23 | 6 | 6 | 2 | 5 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0003 | 0/0 | 7413 | 15 | 1 | 3 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0004 | 0/0 | 7413 | 14 | 14 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0005 | 0/0 | 7413 | 9 | 9 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0006 | 0/0 | 7413 | 4 | 0 | 2 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0007 | 0/0 | 7413 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0008 | 0/0 | 7413 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0010 | 0/0 | 7413 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0012 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0013 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0016 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0019 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0021 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0022 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0001c0025 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0002c0011 | 0/0 | 7413 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0003c0009 | 0/0 | 7413 | 2 | 0 | 0 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0004c0015 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0004c0020 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0005c0027 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0006c0018 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0007c0023 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0008c0026 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0009c0017 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0010c0014 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 | ||
| a0011c0024 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | ATGCC others(7408): Show |
chr1 | 119906553 | 120074662 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 11425 | 49 | 11 | 11 | 12 | 2 | 11 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0001t0007 | 0/0 | 11425 | 3 | 0 | 0 | 3 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0001t0012 | 0/0 | 11422 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11417): Show |
chr1 | 119906553 | 120074662 |
| a0001c0001t0013 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0001t0019 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0002t0002 | 0/0 | 11425 | 36 | 17 | 6 | 6 | 2 | 5 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0002t0006 | 0/0 | 11425 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0002t0014 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0002t0015 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0003t0003 | 0/0 | 11428 | 14 | 1 | 2 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11423): Show |
chr1 | 119906553 | 120074662 |
| a0001c0003t0011 | 0/0 | 11425 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0004t0004 | 0/0 | 11425 | 7 | 7 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0004t0005 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0004t0008 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0004t0018 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0005t0001 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0005t0003 | 0/0 | 11428 | 7 | 7 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11423): Show |
chr1 | 119906553 | 120074662 |
| a0001c0005t0016 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0006t0001 | 0/0 | 11425 | 4 | 0 | 2 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0007t0004 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0007t0017 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0008t0002 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0010t0004 | 0/0 | 11425 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0012t0001 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0013t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0016t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0019t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0021t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0022t0005 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0001c0025t0010 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0002c0011t0009 | 0/0 | 11434 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11429): Show |
chr1 | 119906553 | 120074662 |
| a0003c0009t0002 | 0/0 | 11425 | 2 | 0 | 0 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0004c0015t0002 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0004c0020t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0005c0027t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0006c0018t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0007c0023t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0008c0026t0007 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0009c0017t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0010c0014t0002 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| a0011c0024t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | AGGCT others(11420): Show |
chr1 | 119906553 | 120074662 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0075 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0007g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0007g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0007g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0012g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0013g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0001t0019g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0006g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0006g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0006g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0006g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0014g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0002t0015g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0003g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0003t0011g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0005g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0005g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0005g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0008g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0008g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0008g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0004t0018g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0003g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0005t0016g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0006t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0006t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0006t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0006t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0007t0004g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0007t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0007t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0007t0017g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0008t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0008t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0008t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0010t0004g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0010t0004g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0012t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0013t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0016t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0019t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0021t0004g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0022t0005g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0001c0025t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0002c0011t0009g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0002c0011t0009g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0003c0009t0002g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0003c0009t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0004c0015t0002g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0004c0020t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0005c0027t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0006c0018t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0007c0023t0004g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0008c0026t0007g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0009c0017t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0010c0014t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| a0011c0024t0004g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0012 | g0005 | EUR | GBR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0078 | EUR | GBR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0047 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00280 | hp2 | a0005 | c0027 | t0001 | g0142 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00323 | hp2 | a0001 | c0002 | t0002 | g0049 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00408 | hp1 | a0006 | c0018 | t0001 | g0094 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00408 | hp2 | a0001 | c0013 | t0001 | g0108 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00609 | hp2 | a0001 | c0003 | t0003 | g0155 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00735 | hp1 | a0001 | c0002 | t0002 | g0018 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0077 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00738 | hp1 | a0001 | c0006 | t0001 | g0053 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG00738 | hp2 | a0001 | c0002 | t0002 | g0045 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01081 | hp1 | a0001 | c0006 | t0001 | g0054 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01081 | hp2 | a0001 | c0002 | t0002 | g0046 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0137 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01243 | hp1 | a0001 | c0002 | t0002 | g0048 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01361 | hp1 | a0001 | c0002 | t0002 | g0041 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01884 | hp1 | a0001 | c0005 | t0001 | g0140 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01884 | hp2 | a0001 | c0002 | t0002 | g0028 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01891 | hp1 | a0007 | c0023 | t0004 | g0081 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01891 | hp2 | a0001 | c0004 | t0004 | g0127 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG01978 | hp2 | a0001 | c0003 | t0003 | g0149 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02055 | hp1 | a0001 | c0005 | t0003 | g0156 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02055 | hp2 | a0001 | c0002 | t0002 | g0036 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02071 | hp1 | a0008 | c0026 | t0007 | g0163 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02071 | hp2 | a0001 | c0003 | t0003 | g0150 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02145 | hp1 | a0001 | c0004 | t0004 | g0126 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02145 | hp2 | a0001 | c0005 | t0003 | g0143 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02257 | hp2 | a0001 | c0004 | t0005 | g0115 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02258 | hp1 | a0001 | c0004 | t0005 | g0117 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02258 | hp2 | a0001 | c0025 | t0010 | g0004 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02273 | hp1 | a0001 | c0003 | t0003 | g0148 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0065 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02280 | hp1 | a0001 | c0007 | t0004 | g0130 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02280 | hp2 | a0001 | c0008 | t0002 | g0023 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02300 | hp2 | a0001 | c0003 | t0011 | g0006 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02451 | hp2 | a0001 | c0002 | t0002 | g0038 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02572 | hp1 | a0001 | c0007 | t0004 | g0131 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02572 | hp2 | a0001 | c0004 | t0004 | g0113 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02622 | hp1 | a0001 | c0005 | t0003 | g0157 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02622 | hp2 | a0001 | c0004 | t0004 | g0124 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02630 | hp1 | a0002 | c0011 | t0009 | g0002 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02630 | hp2 | a0001 | c0002 | t0006 | g0010 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02647 | hp1 | a0001 | c0004 | t0004 | g0123 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02647 | hp2 | a0001 | c0008 | t0002 | g0022 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02698 | hp1 | a0003 | c0009 | t0002 | g0033 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02717 | hp1 | a0001 | c0004 | t0005 | g0116 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02717 | hp2 | a0001 | c0002 | t0002 | g0015 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02723 | hp1 | a0001 | c0010 | t0004 | g0121 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02723 | hp2 | a0002 | c0011 | t0009 | g0003 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02738 | hp2 | a0003 | c0009 | t0002 | g0050 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02809 | hp1 | a0001 | c0004 | t0018 | g0135 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02809 | hp2 | a0001 | c0002 | t0002 | g0025 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02818 | hp1 | a0001 | c0010 | t0004 | g0120 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02818 | hp2 | a0001 | c0003 | t0003 | g0160 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02886 | hp2 | a0001 | c0002 | t0002 | g0031 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02895 | hp1 | a0001 | c0004 | t0008 | g0110 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02895 | hp2 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0088 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02896 | hp2 | a0001 | c0001 | t0013 | g0125 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02897 | hp1 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0085 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02922 | hp1 | a0001 | c0007 | t0004 | g0129 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02922 | hp2 | a0001 | c0002 | t0002 | g0029 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02965 | hp1 | a0001 | c0008 | t0002 | g0024 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02965 | hp2 | a0001 | c0002 | t0006 | g0007 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02970 | hp1 | a0001 | c0021 | t0004 | g0122 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0100 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0103 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02976 | hp2 | a0001 | c0005 | t0003 | g0159 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03041 | hp1 | a0001 | c0002 | t0006 | g0008 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03041 | hp2 | a0001 | c0022 | t0005 | g0112 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0101 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03098 | hp2 | a0001 | c0002 | t0002 | g0030 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03130 | hp1 | a0001 | c0002 | t0002 | g0020 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03130 | hp2 | a0001 | c0004 | t0004 | g0114 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03239 | hp1 | a0001 | c0002 | t0002 | g0037 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03453 | hp1 | a0001 | c0005 | t0003 | g0139 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0058 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03486 | hp2 | a0001 | c0002 | t0002 | g0014 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03490 | hp1 | a0004 | c0015 | t0002 | g0012 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03490 | hp2 | a0001 | c0006 | t0001 | g0055 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03516 | hp1 | a0004 | c0020 | t0004 | g0118 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03516 | hp2 | a0001 | c0002 | t0006 | g0009 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03540 | hp1 | a0001 | c0005 | t0003 | g0158 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03540 | hp2 | a0001 | c0002 | t0002 | g0039 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03579 | hp1 | a0001 | c0004 | t0008 | g0111 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03579 | hp2 | a0001 | c0002 | t0014 | g0138 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0066 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03704 | hp2 | a0001 | c0003 | t0003 | g0144 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03710 | hp1 | a0001 | c0003 | t0003 | g0151 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03831 | hp1 | a0001 | c0006 | t0001 | g0052 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03831 | hp2 | a0001 | c0003 | t0003 | g0146 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03927 | hp2 | a0001 | c0002 | t0002 | g0011 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0019 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04115 | hp2 | a0001 | c0001 | t0019 | g0167 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04184 | hp2 | a0001 | c0003 | t0003 | g0161 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04199 | hp1 | a0001 | c0002 | t0002 | g0043 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04199 | hp2 | a0001 | c0016 | t0001 | g0082 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0059 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04204 | hp2 | a0001 | c0002 | t0002 | g0042 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04228 | hp1 | a0001 | c0003 | t0003 | g0152 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG04228 | hp2 | a0009 | c0017 | t0001 | g0079 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18906 | hp1 | a0001 | c0002 | t0015 | g0051 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18906 | hp2 | a0001 | c0005 | t0003 | g0162 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18950 | hp1 | a0001 | c0002 | t0002 | g0035 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18964 | hp1 | a0001 | c0001 | t0007 | g0165 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18975 | hp2 | a0001 | c0002 | t0002 | g0034 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18977 | hp1 | a0001 | c0019 | t0001 | g0086 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18977 | hp2 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18983 | hp1 | a0001 | c0003 | t0003 | g0153 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18991 | hp1 | a0001 | c0003 | t0003 | g0147 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA18991 | hp2 | a0001 | c0001 | t0007 | g0166 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19011 | hp1 | a0001 | c0002 | t0002 | g0040 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19054 | hp1 | a0001 | c0003 | t0003 | g0154 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19086 | hp1 | a0001 | c0002 | t0002 | g0032 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19086 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19088 | hp1 | a0001 | c0002 | t0002 | g0044 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19088 | hp2 | a0001 | c0001 | t0007 | g0164 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19240 | hp1 | a0010 | c0014 | t0002 | g0027 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA19240 | hp2 | a0011 | c0024 | t0004 | g0128 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20129 | hp1 | a0001 | c0005 | t0016 | g0141 | AFR | ASW | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20129 | hp2 | a0001 | c0004 | t0008 | g0109 | AFR | ASW | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | GIH | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20905 | hp2 | a0001 | c0003 | t0003 | g0145 | SAS | GIH | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0026 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02109 | hp2 | a0001 | c0004 | t0004 | g0119 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02559 | hp1 | a0001 | c0002 | t0002 | g0016 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG02559 | hp2 | a0001 | c0012 | t0001 | g0076 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03471 | hp1 | a0001 | c0007 | t0017 | g0132 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| HG03471 | hp2 | a0001 | c0002 | t0002 | g0013 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20300 | hp1 | a0001 | c0002 | t0002 | g0017 | AFR | USA | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | USA | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0075 | REF | REF | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0074 | REF | REF | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:119916243 | T | C | 1 | a0009 | 1 | HG04228.hp2 | missense_variant | MODERATE | c.6479A>G | p.Tyr2160Cys | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6735/11425 | 6479/7416 | 2160/2471 | chr1 | 119916243 | |||
| chr1:119922375 | T | C | 1 | a0007 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.5074A>G | p.Ile1692Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/34 | 5330/11425 | 5074/7416 | 1692/2471 | chr1 | 119922375 | |||
| chr1:119922384 | T | A | 1 | a0006 | 1 | HG00408.hp1 | missense_variant | MODERATE | c.5065A>T | p.Ile1689Phe | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/34 | 5321/11425 | 5065/7416 | 1689/2471 | chr1 | 119922384 | |||
| chr1:119922639 | C | T | 1 | a0004 | 2 | HG03490.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.4999G>A | p.Val1667Ile | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 27/34 | 5255/11425 | 4999/7416 | 1667/2471 | chr1 | 119922639 | |||
| chr1:119925660 | C | T | 1 | a0010 | 1 | NA19240.hp1 | missense_variant | MODERATE | c.4156G>A | p.Gly1386Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4412/11425 | 4156/7416 | 1386/2471 | chr1 | 119925660 | |||
| chr1:119935502 | A | C | 1 | a0005 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.3625T>G | p.Phe1209Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/34 | 3881/11425 | 3625/7416 | 1209/2471 | chr1 | 119935502 | |||
| chr1:119941677 | C | A | 1 | a0007 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.2830G>T | p.Asp944Tyr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/34 | 3086/11425 | 2830/7416 | 944/2471 | chr1 | 119941677 | |||
| chr1:119966426 | T | C | 1 | a0011 | 1 | NA19240.hp2 | missense_variant | MODERATE | c.1517A>G | p.Asn506Ser | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/34 | 1773/11425 | 1517/7416 | 506/2471 | chr1 | 119966426 | |||
| chr1:119997308 | G | A | 1 | a0008 | 1 | HG02071.hp1 | missense_variant | MODERATE | c.440C>T | p.Ala147Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 696/11425 | 440/7416 | 147/2471 | chr1 | 119997308 | |||
| chr1:120005529 | C | T | 1 | a0003 | 2 | HG02698.hp1 HG02738.hp2 |
missense_variant | MODERATE | c.215G>A | p.Arg72His | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/34 | 471/11425 | 215/7416 | 72/2471 | chr1 | 120005529 | |||
| chr1:120069350 | G | C | 1 | a0002 | 2 | HG02630.hp1 HG02723.hp2 |
missense_variant | MODERATE | c.57C>G | p.Cys19Trp | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 313/11425 | 57/7416 | 19/2471 | chr1 | 120069350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:119915381 | A | T | 6 | a0001c0002 a0001c0008 a0001c0025 others(3): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
synonymous_variant | LOW | c.7341T>A | p.Gly2447Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 7597/11425 | 7341/7416 | 2447/2471 | chr1 | 119915381 | |||
| chr1:119915798 | C | T | 1 | a0001c0016 | 1 | HG04199.hp2 | synonymous_variant | LOW | c.6924G>A | p.Gln2308Gln | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 7180/11425 | 6924/7416 | 2308/2471 | chr1 | 119915798 | |||
| chr1:119916301 | G | A | 1 | a0001c0003 | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
synonymous_variant | LOW | c.6421C>T | p.Leu2141Leu | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6677/11425 | 6421/7416 | 2141/2471 | chr1 | 119916301 | |||
| chr1:119916563 | G | A | 1 | a0001c0021 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.6159C>T | p.Arg2053Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6415/11425 | 6159/7416 | 2053/2471 | chr1 | 119916563 | |||
| chr1:119925505 | G | A | 1 | a0001c0010 | 2 | HG02723.hp1 HG02818.hp1 |
synonymous_variant | LOW | c.4311C>T | p.Gly1437Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4567/11425 | 4311/7416 | 1437/2471 | chr1 | 119925505 | |||
| chr1:119925511 | C | T | 1 | a0001c0006 | 4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
synonymous_variant | LOW | c.4305G>A | p.Arg1435Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4561/11425 | 4305/7416 | 1435/2471 | chr1 | 119925511 | |||
| chr1:119925802 | G | A | 2 | a0001c0019 a0001c0022 |
2 | HG03041.hp2 NA18977.hp1 |
synonymous_variant | LOW | c.4014C>T | p.Ser1338Ser | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4270/11425 | 4014/7416 | 1338/2471 | chr1 | 119925802 | |||
| chr1:119937960 | G | A | 6 | a0001c0004 a0001c0010 a0001c0021 others(3): Show |
21 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(18): Show |
synonymous_variant | LOW | c.3234C>T | p.Cys1078Cys | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/34 | 3490/11425 | 3234/7416 | 1078/2471 | chr1 | 119937960 | |||
| chr1:119940621 | C | T | 1 | a0001c0008 | 3 | HG02280.hp2 HG02647.hp2 HG02965.hp1 |
synonymous_variant | LOW | c.3117G>A | p.Thr1039Thr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/34 | 3373/11425 | 3117/7416 | 1039/2471 | chr1 | 119940621 | |||
| chr1:119940704 | A | G | 1 | a0001c0013 | 1 | HG00408.hp2 | synonymous_variant | LOW | c.3034T>C | p.Leu1012Leu | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/34 | 3290/11425 | 3034/7416 | 1012/2471 | chr1 | 119940704 | |||
| chr1:119969680 | G | A | 2 | a0001c0007 a0011c0024 |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.939C>T | p.Gly313Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/34 | 1195/11425 | 939/7416 | 313/2471 | chr1 | 119969680 | |||
| chr1:119997292 | G | A | 1 | a0001c0025 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.456C>T | p.Pro152Pro | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 712/11425 | 456/7416 | 152/2471 | chr1 | 119997292 | |||
| chr1:119997313 | C | T | 1 | a0001c0012 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.435G>A | p.Thr145Thr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 691/11425 | 435/7416 | 145/2471 | chr1 | 119997313 | |||
| chr1:120069392 | G | A | 4 | a0001c0003 a0001c0005 a0002c0011 others(1): Show |
27 | HG00280.hp2 HG00609.hp2 HG01884.hp1 others(24): Show |
synonymous_variant | LOW | c.15C>T | p.Arg5Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 271/11425 | 15/7416 | 5/2471 | chr1 | 120069392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:119911965 | A | T | 1 | a0001c0005t0016 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3341T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 3341 | chr1 | 119911965 | ||||||
| chr1:119912472 | T | C | 3 | a0001c0003t0003 a0001c0003t0011 a0001c0005t0003 |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*2834A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2834 | chr1 | 119912472 | ||||||
| chr1:119912659 | A | G | 1 | a0001c0002t0014 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2647T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2647 | chr1 | 119912659 | ||||||
| chr1:119912687 | A | G | 9 | a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 others(6): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*2619T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2619 | chr1 | 119912687 | ||||||
| chr1:119912818 | A | G | 26 | a0001c0001t0013 a0001c0002t0002 a0001c0002t0006 others(23): Show |
100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*2488T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2488 | chr1 | 119912818 | ||||||
| chr1:119912963 | T | C | 10 | a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 others(7): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*2343A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2343 | chr1 | 119912963 | ||||||
| chr1:119913295 | C | A | 1 | a0001c0002t0006 | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2011G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2011 | chr1 | 119913295 | ||||||
| chr1:119913509 | T | A | 1 | a0001c0004t0018 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1797A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1797 | chr1 | 119913509 | ||||||
| chr1:119913769 | T | TCTA | 3 | a0001c0003t0003 a0001c0003t0011 a0001c0005t0003 |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1534_*1536dupTAG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1536 | chr1 | 119913769 | ||||||
| chr1:119913940 | G | T | 9 | a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 others(6): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*1366C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1366 | chr1 | 119913940 | ||||||
| chr1:119914564 | A | G | 2 | a0001c0004t0005 a0001c0022t0005 |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*742T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 742 | chr1 | 119914564 | ||||||
| chr1:119914815 | C | T | 1 | a0001c0001t0013 | 1 | HG02896.hp2 | 3_prime_UTR_variant | MODIFIER | c.*491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 491 | chr1 | 119914815 | ||||||
| chr1:119914878 | C | T | 4 | a0001c0003t0003 a0001c0003t0011 a0001c0004t0008 others(1): Show |
25 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*428G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 428 | chr1 | 119914878 | ||||||
| chr1:120069426 | T | TCCTCCGC others(2): Show |
1 | a0002c0011t0009 | 2 | HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-21_-20insCGGCGGAG others(1): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 21 | chr1 | 120069426 | ||||||
| chr1:120069426 | TCCG | T | 2 | a0001c0001t0012 a0001c0003t0011 |
2 | HG00140.hp1 HG02300.hp2 |
5_prime_UTR_variant | MODIFIER | c.-23_-21delCGG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 21 | chr1 | 120069426 | ||||||
| chr1:120069429 | G | T | 1 | a0001c0025t0010 | 1 | HG02258.hp2 | 5_prime_UTR_variant | MODIFIER | c.-23C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 23 | chr1 | 120069429 | ||||||
| chr1:120069554 | C | T | 1 | a0002c0011t0009 | 2 | HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-148G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 148 | chr1 | 120069554 | ||||||
| chr1:120069575 | C | A | 2 | a0001c0001t0007 a0008c0026t0007 |
4 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-169G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 169 | chr1 | 120069575 | ||||||
| chr1:120069620 | G | C | 1 | a0001c0001t0019 | 1 | HG04115.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-214C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | chr1 | 120069620 | |||||||
| chr1:120069651 | A | G | 2 | a0001c0025t0010 a0002c0011t0009 |
3 | HG02258.hp2 HG02630.hp1 HG02723.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-245T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | chr1 | 120069651 | |||||||
| chr1:120069655 | A | G | 2 | a0001c0025t0010 a0002c0011t0009 |
3 | HG02258.hp2 HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-249T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 249 | chr1 | 120069655 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:119916735 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.6028-41A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916735 | |||||||
| chr1:119916746 | T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6028-52A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916746 | |||||||
| chr1:119916778 | C | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6028-84G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916778 | |||||||
| chr1:119916781 | C | T | 2 | a0001c0001t0001g0089 a0001c0001t0001g0134 |
2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.6028-87G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916781 | |||||||
| chr1:119916810 | G | A | 6 | a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 others(3): Show |
6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.6028-116C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916810 | |||||||
| chr1:119916953 | T | C | 1 | a0001c0005t0003g0158 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.6028-259A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916953 | |||||||
| chr1:119917003 | G | C | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.6028-309C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917003 | |||||||
| chr1:119917021 | A | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6028-327T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917021 | |||||||
| chr1:119917030 | A | AAGGAAAA others(50): Show |
