Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 100996763 |
|---|---|
| ensemblid | ENSG00000286019.2 |
| hgncid | 53923 |
| symbol | NOTCH2NLB |
| name | notch 2 N-terminal like B |
| refseq_nuc | NM_001364008.2 |
| refseq_prot | NP_001350937.1 |
| ensembl_nuc | ENST00000593495.4 |
| ensembl_prot | ENSP00000472124.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 148600285 |
| end | 148679746 |
| strand | - |
| ver | v1.2 |
| region | chr1:148600285-148679746 |
| region5000 | chr1:148595285-148684746 |
| regionname0 | NOTCH2NLB_chr1_148600285_148679746 |
| regionname5000 | NOTCH2NLB_chr1_148595285_148684746 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 249 | 28 | 4 | 7 | 11 | 0 | 6 | 9 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002 | 0/0 | 249 | 5 | 1 | 1 | 3 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0003 | 0/0 | 249 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 750 | 21 | 4 | 4 | 8 | 0 | 5 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| c0002 | 0/0 | 750 | 7 | 0 | 3 | 3 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| c0003 | 0/0 | 750 | 4 | 0 | 1 | 3 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| c0004 | 0/0 | 750 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| c0005 | 0/0 | 750 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 7092 | 5 | 0 | 0 | 3 | 0 | 2 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0002 | 0/0 | 7080 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0003 | 0/0 | 7086 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0004 | 0/0 | 7083 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0005 | 0/0 | 7082 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0006 | 0/0 | 7077 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0007 | 0/0 | 7083 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0008 | 0/0 | 7084 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0009 | 0/0 | 7090 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0010 | 0/0 | 7089 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0011 | 0/0 | 7090 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0012 | 0/0 | 7091 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0013 | 0/0 | 7094 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0014 | 0/0 | 7094 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0015 | 0/0 | 7088 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0016 | 0/0 | 7092 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0017 | 0/0 | 7084 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0018 | 0/0 | 7092 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0019 | 0/0 | 7072 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0020 | 0/0 | 7080 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0021 | 0/0 | 7081 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0022 | 0/0 | 7069 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0023 | 0/0 | 7078 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0024 | 0/0 | 7077 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0025 | 0/0 | 7080 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0026 | 0/0 | 7081 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0027 | 0/0 | 7081 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0028 | 0/0 | 7083 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0029 | 0/0 | 7078 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| t0030 | 0/0 | 7077 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 750 | 21 | 4 | 4 | 8 | 0 | 5 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002 | 0/0 | 750 | 7 | 0 | 3 | 3 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0003 | 0/0 | 750 | 4 | 0 | 1 | 3 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0005 | 0/0 | 750 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0003c0004 | 0/0 | 750 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 7841 | 4 | 0 | 0 | 2 | 0 | 2 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0002 | 0/0 | 7829 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0007 | 0/0 | 7832 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0008 | 0/0 | 7833 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0009 | 0/0 | 7839 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0011 | 0/0 | 7839 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0013 | 0/0 | 7843 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0014 | 0/0 | 7843 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0015 | 0/0 | 7837 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0016 | 0/0 | 7841 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0017 | 0/0 | 7833 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0018 | 0/0 | 7841 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0019 | 0/0 | 7821 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0022 | 0/0 | 7818 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0026 | 0/0 | 7830 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0028 | 0/0 | 7832 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0001t0030 | 0/0 | 7826 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0004 | 0/0 | 7832 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0010 | 0/0 | 7838 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0012 | 0/0 | 7840 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0023 | 0/0 | 7827 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0024 | 0/0 | 7826 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0027 | 0/0 | 7830 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0001c0002t0029 | 0/0 | 7827 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0003t0001 | 0/0 | 7841 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0003t0005 | 0/0 | 7831 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0003t0021 | 0/0 | 7830 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0003t0025 | 0/0 | 7829 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0002c0005t0020 | 0/0 | 7829 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0003c0004t0003 | 0/0 | 7835 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| a0003c0004t0006 | 0/0 | 7826 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | copy fasta | chr1 | 148595285 | 148684746 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0002g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0007g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0008g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0009g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0011g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0013g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0014g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0015g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0016g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0017g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0018g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0019g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0022g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0026g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0028g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0001t0030g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0004g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0010g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0012g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0023g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0024g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0027g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0001c0002t0029g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0002c0003t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0002c0003t0005g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0002c0003t0021g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0002c0003t0025g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0002c0005t0020g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0003c0004t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0003c0004t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| a0003c0004t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CHS | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG00597 | hp2 | a0002 | c0003 | t0001 | g0007 | EAS | CHS | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01071 | hp1 | a0001 | c0002 | t0029 | g0035 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01071 | hp2 | a0001 | c0001 | t0015 | g0012 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01106 | hp1 | a0001 | c0001 | t0022 | g0029 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01106 | hp2 | a0001 | c0002 | t0012 | g0006 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01109 | hp1 | a0001 | c0001 | t0011 | g0015 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG01109 | hp2 | a0002 | c0003 | t0021 | g0025 | AMR | PUR | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02040 | hp1 | a0002 | c0003 | t0025 | g0027 | EAS | KHV | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02040 | hp2 | a0001 | c0002 | t0004 | g0001 | EAS | KHV | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02273 | hp1 | a0001 | c0001 | t0013 | g0016 | AMR | PEL | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02273 | hp2 | a0001 | c0002 | t0010 | g0017 | AMR | PEL | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02622 | hp1 | a0001 | c0001 | t0008 | g0019 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02622 | hp2 | a0001 | c0001 | t0016 | g0018 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02647 | hp1 | a0003 | c0004 | t0003 | g0020 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02647 | hp2 | a0001 | c0001 | t0019 | g0026 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03540 | hp1 | a0002 | c0005 | t0020 | g0033 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03540 | hp2 | a0003 | c0004 | t0006 | g0005 | AFR | GWD | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03688 | hp1 | a0001 | c0001 | t0017 | g0024 | SAS | STU | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03688 | hp2 | a0001 | c0001 | t0028 | g0028 | SAS | STU | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03710 | hp1 | a0001 | c0001 | t0018 | g0023 | SAS | PJL | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0010 | SAS | PJL | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03834 | hp1 | a0001 | c0002 | t0024 | g0031 | SAS | BEB | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | BEB | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA18963 | hp2 | a0001 | c0001 | t0026 | g0032 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19011 | hp1 | a0001 | c0002 | t0027 | g0030 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19011 | hp2 | a0001 | c0001 | t0009 | g0011 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19056 | hp1 | a0001 | c0002 | t0023 | g0034 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19088 | hp1 | a0002 | c0003 | t0005 | g0004 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02486 | hp1 | a0001 | c0001 | t0007 | g0021 | AFR | ACB | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| HG02486 | hp2 | a0003 | c0004 | t0003 | g0022 | AFR | ACB | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA18955 | hp1 | a0001 | c0001 | t0014 | g0013 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| NA18955 | hp2 | a0001 | c0001 | t0030 | g0036 | EAS | JPT | NOTCH2NLB_chr1_148595285_148684746 | NOTCH2NLB | chr1 | 148595285 | 148684746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:148607571
|
A | G | 2 | a0002a0003 | 8 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(5): Show |
missense_variant | MODERATE | c.512T>C | p.Ile171Thr | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 4/5 | 794/7830 | 512/750 | 171/249 | chr1 | 148607571 | ||
| chr1:148607701
|
C | T | 1 | a0003 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.382G>A | p.Ala128Thr | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 4/5 | 664/7830 | 382/750 | 128/249 | chr1 | 148607701 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:148615704
|
T | C | 2 | a0001c0002a0002c0005 | 8 | HG01071.hp1 HG01106.hp2 HG02040.hp2 others(5): Show |
synonymous_variant | LOW | c.324A>G | p.Gln108Gln | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/5 | 606/7830 | 324/750 | 108/249 | chr1 | 148615704 | ||
| chr1:148615800
|
T | C | 5 | a0001c0001a0001c0002a0002c0003others(2): Show | 36 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(33): Show |
synonymous_variant | LOW | c.228A>G | p.Gln76Gln | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/5 | 510/7830 | 228/750 | 76/249 | chr1 | 148615800 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:148600378
|
G | A | 1 | a0001c0001t0008 | 1 | HG02622.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6705C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 6705 | chr1 | 148600378 | |||||
| chr1:148601120
|
G | A | 2 | a0001c0001t0007a0001c0001t0019 | 2 | HG02486.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5963C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 5963 | chr1 | 148601120 | |||||
| chr1:148601434
|
T | C | 2 | a0003c0004t0003a0003c0004t0006 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5649A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 5649 | chr1 | 148601434 | |||||
| chr1:148601587
|