1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6028-393_6028-337d others(59): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917030 | |||||||
| chr1:119917098 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.6028-404C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917098 | |||||||
| chr1:119917351 | C | G | 5 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 others(2): Show |
5 | HG01433.hp1 HG02896.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.6027+314G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917351 | |||||||
| chr1:119917618 | G | T | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.6027+47C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917618 | |||||||
| chr1:119918011 | A | G | 26 | a0001c0001t0001g0102 a0001c0004t0004g0113 a0001c0004t0004g0114 others(23): Show |
26 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(23): Show |
intron_variant | MODIFIER | c.5930-249T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 32/33 | chr1 | 119918011 | |||||||
| chr1:119918293 | A | C | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.5929+113T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 32/33 | chr1 | 119918293 | |||||||
| chr1:119918630 | C | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.5782-77G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918630 | |||||||
| chr1:119918913 | T | A | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.5782-360A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918913 | |||||||
| chr1:119918934 | G | A | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.5781+378C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918934 | |||||||
| chr1:119918950 | AAGCCCAT others(2): Show |
A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.5781+353_5781+361d others(11): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918950 | |||||||
| chr1:119919006 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.5781+306C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119919006 | |||||||
| chr1:119919845 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.5480-232G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119919845 | |||||||
| chr1:119919901 | C | A | 1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5480-288G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119919901 | |||||||
| chr1:119920225 | T | C | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | splice_region_variant&intron_variant | LOW | c.5479+4A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119920225 | |||||||
| chr1:119920421 | C | T | 2 | a0001c0001t0001g0084 a0001c0001t0001g0090 |
2 | HG00323.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.5311-24G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920421 | |||||||
| chr1:119920607 | C | T | 106 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 others(103): Show |
107 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.5311-210G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920607 | |||||||
| chr1:119920775 | C | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.5311-378G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920775 | |||||||
| chr1:119920969 | G | A | 10 | a0001c0004t0004g0123 a0001c0004t0004g0124 a0001c0004t0004g0126 others(7): Show |
10 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.5311-572C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920969 | |||||||
| chr1:119921031 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.5311-634C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921031 | |||||||
| chr1:119921115 | C | G | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5310+598G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921115 | |||||||
| chr1:119921250 | T | C | 5 | a0001c0001t0001g0069 a0001c0001t0007g0164 a0001c0001t0007g0165 others(2): Show |
5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.5310+463A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921250 | |||||||
| chr1:119921284 | C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5310+429G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921284 | |||||||
| chr1:119921378 | G | A | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.5310+335C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921378 | |||||||
| chr1:119921518 | A | C | 4 | a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.5310+195T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921518 | |||||||
| chr1:119921542 | C | T | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.5310+171G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921542 | |||||||
| chr1:119921629 | A | G | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5310+84T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921629 | |||||||
| chr1:119921998 | G | A | 1 | a0004c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.5214-189C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/33 | chr1 | 119921998 | |||||||
| chr1:119922533 | ACCTCAAC others(3): Show |
A | 2 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5002+93_5003-88del others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 27/33 | chr1 | 119922533 | |||||||
| chr1:119922961 | A | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.4860-183T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119922961 | |||||||
| chr1:119923058 | C | T | 2 | a0001c0001t0001g0099 a0001c0001t0001g0136 |
2 | HG01978.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.4860-280G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119923058 | |||||||
| chr1:119923485 | G | A | 97 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.4859+152C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119923485 | |||||||
| chr1:119924098 | C | T | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4512-114G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924098 | |||||||
| chr1:119924131 | G | C | 20 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(17): Show |
20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.4512-147C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924131 | |||||||
| chr1:119924880 | G | A | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4511+425C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924880 | |||||||
| chr1:119925135 | C | G | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4511+170G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119925135 | |||||||
| chr1:119925253 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4511+52C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119925253 | |||||||
| chr1:119925864 | T | C | 4 | a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4006-54A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 24/33 | chr1 | 119925864 | |||||||
| chr1:119926454 | T | C | 7 | a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0088 others(4): Show |
7 | HG00140.hp1 HG01978.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.4005+45A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 24/33 | chr1 | 119926454 | |||||||
| chr1:119926910 | C | A | 1 | a0003c0009t0002g0033 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3893-299G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119926910 | |||||||
| chr1:119927163 | A | G | 1 | a0001c0001t0001g0099 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3893-552T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927163 | |||||||
| chr1:119927260 | C | T | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3893-649G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927260 | |||||||
| chr1:119927360 | C | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3893-749G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927360 | |||||||
| chr1:119927454 | G | A | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3893-843C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927454 | |||||||
| chr1:119927525 | AT | A | 64 | a0001c0001t0001g0133 a0001c0002t0002g0001 a0001c0002t0002g0011 others(61): Show |
65 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.3893-915delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927525 | |||||||
| chr1:119927689 | C | T | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.3893-1078G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927689 | |||||||
| chr1:119927691 | G | A | 3 | a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 |
3 | HG00280.hp1 HG00323.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.3893-1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927691 | |||||||
| chr1:119927745 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3893-1134C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927745 | |||||||
| chr1:119927822 | T | C | 5 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(2): Show |
5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.3892+1154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927822 | |||||||
| chr1:119927896 | G | A | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3892+1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927896 | |||||||
| chr1:119928005 | G | A | 5 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(2): Show |
5 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3892+971C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928005 | |||||||
| chr1:119928561 | TG | T | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3892+414delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928561 | |||||||
| chr1:119928601 | A | G | 50 | a0001c0001t0001g0133 a0001c0002t0002g0001 a0001c0002t0002g0011 others(47): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3892+375T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928601 | |||||||
| chr1:119928801 | C | T | 159 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(156): Show |
160 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3892+175G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928801 | |||||||
| chr1:119928918 | T | C | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3892+58A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928918 | |||||||
| chr1:119929234 | C | T | 50 | a0001c0001t0001g0133 a0001c0002t0002g0001 a0001c0002t0002g0011 others(47): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3656-22G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119929234 | |||||||
| chr1:119929884 | C | A | 50 | a0001c0001t0001g0133 a0001c0002t0002g0001 a0001c0002t0002g0011 others(47): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3656-672G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119929884 | |||||||
| chr1:119930443 | A | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.3656-1231T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930443 | |||||||
| chr1:119930642 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.3656-1430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930642 | |||||||
| chr1:119930703 | C | T | 1 | a0006c0018t0001g0094 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.3656-1491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930703 | |||||||
| chr1:119930802 | A | T | 47 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(44): Show |
48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-1590T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930802 | |||||||
| chr1:119930912 | C | A | 1 | a0001c0003t0003g0150 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.3656-1700G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930912 | |||||||
| chr1:119931034 | T | G | 11 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(8): Show |
11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.3656-1822A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931034 | |||||||
| chr1:119931050 | C | A | 1 | a0001c0002t0002g0038 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.3656-1838G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931050 | |||||||
| chr1:119931059 | C | T | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.3656-1847G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931059 | |||||||
| chr1:119931101 | T | TC | 41 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(38): Show |
42 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.3656-1890_3656-188 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931101 | |||||||
| chr1:119931101 | T | TCA | 6 | a0001c0002t0002g0021 a0001c0002t0002g0041 a0001c0002t0006g0008 others(3): Show |
6 | HG01361.hp1 HG02630.hp2 HG02698.hp1 others(3): Show |
intron_variant | MODIFIER | c.3656-1890_3656-188 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931101 | |||||||
| chr1:119931102 | T | A | 47 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(44): Show |
48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-1890A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931102 | |||||||
| chr1:119931102 | T | C | 34 | a0001c0001t0013g0125 a0001c0003t0003g0144 a0001c0003t0003g0145 others(31): Show |
34 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(31): Show |
intron_variant | MODIFIER | c.3656-1890A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931102 | |||||||
| chr1:119931103 | A | C | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3656-1891T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931103 | |||||||
| chr1:119931237 | A | C | 1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3656-2025T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931237 | |||||||
| chr1:119931365 | G | A | 1 | a0001c0001t0001g0087 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3656-2153C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931365 | |||||||
| chr1:119931389 | T | A | 16 | a0001c0002t0002g0030 a0001c0004t0004g0113 a0001c0004t0004g0114 others(13): Show |
16 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3656-2177A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931389 | |||||||
| chr1:119931437 | G | A | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3656-2225C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931437 | |||||||
| chr1:119931555 | C | T | 47 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(44): Show |
48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-2343G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931555 | |||||||
| chr1:119931636 | T | C | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3656-2424A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931636 | |||||||
| chr1:119931884 | G | T | 62 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(59): Show |
62 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.3656-2672C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931884 | |||||||
| chr1:119931978 | A | ATG | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3656-2768_3656-276 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931978 | |||||||
| chr1:119931984 | GTA | G | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3656-2774_3656-277 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931984 | |||||||
| chr1:119931986 | A | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3656-2774T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931986 | |||||||
| chr1:119932060 | A | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3656-2848T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932060 | |||||||
| chr1:119932276 | T | C | 5 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(2): Show |
5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.3656-3064A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932276 | |||||||
| chr1:119932519 | G | A | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3655+2953C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932519 | |||||||
| chr1:119932607 | A | ATATC | 33 | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0072 others(30): Show |
33 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(30): Show |
intron_variant | MODIFIER | c.3655+2861_3655+286 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | |||||||
| chr1:119932607 | A | ATATCTAT others(1): Show |
5 | a0001c0001t0001g0065 a0001c0001t0001g0104 a0001c0001t0001g0107 others(2): Show |
5 | HG01891.hp2 HG02273.hp2 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.3655+2857_3655+286 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | |||||||
| chr1:119932607 | ATATC | A | 35 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 others(32): Show |
35 | HG00280.hp1 HG00609.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.3655+2861_3655+286 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | |||||||
| chr1:119932607 | ATATCTAT others(1): Show |
A | 26 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(23): Show |
27 | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.3655+2857_3655+286 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | |||||||
| chr1:119933007 | T | C | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3655+2465A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119933007 | |||||||
| chr1:119933385 | T | TA | 7 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(4): Show |
7 | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.3655+2086dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119933385 | |||||||
| chr1:119934290 | T | C | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3655+1182A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934290 | |||||||
| chr1:119934352 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3655+1120A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934352 | |||||||
| chr1:119934913 | T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3655+559A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934913 | |||||||
| chr1:119935375 | C | A | 77 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(74): Show |
78 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.3655+97G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119935375 | |||||||
| chr1:119935662 | T | C | 61 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(58): Show |
61 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(58): Show |
intron_variant | MODIFIER | c.3523-58A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935662 | |||||||
| chr1:119935729 | T | G | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3523-125A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935729 | |||||||
| chr1:119935878 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.3523-274A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935878 | |||||||
| chr1:119936138 | G | A | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.3523-534C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936138 | |||||||
| chr1:119936184 | C | T | 17 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(14): Show |
18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.3523-580G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936184 | |||||||
| chr1:119936580 | C | G | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3522+702G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936580 | |||||||
| chr1:119936855 | A | AT | 16 | a0001c0001t0013g0125 a0001c0002t0002g0021 a0001c0002t0006g0007 others(13): Show |
16 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.3522+426dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936855 | |||||||
| chr1:119937520 | T | C | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3338-54A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/33 | chr1 | 119937520 | |||||||
| chr1:119937771 | T | C | 159 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(156): Show |
160 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3337+86A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/33 | chr1 | 119937771 | |||||||
| chr1:119938086 | C | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.3184-76G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938086 | |||||||
| chr1:119938165 | T | C | 2 | a0001c0002t0002g0042 a0001c0002t0002g0043 |
2 | HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.3184-155A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938165 | |||||||
| chr1:119938882 | G | A | 1 | a0001c0001t0001g0060 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3184-872C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938882 | |||||||
| chr1:119938932 | G | A | 2 | a0001c0004t0005g0115 a0001c0004t0005g0116 |
2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3184-922C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938932 | |||||||
| chr1:119939273 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3184-1263A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939273 | |||||||
| chr1:119939315 | A | G | 1 | a0001c0002t0002g0025 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3183+1240T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939315 | |||||||
| chr1:119939416 | G | T | 8 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(5): Show |
8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.3183+1139C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939416 | |||||||
| chr1:119939440 | T | C | 4 | a0001c0003t0003g0150 a0001c0003t0003g0153 a0001c0003t0003g0154 others(1): Show |
4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+1115A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939440 | |||||||
| chr1:119939466 | C | T | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+1089G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939466 | |||||||
| chr1:119939578 | T | C | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3183+977A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939578 | |||||||
| chr1:119939872 | CAAGTT | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3183+678_3183+682d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939872 | |||||||
| chr1:119939979 | C | A | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3183+576G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939979 | |||||||
| chr1:119940185 | A | T | 1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3183+370T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940185 | |||||||
| chr1:119940267 | C | T | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+288G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940267 | |||||||
| chr1:119940284 | A | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.3183+271T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940284 | |||||||
| chr1:119940874 | T | C | 8 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(5): Show |
8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.2982-118A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119940874 | |||||||
| chr1:119941007 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2982-251A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941007 | |||||||
| chr1:119941040 | T | G | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2982-284A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941040 | |||||||
| chr1:119941298 | G | C | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.2981+228C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941298 | |||||||
| chr1:119941390 | TAGG | T | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2981+133_2981+135d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941390 | |||||||
| chr1:119941515 | T | C | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2981+11A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941515 | |||||||
| chr1:119941798 | G | A | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.2753-44C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119941798 | |||||||
| chr1:119941882 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2753-128C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119941882 | |||||||
| chr1:119942095 | T | C | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2753-341A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942095 | |||||||
| chr1:119942134 | T | A | 1 | a0001c0002t0002g0037 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2753-380A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942134 | |||||||
| chr1:119942189 | CCT | C | 2 | a0001c0004t0004g0113 a0001c0004t0004g0114 |
2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2753-437_2753-436d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942189 | |||||||
| chr1:119942712 | C | A | 2 | a0001c0005t0001g0140 a0001c0005t0016g0141 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2753-958G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942712 | |||||||
| chr1:119942775 | A | G | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2753-1021T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942775 | |||||||
| chr1:119942873 | CT | C | 65 | a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0014 others(62): Show |
66 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.2753-1120delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942873 | |||||||
| chr1:119942894 | G | A | 97 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.2753-1140C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942894 | |||||||
| chr1:119943209 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2753-1455G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943209 | |||||||
| chr1:119943268 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2753-1514A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943268 | |||||||
| chr1:119943315 | C | T | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2753-1561G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943315 | |||||||
| chr1:119943438 | G | A | 21 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(18): Show |
21 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.2753-1684C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943438 | |||||||
| chr1:119943924 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2753-2170G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943924 | |||||||
| chr1:119944361 | C | A | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2753-2607G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944361 | |||||||
| chr1:119944533 | T | TA | 11 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0013g0125 others(8): Show |
11 | HG02145.hp1 HG02559.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.2753-2780dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944533 | |||||||
| chr1:119944631 | GGAGA | G | 2 | a0001c0006t0001g0052 a0001c0006t0001g0055 |
2 | HG03490.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.2753-2881_2753-287 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944631 | |||||||
| chr1:119944747 | A | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2753-2993T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944747 | |||||||
| chr1:119945013 | T | G | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2753-3259A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945013 | |||||||
| chr1:119945248 | T | G | 1 | a0001c0001t0001g0078 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2752+3166A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945248 | |||||||
| chr1:119945315 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+3099C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945315 | |||||||
| chr1:119945860 | T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2752+2554A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945860 | |||||||
| chr1:119946257 | A | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+2157T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946257 | |||||||
| chr1:119946264 | C | G | 1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2752+2150G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946264 | |||||||
| chr1:119946434 | A | T | 61 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(58): Show |
61 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(58): Show |
intron_variant | MODIFIER | c.2752+1980T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946434 | |||||||
| chr1:119946567 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2752+1847G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946567 | |||||||
| chr1:119946626 | T | C | 5 | a0001c0001t0001g0069 a0001c0001t0007g0164 a0001c0001t0007g0165 others(2): Show |
5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2752+1788A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946626 | |||||||
| chr1:119946687 | C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2752+1727G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946687 | |||||||
| chr1:119946712 | T | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+1702A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946712 | |||||||
| chr1:119946785 | C | T | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2752+1629G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946785 | |||||||
| chr1:119946930 | T | C | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2752+1484A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946930 | |||||||
| chr1:119947254 | A | G | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2752+1160T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947254 | |||||||
| chr1:119947355 | T | A | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02602.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.2752+1059A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947355 | |||||||
| chr1:119947423 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+991A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947423 | |||||||
| chr1:119947436 | T | C | 1 | a0001c0002t0002g0018 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2752+978A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947436 | |||||||
| chr1:119947581 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+833A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947581 | |||||||
| chr1:119947621 | C | G | 1 | a0001c0001t0001g0092 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2752+793G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947621 | |||||||
| chr1:119947639 | C | A | 1 | a0003c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2752+775G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947639 | |||||||
| chr1:119947749 | T | C | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2752+665A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947749 | |||||||
| chr1:119948678 | G | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2600-112C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948678 | |||||||
| chr1:119948805 | G | A | 3 | a0001c0001t0001g0063 a0001c0001t0001g0100 a0007c0023t0004g0081 |
3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2599+202C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948805 | |||||||
| chr1:119948995 | C | G | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2599+12G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948995 | |||||||
| chr1:119949191 | C | T | 1 | a0001c0002t0002g0034 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.2480-65G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949191 | |||||||
| chr1:119949312 | G | GT | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.2480-187dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949312 | |||||||
| chr1:119949372 | C | A | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.2480-246G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949372 | |||||||
| chr1:119949383 | C | CT | 6 | a0001c0001t0001g0056 a0001c0002t0002g0019 a0001c0002t0006g0010 others(3): Show |
6 | HG02055.hp1 HG02145.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.2480-258dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949383 | |||||||
| chr1:119949541 | G | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.2480-415C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949541 | |||||||
| chr1:119949577 | G | A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2480-451C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949577 | |||||||
| chr1:119950096 | C | G | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2479+628G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119950096 | |||||||
| chr1:119950180 | CAGATTCA others(15): Show |
C | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2479+522_2479+543d others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119950180 | |||||||
| chr1:119951081 | C | A | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2366-244G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951081 | |||||||
| chr1:119951267 | C | G | 4 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2366-430G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951267 | |||||||
| chr1:119951480 | T | G | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.2366-643A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951480 | |||||||
| chr1:119951999 | G | A | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2366-1162C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951999 | |||||||
| chr1:119952172 | T | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.2366-1335A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952172 | |||||||