C | G | 4 | a0001c0001t0007a0001c0001t0019a0003c0004t0003others(1): Show | 5 | HG02486.hp1 HG02486.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*5496G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 5496 | chr1 | 148601587 | |||||
| chr1:148601669
|
A | C | 2 | a0003c0004t0003a0003c0004t0006 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5414T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 5414 | chr1 | 148601669 | |||||
| chr1:148602209
|
A | G | 7 | a0001c0001t0007a0001c0001t0017a0001c0001t0018others(4): Show | 8 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*4874T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4874 | chr1 | 148602209 | |||||
| chr1:148602255
|
G | A | 1 | a0001c0001t0018 | 1 | HG03710.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4828C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4828 | chr1 | 148602255 | |||||
| chr1:148602259
|
C | CA | 8 | a0001c0001t0007a0001c0001t0019a0001c0002t0010others(5): Show | 8 | HG01071.hp1 HG01106.hp2 HG02040.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*4823dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4823 | chr1 | 148602259 | |||||
| chr1:148602259
|
C | CAA | 3 | a0001c0002t0004a0003c0004t0003a0003c0004t0006 | 4 | HG02040.hp2 HG02486.hp2 HG02647.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*4822_*4823dupTT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4823 | chr1 | 148602259 | |||||
| chr1:148602281
|
G | A | 22 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(19): Show | 27 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*4802C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4802 | chr1 | 148602281 | |||||
| chr1:148602286
|
G | A | 2 | a0001c0002t0024a0001c0002t0027 | 2 | HG03834.hp1 NA19011.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4797C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4797 | chr1 | 148602286 | |||||
| chr1:148602654
|
T | G | 2 | a0001c0001t0016a0001c0001t0030 | 2 | HG02622.hp2 NA18955.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4429A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4429 | chr1 | 148602654 | |||||
| chr1:148602817
|
T | G | 2 | a0001c0001t0016a0001c0001t0030 | 2 | HG02622.hp2 NA18955.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4266A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4266 | chr1 | 148602817 | |||||
| chr1:148602848
|
G | C | 19 | a0001c0001t0007a0001c0001t0008a0001c0001t0016others(16): Show | 20 | HG01071.hp1 HG01106.hp2 HG01109.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*4235C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 4235 | chr1 | 148602848 | |||||
| chr1:148603163
|
G | C | 2 | a0001c0001t0017a0001c0001t0018 | 2 | HG03688.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3920C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 3920 | chr1 | 148603163 | |||||
| chr1:148603294
|
T | C | 1 | a0002c0003t0021 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3789A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 3789 | chr1 | 148603294 | |||||
| chr1:148603513
|
C | A | 1 | a0002c0005t0020 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3570G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 3570 | chr1 | 148603513 | |||||
| chr1:148603810
|
T | G | 5 | a0001c0001t0007a0001c0001t0019a0002c0003t0021others(2): Show | 6 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*3273A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 3273 | chr1 | 148603810 | |||||
| chr1:148604688
|
T | C | 5 | a0001c0001t0007a0001c0001t0019a0002c0003t0021others(2): Show | 6 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2395A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2395 | chr1 | 148604688 | |||||
| chr1:148604948
|
TATACACA others(5): Show |
T | 1 | a0001c0001t0022 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2123_*2134delGTGT others(8): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2123 | chr1 | 148604948 | |||||
| chr1:148604950
|
T | TAC | 4 | a0001c0001t0013a0001c0001t0014a0001c0001t0028others(1): Show | 4 | HG02273.hp1 HG03688.hp2 NA18955.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2131_*2132dupGT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2132 | chr1 | 148604950 | |||||
| chr1:148604950
|
TAC | T | 6 | a0001c0001t0009a0001c0001t0011a0001c0002t0004others(3): Show | 6 | HG01106.hp2 HG01109.hp1 HG02040.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2131_*2132delGT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2131 | chr1 | 148604950 | |||||
| chr1:148604950
|
TACAC | T | 6 | a0001c0001t0015a0001c0001t0030a0001c0002t0010others(3): Show | 6 | HG01071.hp1 HG01071.hp2 HG02273.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2129_*2132delGTGT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2129 | chr1 | 148604950 | |||||
| chr1:148604950
|
TACACACA others(1): Show |
T | 4 | a0001c0001t0008a0001c0001t0017a0003c0004t0003others(1): Show | 5 | HG02486.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2125_*2132delGTGT others(4): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2125 | chr1 | 148604950 | |||||
| chr1:148604950
|
TACACACA others(3): Show |
T | 2 | a0001c0001t0007a0001c0001t0019 | 2 | HG02486.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2123_*2132delGTGT others(6): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2123 | chr1 | 148604950 | |||||
| chr1:148604990
|
C | T | 1 | a0002c0003t0021 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2093G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2093 | chr1 | 148604990 | |||||
| chr1:148605128
|
G | A | 1 | a0002c0003t0021 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1955C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1955 | chr1 | 148605128 | |||||
| chr1:148605134
|
G | A | 1 | a0002c0003t0021 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1949C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1949 | chr1 | 148605134 | |||||
| chr1:148605381
|
C | T | 4 | a0001c0001t0009a0002c0003t0021a0003c0004t0003others(1): Show | 5 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1702G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1702 | chr1 | 148605381 | |||||
| chr1:148605395
|
T | C | 1 | a0001c0001t0015 | 1 | HG01071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1688A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1688 | chr1 | 148605395 | |||||
| chr1:148605396
|
T | C | 12 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(9): Show | 13 | HG01071.hp1 HG01109.hp2 HG02486.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1687A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1687 | chr1 | 148605396 | |||||
| chr1:148605415
|
T | C | 4 | a0001c0001t0009a0002c0003t0021a0003c0004t0003others(1): Show | 5 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1668A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1668 | chr1 | 148605415 | |||||
| chr1:148605557
|
A | G | 5 | a0001c0001t0009a0002c0003t0021a0002c0005t0020others(2): Show | 6 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1526T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 1526 | chr1 | 148605557 | |||||
| chr1:148606514
|
G | T | 2 | a0003c0004t0003a0003c0004t0006 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
3_prime_UTR_variant | MODIFIER | c.*569C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 569 | chr1 | 148606514 | |||||
| chr1:148606561
|
A | T | 3 | a0001c0001t0007a0001c0001t0008a0001c0001t0019 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*522T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 522 | chr1 | 148606561 | |||||
| chr1:148679501
|
G | A | 2 | a0001c0001t0017a0001c0001t0018 | 2 | HG03688.hp1 HG03710.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-37C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | chr1 | 148679501 | ||||||
| chr1:148679520
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-56C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 56 | chr1 | 148679520 | |||||
| chr1:148679522
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-58C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 58 | chr1 | 148679522 | |||||
| chr1:148679523
|
C | T | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-59G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 59 | chr1 | 148679523 | |||||
| chr1:148679524
|
A | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-60T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 60 | chr1 | 148679524 | |||||
| chr1:148679526
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-62C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 62 | chr1 | 148679526 | |||||
| chr1:148679529
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-65C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 65 | chr1 | 148679529 | |||||
| chr1:148679530
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-66C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 66 | chr1 | 148679530 | |||||
| chr1:148679532
|
C | T | 18 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
5_prime_UTR_variant | MODIFIER | c.-68G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 68 | chr1 | 148679532 | |||||
| chr1:148679533
|
A | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-69T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 69 | chr1 | 148679533 | |||||
| chr1:148679536
|
T | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-72A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 72 | chr1 | 148679536 | |||||
| chr1:148679538
|
C | G | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-74G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 74 | chr1 | 148679538 | |||||
| chr1:148679539
|
T | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-75A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 75 | chr1 | 148679539 | |||||
| chr1:148679541
|
G | T | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-77C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 77 | chr1 | 148679541 | |||||
| chr1:148679548
|
T | G | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-84A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 84 | chr1 | 148679548 | |||||
| chr1:148679551
|
T | TCCGCCGC others(2): Show |
15 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | 19 | HG00597.hp2 HG01071.hp2 HG01106.hp2 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-96_-88dupCGGCGGCG others(1): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 88 | chr1 | 148679551 | |||||
| chr1:148679551
|
TCCG | T | 2 | a0001c0001t0002a0002c0003t0005 | 3 | HG00597.hp1 NA19088.hp1 NA19088.hp2 |
5_prime_UTR_variant | MODIFIER | c.-90_-88delCGG | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 88 | chr1 | 148679551 | |||||
| chr1:148679552
|
C | G | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-88G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 88 | chr1 | 148679552 | |||||
| chr1:148679554
|
G | C | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-90C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 90 | chr1 | 148679554 | |||||
| chr1:148679555
|
C | T | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-91G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 91 | chr1 | 148679555 | |||||
| chr1:148679556
|
C | G | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-92G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 92 | chr1 | 148679556 | |||||
| chr1:148679564
|
C | T | 1 | a0001c0002t0004 | 1 | HG02040.hp2 | 5_prime_UTR_variant | MODIFIER | c.-100G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 100 | chr1 | 148679564 | |||||
| chr1:148679670
|
AG | A | 19 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(21): Show |
5_prime_UTR_variant | MODIFIER | c.-207delC | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 207 | chr1 | 148679670 | |||||
| chr1:148679699
|
G | C | 19 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(21): Show |
5_prime_UTR_variant | MODIFIER | c.-235C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 235 | chr1 | 148679699 | |||||
| chr1:148679728
|
A | AGCC | 19 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(21): Show |
5_prime_UTR_variant | MODIFIER | c.-267_-265dupGGC | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 265 | chr1 | 148679728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:148607911
|
T | C | 8 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(5): Show | 8 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.338-166A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148607911 | ||||||
| chr1:148608196
|
A | G | 13 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(10): Show | 13 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.338-451T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608196 | ||||||
| chr1:148608273
|
G | C | 1 | a0001c0001t0028g0028 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.338-528C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608273 | ||||||
| chr1:148608334
|
C | T | 1 | a0001c0001t0022g0029 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.338-589G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608334 | ||||||
| chr1:148608366
|
A | G | 8 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(5): Show | 8 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.338-621T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608366 | ||||||
| chr1:148608386
|
CA | C | 3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.338-642delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608386 | ||||||
| chr1:148608405
|
A | G | 1 | a0001c0001t0017g0024 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.338-660T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608405 | ||||||
| chr1:148608731
|
G | A | 3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.338-986C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608731 | ||||||
| chr1:148608852
|
T | C | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-1107A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148608852 | ||||||
| chr1:148609053
|
A | C | 35 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(32): Show | 35 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.338-1308T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609053 | ||||||
| chr1:148609091
|
A | ATTT | 3 | a0003c0004t0003g0020a0003c0004t0003g0022a0003c0004t0006g0005 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.338-1347_338-1346i others(5): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609091 | ||||||
| chr1:148609094
|
A | T | 4 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(1): Show | 4 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(1): Show |
intron_variant | MODIFIER | c.338-1349T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609094 | ||||||
| chr1:148609134
|
T | C | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-1389A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609134 | ||||||
| chr1:148609342
|
G | A | 3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.338-1597C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609342 | ||||||
| chr1:148609349
|
G | A | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-1604C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609349 | ||||||
| chr1:148609404
|
G | T | 1 | a0001c0001t0015g0012 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.338-1659C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609404 | ||||||
| chr1:148609615
|
C | A | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-1870G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148609615 | ||||||
| chr1:148610007
|
A | G | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-2262T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610007 | ||||||
| chr1:148610105
|
T | C | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-2360A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610105 | ||||||
| chr1:148610308
|
A | G | 7 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.338-2563T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610308 | ||||||
| chr1:148610323
|
G | GAGAA | 12 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0007g0021others(9): Show | 12 | HG01106.hp1 HG01106.hp2 HG02040.hp2 others(9): Show |
intron_variant | MODIFIER | c.338-2582_338-2579d others(6): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610323 | ||||||
| chr1:148610323
|
G | GAGAAAGA others(1): Show |
6 | a0001c0001t0001g0014a0001c0001t0017g0024a0001c0001t0026g0032others(3): Show | 6 | HG02486.hp2 HG02647.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.338-2586_338-2579d others(10): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610323 | ||||||
| chr1:148610323
|
G | GAGAAAGA others(5): Show |
3 | a0001c0001t0030g0036a0002c0003t0021g0025a0002c0003t0025g0027 | 3 | HG01109.hp2 HG02040.hp1 NA18955.hp2 |
intron_variant | MODIFIER | c.338-2590_338-2579d others(14): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610323 | ||||||
| chr1:148610323
|
G | GAGAAAGA others(9): Show |
1 | a0001c0001t0015g0012 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.338-2594_338-2579d others(18): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610323 | ||||||
| chr1:148610323
|
GAGAA | G | 3 | a0001c0001t0002g0003a0001c0001t0013g0016a0001c0001t0014g0013 | 3 | HG02273.hp1 NA18955.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.338-2582_338-2579d others(6): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610323 | ||||||
| chr1:148610375
|
G | A | 1 | a0002c0003t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.338-2630C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610375 | ||||||
| chr1:148610377
|
A | G | 1 | a0002c0003t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.338-2632T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610377 | ||||||
| chr1:148610388
|
A | G | 1 | a0002c0005t0020g0033 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.338-2643T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610388 | ||||||
| chr1:148610389
|
A | G | 1 | a0002c0005t0020g0033 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.338-2644T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610389 | ||||||
| chr1:148610392
|
A | G | 7 | a0001c0002t0004g0001a0002c0003t0005g0004a0002c0003t0021g0025others(4): Show | 7 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.338-2647T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610392 | ||||||
| chr1:148610666
|
C | A | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(2): Show | 5 | HG02486.hp1 HG02622.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.338-2921G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610666 | ||||||
| chr1:148610789
|
G | T | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.338-3044C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610789 | ||||||
| chr1:148610892
|
C | CA | 5 | a0001c0001t0001g0009a0001c0001t0028g0028a0001c0002t0010g0017others(2): Show | 5 | HG01071.hp1 HG02273.hp2 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.338-3148dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148610892
|
C | CAAAAAAA | 4 | a0002c0003t0021g0025a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.338-3154_338-3148d others(9): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148610892
|
C | CAAAAAAA others(1): Show |
3 | a0002c0003t0001g0007a0002c0003t0005g0004a0002c0003t0025g0027 | 3 | HG00597.hp2 HG02040.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.338-3155_338-3148d others(10): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148610892
|
C | CAAAAAAA others(2): Show |
3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.338-3156_338-3148d others(11): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148610892
|
C | CAAAAAAA others(3): Show |
1 | a0001c0001t0018g0023 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.338-3157_338-3148d others(12): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148610892
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0017g0024 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.338-3158_338-3148d others(13): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148610892 | ||||||
| chr1:148611336
|
TA | T | 2 | a0002c0003t0001g0007a0002c0003t0021g0025 | 2 | HG00597.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.338-3592delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611336 | ||||||
| chr1:148611357
|
T | C | 2 | a0002c0003t0001g0007a0002c0003t0021g0025 | 2 | HG00597.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.338-3612A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611357 | ||||||
| chr1:148611428
|
T | TA | 3 | a0001c0002t0024g0031a0001c0002t0027g0030a0002c0005t0020g0033 | 3 | HG03540.hp1 HG03834.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.338-3684_338-3683i others(3): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611428 | ||||||
| chr1:148611429
|
T | A | 3 | a0001c0002t0024g0031a0001c0002t0027g0030a0002c0005t0020g0033 | 3 | HG03540.hp1 HG03834.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.338-3684A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611429 | ||||||
| chr1:148611430
|
T | A | 3 | a0001c0002t0024g0031a0001c0002t0027g0030a0002c0005t0020g0033 | 3 | HG03540.hp1 HG03834.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.338-3685A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611430 | ||||||
| chr1:148611645
|
G | A | 3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.338-3900C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611645 | ||||||
| chr1:148611902
|
T | C | 4 | a0002c0003t0025g0027a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG02040.hp1 HG02486.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.337+3789A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611902 | ||||||
| chr1:148611927
|
C | T | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.337+3764G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611927 | ||||||
| chr1:148611968
|
C | T | 2 | a0002c0003t0001g0007a0002c0003t0021g0025 | 2 | HG00597.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.337+3723G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148611968 | ||||||
| chr1:148612106
|
C | T | 4 | a0002c0003t0025g0027a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG02040.hp1 HG02486.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.337+3585G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148612106 | ||||||
| chr1:148612751
|
A | C | 3 | a0001c0001t0002g0002a0001c0001t0026g0032a0002c0003t0005g0004 | 3 | HG00597.hp1 NA18963.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.337+2940T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148612751 | ||||||
| chr1:148612810
|
G | A | 1 | a0001c0001t0011g0015 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.337+2881C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148612810 | ||||||
| chr1:148612936
|
G | T | 2 | a0002c0003t0001g0007a0002c0003t0021g0025 | 2 | HG00597.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.337+2755C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148612936 | ||||||
| chr1:148613101
|
T | C | 6 | a0002c0003t0001g0007a0002c0003t0021g0025a0002c0003t0025g0027others(3): Show | 6 | HG00597.hp2 HG01109.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.337+2590A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148613101 | ||||||
| chr1:148613300
|
T | C | 9 | a0001c0002t0010g0017a0001c0002t0023g0034a0001c0002t0029g0035others(6): Show | 9 | HG00597.hp2 HG01071.hp1 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.337+2391A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148613300 | ||||||
| chr1:148613865
|
C | T | 2 | a0001c0001t0016g0018a0001c0001t0030g0036 | 2 | HG02622.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.337+1826G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148613865 | ||||||
| chr1:148614112
|
G | C | 2 | a0001c0001t0016g0018a0001c0001t0030g0036 | 2 | HG02622.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.337+1579C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148614112 | ||||||
| chr1:148614852
|
G | A | 9 | a0001c0002t0004g0001a0001c0002t0010g0017a0001c0002t0012g0006others(6): Show | 9 | HG01071.hp1 HG01106.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.337+839C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148614852 | ||||||
| chr1:148614948
|
A | G | 3 | a0003c0004t0003g0020a0003c0004t0003g0022a0003c0004t0006g0005 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.337+743T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148614948 | ||||||
| chr1:148615140
|
A | T | 9 | a0001c0002t0004g0001a0001c0002t0010g0017a0001c0002t0012g0006others(6): Show | 9 | HG01071.hp1 HG01106.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.337+551T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615140 | ||||||
| chr1:148615198
|
G | A | 1 | a0002c0003t0005g0004 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.337+493C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615198 | ||||||
| chr1:148615226
|
C | T | 3 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026 | 3 | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.337+465G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615226 | ||||||
| chr1:148615233
|
CA | C | 3 | a0003c0004t0003g0020a0003c0004t0003g0022a0003c0004t0006g0005 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.337+457delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615233 | ||||||
| chr1:148615430
|
G | A | 2 | a0001c0001t0001g0010a0001c0001t0011g0015 | 2 | HG01109.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.337+261C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615430 | ||||||
| chr1:148615433
|
C | T | 1 | a0003c0004t0003g0020 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.337+258G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615433 | ||||||
| chr1:148615434
|
G | A | 1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.337+257C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | 148615434 | ||||||
| chr1:148616173
|
C | G | 2 | a0002c0003t0001g0007a0002c0003t0021g0025 | 2 | HG00597.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.78-223G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148616173 | ||||||
| chr1:148616179
|
G | T | 7 | a0001c0002t0004g0001a0001c0002t0010g0017a0001c0002t0012g0006others(4): Show | 7 | HG01106.hp2 HG02040.hp2 HG02273.hp2 others(4): Show |
intron_variant | MODIFIER | c.78-229C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148616179 | ||||||
| chr1:148616304
|
G | A | 3 | a0001c0001t0011g0015a0002c0003t0001g0007a0002c0003t0021g0025 | 3 | HG00597.hp2 HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.78-354C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148616304 | ||||||
| chr1:148616354
|
G | T | 1 | a0001c0001t0018g0023 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.78-404C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148616354 | ||||||
| chr1:148617074
|