| chr1:119952544 | TC | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2365+998delG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952544 | |||||||
| chr1:119952630 | G | A | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2365+913C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952630 | |||||||
| chr1:119952883 | T | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+660A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952883 | |||||||
| chr1:119953168 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2365+375C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953168 | |||||||
| chr1:119953300 | C | A | 1 | a0001c0001t0001g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2365+243G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953300 | |||||||
| chr1:119953305 | C | T | 2 | a0001c0003t0003g0148 a0001c0003t0003g0149 |
2 | HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.2365+238G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953305 | |||||||
| chr1:119953311 | G | C | 99 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(96): Show |
100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.2365+232C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953311 | |||||||
| chr1:119953313 | C | CA | 39 | a0001c0001t0013g0125 a0001c0003t0003g0144 a0001c0003t0003g0145 others(36): Show |
39 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(36): Show |
intron_variant | MODIFIER | c.2365+229dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953313 | |||||||
| chr1:119953313 | C | CAA | 57 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(54): Show |
58 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(55): Show |
intron_variant | MODIFIER | c.2365+228_2365+229d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953313 | |||||||
| chr1:119953496 | A | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+47T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953496 | |||||||
| chr1:119953504 | A | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+39T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953504 | |||||||
| chr1:119954059 | TG | T | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.2220-372delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954059 | |||||||
| chr1:119954075 | A | G | 1 | a0001c0004t0008g0110 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2220-387T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954075 | |||||||
| chr1:119954472 | T | C | 3 | a0001c0002t0002g0001 a0001c0002t0002g0020 a0001c0002t0002g0025 |
4 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2219+568A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954472 | |||||||
| chr1:119954529 | A | G | 2 | a0001c0004t0004g0123 a0001c0004t0004g0124 |
2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2219+511T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954529 | |||||||
| chr1:119955463 | G | C | 62 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(59): Show |
62 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.2027-231C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955463 | |||||||
| chr1:119955627 | C | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-395G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955627 | |||||||
| chr1:119955767 | C | CA | 85 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(82): Show |
86 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.2027-536_2027-535i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955767 | |||||||
| chr1:119955944 | C | A | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2027-712G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955944 | |||||||
| chr1:119956173 | A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2027-941T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956173 | |||||||
| chr1:119956674 | G | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | HG01433.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2027-1442C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956674 | |||||||
| chr1:119956950 | A | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-1718T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956950 | |||||||
| chr1:119956951 | G | A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-1719C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956951 | |||||||
| chr1:119957009 | G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2027-1777C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957009 | |||||||
| chr1:119957122 | G | A | 1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2027-1890C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957122 | |||||||
| chr1:119957131 | G | A | 2 | a0001c0001t0001g0070 a0001c0006t0001g0053 |
2 | HG00738.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.2027-1899C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957131 | |||||||
| chr1:119957575 | C | G | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.2026+1817G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957575 | |||||||
| chr1:119957761 | A | G | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2026+1631T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957761 | |||||||
| chr1:119957827 | T | TC | 2 | a0001c0001t0001g0095 a0001c0001t0001g0134 |
2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2026+1564_2026+156 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957827 | |||||||
| chr1:119957828 | AAAC | A | 2 | a0001c0002t0002g0044 a0003c0009t0002g0050 |
2 | HG02738.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957828 | |||||||
| chr1:119957829 | A | AAC | 17 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 others(14): Show |
17 | HG00280.hp2 HG01081.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACAC | 15 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 others(12): Show |
15 | HG00735.hp2 HG01433.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.2026+1559_2026+156 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACAC | 12 | a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0090 others(9): Show |
12 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.2026+1557_2026+156 others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACACA others(1): Show |
15 | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0097 others(12): Show |
15 | HG00408.hp1 HG02132.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.2026+1555_2026+156 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACACA others(3): Show |
2 | a0001c0001t0001g0065 a0001c0001t0019g0167 |
2 | HG02273.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2026+1553_2026+156 others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACACA others(5): Show |
2 | a0001c0001t0001g0084 a0001c0001t0001g0099 |
2 | HG02738.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.2026+1551_2026+156 others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACACA others(7): Show |
1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2026+1549_2026+156 others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AACACACA others(9): Show |
1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2026+1547_2026+156 others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | AC | 2 | a0001c0003t0003g0161 a0001c0010t0004g0121 |
2 | HG02723.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.2026+1562_2026+156 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | ACACAC | 4 | a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0001g0136 others(1): Show |
4 | HG01978.hp1 HG04204.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.2026+1562_2026+156 others(9): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | A | C | 2 | a0001c0001t0001g0095 a0001c0001t0001g0134 |
2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2026+1563T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AAC | A | 17 | a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0085 others(14): Show |
17 | HG01081.hp2 HG02280.hp1 HG02630.hp2 others(14): Show |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AACAC | A | 22 | a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0032 others(19): Show |
22 | HG00323.hp2 HG00735.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+1559_2026+156 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AACACAC | A | 4 | a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0048 others(1): Show |
4 | HG01243.hp1 HG02055.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.2026+1557_2026+156 others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AACACACA others(1): Show |
A | 7 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(4): Show |
7 | HG02559.hp1 HG02717.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.2026+1555_2026+156 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AACACACA others(5): Show |
A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2026+1551_2026+156 others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957829 | AACACACA others(11): Show |
A | 2 | a0001c0001t0001g0087 a0001c0001t0001g0089 |
2 | HG01433.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.2026+1545_2026+156 others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | |||||||
| chr1:119957878 | ACACAC | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2026+1509_2026+151 others(9): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957878 | |||||||
| chr1:119958017 | T | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+1375A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958017 | |||||||
| chr1:119958047 | T | G | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2026+1345A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958047 | |||||||
| chr1:119958117 | A | T | 2 | a0003c0009t0002g0033 a0003c0009t0002g0050 |
2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.2026+1275T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958117 | |||||||
| chr1:119958328 | C | G | 17 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(14): Show |
18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.2026+1064G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958328 | |||||||
| chr1:119958714 | A | ATG | 57 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 others(54): Show |
57 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.2026+676_2026+677d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | |||||||
| chr1:119958714 | A | ATGTG | 8 | a0001c0001t0013g0125 a0001c0004t0004g0124 a0001c0004t0004g0126 others(5): Show |
8 | HG00408.hp2 HG01891.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2026+674_2026+677d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | |||||||
| chr1:119958714 | ATG | A | 19 | a0001c0001t0001g0101 a0001c0002t0002g0039 a0001c0003t0003g0144 others(16): Show |
19 | HG00609.hp2 HG01081.hp1 HG01978.hp2 others(16): Show |
intron_variant | MODIFIER | c.2026+676_2026+677d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | |||||||
| chr1:119958714 | ATGTG | A | 54 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(51): Show |
55 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.2026+674_2026+677d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | |||||||
| chr1:119958714 | ATGTGTGT others(1): Show |
A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2026+670_2026+677d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | |||||||
| chr1:119958752 | G | A | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2026+640C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958752 | |||||||
| chr1:119959089 | A | G | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+303T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959089 | |||||||
| chr1:119959141 | T | C | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+251A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959141 | |||||||
| chr1:119959308 | A | C | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2026+84T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959308 | |||||||
| chr1:119960347 | G | A | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1916-845C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960347 | |||||||
| chr1:119960507 | C | A | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1916-1005G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960507 | |||||||
| chr1:119960956 | G | A | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1916-1454C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960956 | |||||||
| chr1:119961033 | C | T | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1916-1531G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961033 | |||||||
| chr1:119961245 | C | T | 1 | a0001c0002t0002g0016 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1916-1743G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961245 | |||||||
| chr1:119961289 | AG | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.1916-1788delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961289 | |||||||
| chr1:119961302 | T | C | 1 | a0001c0003t0003g0153 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1916-1800A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961302 | |||||||
| chr1:119961465 | A | G | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1916-1963T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961465 | |||||||
| chr1:119961490 | C | CACA | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1916-1991_1916-198 others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961490 | |||||||
| chr1:119961595 | C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1915+1979G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961595 | |||||||
| chr1:119962285 | T | C | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1915+1289A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962285 | |||||||
| chr1:119962362 | A | G | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.1915+1212T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962362 | |||||||
| chr1:119962390 | G | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1915+1184C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962390 | |||||||
| chr1:119962558 | C | G | 2 | a0001c0004t0004g0123 a0001c0004t0004g0124 |
2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1915+1016G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962558 | |||||||
| chr1:119962897 | C | T | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1915+677G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962897 | |||||||
| chr1:119962909 | G | A | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.1915+665C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962909 | |||||||
| chr1:119962917 | C | A | 1 | a0006c0018t0001g0094 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1915+657G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962917 | |||||||
| chr1:119963166 | A | AGAAG | 37 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(34): Show |
38 | HG01109.hp1 HG01243.hp1 HG01361.hp1 others(35): Show |
intron_variant | MODIFIER | c.1915+404_1915+407d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | |||||||
| chr1:119963166 | A | AGAAGGAA others(1): Show |
14 | a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0044 others(11): Show |
14 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.1915+400_1915+407d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | |||||||
| chr1:119963166 | A | AGAAGGAA others(5): Show |
1 | a0001c0002t0002g0038 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1915+407_1915+408i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | |||||||
| chr1:119963166 | A | AGAAGGAA others(9): Show |
1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1915+407_1915+408i others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | |||||||
| chr1:119963172 | AAGGT | A | 18 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0147 others(15): Show |
18 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.1915+398_1915+401d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963172 | |||||||
| chr1:119963176 | T | A | 74 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(71): Show |
75 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1915+398A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963176 | |||||||
| chr1:119963180 | T | A | 92 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(89): Show |
93 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.1915+394A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGA | 5 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 others(2): Show |
5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1915+390_1915+393d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGAAGG others(1): Show |
6 | a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0107 others(3): Show |
6 | HG00408.hp2 HG02148.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1915+386_1915+393d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGAAGG others(5): Show |
50 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(47): Show |
50 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.1915+382_1915+393d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGAAGG others(9): Show |
3 | a0001c0005t0001g0140 a0001c0005t0016g0141 a0005c0027t0001g0142 |
3 | HG00280.hp2 HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1915+378_1915+393d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGAAGG others(13): Show |
1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1915+374_1915+393d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963180 | T | TAGGAAGG others(8): Show |
1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1915+393_1915+394i others(17): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | |||||||
| chr1:119963373 | G | C | 58 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(55): Show |
58 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(55): Show |
intron_variant | MODIFIER | c.1915+201C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963373 | |||||||
| chr1:119963373 | G | T | 1 | a0001c0001t0001g0077 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1915+201C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963373 | |||||||
| chr1:119963409 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1915+165C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963409 | |||||||
| chr1:119963485 | G | A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.1915+89C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963485 | |||||||
| chr1:119964163 | T | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.1682-356A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964163 | |||||||
| chr1:119964172 | C | A | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1682-365G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964172 | |||||||
| chr1:119964322 | T | C | 12 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(9): Show |
12 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1682-515A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964322 | |||||||
| chr1:119964365 | C | T | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1682-558G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964365 | |||||||
| chr1:119964395 | T | C | 2 | a0001c0001t0001g0084 a0001c0001t0001g0090 |
2 | HG00323.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1682-588A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964395 | |||||||
| chr1:119964424 | C | G | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1682-617G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964424 | |||||||
| chr1:119964516 | C | G | 3 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 |
3 | HG02965.hp2 HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1682-709G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964516 | |||||||
| chr1:119965901 | A | G | 72 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(69): Show |
73 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.1568-335T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119965901 | |||||||
| chr1:119965945 | A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1568-379T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119965945 | |||||||
| chr1:119966074 | T | A | 4 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.1567+302A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966074 | |||||||
| chr1:119966180 | T | C | 99 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(96): Show |
100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.1567+196A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966180 | |||||||
| chr1:119966364 | G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1567+12C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966364 | |||||||
| chr1:119966624 | A | G | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1454-135T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966624 | |||||||
| chr1:119966684 | G | A | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1454-195C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966684 | |||||||
| chr1:119966729 | A | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1454-240T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966729 | |||||||
| chr1:119966903 | G | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1454-414C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966903 | |||||||
| chr1:119967160 | A | G | 2 | a0001c0001t0001g0095 a0001c0001t0001g0134 |
2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.1453+273T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967160 | |||||||
| chr1:119967313 | C | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1453+120G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967313 | |||||||
| chr1:119967366 | G | C | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1453+67C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967366 | |||||||
| chr1:119967754 | T | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1265-133A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967754 | |||||||
| chr1:119967784 | G | A | 1 | a0001c0003t0003g0150 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1265-163C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967784 | |||||||
| chr1:119967799 | G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1265-178C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967799 | |||||||
| chr1:119967805 | CAT | C | 2 | a0001c0003t0003g0144 a0001c0003t0003g0146 |
2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.1265-186_1265-185d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967805 | |||||||
| chr1:119968258 | A | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1109-26T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968258 | |||||||
| chr1:119968336 | G | C | 1 | a0001c0002t0002g0036 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1109-104C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968336 | |||||||
| chr1:119968377 | G | A | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1109-145C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968377 | |||||||
| chr1:119968390 | G | T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1109-158C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968390 | |||||||
| chr1:119968450 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.1109-218A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968450 | |||||||
| chr1:119968763 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1109-531C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968763 | |||||||
| chr1:119968925 | T | C | 5 | a0001c0001t0001g0069 a0001c0001t0007g0164 a0001c0001t0007g0165 others(2): Show |
5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.1108+586A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968925 | |||||||
| chr1:119969154 | C | A | 2 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1108+357G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969154 | |||||||
| chr1:119969481 | T | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.1108+30A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969481 | |||||||
| chr1:119969493 | C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1108+18G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969493 | |||||||
| chr1:119969910 | C | G | 3 | a0001c0007t0004g0129 a0001c0007t0004g0131 a0011c0024t0004g0128 |
3 | HG02572.hp1 HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.875-166G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119969910 | |||||||
| chr1:119970494 | A | G | 98 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.875-750T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970494 | |||||||
| chr1:119970823 | C | T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.875-1079G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970823 | |||||||
| chr1:119970824 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970824 | |||||||
| chr1:119970925 | C | T | 44 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(41): Show |
45 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.875-1181G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970925 | |||||||
| chr1:119971756 | G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.875-2012C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119971756 | |||||||
| chr1:119971872 | T | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.875-2128A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119971872 | |||||||
| chr1:119972264 | T | C | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.875-2520A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972264 | |||||||
| chr1:119972621 | A | T | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.875-2877T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972621 | |||||||
| chr1:119972661 | T | C | 17 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(14): Show |
18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.875-2917A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972661 | |||||||
| chr1:119972718 | T | C | 1 | a0001c0004t0004g0113 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.875-2974A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972718 | |||||||
| chr1:119972824 | A | T | 1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.875-3080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972824 | |||||||
| chr1:119972931 | T | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-3187A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972931 | |||||||
| chr1:119973137 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.875-3393A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973137 | |||||||
| chr1:119973353 | CTATGA | C | 59 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(56): Show |
59 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.875-3614_875-3610d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973353 | |||||||
| chr1:119973965 | CAAGTA | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-4226_875-4222d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973965 | |||||||
| chr1:119973995 | C | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.875-4251G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973995 | |||||||
| chr1:119974017 | T | C | 1 | a0003c0009t0002g0033 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.875-4273A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974017 | |||||||
| chr1:119974480 | C | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.875-4736G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974480 | |||||||
| chr1:119974894 | A | G | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.875-5150T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974894 | |||||||
| chr1:119974939 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.875-5195T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974939 | |||||||
| chr1:119974940 | G | GCTGGCAC others(8): Show |
1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.875-5197_875-5196i others(17): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974940 | |||||||
| chr1:119974947 | G | C | 5 | a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0088 others(2): Show |
5 | HG01978.hp1 HG02602.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.875-5203C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974947 | |||||||
| chr1:119974963 | C | G | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.875-5219G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974963 | |||||||
| chr1:119975079 | T | C | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.875-5335A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975079 | |||||||
| chr1:119975336 | G | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-5592C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975336 | |||||||
| chr1:119975340 | G | A | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.875-5596C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975340 | |||||||
| chr1:119975578 | G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-5834C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975578 | |||||||
| chr1:119975644 | C | CA | 9 | a0001c0002t0002g0011 a0001c0002t0002g0036 a0001c0002t0006g0007 others(6): Show |
9 | HG02055.hp2 HG02145.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.875-5901dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | |||||||
| chr1:119975644 | CA | C | 63 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(60): Show |
63 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show |
intron_variant | MODIFIER | c.875-5901delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | |||||||
| chr1:119975644 | CAA | C | 10 | a0001c0001t0001g0066 a0001c0003t0003g0146 a0001c0003t0003g0147 others(7): Show |
10 | HG02055.hp1 HG02280.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.875-5902_875-5901d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | |||||||
| chr1:119975644 | CAAA | C | 19 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0148 others(16): Show |
19 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(16): Show |
intron_variant | MODIFIER | c.875-5903_875-5901d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | |||||||
| chr1:119975903 | G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-6159C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975903 | |||||||
| chr1:119975917 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.875-6173C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975917 | |||||||
| chr1:119976054 | A | T | 2 | a0003c0009t0002g0033 a0003c0009t0002g0050 |
2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.875-6310T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976054 | |||||||
| chr1:119976214 | C | T | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.875-6470G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976214 | |||||||
| chr1:119976376 | G | A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-6632C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976376 | |||||||
| chr1:119976644 | T | C | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.875-6900A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976644 | |||||||
| chr1:119976654 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.875-6910C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976654 | |||||||
| chr1:119976931 | T | C | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-7187A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976931 | |||||||
| chr1:119976995 | C | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-7251G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976995 | |||||||
| chr1:119977117 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.875-7373G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977117 | |||||||
| chr1:119977312 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.875-7568C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977312 | |||||||
| chr1:119977313 | C | A | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.875-7569G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977313 | |||||||
| chr1:119977355 | A | G | 2 | a0001c0001t0001g0107 a0001c0013t0001g0108 |
2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.875-7611T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977355 | |||||||
| chr1:119977509 | T | C | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.875-7765A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977509 | |||||||
| chr1:119977903 | G | A | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.875-8159C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977903 | |||||||
| chr1:119978092 | T | A | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.875-8348A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978092 | |||||||
| chr1:119978120 | C | T | 2 | a0001c0004t0004g0113 a0001c0004t0004g0114 |
2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.875-8376G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978120 | |||||||
| chr1:119978121 | G | A | 5 | a0001c0002t0002g0021 a0001c0002t0002g0032 a0001c0002t0002g0034 others(2): Show |
5 | NA18950.hp1 NA18975.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.875-8377C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978121 | |||||||
| chr1:119978442 | T | G | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.874+8518A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978442 | |||||||
| chr1:119978946 | T | C | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.874+8014A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978946 | |||||||
| chr1:119979055 | T | A | 2 | a0001c0001t0001g0059 a0001c0001t0001g0060 |
2 | HG03710.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.874+7905A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979055 | |||||||
| chr1:119979104 | T | C | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.874+7856A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979104 | |||||||
| chr1:119979137 | T | C | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.874+7823A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979137 | |||||||
| chr1:119979717 | T | C | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.874+7243A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979717 | |||||||
| chr1:119979743 | G | T | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+7217C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979743 | |||||||
| chr1:119979745 | A | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.874+7215T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979745 | |||||||
| chr1:119979756 | T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.874+7204A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979756 | |||||||
| chr1:119979814 | TAGTG | T | 14 | a0001c0001t0013g0125 a0001c0002t0002g0040 a0001c0004t0004g0123 others(11): Show |
14 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+7142_874+7145d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979814 | |||||||
| chr1:119980086 | A | T | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+6874T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980086 | |||||||
| chr1:119980141 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+6819G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980141 | |||||||
| chr1:119980206 | T | C | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+6754A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980206 | |||||||
| chr1:119980455 | C | T | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+6505G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980455 | |||||||
| chr1:119980488 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.874+6472A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980488 | |||||||
| chr1:119980565 | T | C | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.874+6395A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980565 | |||||||
| chr1:119980788 | A | G | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+6172T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980788 | |||||||
| chr1:119980829 | G | C | 1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.874+6131C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980829 | |||||||
| chr1:119980891 | G | A | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+6069C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980891 | |||||||
| chr1:119981078 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.874+5882C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981078 | |||||||
| chr1:119981131 | C | T | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.874+5829G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981131 | |||||||
| chr1:119981187 | C | CCATCCAT others(15): Show |
2 | a0001c0001t0001g0066 a0001c0001t0001g0073 |
2 | HG01109.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.874+5751_874+5772d others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981187 | |||||||
| chr1:119981279 | T | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.874+5681A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981279 | |||||||
| chr1:119981708 | G | A | 2 | a0001c0005t0001g0140 a0001c0005t0016g0141 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.874+5252C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981708 | |||||||
| chr1:119981753 | G | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.874+5207C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981753 | |||||||
| chr1:119982040 | C | T | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+4920G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982040 | |||||||
| chr1:119982811 | G | A | 2 | a0003c0009t0002g0033 a0003c0009t0002g0050 |
2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.874+4149C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982811 | |||||||
| chr1:119982931 | C | T | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.874+4029G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982931 | |||||||
| chr1:119982996 | C | G | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.874+3964G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982996 | |||||||
| chr1:119983448 | C | T | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.874+3512G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119983448 | |||||||
| chr1:119984232 | A | C | 1 | a0001c0008t0002g0022 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.874+2728T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984232 | |||||||
| chr1:119984274 | C | A | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+2686G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984274 | |||||||
| chr1:119984359 | C | T | 62 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(59): Show |
63 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.874+2601G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984359 | |||||||
| chr1:119984880 | A | G | 156 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(153): Show |
157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.874+2080T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984880 | |||||||
| chr1:119984880 | A | T | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.874+2080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984880 | |||||||
| chr1:119984960 | G | A | 1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.874+2000C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984960 | |||||||
| chr1:119985485 | A | T | 4 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(1): Show |
4 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+1475T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985485 | |||||||
| chr1:119985689 | A | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+1271T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985689 | |||||||
| chr1:119985857 | CA | C | 18 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(15): Show |
19 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(16): Show |
intron_variant | MODIFIER | c.874+1102delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985857 | |||||||
| chr1:119985945 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+1015A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985945 | |||||||
| chr1:119986250 | A | C | 5 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 others(2): Show |
5 | HG02148.hp1 HG02273.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.874+710T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986250 | |||||||
| chr1:119986309 | G | A | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.874+651C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986309 | |||||||
| chr1:119986648 | G | A | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.874+312C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986648 | |||||||
| chr1:119986743 | T | C | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.874+217A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986743 | |||||||
| chr1:119986833 | C | G | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.874+127G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986833 | |||||||
| chr1:119986851 | T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.874+109A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986851 | |||||||
| chr1:119987127 | A | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.752-45T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987127 | |||||||
| chr1:119987319 | C | T | 2 | a0001c0003t0003g0144 a0001c0003t0003g0146 |
2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.752-237G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987319 | |||||||
| chr1:119987340 | A | G | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.752-258T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987340 | |||||||
| chr1:119988436 | G | A | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.752-1354C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988436 | |||||||
| chr1:119988510 | T | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.752-1428A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988510 | |||||||
| chr1:119988698 | G | A | 3 | a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0001g0136 |
3 | HG01978.hp1 HG02602.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.752-1616C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988698 | |||||||
| chr1:119988841 | G | A | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.752-1759C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988841 | |||||||
| chr1:119988999 | C | T | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.752-1917G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988999 | |||||||
| chr1:119989350 | G | A | 50 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(47): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.752-2268C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989350 | |||||||
| chr1:119989418 | A | C | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.752-2336T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989418 | |||||||
| chr1:119989514 | T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.752-2432A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989514 | |||||||
| chr1:119989586 | C | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.752-2504G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989586 | |||||||
| chr1:119989608 | T | A | 11 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(8): Show |
11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.752-2526A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989608 | |||||||
| chr1:119989653 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.752-2571T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989653 | |||||||
| chr1:119989655 | T | TAGGTA | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-2578_752-2574d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989655 | |||||||
| chr1:119989947 | G | A | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-2865C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989947 | |||||||
| chr1:119990072 | C | G | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.752-2990G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990072 | |||||||
| chr1:119990271 | G | A | 7 | a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0153 others(4): Show |
7 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(4): Show |
intron_variant | MODIFIER | c.752-3189C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990271 | |||||||
| chr1:119990459 | G | T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.752-3377C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990459 | |||||||
| chr1:119990601 | T | C | 1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.752-3519A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990601 | |||||||
| chr1:119990786 | G | A | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.752-3704C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990786 | |||||||
| chr1:119990918 | T | C | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.752-3836A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990918 | |||||||
| chr1:119991151 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.752-4069C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991151 | |||||||
| chr1:119991252 | C | T | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.752-4170G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991252 | |||||||
| chr1:119991254 | T | C | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4172A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991254 | |||||||
| chr1:119991322 | G | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.752-4240C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991322 | |||||||
| chr1:119991384 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4302G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991384 | |||||||
| chr1:119991468 | T | TC | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4387dupG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991468 | |||||||
| chr1:119991752 | G | A | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.752-4670C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991752 | |||||||
| chr1:119991814 | G | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.752-4732C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991814 | |||||||
| chr1:119991820 | C | T | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.752-4738G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991820 | |||||||
| chr1:119991826 | C | CA | 15 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(12): Show |
15 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.752-4745dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991826 | |||||||
| chr1:119991826 | C | CAA | 8 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(5): Show |
8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.752-4746_752-4745d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991826 | |||||||
| chr1:119991839 | A | AAAAAG | 18 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(15): Show |
18 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(15): Show |
intron_variant | MODIFIER | c.752-4762_752-4758d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991839 | |||||||
| chr1:119991867 | C | A | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.752-4785G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991867 | |||||||
| chr1:119991942 | A | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.752-4860T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991942 | |||||||
| chr1:119991968 | T | G | 4 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.752-4886A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991968 | |||||||
| chr1:119992183 | C | T | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+4814G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992183 | |||||||
| chr1:119992304 | C | G | 11 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(8): Show |
11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.751+4693G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992304 | |||||||
| chr1:119992338 | G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.751+4659C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992338 | |||||||
| chr1:119992511 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.751+4486G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992511 | |||||||
| chr1:119992902 | A | T | 4 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+4095T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992902 | |||||||
| chr1:119993383 | C | T | 1 | a0001c0002t0002g0038 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.751+3614G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993383 | |||||||
| chr1:119993766 | A | G | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.751+3231T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993766 | |||||||
| chr1:119993807 | G | A | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.751+3190C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993807 | |||||||
| chr1:119994132 | A | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.751+2865T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994132 | |||||||
| chr1:119994339 | A | G | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.751+2658T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994339 | |||||||
| chr1:119994349 | C | A | 1 | a0001c0002t0002g0031 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.751+2648G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994349 | |||||||
| chr1:119994428 | T | C | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+2569A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994428 | |||||||
| chr1:119994519 | CAT | C | 21 | a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 others(18): Show |
21 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.751+2476_751+2477d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | |||||||
| chr1:119994519 | CATAT | C | 9 | a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0019 others(6): Show |
9 | HG01081.hp2 HG02451.hp2 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.751+2474_751+2477d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | |||||||
| chr1:119994519 | CATATAT | C | 2 | a0001c0002t0002g0041 a0001c0008t0002g0022 |
2 | HG01361.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.751+2472_751+2477d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | |||||||
| chr1:119994523 | T | TAC | 2 | a0001c0002t0002g0029 a0001c0002t0002g0035 |
2 | HG02922.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.751+2473_751+2474i others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | |||||||
| chr1:119994523 | TATATATA others(1): Show |
T | 4 | a0001c0002t0002g0001 a0001c0002t0002g0020 a0001c0002t0002g0025 others(1): Show |
5 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+2466_751+2473d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | |||||||
| chr1:119994523 | TATATATA others(11): Show |
T | 2 | a0001c0008t0002g0023 a0001c0008t0002g0024 |
2 | HG02280.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.751+2456_751+2473d others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | |||||||
| chr1:119994525 | T | C | 7 | a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0035 others(4): Show |
7 | HG01109.hp1 HG02109.hp1 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.751+2472A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | |||||||
| chr1:119994525 | TATATAC | T | 2 | a0001c0002t0006g0007 a0001c0002t0006g0009 |
2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.751+2466_751+2471d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | |||||||
| chr1:119994525 | TATATACA others(5): Show |
T | 2 | a0001c0002t0015g0051 a0001c0004t0004g0119 |
2 | HG02109.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.751+2460_751+2471d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | |||||||
| chr1:119994527 | T | C | 28 | a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 others(25): Show |
28 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.751+2470A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | |||||||
| chr1:119994527 | TATAC | T | 5 | a0001c0001t0001g0101 a0001c0007t0004g0129 a0001c0007t0004g0131 others(2): Show |
5 | HG01891.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+2466_751+2469d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | |||||||
| chr1:119994527 | TATACAC | T | 8 | a0001c0001t0001g0078 a0001c0001t0013g0125 a0001c0002t0006g0008 others(5): Show |
8 | HG00140.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.751+2464_751+2469d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | |||||||
| chr1:119994527 | TATACACA others(1): Show |
T | 8 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(5): Show |
8 | HG00735.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.751+2462_751+2469d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | |||||||
| chr1:119994527 | TATACACA others(3): Show |
T | 2 | a0001c0001t0001g0091 a0001c0003t0003g0148 |
2 | HG01361.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.751+2460_751+2469d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | |||||||
| chr1:119994529 | T | C | 38 | a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 others(35): Show |
38 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.751+2468A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TAC | T | 7 | a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0100 others(4): Show |
7 | HG02257.hp1 HG02970.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.751+2466_751+2467d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACAC | T | 16 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(13): Show |
16 | HG01109.hp2 HG01243.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.751+2464_751+2467d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACACAC | T | 2 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | HG01433.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.751+2462_751+2467d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACACACA others(1): Show |
T | 37 | a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0072 others(34): Show |
37 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.751+2460_751+2467d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACACACA others(3): Show |
T | 19 | a0001c0001t0001g0093 a0001c0003t0003g0144 a0001c0003t0003g0145 others(16): Show |
19 | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(16): Show |
intron_variant | MODIFIER | c.751+2458_751+2467d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACACACA others(5): Show |
T | 8 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(5): Show |
8 | HG02055.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.751+2456_751+2467d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994529 | TACACACA others(7): Show |
T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.751+2454_751+2467d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | |||||||
| chr1:119994535 | C | T | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.751+2462G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994535 | |||||||
| chr1:119994543 | C | T | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.751+2454G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994543 | |||||||
| chr1:119994563 | CACACACA others(3): Show |
C | 1 | a0001c0006t0001g0054 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.751+2424_751+2433d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994563 | |||||||
| chr1:119994678 | A | G | 1 | a0001c0002t0002g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.751+2319T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994678 | |||||||
| chr1:119994707 | G | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.751+2290C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994707 | |||||||
| chr1:119995710 | T | C | 1 | a0001c0002t0002g0038 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.751+1287A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119995710 | |||||||
| chr1:119996238 | C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.751+759G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996238 | |||||||
| chr1:119996251 | G | A | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.751+746C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996251 | |||||||
| chr1:119996324 | T | C | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+673A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996324 | |||||||
| chr1:119996414 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.751+583T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996414 | |||||||
| chr1:119996974 | T | C | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.751+23A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996974 | |||||||
| chr1:119997805 | C | T | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.416-473G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997805 | |||||||
| chr1:119997843 | G | A | 2 | a0001c0010t0004g0120 a0001c0010t0004g0121 |
2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.416-511C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997843 | |||||||
| chr1:119997853 | G | A | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.416-521C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997853 | |||||||
| chr1:119997905 | C | T | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.416-573G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997905 | |||||||
| chr1:119997922 | C | G | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.416-590G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997922 | |||||||
| chr1:119997972 | T | TAA | 4 | a0001c0003t0003g0150 a0001c0003t0003g0153 a0001c0003t0003g0154 others(1): Show |
4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-641_416-640ins others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997972 | |||||||
| chr1:119997973 | C | A | 4 | a0001c0003t0003g0150 a0001c0003t0003g0153 a0001c0003t0003g0154 others(1): Show |
4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-641G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | |||||||
| chr1:119997973 | C | CA | 24 | a0001c0001t0001g0063 a0001c0001t0001g0098 a0001c0001t0001g0100 others(21): Show |
24 | HG01978.hp1 HG02055.hp1 HG02109.hp2 others(21): Show |
intron_variant | MODIFIER | c.416-642dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | |||||||
| chr1:119997973 | C | CAA | 22 | a0001c0001t0013g0125 a0001c0003t0003g0144 a0001c0003t0003g0145 others(19): Show |
22 | HG01978.hp2 HG02145.hp1 HG02273.hp1 others(19): Show |
intron_variant | MODIFIER | c.416-643_416-642dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | |||||||
| chr1:119998105 | A | G | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-773T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998105 | |||||||
| chr1:119998640 | A | G | 6 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 others(3): Show |
6 | HG02132.hp2 HG02148.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.416-1308T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998640 | |||||||
| chr1:119998796 | C | T | 3 | a0001c0008t0002g0022 a0001c0008t0002g0023 a0001c0008t0002g0024 |
3 | HG02280.hp2 HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.416-1464G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998796 | |||||||
| chr1:119999152 | G | A | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-1820C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999152 | |||||||
| chr1:119999210 | C | T | 27 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(24): Show |
27 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(24): Show |
intron_variant | MODIFIER | c.416-1878G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999210 | |||||||
| chr1:119999218 | C | T | 1 | a0001c0002t0002g0018 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.416-1886G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999218 | |||||||
| chr1:119999460 | GAAGGAAC others(5): Show |
G | 1 | a0001c0002t0002g0032 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.416-2140_416-2129d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999460 | |||||||
| chr1:119999873 | C | A | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.416-2541G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999873 | |||||||
| chr1:119999890 | G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2558C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999890 | |||||||
| chr1:119999917 | G | GAGAA | 2 | a0001c0001t0001g0057 a0001c0003t0003g0161 |
2 | HG01433.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.416-2589_416-2586d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | G | GAGAAAGA others(5): Show |
1 | a0001c0001t0001g0069 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.416-2597_416-2586d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | GAGAA | G | 10 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 others(7): Show |
10 | HG00609.hp1 HG00738.hp1 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.416-2589_416-2586d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | GAGAAAGA others(1): Show |
G | 3 | a0001c0012t0001g0076 a0001c0013t0001g0108 a0005c0027t0001g0142 |
3 | HG00280.hp2 HG00408.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.416-2593_416-2586d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | GAGAAAGA others(5): Show |
G | 3 | a0001c0001t0001g0080 a0001c0001t0019g0167 a0009c0017t0001g0079 |
3 | HG03239.hp2 HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.416-2597_416-2586d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | GAGAAAGA others(9): Show |
G | 2 | a0001c0001t0001g0083 a0007c0023t0004g0081 |
2 | HG01891.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.416-2601_416-2586d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999917 | GAGAAAGA others(13): Show |
G | 1 | a0001c0001t0001g0097 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.416-2605_416-2586d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | |||||||
| chr1:119999919 | GAAAGAAA others(3): Show |
G | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.416-2597_416-2588d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999919 | |||||||
| chr1:119999921 | A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.416-2589T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999921 | |||||||
| chr1:119999948 | AAAGAAAG others(33): Show |
A | 2 | a0001c0004t0004g0127 a0001c0021t0004g0122 |
2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.416-2656_416-2617d others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999948 | |||||||
| chr1:119999952 | AAAGAAAG others(29): Show |
A | 2 | a0001c0004t0008g0109 a0001c0004t0008g0111 |
2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.416-2656_416-2621d others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999952 | |||||||
| chr1:119999956 | AAAGAAAG others(17): Show |
A | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.416-2648_416-2625d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | |||||||
| chr1:119999956 | AAAGAAAG others(21): Show |
A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2652_416-2625d others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | |||||||
| chr1:119999956 | AAAGAAAG others(25): Show |
A | 4 | a0001c0002t0002g0030 a0001c0004t0008g0110 a0001c0005t0003g0143 others(1): Show |
4 | HG02145.hp2 HG02895.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2656_416-2625d others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | |||||||
| chr1:119999960 | AAAGAAAG others(21): Show |
A | 6 | a0001c0001t0013g0125 a0001c0002t0002g0015 a0001c0003t0003g0145 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.416-2656_416-2629d others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999960 | |||||||
| chr1:119999964 | AAAGAAAG others(9): Show |
A | 2 | a0001c0001t0001g0102 a0001c0002t0002g0046 |
2 | HG01081.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.416-2648_416-2633d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | |||||||
| chr1:119999964 | AAAGAAAG others(13): Show |
A | 2 | a0001c0005t0003g0156 a0001c0005t0003g0158 |
2 | HG02055.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.416-2652_416-2633d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | |||||||
| chr1:119999964 | AAAGAAAG others(17): Show |
A | 10 | a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0018 others(7): Show |
10 | HG00735.hp1 HG01109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.416-2656_416-2633d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | |||||||
| chr1:119999968 | A | G | 1 | a0009c0017t0001g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.416-2636T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | |||||||
| chr1:119999968 | AAAGAAAG others(5): Show |
A | 3 | a0001c0001t0001g0103 a0001c0002t0002g0047 a0001c0002t0002g0049 |
3 | HG00280.hp1 HG00323.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.416-2648_416-2637d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | |||||||
| chr1:119999968 | AAAGAAAG others(9): Show |
A | 2 | a0001c0002t0002g0034 a0001c0005t0016g0141 |
2 | NA18975.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.416-2652_416-2637d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | |||||||
| chr1:119999968 | AAAGAAAG others(13): Show |
A | 18 | a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0028 others(15): Show |
18 | HG00609.hp2 HG01361.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.416-2656_416-2637d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | |||||||
| chr1:119999972 | A | G | 14 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 others(11): Show |
14 | HG00140.hp2 HG01891.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.416-2640T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | |||||||
| chr1:119999972 | AAAGAAAG others(1): Show |
A | 2 | a0001c0001t0001g0061 a0001c0002t0002g0048 |
2 | HG01243.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.416-2648_416-2641d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | |||||||
| chr1:119999972 | AAAGAAAG others(5): Show |
A | 4 | a0001c0002t0002g0021 a0001c0002t0002g0044 a0001c0003t0003g0160 others(1): Show |