A | C | 4 | a0001c0002t0004g0001a0001c0002t0012g0006a0002c0003t0001g0007others(1): Show | 4 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.78-1124T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148617074 | ||||||
| chr1:148617284
|
A | G | 13 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(10): Show | 13 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.78-1334T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148617284 | ||||||
| chr1:148618018
|
T | C | 13 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(10): Show | 13 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.78-2068A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618018 | ||||||
| chr1:148618322
|
A | G | 1 | a0003c0004t0003g0020 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.78-2372T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618322 | ||||||
| chr1:148618587
|
T | G | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.78-2637A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618587 | ||||||
| chr1:148618619
|
C | T | 1 | a0001c0002t0004g0001 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.78-2669G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618619 | ||||||
| chr1:148618735
|
C | T | 21 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(18): Show | 21 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(18): Show |
intron_variant | MODIFIER | c.78-2785G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618735 | ||||||
| chr1:148618967
|
C | G | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.78-3017G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148618967 | ||||||
| chr1:148619221
|
G | A | 1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.78-3271C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619221 | ||||||
| chr1:148619227
|
C | T | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.78-3277G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619227 | ||||||
| chr1:148619504
|
C | A | 8 | a0001c0001t0030g0036a0001c0002t0004g0001a0001c0002t0023g0034others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-3554G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619504 | ||||||
| chr1:148619693
|
T | C | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007others(1): Show | 4 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.78-3743A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619693 | ||||||
| chr1:148619702
|
C | T | 8 | a0001c0001t0030g0036a0001c0002t0004g0001a0001c0002t0023g0034others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-3752G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619702 | ||||||
| chr1:148619932
|
T | C | 1 | a0002c0003t0025g0027 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.78-3982A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148619932 | ||||||
| chr1:148620629
|
C | T | 1 | a0001c0002t0012g0006 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.78-4679G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148620629 | ||||||
| chr1:148620922
|
C | T | 1 | a0001c0001t0013g0016 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.78-4972G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148620922 | ||||||
| chr1:148620955
|
T | C | 1 | a0002c0003t0025g0027 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.78-5005A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148620955 | ||||||
| chr1:148621369
|
C | G | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007others(1): Show | 4 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.78-5419G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621369 | ||||||
| chr1:148621468
|
G | GA | 21 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(18): Show | 21 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(18): Show |
intron_variant | MODIFIER | c.78-5519dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621468 | ||||||
| chr1:148621814
|
T | C | 1 | a0002c0003t0025g0027 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.78-5864A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621814 | ||||||
| chr1:148621865
|
C | T | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.78-5915G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621865 | ||||||
| chr1:148621924
|
T | C | 9 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(6): Show | 9 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.78-5974A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621924 | ||||||
| chr1:148621952
|
T | C | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.78-6002A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148621952 | ||||||
| chr1:148622328
|
T | C | 9 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(6): Show | 9 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.78-6378A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148622328 | ||||||
| chr1:148622369
|
C | CA | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007others(1): Show | 4 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.78-6420dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148622369 | ||||||
| chr1:148622369
|
CAA | C | 9 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(6): Show | 9 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.78-6421_78-6420del others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148622369 | ||||||
| chr1:148622827
|
C | CAT | 20 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(17): Show | 20 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.78-6878_78-6877ins others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148622827 | ||||||
| chr1:148622996
|
GAGA | G | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.78-7049_78-7047del others(3): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148622996 | ||||||
| chr1:148623438
|
A | G | 8 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-7488T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623438 | ||||||
| chr1:148623476
|
A | G | 12 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(9): Show | 12 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.78-7526T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623476 | ||||||
| chr1:148623672
|
A | G | 12 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(9): Show | 12 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.78-7722T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623672 | ||||||
| chr1:148623761
|
G | C | 8 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-7811C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623761 | ||||||
| chr1:148623806
|
C | A | 8 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-7856G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623806 | ||||||
| chr1:148623916
|
T | C | 8 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-7966A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623916 | ||||||
| chr1:148623953
|
C | T | 20 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(17): Show | 20 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.78-8003G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623953 | ||||||
| chr1:148623963
|
T | C | 7 | a0001c0001t0030g0036a0001c0002t0004g0001a0001c0002t0023g0034others(4): Show | 7 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.78-8013A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623963 | ||||||
| chr1:148623974
|
T | G | 1 | a0002c0003t0025g0027 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.78-8024A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623974 | ||||||
| chr1:148623978
|
T | C | 12 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(9): Show | 12 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.78-8028A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148623978 | ||||||
| chr1:148624119
|
A | G | 1 | a0001c0001t0013g0016 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.78-8169T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148624119 | ||||||
| chr1:148624258
|
G | A | 1 | a0001c0002t0023g0034 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.78-8308C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148624258 | ||||||
| chr1:148624949
|
T | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.78-8999A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148624949 | ||||||
| chr1:148625072
|
C | T | 2 | a0001c0002t0029g0035a0002c0003t0025g0027 | 2 | HG01071.hp1 HG02040.hp1 |
intron_variant | MODIFIER | c.78-9122G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625072 | ||||||
| chr1:148625090
|
C | T | 7 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(4): Show | 7 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.78-9140G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625090 | ||||||
| chr1:148625339
|
C | CTTTTTT | 5 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.78-9395_78-9390dup others(6): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625339 | ||||||
| chr1:148625396
|
T | C | 11 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(8): Show | 11 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(8): Show |
intron_variant | MODIFIER | c.78-9446A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625396 | ||||||
| chr1:148625487
|
A | G | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-9537T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625487 | ||||||
| chr1:148625621
|
T | C | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-9671A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625621 | ||||||
| chr1:148625672
|
G | A | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-9722C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625672 | ||||||
| chr1:148625907
|
T | G | 6 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.78-9957A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148625907 | ||||||
| chr1:148626202
|
G | A | 5 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(2): Show | 5 | HG01071.hp1 HG02040.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.78-10252C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148626202 | ||||||
| chr1:148626445
|
T | C | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007others(1): Show | 4 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.78-10495A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148626445 | ||||||
| chr1:148626551
|
T | C | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.78-10601A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148626551 | ||||||
| chr1:148627497
|
T | G | 5 | a0001c0001t0013g0016a0001c0002t0010g0017a0001c0002t0012g0006others(2): Show | 5 | HG00597.hp2 HG01106.hp2 HG01109.hp2 others(2): Show |
intron_variant | MODIFIER | c.78-11547A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148627497 | ||||||
| chr1:148627528
|
T | G | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.78-11578A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148627528 | ||||||
| chr1:148627551
|
C | T | 11 | a0001c0001t0001g0008a0001c0001t0014g0013a0001c0001t0016g0018others(8): Show | 11 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.78-11601G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148627551 | ||||||
| chr1:148628121
|
A | G | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.77+11895T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148628121 | ||||||
| chr1:148628130
|
A | G | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+11886T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148628130 | ||||||
| chr1:148628257
|
TA | T | 9 | a0001c0001t0002g0003a0001c0001t0016g0018a0001c0001t0026g0032others(6): Show | 9 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.77+11758delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148628257 | ||||||
| chr1:148628783
|
C | T | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+11233G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148628783 | ||||||
| chr1:148629078
|
G | A | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+10938C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148629078 | ||||||
| chr1:148629230
|
T | G | 1 | a0002c0003t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.77+10786A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148629230 | ||||||
| chr1:148629604
|
A | C | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+10412T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148629604 | ||||||
| chr1:148629746
|
G | A | 7 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0004g0001others(4): Show | 7 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.77+10270C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148629746 | ||||||
| chr1:148630017
|
T | C | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+9999A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630017 | ||||||
| chr1:148630189
|
G | T | 9 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(6): Show | 9 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.77+9827C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630189 | ||||||
| chr1:148630445
|
T | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.77+9571A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630445 | ||||||
| chr1:148630459
|
A | G | 1 | a0001c0002t0029g0035 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.77+9557T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630459 | ||||||
| chr1:148630514
|
T | C | 8 | a0001c0001t0016g0018a0001c0001t0026g0032a0001c0001t0030g0036others(5): Show | 8 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.77+9502A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630514 | ||||||