4 | HG02818.hp2 HG03471.hp1 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2652_416-2641d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | |||||||
| chr1:119999972 | AAAGAAAG others(9): Show |
A | 15 | a0001c0002t0002g0014 a0001c0002t0002g0031 a0001c0002t0002g0037 others(12): Show |
15 | HG02071.hp2 HG02280.hp2 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.416-2656_416-2641d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | |||||||
| chr1:119999976 | A | AAAGAAAG others(5): Show |
1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.416-2645_416-2644i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | A | AAAGAAAG others(5): Show |
2 | a0001c0001t0001g0059 a0001c0001t0001g0077 |
2 | HG00735.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.416-2645_416-2644i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | A | AAAGG | 4 | a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0095 others(1): Show |
4 | HG01081.hp1 HG01433.hp2 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-2648_416-2645d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | A | G | 29 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 others(26): Show |
29 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(26): Show |
intron_variant | MODIFIER | c.416-2644T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | AAAGG | A | 4 | a0001c0001t0012g0005 a0001c0002t0002g0040 a0001c0002t0015g0051 others(1): Show |
4 | HG00140.hp1 HG03490.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-2648_416-2645d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | AAAGGAAG others(1): Show |
A | 8 | a0001c0002t0002g0011 a0001c0002t0002g0020 a0001c0002t0002g0025 others(5): Show |
8 | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-2652_416-2645d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | AAAGGAAG others(5): Show |
A | 13 | a0001c0002t0002g0001 a0001c0002t0002g0026 a0001c0002t0002g0042 others(10): Show |
14 | HG01978.hp2 HG02109.hp1 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.416-2656_416-2645d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999976 | AAAGGAAG others(9): Show |
A | 2 | a0001c0004t0004g0119 a0002c0011t0009g0002 |
2 | HG02109.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.416-2660_416-2645d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | |||||||
| chr1:119999980 | G | A | 4 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0092 others(1): Show |
4 | HG01433.hp1 HG03486.hp1 HG04184.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2648C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999980 | |||||||
| chr1:119999984 | G | A | 5 | a0001c0001t0001g0057 a0001c0002t0002g0040 a0001c0002t0015g0051 others(2): Show |
5 | HG01433.hp1 HG03490.hp2 HG04184.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-2652C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999984 | |||||||
| chr1:119999988 | G | A | 8 | a0001c0002t0002g0011 a0001c0002t0002g0020 a0001c0002t0002g0025 others(5): Show |
8 | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-2656C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999988 | |||||||
| chr1:119999992 | G | A | 3 | a0001c0003t0003g0161 a0001c0007t0004g0131 a0002c0011t0009g0003 |
3 | HG02572.hp1 HG02723.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.416-2660C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999992 | |||||||
| chr1:119999996 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-2664C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999996 | |||||||
| chr1:120000161 | T | C | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.416-2829A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000161 | |||||||
| chr1:120000179 | A | C | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-2847T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000179 | |||||||
| chr1:120000188 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2856A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000188 | |||||||
| chr1:120000258 | G | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.416-2926C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000258 | |||||||
| chr1:120000314 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2982A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000314 | |||||||
| chr1:120000327 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.416-2995G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000327 | |||||||
| chr1:120000490 | T | C | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.416-3158A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000490 | |||||||
| chr1:120000529 | T | C | 5 | a0001c0005t0003g0139 a0001c0005t0003g0156 a0001c0005t0003g0157 others(2): Show |
5 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-3197A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000529 | |||||||
| chr1:120000532 | C | CA | 52 | a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0091 others(49): Show |
53 | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.416-3201dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000532 | |||||||
| chr1:120000532 | C | CAA | 7 | a0001c0002t0002g0032 a0001c0005t0003g0143 a0001c0007t0017g0132 others(4): Show |
7 | HG02145.hp2 HG02258.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.416-3202_416-3201d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000532 | |||||||
| chr1:120000602 | CA | C | 5 | a0001c0001t0001g0069 a0001c0001t0007g0164 a0001c0001t0007g0165 others(2): Show |
5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-3271delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000602 | |||||||
| chr1:120000726 | C | T | 2 | a0001c0008t0002g0024 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.416-3394G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000726 | |||||||
| chr1:120000885 | A | G | 62 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(59): Show |
62 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.416-3553T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000885 | |||||||
| chr1:120001059 | T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-3727A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001059 | |||||||
| chr1:120001143 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-3811G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001143 | |||||||
| chr1:120001284 | G | A | 1 | a0001c0002t0002g0015 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.416-3952C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001284 | |||||||
| chr1:120001287 | G | A | 12 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0005g0115 others(9): Show |
12 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.416-3955C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001287 | |||||||
| chr1:120001316 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.416-3984A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001316 | |||||||
| chr1:120001327 | G | C | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.416-3995C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001327 | |||||||
| chr1:120001419 | C | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+3910G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001419 | |||||||
| chr1:120001490 | G | C | 8 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0005g0115 others(5): Show |
8 | HG02257.hp2 HG02258.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.415+3839C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001490 | |||||||
| chr1:120001567 | A | G | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.415+3762T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001567 | |||||||
| chr1:120001708 | A | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.415+3621T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001708 | |||||||
| chr1:120001710 | C | G | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+3619G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001710 | |||||||
| chr1:120001744 | G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.415+3585C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001744 | |||||||
| chr1:120001777 | G | T | 1 | a0001c0002t0002g0046 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.415+3552C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001777 | |||||||
| chr1:120002399 | A | T | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.415+2930T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002399 | |||||||
| chr1:120002494 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2835T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002494 | |||||||
| chr1:120002497 | T | G | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+2832A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002497 | |||||||
| chr1:120002543 | T | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.415+2786A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002543 | |||||||
| chr1:120002579 | A | C | 1 | a0001c0002t0002g0047 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.415+2750T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002579 | |||||||
| chr1:120002599 | T | C | 1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.415+2730A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002599 | |||||||
| chr1:120002690 | A | G | 1 | a0001c0004t0008g0110 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.415+2639T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002690 | |||||||
| chr1:120002825 | C | T | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.415+2504G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002825 | |||||||
| chr1:120002852 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2477A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002852 | |||||||
| chr1:120003183 | C | T | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.415+2146G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003183 | |||||||
| chr1:120003251 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2078A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003251 | |||||||
| chr1:120003308 | G | A | 20 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(17): Show |
20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.415+2021C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003308 | |||||||
| chr1:120003465 | C | T | 1 | a0003c0009t0002g0033 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.415+1864G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003465 | |||||||
| chr1:120003625 | T | A | 4 | a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 others(1): Show |
4 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.415+1704A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003625 | |||||||
| chr1:120003661 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1668G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003661 | |||||||
| chr1:120003715 | C | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1614G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003715 | |||||||
| chr1:120003962 | A | G | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.415+1367T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003962 | |||||||
| chr1:120004127 | A | G | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.415+1202T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004127 | |||||||
| chr1:120004220 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1109C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004220 | |||||||
| chr1:120004227 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1102G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004227 | |||||||
| chr1:120004318 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.415+1011C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004318 | |||||||
| chr1:120004335 | C | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.415+994G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004335 | |||||||
| chr1:120004499 | C | T | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.415+830G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004499 | |||||||
| chr1:120004780 | AT | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+548delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004780 | |||||||
| chr1:120004795 | C | T | 1 | a0001c0006t0001g0055 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.415+534G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004795 | |||||||
| chr1:120004797 | G | T | 1 | a0001c0006t0001g0055 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.415+532C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004797 | |||||||
| chr1:120005072 | A | G | 69 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(66): Show |
70 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.415+257T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120005072 | |||||||
| chr1:120005124 | A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+205T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120005124 | |||||||
| chr1:120005942 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-354C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005942 | |||||||
| chr1:120005974 | A | C | 1 | a0001c0001t0001g0067 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.156-386T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005974 | |||||||
| chr1:120005990 | T | C | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.156-402A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005990 | |||||||
| chr1:120006064 | G | C | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-476C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006064 | |||||||
| chr1:120006343 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.156-755G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006343 | |||||||
| chr1:120006662 | T | C | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.156-1074A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006662 | |||||||
| chr1:120007044 | C | A | 1 | a0001c0002t0002g0018 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.156-1456G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007044 | |||||||
| chr1:120007104 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-1516G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007104 | |||||||
| chr1:120007180 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-1592G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007180 | |||||||
| chr1:120007379 | C | A | 2 | a0001c0005t0001g0140 a0001c0005t0016g0141 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.156-1791G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007379 | |||||||
| chr1:120007438 | G | T | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.156-1850C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007438 | |||||||
| chr1:120007499 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-1911G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007499 | |||||||
| chr1:120007583 | G | A | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.156-1995C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007583 | |||||||
| chr1:120007708 | G | C | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.156-2120C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007708 | |||||||
| chr1:120007734 | TC | T | 2 | a0001c0004t0004g0127 a0001c0021t0004g0122 |
2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.156-2147delG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007734 | |||||||
| chr1:120007802 | G | T | 3 | a0001c0001t0001g0063 a0001c0001t0001g0100 a0007c0023t0004g0081 |
3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.156-2214C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007802 | |||||||
| chr1:120008078 | C | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-2490G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008078 | |||||||
| chr1:120008359 | C | A | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.156-2771G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008359 | |||||||
| chr1:120008556 | AAC | A | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.156-2970_156-2969d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008556 | |||||||
| chr1:120008886 | G | T | 1 | a0001c0008t0002g0023 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.156-3298C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008886 | |||||||
| chr1:120009047 | A | G | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.156-3459T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009047 | |||||||
| chr1:120009133 | G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.156-3545C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009133 | |||||||
| chr1:120009169 | T | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.156-3581A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009169 | |||||||
| chr1:120009194 | A | T | 6 | a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 others(3): Show |
6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.156-3606T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009194 | |||||||
| chr1:120009218 | T | C | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.156-3630A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009218 | |||||||
| chr1:120009317 | A | G | 87 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(84): Show |
88 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.156-3729T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009317 | |||||||
| chr1:120009592 | C | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-4004G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009592 | |||||||
| chr1:120009674 | C | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.156-4086G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009674 | |||||||
| chr1:120009723 | C | T | 84 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(81): Show |
85 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(82): Show |
intron_variant | MODIFIER | c.156-4135G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009723 | |||||||
| chr1:120010323 | A | C | 2 | a0001c0003t0003g0160 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.156-4735T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010323 | |||||||
| chr1:120010413 | G | A | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.156-4825C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010413 | |||||||
| chr1:120010563 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-4975A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010563 | |||||||
| chr1:120010676 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-5088G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010676 | |||||||
| chr1:120010722 | C | T | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.156-5134G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010722 | |||||||
| chr1:120010771 | C | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-5183G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010771 | |||||||
| chr1:120010813 | G | C | 1 | a0001c0005t0003g0156 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.156-5225C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010813 | |||||||
| chr1:120010970 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.156-5382G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010970 | |||||||
| chr1:120011041 | T | C | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.156-5453A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011041 | |||||||
| chr1:120011309 | T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-5721A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011309 | |||||||
| chr1:120011338 | G | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.156-5750C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011338 | |||||||
| chr1:120011373 | C | T | 59 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(56): Show |
59 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.156-5785G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011373 | |||||||
| chr1:120011378 | C | A | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.156-5790G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011378 | |||||||
| chr1:120011425 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-5837A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011425 | |||||||
| chr1:120011503 | A | G | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.156-5915T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011503 | |||||||
| chr1:120011511 | T | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-5923A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011511 | |||||||
| chr1:120011518 | C | A | 1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.156-5930G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011518 | |||||||
| chr1:120011608 | T | C | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-6020A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011608 | |||||||
| chr1:120011629 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.156-6041T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011629 | |||||||
| chr1:120011701 | C | T | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.156-6113G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011701 | |||||||
| chr1:120011739 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6151C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011739 | |||||||
| chr1:120011742 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6154G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011742 | |||||||
| chr1:120011748 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.156-6160C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011748 | |||||||
| chr1:120011780 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6192T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011780 | |||||||
| chr1:120011782 | C | T | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.156-6194G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011782 | |||||||
| chr1:120011876 | C | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-6288G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011876 | |||||||
| chr1:120011888 | C | T | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-6300G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011888 | |||||||
| chr1:120011972 | C | T | 1 | a0001c0021t0004g0122 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.156-6384G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011972 | |||||||
| chr1:120011994 | C | T | 2 | a0001c0001t0001g0107 a0001c0013t0001g0108 |
2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.156-6406G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011994 | |||||||
| chr1:120012002 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6414G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012002 | |||||||
| chr1:120012015 | C | CA | 10 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0095 others(7): Show |
10 | HG00735.hp1 HG02145.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.156-6428dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | |||||||
| chr1:120012015 | CA | C | 14 | a0001c0002t0002g0137 a0001c0002t0015g0051 a0001c0003t0011g0006 others(11): Show |
14 | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.156-6428delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | |||||||
| chr1:120012015 | CAA | C | 21 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(18): Show |
21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.156-6429_156-6428d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | |||||||
| chr1:120012167 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6579C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012167 | |||||||
| chr1:120012264 | T | C | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.156-6676A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012264 | |||||||
| chr1:120012284 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-6696G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012284 | |||||||
| chr1:120012507 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6919C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012507 | |||||||
| chr1:120012669 | C | G | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-7081G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012669 | |||||||
| chr1:120012674 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7086A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012674 | |||||||
| chr1:120012676 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7088C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012676 | |||||||
| chr1:120012760 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7172A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012760 | |||||||
| chr1:120012944 | C | T | 1 | a0001c0008t0002g0022 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.156-7356G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012944 | |||||||
| chr1:120013081 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-7493G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013081 | |||||||
| chr1:120013099 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7511A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013099 | |||||||
| chr1:120013269 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7681T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013269 | |||||||
| chr1:120013486 | A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7898T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013486 | |||||||
| chr1:120013536 | G | A | 1 | a0001c0002t0002g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.156-7948C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013536 | |||||||
| chr1:120013559 | C | T | 2 | a0003c0009t0002g0033 a0003c0009t0002g0050 |
2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.156-7971G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013559 | |||||||
| chr1:120013606 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.156-8018A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013606 | |||||||
| chr1:120013903 | A | C | 2 | a0001c0002t0002g0048 a0001c0025t0010g0004 |
2 | HG01243.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.156-8315T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013903 | |||||||
| chr1:120013976 | G | C | 1 | a0001c0002t0002g0018 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.156-8388C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013976 | |||||||
| chr1:120014047 | T | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.156-8459A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014047 | |||||||
| chr1:120014158 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-8570T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014158 | |||||||
| chr1:120014257 | T | C | 5 | a0001c0004t0004g0123 a0001c0004t0004g0124 a0001c0004t0004g0126 others(2): Show |
5 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.156-8669A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014257 | |||||||
| chr1:120014303 | A | C | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.156-8715T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014303 | |||||||
| chr1:120014991 | CT | C | 78 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(75): Show |
78 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.156-9404delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014991 | |||||||
| chr1:120014991 | CTT | C | 66 | a0001c0001t0001g0090 a0001c0002t0002g0001 a0001c0002t0002g0011 others(63): Show |
67 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.156-9405_156-9404d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014991 | |||||||
| chr1:120015009 | T | A | 2 | a0001c0001t0019g0167 a0001c0004t0004g0124 |
2 | HG02622.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.156-9421A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015009 | |||||||
| chr1:120015038 | A | C | 3 | a0001c0001t0001g0099 a0001c0003t0003g0160 a0001c0019t0001g0086 |
3 | HG02738.hp1 HG02818.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.156-9450T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015038 | |||||||
| chr1:120015102 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9514G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015102 | |||||||
| chr1:120015159 | AG | A | 3 | a0001c0001t0013g0125 a0001c0010t0004g0120 a0001c0010t0004g0121 |
3 | HG02723.hp1 HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.156-9572delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015159 | |||||||
| chr1:120015232 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9644G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015232 | |||||||
| chr1:120015432 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-9844C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015432 | |||||||
| chr1:120015446 | G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9858C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015446 | |||||||
| chr1:120015912 | A | G | 2 | a0001c0001t0001g0066 a0001c0001t0001g0073 |
2 | HG01109.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.156-10324T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015912 | |||||||
| chr1:120015942 | C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.156-10354G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015942 | |||||||
| chr1:120015950 | C | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.156-10362G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015950 | |||||||
| chr1:120015954 | C | CA | 11 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(8): Show |
11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.156-10367dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015954 | |||||||
| chr1:120015959 | A | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.156-10371T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015959 | |||||||
| chr1:120015987 | T | C | 1 | a0001c0004t0005g0116 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.156-10399A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015987 | |||||||
| chr1:120016018 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-10430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016018 | |||||||
| chr1:120016123 | T | C | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-10535A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016123 | |||||||
| chr1:120016175 | A | G | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.156-10587T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016175 | |||||||
| chr1:120016273 | A | G | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.156-10685T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016273 | |||||||
| chr1:120016525 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-10937G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016525 | |||||||
| chr1:120016652 | T | C | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-11064A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016652 | |||||||
| chr1:120016831 | G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.156-11243C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016831 | |||||||
| chr1:120016871 | T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.156-11283A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016871 | |||||||
| chr1:120017213 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.156-11625G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017213 | |||||||
| chr1:120017265 | T | C | 45 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(42): Show |
46 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.156-11677A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017265 | |||||||
| chr1:120017269 | C | A | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.156-11681G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017269 | |||||||
| chr1:120017270 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.156-11682T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017270 | |||||||
| chr1:120017319 | T | C | 46 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(43): Show |
47 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.156-11731A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017319 | |||||||
| chr1:120017384 | T | TA | 2 | a0001c0001t0001g0080 a0001c0003t0003g0147 |
2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11797dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017384 | |||||||
| chr1:120017523 | C | A | 2 | a0001c0001t0001g0080 a0001c0003t0003g0147 |
2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11935G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017523 | |||||||
| chr1:120017533 | A | G | 2 | a0001c0001t0001g0080 a0001c0003t0003g0147 |
2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11945T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017533 | |||||||
| chr1:120017696 | A | G | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-12108T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017696 | |||||||
| chr1:120017914 | G | A | 3 | a0001c0001t0001g0080 a0001c0003t0003g0147 a0001c0025t0010g0004 |
3 | HG02258.hp2 HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11992C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017914 | |||||||
| chr1:120017939 | C | T | 2 | a0001c0001t0001g0080 a0001c0003t0003g0147 |
2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11967G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017939 | |||||||
| chr1:120017975 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11931C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017975 | |||||||
| chr1:120018025 | T | A | 2 | a0001c0004t0004g0113 a0001c0004t0004g0114 |
2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.155+11881A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018025 | |||||||
| chr1:120018080 | A | C | 2 | a0001c0001t0001g0080 a0001c0003t0003g0147 |
2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11826T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018080 | |||||||
| chr1:120018188 | T | C | 1 | a0001c0002t0002g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.155+11718A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018188 | |||||||
| chr1:120018303 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11603C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018303 | |||||||
| chr1:120018431 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11475G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018431 | |||||||
| chr1:120018612 | C | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155+11294G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018612 | |||||||
| chr1:120018692 | T | C | 3 | a0001c0001t0001g0080 a0001c0003t0003g0147 a0001c0025t0010g0004 |
3 | HG02258.hp2 HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11214A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018692 | |||||||
| chr1:120018917 | T | G | 2 | a0001c0001t0001g0107 a0001c0013t0001g0108 |
2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.155+10989A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018917 | |||||||
| chr1:120019010 | C | T | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.155+10896G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019010 | |||||||
| chr1:120019351 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10555G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019351 | |||||||
| chr1:120019362 | G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+10544C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019362 | |||||||
| chr1:120019408 | A | ATTTCAAA others(6089): Show |
1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+10497_155+1049 others(6100): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019408 | |||||||
| chr1:120019458 | C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.155+10448G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019458 | |||||||
| chr1:120019546 | A | G | 13 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 others(10): Show |
13 | HG02071.hp1 HG02132.hp2 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.155+10360T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019546 | |||||||
| chr1:120019652 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10254C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019652 | |||||||
| chr1:120019669 | C | T | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.155+10237G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019669 | |||||||
| chr1:120019713 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10193G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019713 | |||||||
| chr1:120019714 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.155+10192A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019714 | |||||||
| chr1:120019724 | G | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+10182C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019724 | |||||||
| chr1:120019787 | T | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.155+10119A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019787 | |||||||
| chr1:120019980 | C | T | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.155+9926G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019980 | |||||||
| chr1:120020062 | G | C | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.155+9844C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020062 | |||||||
| chr1:120020118 | A | G | 1 | a0008c0026t0007g0163 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155+9788T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020118 | |||||||
| chr1:120020182 | T | C | 7 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(4): Show |
7 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.155+9724A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020182 | |||||||
| chr1:120020251 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9655G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020251 | |||||||
| chr1:120020591 | G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9315C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020591 | |||||||
| chr1:120020592 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9314C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020592 | |||||||
| chr1:120020786 | G | C | 83 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(80): Show |
84 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(81): Show |
intron_variant | MODIFIER | c.155+9120C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020786 | |||||||
| chr1:120020787 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9119A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020787 | |||||||
| chr1:120020907 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8999C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020907 | |||||||
| chr1:120021054 | A | G | 1 | a0001c0019t0001g0086 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.155+8852T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021054 | |||||||
| chr1:120021180 | G | T | 97 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.155+8726C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021180 | |||||||
| chr1:120021196 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8710C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021196 | |||||||
| chr1:120021200 | G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8706C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021200 | |||||||
| chr1:120021484 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8422C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021484 | |||||||
| chr1:120021746 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8160G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021746 | |||||||
| chr1:120021887 | A | G | 2 | a0001c0003t0003g0144 a0001c0003t0003g0146 |
2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.155+8019T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021887 | |||||||
| chr1:120021889 | G | C | 14 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(11): Show |
14 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.155+8017C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021889 | |||||||
| chr1:120022678 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+7228A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120022678 | |||||||
| chr1:120022998 | G | A | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.155+6908C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120022998 | |||||||
| chr1:120023208 | C | T | 2 | a0001c0004t0004g0123 a0001c0004t0004g0124 |
2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.155+6698G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023208 | |||||||
| chr1:120023294 | G | A | 2 | a0001c0010t0004g0120 a0001c0010t0004g0121 |
2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.155+6612C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023294 | |||||||
| chr1:120023309 | C | T | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.155+6597G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023309 | |||||||
| chr1:120023355 | A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6551T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023355 | |||||||
| chr1:120023361 | C | T | 3 | a0001c0005t0001g0140 a0001c0005t0016g0141 a0007c0023t0004g0081 |
3 | HG01884.hp1 HG01891.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.155+6545G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023361 | |||||||
| chr1:120023368 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6538G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023368 | |||||||
| chr1:120023376 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6530T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023376 | |||||||
| chr1:120023415 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023415 | |||||||
| chr1:120023570 | T | G | 98 | a0001c0001t0001g0083 a0001c0001t0013g0125 a0001c0002t0002g0001 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.155+6336A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023570 | |||||||
| chr1:120023596 | T | C | 4 | a0001c0005t0003g0156 a0001c0005t0003g0157 a0001c0005t0003g0158 others(1): Show |
4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.155+6310A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023596 | |||||||
| chr1:120023639 | C | A | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.155+6267G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023639 | |||||||
| chr1:120023755 | T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6151A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023755 | |||||||
| chr1:120023826 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6080T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023826 | |||||||
| chr1:120023927 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+5979G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023927 | |||||||
| chr1:120023943 | T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+5963A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023943 | |||||||
| chr1:120024042 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+5864C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024042 | |||||||
| chr1:120024535 | T | A | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.155+5371A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024535 | |||||||
| chr1:120024540 | C | T | 2 | a0001c0005t0001g0140 a0001c0005t0016g0141 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.155+5366G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024540 | |||||||
| chr1:120024646 | TATA | T | 17 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(14): Show |
18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.155+5257_155+5259d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024646 | |||||||
| chr1:120024879 | A | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+5027T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024879 | |||||||
| chr1:120024941 | T | C | 1 | a0005c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.155+4965A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024941 | |||||||
| chr1:120024947 | G | A | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+4959C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024947 | |||||||
| chr1:120024969 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4937T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024969 | |||||||
| chr1:120025004 | GT | G | 7 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG00738.hp1 HG01081.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.155+4901delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025004 | |||||||
| chr1:120025178 | G | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+4728C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025178 | |||||||
| chr1:120025290 | A | G | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.155+4616T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025290 | |||||||
| chr1:120025381 | A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4525T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025381 | |||||||
| chr1:120025421 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4485T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025421 | |||||||
| chr1:120025423 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4483G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025423 | |||||||
| chr1:120025428 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+4478G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025428 | |||||||
| chr1:120025601 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155+4305C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025601 | |||||||
| chr1:120025654 | C | T | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.155+4252G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025654 | |||||||
| chr1:120025987 | A | G | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.155+3919T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025987 | |||||||
| chr1:120026331 | T | C | 1 | a0001c0003t0003g0147 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.155+3575A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026331 | |||||||
| chr1:120026344 | T | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+3562A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026344 | |||||||
| chr1:120026513 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+3393A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026513 | |||||||
| chr1:120026950 | C | CT | 6 | a0001c0001t0019g0167 a0001c0004t0005g0116 a0001c0005t0003g0143 others(3): Show |
6 | HG00408.hp1 HG02145.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.155+2955dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026950 | |||||||
| chr1:120026950 | C | CTT | 16 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(13): Show |
16 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.155+2954_155+2955d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026950 | |||||||
| chr1:120027017 | T | C | 2 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.155+2889A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027017 | |||||||
| chr1:120027023 | C | T | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.155+2883G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027023 | |||||||
| chr1:120027024 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2882A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027024 | |||||||
| chr1:120027037 | C | T | 1 | a0001c0002t0002g0047 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155+2869G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027037 | |||||||
| chr1:120027076 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2830G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027076 | |||||||
| chr1:120027118 | AT | A | 3 | a0001c0001t0001g0107 a0001c0013t0001g0108 a0001c0025t0010g0004 |
3 | HG00408.hp2 HG02258.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.155+2787delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027118 | |||||||
| chr1:120027123 | T | C | 4 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.155+2783A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027123 | |||||||
| chr1:120027140 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2766C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027140 | |||||||
| chr1:120027147 | T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2759A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027147 | |||||||
| chr1:120027228 | T | C | 3 | a0001c0007t0004g0129 a0001c0007t0004g0131 a0011c0024t0004g0128 |
3 | HG02572.hp1 HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.155+2678A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027228 | |||||||
| chr1:120027468 | T | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.155+2438A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027468 | |||||||
| chr1:120027544 | G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+2362C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027544 | |||||||
| chr1:120027756 | T | C | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.155+2150A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027756 | |||||||
| chr1:120027757 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2149C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027757 | |||||||
| chr1:120027782 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2124G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027782 | |||||||
| chr1:120027825 | T | C | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.155+2081A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027825 | |||||||
| chr1:120027831 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2075C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027831 | |||||||
| chr1:120027839 | A | G | 50 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(47): Show |
51 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(48): Show |
intron_variant | MODIFIER | c.155+2067T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027839 | |||||||
| chr1:120027874 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2032G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027874 | |||||||
| chr1:120027887 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.155+2019A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027887 | |||||||
| chr1:120028325 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1581T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028325 | |||||||
| chr1:120028441 | G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1465C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028441 | |||||||
| chr1:120028617 | A | G | 5 | a0001c0002t0002g0001 a0001c0002t0002g0019 a0001c0002t0002g0020 others(2): Show |
6 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.155+1289T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028617 | |||||||
| chr1:120028762 | C | T | 18 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(15): Show |
19 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(16): Show |
intron_variant | MODIFIER | c.155+1144G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028762 | |||||||
| chr1:120028774 | C | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+1132G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028774 | |||||||
| chr1:120028893 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1013T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028893 | |||||||
| chr1:120028938 | G | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+968C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028938 | |||||||
| chr1:120028959 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+947T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028959 | |||||||
| chr1:120029041 | C | G | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.155+865G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029041 | |||||||
| chr1:120029247 | G | A | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.155+659C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029247 | |||||||
| chr1:120029351 | T | A | 6 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(3): Show |
6 | HG00408.hp1 HG00609.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.155+555A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029351 | |||||||
| chr1:120029373 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+533A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029373 | |||||||
| chr1:120029417 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+489C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029417 | |||||||
| chr1:120029456 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+450G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029456 | |||||||
| chr1:120029476 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029476 | |||||||
| chr1:120029856 | T | C | 2 | a0001c0004t0005g0115 a0001c0004t0005g0116 |
2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.155+50A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029856 | |||||||
| chr1:120030044 | A | G | 5 | a0001c0002t0002g0021 a0001c0002t0002g0032 a0001c0002t0002g0034 others(2): Show |
5 | NA18950.hp1 NA18975.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.74-57T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030044 | |||||||
| chr1:120030292 | A | C | 2 | a0001c0001t0007g0164 a0001c0001t0007g0166 |
2 | NA18991.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.74-305T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030292 | |||||||
| chr1:120030551 | A | C | 1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.74-564T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030551 | |||||||
| chr1:120031085 | T | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-1098A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031085 | |||||||
| chr1:120031150 | C | T | 3 | a0001c0001t0001g0063 a0001c0001t0001g0100 a0007c0023t0004g0081 |
3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-1163G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031150 | |||||||
| chr1:120031303 | A | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-1316T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031303 | |||||||
| chr1:120031322 | T | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-1335A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031322 | |||||||
| chr1:120031559 | C | G | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-1572G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031559 | |||||||
| chr1:120031581 | C | T | 3 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0002g0011 |
3 | HG02976.hp1 HG03453.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.74-1594G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031581 | |||||||
| chr1:120031743 | C | G | 2 | a0001c0006t0001g0053 a0001c0006t0001g0054 |
2 | HG00738.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.74-1756G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031743 | |||||||
| chr1:120031820 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-1833A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031820 | |||||||
| chr1:120031962 | C | A | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.74-1975G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031962 | |||||||
| chr1:120032232 | C | T | 47 | a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0014 others(44): Show |
48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.74-2245G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032232 | |||||||
| chr1:120032248 | G | A | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.74-2261C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032248 | |||||||
| chr1:120032272 | G | A | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.74-2285C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032272 | |||||||
| chr1:120032383 | C | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.74-2396G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032383 | |||||||
| chr1:120032444 | A | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-2457T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032444 | |||||||
| chr1:120032445 | T | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.74-2458A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032445 | |||||||
| chr1:120032620 | C | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-2633G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032620 | |||||||
| chr1:120032690 | C | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-2703G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032690 | |||||||
| chr1:120032747 | C | T | 3 | a0001c0001t0001g0063 a0001c0001t0001g0100 a0007c0023t0004g0081 |
3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-2760G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032747 | |||||||
| chr1:120032806 | C | T | 5 | a0001c0002t0002g0013 a0001c0007t0004g0129 a0001c0007t0004g0130 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-2819G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032806 | |||||||
| chr1:120032950 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.74-2963G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032950 | |||||||
| chr1:120032993 | A | G | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-3006T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032993 | |||||||
| chr1:120033161 | C | T | 1 | a0001c0002t0002g0030 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.74-3174G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033161 | |||||||
| chr1:120033196 | T | C | 160 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.74-3209A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033196 | |||||||
| chr1:120033410 | C | CA | 14 | a0001c0001t0001g0057 a0001c0001t0001g0099 a0001c0001t0007g0166 others(11): Show |
14 | HG01433.hp1 HG01891.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-3424dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAA | 7 | a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0100 others(4): Show |
7 | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.74-3425_74-3424dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAAAA | 8 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0152 others(5): Show |
8 | HG02145.hp2 HG02698.hp1 HG03704.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-3427_74-3424dup others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAAAAA | 17 | a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0015 others(14): Show |
18 | HG00735.hp1 HG01978.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.74-3428_74-3424dup others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAAAAAA | 27 | a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0016 others(24): Show |
27 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.74-3429_74-3424dup others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAAAAAAA | 7 | a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0002g0034 others(4): Show |
7 | HG01081.hp2 HG01361.hp1 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-3430_74-3424dup others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | C | CAAAAAAA others(3): Show |
2 | a0001c0002t0002g0028 a0001c0002t0002g0029 |
2 | HG01884.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.74-3433_74-3424dup others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | CA | C | 46 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(43): Show |
46 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(43): Show |
intron_variant | MODIFIER | c.74-3424delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | CAAA | C | 5 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-3426_74-3424del others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033410 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0056 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.74-3436_74-3424del others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | |||||||
| chr1:120033777 | TAA | T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-3792_74-3791del others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033777 | |||||||
| chr1:120033829 | A | C | 1 | a0001c0002t0002g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.74-3842T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033829 | |||||||
| chr1:120033878 | T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-3891A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033878 | |||||||
| chr1:120033895 | T | C | 1 | a0001c0010t0004g0120 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.74-3908A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033895 | |||||||
| chr1:120034071 | A | G | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.74-4084T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034071 | |||||||
| chr1:120034264 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4277A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034264 | |||||||
| chr1:120034335 | C | CA | 31 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(28): Show |
31 | HG01243.hp2 HG01891.hp2 HG02071.hp1 others(28): Show |
intron_variant | MODIFIER | c.74-4349dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | |||||||
| chr1:120034335 | C | CAAAAAAA others(3): Show |
1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4358_74-4349dup others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | |||||||
| chr1:120034335 | CA | C | 64 | a0001c0001t0001g0084 a0001c0002t0002g0001 a0001c0002t0002g0011 others(61): Show |
65 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.74-4349delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | |||||||
| chr1:120034403 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4416G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034403 | |||||||
| chr1:120034447 | A | T | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-4460T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034447 | |||||||
| chr1:120034660 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-4673A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034660 | |||||||
| chr1:120034689 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4702T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034689 | |||||||
| chr1:120034897 | A | G | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-4910T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034897 | |||||||
| chr1:120035033 | A | G | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-5046T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035033 | |||||||
| chr1:120035373 | T | G | 7 | a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0153 others(4): Show |
7 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-5386A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035373 | |||||||
| chr1:120035385 | G | C | 6 | a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0005t0003g0156 others(3): Show |
6 | HG01433.hp2 HG02055.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.74-5398C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035385 | |||||||
| chr1:120035455 | T | G | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-5468A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035455 | |||||||
| chr1:120035491 | A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5504T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035491 | |||||||
| chr1:120035493 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-5506A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035493 | |||||||
| chr1:120035737 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5750A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035737 | |||||||
| chr1:120035768 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5781C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035768 | |||||||
| chr1:120036041 | G | A | 1 | a0001c0008t0002g0024 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.74-6054C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036041 | |||||||
| chr1:120036440 | T | A | 7 | a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0088 others(4): Show |
7 | HG00140.hp1 HG01978.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-6453A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036440 | |||||||
| chr1:120036862 | T | A | 1 | a0001c0002t0002g0040 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.74-6875A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036862 | |||||||
| chr1:120037012 | A | G | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-7025T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037012 | |||||||
| chr1:120037062 | T | G | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.74-7075A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037062 | |||||||
| chr1:120037084 | A | G | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.74-7097T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037084 | |||||||
| chr1:120037175 | CGGAAGGT others(69): Show |
C | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-7264_74-7189del others(76): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037175 | |||||||
| chr1:120037252 | T | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-7265A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037252 | |||||||
| chr1:120037261 | T | C | 12 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(9): Show |
12 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.74-7274A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037261 | |||||||
| chr1:120037552 | GA | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-7566delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037552 | |||||||
| chr1:120037622 | C | T | 7 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0085 others(4): Show |
7 | HG01433.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-7635G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037622 | |||||||
| chr1:120037938 | T | C | 5 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 others(2): Show |
5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-7951A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037938 | |||||||