| chr1:148630825
|
A | C | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.77+9191T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630825 | ||||||
| chr1:148630916
|
T | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+9100A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148630916 | ||||||
| chr1:148631042
|
T | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8974A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631042 | ||||||
| chr1:148631239
|
C | A | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8777G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631239 | ||||||
| chr1:148631245
|
G | C | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.77+8771C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631245 | ||||||
| chr1:148631255
|
G | A | 14 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(11): Show | 14 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(11): Show |
intron_variant | MODIFIER | c.77+8761C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631255 | ||||||
| chr1:148631287
|
C | T | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8729G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631287 | ||||||
| chr1:148631294
|
T | TA | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+8721dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631294 | ||||||
| chr1:148631450
|
A | T | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8566T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631450 | ||||||
| chr1:148631487
|
A | G | 2 | a0001c0001t0009g0011a0001c0002t0027g0030 | 2 | NA19011.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.77+8529T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631487 | ||||||
| chr1:148631564
|
T | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8452A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631564 | ||||||
| chr1:148631612
|
C | T | 1 | a0001c0002t0024g0031 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.77+8404G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631612 | ||||||
| chr1:148631616
|
CAT | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(3): Show | 6 | HG01071.hp1 HG02040.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.77+8398_77+8399del others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148631616 | ||||||
| chr1:148632038
|
T | C | 2 | a0001c0001t0016g0018a0001c0001t0030g0036 | 2 | HG02622.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.77+7978A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148632038 | ||||||
| chr1:148632309
|
G | A | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+7707C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148632309 | ||||||
| chr1:148632331
|
A | C | 2 | a0001c0001t0001g0008a0001c0002t0023g0034 | 2 | NA19056.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.77+7685T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148632331 | ||||||
| chr1:148632653
|
C | A | 15 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(12): Show | 15 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.77+7363G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148632653 | ||||||
| chr1:148633280
|
G | A | 1 | a0001c0001t0026g0032 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.77+6736C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633280 | ||||||
| chr1:148633324
|
C | A | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.77+6692G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633324 | ||||||
| chr1:148633425
|
C | T | 1 | a0001c0001t0026g0032 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.77+6591G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633425 | ||||||
| chr1:148633477
|
C | T | 1 | a0001c0002t0024g0031 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.77+6539G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633477 | ||||||
| chr1:148633552
|
C | CA | 14 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(11): Show | 14 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.77+6463dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633552 | ||||||
| chr1:148633768
|
T | A | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+6248A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633768 | ||||||
| chr1:148633798
|
T | C | 1 | a0001c0001t0002g0003 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.77+6218A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148633798 | ||||||
| chr1:148634122
|
A | G | 1 | a0001c0001t0014g0013 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.77+5894T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148634122 | ||||||
| chr1:148635126
|
G | GT | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+4889dupA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148635126 | ||||||
| chr1:148635499
|
CT | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.77+4516delA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148635499 | ||||||
| chr1:148635551
|
C | T | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+4465G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148635551 | ||||||
| chr1:148635790
|
T | G | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+4226A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148635790 | ||||||
| chr1:148635996
|
G | A | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+4020C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148635996 | ||||||
| chr1:148636173
|
C | A | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3843G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636173 | ||||||
| chr1:148636235
|
G | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3781C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636235 | ||||||
| chr1:148636250
|
G | T | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3766C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636250 | ||||||
| chr1:148636259
|
T | C | 5 | a0001c0002t0010g0017a0001c0002t0012g0006a0001c0002t0029g0035others(2): Show | 5 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.77+3757A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636259 | ||||||
| chr1:148636571
|
CTAAG | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3441_77+3444del others(4): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636571 | ||||||
| chr1:148636704
|
C | T | 20 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(17): Show | 20 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.77+3312G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636704 | ||||||
| chr1:148636767
|
A | G | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3249T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636767 | ||||||
| chr1:148636796
|
T | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3220A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636796 | ||||||
| chr1:148636899
|
A | G | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+3117T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636899 | ||||||
| chr1:148636923
|
A | G | 8 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(5): Show | 8 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.77+3093T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148636923 | ||||||
| chr1:148637067
|
CT | C | 27 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.77+2948delA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637067 | ||||||
| chr1:148637067
|
CTTT | C | 4 | a0001c0002t0004g0001a0001c0002t0024g0031a0002c0003t0025g0027others(1): Show | 4 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.77+2946_77+2948del others(3): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637067 | ||||||
| chr1:148637072
|
T | C | 5 | a0001c0002t0010g0017a0001c0002t0012g0006a0001c0002t0029g0035others(2): Show | 5 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.77+2944A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637072 | ||||||
| chr1:148637154
|
T | C | 10 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0010g0017others(7): Show | 10 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(7): Show |
intron_variant | MODIFIER | c.77+2862A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637154 | ||||||
| chr1:148637164
|
T | G | 20 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(17): Show | 20 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.77+2852A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637164 | ||||||
| chr1:148637193
|
T | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2823A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637193 | ||||||
| chr1:148637193
|
T | G | 2 | a0001c0001t0007g0021a0001c0001t0008g0019 | 2 | HG02486.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.77+2823A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637193 | ||||||
| chr1:148637373
|
G | T | 1 | a0001c0001t0001g0009 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.77+2643C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637373 | ||||||
| chr1:148637571
|
C | A | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2445G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637571 | ||||||
| chr1:148637585
|
A | T | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2431T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637585 | ||||||
| chr1:148637643
|
T | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2373A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637643 | ||||||
| chr1:148637647
|
C | T | 1 | a0001c0002t0029g0035 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.77+2369G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637647 | ||||||
| chr1:148637655
|
A | G | 1 | a0001c0001t0026g0032 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.77+2361T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637655 | ||||||
| chr1:148637764
|
C | T | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2252G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637764 | ||||||
| chr1:148637891
|
T | C | 5 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(2): Show | 5 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.77+2125A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148637891 | ||||||
| chr1:148638075
|
C | T | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1941G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638075 | ||||||
| chr1:148638114
|
G | A | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1902C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638114 | ||||||
| chr1:148638306
|
A | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1710T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638306 | ||||||
| chr1:148638442
|
G | C | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1574C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638442 | ||||||
| chr1:148638534
|
A | T | 1 | a0001c0002t0023g0034 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.77+1482T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638534 | ||||||
| chr1:148638558
|
TG | T | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1457delC | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638558 | ||||||
| chr1:148638641
|
C | T | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1375G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638641 | ||||||
| chr1:148638765
|
A | G | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+1251T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638765 | ||||||
| chr1:148638981
|
A | G | 4 | a0001c0001t0019g0026a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG02486.hp2 HG02647.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.77+1035T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148638981 | ||||||
| chr1:148639041
|
C | A | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+975G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639041 | ||||||
| chr1:148639125
|
GA | G | 6 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0023g0034others(3): Show | 6 | HG02040.hp1 HG02040.hp2 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.77+890delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639125 | ||||||
| chr1:148639403
|
C | T | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.77+613G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639403 | ||||||
| chr1:148639585
|
T | C | 22 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(19): Show | 22 | HG00597.hp2 HG01071.hp1 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.77+431A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639585 | ||||||
| chr1:148639622
|
G | A | 1 | a0001c0001t0002g0003 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.77+394C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639622 | ||||||
| chr1:148639694
|
C | T | 1 | a0001c0002t0023g0034 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.77+322G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 2/4 | chr1 | 148639694 | ||||||
| chr1:148640099
|
C | T | 21 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(18): Show | 21 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(18): Show |
intron_variant | MODIFIER | c.4-10G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148640099 | ||||||
| chr1:148640713
|
G | C | 4 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(1): Show | 4 | HG02040.hp1 HG02040.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-624C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148640713 | ||||||
| chr1:148640743
|
C | A | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-654G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148640743 | ||||||
| chr1:148641056
|
C | A | 1 | a0001c0002t0023g0034 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.4-967G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148641056 | ||||||
| chr1:148641269
|
C | T | 3 | a0001c0002t0004g0001a0001c0002t0023g0034a0002c0003t0025g0027 | 3 | HG02040.hp1 HG02040.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.4-1180G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148641269 | ||||||
| chr1:148641560
|
T | C | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-1471A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148641560 | ||||||
| chr1:148641774
|
C | T | 9 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(6): Show | 9 | HG02040.hp1 HG02040.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4-1685G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148641774 | ||||||
| chr1:148642507
|
T | C | 1 | a0001c0001t0019g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4-2418A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148642507 | ||||||
| chr1:148642884
|
C | A | 1 | a0002c0005t0020g0033 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4-2795G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148642884 | ||||||
| chr1:148643013
|
A | C | 12 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(9): Show | 12 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.4-2924T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643013 | ||||||
| chr1:148643026
|
ACT | A | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-2939_4-2938delAG | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643026 | ||||||
| chr1:148643300
|
C | T | 2 | a0001c0001t0007g0021a0001c0001t0008g0019 | 2 | HG02486.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.4-3211G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643300 | ||||||
| chr1:148643397
|
T | C | 10 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(7): Show | 10 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.4-3308A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643397 | ||||||
| chr1:148643514
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0017g0024 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4-3436_4-3426dupTT others(9): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
C | CAAAAAAA others(8): Show |
1 | a0001c0001t0018g0023 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4-3440_4-3426dupTT others(13): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CA | C | 6 | a0001c0001t0001g0009a0001c0001t0002g0003a0001c0001t0014g0013others(3): Show | 6 | HG01106.hp1 HG03834.hp2 NA18955.hp1 others(3): Show |
intron_variant | MODIFIER | c.4-3426delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CAA | C | 11 | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0002g0002others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.4-3427_4-3426delTT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CAAAAAAA | C | 5 | a0001c0001t0019g0026a0002c0003t0021g0025a0003c0004t0003g0020others(2): Show | 5 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-3432_4-3426delTT others(5): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CAAAAAAA others(3): Show |
C | 2 | a0001c0001t0007g0021a0001c0001t0008g0019 | 2 | HG02486.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.4-3435_4-3426delTT others(8): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0002t0029g0035 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4-3436_4-3426delTT others(9): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643514
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0008 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.4-3439_4-3426delTT others(12): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643514 | ||||||
| chr1:148643614
|
C | G | 8 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(5): Show | 8 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.4-3525G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643614 | ||||||
| chr1:148643740
|
G | A | 2 | a0001c0001t0007g0021a0001c0001t0008g0019 | 2 | HG02486.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.4-3651C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643740 | ||||||
| chr1:148643754
|
C | T | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-3665G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643754 | ||||||
| chr1:148643766
|
T | C | 2 | a0001c0001t0007g0021a0001c0001t0008g0019 | 2 | HG02486.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.4-3677A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643766 | ||||||
| chr1:148643891
|
G | A | 1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4-3802C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643891 | ||||||
| chr1:148643925
|
G | A | 8 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(5): Show | 8 | HG01109.hp2 HG02486.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.4-3836C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643925 | ||||||
| chr1:148643938
|
C | A | 6 | a0001c0001t0019g0026a0001c0002t0023g0034a0002c0003t0021g0025others(3): Show | 6 | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.4-3849G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148643938 | ||||||
| chr1:148644130
|
A | G | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-4041T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148644130 | ||||||
| chr1:148645596
|
C | T | 12 | a0001c0001t0016g0018a0001c0001t0017g0024a0001c0001t0018g0023others(9): Show | 12 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.4-5507G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645596 | ||||||
| chr1:148645641
|
T | C | 16 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(13): Show | 16 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.4-5552A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645641 | ||||||
| chr1:148645763
|
C | T | 2 | a0001c0001t0019g0026a0001c0002t0023g0034 | 2 | HG02647.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.4-5674G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645763 | ||||||
| chr1:148645767
|
CCA | C | 10 | a0001c0001t0016g0018a0001c0001t0030g0036a0001c0002t0010g0017others(7): Show | 10 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(7): Show |
intron_variant | MODIFIER | c.4-5680_4-5679delTG | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645767 | ||||||
| chr1:148645769
|
A | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4-5680T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645769 | ||||||
| chr1:148645869
|
G | A | 1 | a0002c0005t0020g0033 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4-5780C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645869 | ||||||
| chr1:148645915
|
T | C | 12 | a0001c0001t0016g0018a0001c0001t0017g0024a0001c0001t0018g0023others(9): Show | 12 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.4-5826A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148645915 | ||||||
| chr1:148646587
|
G | C | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4-6498C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148646587 | ||||||
| chr1:148646889
|
T | C | 13 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(10): Show | 13 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.4-6800A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148646889 | ||||||
| chr1:148646941
|
C | A | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-6852G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148646941 | ||||||
| chr1:148647343
|
C | A | 2 | a0001c0001t0016g0018a0001c0001t0030g0036 | 2 | HG02622.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.4-7254G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148647343 | ||||||
| chr1:148647684
|
C | T | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0001c0002t0029g0035others(1): Show | 4 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(1): Show |
intron_variant | MODIFIER | c.4-7595G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148647684 | ||||||
| chr1:148647729
|
G | A | 3 | a0001c0002t0004g0001a0001c0002t0023g0034a0002c0003t0025g0027 | 3 | HG02040.hp1 HG02040.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.4-7640C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148647729 | ||||||
| chr1:148647833
|
T | G | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-7744A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148647833 | ||||||
| chr1:148647925
|
C | T | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-7836G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148647925 | ||||||
| chr1:148648109
|
T | C | 13 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(10): Show | 13 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.4-8020A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148648109 | ||||||
| chr1:148648358
|
A | T | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-8269T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148648358 | ||||||
| chr1:148648678
|
C | A | 20 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(17): Show | 20 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.4-8589G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148648678 | ||||||
| chr1:148649511
|
C | CT | 19 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(16): Show | 19 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.4-9423dupA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649511 | ||||||
| chr1:148649511
|
C | CTT | 5 | a0001c0001t0018g0023a0001c0002t0010g0017a0001c0002t0012g0006others(2): Show | 5 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.4-9424_4-9423dupAA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649511 | ||||||
| chr1:148649612
|
G | A | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-9523C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649612 | ||||||
| chr1:148649657
|
C | T | 1 | a0001c0001t0001g0008 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.4-9568G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649657 | ||||||
| chr1:148649659
|
C | T | 7 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(4): Show | 7 | HG02040.hp1 HG02040.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4-9570G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649659 | ||||||
| chr1:148649669
|
A | T | 7 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(4): Show | 7 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4-9580T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649669 | ||||||
| chr1:148649676
|
A | G | 1 | a0001c0001t0001g0014 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.4-9587T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649676 | ||||||
| chr1:148649748
|
A | G | 26 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(23): Show | 26 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(23): Show |
intron_variant | MODIFIER | c.4-9659T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148649748 | ||||||
| chr1:148650548
|
T | G | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4-10459A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148650548 | ||||||
| chr1:148650725
|
G | T | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-10636C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148650725 | ||||||
| chr1:148650944
|
C | G | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-10855G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148650944 | ||||||
| chr1:148650999
|
T | C | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-10910A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148650999 | ||||||
| chr1:148651005
|
T | C | 2 | a0001c0001t0001g0008a0001c0001t0014g0013 | 2 | NA18955.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.4-10916A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651005 | ||||||
| chr1:148651061
|
T | C | 6 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(3): Show | 6 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.4-10972A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651061 | ||||||
| chr1:148651121
|
C | T | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.4-11032G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651121 | ||||||
| chr1:148651144
|
G | GAAAAAAA others(2): Show |
4 | a0001c0001t0001g0008a0001c0001t0011g0015a0001c0001t0014g0013others(1): Show | 4 | HG01109.hp1 HG03710.hp1 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-11064_4-11056dup others(9): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651144 | ||||||
| chr1:148651144
|
G | GAAAAAAA others(3): Show |
4 | a0001c0001t0001g0010a0001c0001t0009g0011a0001c0001t0017g0024others(1): Show | 4 | HG03688.hp1 HG03710.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-11065_4-11056dup others(10): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651144 | ||||||
| chr1:148651158
|
A | T | 3 | a0003c0004t0003g0020a0003c0004t0003g0022a0003c0004t0006g0005 | 3 | HG02486.hp2 HG02647.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.4-11069T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651158 | ||||||
| chr1:148651160
|
A | T | 4 | a0001c0002t0010g0017a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG02273.hp2 HG02486.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-11071T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651160 | ||||||