| chr1:120037951 | C | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-7964G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037951 | |||||||
| chr1:120038659 | CT | C | 2 | a0001c0004t0004g0127 a0001c0021t0004g0122 |
2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.74-8673delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038659 | |||||||
| chr1:120038662 | A | T | 97 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.74-8675T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038662 | |||||||
| chr1:120038708 | C | T | 1 | a0001c0007t0004g0130 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.74-8721G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038708 | |||||||
| chr1:120038760 | T | C | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.74-8773A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038760 | |||||||
| chr1:120038893 | C | T | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.74-8906G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038893 | |||||||
| chr1:120038915 | G | C | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.74-8928C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038915 | |||||||
| chr1:120039047 | T | TC | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-9061dupG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039047 | |||||||
| chr1:120039409 | C | CT | 19 | a0001c0001t0001g0106 a0001c0001t0007g0164 a0001c0001t0013g0125 others(16): Show |
19 | HG01361.hp1 HG01891.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.74-9423dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039409 | |||||||
| chr1:120039678 | G | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-9691C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039678 | |||||||
| chr1:120039728 | T | C | 1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.74-9741A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039728 | |||||||
| chr1:120039826 | C | T | 1 | a0001c0002t0006g0007 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.74-9839G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039826 | |||||||
| chr1:120040141 | T | C | 23 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(20): Show |
23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-10154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040141 | |||||||
| chr1:120040243 | G | C | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.74-10256C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040243 | |||||||
| chr1:120040266 | T | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-10279A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040266 | |||||||
| chr1:120040756 | G | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-10769C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040756 | |||||||
| chr1:120040794 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-10807A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040794 | |||||||
| chr1:120040829 | A | C | 8 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0005g0115 others(5): Show |
8 | HG02257.hp2 HG02258.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-10842T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040829 | |||||||
| chr1:120040879 | T | C | 1 | a0001c0002t0002g0049 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.74-10892A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040879 | |||||||
| chr1:120040973 | G | A | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.74-10986C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040973 | |||||||
| chr1:120041041 | C | CA | 14 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(11): Show |
14 | HG00140.hp2 HG00735.hp2 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-11055dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041041 | |||||||
| chr1:120041055 | A | AATATATA others(23): Show |
1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(32): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041055 | A | AATATATA others(25): Show |
4 | a0001c0003t0003g0145 a0001c0003t0003g0153 a0001c0003t0003g0154 others(1): Show |
4 | HG04184.hp2 NA18983.hp1 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-11069_74-11068i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041055 | A | AATATATA others(27): Show |
3 | a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 |
3 | HG02071.hp2 HG03831.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.74-11069_74-11068i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041055 | A | AATATATA others(31): Show |
1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(40): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041055 | A | AATATATA others(33): Show |
1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.74-11069_74-11068i others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041055 | A | AATATATA others(37): Show |
1 | a0001c0003t0003g0144 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(46): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | |||||||
| chr1:120041057 | A | AATATATA others(25): Show |
1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | |||||||
| chr1:120041057 | A | AATATATA others(27): Show |
1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | |||||||
| chr1:120041057 | A | ATATATAT others(6): Show |
1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | |||||||
| chr1:120041057 | A | ATATATAT others(20): Show |
1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(29): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | |||||||
| chr1:120041057 | A | T | 14 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(11): Show |
14 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-11070T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | |||||||
| chr1:120041059 | A | AATATATA others(13): Show |
1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.74-11073_74-11072i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | |||||||
| chr1:120041059 | A | AATATATA others(17): Show |
1 | a0001c0005t0003g0156 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.74-11073_74-11072i others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | |||||||
| chr1:120041059 | A | AATATATA others(29): Show |
1 | a0001c0005t0003g0158 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.74-11073_74-11072i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | |||||||
| chr1:120041059 | A | C | 1 | a0001c0003t0003g0147 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.74-11072T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | |||||||
| chr1:120041059 | A | T | 17 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(14): Show |
17 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.74-11072T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | |||||||
| chr1:120041061 | A | AATATATA others(19): Show |
1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-11075_74-11074i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041061 | |||||||
| chr1:120041061 | A | T | 21 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(18): Show |
21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-11074T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041061 | |||||||
| chr1:120041062 | A | ATATATAT others(25): Show |
1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.74-11076_74-11075i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041062 | |||||||
| chr1:120041063 | A | AATATATA others(11): Show |
4 | a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 others(1): Show |
4 | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.74-11077_74-11076i others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | |||||||
| chr1:120041063 | A | AATATATA others(13): Show |
1 | a0010c0014t0002g0027 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.74-11077_74-11076i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | |||||||
| chr1:120041063 | A | T | 23 | a0001c0002t0015g0051 a0001c0003t0003g0144 a0001c0003t0003g0145 others(20): Show |
23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-11076T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | |||||||
| chr1:120041065 | A | AATATATA others(13): Show |
1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.74-11079_74-11078i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | |||||||
| chr1:120041065 | A | ATATATAT others(12): Show |
1 | a0001c0002t0006g0009 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.74-11079_74-11078i others(21): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | |||||||
| chr1:120041065 | A | ATATATAT others(14): Show |
2 | a0001c0002t0006g0007 a0001c0002t0006g0008 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.74-11079_74-11078i others(23): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | |||||||
| chr1:120041065 | A | ATATATAT others(20): Show |
1 | a0001c0002t0002g0026 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.74-11079_74-11078i others(29): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | |||||||
| chr1:120041065 | A | T | 30 | a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 others(27): Show |
30 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(27): Show |
intron_variant | MODIFIER | c.74-11078T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | |||||||
| chr1:120041067 | A | ATAT | 3 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 |
3 | HG02257.hp2 HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.74-11081_74-11080i others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | |||||||
| chr1:120041067 | A | ATATAT | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-11081_74-11080i others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | |||||||
| chr1:120041067 | A | C | 2 | a0001c0003t0003g0153 a0001c0003t0003g0154 |
2 | NA18983.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.74-11080T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | |||||||
| chr1:120041067 | A | T | 35 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(32): Show |
35 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(32): Show |
intron_variant | MODIFIER | c.74-11080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | |||||||
| chr1:120041069 | A | AATATATA others(7): Show |
2 | a0001c0007t0004g0129 a0011c0024t0004g0128 |
2 | HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | AATATATA others(19): Show |
2 | a0001c0002t0002g0047 a0001c0002t0002g0049 |
2 | HG00280.hp1 HG00323.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | AATATATA others(21): Show |
1 | a0001c0002t0002g0001 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | AATATATA others(23): Show |
1 | a0001c0002t0002g0046 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(32): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | AATATATA others(27): Show |
2 | a0001c0002t0002g0020 a0003c0009t0002g0033 |
2 | HG02698.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | AT | 2 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | ATAT | 3 | a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0018g0135 |
3 | HG02809.hp1 HG02895.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | ATATATAT others(14): Show |
1 | a0001c0008t0002g0024 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.74-11083_74-11082i others(23): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | ATATATAT others(24): Show |
1 | a0001c0002t0002g0034 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(33): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | ATATATAT others(44): Show |
1 | a0003c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(53): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041069 | A | T | 47 | a0001c0001t0001g0101 a0001c0002t0002g0017 a0001c0002t0002g0026 others(44): Show |
47 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(44): Show |
intron_variant | MODIFIER | c.74-11082T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | |||||||
| chr1:120041071 | A | AAAAATAT others(6): Show |
1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAAATAT others(10): Show |
1 | a0001c0021t0004g0122 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(19): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAAATAT others(18): Show |
1 | a0001c0002t0002g0036 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAATATA others(5): Show |
3 | a0001c0004t0004g0126 a0001c0007t0017g0132 a0001c0010t0004g0120 |
3 | HG02145.hp1 HG02818.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAATATA others(7): Show |
1 | a0001c0007t0004g0130 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAATATA others(11): Show |
1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAAATATA others(15): Show |
1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(6): Show |
3 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 |
3 | HG02622.hp2 HG02647.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(16): Show |
3 | a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 |
3 | HG02559.hp1 HG02717.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(18): Show |
1 | a0001c0002t0002g0039 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(24): Show |
2 | a0001c0002t0002g0013 a0001c0008t0002g0023 |
2 | HG02280.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(33): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(26): Show |
1 | a0001c0002t0002g0021 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(35): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(28): Show |
2 | a0001c0002t0002g0011 a0001c0002t0002g0043 |
2 | HG03927.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(37): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(30): Show |
1 | a0004c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(39): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AAATATAT others(32): Show |
1 | a0001c0002t0002g0042 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(41): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AATATATA others(5): Show |
1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.74-11096_74-11085d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AATATATA others(19): Show |
1 | a0001c0002t0002g0035 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AATATATA others(21): Show |
1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AATATATA others(29): Show |
1 | a0001c0002t0002g0025 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | AT | 2 | a0001c0001t0001g0091 a0001c0006t0001g0052 |
2 | HG01361.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | ATATATAT others(4): Show |
1 | a0001c0002t0014g0138 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | ATATATAT others(22): Show |
1 | a0001c0008t0002g0022 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(31): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | ATATATAT others(26): Show |
3 | a0001c0002t0002g0018 a0001c0002t0002g0032 a0001c0002t0002g0040 |
3 | HG00735.hp1 NA19011.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(35): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | ATATATAT others(30): Show |
1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(39): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | ATATATAT others(34): Show |
1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(43): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | C | 2 | a0001c0003t0003g0148 a0001c0003t0003g0149 |
2 | HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.74-11084T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041071 | A | T | 73 | a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0101 others(70): Show |
74 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.74-11084T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | |||||||
| chr1:120041073 | T | A | 4 | a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 others(1): Show |
4 | HG00408.hp1 HG00609.hp1 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-11086A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041073 | |||||||
| chr1:120041073 | T | C | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.74-11086A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041073 | |||||||
| chr1:120041077 | T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-11090A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041077 | |||||||
| chr1:120041079 | T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-11092A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041079 | |||||||
| chr1:120041082 | A | ATATATAT others(33): Show |
1 | a0001c0003t0003g0148 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.74-11096_74-11095i others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041082 | |||||||
| chr1:120041082 | A | ATATATAT others(29): Show |
1 | a0001c0003t0003g0149 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.74-11096_74-11095i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041082 | |||||||
| chr1:120041133 | T | C | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-11146A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041133 | |||||||
| chr1:120041151 | G | A | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.74-11164C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041151 | |||||||
| chr1:120041360 | T | G | 1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-11373A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041360 | |||||||
| chr1:120041444 | C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-11457G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041444 | |||||||
| chr1:120041773 | G | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-11786C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041773 | |||||||
| chr1:120041838 | A | AAGAGAG | 70 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(67): Show |
71 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.74-11857_74-11852d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041838 | |||||||
| chr1:120041955 | AGAAAG | A | 2 | a0001c0001t0001g0084 a0001c0002t0006g0010 |
2 | HG02630.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.74-11973_74-11969d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041955 | |||||||
| chr1:120041987 | GA | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-12001delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041987 | |||||||
| chr1:120042206 | T | A | 1 | a0001c0001t0001g0090 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.74-12219A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042206 | |||||||
| chr1:120042210 | A | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-12223T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042210 | |||||||
| chr1:120042412 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-12425A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042412 | |||||||
| chr1:120042449 | G | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-12462C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042449 | |||||||
| chr1:120042536 | G | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.74-12549C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042536 | |||||||
| chr1:120042617 | T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-12630A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042617 | |||||||
| chr1:120042638 | G | A | 106 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 others(103): Show |
107 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.74-12651C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042638 | |||||||
| chr1:120043200 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-13213A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043200 | |||||||
| chr1:120043217 | G | C | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-13230C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043217 | |||||||
| chr1:120043445 | G | A | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.74-13458C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043445 | |||||||
| chr1:120043568 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-13581T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043568 | |||||||
| chr1:120043625 | C | T | 23 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(20): Show |
23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-13638G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043625 | |||||||
| chr1:120043768 | T | C | 1 | a0005c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.74-13781A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043768 | |||||||
| chr1:120043863 | GA | G | 50 | a0001c0001t0013g0125 a0001c0003t0003g0144 a0001c0003t0003g0145 others(47): Show |
50 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(47): Show |
intron_variant | MODIFIER | c.74-13877delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043863 | |||||||
| chr1:120043937 | C | T | 1 | a0004c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.74-13950G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043937 | |||||||
| chr1:120043939 | T | C | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.74-13952A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043939 | |||||||
| chr1:120044083 | T | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-14096A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044083 | |||||||
| chr1:120044179 | A | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-14192T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044179 | |||||||
| chr1:120044311 | G | C | 21 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(18): Show |
21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-14324C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044311 | |||||||
| chr1:120044354 | T | G | 1 | a0001c0001t0001g0136 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.74-14367A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044354 | |||||||
| chr1:120044364 | C | T | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-14377G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044364 | |||||||
| chr1:120044368 | C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.74-14381G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044368 | |||||||
| chr1:120044491 | G | C | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.74-14504C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044491 | |||||||
| chr1:120045359 | C | T | 5 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(2): Show |
5 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.74-15372G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045359 | |||||||
| chr1:120045409 | G | A | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-15422C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045409 | |||||||
| chr1:120045470 | TA | T | 92 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 others(89): Show |
93 | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.74-15484delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045470 | |||||||
| chr1:120045470 | TAA | T | 14 | a0001c0002t0002g0049 a0001c0004t0004g0113 a0001c0004t0004g0114 others(11): Show |
14 | HG00323.hp2 HG02109.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-15485_74-15484d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045470 | |||||||
| chr1:120045488 | A | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-15501T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045488 | |||||||
| chr1:120045840 | C | A | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-15853G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045840 | |||||||
| chr1:120045894 | T | C | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.74-15907A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045894 | |||||||
| chr1:120045983 | A | G | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.74-15996T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045983 | |||||||
| chr1:120046035 | T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-16048A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046035 | |||||||
| chr1:120046079 | G | T | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.74-16092C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046079 | |||||||
| chr1:120046139 | T | C | 21 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(18): Show |
21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-16152A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046139 | |||||||
| chr1:120046910 | C | T | 2 | a0001c0005t0003g0139 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.74-16923G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046910 | |||||||
| chr1:120047042 | T | C | 20 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(17): Show |
20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.74-17055A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047042 | |||||||
| chr1:120047046 | C | T | 1 | a0003c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.74-17059G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047046 | |||||||
| chr1:120047577 | G | A | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.74-17590C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047577 | |||||||
| chr1:120047639 | G | A | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-17652C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047639 | |||||||
| chr1:120047683 | C | CA | 8 | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 others(5): Show |
8 | HG00408.hp1 HG00609.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-17697dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047683 | |||||||
| chr1:120047765 | G | GT | 60 | a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0013g0125 others(57): Show |
61 | HG00408.hp1 HG01109.hp1 HG01109.hp2 others(58): Show |
intron_variant | MODIFIER | c.74-17779dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047765 | |||||||
| chr1:120047765 | G | GTT | 5 | a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0032 others(2): Show |
5 | HG00735.hp1 HG01361.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-17780_74-17779d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047765 | |||||||
| chr1:120047816 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.74-17829C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047816 | |||||||
| chr1:120047826 | G | A | 7 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(4): Show |
7 | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-17839C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047826 | |||||||
| chr1:120047858 | A | C | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-17871T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047858 | |||||||
| chr1:120047919 | C | T | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-17932G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047919 | |||||||
| chr1:120048013 | G | A | 1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-18026C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048013 | |||||||
| chr1:120048088 | A | G | 7 | a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 others(4): Show |
7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-18101T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048088 | |||||||
| chr1:120048207 | T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-18220A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048207 | |||||||
| chr1:120048305 | T | C | 1 | a0001c0001t0007g0166 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.74-18318A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048305 | |||||||
| chr1:120048328 | G | C | 1 | a0001c0002t0002g0039 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.74-18341C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048328 | |||||||
| chr1:120048378 | G | T | 72 | a0001c0001t0001g0093 a0001c0002t0002g0001 a0001c0002t0002g0011 others(69): Show |
73 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.74-18391C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048378 | |||||||
| chr1:120048387 | A | C | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-18400T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048387 | |||||||
| chr1:120048400 | A | G | 2 | a0001c0001t0001g0093 a0001c0025t0010g0004 |
2 | HG00609.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.74-18413T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048400 | |||||||
| chr1:120048421 | G | T | 72 | a0001c0001t0001g0093 a0001c0002t0002g0001 a0001c0002t0002g0011 others(69): Show |
73 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.74-18434C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048421 | |||||||
| chr1:120048445 | C | CT | 6 | a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0104 others(3): Show |
6 | HG02559.hp2 HG02738.hp1 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.74-18459dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | C | CTTTT | 19 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0147 others(16): Show |
19 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.74-18462_74-18459d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | C | CTTTTTTT others(3): Show |
27 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(24): Show |
27 | HG01884.hp2 HG02055.hp2 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.74-18459_74-18458i others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | C | CTTTTTTT others(4): Show |
19 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0018 others(16): Show |
20 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.74-18459_74-18458i others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | C | CTTTTTTT others(5): Show |
1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-18459_74-18458i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | C | CTTTTTTT others(3): Show |
1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.74-18468_74-18459d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048445 | CT | C | 29 | a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0102 others(26): Show |
29 | HG01891.hp2 HG02145.hp1 HG02258.hp1 others(26): Show |
intron_variant | MODIFIER | c.74-18459delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | |||||||
| chr1:120048452 | T | TTGTTTTT others(6): Show |
1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-18466_74-18465i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048452 | |||||||
| chr1:120048455 | T | G | 3 | a0001c0004t0008g0109 a0001c0004t0008g0110 a0001c0004t0008g0111 |
3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-18468A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048455 | |||||||
| chr1:120048629 | G | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-18642C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048629 | |||||||
| chr1:120048868 | T | A | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.74-18881A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048868 | |||||||
| chr1:120048946 | A | G | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.74-18959T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048946 | |||||||
| chr1:120049133 | C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-19146G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049133 | |||||||
| chr1:120049245 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.74-19258G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049245 | |||||||
| chr1:120049246 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19259C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049246 | |||||||
| chr1:120049291 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19304A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049291 | |||||||
| chr1:120049302 | T | C | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.74-19315A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049302 | |||||||
| chr1:120049411 | G | T | 1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.74-19424C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049411 | |||||||
| chr1:120049644 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19657G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049644 | |||||||
| chr1:120049714 | C | G | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.73+19620G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049714 | |||||||
| chr1:120049771 | A | T | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+19563T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049771 | |||||||
| chr1:120049772 | T | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+19562A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049772 | |||||||
| chr1:120049827 | A | AT | 4 | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(1): Show |
4 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+19506dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049827 | |||||||
| chr1:120049976 | C | G | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73+19358G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049976 | |||||||
| chr1:120050071 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0134 |
2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+19263C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050071 | |||||||
| chr1:120050104 | T | C | 2 | a0001c0001t0001g0089 a0001c0001t0001g0134 |
2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+19230A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050104 | |||||||
| chr1:120050184 | A | G | 1 | a0009c0017t0001g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.73+19150T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050184 | |||||||
| chr1:120050231 | G | A | 3 | a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 |
3 | HG00609.hp2 NA18983.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.73+19103C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050231 | |||||||
| chr1:120050256 | C | G | 1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.73+19078G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050256 | |||||||
| chr1:120050302 | C | T | 1 | a0007c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.73+19032G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050302 | |||||||
| chr1:120050993 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+18341G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050993 | |||||||
| chr1:120051180 | T | C | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.73+18154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051180 | |||||||
| chr1:120051228 | A | AAC | 25 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0064 others(22): Show |
25 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(22): Show |
intron_variant | MODIFIER | c.73+18104_73+18105d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | A | AACAC | 10 | a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0093 others(7): Show |
10 | HG00609.hp1 HG01243.hp2 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.73+18102_73+18105d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | A | AACACAC | 8 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0092 others(5): Show |
8 | HG00738.hp1 HG01081.hp1 HG02273.hp2 others(5): Show |
intron_variant | MODIFIER | c.73+18100_73+18105d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AAC | A | 3 | a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0089 |
3 | HG01433.hp1 HG03710.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+18104_73+18105d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACAC | A | 5 | a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0003t0003g0160 others(2): Show |
5 | HG00323.hp1 HG02145.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+18102_73+18105d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACACAC | A | 7 | a0001c0001t0001g0101 a0001c0003t0003g0147 a0001c0003t0003g0148 others(4): Show |
7 | HG01978.hp2 HG02273.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.73+18100_73+18105d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACACACA others(1): Show |
A | 5 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0005t0003g0156 others(2): Show |
5 | HG02055.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+18098_73+18105d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACACACA others(3): Show |
A | 8 | a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 others(5): Show |
8 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(5): Show |
intron_variant | MODIFIER | c.73+18096_73+18105d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACACACA others(7): Show |
A | 11 | a0001c0001t0013g0125 a0001c0003t0003g0145 a0001c0004t0004g0123 others(8): Show |
11 | HG02145.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.73+18092_73+18105d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051228 | AACACACA others(9): Show |
A | 12 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(9): Show |
12 | HG01891.hp2 HG02109.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.73+18090_73+18105d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | |||||||
| chr1:120051251 | ACACACAC others(17): Show |
A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+18059_73+18082d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051251 | |||||||
| chr1:120051255 | ACACACAC others(13): Show |
A | 1 | a0001c0002t0002g0038 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.73+18059_73+18078d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051255 | |||||||
| chr1:120051257 | A | ACACACAC others(5): Show |
2 | a0001c0003t0003g0144 a0001c0003t0003g0146 |
2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.73+18076_73+18077i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051257 | |||||||
| chr1:120051257 | ACACACAC others(11): Show |
A | 1 | a0001c0002t0002g0014 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.73+18059_73+18076d others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051257 | |||||||
| chr1:120051259 | ACACACAC others(9): Show |
A | 5 | a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0019 others(2): Show |
5 | HG02717.hp2 HG03471.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.73+18059_73+18074d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051259 | |||||||
| chr1:120051261 | ACACACAC others(7): Show |
A | 4 | a0001c0002t0002g0011 a0001c0002t0002g0016 a0001c0002t0014g0138 others(1): Show |
4 | HG02559.hp1 HG02647.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+18059_73+18072d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051261 | |||||||
| chr1:120051263 | ACACACAC others(5): Show |
A | 24 | a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0020 others(21): Show |
25 | HG00323.hp2 HG01109.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.73+18059_73+18070d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051263 | |||||||
| chr1:120051265 | ACACACAC others(3): Show |
A | 8 | a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0035 others(5): Show |
8 | HG00735.hp1 HG01081.hp2 HG01361.hp1 others(5): Show |
intron_variant | MODIFIER | c.73+18059_73+18068d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051265 | |||||||
| chr1:120051267 | ACACACAC others(1): Show |
A | 4 | a0001c0002t0002g0025 a0001c0002t0002g0045 a0001c0002t0002g0047 others(1): Show |
4 | HG00280.hp1 HG00738.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+18059_73+18066d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051267 | |||||||
| chr1:120051273 | A | G | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.73+18061T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051273 | |||||||
| chr1:120051449 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.73+17885C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051449 | |||||||
| chr1:120051526 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17808C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051526 | |||||||
| chr1:120051787 | A | G | 5 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(2): Show |
5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+17547T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051787 | |||||||
| chr1:120051859 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17475A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051859 | |||||||
| chr1:120051946 | G | A | 2 | a0001c0002t0002g0137 a0001c0002t0014g0138 |
2 | HG01109.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.73+17388C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051946 | |||||||
| chr1:120052239 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.73+17095T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052239 | |||||||
| chr1:120052254 | G | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+17080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052254 | |||||||
| chr1:120052274 | C | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17060G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052274 | |||||||
| chr1:120052606 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+16728C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052606 | |||||||
| chr1:120053124 | G | A | 2 | a0001c0012t0001g0076 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.73+16210C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053124 | |||||||
| chr1:120053207 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+16127G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053207 | |||||||
| chr1:120053271 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+16063C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053271 | |||||||
| chr1:120053320 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.73+16014C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053320 | |||||||
| chr1:120053331 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.73+16003G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053331 | |||||||
| chr1:120053352 | T | A | 148 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(145): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.73+15982A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053352 | |||||||
| chr1:120053561 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0100 |
2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.73+15773G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053561 | |||||||
| chr1:120053628 | T | C | 7 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(4): Show |
7 | HG00408.hp1 HG00609.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.73+15706A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053628 | |||||||
| chr1:120053637 | T | C | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.73+15697A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053637 | |||||||
| chr1:120053693 | A | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+15641T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053693 | |||||||
| chr1:120053785 | T | C | 1 | a0001c0002t0002g0040 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.73+15549A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053785 | |||||||
| chr1:120053838 | G | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+15496C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053838 | |||||||
| chr1:120054166 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+15168T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054166 | |||||||
| chr1:120054203 | T | C | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+15131A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054203 | |||||||
| chr1:120054245 | G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.73+15089C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054245 | |||||||
| chr1:120054395 | T | C | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+14939A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054395 | |||||||
| chr1:120054474 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14860C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054474 | |||||||
| chr1:120054492 | TAATA | T | 4 | a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 others(1): Show |
4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+14838_73+14841d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054492 | |||||||
| chr1:120054608 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14726A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054608 | |||||||
| chr1:120054684 | C | T | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.73+14650G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054684 | |||||||
| chr1:120055030 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14304A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055030 | |||||||
| chr1:120055339 | C | A | 1 | a0001c0001t0001g0099 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.73+13995G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055339 | |||||||
| chr1:120055446 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13888C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055446 | |||||||
| chr1:120055835 | T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13499A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055835 | |||||||
| chr1:120055875 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13459C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055875 | |||||||
| chr1:120055918 | G | T | 14 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(11): Show |
14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.73+13416C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055918 | |||||||
| chr1:120056033 | T | G | 2 | a0001c0003t0003g0160 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.73+13301A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056033 | |||||||
| chr1:120056324 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13010C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056324 | |||||||
| chr1:120056501 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12833G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056501 | |||||||
| chr1:120056561 | C | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.73+12773G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056561 | |||||||
| chr1:120056563 | T | C | 43 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(40): Show |
44 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.73+12771A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056563 | |||||||
| chr1:120056813 | G | C | 5 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 others(2): Show |
5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.73+12521C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056813 | |||||||
| chr1:120057062 | T | C | 103 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0101 others(100): Show |
104 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.73+12272A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057062 | |||||||
| chr1:120057160 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12174T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057160 | |||||||
| chr1:120057183 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12151G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057183 | |||||||
| chr1:120057403 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.73+11931A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057403 | |||||||
| chr1:120057419 | T | C | 97 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.73+11915A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057419 | |||||||
| chr1:120057676 | TCTTA | T | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+11654_73+11657d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057676 | |||||||
| chr1:120057720 | C | G | 1 | a0008c0026t0007g0163 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.73+11614G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057720 | |||||||
| chr1:120057740 | C | T | 97 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(94): Show |
98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.73+11594G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057740 | |||||||
| chr1:120058156 | T | C | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11178A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058156 | |||||||
| chr1:120058162 | C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11172G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058162 | |||||||
| chr1:120058241 | C | T | 4 | a0001c0007t0004g0129 a0001c0007t0004g0130 a0001c0007t0004g0131 others(1): Show |
4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+11093G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058241 | |||||||
| chr1:120058278 | C | T | 46 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(43): Show |
47 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.73+11056G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058278 | |||||||
| chr1:120058279 | G | A | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11055C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058279 | |||||||
| chr1:120058296 | G | A | 1 | a0005c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.73+11038C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058296 | |||||||
| chr1:120058430 | G | A | 6 | a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 others(3): Show |
6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.73+10904C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058430 | |||||||
| chr1:120058454 | A | G | 23 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(20): Show |
23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+10880T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058454 | |||||||
| chr1:120058665 | T | C | 37 | a0001c0001t0013g0125 a0001c0002t0002g0137 a0001c0003t0003g0144 others(34): Show |
37 | HG00609.hp2 HG01109.hp1 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.73+10669A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058665 | |||||||
| chr1:120058700 | G | A | 1 | a0001c0001t0001g0134 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.73+10634C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058700 | |||||||
| chr1:120058756 | T | C | 3 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0004c0020t0004g0118 |
3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.73+10578A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058756 | |||||||
| chr1:120058804 | T | C | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+10530A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058804 | |||||||
| chr1:120058820 | G | T | 24 | a0001c0002t0002g0137 a0001c0003t0003g0144 a0001c0003t0003g0145 others(21): Show |
24 | HG00609.hp2 HG01109.hp1 HG01978.hp2 others(21): Show |
intron_variant | MODIFIER | c.73+10514C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058820 | |||||||
| chr1:120058992 | A | G | 23 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(20): Show |
23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+10342T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058992 | |||||||
| chr1:120059165 | TA | T | 6 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0007t0004g0129 others(3): Show |
6 | HG01243.hp2 HG02280.hp1 HG02300.hp1 others(3): Show |
intron_variant | MODIFIER | c.73+10168delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059165 | |||||||
| chr1:120059282 | C | G | 2 | a0001c0001t0001g0059 a0001c0001t0001g0060 |
2 | HG03710.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.73+10052G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059282 | |||||||
| chr1:120059595 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.73+9739G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059595 | |||||||
| chr1:120059759 | T | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+9575A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059759 | |||||||
| chr1:120060089 | C | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.73+9245G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060089 | |||||||
| chr1:120060450 | A | AAT | 12 | a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0119 others(9): Show |
12 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.73+8882_73+8883dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060450 | |||||||
| chr1:120060450 | AAT | A | 17 | a0001c0003t0003g0144 a0001c0003t0003g0146 a0001c0003t0003g0147 others(14): Show |
17 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.73+8882_73+8883del others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060450 | |||||||
| chr1:120060452 | T | A | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8882A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060452 | |||||||
| chr1:120060472 | A | T | 25 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0013g0125 others(22): Show |
25 | HG00738.hp2 HG01433.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.73+8862T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060472 | |||||||
| chr1:120060485 | A | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8849T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060485 | |||||||
| chr1:120060540 | G | C | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.73+8794C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060540 | |||||||
| chr1:120060612 | T | C | 2 | a0001c0005t0003g0143 a0001c0005t0003g0162 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.73+8722A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060612 | |||||||
| chr1:120060761 | T | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8573A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060761 | |||||||
| chr1:120060815 | C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+8519G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060815 | |||||||
| chr1:120060934 | A | C | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.73+8400T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060934 | |||||||
| chr1:120061141 | T | C | 3 | a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 |
3 | HG02257.hp2 HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.73+8193A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061141 | |||||||
| chr1:120061398 | C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.73+7936G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061398 | |||||||
| chr1:120061411 | G | C | 15 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(12): Show |
15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+7923C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061411 | |||||||
| chr1:120061424 | T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+7910A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061424 | |||||||
| chr1:120061589 | A | G | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.73+7745T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061589 | |||||||
| chr1:120061601 | T | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+7733A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061601 | |||||||
| chr1:120061639 | C | T | 1 | a0004c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.73+7695G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061639 | |||||||
| chr1:120061786 | G | A | 1 | a0004c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.73+7548C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061786 | |||||||
| chr1:120062250 | C | T | 2 | a0001c0001t0001g0056 a0001c0005t0003g0156 |
2 | HG02055.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.73+7084G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062250 | |||||||
| chr1:120062325 | G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.73+7009C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062325 | |||||||
| chr1:120062381 | GA | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+6952delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062381 | |||||||
| chr1:120062495 | C | T | 16 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(13): Show |
16 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.73+6839G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062495 | |||||||
| chr1:120062670 | G | T | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.73+6664C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062670 | |||||||
| chr1:120063007 | G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.73+6327C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063007 | |||||||
| chr1:120063062 | C | T | 3 | a0001c0002t0002g0011 a0001c0002t0002g0042 a0001c0002t0002g0043 |
3 | HG03927.hp2 HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.73+6272G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063062 | |||||||
| chr1:120063473 | A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+5861T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063473 | |||||||
| chr1:120063968 | T | C | 2 | a0001c0003t0003g0160 a0001c0025t0010g0004 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.73+5366A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063968 | |||||||
| chr1:120064024 | A | G | 23 | a0001c0001t0013g0125 a0001c0002t0006g0010 a0001c0004t0004g0113 others(20): Show |
23 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+5310T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064024 | |||||||
| chr1:120064396 | A | C | 4 | a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+4938T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064396 | |||||||
| chr1:120064707 | T | C | 71 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(68): Show |
72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.73+4627A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064707 | |||||||
| chr1:120064751 | C | CA | 6 | a0001c0004t0004g0119 a0001c0007t0004g0129 a0001c0007t0004g0130 others(3): Show |
6 | HG02109.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.73+4582dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064751 | |||||||
| chr1:120064751 | CA | C | 69 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(66): Show |
70 | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(67): Show |
intron_variant | MODIFIER | c.73+4582delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064751 | |||||||
| chr1:120064830 | A | G | 2 | a0001c0010t0004g0120 a0001c0010t0004g0121 |
2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.73+4504T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064830 | |||||||
| chr1:120064852 | A | T | 22 | a0001c0001t0013g0125 a0001c0004t0004g0113 a0001c0004t0004g0114 others(19): Show |
22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+4482T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064852 | |||||||
| chr1:120064903 | C | T | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.73+4431G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064903 | |||||||
| chr1:120065183 | A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+4151T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065183 | |||||||
| chr1:120065328 | A | G | 11 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(8): Show |
11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.73+4006T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065328 | |||||||
| chr1:120065398 | C | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3936G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065398 | |||||||
| chr1:120065461 | G | A | 20 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(17): Show |
20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.73+3873C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065461 | |||||||
| chr1:120065498 | A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3836T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065498 | |||||||
| chr1:120065545 | T | C | 3 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0013t0001g0108 |
3 | HG00408.hp2 NA18975.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.73+3789A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065545 | |||||||
| chr1:120065599 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3735C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065599 | |||||||
| chr1:120065709 | C | T | 50 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(47): Show |
51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.73+3625G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065709 | |||||||
| chr1:120065808 | G | A | 22 | a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 others(19): Show |
22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+3526C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065808 | |||||||
| chr1:120065830 | A | G | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+3504T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065830 | |||||||
| chr1:120066058 | G | A | 2 | a0001c0002t0002g0042 a0001c0002t0002g0043 |
2 | HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.73+3276C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066058 | |||||||
| chr1:120066130 | T | C | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+3204A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066130 | |||||||
| chr1:120066220 | T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.73+3114A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066220 | |||||||
| chr1:120066332 | C | T | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+3002G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066332 | |||||||
| chr1:120066439 | G | GT | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+2894dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066439 | |||||||
| chr1:120067097 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2237C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067097 | |||||||
| chr1:120067146 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2188G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067146 | |||||||
| chr1:120067149 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2185G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067149 | |||||||
| chr1:120067188 | T | G | 13 | a0001c0001t0013g0125 a0001c0004t0004g0123 a0001c0004t0004g0124 others(10): Show |
13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.73+2146A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067188 | |||||||
| chr1:120067235 | G | A | 98 | a0001c0001t0013g0125 a0001c0002t0002g0001 a0001c0002t0002g0011 others(95): Show |
99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.73+2099C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067235 | |||||||
| chr1:120067241 | C | CA | 51 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(48): Show |
52 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.73+2092_73+2093ins others(1): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067241 | |||||||
| chr1:120067242 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.73+2092C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067242 | |||||||
| chr1:120067246 | T | C | 48 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(45): Show |
49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+2088A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067246 | |||||||
| chr1:120067389 | C | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+1945G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067389 | |||||||
| chr1:120067870 | G | A | 6 | a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 others(3): Show |
6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.73+1464C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067870 | |||||||
| chr1:120067974 | G | A | 1 | a0001c0001t0001g0134 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.73+1360C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067974 | |||||||
| chr1:120068028 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1306C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068028 | |||||||
| chr1:120068100 | G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1234C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068100 | |||||||
| chr1:120068136 | C | G | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.73+1198G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068136 | |||||||
| chr1:120068264 | T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1070A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068264 | |||||||
| chr1:120068310 | C | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+1024G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068310 | |||||||
| chr1:120068435 | C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.73+899G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068435 | |||||||
| chr1:120068573 | T | C | 1 | a0001c0001t0001g0136 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.73+761A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068573 | |||||||
| chr1:120068640 | C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+694G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068640 | |||||||
| chr1:120068751 | G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+583C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068751 | |||||||
| chr1:120068760 | G | A | 1 | a0003c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.73+574C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068760 | |||||||
| chr1:120068882 | C | A | 69 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(66): Show |
70 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.73+452G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068882 | |||||||
| chr1:120068884 | G | C | 5 | a0001c0002t0015g0051 a0001c0005t0003g0139 a0001c0025t0010g0004 others(2): Show |
5 | HG02258.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+450C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068884 | |||||||
| chr1:120068996 | C | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.73+338G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068996 | |||||||
| chr1:120069101 | A | G | 49 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0013 others(46): Show |
50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+233T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069101 | |||||||
| chr1:120069144 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+190C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069144 | |||||||
| chr1:120069216 | G | A | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+118C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069216 | |||||||
| chr1:120069262 | C | T | 2 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+72G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069262 |