| chr1:148651162
|
A | AAAAAAAA others(28): Show |
1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4-11074_4-11073ins others(35): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AAAAAAAA others(6): Show |
2 | a0001c0001t0001g0014a0001c0001t0002g0003 | 2 | NA18963.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.4-11074_4-11073ins others(13): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0015g0012 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.4-11074_4-11073ins others(14): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AAAAAAAT others(6): Show |
1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4-11074_4-11073ins others(13): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AAAAAATA others(19): Show |
1 | a0001c0002t0029g0035 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4-11074_4-11073ins others(26): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AAAATATA others(9): Show |
1 | a0002c0003t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4-11074_4-11073ins others(16): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | AATATATA others(17): Show |
1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-11097_4-11074dup others(24): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
A | T | 5 | a0001c0002t0010g0017a0001c0002t0012g0006a0003c0004t0003g0020others(2): Show | 5 | HG01106.hp2 HG02273.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.4-11073T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651162
|
AATAT | A | 4 | a0001c0001t0002g0002a0001c0001t0013g0016a0001c0002t0023g0034others(1): Show | 4 | HG00597.hp1 HG02273.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-11077_4-11074del others(4): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651162 | ||||||
| chr1:148651164
|
T | A | 3 | a0001c0001t0001g0008a0001c0001t0009g0011a0001c0002t0027g0030 | 3 | NA19011.hp1 NA19011.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.4-11075A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651164 | ||||||
| chr1:148651168
|
T | A | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4-11079A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651168 | ||||||
| chr1:148651170
|
T | A | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4-11081A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651170 | ||||||
| chr1:148651172
|
T | A | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4-11083A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651172 | ||||||
| chr1:148651174
|
T | A | 1 | a0001c0001t0002g0002 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4-11085A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651174 | ||||||
| chr1:148651206
|
A | G | 12 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(9): Show | 12 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.4-11117T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651206 | ||||||
| chr1:148651400
|
C | G | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.4-11311G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651400 | ||||||
| chr1:148651454
|
C | T | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.4-11365G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651454 | ||||||
| chr1:148651936
|
A | G | 2 | a0003c0004t0003g0020a0003c0004t0006g0005 | 2 | HG02647.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.4-11847T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148651936 | ||||||
| chr1:148652331
|
T | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4-12242A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148652331 | ||||||
| chr1:148652501
|
G | A | 7 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(4): Show | 7 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4-12412C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148652501 | ||||||
| chr1:148653894
|
T | C | 14 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(11): Show | 14 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(11): Show |
intron_variant | MODIFIER | c.4-13805A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148653894 | ||||||
| chr1:148653957
|
G | GA | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-13869dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148653957 | ||||||
| chr1:148653957
|
GA | G | 9 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(6): Show | 9 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.4-13869delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148653957 | ||||||
| chr1:148654068
|
A | C | 14 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0019g0026others(11): Show | 14 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(11): Show |
intron_variant | MODIFIER | c.4-13979T>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654068 | ||||||
| chr1:148654151
|
C | T | 15 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0018g0023others(12): Show | 15 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(12): Show |
intron_variant | MODIFIER | c.4-14062G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654151 | ||||||
| chr1:148654327
|
A | G | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-14238T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654327 | ||||||
| chr1:148654480
|
C | A | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-14391G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654480 | ||||||
| chr1:148654711
|
CACA | C | 24 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.4-14625_4-14623del others(3): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654711 | ||||||
| chr1:148654769
|
G | A | 24 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.4-14680C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654769 | ||||||
| chr1:148654855
|
A | G | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-14766T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148654855 | ||||||
| chr1:148655222
|
C | T | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4-15133G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655222 | ||||||
| chr1:148655269
|
G | A | 1 | a0001c0001t0002g0003 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.4-15180C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655269 | ||||||
| chr1:148655343
|
G | A | 1 | a0001c0002t0024g0031 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4-15254C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655343 | ||||||
| chr1:148655567
|
T | TA | 24 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0014others(21): Show | 24 | HG00597.hp1 HG01071.hp2 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.4-15479dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655567 | ||||||
| chr1:148655586
|
A | AG | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4-15498_4-15497ins others(1): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655586 | ||||||
| chr1:148655604
|
C | T | 4 | a0001c0001t0026g0032a0001c0002t0004g0001a0001c0002t0024g0031others(1): Show | 4 | HG02040.hp1 HG02040.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-15515G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655604 | ||||||
| chr1:148655793
|
C | A | 1 | a0001c0001t0028g0028 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.4-15704G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655793 | ||||||
| chr1:148655802
|
C | T | 13 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 13 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.4-15713G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655802 | ||||||
| chr1:148655869
|
C | T | 19 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(16): Show | 19 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.4-15780G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655869 | ||||||
| chr1:148655986
|
G | A | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.4-15897C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655986 | ||||||
| chr1:148655991
|
G | T | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.4-15902C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148655991 | ||||||
| chr1:148656656
|
C | T | 9 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(6): Show | 9 | HG01109.hp2 HG02040.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.4-16567G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148656656 | ||||||
| chr1:148656909
|
T | C | 1 | a0001c0001t0017g0024 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4-16820A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148656909 | ||||||
| chr1:148657316
|
G | T | 24 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.4-17227C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148657316 | ||||||
| chr1:148657786
|
C | CA | 9 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(6): Show | 9 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4-17698dupT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148657786 | ||||||
| chr1:148657871
|
G | GT | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.4-17783dupA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148657871 | ||||||
| chr1:148657871
|
G | GTT | 4 | a0001c0001t0001g0014a0001c0001t0008g0019a0001c0001t0016g0018others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.4-17784_4-17783dup others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148657871 | ||||||
| chr1:148658024
|
C | T | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.4-17935G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658024 | ||||||
| chr1:148658027
|
T | C | 4 | a0001c0002t0010g0017a0001c0002t0012g0006a0001c0002t0029g0035others(1): Show | 4 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(1): Show |
intron_variant | MODIFIER | c.4-17938A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658027 | ||||||
| chr1:148658094
|
G | C | 1 | a0001c0001t0017g0024 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4-18005C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658094 | ||||||
| chr1:148658201
|
A | G | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4-18112T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658201 | ||||||
| chr1:148658464
|
C | T | 16 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(13): Show | 16 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.4-18375G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658464 | ||||||
| chr1:148658550
|
C | CT | 5 | a0001c0001t0013g0016a0001c0001t0022g0029a0001c0001t0026g0032others(2): Show | 5 | HG01106.hp1 HG02273.hp1 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.4-18462dupA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658550 | ||||||
| chr1:148658550
|
CTT | C | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.4-18463_4-18462del others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658550 | ||||||
| chr1:148658555
|
T | C | 1 | a0001c0001t0001g0014 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.4-18466A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658555 | ||||||
| chr1:148658556
|
T | C | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.4-18467A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658556 | ||||||
| chr1:148658722
|
C | T | 1 | a0001c0002t0029g0035 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4-18633G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658722 | ||||||
| chr1:148658782
|
C | T | 15 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(12): Show | 15 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.4-18693G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658782 | ||||||
| chr1:148658832
|
C | T | 1 | a0001c0002t0024g0031 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4-18743G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658832 | ||||||
| chr1:148658905
|
C | T | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4-18816G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148658905 | ||||||
| chr1:148659098
|
G | A | 17 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(14): Show | 17 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.4-19009C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148659098 | ||||||
| chr1:148659663
|
T | C | 3 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007 | 3 | HG00597.hp2 HG01106.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.4-19574A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148659663 | ||||||
| chr1:148659883
|
G | A | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+19579C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148659883 | ||||||
| chr1:148660371
|
G | C | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+19091C>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148660371 | ||||||
| chr1:148660443
|
A | T | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+19019T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148660443 | ||||||
| chr1:148660502
|
A | T | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+18960T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148660502 | ||||||
| chr1:148660631
|
C | A | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+18831G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148660631 | ||||||
| chr1:148661032
|
A | T | 3 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007 | 3 | HG00597.hp2 HG01106.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.3+18430T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148661032 | ||||||
| chr1:148661035
|
T | C | 11 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(8): Show | 11 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+18427A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148661035 | ||||||
| chr1:148661502
|
G | T | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+17960C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148661502 | ||||||
| chr1:148661675
|
A | G | 12 | a0001c0001t0016g0018a0001c0001t0019g0026a0001c0001t0026g0032others(9): Show | 12 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(9): Show |
intron_variant | MODIFIER | c.3+17787T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148661675 | ||||||
| chr1:148662428
|
C | T | 22 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0016g0018others(19): Show | 22 | HG00597.hp2 HG01071.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.3+17034G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148662428 | ||||||
| chr1:148662607
|
C | G | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+16855G>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148662607 | ||||||
| chr1:148662780
|
G | A | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+16682C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148662780 | ||||||
| chr1:148663422
|
G | A | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+16040C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148663422 | ||||||
| chr1:148663498
|
A | T | 1 | a0001c0001t0001g0010 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3+15964T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148663498 | ||||||
| chr1:148664324
|
C | T | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+15138G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148664324 | ||||||
| chr1:148664461
|
C | A | 10 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0002t0004g0001others(7): Show | 10 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3+15001G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148664461 | ||||||
| chr1:148664629
|
T | C | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.3+14833A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148664629 | ||||||
| chr1:148664782
|
A | G | 3 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007 | 3 | HG00597.hp2 HG01106.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.3+14680T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148664782 | ||||||
| chr1:148665248
|
C | A | 4 | a0001c0001t0007g0021a0003c0004t0003g0020a0003c0004t0003g0022others(1): Show | 4 | HG02486.hp1 HG02486.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3+14214G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148665248 | ||||||
| chr1:148665561
|
T | G | 1 | a0001c0001t0030g0036 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.3+13901A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148665561 | ||||||
| chr1:148666662
|
C | T | 11 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0001t0030g0036others(8): Show | 11 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+12800G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148666662 | ||||||
| chr1:148666897
|
T | C | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3+12565A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148666897 | ||||||
| chr1:148667363
|
C | T | 11 | a0001c0001t0019g0026a0001c0001t0026g0032a0001c0001t0030g0036others(8): Show | 11 | HG01071.hp1 HG01109.hp2 HG02040.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+12099G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148667363 | ||||||
| chr1:148667705
|
A | G | 1 | a0003c0004t0006g0005 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3+11757T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148667705 | ||||||
| chr1:148668515
|
C | T | 2 | a0001c0001t0017g0024a0001c0001t0018g0023 | 2 | HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.3+10947G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148668515 | ||||||
| chr1:148669486
|
C | T | 1 | a0001c0002t0027g0030 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.3+9976G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148669486 | ||||||
| chr1:148669504
|
G | A | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3+9958C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148669504 | ||||||
| chr1:148669618
|
G | A | 7 | a0001c0001t0007g0021a0001c0001t0008g0019a0001c0001t0017g0024others(4): Show | 7 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3+9844C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148669618 | ||||||
| chr1:148669732
|
G | A | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+9730C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148669732 | ||||||
| chr1:148670070
|
C | T | 1 | a0001c0002t0010g0017 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.3+9392G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670070 | ||||||
| chr1:148670198
|
T | TTA | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+9263_3+9264insTA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670198 | ||||||
| chr1:148670360
|
G | A | 1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3+9102C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670360 | ||||||
| chr1:148670529
|
TAA | T | 6 | a0001c0001t0001g0010a0001c0001t0002g0002a0001c0001t0002g0003others(3): Show | 6 | HG00597.hp1 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.3+8931_3+8932delTT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670529 | ||||||
| chr1:148670529
|
TAAAA | T | 7 | a0001c0001t0001g0014a0001c0001t0011g0015a0001c0001t0014g0013others(4): Show | 7 | HG01071.hp2 HG01109.hp1 HG03688.hp1 others(4): Show |
intron_variant | MODIFIER | c.3+8929_3+8932delTT others(2): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670529 | ||||||
| chr1:148670533
|
AAAAAAAA others(17): Show |
A | 1 | a0003c0004t0006g0005 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3+8905_3+8928delAT others(22): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670533 | ||||||
| chr1:148670535
|
A | T | 7 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0007g0021others(4): Show | 7 | HG00597.hp2 HG01106.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.3+8927T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670535 | ||||||
| chr1:148670537
|
A | T | 13 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 13 | HG00597.hp1 HG00597.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.3+8925T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670537 | ||||||
| chr1:148670539
|
A | T | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(17): Show |
intron_variant | MODIFIER | c.3+8923T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670539 | ||||||
| chr1:148670540
|
AT | A | 7 | a0001c0001t0026g0032a0001c0001t0030g0036a0001c0002t0023g0034others(4): Show | 7 | HG01071.hp1 HG03540.hp1 HG03834.hp1 others(4): Show |
intron_variant | MODIFIER | c.3+8921delA | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670540 | ||||||
| chr1:148670551
|
T | C | 1 | a0001c0001t0019g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3+8911A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670551 | ||||||
| chr1:148670553
|
C | T | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+8909G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670553 | ||||||
| chr1:148670577
|
T | A | 1 | a0001c0002t0010g0017 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.3+8885A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670577 | ||||||
| chr1:148670579
|
A | T | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.3+8883T>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670579 | ||||||
| chr1:148670618
|
C | A | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3+8844G>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670618 | ||||||
| chr1:148670655
|
T | A | 1 | a0003c0004t0006g0005 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3+8807A>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670655 | ||||||
| chr1:148670877
|
T | C | 1 | a0001c0001t0011g0015 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3+8585A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670877 | ||||||
| chr1:148670937
|
T | C | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+8525A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148670937 | ||||||
| chr1:148671728
|
A | G | 17 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(14): Show | 17 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.3+7734T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148671728 | ||||||
| chr1:148671739
|
T | C | 17 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(14): Show | 17 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.3+7723A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148671739 | ||||||
| chr1:148672009
|
G | A | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+7453C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148672009 | ||||||
| chr1:148672153
|
T | G | 1 | a0002c0003t0005g0004 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.3+7309A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148672153 | ||||||
| chr1:148672438
|
T | C | 1 | a0002c0003t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3+7024A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148672438 | ||||||
| chr1:148672874
|
T | C | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+6588A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148672874 | ||||||
| chr1:148673638
|
G | A | 1 | a0001c0001t0016g0018 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3+5824C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148673638 | ||||||
| chr1:148673910
|
A | G | 3 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007 | 3 | HG00597.hp2 HG01106.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.3+5552T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148673910 | ||||||
| chr1:148674244
|
T | C | 21 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(18): Show | 21 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.3+5218A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148674244 | ||||||
| chr1:148674636
|
C | T | 21 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(18): Show | 21 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.3+4826G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148674636 | ||||||
| chr1:148674710
|
A | AGAG | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+4751_3+4752insCT others(1): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148674710 | ||||||
| chr1:148674951
|
CA | C | 19 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(16): Show | 19 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.3+4510delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148674951 | ||||||
| chr1:148675557
|
A | G | 3 | a0001c0001t0017g0024a0001c0001t0018g0023a0002c0003t0021g0025 | 3 | HG01109.hp2 HG03688.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.3+3905T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148675557 | ||||||
| chr1:148676442
|
T | C | 3 | a0001c0002t0010g0017a0001c0002t0012g0006a0002c0003t0001g0007 | 3 | HG00597.hp2 HG01106.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.3+3020A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148676442 | ||||||
| chr1:148676817
|
G | T | 20 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(17): Show | 20 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.3+2645C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148676817 | ||||||
| chr1:148676931
|
CA | C | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+2530delT | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148676931 | ||||||
| chr1:148677120
|
T | G | 5 | a0001c0001t0007g0021a0001c0001t0008g0019a0003c0004t0003g0020others(2): Show | 5 | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.3+2342A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148677120 | ||||||
| chr1:148678096
|
G | A | 1 | a0002c0003t0021g0025 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3+1366C>T | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148678096 | ||||||
| chr1:148678819
|
T | G | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | HG00597.hp1 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.3+643A>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148678819 | ||||||
| chr1:148679048
|
C | T | 22 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(19): Show | 22 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.3+414G>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148679048 | ||||||
| chr1:148679049
|
G | T | 24 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 24 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.3+413C>A | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148679049 | ||||||
| chr1:148679099
|
A | G | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.3+363T>C | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148679099 | ||||||
| chr1:148679166
|
T | C | 2 | a0001c0001t0013g0016a0001c0002t0010g0017 | 2 | HG02273.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.3+296A>G | NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148679166 | ||||||
| chr1:148679238
|
C | CGGCGGGG others(13): Show |
15 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(12): Show | 15 | HG00597.hp1 HG00597.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.3+204_3+223dupAACC others(16): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | 148679238 |